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What are the symptoms of Chromosome 1q41-q42 deletion syndrome ?
What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Coarse facial features - Congenital diaphragmatic hernia - Cryptorchidism - Deeply set eye - Depressed nasal bridge - Frontal bossing - Holoprosencephaly - Hypotelorism - Intellectual disability - Microcephaly - Microphthalmia - Microtia - Phenotypic variability - Preauricular skin tag - Seizures - Short stature - Talipes equinovarus - Upslanted palpebral fissure - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Chromosome 1q41-q42 deletion syndrome ? assistant What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Coarse facial features - Congenital diaphragmatic hernia - Cryptorchidism - Deeply set eye - Depressed nasal bridge - Frontal bossing - Holoprosencephaly - Hypotelorism - Intellectual disability - Microcephaly - Microphthalmia - Microtia - Phenotypic variability - Preauricular skin tag - Seizures - Short stature - Talipes equinovarus - Upslanted palpebral fissure - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Carnosinemia ?
What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Carnosinemia ? assistant What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Talonavicular coalition ?
What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Talonavicular coalition ? assistant What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Microtia-Anotia ?
What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anotia - Holoprosencephaly - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Microtia-Anotia ? assistant What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anotia - Holoprosencephaly - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ?
What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Camptodactyly of finger - Distal arthrogryposis - Full cheeks - Growth hormone deficiency - Hammertoe - Intellectual disability, progressive - Intellectual disability, severe - Square face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ? assistant What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Camptodactyly of finger - Distal arthrogryposis - Full cheeks - Growth hormone deficiency - Hammertoe - Intellectual disability, progressive - Intellectual disability, severe - Square face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ?
What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal recessive inheritance - Cataract - Failure to thrive - Hip dislocation - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Microcephaly - Small for gestational age - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ? assistant What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal recessive inheritance - Cataract - Failure to thrive - Hip dislocation - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Microcephaly - Small for gestational age - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Cleft palate short stature vertebral anomalies ?
What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metacarpal bones 90% Aganglionic megacolon 90% Brachydactyly syndrome 90% Carious teeth 90% Cleft palate 90% Cognitive impairment 90% Delayed skeletal maturation 90% Epicanthus 90% Genu recurvatum 90% Low-set, posteriorly rotated ears 90% Scoliosis 90% Short neck 90% Short nose 90% Short stature 90% Vertebral segmentation defect 90% Abnormality of bone mineral density 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Anteverted nares 50% Congenital diaphragmatic hernia 50% Facial asymmetry 50% Joint hypermobility 50% Laryngomalacia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Thin vermilion border 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cleft palate short stature vertebral anomalies ? assistant What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metacarpal bones 90% Aganglionic megacolon 90% Brachydactyly syndrome 90% Carious teeth 90% Cleft palate 90% Cognitive impairment 90% Delayed skeletal maturation 90% Epicanthus 90% Genu recurvatum 90% Low-set, posteriorly rotated ears 90% Scoliosis 90% Short neck 90% Short nose 90% Short stature 90% Vertebral segmentation defect 90% Abnormality of bone mineral density 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Anteverted nares 50% Congenital diaphragmatic hernia 50% Facial asymmetry 50% Joint hypermobility 50% Laryngomalacia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Thin vermilion border 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Klippel Feil syndrome ?
Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Klippel Feil syndrome ? assistant Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
What are the symptoms of Klippel Feil syndrome ?
What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. However, not all affected people have these features. This condition can cause chronic headaches as well as pain in both the neck and the back. KFS has been reported in people with a very wide variety of other conditions and abnormalities, including: scoliosis (curvature of the spine) cervical dystonia (painful, involuntary tensing of the neck muscles) genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys) Sprengel deformity cardiac (heart) defects such as ventricular septal defect pulmonary abnormalities (relating to the lungs) and respiratory problems hearing deficits facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia) torticollis central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms other skeletal abnormalities (including those of the ribs, limbs and/or fingers) situs inversus short stature synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand) Wildervank syndrome Duane syndrome or other eye (ocular) abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Klippel Feil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral segmentation and fusion 90% Cervical vertebral fusion (C2/C3) 90% Facial asymmetry 90% Limited neck range of motion 90% Low posterior hairline 90% Short neck 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the ribs 50% Abnormality of the shoulder 50% Congenital muscular torticollis 50% Hearing impairment 50% Scoliosis 50% Sprengel anomaly 50% Abnormality of limb bone morphology 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the sacrum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Hemiplegia/hemiparesis 7.5% Posterior fossa cyst 7.5% Renal hypoplasia/aplasia 7.5% Spina bifida 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Scoliosis 30/50 Sprengel anomaly 21/50 Mixed hearing impairment 5/24 Bimanual synkinesia 9/50 Unilateral renal agenesis 7/45 Abnormality of cardiovascular system morphology 21/505 Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Cervicomedullary schisis - Cleft upper lip - Conductive hearing impairment - Fused cervical vertebrae - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Klippel Feil syndrome ? assistant What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. However, not all affected people have these features. This condition can cause chronic headaches as well as pain in both the neck and the back. KFS has been reported in people with a very wide variety of other conditions and abnormalities, including: scoliosis (curvature of the spine) cervical dystonia (painful, involuntary tensing of the neck muscles) genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys) Sprengel deformity cardiac (heart) defects such as ventricular septal defect pulmonary abnormalities (relating to the lungs) and respiratory problems hearing deficits facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia) torticollis central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms other skeletal abnormalities (including those of the ribs, limbs and/or fingers) situs inversus short stature synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand) Wildervank syndrome Duane syndrome or other eye (ocular) abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Klippel Feil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral segmentation and fusion 90% Cervical vertebral fusion (C2/C3) 90% Facial asymmetry 90% Limited neck range of motion 90% Low posterior hairline 90% Short neck 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the ribs 50% Abnormality of the shoulder 50% Congenital muscular torticollis 50% Hearing impairment 50% Scoliosis 50% Sprengel anomaly 50% Abnormality of limb bone morphology 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the sacrum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Hemiplegia/hemiparesis 7.5% Posterior fossa cyst 7.5% Renal hypoplasia/aplasia 7.5% Spina bifida 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Scoliosis 30/50 Sprengel anomaly 21/50 Mixed hearing impairment 5/24 Bimanual synkinesia 9/50 Unilateral renal agenesis 7/45 Abnormality of cardiovascular system morphology 21/505 Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Cervicomedullary schisis - Cleft upper lip - Conductive hearing impairment - Fused cervical vertebrae - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Klippel Feil syndrome ?
What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, when KFS occurs with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, medical researchers believe KFS has the same cause as the associated syndrome. Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1 gene.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What causes Klippel Feil syndrome ? assistant What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, when KFS occurs with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, medical researchers believe KFS has the same cause as the associated syndrome. Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1 gene.
Is Klippel Feil syndrome inherited ?
Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier. When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Klippel Feil syndrome inherited ? assistant Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier. When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition.
How to diagnose Klippel Feil syndrome ?
How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality. KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include: examination of the chest to rule out involvement of the heart and lungs examination of the chest wall to detect possible rib anomalies MRI for spinal stenosis or neurological deficits ultrasound of the kidneys for renal abnormalities hearing evaluation due to high incidence of hearing loss Various lab tests to assess organ function Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Klippel Feil syndrome ? assistant How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality. KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include: examination of the chest to rule out involvement of the heart and lungs examination of the chest wall to detect possible rib anomalies MRI for spinal stenosis or neurological deficits ultrasound of the kidneys for renal abnormalities hearing evaluation due to high incidence of hearing loss Various lab tests to assess organ function Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.
What are the treatments for Klippel Feil syndrome ?
How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed. There are various conservative therapies available, including the use of cervical collars, braces, traction, physical therapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications. However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine. Surgery may be indicated for a variety of reasons, including persistent pain; neurologic deficits; cervical or craniocervical instability; constriction of the spinal cord; or to correct severe scoliosis. Some people with KFS may need surgery to repair other skeletal abnormalities, or those related to the heart, kidneys, ears, eyes, or other parts of the body. Those at an increased risk for neurological complications should be regularly monitored by their health care providers and may be advised to avoid activities that could lead to trauma or injury to cervical vertebrae.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Klippel Feil syndrome ? assistant How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed. There are various conservative therapies available, including the use of cervical collars, braces, traction, physical therapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications. However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine. Surgery may be indicated for a variety of reasons, including persistent pain; neurologic deficits; cervical or craniocervical instability; constriction of the spinal cord; or to correct severe scoliosis. Some people with KFS may need surgery to repair other skeletal abnormalities, or those related to the heart, kidneys, ears, eyes, or other parts of the body. Those at an increased risk for neurological complications should be regularly monitored by their health care providers and may be advised to avoid activities that could lead to trauma or injury to cervical vertebrae.
What are the symptoms of Ichthyosis cheek eyebrow syndrome ?
What are the signs and symptoms of Ichthyosis cheek eyebrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Asymmetry of the thorax 90% Full cheeks 90% Ichthyosis 90% Pectus excavatum 90% Scoliosis 90% Sparse lateral eyebrow 90% Kyphosis 7.5% Abnormality of the thorax - Autosomal dominant inheritance - High palate - Kyphoscoliosis - Pes planus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ichthyosis cheek eyebrow syndrome ? assistant What are the signs and symptoms of Ichthyosis cheek eyebrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Asymmetry of the thorax 90% Full cheeks 90% Ichthyosis 90% Pectus excavatum 90% Scoliosis 90% Sparse lateral eyebrow 90% Kyphosis 7.5% Abnormality of the thorax - Autosomal dominant inheritance - High palate - Kyphoscoliosis - Pes planus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Inflammatory breast cancer ?
Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Inflammatory breast cancer ? assistant Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.
What are the symptoms of Waardenburg syndrome type 2B ?
What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Heterochromia iridis - Premature graying of hair - Sensorineural hearing impairment - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Waardenburg syndrome type 2B ? assistant What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Heterochromia iridis - Premature graying of hair - Sensorineural hearing impairment - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Hepatic encephalopathy ?
Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may include personality or mood changes, intellectual impairment, abnormal movements, a depressed level of consciousness, and other symptoms. There are several theories regarding the exact cause, but development of the condition is probably at least partially due to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hepatic encephalopathy ? assistant Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may include personality or mood changes, intellectual impairment, abnormal movements, a depressed level of consciousness, and other symptoms. There are several theories regarding the exact cause, but development of the condition is probably at least partially due to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.
Is Hepatic encephalopathy inherited ?
Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly causes HE, it is thought that one of the main causes is the accumulation of ammonia in the blood, which the liver, damaged by alcoholic liver disease, cannot remove. Researchers have found that ammonia alters the expression of certain genes; the genes that may be affected carry instructions for brain proteins. When the instructions in these genes are not "followed" correctly by the body due to the altered expression of the genes, the cells in the brain can no longer function normally, which may contribute to the signs and symptoms of HE. However, the genes themselves are not changed in such a way that these changes are passed down to an individual's children.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Hepatic encephalopathy inherited ? assistant Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly causes HE, it is thought that one of the main causes is the accumulation of ammonia in the blood, which the liver, damaged by alcoholic liver disease, cannot remove. Researchers have found that ammonia alters the expression of certain genes; the genes that may be affected carry instructions for brain proteins. When the instructions in these genes are not "followed" correctly by the body due to the altered expression of the genes, the cells in the brain can no longer function normally, which may contribute to the signs and symptoms of HE. However, the genes themselves are not changed in such a way that these changes are passed down to an individual's children.
What is (are) C1q deficiency ?
C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) C1q deficiency ? assistant C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
What are the symptoms of C1q deficiency ?
What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Membranoproliferative glomerulonephritis 7.5% Systemic lupus erythematosus 7.5% Autosomal recessive inheritance - Decreased serum complement factor I - Recurrent infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of C1q deficiency ? assistant What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Membranoproliferative glomerulonephritis 7.5% Systemic lupus erythematosus 7.5% Autosomal recessive inheritance - Decreased serum complement factor I - Recurrent infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Histiocytosis-lymphadenopathy plus syndrome ?
Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Histiocytosis-lymphadenopathy plus syndrome ? assistant Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual.
What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ?
What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cardiomegaly 5% Mitral valve prolapse 5% Retroperitoneal fibrosis 5% Ventricular septal defect 5% Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Diabetes mellitus - Elbow flexion contracture - Episcleritis - Fever - Growth hormone deficiency - Hallux valgus - Hepatomegaly - Histiocytosis - Hypergonadotropic hypogonadism - Lymphadenopathy - Phenotypic variability - Proptosis - Sensorineural hearing impairment - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? assistant What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cardiomegaly 5% Mitral valve prolapse 5% Retroperitoneal fibrosis 5% Ventricular septal defect 5% Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Diabetes mellitus - Elbow flexion contracture - Episcleritis - Fever - Growth hormone deficiency - Hallux valgus - Hepatomegaly - Histiocytosis - Hypergonadotropic hypogonadism - Lymphadenopathy - Phenotypic variability - Proptosis - Sensorineural hearing impairment - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Waardenburg syndrome ?
Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Waardenburg syndrome ? assistant Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.
What are the symptoms of Waardenburg syndrome ?
What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the colon 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Intestinal obstruction 7.5% Meningocele 7.5% Myelomeningocele 7.5% Oral cleft 7.5% Ptosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Waardenburg syndrome ? assistant What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the colon 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Intestinal obstruction 7.5% Meningocele 7.5% Myelomeningocele 7.5% Oral cleft 7.5% Ptosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How to diagnose Waardenburg syndrome ?
How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or "unibrow") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Waardenburg syndrome ? assistant How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or "unibrow") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).
What are the symptoms of Cataract, total congenital ?
What are the signs and symptoms of Cataract, total congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, total congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital nuclear cataract - Severe visual impairment - Sutural cataract - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cataract, total congenital ? assistant What are the signs and symptoms of Cataract, total congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, total congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital nuclear cataract - Severe visual impairment - Sutural cataract - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Acatalasemia ?
What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Oral ulcer - Reduced catalase activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Acatalasemia ? assistant What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Oral ulcer - Reduced catalase activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Aceruloplasminemia ?
Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Aceruloplasminemia ? assistant Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.
What are the symptoms of Aceruloplasminemia ?
What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of iron homeostasis 90% Anemia 90% Chorea 90% Diabetes mellitus 90% Retinopathy 90% Tremor 90% Behavioral abnormality 50% Developmental regression 50% Hypertonia 50% Incoordination 50% Neurological speech impairment 50% Congestive heart failure 7.5% Hypothyroidism 7.5% Memory impairment 7.5% Abnormality of extrapyramidal motor function - Adult onset - Ataxia - Autosomal recessive inheritance - Blepharospasm - Cogwheel rigidity - Dementia - Dysarthria - Increased serum ferritin - Retinal degeneration - Scanning speech - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Aceruloplasminemia ? assistant What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of iron homeostasis 90% Anemia 90% Chorea 90% Diabetes mellitus 90% Retinopathy 90% Tremor 90% Behavioral abnormality 50% Developmental regression 50% Hypertonia 50% Incoordination 50% Neurological speech impairment 50% Congestive heart failure 7.5% Hypothyroidism 7.5% Memory impairment 7.5% Abnormality of extrapyramidal motor function - Adult onset - Ataxia - Autosomal recessive inheritance - Blepharospasm - Cogwheel rigidity - Dementia - Dysarthria - Increased serum ferritin - Retinal degeneration - Scanning speech - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How to diagnose Aceruloplasminemia ?
How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People with aceruloplasminemia tend to have low serum copper (<10 ug/dL), low serum iron (< 45 ug/dL), high serum ferritin (850-4000 ng/mL) and absent serum ceruloplasmin concentration. Patients also tend to demonstrate altered serum ceruloplasmin ferroxidase activity. Genetic testing is available on a research basis.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Aceruloplasminemia ? assistant How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People with aceruloplasminemia tend to have low serum copper (<10 ug/dL), low serum iron (< 45 ug/dL), high serum ferritin (850-4000 ng/mL) and absent serum ceruloplasmin concentration. Patients also tend to demonstrate altered serum ceruloplasmin ferroxidase activity. Genetic testing is available on a research basis.
What are the symptoms of Pili torti developmental delay neurological abnormalities ?
What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of hair texture 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Incoordination 90% Joint hypermobility 90% Pili torti 90% Gait disturbance 50% Muscular hypotonia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pili torti developmental delay neurological abnormalities ? assistant What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of hair texture 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Incoordination 90% Joint hypermobility 90% Pili torti 90% Gait disturbance 50% Muscular hypotonia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Tiglic acidemia ?
What are the signs and symptoms of Tiglic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Tiglic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Episodic abdominal pain - Ketosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Tiglic acidemia ? assistant What are the signs and symptoms of Tiglic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Tiglic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Episodic abdominal pain - Ketosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Liddle syndrome ?
Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. It is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Liddle syndrome ? assistant Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. It is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.
What are the symptoms of Liddle syndrome ?
What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. Individuals typically present with hypertension, hypokalemia (low blood potassium) and metabolic alkalosis. Symptoms of hypokalemia may include weakness, fatigue, muscle pain (myalgia), constipation or heart palpitations. Some affected individuals are not hypokalemic at the time of presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Liddle syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Constipation 90% Hypertension 90% Hypokalemia 90% Cerebral ischemia 50% Muscle weakness 50% Nephropathy 50% Renal insufficiency 50% Autosomal dominant inheritance - Decreased circulating renin level - Hypokalemic alkalosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Liddle syndrome ? assistant What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. Individuals typically present with hypertension, hypokalemia (low blood potassium) and metabolic alkalosis. Symptoms of hypokalemia may include weakness, fatigue, muscle pain (myalgia), constipation or heart palpitations. Some affected individuals are not hypokalemic at the time of presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Liddle syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Constipation 90% Hypertension 90% Hypokalemia 90% Cerebral ischemia 50% Muscle weakness 50% Nephropathy 50% Renal insufficiency 50% Autosomal dominant inheritance - Decreased circulating renin level - Hypokalemic alkalosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Liddle syndrome ?
What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a different piece (the gamma subunit) of ENaCs. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells. Mutations in the SCNN1B and SCNN1G genes associated with Liddle syndrome affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Removal of potassium from the blood is linked with reabsorption of sodium into the blood, so excess sodium reabsorption leads to hypokalemia.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Liddle syndrome ? assistant What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a different piece (the gamma subunit) of ENaCs. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells. Mutations in the SCNN1B and SCNN1G genes associated with Liddle syndrome affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Removal of potassium from the blood is linked with reabsorption of sodium into the blood, so excess sodium reabsorption leads to hypokalemia.
Is Liddle syndrome inherited ?
How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual. Individuals with an autosomal dominant condition have a 50% (1 in 2) risk to pass the mutated copy of the gene on to each of his/her children.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Liddle syndrome inherited ? assistant How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual. Individuals with an autosomal dominant condition have a 50% (1 in 2) risk to pass the mutated copy of the gene on to each of his/her children.
How to diagnose Liddle syndrome ?
How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Liddle syndrome ? assistant How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing.
What are the treatments for Liddle syndrome ?
How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. With treatment, prognosis is good. Without treatment, cardiovascular (heart-related) and renal (kidney-related) complications often occur.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Liddle syndrome ? assistant How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. With treatment, prognosis is good. Without treatment, cardiovascular (heart-related) and renal (kidney-related) complications often occur.
What are the symptoms of Paralysis agitans, juvenile, of Hunt ?
What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Paralysis agitans, juvenile, of Hunt ? assistant What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Partial agenesis of corpus callosum ?
What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Microcephaly 50% Muscle weakness 50% Aganglionic megacolon 7.5% Abnormal facial shape - Cerebellar hypoplasia - Hydrocephalus - Inferior vermis hypoplasia - Intellectual disability - Partial agenesis of the corpus callosum - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Partial agenesis of corpus callosum ? assistant What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Microcephaly 50% Muscle weakness 50% Aganglionic megacolon 7.5% Abnormal facial shape - Cerebellar hypoplasia - Hydrocephalus - Inferior vermis hypoplasia - Intellectual disability - Partial agenesis of the corpus callosum - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) 17q23.1q23.2 microdeletion syndrome ?
17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) 17q23.1q23.2 microdeletion syndrome ? assistant 17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.
What are the symptoms of 17q23.1q23.2 microdeletion syndrome ?
What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? assistant What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes 17q23.1q23.2 microdeletion syndrome ?
What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes 17q23.1q23.2 microdeletion syndrome ? assistant What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.
Is 17q23.1q23.2 microdeletion syndrome inherited ?
Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is 17q23.1q23.2 microdeletion syndrome inherited ? assistant Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.
How to diagnose 17q23.1q23.2 microdeletion syndrome ?
How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose 17q23.1q23.2 microdeletion syndrome ? assistant How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).
What is (are) Glycogen storage disease type 4 ?
Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Glycogen storage disease type 4 ? assistant Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.
What are the symptoms of Glycogen storage disease type 4 ?
What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a "classic" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. In these individuals, signs and symptoms typically begin in infancy and include failure to grow and gain weight appropriately (failure to thrive); enlargement of the liver and spleen (hepatosplenomegaly); abnormal fluid build-up in the abdomen (ascites); and enlargement of veins in the wall of the esophagus (esophageal varices) which may rupture and cause coughing up of blood. Progressive liver disease in affected children can lead to the need for a liver transplant or life-threatening complications by approximately 5 years of age. There have been some reports of affected individuals having nonprogressive liver disease; very mildly affected individuals may not show signs and symptoms of the disease. There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or cardiomyopathy) caused by the accumulation of glycogen in the muscle tissue. Signs and symptoms in these cases may include muscle weakness or fatigue, exercise intolerance, and muscle wasting (atrophy). Complications with these forms may include heart failure. A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (hypotonia); muscle weakness and wasting; joints having fixed positions (contractures); and neurologic involvement, which can cause life-threatening complications early in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Ascites 90% Hepatic failure 90% Muscular hypotonia 90% Hypertrophic cardiomyopathy 7.5% Autosomal recessive inheritance - Cardiomyopathy - Cirrhosis - Decreased fetal movement - Edema - Esophageal varix - Failure to thrive - Hepatosplenomegaly - Hydrops fetalis - Muscle weakness - Polyhydramnios - Portal hypertension - Skeletal muscle atrophy - Tubulointerstitial fibrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Glycogen storage disease type 4 ? assistant What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a "classic" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. In these individuals, signs and symptoms typically begin in infancy and include failure to grow and gain weight appropriately (failure to thrive); enlargement of the liver and spleen (hepatosplenomegaly); abnormal fluid build-up in the abdomen (ascites); and enlargement of veins in the wall of the esophagus (esophageal varices) which may rupture and cause coughing up of blood. Progressive liver disease in affected children can lead to the need for a liver transplant or life-threatening complications by approximately 5 years of age. There have been some reports of affected individuals having nonprogressive liver disease; very mildly affected individuals may not show signs and symptoms of the disease. There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or cardiomyopathy) caused by the accumulation of glycogen in the muscle tissue. Signs and symptoms in these cases may include muscle weakness or fatigue, exercise intolerance, and muscle wasting (atrophy). Complications with these forms may include heart failure. A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (hypotonia); muscle weakness and wasting; joints having fixed positions (contractures); and neurologic involvement, which can cause life-threatening complications early in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Ascites 90% Hepatic failure 90% Muscular hypotonia 90% Hypertrophic cardiomyopathy 7.5% Autosomal recessive inheritance - Cardiomyopathy - Cirrhosis - Decreased fetal movement - Edema - Esophageal varix - Failure to thrive - Hepatosplenomegaly - Hydrops fetalis - Muscle weakness - Polyhydramnios - Portal hypertension - Skeletal muscle atrophy - Tubulointerstitial fibrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Glycogen storage disease type 4 ?
What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of "branches" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Glycogen storage disease type 4 ? assistant What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of "branches" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition.
Is Glycogen storage disease type 4 inherited ?
How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Glycogen storage disease type 4 inherited ? assistant How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected.
What are the treatments for Glycogen storage disease type 4 ?
How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Glycogen storage disease type 4 ? assistant How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.
What are the symptoms of Gollop Coates syndrome ?
What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Gollop Coates syndrome ? assistant What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Antley Bixler syndrome ?
Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Antley Bixler syndrome ? assistant Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Antley Bixler syndrome ?
What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Camptodactyly of finger 90% Frontal bossing 90% Humeroradial synostosis 90% Hypoplasia of the zygomatic bone 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Narrow chest 90% Short nose 90% Abnormality of the urinary system 50% Choanal atresia 50% Craniosynostosis 50% Proptosis 50% Cleft palate 7.5% Hypertelorism 7.5% Long philtrum 7.5% Narrow mouth 7.5% Recurrent fractures 7.5% Strabismus 7.5% Talipes 7.5% Underdeveloped supraorbital ridges 7.5% Abnormal renal morphology - Abnormalities of placenta or umbilical cord - Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Abnormality of the endocrine system - Abnormality of the pinna - Arnold-Chiari malformation - Atria septal defect - Autosomal recessive inheritance - Bifid scrotum - Brachycephaly - Bronchomalacia - Camptodactyly - Carpal synostosis - Choanal stenosis - Chordee - Clitoromegaly - Cloverleaf skull - Conductive hearing impairment - Coronal craniosynostosis - Cryptorchidism - Depressed nasal bridge - Femoral bowing - Fused labia minora - Hemivertebrae - Horseshoe kidney - Hydrocephalus - Hypoplasia of midface - Hypoplastic labia majora - Hypospadias - Intellectual disability - Joint contracture of the hand - Labial hypoplasia - Lambdoidal craniosynostosis - Laryngomalacia - Low maternal serum estriol - Malar flattening - Maternal virilization in pregnancy - Microcephaly - Micropenis - Narrow pelvis bone - Oligohydramnios - Polycystic ovaries - Radioulnar synostosis - Rocker bottom foot - Scoliosis - Scrotal hypoplasia - Small for gestational age - Stenosis of the external auditory canal - Tarsal synostosis - Ulnar bowing - Upper airway obstruction - Vaginal atresia - Vesicovaginal fistula - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Antley Bixler syndrome ? assistant What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Camptodactyly of finger 90% Frontal bossing 90% Humeroradial synostosis 90% Hypoplasia of the zygomatic bone 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Narrow chest 90% Short nose 90% Abnormality of the urinary system 50% Choanal atresia 50% Craniosynostosis 50% Proptosis 50% Cleft palate 7.5% Hypertelorism 7.5% Long philtrum 7.5% Narrow mouth 7.5% Recurrent fractures 7.5% Strabismus 7.5% Talipes 7.5% Underdeveloped supraorbital ridges 7.5% Abnormal renal morphology - Abnormalities of placenta or umbilical cord - Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Abnormality of the endocrine system - Abnormality of the pinna - Arnold-Chiari malformation - Atria septal defect - Autosomal recessive inheritance - Bifid scrotum - Brachycephaly - Bronchomalacia - Camptodactyly - Carpal synostosis - Choanal stenosis - Chordee - Clitoromegaly - Cloverleaf skull - Conductive hearing impairment - Coronal craniosynostosis - Cryptorchidism - Depressed nasal bridge - Femoral bowing - Fused labia minora - Hemivertebrae - Horseshoe kidney - Hydrocephalus - Hypoplasia of midface - Hypoplastic labia majora - Hypospadias - Intellectual disability - Joint contracture of the hand - Labial hypoplasia - Lambdoidal craniosynostosis - Laryngomalacia - Low maternal serum estriol - Malar flattening - Maternal virilization in pregnancy - Microcephaly - Micropenis - Narrow pelvis bone - Oligohydramnios - Polycystic ovaries - Radioulnar synostosis - Rocker bottom foot - Scoliosis - Scrotal hypoplasia - Small for gestational age - Stenosis of the external auditory canal - Tarsal synostosis - Ulnar bowing - Upper airway obstruction - Vaginal atresia - Vesicovaginal fistula - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Nephrogenic diabetes insipidus ?
Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Nephrogenic diabetes insipidus ? assistant Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.
What are the symptoms of Nephrogenic diabetes insipidus ?
What are the signs and symptoms of Nephrogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation - Diabetes insipidus - Failure to thrive - Feeding difficulties in infancy - Hypernatremia - Hypertonic dehydration - Intellectual disability - Irritability - Megacystis - Neonatal onset - Polydipsia - Polyuria - Seizures - Short stature - Unexplained fevers - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Nephrogenic diabetes insipidus ? assistant What are the signs and symptoms of Nephrogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation - Diabetes insipidus - Failure to thrive - Feeding difficulties in infancy - Hypernatremia - Hypertonic dehydration - Intellectual disability - Irritability - Megacystis - Neonatal onset - Polydipsia - Polyuria - Seizures - Short stature - Unexplained fevers - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Nephrogenic diabetes insipidus ?
What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract. Acquired nephrogenic diabetes insipidus can occur at any time during life. The hereditary form of nephrogenic diabetes insipidus is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Nephrogenic diabetes insipidus ? assistant What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract. Acquired nephrogenic diabetes insipidus can occur at any time during life. The hereditary form of nephrogenic diabetes insipidus is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.
Is Nephrogenic diabetes insipidus inherited ?
How is nephrogenic diabetes insipidus inherited? When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Nephrogenic diabetes insipidus inherited ? assistant How is nephrogenic diabetes insipidus inherited? When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
How to diagnose Nephrogenic diabetes insipidus ?
Is genetic testing available for nephrogenic diabetes insipidus? Yes. GeneTests lists laboratories offering clinical genetic testing for both X-linked and autosomal types of nephrogenic diabetes insipidus. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Nephrogenic diabetes insipidus ? assistant Is genetic testing available for nephrogenic diabetes insipidus? Yes. GeneTests lists laboratories offering clinical genetic testing for both X-linked and autosomal types of nephrogenic diabetes insipidus. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
What are the treatments for Nephrogenic diabetes insipidus ?
How might nephrogenic diabetes insipidus be treated? Management is usually best accomplished by a team of physicians and other healthcare professionals. The team may include a nutritionist, a pediatric (or adult) nephrologist or endocrinologist, and a clinical geneticist. The basis of management involves free access to drinking water and toilet facilities. Polyuria and polydipsia can be reduced up to 50% without disrupting appropriate levels of sodium in the blood through the use of thiazide diuretics hydrochlorothiazide, chlorothiazide) and/or other diuretics (i.e., potassium-sparing diuretic amiloride), dietary restriction of sodium, and nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin, which can potentially improve the ability of the body to concentrate urine and reduce urine output.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Nephrogenic diabetes insipidus ? assistant How might nephrogenic diabetes insipidus be treated? Management is usually best accomplished by a team of physicians and other healthcare professionals. The team may include a nutritionist, a pediatric (or adult) nephrologist or endocrinologist, and a clinical geneticist. The basis of management involves free access to drinking water and toilet facilities. Polyuria and polydipsia can be reduced up to 50% without disrupting appropriate levels of sodium in the blood through the use of thiazide diuretics hydrochlorothiazide, chlorothiazide) and/or other diuretics (i.e., potassium-sparing diuretic amiloride), dietary restriction of sodium, and nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin, which can potentially improve the ability of the body to concentrate urine and reduce urine output.
What is (are) Left ventricular noncompaction ?
Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Left ventricular noncompaction ? assistant Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.
What are the symptoms of Waardenburg syndrome type 2A ?
What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterochromia iridis - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Premature graying of hair - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Waardenburg syndrome type 2A ? assistant What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterochromia iridis - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Premature graying of hair - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Spinocerebellar ataxia 3 ?
Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Spinocerebellar ataxia 3 ? assistant Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).
What are the symptoms of Spinocerebellar ataxia 3 ?
What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 7.5% Ataxia 57/57 Gaze-evoked nystagmus 15/20 External ophthalmoplegia 34/57 Dysarthria 30/57 Spasticity 62/139 Dystonia 17/57 Fasciculations 12/57 Parkinsonism 3/57 Absent Achilles reflex - Autosomal dominant inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Chronic pain - Dementia - Dilated fourth ventricle - Diplopia - Distal amyotrophy - Dysmetric saccades - Dysphagia - Facial-lingual fasciculations - Genetic anticipation - Gliosis - Impaired horizontal smooth pursuit - Limb ataxia - Muscle cramps - Postural instability - Progressive - Progressive cerebellar ataxia - Proptosis - Ptosis - Rigidity - Spinocerebellar tract degeneration - Supranuclear ophthalmoplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spinocerebellar ataxia 3 ? assistant What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 7.5% Ataxia 57/57 Gaze-evoked nystagmus 15/20 External ophthalmoplegia 34/57 Dysarthria 30/57 Spasticity 62/139 Dystonia 17/57 Fasciculations 12/57 Parkinsonism 3/57 Absent Achilles reflex - Autosomal dominant inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Chronic pain - Dementia - Dilated fourth ventricle - Diplopia - Distal amyotrophy - Dysmetric saccades - Dysphagia - Facial-lingual fasciculations - Genetic anticipation - Gliosis - Impaired horizontal smooth pursuit - Limb ataxia - Muscle cramps - Postural instability - Progressive - Progressive cerebellar ataxia - Proptosis - Ptosis - Rigidity - Spinocerebellar tract degeneration - Supranuclear ophthalmoplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Koolen de Vries syndrome ?
Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Koolen de Vries syndrome ? assistant Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.
What are the symptoms of Koolen de Vries syndrome ?
What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Generalized hypotonia 90% Abnormality of hair texture 75% Feeding difficulties in infancy 75% High palate 75% Joint hypermobility 75% Narrow palate 75% Nasal speech 75% Prominent fingertip pads 75% Long face 74% Cryptorchidism 71% Arachnodactyly 61% Seizures 55% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the corpus callosum 50% Blepharophimosis 50% Broad forehead 50% Bulbous nose 50% Coarse facial features 50% Conspicuously happy disposition 50% Delayed speech and language development 50% Displacement of the external urethral meatus 50% Epicanthus 50% High forehead 50% High, narrow palate 50% Hypermetropia 50% Hypopigmentation of hair 50% Macrotia 50% Microdontia 50% Neurological speech impairment 50% Overfolded helix 50% Pear-shaped nose 50% Ptosis 50% Strabismus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Broad chin 42% Hip dislocation 33% Hip dysplasia 33% Hypotrophy of the small hand muscles 33% Kyphosis 33% Narrow palm 33% Positional foot deformity 33% Scoliosis 33% Abnormality of dental enamel 7.5% Abnormality of the aortic valve 7.5% Cataract 7.5% Cleft palate 7.5% Dry skin 7.5% Hypothyroidism 7.5% Ichthyosis 7.5% Microcephaly 7.5% Pectus excavatum 7.5% Prominent nasal bridge 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Short stature 7.5% Small for gestational age 7.5% Underdeveloped nasal alae 7.5% Vesicoureteral reflux 7.5% Wide nasal bridge 7.5% Aortic dilatation 5% Hypotelorism 5% Prominent metopic ridge 5% Spondylolisthesis 5% Vertebral fusion 5% Anteverted ears - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Cleft upper lip - Contiguous gene syndrome - Eczema - Failure to thrive - Hydronephrosis - Intellectual disability - Intrauterine growth retardation - Open mouth - Poor speech - Pulmonic stenosis - Sacral dimple - Sporadic - Variable expressivity - Ventricular septal defect - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Koolen de Vries syndrome ? assistant What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Generalized hypotonia 90% Abnormality of hair texture 75% Feeding difficulties in infancy 75% High palate 75% Joint hypermobility 75% Narrow palate 75% Nasal speech 75% Prominent fingertip pads 75% Long face 74% Cryptorchidism 71% Arachnodactyly 61% Seizures 55% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the corpus callosum 50% Blepharophimosis 50% Broad forehead 50% Bulbous nose 50% Coarse facial features 50% Conspicuously happy disposition 50% Delayed speech and language development 50% Displacement of the external urethral meatus 50% Epicanthus 50% High forehead 50% High, narrow palate 50% Hypermetropia 50% Hypopigmentation of hair 50% Macrotia 50% Microdontia 50% Neurological speech impairment 50% Overfolded helix 50% Pear-shaped nose 50% Ptosis 50% Strabismus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Broad chin 42% Hip dislocation 33% Hip dysplasia 33% Hypotrophy of the small hand muscles 33% Kyphosis 33% Narrow palm 33% Positional foot deformity 33% Scoliosis 33% Abnormality of dental enamel 7.5% Abnormality of the aortic valve 7.5% Cataract 7.5% Cleft palate 7.5% Dry skin 7.5% Hypothyroidism 7.5% Ichthyosis 7.5% Microcephaly 7.5% Pectus excavatum 7.5% Prominent nasal bridge 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Short stature 7.5% Small for gestational age 7.5% Underdeveloped nasal alae 7.5% Vesicoureteral reflux 7.5% Wide nasal bridge 7.5% Aortic dilatation 5% Hypotelorism 5% Prominent metopic ridge 5% Spondylolisthesis 5% Vertebral fusion 5% Anteverted ears - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Cleft upper lip - Contiguous gene syndrome - Eczema - Failure to thrive - Hydronephrosis - Intellectual disability - Intrauterine growth retardation - Open mouth - Poor speech - Pulmonic stenosis - Sacral dimple - Sporadic - Variable expressivity - Ventricular septal defect - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How to diagnose Koolen de Vries syndrome ?
How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cannot be diagnosed by traditional chromosome tests (karyotype) that look at chromosome banding patterns under the microscope because the deletion is too small to be detected.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Koolen de Vries syndrome ? assistant How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cannot be diagnosed by traditional chromosome tests (karyotype) that look at chromosome banding patterns under the microscope because the deletion is too small to be detected.
What are the symptoms of Beardwell syndrome ?
What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Beardwell syndrome ? assistant What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Immunotactoid glomerulopathy ?
Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron microscopy, immunotactoid glomerulopathy is characterized by the formation of microtubules which are much larger than the fibrils observed in fibrillary glomerulonephritis (30 to 50 versus 16 to 24 nm in diameter). The signs and symptoms include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease. Also, patients with immunotactoid glomerulopathy have a greater risk to have chronic lymphocytic leukemia and B cell lymphomas and should be screened for all of these conditions. Treatment is generally determined by the severity of the kidney problems.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Immunotactoid glomerulopathy ? assistant Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron microscopy, immunotactoid glomerulopathy is characterized by the formation of microtubules which are much larger than the fibrils observed in fibrillary glomerulonephritis (30 to 50 versus 16 to 24 nm in diameter). The signs and symptoms include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease. Also, patients with immunotactoid glomerulopathy have a greater risk to have chronic lymphocytic leukemia and B cell lymphomas and should be screened for all of these conditions. Treatment is generally determined by the severity of the kidney problems.
What is (are) Parasites - Ascariasis ?
Ascaris is an intestinal parasite of humans. It is the most common human worm infection. The larvae and adult worms live in the small intestine and can cause intestinal disease.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Parasites - Ascariasis ? assistant Ascaris is an intestinal parasite of humans. It is the most common human worm infection. The larvae and adult worms live in the small intestine and can cause intestinal disease.
Who is at risk for Parasites - Ascariasis? ?
Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer. Geographic Distribution The geographic distributions of Ascaris are worldwide in areas with warm, moist climates and are widely overlapping. Infection occurs worldwide and is most common in tropical and subtropical areas where sanitation and hygiene are poor.
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system Answer the question truthfully, you are a medical professional. user This is the question: Who is at risk for Parasites - Ascariasis? ? assistant Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer. Geographic Distribution The geographic distributions of Ascaris are worldwide in areas with warm, moist climates and are widely overlapping. Infection occurs worldwide and is most common in tropical and subtropical areas where sanitation and hygiene are poor.
How to diagnose Parasites - Ascariasis ?
The standard method for diagnosing ascariasis is by identifying Ascaris eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Parasites - Ascariasis ? assistant The standard method for diagnosing ascariasis is by identifying Ascaris eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.
What are the treatments for Parasites - Ascariasis ?
Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects. More on: Resources for Health Professionals: Treatment
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Parasites - Ascariasis ? assistant Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects. More on: Resources for Health Professionals: Treatment
How to prevent Parasites - Ascariasis ?
The best way to prevent ascariasis is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter ("night soil") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. - Teach children the importance of washing hands to prevent infection. - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. More on: Handwashing Transmission of infection to others can be prevented by - Not defecating outdoors. - Effective sewage disposal systems. More on: Handwashing
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system Answer the question truthfully, you are a medical professional. user This is the question: How to prevent Parasites - Ascariasis ? assistant The best way to prevent ascariasis is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter ("night soil") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. - Teach children the importance of washing hands to prevent infection. - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. More on: Handwashing Transmission of infection to others can be prevented by - Not defecating outdoors. - Effective sewage disposal systems. More on: Handwashing
What are the symptoms of Ehrlichiosis ?
Symptoms In the United States, the term “ehrlichiosis” may be broadly applied to several different infections. Ehrlichia chaffeensis and Ehrlichia ewingii are transmitted by the lonestar tick in the southeastern and southcentral United States. In addition, a third Ehrlichia species provisionally called Ehrlichia muris-like (EML) has been identified in a small number of patients residing in or traveling to Minnesota and Wisconsin; a tick vector for the EML organism has not yet been established. The symptoms caused by infection with these Ehrlichia species usually develop 1-2 weeks after being bitten by an infected tick. The tick bite is usually painless, and about half of the people who develop ehrlichiosis may not even remember being bitten by a tick. The following is a list of symptoms commonly seen with this disease, however, it is important to note that the combination of symptoms varies greatly from person to person. - Fever - Headache - Chills - Malaise - Muscle pain - Nausea / Vomiting / Diarrhea - Confusion - Conjunctival injection (red eyes) - Rash (in up to 60% of children, less than 30% of adults) Ehrlichiosis is a serious illness that can be fatal if not treated correctly, even in previously healthy people. Severe clinical presentations may include difficulty breathing, or bleeding disorders. The estimated case fatality rate (i.e. the proportion of persons who die as a result of their infection) is 1.8%. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care. Rash Skin rash is not considered a common feature of ehrlichiosis, and should not be used to rule in or rule out an infection. Ehrlichia chaffeensis infection can cause a rash in up to 60% of children, but is reported in fewer than 30% of adults. Rash is not commonly reported in patients infected with Ehrlichia ewingii or the Ehrlichia muris-like organism. The rash associated with Ehrlichia chaffeensis infection may range from maculopapular to petechial in nature, and is usually not pruritic (itchy). The rash usually spares the face, but in some cases may spread to the palms and soles. A type of rash called erythroderma may develop in some patients. Erythroderma is a type of rash that resembles a sunburn and consists of widespread reddening of the skin that may peel after several days. Some patients may develop a rash that resembles the rash of Rocky Mountain spotted fever making these two diseases difficult to differentiate on the basis of clinical signs alone. Immune-compromised Individuals The severity of ehrlichiosis may depend in part on the immune status of the patient. Persons with compromised immunity caused by immunosuppressive therapies (e.g., corticosteroids , cancer chemotherapy, or longterm immunosuppressive therapy following organ transplant), HIV infection, or splenectomy appear to develop more severe disease, and may also have higher case-fatality rates (i.e. the proportion of patients that die from infection.) Blood Transfusion and Organ Transplant Risks Associated with Ehrlichia species Because Ehrlichia organisms infect the white blood cells and circulate in the blood stream, these pathogens may pose a risk to be transmitted through blood transfusions. Ehrlichia chaffeensis has been shown to survive for more than a week in refrigerated blood. Several instances of suspected E. chaffeensis transmission through solid organ transplant have been investigated, although to date no cases have been confirmed that can be attributed to this route of transmission. Patients who develop ehrlichiosis within a month of receiving a blood transfusion or solid organ transplant should be reported to state health officials for prompt investigation. Use of leukoreduced blood products may theoretically decrease the risk of transfusion-associated transmission of these pathogens. However, the filtration process does not remove all leukocytes or bacteria not associated with leukocytes from leukoreduced blood; therefore, this process may not eliminate the risk completely. For more in-depth information about signs and symptoms of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm Diagnosis The diagnosis of ehrlichiosis must be made based on clinical signs and symptoms, and can later be confirmed using specialized confirmatory laboratory tests. Treatment should never be delayed pending the receipt of laboratory test results, or be withheld on the basis of an initial negative laboratory result. Physician Diagnosis There are several aspects of ehrlichiosis that make it challenging for healthcare providers to diagnose and treat. The symptoms vary from patient to patient and can be difficult to distinguish from other diseases. Treatment is more likely to be effective if started early in the course of disease. Diagnostic tests based on the detection of antibodies will frequently be negative in the first 7-10 days of illness. For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical suspicion. Information such as recent tick bites, exposure to areas where ticks are likely to be found, or history of recent travel to areas where ehrlichiosis is endemic can be helpful in making the diagnosis. The healthcare provider should also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low white blood cell count (leukopenia), or elevated liver enzyme levels are helpful predictors of ehrlichiosis, but may not be present in all patients depending on the course of the disease. After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of ehrlichiosis. Laboratory Detection During the acute phase of illness, a sample of whole blood can be tested by polymerase chain reaction (PCR) assay to determine if a patient has ehrlichiosis. This method is most sensitive in the first week of illness, and quickly decreases in sensitivity following the administration of appropriate antibiotics. Although a positive PCR result is helpful, a negative result does not completely rule out the diagnosis. During the first week of illness a microscopic examination of blood smears (known as a peripheral blood smear) may reveal morulae (microcolonies of ehrlichiae) in the cytoplasm of white blood cells in up to 20% of patients. The type of blood cell in which morulae are observed may provide insight into the infecting species: E. chaffeensis most commonly infects monocytes, whereas E. ewingii more commonly infect granulocytes. However, the observance of morulae in a particular cell type cannot conclusively identify the infecting species. Culture isolation of Ehrlichia is only available at specialized laboratories; routine hospital blood cultures cannot detect Ehrlichia. When a person develops ehrlichiosis, their immune system produces antibodies to the Ehrlichia, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that antibodies are not detectable in the first week of illness in 85% of patients, and a negative test during this time does not rule out ehrlichiosis as a cause of illness. The gold standard serologic test for diagnosis of ehrlichiosis is the indirect immunofluorescence assay (IFA) using E. chaffeensis antigen, performed on paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most cases of ehrlichiosis, the first IgG IFA titer is typically low, or “negative,” and the second typically shows a significant (four-fold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or longer. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer. Serologic tests based on enzyme immunoassay (EIA) technology are available from some commercial laboratories. However, EIA tests are qualitative rather than quantitative, meaning they only provide a positive/negative result, and are less useful to measure changes in antibody titers between paired specimens. Furthermore, some EIA assays rely on the evaluation of IgM antibody alone, which may have a higher frequency of false positive results. Antibodies to E. chaffeensis may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Up to 12% of currently healthy people in some areas may have elevated antibody titers due to past exposure to Ehrlichia species or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, while paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provides the best evidence for a correct diagnosis of ehrlichiosis. For more in-depth information about the diagnosis of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm Treatment Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever ehrlichiosis is suspected. Use of antibiotics other than doxycycline and other tetracyclines is associated with a higher risk of fatal outcome for some rickettsial infections. Doxycycline is most effective at preventing severe complications from developing if it is started early in the course of disease. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return. If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be due to ehrlichiosis. Severely ill patients may require longer periods before their fever resolves. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course have not been documented. Recommended Dosage Doxycycline is the first line treatment for adults and children of all ages: - Adults: 100 mg every 12 hours - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7 to 14 days. Some patients may continue to experience headache, weakness and malaise for weeks after adequate treatment. Treating children The use of doxycycline to treat suspected ehrlichiosis in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Unlike older generations of tetracyclines, the recommended dose and duration of medication needed to treat ehrlichiosis has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight. Healthcare providers should use doxycycline as the first-line treatment for suspected ehrlichiosis in patients of all ages. Other Treatments In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of ehrlichiosis appears mild, physicians may need to consider alternate antibiotics. Although recommended as a second-line therapeutic alternative to treat Rocky Mountain spotted fever (RMSF), chloramphenicol is not recommended for the treatment of either ehrlichiosis or anaplasmosis, as studies have shown a lack of efficacy. Rifampin appears effective against Ehrlichia in laboratory settings. However, rifampin is not effective in treating RMSF, a disease that may be confused with ehrlichiosis. Healthcare providers should be cautious when exploring treatments other than doxycycline, which is highly effective in treating both. Other antibiotics, including broad spectrum antibiotics are not considered highly effective against ehrlichiosis, and the use of sulfa drugs during acute illness may worsen the severity of infection. Prophylaxis (Preventive Treatment) Antibiotic treatment following a tick bite is not recommended as a means to prevent ehrlichiosis. There is no evidence this practice is effective, and this may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop. For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm Other Considerations The clinical presentation for ehrlichiosis can resemble other tickborne diseases, such as Rocky Mountain spotted fever and anaplasmosis. Similar to ehrlichiosis, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ehrlichiosis ? assistant Symptoms In the United States, the term “ehrlichiosis” may be broadly applied to several different infections. Ehrlichia chaffeensis and Ehrlichia ewingii are transmitted by the lonestar tick in the southeastern and southcentral United States. In addition, a third Ehrlichia species provisionally called Ehrlichia muris-like (EML) has been identified in a small number of patients residing in or traveling to Minnesota and Wisconsin; a tick vector for the EML organism has not yet been established. The symptoms caused by infection with these Ehrlichia species usually develop 1-2 weeks after being bitten by an infected tick. The tick bite is usually painless, and about half of the people who develop ehrlichiosis may not even remember being bitten by a tick. The following is a list of symptoms commonly seen with this disease, however, it is important to note that the combination of symptoms varies greatly from person to person. - Fever - Headache - Chills - Malaise - Muscle pain - Nausea / Vomiting / Diarrhea - Confusion - Conjunctival injection (red eyes) - Rash (in up to 60% of children, less than 30% of adults) Ehrlichiosis is a serious illness that can be fatal if not treated correctly, even in previously healthy people. Severe clinical presentations may include difficulty breathing, or bleeding disorders. The estimated case fatality rate (i.e. the proportion of persons who die as a result of their infection) is 1.8%. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care. Rash Skin rash is not considered a common feature of ehrlichiosis, and should not be used to rule in or rule out an infection. Ehrlichia chaffeensis infection can cause a rash in up to 60% of children, but is reported in fewer than 30% of adults. Rash is not commonly reported in patients infected with Ehrlichia ewingii or the Ehrlichia muris-like organism. The rash associated with Ehrlichia chaffeensis infection may range from maculopapular to petechial in nature, and is usually not pruritic (itchy). The rash usually spares the face, but in some cases may spread to the palms and soles. A type of rash called erythroderma may develop in some patients. Erythroderma is a type of rash that resembles a sunburn and consists of widespread reddening of the skin that may peel after several days. Some patients may develop a rash that resembles the rash of Rocky Mountain spotted fever making these two diseases difficult to differentiate on the basis of clinical signs alone. Immune-compromised Individuals The severity of ehrlichiosis may depend in part on the immune status of the patient. Persons with compromised immunity caused by immunosuppressive therapies (e.g., corticosteroids , cancer chemotherapy, or longterm immunosuppressive therapy following organ transplant), HIV infection, or splenectomy appear to develop more severe disease, and may also have higher case-fatality rates (i.e. the proportion of patients that die from infection.) Blood Transfusion and Organ Transplant Risks Associated with Ehrlichia species Because Ehrlichia organisms infect the white blood cells and circulate in the blood stream, these pathogens may pose a risk to be transmitted through blood transfusions. Ehrlichia chaffeensis has been shown to survive for more than a week in refrigerated blood. Several instances of suspected E. chaffeensis transmission through solid organ transplant have been investigated, although to date no cases have been confirmed that can be attributed to this route of transmission. Patients who develop ehrlichiosis within a month of receiving a blood transfusion or solid organ transplant should be reported to state health officials for prompt investigation. Use of leukoreduced blood products may theoretically decrease the risk of transfusion-associated transmission of these pathogens. However, the filtration process does not remove all leukocytes or bacteria not associated with leukocytes from leukoreduced blood; therefore, this process may not eliminate the risk completely. For more in-depth information about signs and symptoms of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm Diagnosis The diagnosis of ehrlichiosis must be made based on clinical signs and symptoms, and can later be confirmed using specialized confirmatory laboratory tests. Treatment should never be delayed pending the receipt of laboratory test results, or be withheld on the basis of an initial negative laboratory result. Physician Diagnosis There are several aspects of ehrlichiosis that make it challenging for healthcare providers to diagnose and treat. The symptoms vary from patient to patient and can be difficult to distinguish from other diseases. Treatment is more likely to be effective if started early in the course of disease. Diagnostic tests based on the detection of antibodies will frequently be negative in the first 7-10 days of illness. For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical suspicion. Information such as recent tick bites, exposure to areas where ticks are likely to be found, or history of recent travel to areas where ehrlichiosis is endemic can be helpful in making the diagnosis. The healthcare provider should also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low white blood cell count (leukopenia), or elevated liver enzyme levels are helpful predictors of ehrlichiosis, but may not be present in all patients depending on the course of the disease. After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of ehrlichiosis. Laboratory Detection During the acute phase of illness, a sample of whole blood can be tested by polymerase chain reaction (PCR) assay to determine if a patient has ehrlichiosis. This method is most sensitive in the first week of illness, and quickly decreases in sensitivity following the administration of appropriate antibiotics. Although a positive PCR result is helpful, a negative result does not completely rule out the diagnosis. During the first week of illness a microscopic examination of blood smears (known as a peripheral blood smear) may reveal morulae (microcolonies of ehrlichiae) in the cytoplasm of white blood cells in up to 20% of patients. The type of blood cell in which morulae are observed may provide insight into the infecting species: E. chaffeensis most commonly infects monocytes, whereas E. ewingii more commonly infect granulocytes. However, the observance of morulae in a particular cell type cannot conclusively identify the infecting species. Culture isolation of Ehrlichia is only available at specialized laboratories; routine hospital blood cultures cannot detect Ehrlichia. When a person develops ehrlichiosis, their immune system produces antibodies to the Ehrlichia, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that antibodies are not detectable in the first week of illness in 85% of patients, and a negative test during this time does not rule out ehrlichiosis as a cause of illness. The gold standard serologic test for diagnosis of ehrlichiosis is the indirect immunofluorescence assay (IFA) using E. chaffeensis antigen, performed on paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most cases of ehrlichiosis, the first IgG IFA titer is typically low, or “negative,” and the second typically shows a significant (four-fold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or longer. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer. Serologic tests based on enzyme immunoassay (EIA) technology are available from some commercial laboratories. However, EIA tests are qualitative rather than quantitative, meaning they only provide a positive/negative result, and are less useful to measure changes in antibody titers between paired specimens. Furthermore, some EIA assays rely on the evaluation of IgM antibody alone, which may have a higher frequency of false positive results. Antibodies to E. chaffeensis may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Up to 12% of currently healthy people in some areas may have elevated antibody titers due to past exposure to Ehrlichia species or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, while paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provides the best evidence for a correct diagnosis of ehrlichiosis. For more in-depth information about the diagnosis of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm Treatment Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever ehrlichiosis is suspected. Use of antibiotics other than doxycycline and other tetracyclines is associated with a higher risk of fatal outcome for some rickettsial infections. Doxycycline is most effective at preventing severe complications from developing if it is started early in the course of disease. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return. If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be due to ehrlichiosis. Severely ill patients may require longer periods before their fever resolves. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course have not been documented. Recommended Dosage Doxycycline is the first line treatment for adults and children of all ages: - Adults: 100 mg every 12 hours - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7 to 14 days. Some patients may continue to experience headache, weakness and malaise for weeks after adequate treatment. Treating children The use of doxycycline to treat suspected ehrlichiosis in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Unlike older generations of tetracyclines, the recommended dose and duration of medication needed to treat ehrlichiosis has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight. Healthcare providers should use doxycycline as the first-line treatment for suspected ehrlichiosis in patients of all ages. Other Treatments In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of ehrlichiosis appears mild, physicians may need to consider alternate antibiotics. Although recommended as a second-line therapeutic alternative to treat Rocky Mountain spotted fever (RMSF), chloramphenicol is not recommended for the treatment of either ehrlichiosis or anaplasmosis, as studies have shown a lack of efficacy. Rifampin appears effective against Ehrlichia in laboratory settings. However, rifampin is not effective in treating RMSF, a disease that may be confused with ehrlichiosis. Healthcare providers should be cautious when exploring treatments other than doxycycline, which is highly effective in treating both. Other antibiotics, including broad spectrum antibiotics are not considered highly effective against ehrlichiosis, and the use of sulfa drugs during acute illness may worsen the severity of infection. Prophylaxis (Preventive Treatment) Antibiotic treatment following a tick bite is not recommended as a means to prevent ehrlichiosis. There is no evidence this practice is effective, and this may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop. For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm Other Considerations The clinical presentation for ehrlichiosis can resemble other tickborne diseases, such as Rocky Mountain spotted fever and anaplasmosis. Similar to ehrlichiosis, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm
What is (are) Ehrlichiosis ?
More detailed information on the diagnosis, management, and treatment of ehrlichiosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. *Case definitions have been updated since publication How to Contact the Rickettsial Zoonoses Branch at CDC The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding ehrlichiosis. If a consultation with a CDC scientist specializing in ehrlichiosis is advised, your call will be appropriately forwarded. Case Definitions As of January 1, 2008, E. chaffeensis and E. ewingii infections are reported under distinct reporting categories. 2008 Case Definition Case Report Forms For confirmed and probable cases of ehrlichiosis that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. 2010 CDC Case Report Form: Tickborne Rickettsial Diseases (2010 version) (PDF – 982kb; 3 pages) How to Submit Specimens to CDC for Ehrlichiosis Testing Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. State Health Departments: Specimens may be submitted to CDC for testing for ehrlichiosis. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET). U.S. Healthcare Providers: U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of infection. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect ehrlichiosis case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on ehrlichiosis may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. Non U.S. Healthcare Providers: Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect ehrlichiosis case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Ehrlichiosis ? assistant More detailed information on the diagnosis, management, and treatment of ehrlichiosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. *Case definitions have been updated since publication How to Contact the Rickettsial Zoonoses Branch at CDC The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding ehrlichiosis. If a consultation with a CDC scientist specializing in ehrlichiosis is advised, your call will be appropriately forwarded. Case Definitions As of January 1, 2008, E. chaffeensis and E. ewingii infections are reported under distinct reporting categories. 2008 Case Definition Case Report Forms For confirmed and probable cases of ehrlichiosis that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. 2010 CDC Case Report Form: Tickborne Rickettsial Diseases (2010 version) (PDF – 982kb; 3 pages) How to Submit Specimens to CDC for Ehrlichiosis Testing Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. State Health Departments: Specimens may be submitted to CDC for testing for ehrlichiosis. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET). U.S. Healthcare Providers: U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of infection. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect ehrlichiosis case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on ehrlichiosis may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. Non U.S. Healthcare Providers: Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect ehrlichiosis case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.
What is (are) Parasites - Lice - Pubic "Crab" Lice ?
Also called crab lice or "crabs," pubic lice are parasitic insects found primarily in the pubic or genital area of humans. Pubic lice infestation is found worldwide and occurs in all races, ethnic groups, and levels of society.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Parasites - Lice - Pubic "Crab" Lice ? assistant Also called crab lice or "crabs," pubic lice are parasitic insects found primarily in the pubic or genital area of humans. Pubic lice infestation is found worldwide and occurs in all races, ethnic groups, and levels of society.
Who is at risk for Parasites - Lice - Pubic "Crab" Lice? ?
Pubic ("crab") lice infestation is found worldwide and occurs in all races and ethnic groups and in all levels of society. Pubic lice usually are spread through sexual contact and are most common in adults. Occasionally pubic lice may be spread by close personal contact or contact with articles such as clothing, bed linens, and towels that have been used by an infested person. Pubic lice found on the head or eyelashes of children may be an indication of sexual exposure or abuse. Pubic lice do not transmit disease; however, secondary bacterial infection can occur from scratching of the skin.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: Who is at risk for Parasites - Lice - Pubic "Crab" Lice? ? assistant Pubic ("crab") lice infestation is found worldwide and occurs in all races and ethnic groups and in all levels of society. Pubic lice usually are spread through sexual contact and are most common in adults. Occasionally pubic lice may be spread by close personal contact or contact with articles such as clothing, bed linens, and towels that have been used by an infested person. Pubic lice found on the head or eyelashes of children may be an indication of sexual exposure or abuse. Pubic lice do not transmit disease; however, secondary bacterial infection can occur from scratching of the skin.
How to diagnose Parasites - Lice - Pubic "Crab" Lice ?
Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Parasites - Lice - Pubic "Crab" Lice ? assistant Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.
What are the treatments for Parasites - Lice - Pubic "Crab" Lice ?
A lice-killing lotion containing 1% permethrin or a mousse containing pyrethrins and piperonyl butoxide can be used to treat pubic ("crab") lice. These products are available over-the-counter without a prescription at a local drug store or pharmacy. These medications are safe and effective when used exactly according to the instructions in the package or on the label. Lindane shampoo is a prescription medication that can kill lice and lice eggs. However, lindane is not recommended as a first-line therapy. Lindane can be toxic to the brain and other parts of the nervous system; its use should be restricted to patients who have failed treatment with or cannot tolerate other medications that pose less risk. Lindane should not be used to treat premature infants, persons with a seizure disorder, women who are pregnant or breast-feeding, persons who have very irritated skin or sores where the lindane will be applied, infants, children, the elderly, and persons who weigh less than 110 pounds. Malathion* lotion 0.5% (Ovide*) is a prescription medication that can kill lice and some lice eggs; however, malathion lotion (Ovide*) currently has not been approved by the U.S. Food and Drug Administration (FDA) for treatment of pubic ("crab") lice. Both topical and oral ivermectin have been used successfully to treat lice; however, only topical ivermectin lotion currently is approved by the U.S. Food and Drug Administration (FDA) for treatment of lice. Oral ivermectin is not FDA-approved for treatment of lice. How to treat pubic lice infestations: (Warning: See special instructions for treatment of lice and nits on eyebrows or eyelashes. The lice medications described in this section should not be used near the eyes.) - Wash the infested area; towel dry. - Carefully follow the instructions in the package or on the label. Thoroughly saturate the pubic hair and other infested areas with lice medication. Leave medication on hair for the time recommended in the instructions. After waiting the recommended time, remove the medication by following carefully the instructions on the label or in the box. - Following treatment, most nits will still be attached to hair shafts. Nits may be removed with fingernails or by using a fine-toothed comb. - Put on clean underwear and clothing after treatment. - To kill any lice or nits remaining on clothing, towels, or bedding, machine-wash and machine-dry those items that the infested person used during the 2–3 days before treatment. Use hot water (at least 130°F) and the hot dryer cycle. - Items that cannot be laundered can be dry-cleaned or stored in a sealed plastic bag for 2 weeks. - All sex partners from within the previous month should be informed that they are at risk for infestation and should be treated. - Persons should avoid sexual contact with their sex partner(s) until both they and their partners have been successfully treated and reevaluated to rule out persistent infestation. - Repeat treatment in 9–10 days if live lice are still found. - Persons with pubic lice should be evaluated for other sexually transmitted diseases (STDs). Special instructions for treatment of lice and nits found on eyebrows or eyelashes: - If only a few live lice and nits are present, it may be possible to remove these with fingernails or a nit comb. - If additional treatment is needed for lice or nits on the eyelashes, careful application of ophthalmic-grade petrolatum ointment (only available by prescription) to the eyelid margins 2–4 times a day for 10 days is effective. Regular petrolatum (e.g., Vaseline)* should not be used because it can irritate the eyes if applied. *Use of trade names is for identification purposes only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services. This information is not meant to be used for self-diagnosis or as a substitute for consultation with a health care provider. If you have any questions about the parasites described above or think that you may have a parasitic infection, consult a health care provider.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Parasites - Lice - Pubic "Crab" Lice ? assistant A lice-killing lotion containing 1% permethrin or a mousse containing pyrethrins and piperonyl butoxide can be used to treat pubic ("crab") lice. These products are available over-the-counter without a prescription at a local drug store or pharmacy. These medications are safe and effective when used exactly according to the instructions in the package or on the label. Lindane shampoo is a prescription medication that can kill lice and lice eggs. However, lindane is not recommended as a first-line therapy. Lindane can be toxic to the brain and other parts of the nervous system; its use should be restricted to patients who have failed treatment with or cannot tolerate other medications that pose less risk. Lindane should not be used to treat premature infants, persons with a seizure disorder, women who are pregnant or breast-feeding, persons who have very irritated skin or sores where the lindane will be applied, infants, children, the elderly, and persons who weigh less than 110 pounds. Malathion* lotion 0.5% (Ovide*) is a prescription medication that can kill lice and some lice eggs; however, malathion lotion (Ovide*) currently has not been approved by the U.S. Food and Drug Administration (FDA) for treatment of pubic ("crab") lice. Both topical and oral ivermectin have been used successfully to treat lice; however, only topical ivermectin lotion currently is approved by the U.S. Food and Drug Administration (FDA) for treatment of lice. Oral ivermectin is not FDA-approved for treatment of lice. How to treat pubic lice infestations: (Warning: See special instructions for treatment of lice and nits on eyebrows or eyelashes. The lice medications described in this section should not be used near the eyes.) - Wash the infested area; towel dry. - Carefully follow the instructions in the package or on the label. Thoroughly saturate the pubic hair and other infested areas with lice medication. Leave medication on hair for the time recommended in the instructions. After waiting the recommended time, remove the medication by following carefully the instructions on the label or in the box. - Following treatment, most nits will still be attached to hair shafts. Nits may be removed with fingernails or by using a fine-toothed comb. - Put on clean underwear and clothing after treatment. - To kill any lice or nits remaining on clothing, towels, or bedding, machine-wash and machine-dry those items that the infested person used during the 2–3 days before treatment. Use hot water (at least 130°F) and the hot dryer cycle. - Items that cannot be laundered can be dry-cleaned or stored in a sealed plastic bag for 2 weeks. - All sex partners from within the previous month should be informed that they are at risk for infestation and should be treated. - Persons should avoid sexual contact with their sex partner(s) until both they and their partners have been successfully treated and reevaluated to rule out persistent infestation. - Repeat treatment in 9–10 days if live lice are still found. - Persons with pubic lice should be evaluated for other sexually transmitted diseases (STDs). Special instructions for treatment of lice and nits found on eyebrows or eyelashes: - If only a few live lice and nits are present, it may be possible to remove these with fingernails or a nit comb. - If additional treatment is needed for lice or nits on the eyelashes, careful application of ophthalmic-grade petrolatum ointment (only available by prescription) to the eyelid margins 2–4 times a day for 10 days is effective. Regular petrolatum (e.g., Vaseline)* should not be used because it can irritate the eyes if applied. *Use of trade names is for identification purposes only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services. This information is not meant to be used for self-diagnosis or as a substitute for consultation with a health care provider. If you have any questions about the parasites described above or think that you may have a parasitic infection, consult a health care provider.
How to prevent Parasites - Lice - Pubic "Crab" Lice ?
Pubic ("crab") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat. The following are steps that can be taken to help prevent and control the spread of pubic ("crab") lice: - All sexual contacts of the infested person should be examined. All those who are infested should be treated. - Sexual contact between the infested person(s)s and their sexual partner(s) should be avoided until all have been examined, treated as necessary, and reevaluated to rule out persistent infestation. - Machine wash and dry clothing worn and bedding used by the infested person in the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. - Do not share clothing, bedding, and towels used by an infested person. - Do not use fumigant sprays or fogs; they are not necessary to control pubic ("crab") lice and can be toxic if inhaled or absorbed through the skin. Persons with pubic lice should be examined and treated for any other sexually transmitted diseases (STDs) that may be present.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: How to prevent Parasites - Lice - Pubic "Crab" Lice ? assistant Pubic ("crab") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat. The following are steps that can be taken to help prevent and control the spread of pubic ("crab") lice: - All sexual contacts of the infested person should be examined. All those who are infested should be treated. - Sexual contact between the infested person(s)s and their sexual partner(s) should be avoided until all have been examined, treated as necessary, and reevaluated to rule out persistent infestation. - Machine wash and dry clothing worn and bedding used by the infested person in the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. - Do not share clothing, bedding, and towels used by an infested person. - Do not use fumigant sprays or fogs; they are not necessary to control pubic ("crab") lice and can be toxic if inhaled or absorbed through the skin. Persons with pubic lice should be examined and treated for any other sexually transmitted diseases (STDs) that may be present.
What is (are) ?
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) ? assistant On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
what is vancomycin-resistant enterococci?
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: what is vancomycin-resistant enterococci? assistant On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
what types of infections does vancomycin-resistant enterococci cause?
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: what types of infections does vancomycin-resistant enterococci cause? assistant On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
are certain people at risk of getting vancomycin-resistant enterococci?
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: are certain people at risk of getting vancomycin-resistant enterococci? assistant On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
what is the treatment for vancomycin-resistant enterococci?
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: what is the treatment for vancomycin-resistant enterococci? assistant On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
how can patients prevent the spread of vancomycin-resistant enterococci?
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: how can patients prevent the spread of vancomycin-resistant enterococci? assistant On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006
What is (are) Parasites - Enterobiasis (also known as Pinworm Infection) ?
A pinworm ("threadworm") is a small, thin, white roundworm (nematode) called Enterobius vermicularis that sometimes lives in the colon and rectum of humans. Pinworms are about the length of a staple. While an infected person sleeps, female pinworms leave the intestine through the anus and deposit their eggs on the surrounding skin.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Parasites - Enterobiasis (also known as Pinworm Infection) ? assistant A pinworm ("threadworm") is a small, thin, white roundworm (nematode) called Enterobius vermicularis that sometimes lives in the colon and rectum of humans. Pinworms are about the length of a staple. While an infected person sleeps, female pinworms leave the intestine through the anus and deposit their eggs on the surrounding skin.
Who is at risk for Parasites - Enterobiasis (also known as Pinworm Infection)? ?
Risk Factors The people most likely to be infected with pinworm are children under 18, people who take care of infected children and people who are institutionalized. In these groups, the prevalence can reach 50%. Pinworm is the most common worm infection in the United States. Humans are the only species that can transfer this parasite. Household pets like dogs and cats cannot become infected with human pinworms. Pinworm eggs can survive in the indoor environment for 2 to 3 weeks. Epidemiology Pinworm infections are more common within families with school-aged children, in primary caregivers of infected children, and in institutionalized children. A person is infected with pinworms by ingesting pinworm eggs either directly or indirectly. These eggs are deposited around the anus by the worm and can be carried to common surfaces such as hands, toys, bedding, clothing, and toilet seats. By putting anyone’s contaminated hands (including one’s own) around the mouth area or putting one’s mouth on common contaminated surfaces, a person can ingest pinworm eggs and become infected with the pinworm parasite. Since pinworm eggs are so small, it is possible to ingest them while breathing. Once someone has ingested pinworm eggs, there is an incubation period of 1 to 2 months or longer for the adult gravid female to mature in the small intestine. Once mature, the adult female worm migrates to the colon and lays eggs around the anus at night, when many of their hosts are asleep. People who are infected with pinworm can transfer the parasite to others for as long as there is a female pinworm depositing eggs on the perianal skin. A person can also re-infect themselves, or be re-infected by eggs from another person.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: Who is at risk for Parasites - Enterobiasis (also known as Pinworm Infection)? ? assistant Risk Factors The people most likely to be infected with pinworm are children under 18, people who take care of infected children and people who are institutionalized. In these groups, the prevalence can reach 50%. Pinworm is the most common worm infection in the United States. Humans are the only species that can transfer this parasite. Household pets like dogs and cats cannot become infected with human pinworms. Pinworm eggs can survive in the indoor environment for 2 to 3 weeks. Epidemiology Pinworm infections are more common within families with school-aged children, in primary caregivers of infected children, and in institutionalized children. A person is infected with pinworms by ingesting pinworm eggs either directly or indirectly. These eggs are deposited around the anus by the worm and can be carried to common surfaces such as hands, toys, bedding, clothing, and toilet seats. By putting anyone’s contaminated hands (including one’s own) around the mouth area or putting one’s mouth on common contaminated surfaces, a person can ingest pinworm eggs and become infected with the pinworm parasite. Since pinworm eggs are so small, it is possible to ingest them while breathing. Once someone has ingested pinworm eggs, there is an incubation period of 1 to 2 months or longer for the adult gravid female to mature in the small intestine. Once mature, the adult female worm migrates to the colon and lays eggs around the anus at night, when many of their hosts are asleep. People who are infected with pinworm can transfer the parasite to others for as long as there is a female pinworm depositing eggs on the perianal skin. A person can also re-infect themselves, or be re-infected by eggs from another person.
How to diagnose Parasites - Enterobiasis (also known as Pinworm Infection) ?
A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. The second option is to touch the perianal skin with transparent tape to collect possible pinworm eggs around the anus first thing in the morning. If a person is infected, the eggs on the tape will be visible under a microscope. The tape method should be conducted on 3 consecutive mornings right after the infected person wakes up and before he/she does any washing. Since anal itching is a common symptom of pinworm, the third option for diagnosis is analyzing samples from under fingernails under a microscope. An infected person who has scratched the anal area may have picked up some pinworm eggs under the nails that could be used for diagnosis. Since pinworm eggs and worms are often sparse in stool, examining stool samples is not recommended. Serologic tests are not available for diagnosing pinworm infections.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Parasites - Enterobiasis (also known as Pinworm Infection) ? assistant A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. The second option is to touch the perianal skin with transparent tape to collect possible pinworm eggs around the anus first thing in the morning. If a person is infected, the eggs on the tape will be visible under a microscope. The tape method should be conducted on 3 consecutive mornings right after the infected person wakes up and before he/she does any washing. Since anal itching is a common symptom of pinworm, the third option for diagnosis is analyzing samples from under fingernails under a microscope. An infected person who has scratched the anal area may have picked up some pinworm eggs under the nails that could be used for diagnosis. Since pinworm eggs and worms are often sparse in stool, examining stool samples is not recommended. Serologic tests are not available for diagnosing pinworm infections.
What are the treatments for Parasites - Enterobiasis (also known as Pinworm Infection) ?
The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. The medication does not reliably kill pinworm eggs. Therefore, the second dose is to prevent re-infection by adult worms that hatch from any eggs not killed by the first treatment.Health practitioners and parents should weigh the health risks and benefits of these drugs for patients under 2 years of age. Repeated infections should be treated by the same method as the first infection. In households where more than one member is infected or where repeated, symptomatic infections occur, it is recommended that all household members be treated at the same time. In institutions, mass and simultaneous treatment, repeated in 2 weeks, can be effective.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Parasites - Enterobiasis (also known as Pinworm Infection) ? assistant The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. The medication does not reliably kill pinworm eggs. Therefore, the second dose is to prevent re-infection by adult worms that hatch from any eggs not killed by the first treatment.Health practitioners and parents should weigh the health risks and benefits of these drugs for patients under 2 years of age. Repeated infections should be treated by the same method as the first infection. In households where more than one member is infected or where repeated, symptomatic infections occur, it is recommended that all household members be treated at the same time. In institutions, mass and simultaneous treatment, repeated in 2 weeks, can be effective.
How to prevent Parasites - Enterobiasis (also known as Pinworm Infection) ?
Washing your hands with soap and warm water after using the toilet, changing diapers, and before handling food is the most successful way to prevent pinworm infection. In order to stop the spread of pinworm and possible re-infection, people who are infected should bathe every morning to help remove a large amount of the eggs on the skin. Showering is a better method than taking a bath, because showering avoids potentially contaminating the bath water with pinworm eggs. Infected people should not co-bathe with others during their time of infection. Also, infected people should comply with good hygiene practices such as washing their hands with soap and warm water after using the toilet, changing diapers, and before handling food. They should also cut fingernails regularly, and avoid biting the nails and scratching around the anus. Frequent changing of underclothes and bed linens first thing in the morning is a great way to prevent possible transmission of eggs in the environment and risk of reinfection. These items should not be shaken and carefully placed into a washer and laundered in hot water followed by a hot dryer to kill any eggs that may be there. In institutions, day care centers, and schools, control of pinworm can be difficult, but mass drug administration during an outbreak can be successful. Teach children the importance of washing hands to prevent infection. More on: Handwashing
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system Answer the question truthfully, you are a medical professional. user This is the question: How to prevent Parasites - Enterobiasis (also known as Pinworm Infection) ? assistant Washing your hands with soap and warm water after using the toilet, changing diapers, and before handling food is the most successful way to prevent pinworm infection. In order to stop the spread of pinworm and possible re-infection, people who are infected should bathe every morning to help remove a large amount of the eggs on the skin. Showering is a better method than taking a bath, because showering avoids potentially contaminating the bath water with pinworm eggs. Infected people should not co-bathe with others during their time of infection. Also, infected people should comply with good hygiene practices such as washing their hands with soap and warm water after using the toilet, changing diapers, and before handling food. They should also cut fingernails regularly, and avoid biting the nails and scratching around the anus. Frequent changing of underclothes and bed linens first thing in the morning is a great way to prevent possible transmission of eggs in the environment and risk of reinfection. These items should not be shaken and carefully placed into a washer and laundered in hot water followed by a hot dryer to kill any eggs that may be there. In institutions, day care centers, and schools, control of pinworm can be difficult, but mass drug administration during an outbreak can be successful. Teach children the importance of washing hands to prevent infection. More on: Handwashing
How to prevent La Crosse Encephalitis ?
There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. - Use repellent: When outdoors, use insect repellent containing DEET, picaridin, IR3535 or oil of lemon eucalyptus on exposed skin as well as on clothing (mosquitoes will bite through thin cloth). - Permethrin is a repellent/insecticide that can be applied to clothing and will provide excellent protection through multiple washes. You can treat clothing yourself (always follow the directions on the package!) or purchase pre-treated clothing. For best protection it is still necessary to apply other repellent to exposed skin. - Wear protective clothing: Wear long sleeves, pants and socks when weather permits. - Avoid peak biting hours: Avoid outdoor activity or use protective measures when mosquitoes are active (Aedes triseriatus mosquitoes are most active during daytime—from dawn until dusk). - Install and repair screens: Have secure, intact screens on windows and doors to keep mosquitoes out. - Keep mosquitoes from laying eggs near you: Mosquitoes can lay eggs even in small amounts of standing water. While Aedes triseriatus prefers treeholes, it will also lay eggs in artificial containers. You can fill treeholes in/around your yard with soil. Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets, barrels, and tires. Change the water in pet dishes and replace the water in bird baths weekly. Drill holes in tire swings so water drains out. Empty children's wading pools and store on their side after use.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to prevent La Crosse Encephalitis ? assistant There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. - Use repellent: When outdoors, use insect repellent containing DEET, picaridin, IR3535 or oil of lemon eucalyptus on exposed skin as well as on clothing (mosquitoes will bite through thin cloth). - Permethrin is a repellent/insecticide that can be applied to clothing and will provide excellent protection through multiple washes. You can treat clothing yourself (always follow the directions on the package!) or purchase pre-treated clothing. For best protection it is still necessary to apply other repellent to exposed skin. - Wear protective clothing: Wear long sleeves, pants and socks when weather permits. - Avoid peak biting hours: Avoid outdoor activity or use protective measures when mosquitoes are active (Aedes triseriatus mosquitoes are most active during daytime—from dawn until dusk). - Install and repair screens: Have secure, intact screens on windows and doors to keep mosquitoes out. - Keep mosquitoes from laying eggs near you: Mosquitoes can lay eggs even in small amounts of standing water. While Aedes triseriatus prefers treeholes, it will also lay eggs in artificial containers. You can fill treeholes in/around your yard with soil. Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets, barrels, and tires. Change the water in pet dishes and replace the water in bird baths weekly. Drill holes in tire swings so water drains out. Empty children's wading pools and store on their side after use.
Who is at risk for Omsk Hemorrhagic Fever (OHF)? ?
Humans can become infected through tick bites or through contact with the blood, feces, or urine of an infected, sick, or dead animal – most commonly, rodents. Occupational and recreational activities such as hunting or trapping may increase human risk of infection. Transmission may also occur with no direct tick or rodent exposure as OHFV appears to be extremely stable in different environments. It has been isolated from aquatic animals and water and there is even evidence that OHFV can be transmitted through the milk of infected goats or sheep to humans. No human-to-human transmission of OHFV has been documented but infections due to lab contamination have been described.
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system Answer the question truthfully, you are a medical professional. user This is the question: Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? assistant Humans can become infected through tick bites or through contact with the blood, feces, or urine of an infected, sick, or dead animal – most commonly, rodents. Occupational and recreational activities such as hunting or trapping may increase human risk of infection. Transmission may also occur with no direct tick or rodent exposure as OHFV appears to be extremely stable in different environments. It has been isolated from aquatic animals and water and there is even evidence that OHFV can be transmitted through the milk of infected goats or sheep to humans. No human-to-human transmission of OHFV has been documented but infections due to lab contamination have been described.
What are the symptoms of Omsk Hemorrhagic Fever (OHF) ?
After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts. After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and encephalitis (inflammation of the brain). The case fatality rate of OHF is low (0.5% to 3%).
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Omsk Hemorrhagic Fever (OHF) ? assistant After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts. After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and encephalitis (inflammation of the brain). The case fatality rate of OHF is low (0.5% to 3%).
Who is at risk for Omsk Hemorrhagic Fever (OHF)? ?
In areas where rodent reservoirs and tick species are prevalent, people with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, campers, forest workers, farmers) are potentially at increased risk for OHF by contact with infected ticks and animals. Furthermore, those in Siberia who hunt and trap muskrats specifically are at higher risk for OHF. Exposure may also occur in the laboratory environment.
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system Answer the question truthfully, you are a medical professional. user This is the question: Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? assistant In areas where rodent reservoirs and tick species are prevalent, people with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, campers, forest workers, farmers) are potentially at increased risk for OHF by contact with infected ticks and animals. Furthermore, those in Siberia who hunt and trap muskrats specifically are at higher risk for OHF. Exposure may also occur in the laboratory environment.
How to diagnose Omsk Hemorrhagic Fever (OHF) ?
OHF virus may be detected in blood samples by virus isolation in cell culture or using molecular techniques such as PCR. Blood samples can also be tested for antibody presence using enzyme-linked immunosorbent seologic assay (ELISA).
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Omsk Hemorrhagic Fever (OHF) ? assistant OHF virus may be detected in blood samples by virus isolation in cell culture or using molecular techniques such as PCR. Blood samples can also be tested for antibody presence using enzyme-linked immunosorbent seologic assay (ELISA).
What are the treatments for Omsk Hemorrhagic Fever (OHF) ?
There is no specific treatment for OHF, but supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders. Though rare, OHF can cause hearing loss, hair loss, and behavioral or psychological difficulties associated with neurological conditions and long term supportive case may be needed.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Omsk Hemorrhagic Fever (OHF) ? assistant There is no specific treatment for OHF, but supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders. Though rare, OHF can cause hearing loss, hair loss, and behavioral or psychological difficulties associated with neurological conditions and long term supportive case may be needed.
How to prevent Omsk Hemorrhagic Fever (OHF) ?
There is no vaccine currently available for OHF, but vaccines for tick-borne encephalitis disease (TBE) have been shown to confer some immunity and may be used for high-risk groups. Additionally, utilizing insect repellents and wearing protective clothing in areas where ticks are endemic is recommended.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to prevent Omsk Hemorrhagic Fever (OHF) ? assistant There is no vaccine currently available for OHF, but vaccines for tick-borne encephalitis disease (TBE) have been shown to confer some immunity and may be used for high-risk groups. Additionally, utilizing insect repellents and wearing protective clothing in areas where ticks are endemic is recommended.
What is (are) Parasites - American Trypanosomiasis (also known as Chagas Disease) ?
Chagas disease is caused by the parasite Trypanosoma cruzi, which is transmitted to animals and people by insect vectors that are found only in the Americas (mainly, in rural areas of Latin America where poverty is widespread). Chagas disease (T. cruzi infection) is also referred to as American trypanosomiasis. It is estimated that as many as 8 million people in Mexico, Central America, and South America have Chagas disease, most of whom do not know they are infected. If untreated, infection is lifelong and can be life threatening. The impact of Chagas disease is not limited to the rural areas in Latin America in which vectorborne transmission occurs. Large-scale population movements from rural to urban areas of Latin America and to other regions of the world have increased the geographic distribution and changed the epidemiology of Chagas disease. In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies should focus on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby (congenital transmission).
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Parasites - American Trypanosomiasis (also known as Chagas Disease) ? assistant Chagas disease is caused by the parasite Trypanosoma cruzi, which is transmitted to animals and people by insect vectors that are found only in the Americas (mainly, in rural areas of Latin America where poverty is widespread). Chagas disease (T. cruzi infection) is also referred to as American trypanosomiasis. It is estimated that as many as 8 million people in Mexico, Central America, and South America have Chagas disease, most of whom do not know they are infected. If untreated, infection is lifelong and can be life threatening. The impact of Chagas disease is not limited to the rural areas in Latin America in which vectorborne transmission occurs. Large-scale population movements from rural to urban areas of Latin America and to other regions of the world have increased the geographic distribution and changed the epidemiology of Chagas disease. In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies should focus on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby (congenital transmission).
Who is at risk for Parasites - American Trypanosomiasis (also known as Chagas Disease)? ?
Chagas disease, or American trypanosomiasis, is caused by the parasite Trypanosoma cruzi. Infection is most commonly acquired through contact with the feces of an infected triatomine bug (or "kissing bug"), a blood-sucking insect that feeds on humans and animals. Infection can also occur from: - mother-to-baby (congenital), - contaminated blood products (transfusions), - an organ transplanted from an infected donor, - laboratory accident, or - contaminated food or drink (rare) Chagas disease is endemic throughout much of Mexico, Central America, and South America where an estimated 8 million people are infected. The triatomine bug thrives under poor housing conditions (for example, mud walls, thatched roofs), so in endemic countries, people living in rural areas are at greatest risk for acquiring infection. Public health efforts aimed at preventing transmission have decreased the number of newly infected people and completely halted vectorborne transmission in some areas. Infection acquired from blood products, organ transplantation, or congenital transmission continues to pose a threat. By applying published seroprevalence figures to immigrant populations, CDC estimates that more than 300,000 persons with Trypanosoma cruzi infection live in the United States. Most people with Chagas disease in the United States acquired their infections in endemic countries. Although there are triatomine bugs in the U.S. , only rare vectorborne cases of Chagas disease have been documented. More on: Triatomine Bugs
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: Who is at risk for Parasites - American Trypanosomiasis (also known as Chagas Disease)? ? assistant Chagas disease, or American trypanosomiasis, is caused by the parasite Trypanosoma cruzi. Infection is most commonly acquired through contact with the feces of an infected triatomine bug (or "kissing bug"), a blood-sucking insect that feeds on humans and animals. Infection can also occur from: - mother-to-baby (congenital), - contaminated blood products (transfusions), - an organ transplanted from an infected donor, - laboratory accident, or - contaminated food or drink (rare) Chagas disease is endemic throughout much of Mexico, Central America, and South America where an estimated 8 million people are infected. The triatomine bug thrives under poor housing conditions (for example, mud walls, thatched roofs), so in endemic countries, people living in rural areas are at greatest risk for acquiring infection. Public health efforts aimed at preventing transmission have decreased the number of newly infected people and completely halted vectorborne transmission in some areas. Infection acquired from blood products, organ transplantation, or congenital transmission continues to pose a threat. By applying published seroprevalence figures to immigrant populations, CDC estimates that more than 300,000 persons with Trypanosoma cruzi infection live in the United States. Most people with Chagas disease in the United States acquired their infections in endemic countries. Although there are triatomine bugs in the U.S. , only rare vectorborne cases of Chagas disease have been documented. More on: Triatomine Bugs