1622 results
clinical diagnosis video physicalexam nephrology differential algorithm management causes syndrome urology ophthalmology sign reflex pathophysiology treatment ocular pediatrics anatomy renal
Ocular Flutter The video shows the presence of ocular flutter in a patient with progressive ataxia
ataxia with an autosomal ... ophthalmology #neurology
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 BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
mutations • Autosomal ... OPA1) gene • Autosomal ... BEE #Syndromes #neurology
Myoclonus-Dystonia on Physical Exam Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
alcohol & may be autosomal ... clinical #video #neurology
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 Myoclonus-Dystonia on Physical Exam Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
alcohol & may be autosomal ... clinical #video #neurology
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 Bilateral Foot Drop secondary to Nonaka Myopathy 48 yr old lady, difficulty in climbing stairs x 8
- Heterozygous Autosomal ... physicalexam #gait #neurology
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 Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
fibrillin function - Autosomal
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Genetically determined: Autosomal ... dominant, Autosomal
Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population
syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal
Classification of Diabetes Insipidus Central or neurogenic diabetes insipidus: - Congenital - Structural malformations affecting the hypothalamus
or pituitary, Autosomal ... in AVPR2 gene, Autosomal ... Classification #Types #Nephrology
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