30 results
diagnosis signs management neurology pediatrics differential syndrome kawasaki manifestations treatment ankylosingspondylitis features ophthalmology 21hydroxylasedeficiency 21ohd acute agammaglobulinemia algorithm als alzheimersdisease
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Kawasaki Disease ... lethal cardiac complications ... #Kawasaki #Disease ... Features #Signs #Symptoms ... #Diagnosis #Peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... chromosome 21) Signs / Symptoms ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
Ankylosing Spondylitis: Pathogenesis and Clinical findings • Pain in lumbar area and gluteal region: (Dull, insidious
more constant as disease ... column) • Late complication ... AnkylosingSpondylitis #pathophysiology ... diagnosis #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Neuromyelitis Optica (NMO) - Clinical Manifestations • Optic neuritis: Reduced visual acuity, ranging from mild to
mainly AQP4-lgG disease ... mainly MOG-lgG disease ... pain • Extra-CNS complications ... Manifestations #diagnosis #neurology ... #symptoms #signs
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... and less common diseases ... infections • Lyme disease ... meningitis • Genetic
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