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Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... =>Prader-Willi Syndrome ... Signs/Symptoms ... /Complications:
Neuromyelitis Optica (NMO) - Clinical Manifestations • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... Other brainstem syndromes ... pain • Extra-CNS complications ... erythematosus, Sjögren syndrome ... diagnosis #neurology #symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... / Complications ... diagnosis #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Pathogenesis and Clinical ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... / Complications
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... may cause severe clinical ... complications. ... overload) Other Symptoms ... • Nephrotic syndrome
Chronic Lymphocytic Leukemia - Summary Cancer affecting lymphocytes/Mature B cell neoplasm • Lymphocytes accumulate in large numbers
Orange or Hep C Clinical ... with no early symptoms ... kinase (BTK) Complications ... • Richter’s Syndrome ... leukemia • Sezary syndrome
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary Causes of Rhabdomyolysis: • Trauma: - Immobilization - Crush injury - Compartment
- Compartment syndrome ... Dermatomyositis Clinical ... : • Triad of symptoms ... urine • Other symptoms ... HAGMA • Late complication
Esophageal Necrosis Etiology: - Ischemia and Gastric Outlet Obstruction with GERD may be inciting events - Associated
Stevens-Johnson syndrome ... restored to esophagus Clinical ... melena - Other GI symptoms ... supportive care Complications ... common long term complication
Clinical Feature of Hypomagnesemia and Magnesium Deficiency • Electrolyte Disturbance: Hypokalemia, Hypocalcemia • Neuromuscular and central
Clinical Feature ... sensitivity • Complications ... Chronic fatigue syndrome ... diagnosis #signs #symptoms
Ramsay Hunt Syndrome - Herpes Zoster Oticus Triad: 1. Ipsilateral facial paralysis 2. Ear pain 3. Vesicles
Ramsay Hunt Syndrome ... and auricle Complications ... Guillain-Barré syndrome ... • Stroke syndromes ... Oticus #Diagnosis #Symptoms
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