22 results
diagnosis management neurology causes signs endocrinology pediatrics treatment 21hydroxylasedeficiency 21ohd abdominal acromegaly agammaglobulinemia als alzheimersdisease amyotrophic anemia anxiety aortoenteric aplastic
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... , vomiting • Late ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... Risk factor for Late ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... endocrinology #pathophysiology
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 ... meningitis • Genetic ... MRI lesions and clinical ... noninflammatory #differential
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... deficiency (thiamine) Late ... overload) Other Symptoms ... #Nutrition #Differential ... #Diagnosis #Pathophysiology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary Causes of Rhabdomyolysis: • Trauma: - Immobilization - Crush injury - Compartment
Rhabdomyolysis - Differential ... Dermatomyositis Clinical ... : • Triad of symptoms ... • Hypocalcemia/Late ... • HAGMA • Late
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... Ehlers-Danlos syndrome ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Constitutional Syndromes ... Aplastic Anemia Clinical ... skin color • Difficulty ... : - Genetic lesions ... • Improve the symptoms
Rare Causes of Abdominal Pain • Hereditary Angioneurotic Edema - Recurrent visceral that may by swelling
- May involve symptoms ... neuropsychiatric symptoms ... incisional hernias: clinical ... Spigelian hemias rnay difficult ... Abdominal #Pain #differential
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