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diagnosis management genetics neurology syndrome 21hydroxylasedeficiency 21ohd alzheimersdisease brudzinskis bullous clinical dementia dermatology diabetes diabeticketoacidosis differential dka encephalopathy features geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Features of a Sickle Cell Crisis Sickle-cell disease - an autosomal recessive blood disorder. Characterized by red
Crises can be precipitated ... The underlying pathophysiology ... to ischaemia. 2) ... #Features #Signs ... #Symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
disomy: inheriting 2 ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Presenilin 1 and 2 ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... young (less than 2 ... #PhysicalExam #Pediatrics ... #Peds
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 Bullous Pemphigoid - Diagnosis and Management Summary Pathophysiology: Autoantibody-mediated damage to epithelial basement membrane -> separation of
Management Summary Pathophysiology ... dermis Clinical Signs ... /Symptoms/Exam findings ... - Erosions and crusts ... topical steroids 2.
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
- 2/3 both bacterial ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings • Note: in DKA, body K+ is lost
out of cells may cause ... 1) +++ fluids. 2) ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Pheochromocytoma - Diagnosis and Management Summary 10 percent rule = 10% of pheochromocytomas are extra-adrenal, multiple, bilateral,
bilateral, malignant, pediatric ... cases, not associated ... life • M=F Symptoms ... and Signs: 50% ... and signs: •
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
• Hypertensive crisis ... Etiology: • Pathophysiology ... Neurological symptoms ... the underlying cause ... until cause identified
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