7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... deficiency: - Short ... #FeedbackLoop #endocrinology ... #pathophysiology
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
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Diagnosis and Management ... Clinical Signs/Symptoms ... back pain - Symptoms ... decreased reflexes Pathophysiology ... Residency @CMC_IM #Potts
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... #Endocrinology ... #Treatment #Pathophysiology
Mycoses

HISTOPLASMOSIS
• Inhalation of conidia → Yeast → travel to lymph nodes → spread in body
• Bird
acute respiratory symptoms ... Rheumatologic symptoms ... Inhalation of spores ... Aspergillosis Pathophysiology ... Fungal #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology ... Approach • Initial management