11 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Hypocalcemia - Differential Diagnosis Algorithm - Low and High PTH
LOW PTH - Hypoparathyroid
 - Congenital (Pediatric)
- Congenital (Pediatric ... bypass • Liver ... Tumor lysis syndrome ... Algorithm #PTH #endocrinology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... Carpal Tunnel Syndrome ... signs #symptoms #endocrinology ... #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Malignant Adrenal Mass - Differential Diagnosis Algorithm
Suggestive of Malignancy: Inhomogenous Density, Delay in CT Contrast Washout
Hypointense to Liver ... Polycystic Ovarian Syndrome ... High Plasma E2 + Clinical ... Diagnosis #Algorithm #Endocrinology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Thiamine Deficiency - Differential Diagnosis Framework and Clinical Manifestations

Causes of Thiamine Deficiency:
 • Poor intake:
	- Diets
Framework and Clinical ... - Refeeding syndrome ... • Korsakoff Syndrome ... GFR • Acute liver ... beriberi #nutrition #pathophysiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Floppy Baby Syndrome ... • Infantile Botulism ... Myasthenia Gravis Clinical ... #Floppy #Baby #Syndrome ... #pediatrics #differential
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... Specific sarcoidosis syndromes ... • Heerfordt syndrome