17 results
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
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... Carpal Tunnel Syndrome ... Cardiovascular disease ... diagnosis #signs #symptoms ... #endocrinology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... CNS symptoms (headache ... (Clinical Dx). ... #diagnosis #management ... #signs #symptoms
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Adrenal Insufficiency - Diagnosis and Management Summary
Primary Adrenal Insufficiency:
Most Common Cause in the US: Autoimmune Adrenalitis
Other
Diagnosis and Management ... ketoconazole, etomidate) Symptoms ... hypophysitis, Sheehan's syndrome ... Give 250 mcg of ... #Endocrinology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... Anterior circulation: MCA ... #diagnosis #management
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
Framework and Management ... Dermatomyositis Clinical ... : • Triad of symptoms ... urine • Other symptoms ... of underlying disease
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Diagnosis and Management ... Pathophysiology ... Clinical Manifestations ... Anti-GAD Ab (>1000u/ml ... SPS #Diagnosis #Management
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... Beckwith Wiedemann syndrome ... levels to <1ng/mL ... #Endocrinology