10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Epidemiology: • 1-2 cases ... Pathophysiology ... #Barre #Syndrome ... management #treatment #neurology
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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
hypertension and signs ... renal bruit or signs ... Vasculitis • Endocrinologic ... Neurologic disorders ... dysautonomia, and Guillain-Barre
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... Incidence: 1 to 2 cases ... the underlying pathophysiology ... #Barre #Syndrome ... diagnosis #management #neurology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... periumbilical region), nausea ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... or refractory cases ... Diagnosis #Management #Endocrinology
The Neurological Evaluation of a Comatose Patient

Definition:
 • Coma: a state of unresponsiveness; the absence of
• Locked-in syndrome ... • Mutism Pathophysiology ... • Examine for signs ... Casey Albin MD @ ... #PhysicalExam #neurology
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... hormone levels cause ... Complications #pathophysiology ... #diagnosis #signs