9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Approach to Headaches - Differential Diagnosis Algorithm

Red flags (PHANTOMS):
 • Pattern change, progressively worse, papilledema
 •
- Differential Diagnosis ... Algorithm Red ... papilledema • Horner syndrome ... ) • Systemic symptoms ... #Algorithm #neurology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... • Central Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #orthopedics #neurology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... #neurology
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
- Differential Diagnosis ... and signs below ... MCTD, Sjogren syndrome ... #neurology #differential ... #algorithm
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... Complications #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry
Hemophagocytic Lymphohistiocytosis (HLH)

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