11 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Algorithm for the management of children with nephrotic syndrome and steroid resistant nephrotic syndrome (SRNS)

#nephrotic #syndrome
Algorithm for the management ... with nephrotic syndrome ... #nephrotic #syndrome ... steroid #resistant #nephrology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... palliation • Post-Op Management ... Fallot #diagnosis #management ... cardiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Guillain-Barre Pathophysiology ... Miller Fisher Syndrome ... #diagnosis #management ... #treatment #neurology
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Demyelinating Syndrome ... Disease, PRES Pathophysiology ... Erythematosus #SLE #CNS #neurology ... cerebritis #diagnosis #management
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Stiff Person Syndrome ... Diagnosis and Management ... Pathophysiology ... SPS #Diagnosis #Management ... #treatment #neurology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... may precede the neurologic ... Etiology: • Pathophysiology ... #diagnosis #management ... #neurology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... malignancy Pathophysiology ... Beckwith Wiedemann syndrome ... #Endocrinology ... #Treatment #Pathophysiology
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... the underlying pathophysiology ... Guillain #Barre #Syndrome ... #diagnosis #management ... #neurology