8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
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 ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... and treatment can ... meningitis • Genetic ... MRI lesions and clinical
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... an underlying genetic ... HLH signs and symptoms ... Diagnosis via genetic
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... Neurological symptoms ... epilepticus Treatment ... underlying cause • Treatment ... Seizures: Treat with AEDs
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Aplastic Anemia Clinical ... : - Genetic lesions ... aplastic anemia Treatment ... • Improve the symptoms ... oncology #hematology #diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... #Management #Endocrinology ... #Treatment #Pathophysiology