14 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... lethal cardiac complications ... #Kawasaki #Disease ... Features #Signs #Symptoms ... #Diagnosis #Peds
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 less common diseases ... infections • Lyme disease ... meningitis • Genetic
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
mainly AQP4-lgG disease ... (AQP4-lgG disease ... pain • Extra-CNS complications ... Manifestations #diagnosis #neurology ... #symptoms #signs
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... mutations - Down syndrome ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... severe clinical complications ... due to chronic disease ... overload) Other Symptoms ... Differential #Diagnosis #Pathophysiology
Neurological Manifestations of Tuberculosis
Spinal Arachnoiditis & Polyradiculopathy:
 • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
lesion Pott's Disease ... Reconstitution Inflammatory Syndrome ... previous neurologic symptoms ... • Usually is a complication ... differential #TB #neurology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
: • Triad of symptoms ... urine • Other symptoms ... HAGMA • Late complication ... of underlying disease ... causes #treatment #nephrology