26 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... pathophysiology #peds ... #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... Early diagnosis ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Clinical Features and Complications of Measles

Rash:
Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... #Measles #Diagnosis ... Kopliks KoplikSpots #Peds ... #Pediatrics #Timeline ... #Signs #Symptoms
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Pathogenesis and Clinical ... sensory • Before diagnosis ... intervertebral disc disease ... MeralgiaParesthetica #MSK ... #signs #symptoms
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 ... Hirsutism & acne • Infertility ... endocrinology #peds ... #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... chromosome 21) Signs ... #diagnosis #signs ... #symptoms
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

**
Clinical features ... of Liver Disease ... #LiverFailure #Signs ... #Findings #Diagnosis ... #Peds #Pediatrics
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
neurodegenerative disease ... Multiple Sclerosis Diagnosis ... Signs and symptoms ... patients with clinically ... stimulation Clinical
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... pain (20%) Renal disease ... erythematosus #signs ... #symptoms #diagnosis ... #rheumatology
Gout (Gouty Arthritis) - MSK Radiology
Imaging Findings:
 • Eccentric soft-tissue densities surrounding the third proximal interphalangeal
Gouty Arthritis) - MSK ... mass and NO prior signs ... - **MSK rads ... diffuse chondral disease ... #msk #rheumatology