23 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... delayed puberty -> Infertility ... 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
Sarcoidosis 
Non-caseating granulomas (Composed of T-helper & inflammatory cells) 
Clinical:
 • Disease fatal in 10% of
inflammatory cells) Clinical ... : • Disease fatal ... exertion • Neurologic ... #Sarcoidosis #Diagnosis ... #Symptoms #Signs
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
Lyme Disease: Early and Late Clinical manifestations
Stage 1. Localized
 • EM appears 7-14 days at the
Lyme Disease: Early ... and Late Clinical ... • Heralded by neurologic ... #diagnosis #signs ... #symptoms
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
neurodegenerative disease ... Signs and symptoms ... patients with clinically ... stimulation Clinical ... #management #neurology
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... mainly AQP4-lgG disease ... Manifestations #diagnosis ... #neurology #symptoms ... #signs