49 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 ... delayed puberty -> Infertility ... #peds #pediatrics
Cubital Tunnel Syndrome: Pathogenesis and clinical findings

 • Paresthesia of 5th and medial half of 4th
Pathogenesis and clinical ... CubitalTunnel #Syndrome #Diagnosis ... #pathophysiology ... #signs #symptoms ... #msk
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
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Pathogenesis and Clinical ... intervertebral disc disease ... MeralgiaParesthetica #MSK ... #pathophysiology ... #signs #symptoms
Spondylolysis & Spondylolisthesis: Pathogenesis and Clinical Findings

Pars interarticularis stress fracture (spondylolysis) - most frequently in the
Pathogenesis and Clinical ... XR — scotty dog sign ... Spondylolisthesis #MSK ... #diagnosis #pathophysiology ... #signs #symptoms
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
Patellofemoral Syndrome - Pathogenesis and clinical findings
 • Anterior Knee Pain with possible symptoms of 'catching'
Pathogenesis and clinical ... with possible symptoms ... Patellofemoral #Syndrome #pathophysiology ... #diagnosis #signs ... #symptoms #msk
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #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
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... in GBA1 gene Clinical ... #Diagnosis #Signs ... #Symptoms