19 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
Pathogenesis and Clinical ... N/V, elevated liver ... diagnosis #signs #symptoms ... #pathophysiology
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Maternal Support - Critical ... diagnosis #management #pathophysiology
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... cycle found in the liver ... presentation - Clinical ... also includes symptoms
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... HLH signs and symptoms ... Diagnosis via genetic ... lymph node, or liver
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
CHOLANGITIS - Genetic ... indications for liver ... Care focuses on symptom ... and end-stage liver ... remain subject to clinical
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms