20 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... = nonspecific (nausea ... 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 ... enzyme 21-OHase causes ... #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 ... Alzheimer's (99% of cases ... Alzheimer's (1% of cases ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... Dementia - 2nd cause ... Workup #Diagnosis #Geriatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... phenytoin, minoxidil), genetic ... or refractory cases
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... Sign #Meningitis #Clinical ... #PhysicalExam #Pediatrics
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
countries (11-24 cases ... survival is 93-95% Pathophysiology ... renal failure Clinical ... symptoms are not caused ... heart (2-5%), liver
Disseminated Intravascular Coagulation (DIC) Overview

Increased Clotting and Consumption of Clotting Factors

Findings:
 • Bleeding
 • Recent history
protein C and S Pathophysiology ... organ damage Clinical ... DIC • Severe Liver ... Treat primary cause ... Coagulation #diagnosis #causes
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... periumbilical region), nausea ... HenochScholeinPurpura #Pathophysiology