8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Noncardiogenic Pulmonary Edema - Differential Diagnosis Framework

NCPE Pathophysiology:
Noncardiogenic pulmonary edema occurs because of excessive pulmonary capillary
Edema - Differential ... Framework NCPE Pathophysiology ... Causes include: ... left ventricular function ... PCWP < 18 mmHg Etiology
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
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... impaired executive functions ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... cardiomyopathy • Pulmonary ... Genetic predisposition ... studies show no ↓ LV function
Lung Abscess - Diagnosis and Management Summary

Lung Abscess Etiology:
 • Necrosis of lung parenchyma by a
Lung Abscess Etiology ... • Most common cause ... Lung Abscess Pathophysiology ... Lung Abscess - Clinical ... Lung #Abscess #pulmonary
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Hypercalcemia Etiology ... : • Pathophysiology ... Reversible course Differential ... the underlying cause ... until cause identified
Peripartum Cardiomyopathy (PPCM)

What is PPCM?
• A form of acute systolic heart failure that develops late in
Cesarean delivery Clinical ... Key Point: High clinical ... Susceptibility • Genetic ... , selenium) Differential ... recovery of cardiac function