13 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... sleep apnea, cor pulmonale ... #genetics #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Total Anomalous Pulmonary ... Introduction • Classification ... • Pathophysiology ... Classic “snowman sign ... cardiology #peds #pediatrics
Shock Classification Types - Pathophysiology Comparison

Obstructive Shock:
 • Obstructive shock is characterized by a blockage in
Shock Classification ... Types - Pathophysiology ... Comparison Obstructive ... in blood flow caused ... Pulmonary embolism
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
accounts for —9096 of cases ... Pathophysiology ... onset widespread pulmonary ... #Diagnosis #Signs ... #Symptoms
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
extrapulmonary cases ... Clinical Signs ... years - May have signs ... pulmonary TB PE ... decreased reflexes Pathophysiology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... #Signs #Symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Alzheimer - 1st cause ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... Differential #Subtypes #Classification
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... WBC >100k, + lab signs ... : • Pathophysiology ... TLS #diagnosis #management
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics