12 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
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... accounts for —9096 of cases ... Pathophysiology ... onset widespread pulmonary ... #Diagnosis #Signs
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Causes of Sudden ... Arrhythmia • Neurologic ... Anomaly • Pulmonary ... Sudden Infant Death Syndrome ... #Peds #Pediatrics
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
hypertension and signs ... heart failure, neurologic ... renal bruit or signs ... apnea: CPAP, most pts ... Neurologic disorders
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 ... diagnosis #management #hematology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... symptoms are not caused ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... Diagnosis #Management #Signs
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Demyelinating Syndrome ... Disease, PRES Pathophysiology ... autoantibodies that will cause ... Erythematosus #SLE #CNS #neurology ... #rheumatology #
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Stiff Person Syndrome ... Prevalence: 1-2 cases ... Pathophysiology ... positive in 2/3 of pts ... Management #treatment #neurology
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
purpura: Strong sign ... May develop in pts ... affects the skin, neurologic ... tract, and often causes ... Differential #Diagnosis #Rheumatology
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
progressing GN • New pulmonary ... tract, and often causes ... • Cogan Syndrome ... purpura: strong sign ... differential #diagnosis #rheumatology