21 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Polycythemia (Erythrocytosis) - Differential Diagnosis Algorithm
Relative - Normal RBC Mass / Decreased Plasma Volume
Causes of Polycythemia ... Erythrocytosis) - Differential ... Diagnosis Algorithm ... Idiopathic JAK-2 ... Chronic Chest Symptoms
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework

Heat Cramps:
 • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... encephalopathy) 2.
Post-Transplantation Lymphoproliferative Disorders (PTLD)
Definition: Lymphoid and/or plasmacytic proliferations that occur as a result of immunosuppression in
incidence in lung>heart ... EBV viral load, signs ... /symptoms 2/2 infiltration ... Diagnosis and classification ... to 50% of PTLD cases
Causes of Peripheral and Central Vertigo
PERIPHERAL VERTIGO
1. Benign paroxysmal positional vertigo (BPPV) - Short-lived (typically less
older adults. 2. ... Head trauma - Symptoms ... shortly after head ... varying neurologic signs ... #differential #
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
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
loss of autonomy 2) ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification
Polyarteritis Nodosa (PAN): Pathogenesis and Clinical Findings

Medical Comorbidities Malignancies (most commonly hairy-cell leukemia)
Immunogenetic Predisposition: patient is
- Postulate 2 ... Viral replication causes ... Myocardial ischemia - Heart ... #Diagnosis #Signs ... #Symptoms #Vasculitis
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... are not caused ... posterior MSK, heart ... Diagnosis #Management #Signs ... #Symptoms
Attention Deficit Hyperactive Disorder (ADHD): Pathogenesis and clinical findings
 - For diagnosis, must have either 26
presenting in >2 ... quietly • Leaves seat ... their turn • Causes ... BehavioralDisorder #Pathophysiology ... #signs #psychiatry