33 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... =>Prader-Willi Syndrome ... Signs/Symptoms ... pathophysiology #peds
Problem Representation

An evolving summary of a patient’s clinical presentation that strives to identify 
(1) Clinical syndrome
of a patient’s clinical ... identify (1) Clinical ... syndrome (signs ... /symptoms), (2) ... One-liner at start of Assessment
Management of Serotonin Syndrome
Identify and stop all serotoninergic medications
 • Avoid inadvertent Rx of serotoninergic meds
Management of Serotonin ... Syndrome Identify ... serotoninergic meds ... normalize vital signs ... then 2 mg q2h if symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology
Clinically Important Vitamins and Vitamin Deficiency States
Fat-soluble Vitamins: 
 • Vitamin A - Xerophthalmia, night blindness,
Clinically Important ... Wernicke-Korsakoff syndrome ... Vitamins #Deficiency #differential ... #diagnosis #signs ... #symptoms #nutrition
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... Signs and symptoms ... patients with clinically ... stimulation Clinical ... sclerosis #diagnosis #management
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
life-threatening Differential ... test - Cogan sign ... - Peek sign ... immunosuppressants - Meds ... Gravis #diagnosis #management
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... (Clinical Dx). ... Behcet disease) Differential ... #diagnosis #management ... #signs #symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... neuropsychological assessment ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... MNCD #Dementia #Differential