29 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
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of UMN and LMN signs ... fasciculations Common Symptoms ... of UMN and LMN signs ... both UMN and LMN signs ... EMG: LMN Signs in
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
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
Examination: • UMN signs ... Clonus, Babinski’s sign ... • Lhermitte’s sign ... pupillary defect SIGNS ... Signs and symptoms
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
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
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
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