10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... pathophysiology #peds ... #pediatrics
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... #LiverFailure #Signs ... #Symptoms #PhysicalExam ... #Pediatrics #Hepatology
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
Kawasaki Disease - Timeline of Clinical Features and Complications
 - Fever >5 days 
 - 4
Kawasaki Disease ... - Timeline of Clinical ... Timeline #Features #Signs ... #Symptoms #Peds ... #Pediatrics
Pseudogout: pathogenesis and clinical findings
 - Idiopathic (vast majority of cases) -> Mechanism unknown
 - Familial
pathogenesis and clinical ... high-resolution ultrasound ... PAINFUL, warm, swollen ... Pseudogout #CPPD #Disease ... #Signs #Symptoms
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of UMN and LMN signs ... 4) progressive muscular ... of UMN and LMN signs ... both UMN and LMN signs ... EMG: LMN Signs in
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... skin injury) • Neurologic ... Behcet syndrome (Clinical ... diagnosis #management #signs ... #symptoms #rheumatology
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
neurological lesion: Clinical ... and signs below ... Vascular/Blockage ... Sarcoidosis, Behcet disease ... disorders #diagnosis #neurology
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
Transverse Myelitis - Clinical ... • Bilateral signs ... and/or symptoms ... or less swollen ... diagnosis #management #neurology
Evaluation of Recurrent Falls

Core Concept:
Maintaining an upright posture requires the integrated function of multiple systems.
Disruption in
presyncope, exertional symptoms ... Cataracts - Macular ... positive Romberg sign ... Differential #Evaluation #Geriatrics ... #Neurology