16 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
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
Clonus, Babinski’s sign ... • Lhermitte’s sign ... pupillary defect SIGNS ... Signs and symptoms ... #neurology #treatment
Trendelenburg Gait: Pathogenesis and clinical findings

Skeletal Pathology of the Hip
 • Arthritis
 • Congenital hip dysplasia
Pathogenesis and clinical ... Chondrodysplasia Neurologic ... • Compensatory muscular ... #signs #diagnosis ... #msk
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
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
test - Cogan sign ... - Peek sign ... immunologic assay - MuSK ... Gravis #diagnosis #management ... #neurology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis: HLH signs ... and symptoms can ... Lymphohistiocytosis #diagnosis #management
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Pathogenesis and clinical ... injury, often from vascular ... pathophysiology #signs ... #symptoms #msk ... #orthopedics #neurology
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
Chagas Disease - American Trypanosomiasis - Diagnosis and Management Summary
Chagas disease (American trypanosomiasis) is an infectious
Diagnosis and Management ... Romana's sign ... Indeterminate form (No signs ... /symptoms, positive ... serology, smear
Bell's Palsy - Diagnosis and Management Summary - GrepMed Handbook

Acute Idiopathic Unilateral Facial Nerve (CN7) Palsy
Presentation:
Diagnosis and Management ... - Atypical Clinical ... ophthalmoplegia), systemic signs ... Imaging (if atypical symptoms ... #Treatment #Neurology