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diagnosis neurology 21hydroxylasedeficiency als amyotrophic aortoenteric arteritis behcet biliary causes cholangitis cirrhosis disease endocrinology fistula gca genetics giantcell heat heatstroke
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... cold & mottled skin ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology
Behçet's Syndrome Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy Epidemiology: • Young
response to local skin ... meningitis), MCC CNS symptoms ... Behcet disease) Differential ... Syndrome #diagnosis #management ... #signs #symptoms
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Heat Stroke - Differential ... blisters on the skin ... Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... failure PBC Signs ... and Symptoms: ... Examination: • Skin ... bile ducts Differential
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... nodes: 13-15%, skin ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... fasciculations Common Symptoms ... conditions listed in differential ... neurology #diagnosis #management
Giant cell arteritis (GCA) Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
systemic sx + signs ... very remarkable w/differential ... required due to skip ... GCA #Temporal #Signs ... #Management
Aortoenteric Fistula - Diagnosis and Management Summary Epidemiology: • Uncommon but life-threatening • Most common site of bowel connection
Diagnosis and Management ... duodenum Clinical Signs ... /Symptoms: • Classic ... • Should be on differential ... Pathophysiology:
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... Myelitis #diagnosis #management ... #neurology #differential
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