8 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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Lupus (SLE): Mucocutaneous Manifestations

 • Langerhan cells and keratinocytes release cytokines -> localized inflammatory response ->
• Langerhan cells ... decr release and activity ... Manifestations #pathophysiology ... #diagnosis #signs ... #symptoms #complications
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... Excessive glutamate activity ... of UMN and LMN signs ... and with limb features ... by decreasing activity
Tuberculosis Overview

10 million new M. tuberculosis infections/year
Facultative intracellular rod-shaped bacteria
Multidrug-resistant tuberculosis (MDR-TB) accounts for 4.6% of
tuberculosis (LTBI) Pathophysiology ... macrophages and T cells ... Langerhans giant cells ... characteristic features ... • GU system Complications
Tuberculosis Overview

10 million new M. tuberculosis infections/year
Facultative intracellular rod-shaped bacteria
Multidrug-resistant tuberculosis (MDR-TB) accounts for 4.6% of
tuberculosis (LTBI) Pathophysiology ... macrophages and T cells ... Langerhans giant cells ... characteristic features ... • GU system Complications
Benzodiazepine (BZD) withdrawal: clinical findings and complications

 • Activation of ACC and OFC -> Feelings of
clinical findings and complications ... Incr Sympathetic Activity ... BZD #withdrawal #pharmacology ... #pathophysiology ... #diagnosis #signs
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... increased B-cell activity ... tissue: Epithelioid cells ... failure Clinical Features ... Diagnosis #Management #Signs