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diagnosis symptoms orthopedics peds syndrome acute endocrinology fractures lupus management ophthalmology otitismedia sle vasculitis 21hydroxylasedeficiency 21ohd achilles agammaglobulinemia alzheimersdisease arteritis
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
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations • Immune Complex Deposition - Arthralgia, Arthritis
Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Anemia - Giant cells ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Femoral Head Fracture: Pathogenesis and clinical findings • Posterior hip dislocation -> Impaction force from femoral
onto lateral hip Signs ... /Symptoms/Complications ... FemoralHead #Fractures #msk ... #diagnosis #pathophysiology ... #signs #symptoms
Achilles Tendon Rupture - Pathogenesis and clinical findings • The Achilles tendon is 15cm long in
pre-determined etiology Signs ... /Symptoms/Complications ... TendonRupture #diagnosis #signs ... #symptoms #pathophysiology ... #msk #orthopedics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
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
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
mutated in all cells ... Retinoblastoma Signs ... / Symptoms / Complications ... Retinoblastoma #pathophysiology ... ophthalmology #diagnosis #signs
Acute Otitis Media: Complications Infection and inflammation of the middle ear - Prolonged obstruction of e. tube
Otitis Media: Complications ... to mastoid air cells ... becomes more severe Signs ... #pathophysiology ... #symptoms #signs
Acute Rheumatic Fever: Pathogenesis and Clinical Findings Delayed autoimmune reaction -> Molecular mimicry -> GAS antigen cross-reacts with host ->
B and CD-4+ T cells ... RheumaticFever #pathophysiology ... #diagnosis #signs ... #symptoms #complications
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