20 results
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 ... endocrinology #peds #pediatrics
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
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
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
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 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
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
lumbar spine Signs ... / Symptoms / Complications ... CaudaEquina #Syndrome #MSK ... #pathophysiology ... diagnosis #symptoms #signs