15 results
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
mutated in all cells ... / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
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
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
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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
> Keratoconus Signs ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... diagnosis #symptoms #signs ... #peds #pediatrics
Lupus (SLE): Mucocutaneous Manifestations

 • Langerhan cells and keratinocytes release cytokines -> localized inflammatory response ->
• Langerhan cells ... removal of these cells ... Manifestations #pathophysiology ... #diagnosis #signs ... #symptoms #complications
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
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
#Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms #complications