16 results
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
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
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
Drug-Induced Edema
Drug-induced edema is caused by many drugs & can coincide with or worsen pre-existing peripheral
release from mast cells ... Medication #Causes #Differential ... #Pharmacology # ... Pathophysiology
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
diffusion of K+ out of cells ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology