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diagnosis ophthalmology peds dementia differential geriatrics physicalexam symptoms 21hydroxylasedeficiency 21ohd abnormal agammaglobulinemia agerelated algorithm alzheimersdisease atlas beaus brudzinskis centralretinalartery classification
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
A schema of the ... pathophysiology ... complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Brudzinski’s Sign ... While the pathophysiology ... despite severe disease ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics
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 Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
workup 1) Clinical ... (parkinsonian signs ... hyperorality, - 25% genetic ... Unique or multiple ischemic ... Workup #Diagnosis #Geriatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... rubbing • Atopic diseases ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Central Retinal Artery Occlusion: Pathogenesis and clinical findings • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
Pathogenesis and clinical ... • Inflammatory Disease ... • Hematologic Disease ... Occlusion #CRAO #pathophysiology ... ophthalmology #diagnosis #signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... epidemiology of this disease ... history of the disease ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology
Age Related Macular Degeneration: Pathogenesis and clinical findings Photoreceptor atrophy -> Extracellular debris (drusen) from RPE atrophy/metabolism
Pathogenesis and clinical ... choroidal bed -> Ischemia ... RPE -> Loss of photo ... Asymptomatic (early disease ... MacularDegeneration #pathophysiology
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