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geriatrics diagnosis peds 21hydroxylasedeficiency 21ohd alzheimersdisease classification differential endocrinology fecal incontinence keratoconus mncd ophthalmology praderwilli stool subtypes symptoms workup
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... / Symptoms / Complications ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
Fecal Incontinence - Pathogenesis and Complications Continence mechanisms are impaired • Local neuronal damage • External and
Pathogenesis and Complications ... irritable bowel syndrome ... (e.g. stroke, dementia ... #Incontinence #geriatrics ... #pathophysiology
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology
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
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