18 results
diagnosis peds management signs differential geriatrics endocrinology iem inbornerrors neonatology neurology nicu refeeding table treatment 21hydroxylasedeficiency 21ohd acromegaly aids algorithm
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... of information: Pediatrics ... , UpToDate #Pediatrics ... #Genetics #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
Aphaso-apraxo-agnosia syndrome ... atrophy Lewy body dementia ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Fecal Incontinence - Pathogenesis and Complications Continence mechanisms are impaired • Local neuronal damage • External and
irritable bowel syndrome ... (e.g. stroke, dementia ... #Incontinence #geriatrics ... #pathophysiology
Refeeding Syndrome: Pathogenesis and clinical findings Patients at Risk of Refeeding Syndrome: - Little or no nutritional
Refeeding Syndrome ... • Incr Glucose Metabolism ... - Metabolic ... #diagnosis #pathophysiology ... #symptoms #signs
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
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