13 results
peds management symptoms dementia differential geriatrics hematology hemophagocytic hlh lymphohistiocytosis psychiatry treatment 21hydroxylasedeficiency 21ohd alzheimersdisease anomalous anxiety aortic behavioraldisorder bulimianervosa
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #management #cardiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #genetics #endocrinology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... #management #cardiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... an underlying genetic ... frequently affects infants ... : HLH signs and ... Diagnosis via genetic
Causes of Severe Aortic Regurgitation - Differential Diagnosis Acute: • Leaflet: Traumatic Rupture, Acute Infective Endocarditis, Acute
- Differential Diagnosis ... Chronic - Aorta: • Infxn ... Cogan's Disease • Genetic ... Ehlers-Danlos Syndrome ... #Causes #cardiology
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
disorders (MNCD): Diagnosis ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... When the diagnosis ... paediatrician or geneticist ... Examination #Peds #Pediatrics ... #Diagnosis
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
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