10 results
diagnosis pediatrics 21hydroxylasedeficiency 21ohd agammaglobulinemia behavioraldisorder causes differential examination feedbackloop gh growthhormone heat heatstroke hematology hemeonc hemophagocytic hlh hyperparathyroidism illness
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Hyperparathyroidism - Primary vs Secondary vs Tertiary Lab Comparison: • Primary Hyperparathyroidism: ↑→PTH, ↑Calcium, ↑Vitamin D,
: Commonly no signs ... easily/weakness, Bone ... pain Psychiatric Symptoms ... Hyperparathyroidism #diagnosis #endocrinology ... Secondary #Tertiary #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
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
Incr IGF1 • Bone ... activates lipolysis Signs ... /Symptoms: • GH ... #FeedbackLoop #endocrinology ... #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... degeneration, and cone-shaped ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... /Symptoms/Findings ... cells in blood and bone ... Agammaglobulinemia #XLinked #pathophysiology
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Collapse: • Pathophysiology ... Decreased vasomotor tone ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... heat stress • Criteria
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
Newborn Infant - ... is also a late sign ... paediatrician or geneticist ... Muscle tone is assessed ... #Examination #Peds
Oppositional Defiant Disorder (ODD): Pathogenesis and clinical findings - Must have >4 symptoms for >6 months,
- Must have >4 symptoms ... with at least one ... BehavioralDisorder #Pathophysiology ... #signs #psychiatry ... #criteria
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Presentation • Common Signs ... and Symptoms: ... Pathophysiology ... Diagnostic Criteria
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