15 results
diagnosis signs differential pediatrics peds 21hydroxylasedeficiency 21ohd acromegaly alzheimersdisease bulimianervosa caudaequina dementia diabetes diabeticketoacidosis dka excess geriatrics gestationalage gh glftap
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... delayed puberty -> Infertility ... #genetics #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm Maternal Factors: • Multiparity •
Causes of Growth ... Differential Diagnosis Algorithm ... >41 weeks) • Genetic ... Differential #Diagnosis #Algorithm ... #Causes #Obstetrics
Weight Gain / Obesity - Differential Diagnosis Algorithm Decreased Expenditure: • Sedentary Lifestyle • Smoking Cessation
Differential Diagnosis Algorithm ... • Cushing's Syndrome ... Hypothalamic Obesity Genetic ... #endocrinology ... #causes
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... spine Signs / Symptoms ... / Complications ... #MSK #pathophysiology
Causes of Male Infertility - Differential Diagnosis Algorithm Sperm Transport: • Vasectomy • Cystic fibrosis gene mutation
Causes of Male Infertility ... Differential Diagnosis Algorithm ... • Kartagener syndrome ... : • Kallmann syndrome ... High FSH/LH: • Genetic
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Electrolyte/fluid shifts caused ... changes and may cause ... severe clinical complications ... overload) Other Symptoms ... Differential #Diagnosis #Pathophysiology
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology
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