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diagnosis management pediatrics neurology syndrome causes iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd agammaglobulinemia als amyotrophic anxiety aortoenteric behavioraldisorder
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... , vomiting • Late ... #genetics #endocrinology ... #peds #pediatrics
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Diagnosis Algorithm ... pattern of spread, B symptoms ... very high mitotic rate ... Classification #pathophysiology ... #algorithm
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... roughly double this rate ... Genetic Predisposition ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework High Altitude Pulmonary Edema: • Accumulation
Edema (NCPE) - Differential ... 10,000 ft) • Symptoms ... with exertion, difficulty ... decreased respiratory rate ... edema #causes #differential
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... deficiency (thiamine) Late ... overload) Other Symptoms ... Syndrome #Nutrition #Differential ... #Diagnosis #Pathophysiology
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... Syncope • Signs/Symptoms ... Decreased pulse rate ... - Athlete - difficulty
Panic Disorder: Pathogenesis and clinical findings Social Factors • Parenting and infant attachment • Childhood illness/abuse •
Pathogenesis and clinical ... Neurotic personality Genetics ... • Incr Heart rate ... BehavioralDisorder #Pathophysiology ... #diagnosis #symptoms
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