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diagnosis management syndrome iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd aflp agammaglobulinemia algorithm biliary childhood cholangitis cirrhosis encephalopathy endocrinology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... 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
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
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
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Childhood Immunization Schedule: Why we immunize • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
URT inflammation causes ... hemorrhagic rash; symptoms ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... infiltration) Differential ... Liver #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... intralobular bile ducts causes ... PBC Signs and Symptoms ... bile ducts Differential
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
immunodeficiency may appear 3-9 ... Genetic Predisposition ... to produce all classes ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... the underlying cause ... until cause identified
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology ... Diagnosis #Management #Hematology
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