18 results
diagnosis management hematology pediatrics endocrinology hemophagocytic hlh lymphohistiocytosis vasculitis 21hydroxylasedeficiency 21ohd acromegaly agammaglobulinemia apml arteritis biliary cardiology cholangitis cirrhosis comparison
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Loss of parental copy ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds ... #pediatrics #treatment
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... /Symptoms: - Fever ... - High serum CRP ... Temporal #Arteritis #Pathophysiology
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... Dehydration • Symptoms ... WBC >100k, + lab signs ... : • Pathophysiology ... diagnosis #management #hematology
Cryptogenic Organizing Pneumonia - Illness Script PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... /SYMPTOMS: • Acute ... , neoplastic) TREATMENT ... TylerLarsenMD #COP
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology
TRALI vs TACO - Transfusion Reactions TRALI: • Epidemiology: 0.1% of transfused patientsl • Risk factors: Critical
blood donor • Pathophysiology ... ARDS to explain symptoms ... : 33% • Treatment ... transfusion • Pathophysiology ... elevated BNP, high CVP
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... may appear 3-9 ... Genetic Predisposition ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... an underlying genetic ... Diagnosis: HLH signs ... and symptoms can ... #hematology
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
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