14 results
diagnosis management syndrome hematology genetics hepatopulmonary pediatrics 21hydroxylasedeficiency 21ohd aflp alkaline alp anemia cancer cirrhosis comparison cryofibrinogenemia disease effusion encephalopathy
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
clinical findings ... Syndrome Signs/Symptoms ... sleep apnea, cor pulmonale ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
TRALI vs TACO - Transfusion Reactions TRALI: • Epidemiology: 0.1% of transfused patientsl • Risk factors: Critical
Risk factors: Critical ... blood donor • Pathophysiology ... without other cause ... ARDS to explain symptoms ... CXR with pulmonary
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
extrapulmonary cases ... Clinical Signs ... of active pulmonary ... decreased reflexes Pathophysiology ... for concomitant pulmonary
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... patients have no symptoms ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... = nonspecific (nausea ... age • Monitor and ... Liver #Pregnancy #hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Clinical Findings ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Low Alkaline Phosphatase - Hypophosphatasia Is Low Alkaline Phosphatase Of Clinical Importance? ALP enzyme- Discovered in 1923 Low
Phosphatase Of Clinical ... collection with EDTA Pathophysiology ... mineralization Symptoms ... Phosphatase: • Other causes ... Hyophosphatasia #hepatology
Hepatopulmonary Syndrome - Diagnosis and Management Summary A defect in arterial oxygenation due to a gas exchange
lung disease Caused ... shunt (Type 2) Clinical ... cirrhosis • Intra-pulmonary ... resolution of symptoms ... management #treatment #hepatology
Cryofibrinogenemia Summary Cryofibrinogenemia Epidemiology: • 40-70 years with a modest female predominance Cryofibrinogenemia: • The precipitation of a
Cryofibrinogenemia Symptoms ... Cryofibrinogenemia Clinical ... thrombophlebitis, pulmonary ... Diagnosis: • + Clinical ... cryoglobulins • Negative causes
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... the underlying cause ... Seizures: Treat with AEDs ... until cause identified
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