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management diagnosis pathophysiology pediatrics 21hydroxylasedeficiency 21ohd cop cryptogenic encephalopathy endocrinology hematology hemophagocytic hlh lymphohistiocytosis neurology organizing posterior praderwilli pres pulmonary
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Management of Serotonin Syndrome Identify and stop all serotoninergic medications • Avoid inadvertent Rx of serotoninergic meds
Management of Serotonin Syndrome ... serotoninergic meds ... normalize vital signs ... then 2 mg q2h if symptoms ... #Management #treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... pathophysiology #genetics ... endocrinology #peds
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 ... Diagnosis via genetic
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Infection/Sepsis/Shock ... Neurological symptoms ... epilepticus Treatment ... underlying cause • Treatment ... Seizures: Treat with AEDs
Cryptogenic Organizing Pneumonia - Illness Script PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Males=Females SIGNS ... /SYMPTOMS: • Acute ... misdiagnosed as CAP • Symptoms ... identified (autoimmune, meds ... , neoplastic) TREATMENT
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