Obstetric medicine
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Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis or weakness, usually exacerbated by repeated muscle contractions or cold temperatures. Pregnancy has been reported to increase symptoms of myotonia; however, there is limited information in the literature regarding the possible effects of paramyotonia congenita on pregnancy and labour. We present a successful case of a 20-year-old primigravida with confirmed paramyotonia congenita and review the literature regarding paramyotonia congenita during pregnancy.
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Diagnosis of pulmonary embolism (PE) in pregnancy is notoriously difficult and lacking high quality evidence. Three studies (DiPEP, ARTEMIS and CT-PE-Pregnancy) evaluating a systematic approach to PE diagnosis have recently been published. DiPEP is a retrospective case-control study that found a poor utility of clinical decision rules or D-dimer testing for PE diagnosis in pregnancy. ⋯ They included few events in high risk patients, which makes difficult the assessment of both algorithm's safety in women with a high probability of PE. Considering this new evidence, D-dimer testing might be useful to avoid radiation imaging in pregnant women considered at low risk for PE. In contrast, a negative D-dimer cannot be considered sufficiently safe to rule out PE when clinicians estimate that PE is the most likely diagnosis.
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Multiple hypertension guidelines recommend out-of-office measurements for the diagnosis of hypertension in non-pregnant adults, whereas pregnancy guidelines recommend in-office blood pressure measurements. The objective of our study was to determine how Canadian Obstetric Medicine and Maternal Fetal Medicine specialists measure blood pressure in pregnancy. ⋯ There is wide practice variation in methods of measuring blood pressure among Canadian specialists managing hypertension in pregnancy.
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Pregnancy-associated cardiomyopathy can present earlier in gestation than traditionally defined peripartum cardiomyopathy. Management and optimal delivery timing for these patients are not well defined. We present the case of a 30-year-old primigravid at 26 weeks who presented with new onset ventricular tachycardia, biventricular cardiac failure, and severe mitral regurgitation. ⋯ Due to concern for life-threatening cardiac failure and pulmonary edema at the time of delivery, a percutaneous left ventricular assist device was inserted immediately prior to cesarean delivery. She remained on mechanical circulatory support for 36 h. We discuss considerations regarding use of a percutaneous left ventricular assist device as a novel therapy to support the hemodynamic changes following delivery in parturients with decompensated heart failure.
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Interpretation of laboratory investigations relies on reference intervals. Physiological changes in pregnancy may result in significant changes in normal values for many biochemical assays, and as such results may be misinterpreted as abnormal or mask a pathological state. ⋯ To outline where these physiological changes are important in interpreting laboratory investigations in pregnancy. 3. To document the most common causes of abnormalities in biochemical tests in pregnancy, as well as important pregnancy-specific causes.