Maternal and perinatal outcomes of a venous thromboembolism high-risk cohort using a multidisciplinary treatment approach.

OBJECTIVE: To evaluate the maternal and perinatal outcomes in a cohort of pregnant women at high risk of venous thromboembolism (VTE). METHODS: Women at high risk of VTE were evaluated in a multidisciplinary program using a complete diagnostic workup, and specific prophylactic or therapeutic treatment. RESULTS: Women were considered at high risk of VTE in 57% (85/148) because of prior (75) or current (10) thromboembolism, and in 27% (40/148) of the cases due to adverse obstetric history. Thrombophilia was diagnosed in 57% of the cases (85/148), either in patients with previous thromboembolism (48%, 41/85) or without a history of thrombosis (70%, 44/63). The most common thrombophilia was antiphospholipid syndrome in 34% (29/85) of the cases. Under respective prophylactic or therapeutic treatment, there were no VTE during pregnancy (0%, 0/148), whereas four events occurred during the puerperium (3%, 4/148). An adverse obstetric outcome was present in 5% (7/148) of all pregnancies, with four early spontaneous abortions (3%, 4/148) and three late miscarriages (2%, 3/148). CONCLUSION: Pregnant women at high risk of VTE can be effectively managed using a risk-adapted treatment. Our results support prospective enrollment and a multidisciplinary assessment of VTE in high-risk pregnant women.

The Myometrium in Pregnant Women with Obesity.

Obesity is a worldwide public health problem, affecting at least one-third of pregnant women. One of the main problems of obesity during pregnancy is the resulting high rate of cesarean section. The leading cause of this higher frequency of cesarean sections in obese women, compared with that in nonobese women, is an altered myometrial function that leads to lower frequency and potency of contractions. In this article, the disruptions of myometrial myocytes were reviewed in obese women during pregnancy that may explain the dysfunctional labor. The myometrium of obese women exhibited lower expression of connexin43, a lower function of the oxytocin receptor, and higher activity of the potassium channels. Adipokines, such as leptin, visfatin, and apelin, whose concentrations are higher in obese women, decreased myometrial contractility, perhaps by inhibiting the myometrial RhoA/ROCK pathway. The characteristically higher cholesterol levels of obese women alter myometrial myocyte cell membranes, especially the caveolae, inhibiting oxytocin receptor function, and increasing the K+ channel activity. All these changes in the myometrial cells or their environment decrease myometrial contractility, at least partially explaining the higher rate of cesarean of sections in obese women.

Genetic testing for inherited ocular conditions in a developing country.

Background: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.Materials and methods: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination. Those diagnosed with congenital cataract, retinoblastoma, anterior segment dysgenesis, autoimmune retinal disease, posterior microphthalmia, or cobalamin C deficiency were excluded, along with patients who opted against genetic testing. Included probands were classified into a diagnostic clinical category and offered genetic testing. Blood samples were sent to foreign accredited diagnostic laboratories, followed by clinical interpretation of the results.Results: Of the 163 patients referred, 104 were enrolled in the study. Median age at disease onset was 2 years (range, 0 to 43 years). A molecular diagnosis was established at a median age of 10 years (range, 0.4 to 50 years). Disease-causing genotypes were identified in 82 of the probands, indicating a mutation detection rate of 78.8%. Mutations were identified in 38 genes, ABCA4 being the most commonly affected (23% of mutations), followed by CRB1 (13% of mutations). Whole-exome sequencing was performed in 6 patients, resulting in a definite diagnosis in 3 (50%).Conclusions: Molecular testing for inherited ocular conditions is feasible in developing countries by sending samples to certified foreign laboratories, with a mutation detection rate comparable to published values in developed countries. Further studies to identify more disease-causing genes may improve the overall sensitivity.