Antenatal care as a means to increase participation in the continuum of maternal and child healthcare: an analysis of the poorest regions of four Mesoamérican countries.

BACKGROUND: Antenatal care (ANC) is a means to identify high-risk pregnancies and educate women so that they might experience a healthier delivery and outcome. There is a lack of evidence about whether receipt of ANC is an effective strategy for keeping women in the system so they partake in other maternal and child interventions, particularly for poor women. The present analysis examines whether ANC uptake is associated with other maternal and child health behaviors in poor mothers in Guatemala, Honduras, Nicaragua, and Mexico (Chiapas). METHODS: We conducted a cross-sectional survey of women regarding their uptake of ANC for their most recent delivery in the last two years and their uptake of selected services and healthy behaviors along a continuity of maternal and child healthcare. We conducted logistic regressions on a sample of 4844 births, controlling for demographic, household, and maternal characteristics to understand the relationship between uptake of ANC and later participation in the continuum of care. RESULTS: Uptake of four ANC visits varied by country from 17.0% uptake in Guatemala to 81.4% in Nicaragua. In all countries but Nicaragua, ANC was significantly associated with in-facility delivery (IFD) (Guatemala odds ratio [OR] = 5.28 [95% confidence interval [CI] 3.62-7.69]; Mexico OR = 5.00 [95% CI: 3.41-7.32]; Honduras OR = 2.60 [95% CI: 1.42-4.78]) and postnatal care (Guatemala OR = 4.82 [95% CI: 3.21-7.23]; Mexico OR = 4.02 [95% CI: 2.77-5.82]; Honduras OR = 2.14 [95% CI: 1.26-3.64]), but did not appear to have any positive relationship with exclusive breastfeeding habits or family planning methods, which may be more strongly determined by cultural influences. CONCLUSIONS: Our results demonstrate that uptake of the WHO-recommended four ANC visits has limited effectiveness on uptake of services in some poor populations in Mesoamérica. Our study highlights the need for continued and varied efforts in these populations to increase both the uptake and the effectiveness of ANC in encouraging positive and lasting effects on women's uptake of health care services.

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Homozygous loss-of-function mutations in optineurin (OPTN) are a rare cause of amyotrophic lateral sclerosis (ALS), whereas heterozygous loss-of-function mutations have been suggested to increase ALS disease risk. We report a patient with ALS and frontotemporal dementia (FTD) from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium carrying compound heterozygous loss-of-function variants in OPTN. Quantitative real-time mRNA expression analyses revealed a 75-80% reduction in OPTN expression in blood in the OPTN carrier as compared to controls, suggesting at least partial nonsense-mediated decay of the mutant transcripts. This case report illustrates the diverse inheritance patterns and variable clinical presentations associated with OPTN mutations, and underscores the importance of complete OPTN gene screening in patients with ALS and related disorders, especially in the context of clinical genetic testing.