Mutation in and a Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.

Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.

Urinary arsenic species and birth outcomes in Tacna, Peru, 2019: a prospective cohort study.

Arsenic exposure during pregnancy might affect foetal development. Arsenic metabolism may modulate the potential damage to the fetus. Tacna has the highest arsenic exposure levels in Peru.

Prenatal exposure to pesticide mixtures and the placental transcriptome: Insights from trimester-specific, sex-specific and metabolite-scaled analyses in the SAWASDEE cohort.

We investigated the effect of exposure to pesticide mixtures during pregnancy on the placental transcriptome, to link these exposures and placental functions. The Study of Asian Women and their Offspring's Development and Environmental Exposures (SAWASDEE) enrolled pregnant farmworkers from Thailand (n = 248), who were primarily exposed to organophosphate (OP) and pyrethroid pesticides. We measured maternal urinary levels of six non-specific OP metabolites expressed as three summary measures (dimethylalkylphosphates (DMAP), diethylalkylphosphates (DEAP), and dialkylphosphates (DAP) and three pyrethroid metabolites (3-phenoxybenzoic acid (3-PBA), cis- and trans-3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropane carboxylic acid (cis-DCCA, trans-DCCA) during early, middle, and late pregnancy, and adjusted for urine dilution using creatinine.

Per- and polyfluoroalkyl substances in paired serum and breastmilk samples among pregnant farmworkers in Thailand.

Per- and polyfluoroalkyl substances (PFAS) are widely detected in pregnant persons and can be transferred to the developing fetus in utero. Breastfeeding may represent an important source of PFAS exposure for infants. However, studies quantifying levels of PFAS in breastmilk samples remain scarce, particularly in low- and middle-income countries.

Associations between prenatal exposure to environmental phenols and child neurodevelopment at two years of age in a South African birth cohort.

Objective: Evidence suggests that prenatal environmental phenol exposures negatively impact child neurodevelopment, however there is little research on the effects of mixtures of multiple phenol exposures. We analyzed associations between prenatal exposure to phenol mixtures and cognitive neurodevelopment at two years of age among 545 mother-child pairs from the South African Drakenstein Child Health Study.

Material And Methods: We measured maternal urine environmental phenol concentrations once during the second trimester of pregnancy.

A Prospective Analysis of Per- and Polyfluoroalkyl Substances from Early Pregnancy to Delivery in the Atlanta African American Maternal-Child Cohort.

Background: Longitudinal trends in per- and polyfluoroalkyl substances (PFAS) serum concentrations across pregnancy have not been thoroughly examined, despite evidence linking prenatal PFAS exposures with adverse birth outcomes.

Objectives: We sought to characterize longitudinal PFAS concentrations across pregnancy and to examine the maternal-fetal transfer ratio among participants in a study of risk and protective factors for adverse birth outcomes among African Americans.

Methods: In the Atlanta African American Maternal-Child cohort (2014-2020), we quantified serum concentrations of four PFAS in 376 participants and an additional eight PFAS in a subset of 301 participants during early (8-14 weeks gestation) and late pregnancy (24-30 weeks gestation).

Electrification and specialist training associated with decreased neonatal mortality and increased admissions in Sierra Leone.

Aim: The aim of this study was to describe the evolution of a regional neonatal service in Sierra Leone and changes in mortality and service use as it transitioned from a non-specialist service to a dedicated special care baby unit (SCBU).

Methods: This was a retrospective observational study. Anonymised data were taken from the ward admissions books at Bo Government Hospital, and trends in admissions and mortality within the neonatal service were examined for each stage of the department's evolution.

Elevated Plasma Matrix Metalloproteinases Are Associated With Mycobacterium tuberculosis Bloodstream Infection and Mortality in Human Immunodeficiency Virus-Associated Tuberculosis.

Mortality from human immunodeficiency virus (HIV)-associated tuberculosis (TB) is high, particularly among hospitalized patients. In 433 people with HIV hospitalized with symptoms of TB, we investigated plasma matrix metalloproteinases (MMP) and matrix-derived biomarkers in relation to TB diagnosis, mortality, and Mycobacterium tuberculosis (Mtb) bloodstream infection (BSI). Compared to other diagnoses, MMP-8 was elevated in confirmed TB and in Mtb-BSI, positively correlating with extracellular matrix breakdown products.

Association of per- and polyfluoroalkyl substances with the antioxidant bilirubin across pregnancy.

Background: In mechanistic and preliminary human studies, prenatal exposure to per- and polyfluoroalkyl substances (PFAS) is associated with oxidative stress, a potential contributor to maternal liver disease. Bilirubin is an endogenous antioxidant abundant in the liver that may serve as a physiological modulator of oxidative stress in pregnant people. Hence, our objective was to estimate the association between repeated measures of PFAS and bilirubin during pregnancy.

Association of household air pollution exposure and anemia among pregnant women: Analysis of baseline data from 'Household Air Pollution Intervention Network (HAPIN)' trial.

Background: Anemia is common in low- and middle-income countries (LMICs), causing significant health issues and social burdens. Exposure to household air pollution from using biomass fuels for cooking and heating has been associated with anemia, but the exposure-response association has not been studied.

Objectives: We evaluated the associations between personal exposure to air pollution and both hemoglobin levels and anemia prevalence among pregnant women in a multi-country randomized controlled trial.

Placental PFAS concentrations are associated with perturbations of placental DNA methylation at loci with important roles on cardiometabolic health.

The placenta is crucial for fetal development, is affected by PFAS toxicity, and evidence is accumulating that gestational PFAS perturb the epigenetic activity of the placenta. Gestational PFAS exposure is can adversely affect offspring, yet individual and cumulative impacts of PFAS on the placental epigenome remain underexplored. Here, we conducted an epigenome-wide association study (EWAS) to examine the relationships between placental PFAS levels and DNA methylation in a cohort of mother-infant dyads in Arkansas.

Protocol for CARES-HAPIN: an ambidirectional cohort study on exposure to environmental tobacco smoke and risk of early childhood caries.

Introduction: Prenatal and postnatal exposure to environmental tobacco smoke (ETS) has been linked with early childhood caries (ECC), but the specific molecular mechanisms and pathways remain largely unknown. The Caries Risk from exposure to Environmental tobacco Smoke (CARES) within the Household Air Pollution Intervention Network (HAPIN) study aims to establish the association between ETS and ECC by employing epidemiological and novel biomarker-based approaches. Here, we outline the overall design and rationale of the project.

Per- and polyfluoroalkyl substances (PFAS) in senior care facilities and older adult residents.

Per- and polyfluoroalkyl substances (PFAS) are fluorinated organic compounds used in a variety of consumer products and industrial applications that persist in the environment, bioaccumulate in biological tissues, and can have adverse effects on human health, especially in vulnerable populations. In this study, we focused on PFAS exposures in residents of senior care facilities. To investigate relationships between indoor, personal, and internal PFAS exposures, we analyzed 19 PFAS in matched samples of dust collected from the residents' bedrooms, and wristbands and serum collected from the residents.

Relationship Between Tenofovir Diphosphate Concentrations in Dried Blood Spots and Virological Outcomes After Initiating Tenofovir-Lamivudine-Dolutegravir as First-Line or Second-Line Antiretroviral Therapy.

Background: Tenofovir diphosphate (TFV-DP) concentration in dried blood spots is a marker of long-term adherence. We investigated the relationship between TFV-DP concentrations and virological outcomes in participants initiating tenofovir-lamivudine-dolutegravir (TLD) as first-line or second-line antiretroviral therapy.

Setting: Three primary care clinics in Khayelitsha, Cape Town, South Africa.

Association of prenatal chlorpyrifos exposure with sexually dimorphic differences in anogenital distance among Thai farmworker children.

Organophosphate (OP) insecticides are some of the most abundantly used insecticides, and prenatal exposures have been linked to adverse maternal and child health outcomes. Anogenital distance (AGD) has emerged as an early marker of androgen activity, and later reproductive outcomes, that is sensitive to alteration by environmental chemicals. Here, we examined associations between prenatal exposure to chlorpyrifos, an OP insecticide, with AGD.

Systematic review of microplastics and nanoplastics in indoor and outdoor air: identifying a framework and data needs for quantifying human inhalation exposures.

Background: Humans are likely exposed to microplastics (MPs) in a variety of places including indoor and outdoor air. Research to better understand how exposure to MPs correlates to health is growing. To fully understand the possible impacts of MPs on human health, it is necessary to quantify MP exposure and identify what critical data gaps exist.