Search Results (3,560)

Background/Objectives: We aimed to identify eating habits associated with hepatic fat fraction (HFF) and assess effect modification by an established genetic variant for fatty liver disease, PNPLA3 rs738409, among 381 general-risk adolescents. Methods: Dietary intake was assessed using the Block Kids Food Frequency Questionnaire and HFF was measured via magnetic resonance imaging (MRI) at age ~16 years. We first characterized naturally occurring dietary patterns using principal component analysis followed by reduced-rank regression with HFF as the response variable to identify a dietary pattern that is both relevant to the population and associated with HFF. Next, we investigated associations of the dietary pattern with HFF using linear regression models that accounted for maternal gestational diabetes, education, and prenatal smoking and child sex, age, Tanner stage, and BMI. Finally, we tested for a dietary pattern and PNPLA3 rs738409 interaction and stratified by genotype if P-interaction < 0.05. Results: The participants were 16.7 ± 1.2 years (range: 12.6–19.6 years). Half were female (50.4%) and 52.0% identified as non-Hispanic White. The dietary pattern of interest was composed of vegetables, fruit, nuts and seeds, oatmeal, sports bars, crackers and sandwiches, and beef, and was inversely associated with HFF (−0.48 [95% CI: −0.81, −0.16]). Stratified analyses revealed the strongest inverse association observed between the diet pattern score and HFF in the high-risk-variant (GG) group (−2.19 [−4.35, −0.03]), followed by the intermediate-risk (CG) group (−0.43 [−0.77, −0.10]), but not the low-risk (CC) group (−0.32 [−0.77, 0.13]). Conclusions: A diet high in vegetables, fruit, nuts and seeds, oatmeal, sports bars, crackers and sandwiches, and beef—potentially capturing an active, on-the-go lifestyle—is associated with lower HFF during adolescence, especially among individuals at genetic risk. Full article

Background/Objectives: Edible bird’s nest (EBN) benefits skin, but its transgenerational effects are unknown. This study investigated whether maternal EBN or its key component, sialic acid (SA), could program offspring skin pigmentation and antioxidant capacity. Methods: Pregnant Sprague-Dawley rats were supplemented with EBN or equi-sialic acid SA. Offspring skin brightness (L*, ITA°), melanin content, and key molecular targets (e.g., MITF, TYR, TRP1/2, PMEL, RAB27A, p-CREB, p-ERK, CAT, GCS, MDA) were assessed at postnatal days 0–21. Results: Maternal EBN induced a dose-dependent skin-brightening effect in offspring. High-dose EBN increased skin L* by 10.46% and ITA° by 14.28%, while reducing total melanin by 26.77%. This was mediated by downregulation of the MITF-TYR/TRP axis and its upstream CREB/ERK signaling, suppression of melanosome transport proteins (PMEL, RAB27A), and enhancement of antioxidant defenses (increased CAT/GCS, decreased MDA). SA alone showed similar but weaker effects. Conclusions: This study demonstrates that maternal EBN intake programs offspring skin towards a lighter phenotype and enhanced antioxidant status through multi-faceted regulation of melanogenesis. The superior efficacy of whole EBN over pure SA highlights the value of the intact food matrix, suggesting EBN as a promising functional food for maternal nutrition. Full article

Benzydamine is a nonsteroidal anti-inflammatory drug widely used in topical formulations but occasionally misused orally at high doses for psychoactive effects. Data regarding the safety of benzydamine at supratherapeutic doses are limited and mainly focus on central nervous system effects. Even less information is available concerning its safety during pregnancy, despite the increased risk of unplanned pregnancies among users of psychoactive substances. In this preliminary study, we aimed to evaluate the maternal and fetotoxic potential of benzydamine to support future targeted reproductive toxicity investigations. Pregnant Wistar rats received benzydamine throughout gestation, followed by cesarean section and evaluation of fetal viability, fetal body weight at term, and macroscopic abnormalities. Maternal biochemical parameters related to hepatic, renal, and metabolic function, and oxidative stress markers, were also assessed. Results were compared with those of a control group. No significant differences in routine biochemical parameters were observed between groups; however, benzydamine exposure was associated with reduced fetal body weight and increased maternal plasma malondialdehyde levels. These findings suggest that benzydamine may impair fetal growth through indirect maternal toxicity and oxidative stress rather than direct teratogenic effects. Full article

Background: Joubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and disrupted respiratory-postural integration. Longitudinal reports describing structured neurorehabilitation with standardized functional outcomes remain limited. Case presentation: We report a female child with prenatally suspected vermian hypoplasia and postnatally MRI-confirmed Joubert syndrome. Subsequent molecular testing performed at the age of 3 years and 11 months identified heterozygous variants in the B9D2 gene associated with Joubert syndrome. Early development was marked by axial hypotonia, global motor delay, impaired trunk stabilization, sleep-disordered breathing, and early hip migration. At 2.5 years of age, following motor plateau under conventional therapy, a structured 12-month rehabilitation programme was introduced, combining Vojta-based reflex locomotion, respiratory therapy targeting thoraco-diaphragmatic synchronization, daily home-based practice, and supported standing. Results: After 12 months, gross motor function improved substantially, with GMFM-88 increasing from 12% to 52% (+40 percentage points). PEDI scaled scores improved across all domains, with mobility increasing from 8 to 40, self-care from 15 to 45, and social function from 25 to 50. Ataxia severity decreased from 22 to 15 on the modified Brief Ataxia Rating Scale, consistent with improved trunk stability and coordination. Postural and respiratory organization improved, reflected by a reduction in the subcostal angle from 137° to 90°, an increase in sacral slope from 5° to 10°, and increased expiratory pressure from 10 to 25 mmHg. Caregiver-reported assessment combined with structured clinical observation indicated improved functional visual performance, including enhanced visual attention, visuomotor coordination, and environmental visual interaction. Conclusions: Structured neurorehabilitation was associated with substantial functional improvement across motor, postural, and respiratory domains. These findings support the clinical relevance of mechanism-oriented neurorehabilitation and standardized longitudinal outcome assessment in Joubert syndrome. Full article

Therapeutic termination of pregnancy (TToP) represents an intervention that is performed for medical reasons, such as risks to maternal health or severe fetal anomalies. Advances in prenatal screening and diagnostic tools—including serum markers, ultrasound, cell-free fetal DNA, chorionic villus sampling and amniocentesis—have significantly improved early detection and clinical decision-making. This narrative review synthesizes current knowledge on the genetic, environmental and psychosocial determinants that influence the decision of the patients to pursue TToP. The literature search was performed primarily using PubMed database, while Scopus and Google Scholar were used to identify additional relevant studies. Some of the selected studies, as well as certain sections of this review, address both therapeutic and voluntary termination of pregnancy, whereas others focus exclusively on TToP. Moreover, this review describes the types of abortion (medical or surgical/aspiration) along with their management strategies to prevent or address potential complications. It is well known that demographic, cultural and socio-economic factors continue to influence the access to TToP, as well as the perceptions of it. Psychiatric comorbidities (such as anxiety, affective and psychotic disorders) are observed with a higher prevalence among women undergoing TToP and may influence both the decision and psychological outcomes post-procedure. While most women report emotional relief after TToP, some of them experience depression, post-traumatic stress disorder or substance misuse. Legal and ethical considerations further complicate access to safe abortion, leading to situations where patients may resort to unsafe procedures, which result in higher rates of morbidity and mortality. Data from the EUROCAT network show rising trends in congenital anomalies like trisomy 13, trisomy 18 and caudal regression syndrome (conditions commonly associated with TToP). Therefore, it is mandatory to form a multidisciplinary team in these cases, integrating medical, psychological and ethical dimensions. Ensuring safe, evidence-based and compassionate access to TToP remains a critical component of reproductive healthcare. Full article

Maternal Smoking During Pregnancy (MSDP) remains a major source of fetal toxicant exposure. We applied adductomics to profile reactive adducts at the human serum albumin cysteine-34 (HSA-Cys³⁴) locus, which integrates longer-term exposures. HSA-Cys³⁴ adducts formed by acrylonitrile and ethylene oxide, two tobacco-related toxicants previously linked to smoking in adults, were quantified and compared with cotinine and MSDP status. Their relationships with other reactive adducts were also examined. Neonatal dried blood spots (DBS) from 110 children were analyzed. Cotinine and 55 Cys³⁴ adducts were measured by Liquid Chromatography–Tandem Mass Spectrometry (LC-MS/MS). Associations were evaluated using linear regression, chi-square tests, and principal component analysis. Eighteen adducts differed significantly by MSDP status after Bonferroni correction (p ≤ 9.1 × 10⁻⁴). S-acrylonitrile was markedly elevated in exposed newborns, including those whose mothers reported smoking cessation after early pregnancy (p < 0.001). S-acrylonitrile correlated with 31 adducts related to oxidative stress and thiol metabolism, whereas cotinine correlated with eight. S-ethylene oxide, though detectable in DBS, showed no consistent association with MSDP. Adductomics analysis of newborn DBS sensitively captures molecular signatures of prenatal tobacco exposure and related oxidative stress. Acrylonitrile adducts appear to better reflect cumulative MSDP exposure than cotinine, highlighting the utility of adductomics for improved exposure assessment and mechanistic insight. Full article

Respiratory Syncytial Virus infection is a significant cause of morbidity and mortality in infants. Maternal vaccination with the bivalent vaccine Abrysvo^® in the third trimester (24–36 weeks) is an effective strategy to prevent severe respiratory illnesses in newborns. However, the introduction of this new technology faces structural obstacles that amplify inequalities. This rapid literature review sought to map and synthesize evidence on inequalities and inequities in adherence and accessibility to maternal vaccination among Black pregnant women. A rapid literature review was conducted using a mixed-methods approach (narrative synthesis and thematic analysis), following guidelines adapted from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the Cochrane Handbook. The research question was structured using the acronym Population/Problem, Exposure, Comparison, and Outcome, focusing on Black pregnant women, maternal vaccination, comparison with other groups, and barriers/determinants. The search was conducted in databases such as PubMed (via Medical Literature Analysis and Retrieval System Online), Scopus and Literatura Latino-Americana e do Caribe em Ciências da Saúde, covering studies published between 2022 and 2025 that presented disaggregated analysis by race. The analysis and interpretation of the findings were guided by Critical Race Theory. The analysis of the twelve included studies (mainly from the United States, the United Kingdom, and Brazil) revealed systematic and robust disparities. Black pregnant women had lower vaccination coverage and were less likely to receive timely recommendations compared to White pregnant women. The barriers identified include: institutional distrust (resulting from structural racism), poor access to prenatal care, inadequate communication, and socioeconomic factors. Inequities are structural and multifactorial phenomena. To ensure that the benefits of the vaccine are distributed equitably, strategies such as anti-racist training for healthcare teams, active vaccination outreach, and continuous monitoring of data disaggregated by race are essential. Full article

Background/Objectives: Women’s health has historically lagged behind other medical specialties in transformative innovation, despite significant technological advances in adjacent fields. In this collection of papers, we examine the current state of innovation in women’s health and maternal–fetal medicine, identify barriers to transformation, and propose strategies for accelerating breakthrough developments. This paper presents an overview of multiple forces and their often-competing relationships that influence the environment in which advances in multiple areas of healthcare have had to navigate to enter mainstream practice. An understanding of these forces is essential to explain why some new technologies are readily deployed into clinical practice while others take many years to be adopted. Understanding the entire “echo-system” around any specific technology provides a much fuller understanding of how any individual advance can make its way into actual utilization. Methods: We synthesized current literature on innovation in women’s health, analyzing technological advances in artificial intelligence, precision medicine, non-invasive diagnostics, and surgical robotics. We examined patterns of innovation adoption and barriers to implementation across multiple domains. Results: Several key areas presented in this paper and the following show promise for transformative change: artificial intelligence (AI)-driven diagnostics achieving expert-level performance in prenatal screening, precision medicine approaches transforming genetic disease management, and non-invasive monitoring technologies revolutionizing maternal–fetal care. However, systemic barriers including regulatory complexity, liability concerns, and institutional inertia continue to limit widespread adoption of numerous breakthrough technologies. Conclusions: The convergence of multiple technological advances, particularly artificial intelligence and precision medicine, positions women’s health for unprecedented transformation. Success requires fostering innovation-ready environments, embracing systems-awareness approaches, and maintaining focus on human-centered care while leveraging technological capabilities with continual feedback and course corrections. Full article

The hypothalamic–pituitary–adrenal (HPA) axis coordinates metabolic, immune, and behavioral responses to a changing environment. Its molecular effectors are the nuclear receptors for glucocorticoids and mineralocorticoids (the GRs/MRs), encoded by nr3c1/nr3c2. The MR serves as the high-affinity sensor of basal hormone concentrations, whereas the GR amplifies the stress response and mediates negative feedback. Despite their shared domain architecture, the receptors have diverged functionally: isoform composition, post-translational modifications, and the complement of co-regulators together determine which genes are activated or repressed in a given tissue at a given time. The regulation of the HPA axis activity is a major determinant of embryonic development. Pregnancy adds a placental control layer that meters maternal signals: 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) in the syncytiotrophoblast inactivates cortisol, whereas 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) can regenerate it, and systemic buffering by transcortin (cortisol-binding globulin, CBG) limits the free hormone fraction. Under stress, inflammation, or hypoxia, this barrier weakens, exposing the fetus to stronger glucocorticoid pulses during windows of heightened vulnerability for brain and immune development. Such overexposure not only reshapes ongoing transcription but is also epigenetically inscribed: the methylation of alternative nr3c1 promoters, the remodeling of histones, and the shifts in ncRNA profiles recalibrate the axis sensitivity for the long term. At the phenotypic level, this manifests as variability in stress reactivity, cognitive and affective trajectories, and an immune and metabolic risk across later ontogeny. In this review, we integrate evidence on the structure and functions of the GR, the mechanisms of its post-translational and epigenetic regulation, and the role of the placenta, to provide a coherent framework for understanding the multifaceted consequences of prenatal stress and to identify potential targets for early prevention. Full article

Background: Adverse newborn outcomes in patients with severe maternal morbidity (SMM) are understudied, and this study examines their association with insurance type (Medicaid vs. commercial) in patients who experienced SMM. The aim of this study is to examine disparities in preterm birth, low birthweight, and neonatal intensive care (NICU) admission among Medicaid vs. commercially insured patients with severe maternal morbidity in Maryland. Methods: This cross-sectional study analyzed data from 588 SMM patients enrolled in Maryland’s Severe Maternal Morbidity (SMM) Surveillance Program (August 2020–December 2023). We utilized unadjusted and multivariable logistic regression models to evaluate the relationship between primary insurance type and the outcomes of interest: preterm birth (<37 weeks), low birthweight (<2500 g), and neonatal intensive care unit (NICU) admissions. Results: Of 588 patients with SMM, 45.1% had Medicaid. These patients were younger, more often non-Hispanic Black or Hispanic, had higher parity and comorbidity scores, and initiated prenatal care later compared with commercially insured patients. Medicaid patients had 2.2 to 2.6 times higher odds of adverse newborn outcomes after adjusting for other socio-demographic and medical factors. Patients’ comorbidities significantly increased the odds of adverse newborn outcomes, as did all other primary SMM causes other than obstetric hemorrhage. Conclusions: Adverse newborn outcomes were more prevalent among Medicaid than commercially insured patients who experienced SMM. Differences in maternal health status and primary SMM cause partly explain the observed differences in newborn outcomes. Our findings emphasize the need for comprehensive prenatal care and improved healthcare access for women with high-risk pregnancies. Full article

Tubulinopathies are severe, non-progressive neurodevelopmental disorders caused by mutations in tubulin genes, leading to profound intellectual disability, drug-resistant epilepsy, motor impairment, and lifelong dependence on care. While historically diagnosed postnatally, advances in prenatal neurosonography now allow for the suspicion of this pathology in utero during routine second and early third-trimester anomaly scans. This narrative review synthesizes key findings from the literature published between 2019 and 2025 regarding prenatal ultrasonographic signs of tubulinopathies. Recognition of specific red-flag patterns should prompt dedicated neurosonography and targeted genetic testing. Early pregnancy detection is crucial for parental counseling and evidence-based decisions regarding pregnancy continuation. Full article

This population-based study aimed to analyze the annual incidence and case fatality trends, and the clinical-epidemiological profile of gastroschisis in the state of Paraná, Brazil, between 2013 and 2024. Specifically, temporal trends in annual incidence and mortality rates related to gastroschisis were examined. Maternal, gestational, and neonatal characteristics were analyzed. Data from the Live Birth Information System and the Mortality Information System were analyzed using polynomial regression modeling. During the study period, 1,798,727 live births were recorded, including 491 cases of gastroschisis and 179 related deaths. The mean incidence was 2.73 per 10,000 live births. A significant 39.5% decrease over the study period was observed (p < 0.001). The case fatality rate was 36.5%. The mothers of children with gastroschisis were: young mothers (<25 years old; 77%), with low education (87.7%) and no partner (59.1%). High frequencies of cesarean deliveries (84.3%), prematurity (57.3%), low birth weight (63.7%), and low Apgar scores were also observed. The profiles of the mothers and children at birth were unfavorable when compared to the population of live births. Gastroschisis incidence in Paraná declined significantly from 2013 to 2024. While the annual incidence showed a decreasing trend, mortality fluctuated. The persistently high case fatality rate underscores the need for public policies focused on prenatal care and specialized neonatal management. Full article

Myasthenia gravis (MG) is a prevalent autoimmune disorder affecting neuromuscular junctions, typically characterized by muscle weakness due to autoantibodies targeting acetylcholine receptors (AChR) or muscle-specific kinase (MuSK). Generalized MG is a more severe form of the condition than ocular MG. Although MG can strike at any age, young adult women are typically affected, especially in their reproductive years. MG is rare during pregnancy, with the first trimester and the postpartum period being the most common times for exacerbations. The influence of MG on pregnancy outcomes remains ambiguous, with some studies finding larger prevalence of issues such as preterm birth and small-for-gestational-age babies, while others indicate results similar to the general population. Management of MG during pregnancy necessitates careful monitoring and drug adjustments. Teratogenic concerns make several immunosuppressive drugs, such mycophenolate mofetil and methotrexate, contraindicated. In contrast, medications like prednisolone and pyridostigmine are generally recognized as safe. Women with MG may have flare-ups after giving birth, and infants may have transient neonatal myasthenia gravis. Comprehensive prenatal treatment and multidisciplinary assistance are crucial for promoting maternal and fetal health during pregnancy in women with MG. This paper examines the relevance of immunological biomarkers, RNAs, and other novel biomarkers in myasthenia gravis (MG). It emphasizes the need for more investigation to determine their role in the pathogenesis of MG, evaluate biomarker profiles across subgroups, and look at changes after treatment. The study also underlines the significance of high-throughput investigations to detect new biomarkers and reveal genetic variables impacting MG pathogenesis. Full article

Air pollution has been associated with dysregulated metabolism. However, evidence linking prenatal air pollution exposure to gestational weight gain (GWG) pattern remains limited. This retrospective cohort study of 47,793 pregnant women in Guiyang (2013–2022) assessed associations between air pollutants and GWG pattern. Positive associations were observed between excessive GWG and CO (per 1 μg/m³ increase), NO₂, O₃, PM₁₀, PM_2.5, and SO₂ (per 10 μg/m³ increase) throughout the whole pregnancy period. Specifically, early-pregnancy exposure to CO (OR = 1.377, 95% CI: 1.201, 1.578) and NO₂ (OR = 1.098, 95% CI: 1.068, 1.130), along with exposure to PM₁₀ (OR = 1.058, 95% CI: 1.043, 1.073), PM_2.5 (OR = 1.095, 95% CI: 1.073, 1.118), and SO₂ (OR = 1.135, 95% CI: 1.102, 1.169) during late pregnancy significantly increased excessive GWG risk. Conversely, O₃ exposure was inversely associated with excessive GWG. For insufficient GWG, only early-pregnancy exposures to PM₁₀ (OR = 1.016, 95% CI: 1.001, 1.032), PM_2.5 (OR = 1.022, 95% CI: 1.001, 1.043), and SO₂ (OR = 1.031, 95% CI: 1.004, 1.058) showed significant positive associations. Furthermore, the restricted cubic spline (RCS) model revealed a nonlinear relationship between pollutant exposure and the risk of excessive GWG. Stratified analyses revealed that the air pollution and GWG (continuous) association was stronger among women with pre-pregnancy BMI ≥ 24 kg/m² and aged ≥ 30 years. This study confirms that, even at lower concentrations, exposure to air pollutants during pregnancy is significantly associated with an increased risk of abnormal GWG. Compared to previous studies focusing on high-concentration areas, this finding provides additional evidence for assessing the health risks of air pollution exposure during pregnancy, suggesting that the potential metabolic effects of low-level, long-term exposure should be considered when developing maternal health strategies. Full article

Background/Objectives: To compare the maternal, fetal, and neonatal outcomes of pregnancies undergoing amniocentesis with those undergoing non-invasive prenatal testing (NIPT), within a cohort of women with comparable clinical indications, aiming to evaluate differences in adverse outcomes in a risk-indicated population. Methods: In this retrospective cohort study, pregnancy outcomes of 2044 pregnant women who underwent amniocentesis and 7668 pregnant women who underwent NIPT were evaluated using single-center data. The analysis was restricted to pregnancies with normal/reportable test results and without structural or genetic anomalies. Pregnancy loss outcomes were evaluated in the full cohort, while perinatal outcomes were analyzed among cases with available delivery data (377 amniocentesis and 2063 NIPT cases). Pregnancy and perinatal outcomes, including miscarriage, intrauterine fetal demise (IUD), preterm birth (PTB), pregnancy-induced hypertensive diseases (PIHDs), gestational diabetes mellitus (GDM), intrahepatic cholestasis of pregnancy (ICP), low birth weight (LBW), small for gestational age (SGA), and low APGAR scores (<7), were evaluated. Multivariate logistic regression analysis was performed to adjust for potential confounding factors, and adjusted odds ratios (aORs) with 95% confidence intervals (CIs) were reported. Results: Amniocentesis was associated with a significantly higher risk of an adverse outcome compared to NIPT in this risk-indicated cohort. The likelihood of miscarriage was significantly higher in the amniocentesis group (aOR: 1.91, 95% CI: 1.17–3.14, p = 0.025), as was the risk of IUD (aOR: 4.10, 95% CI: 2.05–8.20, p < 0.001). PTB risk was also increased (aOR: 1.96, 95% CI: 1.53–2.51, p < 0.001). LBW was significantly more prevalent in the amniocentesis group (aOR: 7.73, 95% CI: 5.40–11.05, p < 0.001), and the likelihood of delivering a SGA neonate was also increased (aOR: 1.45, 95% CI: 1.02–2.06, p = 0.040). A 1st-minute APGAR score < 7 was also more frequent in the amniocentesis group (aOR: 1.51, 95% CI: 1.06–2.16, p = 0.022), although the association with 5th-minute APGAR scores < 7 did not reach statistical significance (aOR: 1.45, 95% CI: 0.83–2.52, p = 0.193). Overall, the risk of composite maternal and perinatal adverse outcomes (aOR: 1.77, 95% CI: 1.41–2.22, p < 0.001) as well as composite fetal and neonatal adverse outcomes (aOR: 1.97, 95% CI: 1.50–2.58, p < 0.001) was significantly higher in the amniocentesis group compared to the NIPT group. No significant association was observed for PIHD, GDM, or ICP. Conclusions: Our findings showed that, apart from fetal loss, amniocentesis may be associated with adverse perinatal outcomes such as PTB, LBW, SGA and low APGAR scores. Full article