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Molecular Genetics & Genomic Medicine Jun 2024Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It...
BACKGROUND
Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause of heart failure and cardiac death at a young age. Cases with neonatal onset DCM were correlated with severe clinical presentation and poor prognosis. A monogenic molecular etiology accounts for nearly half of cases.
FAMILY DESCRIPTION
Here, we report a family with three deceased offspring at the age of 1 year old. The autopsy of the first deceased infant revealed a DCM. The second infant presented a DCM phenotype with a severely reduced Left Ventricular Ejection Fraction (LVEF) of 10%. Similarly, the third infant showed a severe DCM phenotype with LVEF of 30% as well, in addition to eccentric mitral insufficiency.
RESULTS
Exome sequencing was performed for the trio (the second deceased infant and her parents). Data analysis following the autosomal dominant and recessive patterns of inheritance was carried out along with a mitochondrial pathways-based analysis. We identified a homozygous frameshift variant in the TNNI3 gene (c.204delG; p.(Arg69AlafsTer8)). This variant has been recently reported in the ClinVar database in association with cardiac phenotypes as pathogenic or likely pathogenic and classified as pathogenic according to ACMG.
CONCLUSION
Genetic counseling was provided for the family and a prenatal diagnosis of choronic villus was proposed in the absence of pre-implantation genetic diagnosis possibilities. Our study expands the case series of early-onset DCM patients with a protein-truncating variant in the TNNI3 gene by reporting three affected infant siblings.
Topics: Humans; Cardiomyopathy, Dilated; Frameshift Mutation; Female; Homozygote; Pedigree; Consanguinity; Male; Infant; Phenotype; Troponin I
PubMed: 38924380
DOI: 10.1002/mgg3.2486 -
PloS One 2024Poor maternal nutrition during pregnancy creates a stressful environment that can lead to long-term effects on tissue development. Understanding the food consumption...
Food consumption score and predictors among pregnant women attending antenatal care services in health centers of Addis Ababa, Ethiopia: Using ordinal logistic regression model.
BACKGROUND
Poor maternal nutrition during pregnancy creates a stressful environment that can lead to long-term effects on tissue development. Understanding the food consumption score can be used to prevent problems associated with poor dietary intake of pregnant mothers. In Ethiopia, the food consumption score ranges from 54% to 81.5%, which is far below the World Food Program (WFP) recommendation. Thus, this study aimed to assess food consumption score and associated factors among pregnant women attending antenatal care services in health centers of Addis Ababa, Ethiopia.
METHODS
This study has used institution based cross sectional study. Overall, 999 pregnant women were selected for this study. A multistage sampling technique followed by systematic random sampling was used to include pregnant women coming for antenatal care services in the selected health centers of Addis Ababa from June 07 to July 08, 2022. We used interviewer administered questionnaire using the Kobo toolbox. Food consumption score (FCS) was assessed after collecting data on frequency of eight food groups consumed over the previous seven days, which were weighted according to their relative nutritional value. STATA 14 was used to analyse the data. Ordinal logistic regression was used to identify independent predictors of food consumption score. Those variables having p value < 0.25 in the bivariable ordinal logistic regression were considered for the final model. Crude and Adjusted Odds Ratio were used to assess the strength of the association. In the final model, p value < 0.05 at 95% confidence interval was used to declare statistical significance.
RESULT
From the total of 949 pregnant women a little over half (51.20% (95%CI: 48.00%-54.40%) had acceptable food consumption score, while just over two fifth (42.60% (95% CI: 39.40%-45.70%)) and a small proportion (6.2% (95%CI: 4.84%-7.94%)) of the study participants had borderline and poor food consumption score, respectively. No meal skip (AOR = 1.37, 95% CI:1.03-1.81), able to read and write (AOR = 3.99, 95% CI: 1.33-11.96), poorest wealth status (AOR = 0.52, 95% CI: 0.34-0.78), positive attitude towards consumption of a diversified diet (AOR = 1.52,95% CI: 1.17-1.98) were independent predictors of acceptable food consumption score.
CONCLUSION
In this study, considerably low level of acceptable food consumption score among the study participants was observed. Besides, not skipping meal, having better educational status, wealth status and attitude towards consumption of a diversified diet were associated with acceptable food consumption score. Therefore, nutritional education considering important dietary modifications should be intensified targeting vulnerable groups.
Topics: Humans; Female; Pregnancy; Ethiopia; Prenatal Care; Adult; Cross-Sectional Studies; Young Adult; Logistic Models; Adolescent; Pregnant Women; Eating; Feeding Behavior; Diet; Surveys and Questionnaires; Nutritional Status
PubMed: 38924049
DOI: 10.1371/journal.pone.0306169 -
Circulation Jun 2024This trial aimed to assess the efficacy, acceptability and safety of a first-trimester screen-and-prevent strategy for preterm preeclampsia (PE) in Asia.
BACKGROUND
This trial aimed to assess the efficacy, acceptability and safety of a first-trimester screen-and-prevent strategy for preterm preeclampsia (PE) in Asia.
METHODS
Between 1 August 2019 and 28 February 2022, this multicenter stepped wedge cluster randomized trial included maternity/diagnostic units from ten regions in Asia. The trial started with a period where all recruiting centers provided routine antenatal care without study-related intervention. At regular six-week intervals, one cluster was randomized to transit from non-intervention phase to intervention phase. In the intervention phase, women underwent first-trimester screening for preterm PE using a Bayes theorem-based triple-test. High-risk women, with adjusted risk for preterm PE ≥ 1 in 100, received low-dose aspirin from <16 weeks until 36 weeks.
RESULTS
Overall, 88.04% (42,897/48,725) of women agreed to undergo first-trimester screening for preterm PE. Among those identified as high-risk in the intervention phase, 82.39% (2,919/3,543) received aspirin prophylaxis. There was no significant difference in the incidence of preterm PE between the intervention and non-intervention phases (adjusted odds ratio [aOR] 1.59; 95% confidence interval [CI] 0.91 to 2.77). However, among high-risk women in the intervention phase, aspirin prophylaxis was significantly associated with a 41% reduction in the incidence of preterm PE (aOR 0.59; 95%CI 0.37 to 0.92). Additionally, it correlated with 54%, 55% and 64% reduction in the incidence of PE with delivery at <34 weeks (aOR 0.46; 95%CI 0.23 to 0.93), spontaneous preterm birth <34 weeks (aOR 0.45; 95%CI 0.22 to 0.92) and perinatal death (aOR 0.34; 95%CI 0.12 to 0.91), respectively. There was no significant between-group difference in the incidence of aspirin-related severe adverse events.
CONCLUSIONS
The implementation of the screen-and-prevent strategy for preterm PE is not associated with a significant reduction in the incidence of preterm PE. However, low-dose aspirin effectively reduces the incidence of preterm PE by 41% among high-risk women. The screen-and-prevent strategy for preterm PE is highly accepted by a diverse group of women from various ethnic backgrounds beyond the original population where the strategy was developed. These findings underpin the importance of the widespread implementation of the screen-and-prevent strategy for preterm PE on a global scale.
PubMed: 38923439
DOI: 10.1161/CIRCULATIONAHA.124.069907 -
Journal of Midwifery & Women's Health Jun 2024Outpatient perinatal care providers (one certified nurse-midwife, one nurse practitioner, and one physician assistant) at a high-volume, suburban health system in...
Outpatient perinatal care providers (one certified nurse-midwife, one nurse practitioner, and one physician assistant) at a high-volume, suburban health system in southeastern Pennsylvania developed and implemented a care model to identify and care for patients at risk for perinatal and postpartum mental health conditions. The program, Women Adjusting to Various Emotional States (WAVES), was created to bring the most up-to-date, evidence-based treatment recommendations to patients while addressing the increased demand placed on the health care system by pregnant and postpartum patients in need of psychiatric services. WAVES is a specialized program offered for anyone who is pregnant or up to one year postpartum who is struggling with mental health symptoms or concerns. Perinatal mood and anxiety disorders have become one of the most prevalent pregnancy ailments, yet mental health is not always addressed during routine prenatal care visits. Common obstacles to patients obtaining mental health care during pregnancy include lack of access, clinician gaps in knowledge, and stigma surrounding diagnoses. WAVES offers a method to empower perinatal providers with the education and tools to address this need. The model outlines how to appropriately assess, diagnose, manage, or refer patients for mental health services. Patient feedback has been overwhelmingly positive, and this novel care model shows great promise for the future of perinatal care. The development of integrated programs like WAVES may be a valuable resource to help combat the perinatal mental health epidemic.
PubMed: 38923106
DOI: 10.1111/jmwh.13658 -
The Australian & New Zealand Journal of... Jun 2024The Society of Australia and New Zealand (SOMANZ) published its first sepsis in pregnancy and the postpartum period guideline in 2017 (Aust N Z J Obstet Gynaecol, 57,...
BACKGROUND
The Society of Australia and New Zealand (SOMANZ) published its first sepsis in pregnancy and the postpartum period guideline in 2017 (Aust N Z J Obstet Gynaecol, 57, 2017, 540). In the intervening 6 years, maternal mortality from sepsis has remained static.
AIMS
To update clinical practice with a review of the subsequent literature. In particular, to review the definition and screening tools for the diagnosis of sepsis.
MATERIALS AND METHODS
A multi-disciplinary group of clinicians with experience in all aspects of the care of pregnant women analysed the clinical evidence according to the GRADE (Grading of Recommendations Assessment, Development and Evaluation) system following searches of Cochrane, Medline and EMBASE. Where there were conflicting views, the authors reviewed the topic and came to a consensus. All authors reviewed the final position statement.
RESULTS
This position statement has abandoned the use of the quick Sequential Organ Failure Assessment score (qSOFA) score to diagnose sepsis due to its poor performance in clinical practice. Whilst New Zealand has a national maternity observation chart, in Australia maternity early warning system charts and vital sign cut-offs differ between states. Rapid recognition, early antimicrobials and involvement of senior staff remain essential factors to improving outcomes.
CONCLUSION
Ongoing research is required to discover and validate tools to recognize and diagnose sepsis in pregnancy. Australia should follow New Zealand and have a single national maternity early warning system observation chart.
PubMed: 38922822
DOI: 10.1111/ajo.13848 -
Toxics May 2024Prenatal exposure to dietary toxicants is linked to neurocognitive issues, but its effect on early emotional and behavioral development in children is less clear. To...
Prenatal exposure to dietary toxicants is linked to neurocognitive issues, but its effect on early emotional and behavioral development in children is less clear. To explore the relationship between prenatal intake of As, iAs, Cd, MeHg, Pb, PCDD/Fs, DL-PCBs, and NDL-PCBs and emotional and behavioral issues in four-year-old children. This study included 192 mother-child pairs from the ECLIPSES study, assessing prenatal dietary toxicant exposure through a food-frequency questionnaire and Catalan Food Safety Agency data. Children's emotional and behavioral scores were evaluated using the Child Behavior Checklist for ages 1.5-5 years. Multivariable regression and logistic models were used, focusing on iAs after finding significant preliminary associations. Increased prenatal dietary intake of iAs was associated with internalizing, externalizing, and attention-deficit/hyperactivity problems. Higher iAs levels (>4.16 μg/day) significantly increased the risk of total problems (OR = 2.94) and specific issues like anxious/depressed (OR = 4.88), anxiety (OR = 3.27), and oppositional defiant problems (OR = 4.30). High iAs consumption correlated with the intake of meat, eggs, cereals, tubers, fruits, and pulses Prenatal dietary iAs exposure is associated with various emotional and behavioral problems in children. Monitoring and reducing iAs levels in food are crucial for public health.
PubMed: 38922078
DOI: 10.3390/toxics12060398 -
Journal of Cardiovascular Development... Jun 2024Fetal cardiology has evolved over the last 40 years and changed the timing of diagnosis and counseling of congenital heart disease, decision-making, planning for... (Review)
Review
Fetal cardiology has evolved over the last 40 years and changed the timing of diagnosis and counseling of congenital heart disease, decision-making, planning for treatment at birth, and predicting future surgery from the postnatal to the prenatal period. Ethical issues in fetal cardiology transect multiple aspects of biomedical ethics including improvement in prenatal detection and diagnostic capabilities, access to equitable comprehensive care that preserves a pregnant person's right to make decisions, access to all reproductive options, informed consent, complexity in shared decision-making, and appropriate use of fetal cardiac interventions. This paper first reviews the literature and then provides an ethical analysis of accurate and timely diagnosis, equitable delivery of care, prenatal counseling and shared decision-making, and innovation through in utero intervention.
PubMed: 38921672
DOI: 10.3390/jcdd11060172 -
Healthcare (Basel, Switzerland) Jun 2024Current evidence suggests that airborne pollutants have a detrimental effect on fetal growth through the emergence of small for gestational age (SGA) or term low birth... (Review)
Review
Current evidence suggests that airborne pollutants have a detrimental effect on fetal growth through the emergence of small for gestational age (SGA) or term low birth weight (TLBW). The study's objective was to critically evaluate the available literature on the association between environmental pollution and the incidence of SGA or TLBW occurrence. A comprehensive literature search was conducted across Pubmed/MEDLINE, Web of Science, Cochrane Library, EMBASE, and Google Scholar using predefined inclusion and exclusion criteria. The methodology adhered to the PRISMA guidelines. The systematic review protocol was registered in PROSPERO with ID number: CRD42022329624. As a result, 69 selected papers described the influence of environmental pollutants on SGA and TLBW occurrence with an Odds Ratios (ORs) of 1.138 for particulate matter ≤ 10 μm (PM), 1.338 for particulate matter ≤ 2.5 μm (PM), 1.173 for ozone (O), 1.287 for sulfur dioxide (SO), and 1.226 for carbon monoxide (CO). All eight studies analyzed validated that exposure to volatile organic compounds (VOCs) is a risk factor for SGA or TLBW. Pregnant women in the high-risk group of SGA occurrence, i.e., those living in urban areas or close to sources of pollution, are at an increased risk of complications. Understanding the exact exposure time of pregnant women could help improve prenatal care and timely intervention for fetuses with SGA. Nevertheless, the pervasive air pollution underscored in our findings suggests a pressing need for adaptive measures in everyday life to mitigate worldwide environmental pollution.
PubMed: 38921290
DOI: 10.3390/healthcare12121176 -
African Journal of Reproductive Health Apr 2024While behavioural change interventions are utilized in low- and lower-middle-income countries and may be essential in reducing maternal and child mortality, evidence on...
Effectiveness of behavioural change interventions to influence maternal and child healthcare-seeking behaviour in low and lower-middle-income countries: A systematic review of literature.
While behavioural change interventions are utilized in low- and lower-middle-income countries and may be essential in reducing maternal and child mortality, evidence on the effectiveness of such interventions is lacking. This review provides evidence on the effectiveness of behavioural change interventions designed to improve maternal and child healthcare-seeking behaviour in low- and lower-middle-income countries. We searched three electronic databases (PUBMED, EMBASE, and PsycINFO) for articles published in English and French between January 2013 and December 2022. Studies that evaluated interventions to increase maternal and child healthcare utilization, including antenatal care, skilled birth care, postnatal care, immunization uptake, and medication or referral compliance, were included. We identified and included 17 articles in the review. Overall, 11 studies found significant effects of the behavioural change interventions on the desired healthcare outcomes, 3 found partially significant effects, and 3 did not observe any significant impact. A major gap identified in the literature was the lack of studies reporting the effect of behavioural change interventions on women's non-cognitive and personality characteristics, as recent evidence suggests the importance of these factors in maternal and child healthcare-seeking behaviour in low-resource settings. This review highlights some intervention areas that show encouraging trends in maternal and child healthcare-seeking behaviours, including social influence, health education, and nudging through text message reminders.
Topics: Humans; Patient Acceptance of Health Care; Female; Developing Countries; Pregnancy; Maternal Health Services; Child; Behavior Therapy; Prenatal Care
PubMed: 38920413
DOI: 10.29063/ajrh2024/v28i4.12 -
Cureus May 2024Background Most pregnancy-related complications and undesirable outcomes are preventable by effective interventions at a reasonable cost. These interventions are mainly...
Background Most pregnancy-related complications and undesirable outcomes are preventable by effective interventions at a reasonable cost. These interventions are mainly deployed during the antenatal phase and are included under the umbrella of antenatal care (ANC). To our knowledge, no studies have been conducted to assess the adequacy of ANC in Saudi Arabia. This study aimed to measure and quantify the adequacy of ANC provided by the Ministry of Health (MoH) facilities in Jeddah and to determine potential factors influencing ANC. Methodology In this cross-sectional study, we used the Adequacy of Perinatal Care Utilization index to measure the adequacy of ANC. Data were collected from September 2023 to March 2024 in two randomly selected MoH hospitals by interviewing mothers and collecting data from medical records. Results A total of 303 mothers participated in this study. Mothers' mean age was 31 years, and 50% of them had received higher school education. Prevalence of adequate ANC was 64.7%. There was a significant association between the adequacy of ANC and mothers' level of education (p < 0.001), time taken to reach the nearest primary care center (p < 0.001), number of total pregnancies (p < 0.034), and the total number prenatal visits (p < 0.001). Conclusions This is the first study to shed light on the prevalence of adequacy of ANC in Saudi Arabia and its associated factors. This study would pave the way to investigate the adequacy of ANC on a national level and will aid policymakers in developing and implementing effective ANC preventive measures, hence helping improve women's health and their babies.
PubMed: 38919229
DOI: 10.7759/cureus.61113