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Frontiers in Cellular and Infection... 2024In recent years, a growing body of research has confirmed that the gut microbiota plays a major role in the maintenance of human health and disease. A gut microbiota... (Review)
Review
In recent years, a growing body of research has confirmed that the gut microbiota plays a major role in the maintenance of human health and disease. A gut microbiota imbalance can lead to the development of many diseases, such as pregnancy complications, adverse pregnancy outcomes, polycystic ovary syndrome, endometriosis, and cancer. Short-chain fatty acids are metabolites of specific intestinal bacteria and are crucial for maintaining intestinal homeostasis and regulating metabolism and immunity. Endometriosis is the result of cell proliferation, escape from immune surveillance, and invasive metastasis. There is a strong correlation between the anti-proliferative and anti-inflammatory effects of short-chain fatty acids produced by gut microbes and the development of endometriosis. Given that the mechanism of action of gut microbiota and Short-chain fatty acids in endometriosis remain unclear, this paper aims to provide a comprehensive review of the complex interactions between intestinal flora, short-chain fatty acids and endometriosis. In addition, we explored potential microbial-based treatment strategies for endometriosis, providing new insights into the future development of diagnostic tests and prevention and treatment methods for endometriosis.
Topics: Endometriosis; Humans; Female; Gastrointestinal Microbiome; Fatty Acids, Volatile; Animals; Bacteria; Probiotics
PubMed: 38938880
DOI: 10.3389/fcimb.2024.1373004 -
PeerJ 2024To determine the association between lipid metabolism and intrahepatic cholestasis of pregnancy (ICP), and explore the value of maternal alanine...
Evaluation of alanine aminotransferase/aspartate aminotransferase ratio and high-density lipoprotein for predicting neonatal adverse outcomes associated with intrahepatic cholestasis of pregnancy.
BACKGROUND
To determine the association between lipid metabolism and intrahepatic cholestasis of pregnancy (ICP), and explore the value of maternal alanine aminotransferase/aspartate aminotransferase (ALT/AST) and high-density lipoprotein (HDL) in predicting adverse neonatal outcomes in women with ICP.
METHODS
A total of 147 pregnant women with ICP admitted to The Fourth Hospital of Shijiazhuang and 120 normal pregnant women in the same period were selected in this study. The Mann-Whitney U test and Chi-square tests were used to compare the differences in clinical data. Multivariate logistic regression was used to analyze the relationship between ALT/AST and the occurrence of adverse pregnancy outcomes in patients with ICP. The combined predictive value of ALT/AST and HDL was determined by receiver operating characteristic (ROC) curve analysis.
RESULTS
Among 147 women with ICP, 122 women had total bile acid (TBA) levels of 10-39.9 µmol/L, and 25 had TBA ≥ 40 µmol/L. There was significantly lower gestational age in patients with severe ICP than in those with mild and control groups (all < 0.05), and the weight of newborns in the maternal ICP group was significantly lower than in the control group ( < 0.05). Increasing TBA levels was associated with higher AST, ALT, ALT/AST, and lower HDL level (all < 0.05). Meanwhile, higher levels of ALT/AST was positively associated with neonatal hyperbilirubinemia [adjusted odds ratio (AOR) = 4.019, 95% CI [1.757-9.194, = 0.001] and cardiac injury [AOR = 3.500, 95% CI [1.535-7.987], = 0.003]. HDL was a significant protective factor for neonatal hyperbilirubinemia and cardiac injury [AOR = 0.315, 95% CI [0.126-0.788], = 0.014; AOR = 0.134 (0.039-0.461), = 0.001]. The area under the ROC curve (AUC) for prediction of neonatal hyperbilirubinemia by ALT/AST combined with HDL was 0.668 [95% CI [56.3-77.3%], = 0.002], and the sensitivity and specificity were 47.1% and 84.0%, respectively. To predict neonatal cardiac injury, the AUC value was 0.668 [95% CI [56.4-77.1%], = 0.002], with sensitivity and specificity were 41.2% and 87.1%, respectively.
CONCLUSIONS
The levels of higher ALT/AST and lower HDL were significantly associated with the risk of ICP-related adverse neonatal outcomes. Moreover, ALT/AST combined with HDL has moderate clinical value in predicting the adverse outcomes of neonatal hyperbilirubinemia and cardiac injury.
Topics: Humans; Female; Pregnancy; Cholestasis, Intrahepatic; Pregnancy Complications; Alanine Transaminase; Adult; Aspartate Aminotransferases; Infant, Newborn; Lipoproteins, HDL; Pregnancy Outcome; ROC Curve; Predictive Value of Tests; Biomarkers; Case-Control Studies
PubMed: 38938614
DOI: 10.7717/peerj.17613 -
Frontiers in Medicine 2024Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a... (Review)
Review
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their potential pregnancy outcomes. NIPT was primarily designed for screening trisomy 13, 18, and 21. However, its scope has since broadened to encompass microdeletions and autosomal dominant monogenic diseases. Conversely, the normalization of NIPT can have unintended consequences. Some patients opt for NIPT without any medical indications, driven by a desire to remain cautious. This over-screening for chromosomal abnormalities can exacerbate pregnancy-related anxiety, as individuals might feel pressured into taking the test unnecessarily. While NIPT can be highly successful when conducted correctly, it is not infallible, and obstetricians play a crucial role in managing patient expectations. This includes providing genetic counseling to individuals with relevant genetic information regarding their personal and family histories. In the context of NIPT, a bioinformatics analysis is performed on a cell-free DNA (cfDNA) sample extracted from the mother's placenta to determine the fetal fraction (FF). This FF measurement is vital for quality control and ensuring statistical confidence in the test results. Raising awareness among clinicians about the significance of FF enhances patient care and alleviate concerns about the possibility of failed NIPT. This paper aims to explore the ongoing debates and more specifically the significance and pitfalls of NIPT on a psychosocial and ethical scale, all while highlighting the importance of genetic counseling.
PubMed: 38938382
DOI: 10.3389/fmed.2024.1388481 -
JACC. Advances Oct 2023Patients with congenital heart disease (CHD) have a higher incidence of arrhythmias during pregnancy, yet the utility of mobile cardiac telemetry (MCT) to predict...
BACKGROUND
Patients with congenital heart disease (CHD) have a higher incidence of arrhythmias during pregnancy, yet the utility of mobile cardiac telemetry (MCT) to predict adverse outcomes is unknown.
OBJECTIVES
The purpose of this study is to determine whether arrhythmias on screening MCT correlate with adverse pregnancy outcomes.
METHODS
Patients with CHD prospectively enrolled in the Standardized Outcomes in Reproductive Cardiovascular Care initiative underwent 24-hour MCT (within 18 months prior to pregnancy). Positive findings on MCT were defined as episodes of bradyarrhythmia, symptomatic atrioventricular block, ectopic atrial or ventricular activity, and supraventricular or ventricular tachycardia. Clinically significant arrhythmia events (CSAEs) were those requiring medical or device intervention or an emergency room visit. Clinical events during the antepartum, intrapartum, and postpartum periods were compared using Fisher's exact test. Analyses were performed using Stata version 16.
RESULTS
In 141 pregnancies in 118 patients with CHD, MCT detected positive findings in 17%. Adverse cardiac outcomes occurred in 11% of pregnancies, of which CSAE occurred in 3.5%. Positive MCT was significantly associated with subsequent CSAE (21% vs 0%, < 0.001) and cumulative adverse maternal cardiac outcomes (33% vs 7%, = 0.001) but did not correlate with obstetric (46% vs 41%, = 0.660) or neonatal outcomes (33% vs 31%, = 0.810). Of the patients with CSAE, 75% had ≥moderate CHD complexity.
CONCLUSIONS
Patients with CHD had a high rate of positive MCT findings. This was associated with CSAE and adverse maternal cardiac outcomes. Patients with ≥moderate CHD complexity may benefit from screening MCT to improve preconceptual counseling and planning.
PubMed: 38938332
DOI: 10.1016/j.jacadv.2023.100593 -
JACC. Advances Jun 2023Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality....
BACKGROUND
Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality. The placenta develops concomitantly with the fetal heart. High rates of placental pathology and discordant growth in pregnancies affected by CHD highlight the significance of the fetal-placental-cardiac axis.
OBJECTIVES
This study aimed to characterize the relationship between neonatal birthweight (BW), head circumference, placental weight (PW), and placental pathology in pregnancies affected by CHD. PW:BW provides a surrogate to assess placental efficiency, or nutrient exchange and delivery by the placenta, across CHD phenotypes.
METHODS
Retrospective cohort of 139 live-born singletons with postnatally confirmed CHD with placental pathology. Placental examination, infant BW, head circumference, and CHD categories (septal defects, right-sided defects, left-sided defects, conotruncal anomalies, and others) were included. Chi-square, Fisher's exact, or Kruskall-Wallis tests and multinomial logistic regressions, as appropriate.
RESULTS
Median birthweight and head circumference percentile was 33 and 35, respectively. Placental pathology was documented in 37% of cases. PW to BW ratios were <10th percentile for 78% and <3rd percentile for 54% of the cohort, with no difference between CHD categories ( = 0.39 and = 0.56, respectively).
CONCLUSIONS
Infants with CHD have preserved BW and head circumferences in the setting of small placentas and increased prevalence of placental pathology, suggesting placental efficiency. Detection of abnormal placental growth could add prenatal diagnostic value. Placental and neonatal discordant growth may allude to a vascular anomaly predisposing fetuses to developing CHD. Further studies are needed to explore fetal nutrient delivery and utilization efficiency.
PubMed: 38938228
DOI: 10.1016/j.jacadv.2023.100383 -
Health Technology Assessment... Jun 2024Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by...
BACKGROUND
Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by multiple benefits and harms, are justifiable. It is not known what benefits and harms have been adopted by economic evaluations assessing these programmes and whether they omit benefits and harms considered important to relevant stakeholders.
OBJECTIVES
(1) To identify the benefits and harms adopted by health economic assessments in this area, and to assess how they have been measured and valued; (2) to identify attributes or relevance to stakeholders that ought to be considered in future economic assessments; and (3) to make recommendations about the benefits and harms that should be considered by these studies.
DESIGN
Mixed methods combining systematic review and qualitative work.
SYSTEMATIC REVIEW METHODS
We searched the published and grey literature from January 2000 to January 2021 using all major electronic databases. Economic evaluations of an antenatal or newborn screening programme in one or more Organisation for Economic Co-operation and Development countries were considered eligible. Reporting quality was assessed using the Consolidated Health Economic Evaluation Reporting Standards checklist. We identified benefits and harms using an integrative descriptive analysis and constructed a thematic framework.
QUALITATIVE METHODS
We conducted a meta-ethnography of the existing literature on newborn screening experiences, a secondary analysis of existing individual interviews related to antenatal or newborn screening or living with screened-for conditions, and a thematic analysis of primary data collected with stakeholders about their experiences with screening.
RESULTS
The literature searches identified 52,244 articles and reports, and 336 unique studies were included. Thematic framework resulted in seven themes: (1) diagnosis of screened for condition, (2) life-years and health status adjustments, (3) treatment, (4) long-term costs, (5) overdiagnosis, (6) pregnancy loss and (7) spillover effects on family members. Diagnosis of screened-for condition (115, 47.5%), life-years and health status adjustments (90, 37.2%) and treatment (88, 36.4%) accounted for most of the benefits and harms evaluating antenatal screening. The same themes accounted for most of the benefits and harms included in studies assessing newborn screening. Long-term costs, overdiagnosis and spillover effects tended to be ignored. The wide-reaching family implications of screening were considered important to stakeholders. We observed good overlap between the thematic framework and the qualitative evidence.
LIMITATIONS
Dual data extraction within the systematic literature review was not feasible due to the large number of studies included. It was difficult to recruit healthcare professionals in the stakeholder's interviews.
CONCLUSIONS
There is no consistency in the selection of benefits and harms used in health economic assessments in this area, suggesting that additional methods guidance is needed. Our proposed thematic framework can be used to guide the development of future health economic assessments evaluating antenatal and newborn screening programmes.
STUDY REGISTRATION
This study is registered as PROSPERO CRD42020165236.
FUNDING
This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: NIHR127489) and is published in full in ; Vol. 28, No. 25. See the NIHR Funding and Awards website for further award information.
Topics: Humans; Infant, Newborn; Neonatal Screening; Cost-Benefit Analysis; Female; Pregnancy; Qualitative Research; Technology Assessment, Biomedical; Prenatal Diagnosis; Quality-Adjusted Life Years
PubMed: 38938110
DOI: 10.3310/PYTK6591 -
The Lancet. Diabetes & Endocrinology Jun 2024More than 90% of gestational diabetes cases are estimated to occur in low-income and middle-income countries (LMICs). Most current guidelines recommend an oral glucose...
BACKGROUND
More than 90% of gestational diabetes cases are estimated to occur in low-income and middle-income countries (LMICs). Most current guidelines recommend an oral glucose tolerance test (OGTT) at 24-28 weeks of gestation. The OGTT is burdensome, especially in LMICs, resulting in a high proportion of women not being screened. We aimed to develop a simple and effective screening strategy for gestational diabetes.
METHODS
STRiDE, a prospective cohort study, was set up in seven centres in south India and seven centres in western Kenya, and included pregnant women aged 18-50 years of age and at less than 16 weeks of gestation (<20 weeks in Kenya), confirmed by dating ultrasound. We assessed the efficacy of early pregnancy HbA (venous and capillary point-of-care), either alone or as part of a composite risk score with age, BMI, and family history of diabetes, in predicting gestational diabetes at 24-28 weeks of gestation, in two LMICs (India and Kenya) and in a UK multi-ethnic population from the PRiDE study. A key secondary outcome was to assess whether an early pregnancy composite risk score can reduce the need for OGTTs. Gestational diabetes was diagnosed using current WHO criteria.
FINDINGS
Between Feb 15, 2016, Dec 13, 2019, we enrolled 3070 participants in India and 4104 in Kenya. 4320 participants were included from the PRiDE cohort. Gestational diabetes prevalence by OGTT at 24-28 weeks was 19·2% in India, 3·0% in Kenya, and 14·5% in the UK. Early pregnancy HbA was independently associated with incidence of gestational diabetes at 24-28 weeks of gestation. Adjusted risk ratios were 1·60 (95% CI 1·19-2·16) in India, 3·49 (2·8-4·34) in Kenya, and 4·72 (3·82-5·82) in the UK. Composite risk score models that combined venous or point-of-care HbA with age, BMI, and family history of diabetes best predicted testing positive for gestational diabetes. A population-specific, two-threshold screening strategy of rule-in and rule-out gestational diabetes using early pregnancy composite risk score could reduce the requirement of OGTTs by 50-64%. For the HbA-alone model, the thresholds were 5·4% (rule in) and 4·9% (rule out) in India, 6·0% (rule in) and 5·2% (rule out) in Kenya, and 5·6% (rule in) and 5·2% (rule out) in the UK.
INTERPRETATION
Early pregnancy HbA offers a simple screening test for gestational diabetes, allowing those at highest risk to receive early intervention and greatly reduce the need for OGTTs. This can also be carried out using point-of-care HbA in LMICs.
FUNDING
UK Medical Research Council and the Indian Department of Biotechnology.
PubMed: 38936371
DOI: 10.1016/S2213-8587(24)00151-7 -
International Journal of Surgery... Jun 2024To develop a multimodal learning application system that integrates electronic medical records (EMR) and hysteroscopic images for reproductive outcome prediction and...
Multimodal learning system integrating electronic medical records and hysteroscopic images for reproductive outcome prediction and risk stratification of endometrial injury: a multicenter diagnostic study.
OBJECTIVE
To develop a multimodal learning application system that integrates electronic medical records (EMR) and hysteroscopic images for reproductive outcome prediction and risk stratification of patients with intrauterine adhesions (IUAs) resulting from endometrial injuries.
MATERIALS AND METHODS
EMR and 5014 revisited hysteroscopic images of 753 post hysteroscopic adhesiolysis patients from the multicenter IUA database we established were randomly allocated to training, validation, and test datasets. The respective datasets were used for model development, tuning, and testing of the multimodal learning application. MobilenetV3 was employed for image feature extraction, and XGBoost for EMR and image feature ensemble learning. The performance of the application was compared against the single-modal approaches (EMR or hysteroscopic images), DeepSurv and ElasticNet models, along with the clinical scoring systems. The primary outcome was the 1-year conception prediction accuracy, and the secondary outcome was the assisted reproductive technology (ART) benefit ratio after risk stratification.
RESULTS
The multimodal learning system exhibited superior performance in predicting conception within 1-year, achieving areas under the curves of 0.967 (95% CI: 0.950-0.985), 0.936 (95% CI: 0.883-0.989), and 0.965 (95% CI: 0.935-0.994) in the training, validation, and test datasets, respectively, surpassing single-modal approaches, other models and clinical scoring systems (all P<0.05). The application of the model operated seamlessly on the hysteroscopic platform, with an average analysis time of 3.7±0.8 s per patient. By employing the application's conception probability-based risk stratification, mid-high-risk patients demonstrated a significant ART benefit (odds ratio=6, 95% CI: 1.27-27.8, P=0.02), while low-risk patients exhibited good natural conception potential, with no significant increase in conception rates from ART treatment (P=1).
CONCLUSIONS
The multimodal learning system using hysteroscopic images and EMR demonstrates promise in accurately predicting the natural conception of patients with IUAs and providing effective postoperative stratification, potentially contributing to ART triage after IUA procedures.
Topics: Humans; Female; Hysteroscopy; Adult; Electronic Health Records; Risk Assessment; Endometrium; Tissue Adhesions; Pregnancy; Uterine Diseases; Reproductive Techniques, Assisted
PubMed: 38935827
DOI: 10.1097/JS9.0000000000001241 -
PloS One 2024In South Africa, uptake of HIV services remains lower amongst men compared to women, resulting in poorer clinical outcomes. Several factors contribute to this situation,...
INTRODUCTION
In South Africa, uptake of HIV services remains lower amongst men compared to women, resulting in poorer clinical outcomes. Several factors contribute to this situation, including stigma, confidentiality concerns, inconvenient clinic operating hours, fear of an HIV-positive test result, and long-waiting times. Additionally, women living with HIV are frequently identified whilst accessing other routine services, particularly antenatal and well-baby care. Novel approaches and strategies are needed to increase men's routine utilization of health services. For many men, fatherhood is an important part of being a man. Maternal, neonatal and child health services (MNCH) present an opportunity to improve male engagement with routine health services and subsequent uptake of integrated HIV care. However, men's involvement in MNCH services remains low. This study explored the concept of fatherhood and factors influencing men's involvement in MNCH services.
METHODS
This was an exploratory, qualitative study. Three focus group discussions (FGDs), involving 33 male participants, were conducted with men living in communities across Johannesburg. Men were recruited by male peer counsellors, employed by Anova Health Institute under the men's health programme. Data was collected between May and July 2021. Authors had no access to information that identify individual participants during or after data collection. Data were transcribed inductively and analyzed thematically using NVivo software.
RESULTS
The study found that male participants were eager to be involved in MNCH services. They valued fatherhood and were making concerted efforts to be involved fathers. However, multiple factors influenced men's involvement in MNCH services. Barriers included sociocultural norms, employment commitments, boredom and disengagement while waiting for services, negative staff attitudes and long waiting times. Participants identified multiple facilitators that would encourage their attendance at MNCH services including positive staff attitudes, quick service, active engagement, positive affirmations by health care workers and the visibility of male health workers' in MNCH spaces.
CONCLUSIONS
The study highlights that men strongly desire to be involved fathers and included in MNCH services. HIV programmes should support this and harness it to actively engage men in HIV services. However, to encourage greater male involvement in MNCH, socio-economic and healthcare system related factors need to be addressed when designing strategies that create more inclusive, family-orientated, male-friendly, and integrated MNCH services.
Topics: Humans; Male; South Africa; HIV Infections; Fathers; Adult; Female; Focus Groups; Infant, Newborn; Qualitative Research; Child; Middle Aged; Young Adult; Child Health; Social Stigma; Pregnancy
PubMed: 38935612
DOI: 10.1371/journal.pone.0296955 -
JCEM Case Reports Jun 2024Isolated 17,20-lyase deficiency (ILD) is a partial form of 17α-hydroxylase/17,20-lyase deficiency that typically presents with infertility and lack of pubertal...
Isolated 17,20-lyase deficiency (ILD) is a partial form of 17α-hydroxylase/17,20-lyase deficiency that typically presents with infertility and lack of pubertal development. Successful live births have been achieved using assisted reproductive techniques. We present a case of spontaneous pregnancy in an 18-year-old female with ILD without reproduction treatments or glucocorticoid use. She presented to our clinic with absence of pubarche and oligomenorrhea and had typical external genitalia and complete breast development. Follicular phase progesterone and estradiol were within reference values, and androgen levels were undetectable. Corticosterone was increased, and cortisol responded partially to the ACTH-stimulation test. This profile raised a suspicion for ILD, which was confirmed by the finding of the homozygous p.R347H variant in the gene. Sex steroid replacement and glucocorticoid use during stress were prescribed. She returned 2 years later 20 weeks pregnant. Her gestation was uneventful, and a full-term healthy male was born. This phenomenon could be partially explained by sufficient estrogen synthesis via residual 17,20-lyase enzymatic activity. Intermittent estradiol use may have favored uterine development and fine-tuned the pituitary-gonadal axis rhythm. Normal progesterone levels may have permitted an adequate endometrial "implantation window" without glucocorticoid use. Finally, elevated corticosterone may have compensated for the partial cortisol deficiency.
PubMed: 38933733
DOI: 10.1210/jcemcr/luae100