Maternal History Research Articles

Association between infertility and cervical insufficiency in nulliparous women- the contribution of fertility treatment

Pregnancies conceived through assisted reproduction have been associated with increased risks of adverse pregnancy and delivery outcomes, including cervical insufficiency (CI). Despite CI being a significant cause of late miscarriage or preterm birth, there are minimal published data on the associations of infertility (with or without fertility treatment) with CI. This study uses Swedish national health registers to examine the associations between infertility, assisted reproduction and CI in nulliparous women. This population-based case-control study is based on data from Swedish national health registers. Using the information on parity and multiple gestation in the Medical Birth Register, singleton pregnancies of nulliparous women were extracted and linked to the National Patient Register and the National Quality Register for Assisted Reproduction. Using diagnostic codes for CI and procedural codes for cervical cerclage, a total of 2662 CI cases were identified for deliveries in the 21-year period, 1992-2012. A reference group of 26,620 controls were extracted from the population of non-cases using simple random sampling.. Infertility was classified using a woman's report of difficulty conceiving for at least one year. Fertility treatment was assessed through self-reported variables in the Medical Birth Register and fertility treatment registration in the National Quality Register for Assisted Reproduction. On adjusting for maternal characteristics and medical history, infertility was associated with CI, overall (adjusted odds ratio (aOR) ) 1.91 (1.53, 2.39) and in the subgroup of non-users of fertility treatment (aOR) 1.60 (1.21, 2.12), compared to women without infertility. Among women with infertility, pregnancies conceived with the aid of fertility treatment had higher risk of CI than naturally-conceived pregnancies (aOR 1.49 (1.05, 2.10). In the subgroup of women with infertility and no history of miscarriage, the use of fertility treatment was associated with CI (aOR 3.48 (2.02. 5.98)). No association was found between fertility treatment and CI in the pregnancies of women with infertility and a history of miscarriage. From this study, we conclude that CI in nulliparous women is associated with both infertility and its treatment. For infertile women, the risk of CI following fertility treatment was seen only in those with no history of miscarriage, providing crucial information for improving risk assessment and management strategies for preterm birth prevention in populations availing of fertility treatment.

Fetal meconium peritonitis after maternal hepatitis B: a case report and review of the literature.

Maternal hepatitis virus has rarely been implicated in fetal meconium peritonitis (FMP), and its underlying mechanism is largely unknown. We describe a case of FMP presumably caused by maternal chronic hepatitis B virus (HBV). A 29-year-old primigravid woman was referred to our hospital at 35 weeks of gestation for the disappearance of fetal movements. The maternal prenatal history included HBV for more than 10 years. Her HBV DNA level was suppressed (<20 IU/mL) and she was taking oral tenofovir disoproxil fumarate (300 mg/day). At 21+5 weeks, fetal ascites, echogenic bowel, and intra-abdominal calcifications were observed by abdominal ultrasound. These findings were confirmed by magnetic resonance imaging and were regarded as diagnostic for FMP. Cord blood and amniotic fluid were positive for hepatitis B e antigen and hepatitis B surface antigen. Ascites of the FMP was completely self-absorbed at 27+3 weeks. At 35 weeks of gestation, fetal movements had vanished and male stillbirth was induced. A histopathological examination of the placenta showed meconium uptake by macrophages in the amniochorionic membranes. Our findings suggest that maternal HBV can cross the placenta and induce FMP. Close surveillance may allow an early diagnosis of FMP and prevent fetal mortality.

The Relationship between Maternal Education Level, Exclusive Breastfeeding and History of Infectious Diseases with the Incident of Stunting in Toddlers

Stunting is a problem of chronic malnutrition caused by insufficient nutritional intake over a long period of time due to intake that is not in accordance with nutritional needs. Stunting can occur from the fetus in the womb and only appears when the child is two years old. Nutritional status not only describes the problem of deficiencies in certain nutrients, but is also related to the level of health and chronic diseases a person has. This research aims to determine the relationship between maternal education, exclusive breastfeeding and a history of infectious diseases with the incidence of stunting in toddlers in the working area of the Teluk Tiram Community Health Center, Banjarmasin. This type of analytical observational research with a cross sectional design. The population in this study were all mothers of toddlers in Teluk Tiram Village, totaling 770 toddlers. Samples were taken using accidental sampling of 20 people. Primary data in the form of respondent characteristics, mother's education level, exclusive breastfeeding and history of infectious diseases were obtained through interviews using questionnaires and nutritional status was obtained by anthropometric measurements (PB/U or TB/U). Data analysis using the Spearman's rho test. The results of research using the Spearman's rho test showed that there was no relationship between maternal education and the incidence of stunting (p=0.652), there was no relationship between exclusive breastfeeding and the incidence of stunting (p=0.126) and there was no relationship between a history of infectious diseases. with the incidence of stunting (p=0.643).

Perinatal Transmission of Dengue in a Neonate: A Case Report

Vertical transmission of dengue is rare. However, the rapid rise of dengue infection is a risk in pregnancy which can lead to preterm delivery, low birth weight, stillbirth, miscarriage, neonatal morbidity and mortality. Here, we present a case of perinatal transmission of dengue in a term neonate who presented with fever on second day of life and desaturation without respiratory distress. Laboratory findings showed thrombocytopenia, dengue Ag NS1/IgM positive and treatment was started. There was positive maternal history of dengue 10 days prior to delivery. Hence, early investigations with prompt interventions was done leading to uneventful recovery.

First-degree family history of cancers in patients with stage I endometrial carcinoma. Prevalence and prognostic impact.

We aimed to study the impact of first-degree family history on patients with endometrial cancer. We conducted a retrospective chart review from January 1990 to June 2016, comparing stage I endometrial cancer patients with and without a sporadic family history of cancers. We collected the patients' demographic information, tumor characteristics, and treatment plans. During the follow-up period, patient information on tumor recurrence and survival was collected. The chi-square test was used to assess the associations between categorical variables. The Cox proportional hazards regression model was used to estimate multivariate-adjusted hazard ratios (95% confidence interval (CI)). Among the 1737 patients with stage I endometrial cancer, 709 had a positive first-degree family history of cancers and 1028 had negative family history (FH) of cancers. Patients with positive FH were more likely to be older, have stage IB disease, and receive adjuvant radiotherapy; however, the difference was not statistically significant. At 5years follow up, patients with a positive family history had longer time to recurrence (TTR) than their negative FH counterparts. Maternal family history of cancer was the most common, followed by a sister's history of cancer, paternal history, brother's history, and offspring history of cancer. Breast, endometrial, and colon cancers are the most common cancers among first-degree relatives. Endometrial cancer patients with sporadic first-degree FH of cancers share similar demographics and tumor characteristics compared to their counterpart with slightly increased likelihood to be older, with stage IB disease and have a longer TTR compared to their negative counterpart.

The maternal genetic history of tribal populations of Chhattisgarh, India

The central region of India boasts a rich tribal heritage and the highest number of tribal populations in the country. Analysing the genetic history of this population can offer valuable insights into various demographic processes that shaped the gene pool of present-day settlers of this region. In this study, we utilize a recently validated Next-generation sequencing (NGS) technique to sequence 24 tribal mitogenomes from the Chhattisgarh population for genetic ancestry and forensic analysis. The identified ancient haplogroups in this population can be traced back to the pre-Last Glacial Maximum (LGM) period. Our Bayesian analysis provides evidence for maternal ancestral expansion following the earliest Out-of-Africa migration, followed by a prolonged steady phase. We identified three basal founding haplogroups, M2, R5, and U2 in the Chhattisgarh region that diversified during the Neolithic period. Indistinct distribution pattern of these haplogroups among tribes and castes suggests that the maternal ancestry of Chhattisgarh population predates any kind of social stratification that exists today in the Indian subcontinent. Furthermore, our analysis suggests that this region remained unaffected by the Last Glacial Maximum. The forensic analysis of the mitogenomes demonstrates a high power of discrimination (0.9256) within the Chhattisgarh population, thus supporting the applicability of mitogenome NGS technology in forensic contexts.

Prevalence of Congenital Heart Defects and their Non-Inherited Risk Factors among Children through the Period 2019-2023: A Retrospective Comparative Study

Background: Congenital heart defects (CHD) are the most common types of congenital disabilities. The frequency of CHD among their patient populations also remains the leading cause of their increased mortality, accounting for an estimated 50% of all causes of death from abnormalities. Objectives: The study aimed to identify the prevalence of non-inherited risk factors among children with cardiac defects and compare the prevalence of congenital heart defects among children in different governorates in Iraq related to non-inherited risk factors. Materials and Methods: A retrospective study design was used to study congenital heart defects in children in Babylon Centre for Catheterization and Cardiac Surgery in Al-Imam Sadiq Hospital Babylon province, Iraq, from 15/10/2023 to 13/6/2024. A nonprobability convenience sample of 542 patients aged 0-18 years with CHD was collected by administering a constructed tool for the study. The data were collected from all Iraqi governorates, including the north, center, and south, as well as east and west countries. Result: The study shows the mean age of children was 2.2 ±9.2 years. The majority of children included were within infant age groups, almost equal in their sexes, giving girl to boy, 1.04:1. The age at screening and diagnosis of Echo was more than half in the first month, and the type of defect was Ventricular-septal-defect (VSD) and Tetralogy of Fallot (TOF). The study findings show that there is a statistically significant relationship between risk factors related to maternal medication history, including Folic acid Supplements. Maternal diseases such as Rubella, with CHD, and the highest recorded governorates for congenital heart defects are Baghdad, Mosul, and Diyala. Conclusions: The study concludes that most children included were within infant age groups, almost equal in their sexes, and the highest recorded governorates for congenital heart defects are Baghdad, Mosul, and Diyala. Also, the most frequent CHD is VSD and TOF, the history of maternal medication use, including folic acid supplements, and maternal diseases such as Rubella were significant factors in assessing the risk or outcome.

Neonatal Hyperthyroidism: Case Report and Literature Review

The onset of Graves' disease during pregnancy exposes the newborn to the risk of neonatal hyperthyroidism due to the transplacental passage of anti-thyroid-stimulating hormone (TSH) receptor antibodies. We report the case of a child whose mother was diagnosed with Graves' disease during pregnancy. Clinical hyperthyroidism appeared only a few days after birth and was confirmed by hormonal tests. Thanks to treatment with synthetic antithyroid drugs, the child's clinical and biological course was favorable. It is essential to systematically screen for neonatal hyperthyroidism in newborns of mothers with Graves' disease, as the absence of immediate clinical signs after birth does not rule out the diagnosis. The pediatrician must be aware of this thyroid condition even in the absence of an identified maternal history, in order to enable rapid therapeutic management.

Cervical length evolution in pregnancy and prediction of preterm delivery.

To construct reference charts for cervical length (CL) in pregnancy based on longitudinal measurements and to assess the value of measuring cervical length after 24weeks of gestation. CL was measured transvaginally in singleton pregnancies at 5 to 41weeks. Pregnancies with more than one measurement were used for creating the CL chart, whereas any measurement after 24weeks was considered for assessing the correlation of CL with preterm delivery. The dataset consisted of 12,601 pregnancies and 33,899 observations. Gestational age was the main predictor of CL (R2 = 67.3%). Further adjustments in the fixed effects part for maternal characteristics (age, BMI, smoking status, parity, history of miscarriage, and cervical surgery) improved the prediction ability (R2 = 78.4%). CL was predictive of spontaneous preterm delivery before 37weeks when measured at any gestation between 24 and 35weeks and it was predictive of spontaneous preterm delivery before 32weeks when measured between 28 and 31weeks (AUC = 0.68). Gestational age is the main predictor of CL followed by maternal characteristics and history. CL assessment between 24 and 35 + 6weeks can enhance our ability to predict spontaneous preterm delivery.

Maternal vascular indices at 36 weeks' gestation in pregnancy with small or growth-restricted fetus.

To compare maternal vascular indices and hemodynamic parameters at 35-37 weeks' gestation in pregnancies complicated by delivery of a small-for-gestational-age (SGA) or growth-restricted (FGR) neonate. This was a prospective observational study of women with a singleton pregnancy attending for a routine hospital visit at 35 + 0 to 36 + 6 weeks' gestation. The visit included recording of maternal demographic characteristics, medical history, vascular indices and hemodynamic parameters, which were obtained using a non-invasive operator-independent device and included pulse-wave velocity, augmentation index, cardiac output, stroke volume, central systolic and diastolic blood pressure, total peripheral resistance and heart rate. Women with hypertensive disorders of pregnancy were excluded. SGA was diagnosed if birth weight was < 10th percentile. FGR was diagnosed if, in addition to birth weight < 10th percentile, at the 35-37-week scan, uterine artery or umbilical artery pulsatility index (PI) was > 95th percentile or fetal middle cerebral artery PI was < 5th percentile. Among the 6413 women included in the study, there were 605 (9.4%) cases of SGA, 133 (2.1%) cases of FGR and 5675 (88.5%) cases that were unaffected by SGA or FGR. Women with SGA or FGR, compared to unaffected pregnancies, had increased peripheral vascular resistance and reduced cardiac output. Central systolic and diastolic blood pressure were increased in the FGR group compared with the unaffected group. Aortic stiffness, as assessed by pulse-wave velocity, and augmentation index did not differ between affected and unaffected pregnancies. In the FGR group, compared with the SGA group, central systolic and diastolic blood pressure were higher, whereas heart rate was lower. SGA and FGR pregnancies exhibit deranged maternal hemodynamic responses compared with unaffected pregnancies. Pregnancies with FGR have higher central blood pressure compared to those with SGA, but it remains unclear whether these differences are driven by the size of the fetus or pathological fetal growth. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

It's Not Just What Parents Say, It's Why They Say It: Students' Perceptions of Parents' Motives for Alcohol Communication.

Previous work has investigated parents' reports of motives for communicating with their young adults about alcohol. While parents' self-reported motives may predict intentions to communicate, young adults' perceptions of their parents' motives may be important for understanding young adults' responses to parent alcohol communication. The present study was conducted to explore college students' perceptions of their parents' motives for alcohol communication and to investigate whether perceptions of these motives predict changes in alcohol consumption and related consequences during the transition to college. First-year college students (N = 306) participated in a longitudinal survey study. Baseline measures at pre-matriculation (T1) included assessments of student perceptions of their parents' motives for alcohol communication and covariates (e.g., perceived peer descriptive drinking norms, parental modeling and alcohol communication, and drinking and consequences). At a 1-month follow-up (T2), students reported on their alcohol use and consequences. Controlling for other predictors of college student drinking, results indicate that for each one-unit increase in perceived parental reactive communication motives, the incidence rate of typical weekly drinking increased by 9%, and heavy episodic drinking (HED) increased by 21%. Conversely, the incidence rate of HED decreased by 27% for each one-unit increase in perceived maternal family history communication motives. These findings suggest that college students' perceptions of their parents' motives for alcohol communication can significantly influence their drinking behavior during the transition to college.

Impact of isolated fetal congenital heart disease on pregnancy and perinatal outcomes.

The aim of the present study was to evaluate the obstetric complications associated with isolated fetal congenital heart disease (CHD) by comparing pregnancies with and without this condition. In this retrospective matched comparative study at Siriraj Hospital, Thailand, we included 233 postnatally confirmed fetal CHD cases and 466 unaffected fetuses. Controls were selected at a 2:1 ratio, ensuring that they matched the cases in terms of maternal age, parity, and history of preterm deliveries. Fetal CHD was significantly associated with an increased risk of spontaneous preterm labor (30% vs 9.7%; adjusted odds ratio [aOR] 2.42; 95% confidence interval [CI]: 1.35-4.36; P = 0.003), delivery before 34 gestational weeks (11.6% vs 0.6%; aOR 12.33; 95% CI: 3.32-45.78; P < 0.001), and pre-eclampsia (11.6% vs 2.8%; aOR 2.19; 95% CI: 1.01-4.76; P = 0.047). Newborns with CHD were significantly more likely to be small for gestational age (10.7% vs 5.2%; aOR 2.09; 95% CI: 1.11-3.94; P = 0.022). Intriguingly, a prenatal diagnosis of CHD was associated with a reduced risk of preterm delivery in affected pregnancies (P = 0.002). Pregnancies affected by isolated fetal CHD demonstrated a higher propensity for several adverse outcomes. These findings underscore the importance of prenatal CHD detection and tailored perinatal care to potentially improve both pregnancy outcomes and neonatal health.

Analysis of Influencing Risk Factors of Nonsyndromic Unilateral Cleft Lip in South Sulawesi

Abstract Objective This study is to determine the most dominant risk factors for the potential occurrence of nonsyndromic unilateral cleft lip in South Sulawesi, Indonesia. Materials and Methods This is a retrospective study of several hospitals in South Sulawesi, Indonesia. An analysis was performed on the medical records of patients with nonsyndromic unilateral clefts. In the period from January 2018 to December 2022, risk factors include gender, parental education, family history of cleft lip and palate, maternal history of smoking or exposure to secondhand smoke, and consumption of drugs and alcohol during gestational age. The size of the sample is determined using the cluster sampling technique. Statistics uses chi-square test analysis and logistic regression for nominal variables. It uses SPSS Statistics version 25, with a value of p &lt; 0.05. Results The highest risk factor was found in patients with parents with a history of alcohol consumption during pregnancy and in patients with family history of cleft lip and palate, history of smoking or exposure to cigarette smoke, history of drug consumption, and gender. In comparison, parents' education level does not have a significant influence. Conclusion History of alcohol consumption during pregnancy, family history of cleft lip and palate, history of smoking or exposure to cigarette smoke, history of drug consumption, and gender are considered risk factors for nonsyndromic unilateral cleft lip in South Sulawesi, Indonesia.

Mapping domains of early life determinants of future multimorbidity across three UK longitudinal cohort studies

Many studies use a reductionist approach to isolate the influence of one factor in childhood on multimorbidity rather than consider the combined effect of wider determinants. We explored how potential multiple early life determinants of multimorbidity can be characterised across three UK cohort studies. We used the National Child Development Study (NCDS), the 1970 British Cohort Study (BCS70), and the Aberdeen Children of the 1950s Study (ACONF) to identified early life variables that fit into 12 conceptualised domains of early life determinants of multimorbidity. Variables were assigned into 12 domains; principal component analysis reduced the dimensionality of the data and structured variables into subgroups. The data audit identified 7 domains in ACONF, 10 domains in NCDS and 12 domains in BCS70. Dominant components included maternal fertility histories within the prenatal, antenatal and birth domain, long-term illnesses within the child health domain, educational ability within the child education and health literacy domain, ethnicity within the demography domain, parental health behaviours within the transgenerational domain, housing within the socioeconomic domain and parental-child interactions within the parental-family domain. We demonstrated that if multiple large scale longitudinal studies are used, there is enough data available for researchers to consider conceptualising early life risk factors of multimorbidity across groups or domains. Such conceptualisation can help challenge the existing understanding of disease aetiology and develop new ideas for prevention of multimorbidity.

Comparing Methods for Missing Paternal Linkages in Administrative Data

ObjectiveAdministrative data often lacks complete family linkages, particularly to fathers, hindering familial health research. We compared methods to address missing paternal linkages in research investigating the familial transfer of mental disorders. ApproachA population-based cohort study of Manitoba (Canada) born adults, +18 years old between 1977 and 2017 with maternal linkages. Three methods were used to address missing paternal linkages: indicator category, complete case, and multiple imputation, which identified three candidate fathers for each individual within -4 to +7 years of mother’s age with same postal code. For each method, the association of maternal and paternal history with mental disorder risk during follow-up was tested using multivariable logistic regression models adjusted for demographics and comorbidities. ResultsThe cohort included 142,549 individuals; 22.6% lacked paternal linkages. Using indicator category, maternal and paternal histories were associated with mental disorder risk, with odds ratio (OR) 1.49, 95% confidence interval (CI): 1.45-1.52 and OR 1.34, 95% CI: 1.30-1.37, respectively. Similar results were obtained in the complete case analysis (OR 1.49, 95% CI: 1.45-1.53 and OR 1.33, 95% CI: 1.30-1.37, for maternal and paternal history, respectively). With multiple imputation, maternal history’s association with mental disorder risk remained consistent with the other methods (pooled OR 1.52, 95% CI: 1.49-1.56); paternal history was associated with a smaller risk (pooled OR 1.25 95% CI: 1.22-1.29). Conclusions and ImplicationsThe three methods for addressing missing paternal linkages produced similar findings about the familial transfer of mental disorders. Future familial studies could incorporate multiple methods to demonstrate robustness of findings.

Mapping domains of early-life determinants of future multimorbidity across three UK longitudinal cohort studies.

ObjectivesMany studies use a reductionist approach to isolate the influence of one factor in childhood on multimorbidity rather than consider the combined effect of wider determinants. We aimed to explore how potential multiple early-life determinants of multimorbidity can be audited and characterised across three UK cohort studies. ApproachWe used the 1958 National Child Development Study (NCDS), the 1970 British Cohort Study (BCS70), and the Aberdeen Children of the 1950s Study (ACONF) to identify and categorise early-life variables that fit into 12 previously conceptualised domains of early-life determinants of multimorbidity. A data audit manually assigned variables into the domain they best represented. Principal component analysis (PCA) reduced the dimensionality of the data and structured variables into subgroups. Important PCA components defined as the component that contributed the greatest proportion of the overall variance were identified. ResultsSeven domains were characterised by 74 variables in ACONF, ten domains by 143 variables in the NCDS, and twelve domains by 289 variables in the BCS70. PCA analysis reduced the dimensionality of ACONF variables from 74 to 41, from 143 to 73 in the NCDS, and from 289 to 149 in the BCS70. Important PCA components included maternal fertility histories, long-term illnesses, educational ability, ethnicity, housing status and parental-child interactions. Conclusions and ImplicationsConceptualising the risk of future multimorbidity as lifecourse domains composed of multiple factors can help challenge the existing understanding of disease aetiology and inform strategies for the prevention of multimorbidity.

The Long-Term Associations of Perinatal Obesogenic Environment with Offspring Biological Aging.

Biological age (BA), reflecting aging-related health decline beyond chronological age, varies among individuals. While previous research explored associations of maternal pregnancy-related body size with offspring health outcomes, its implications for BA in young adults remain unclear. Utilizing longitudinal data of 1,148 mother-offspring pairs from the Jerusalem Perinatal Study, we analyzed associations of maternal pre-pregnancy BMI and gestational weight gain (GWG) with offspring Klemera-Doubal method (KDM)-based BA at age 32, and potential familial life-course underlying mechanisms. Maternal pregnancy-related body size, adjusted for sociodemographic/lifestyle factors was associated with offspring BA (βmaternal pre-pregnancy BMI=0.183,95%CI:0.098,0.267;βGWG=0.093,95%CI:0.021,0.165). Association of GWG with BA was largely direct (90%,95%CI,44%,100%), while association with maternal pre-pregnancy BMI was partially mediated through adolescent BMI (36%,95%CI=18%,75%), with both associations eliminated after adjustment for offspring adult BMI. Associations persisted after adjusting for offspring polygenic risk score for BMI (βmaternal pre-pregnancy BMI=0.128;95%CI=0.023,0.234; βGWG=0.102;95%CI=0.006,0.198), and somewhat altered after adjustment for maternal cardiometabolic conditions (βmaternal pre-pregnancy BMI=0.144,95%CI=0.059, 0.230). Impact on GWG associations was negligible. Thus, perinatal obesogenic environment contributes to offspring BA beyond sociodemographic factors and maternal cardiometabolic history, yet intergenerational transmission of obesity seems to underlie these associations. Nonetheless, the period between adolescence and young adulthood could be targeted for weight-reducing interventions, ultimately promoting healthy aging.

Exploring first-degree family history in a cohort of Portuguese Alzheimer’s disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors

BackgroundAlzheimer’s disease (AD) heritability is estimated to be around 70–80%. Yet, much of it remains to be explained. Studying transmission patterns may help in understanding other factors contributing to the development of AD.ObjectiveIn this study, we aimed to search for evidence of autosomal recessive or X- and Y-linked inheritance of risk factors in a large cohort of Portuguese AD patients.MethodsWe collected family history from patients with AD and cognitively healthy controls over 75 years of age. We compared the proportions of maternal and paternal history in male and female patients and controls (to search for evidence of X-linked and Y-linked inherited risk factors). We compared the risk of developing AD depending on parents’ birthplace (same vs. different), as a proxy of remote consanguinity. We performed linear regressions to study the association of these variables with different endophenotypes.ResultsWe included 3090 participants, 2183 cognitively healthy controls and 907 patients with AD. Men whose mother had dementia have increased odds of developing AD comparing to women whose mother had dementia. In female patients with a CSF biomarker-supported diagnosis of AD, paternal history of dementia is associated with increased CSF phosphorylated Tau levels. People whose parents are from the same town have higher risk of dementia. In multivariate analysis, this proxy is associated with a lower age of onset and higher CSF phosphorylated tau.ConclusionsOur study gives evidence supporting an increased risk of developing AD associated with an X-linked inheritance pattern and remote consanguinity.

The Quartile Levels of Thyroid-stimulating Hormone at Newborn Screening Stratified Risks of Neurodevelopmental Impairment in Extremely Preterm Infants: A Population Cohort Study.

To evaluate whether thyroid-stimulating hormone (TSH) measured during newborn screening (NBS) at birth and at discharge can be surrogate markers for neurodevelopmental impairment (NDI) in extremely preterm infants. The population cohort enrolled infants born <29 weeks' gestation in 2008-2020 in southern Taiwan. Infants with a maternal history of thyroid disorders and infants who required thyroxine supplementation during hospitalization were excluded. TSH levels measured during NBS at birth and at term-equivalent age (TEA)/discharge were respectively categorized into the lowest quartile, the interquartile range, and the highest quartile, which were correlated to NDI outcomes. Among 392 patients with paired TSH data, 358 (91%) were prospectively followed until a corrected age of 24 months. At birth, infants with lowest-quartile TSH had higher NDI risks (odds ratio [OR] 2.3; 95% confidence interval [CI], 1.3-4.1, P = 0.004) compared to infants with interquartile-range TSH. Conversely, by TEA/discharge, infants with highest-quartile TSH had increased NDI (OR 1.9; 95% CI, 1.0-3.4, P = 0.03). By paired TSH categories, infants persistently in the lowest TSH quartile (48%; aOR 4.4; 95% CI, 1.4-14.5, P = 0.01) and those with a shift from interquartile range to the highest quartile (32%; aOR 2.7; 95% CI, 1.0-7.4, P = 0.046) had increased NDI risks compared with the reference with consistent interquartile-range TSH. Extremely preterm infants persistently in the lowest-quartile TSH level at birth and at discharge had the highest NDI risk. TSH quartile levels measured during NBS may serve as a population surrogate biomarker for assessing NDI risks in infants born extremely preterm.

Neolithic to Bronze Age human maternal genetic history in Yunnan, China

Yunnan in southwest China is a geographically and ethnically complex region at the intersection of southern China and Southeast Asia, and a focal point for human migrations. To clarify its maternal genetic history, we generated 152 complete mitogenomes from 17 Yunnan archaeological sites. Our results reveal distinct genetic histories segregated by geographical regions. Maternal lineages of ancient populations from northwestern and northern Yunnan exhibit closer affinities with past and present-day populations from northern East Asia and Tibet, providing important genetic evidence for the migration and interaction of populations along the Tibetan-Yi corridor since the Neolithic. Between 5500 and 1800 years ago, central Yunnan populations maintained their internal genetic relationships, including a 7000-year-old basal lineage of the rare and widely dispersed haplogroup M61. At the Xingyi site, changes in mitochondrial DNA haplogroup occurred between the Late Neolithic and Bronze Age, with haplogroup shifting from those predominant in the Yellow River region to those predominant in coastal southern China. These results highlight the high diversity of Yunnan populations during the Neolithic to Bronze Age.