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Heredity Jul 2024In this study, we address the mate selection problem in the hybridization stage of a breeding pipeline, which constitutes the multi-objective breeding goal key to the...
In this study, we address the mate selection problem in the hybridization stage of a breeding pipeline, which constitutes the multi-objective breeding goal key to the performance of a variety development program. The solution framework we formulate seeks to ensure that individuals with the most desirable genomic characteristics are selected to cross in order to maximize the likelihood of the inheritance of desirable genetic materials to the progeny. Unlike approaches that use phenotypic values for parental selection and evaluate individuals separately, we use a criterion that relies on the genetic architecture of traits and evaluates combinations of genomic information of the pairs of individuals. We introduce the expected cross value (ECV) criterion that measures the expected number of desirable alleles for gametes produced by pairs of individuals sampled from a population of potential parents. We use the ECV criterion to develop an integer linear programming formulation for the parental selection problem. The formulation is capable of controlling the inbreeding level between selected mates. We evaluate the approach or two applications: (i) improving multiple target traits simultaneously, and (ii) finding a multi-parental solution to design crossing blocks. We evaluate the performance of the ECV criterion using a simulation study. Finally, we discuss how the ECV criterion and the proposed integer linear programming techniques can be applied to improve breeding efficiency while maintaining genetic diversity in a breeding program.
PubMed: 38956397
DOI: 10.1038/s41437-024-00697-y -
Scientific Reports Jul 2024The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the...
The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the severity, whether in complexity or lethality, significantly influences parental decisions concerning abortion. However, questions remain as to how fetal heart disease severity impacts parental decisions, given recent advancements in postsurgical outcomes. Therefore, we investigated risk factors associated with parents' decision-making regarding abortion following a prenatal diagnosis of fetal heart disease. Our analysis included 73 (terminated: n = 37; continued: n = 36) pregnancies with a fetal heart disease diagnosed before 22 weeks of gestation. Increased gestational age at diagnosis reduced the likelihood of parents' decision on termination (Model 1: adjusted odds ratio, 0.94; 95% confidence interval 0.89-0.99; Model 2: 0.95 0.90-0.997). Critical disease (5.25; 1.09-25.19) and concurrent extracardiac or genetic abnormalities (Model 1: 4.19, 1.21-14.53; Model 2: 5.47, 1.50-19.96) increased the likelihood of choosing abortion. Notably, complex disease did not significantly influence parental decisions (0.56; 0.14-2.20). These results suggest that parental decision-making regarding abortion may be influenced by earlier gestational age at diagnosis, the lethality of heart disease, and extracardiac or genetic abnormalities, but not its complexity if prenatal diagnosis and parental counseling are provided at a cardiovascular-specialized facility.
Topics: Humans; Female; Pregnancy; Abortion, Induced; Decision Making; Adult; Parents; Prenatal Diagnosis; Gestational Age; Heart Defects, Congenital; Heart Diseases; Risk Factors; Fetal Diseases; Male; Severity of Illness Index
PubMed: 38956291
DOI: 10.1038/s41598-024-66027-8 -
Scientific Reports Jul 2024To describe the fetal death rate of birth defects (including a broad range of specific defects) and to explore the relationship between fetal deaths from birth defects...
To describe the fetal death rate of birth defects (including a broad range of specific defects) and to explore the relationship between fetal deaths from birth defects and a broad range of demographic characteristics. Data was derived from the birth defects surveillance system in Hunan Province, China, 2016-2020. Fetal death refers to the intrauterine death of a fetus at any time during the pregnancy, including medical termination of pregnancy. Fetal death rate is the number of fetal deaths per 100 births (including live births and fetal deaths) in a specified group (unit: %). The fetal death rate of birth defects with 95% confidence intervals (CI) was calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the relationship between each demographic characteristic and fetal deaths from birth defects. This study included 847,755 births, and 23,420 birth defects were identified. A total of 11,955 fetal deaths from birth defects were identified, with a fetal death rate of 51.05% (95% CI 50.13-51.96). 15.78% (1887 cases) of fetal deaths from birth defects were at a gestational age of < 20 weeks, 59.05% (7059 cases) were at a gestational age of 20-27 weeks, and 25.17% (3009 cases) were at a gestational age of ≥ 28 weeks. Fetal death rate of birth defects was higher in females than in males (OR = 1.25, 95% CI 1.18-1.32), in rural than in urban areas (OR = 1.43, 95% CI 1.36-1.50), in maternal age 20-24 years (OR = 1.35, 95% CI 1.25-1.47), and ≥ 35 years (OR = 1.19, 95% CI 1.11-1.29) compared to maternal age of 25-29 years, in diagnosed by chromosomal analysis than ultrasound (OR = 6.24, 95% CI 5.15-7.55), and lower in multiple births than in singletons (OR = 0.41, 95% CI 0.36-0.47). The fetal death rate of birth defects increased with the number of previous pregnancies (χ = 49.28, P < 0.01), and decreased with the number of previous deliveries (χ = 4318.91, P < 0.01). Many fetal deaths were associated with birth defects. We found several demographic characteristics associated with fetal deaths from birth defects, which may be related to the severity of the birth defects, economic and medical conditions, and parental attitudes toward birth defects.
Topics: Humans; China; Female; Congenital Abnormalities; Pregnancy; Adult; Fetal Death; Male; Gestational Age; Infant, Newborn; Young Adult; Maternal Age; Odds Ratio
PubMed: 38956101
DOI: 10.1038/s41598-024-65985-3 -
Nature Communications Jul 2024Strongly correlated materials respond sensitively to external perturbations such as strain, pressure, and doping. In the recently discovered superconducting...
Strongly correlated materials respond sensitively to external perturbations such as strain, pressure, and doping. In the recently discovered superconducting infinite-layer nickelates, the superconducting transition temperature can be enhanced via only ~ 1% compressive strain-tuning with the root of such enhancement still being elusive. Using resonant inelastic x-ray scattering (RIXS), we investigate the magnetic excitations in infinite-layer PrNiO thin films grown on two different substrates, namely SrTiO (STO) and (LaAlO)(SrTaAlO) (LSAT) enforcing different strain on the nickelates films. The magnon bandwidth of PrNiO shows only marginal response to strain-tuning, in sharp contrast to the enhancement of the superconducting transition temperature T in the doped superconducting samples. These results suggest the bandwidth of spin excitations of the parent compounds is similar under strain while T in the doped ones is not, and thus provide important empirics for the understanding of superconductivity in infinite-layer nickelates.
PubMed: 38956078
DOI: 10.1038/s41467-024-49940-4 -
Metabolomics : Official Journal of the... Jul 2024Congenital heart disease (CHD) is the most common congenital anomaly, representing a significant global disease burden. Limitations exist in our understanding of... (Observational Study)
Observational Study
INTRODUCTION
Congenital heart disease (CHD) is the most common congenital anomaly, representing a significant global disease burden. Limitations exist in our understanding of aetiology, diagnostic methodology and screening, with metabolomics offering promise in addressing these.
OBJECTIVE
To evaluate maternal metabolomics and lipidomics in prediction and risk factor identification for childhood CHD.
METHODS
We performed an observational study in mothers of children with CHD following pregnancy, using untargeted plasma metabolomics and lipidomics by ultrahigh performance liquid chromatography-high resolution mass spectrometry (UHPLC-HRMS). 190 cases (157 mothers of children with structural CHD (sCHD); 33 mothers of children with genetic CHD (gCHD)) from the children OMACp cohort and 162 controls from the ALSPAC cohort were analysed. CHD diagnoses were stratified by severity and clinical classifications. Univariate, exploratory and supervised chemometric methods were used to identify metabolites and lipids distinguishing cases and controls, alongside predictive modelling.
RESULTS
499 metabolites and lipids were annotated and used to build PLS-DA and SO-CovSel-LDA predictive models to accurately distinguish sCHD and control groups. The best performing model had an sCHD test set mean accuracy of 94.74% (sCHD test group sensitivity 93.33%; specificity 96.00%) utilising only 11 analytes. Similar test performances were seen for gCHD. Across best performing models, 37 analytes contributed to performance including amino acids, lipids, and nucleotides.
CONCLUSIONS
Here, maternal metabolomic and lipidomic analysis has facilitated the development of sensitive risk prediction models classifying mothers of children with CHD. Metabolites and lipids identified offer promise for maternal risk factor profiling, and understanding of CHD pathogenesis in the future.
Topics: Humans; Heart Defects, Congenital; Female; Metabolomics; Mothers; Lipidomics; Adult; Child; Lipids; Chromatography, High Pressure Liquid; Metabolome; Male; Pregnancy; Mass Spectrometry
PubMed: 38955892
DOI: 10.1007/s11306-024-02129-8 -
Clinical Pharmacology and Therapeutics Jul 2024The expression of cytochrome P450 (CYP) enzymes is highly variable and associated with factors, such as age, genotype, sex, and disease states. In this study,...
The expression of cytochrome P450 (CYP) enzymes is highly variable and associated with factors, such as age, genotype, sex, and disease states. In this study, quantification of metronidazole metabolizing CYP isoforms (CYP2A6, CYP2E1, CYP3A4, CYP3A5, and CYP3A7) in human liver microsomes from 115 children and 35 adults was performed using a quantitative proteomics method. The data confirmed age-dependent increase in CYP2A6, CYP2E1, and CYP3A4 abundance, whereas, as expected, CYP3A7 abundance showed postnatal decrease with age. In particular, the fold difference (neonatal to adulthood levels) in the protein abundance of CYP2A6, CYP2E1, and CYP3A4 was 14, 11, and 20, respectively. In contrast, protein abundance of CYP3A7 was > 125-fold higher in the liver microsomes of neonates than of adults. The abundance of CYP2A6 and CYP3A5 was associated with genotypes, rs4803381 and rs776746, respectively. A proteomics-informed physiologically based pharmacokinetic (PBPK) model was developed to describe the pharmacokinetics of metronidazole and its primary metabolite, 2-hydroxymethylmetronidazole. The model revealed an increase in the metabolite-to-parent ratio with age and showed a strong correlation between CYP2A6 abundance and metabolite formation (r = 0.75). Notably, the estimated contribution of CYP3A7 was ~ 75% in metronidazole clearance in neonates. These data suggest that variability in CYP2A6 and CYP3A7 in younger children poses the risk of variable pharmacokinetics of metronidazole and its active metabolite with a potential impact on drug efficacy and safety. No sex-dependent difference was observed in the protein abundance of the studied CYPs. The successful integration of hepatic CYP ontogeny data derived from a large liver bank into the pediatric PBPK model of metronidazole can be extended to other drugs metabolized by the studied CYPs.
PubMed: 38955794
DOI: 10.1002/cpt.3354 -
East Asian Archives of Psychiatry :... Dec 2023Asthma is a common respiratory disease in children. Family factors play a role in its incidence and severity. This study investigated the effect of parental...
BACKGROUND
Asthma is a common respiratory disease in children. Family factors play a role in its incidence and severity. This study investigated the effect of parental psychological flexibility, parental psychological adjustment to the child's illness, and parental psychological distress on the severity of asthma symptoms of children through mediating child anxiety.
METHODS
A total of 216 parents of children with asthma were asked to complete the Acceptance and Action Questionnaire, the Parent Experience of Child Illness, the Depression, Anxiety and Stress Scale - 21 Items, and the parent-report Spence Children's Anxiety Scale. Severity of asthma symptoms was assessed by spirometry.
RESULTS
The highest path coefficient was between parental psychological flexibility and the severity of paediatric asthma symptoms (β = 0.34). Parental psychological distress was found to affect the severity of asthma symptoms of children (β = -0.21) and also mediate child anxiety and then affect the severity of asthma symptoms of children (β = -0.25).
CONCLUSION
Parental psychological flexibility, parental psychological adjustment to the child's illness, and parental psychological distress had significant effects on the severity of asthma symptoms of children through mediating child anxiety.
Topics: Humans; Asthma; Child; Male; Female; Parents; Anxiety; Adaptation, Psychological; Adult; Models, Psychological; Severity of Illness Index; Stress, Psychological; Parent-Child Relations; Surveys and Questionnaires; Psychological Distress; Child, Preschool; Adolescent
PubMed: 38955782
DOI: 10.12809/eaap2336 -
Zhonghua Yu Fang Yi Xue Za Zhi [Chinese... Jun 2024To evaluate the modification of allergic dermatitis on the association between PM exposure and allergic rhinitis in preschool children. This cross-sectional study was...
To evaluate the modification of allergic dermatitis on the association between PM exposure and allergic rhinitis in preschool children. This cross-sectional study was based on a questionnaire conducted between June 2019 and June 2020 to caregivers of children aged 3 to 6 years in the kindergartens of 7 Chinese cities to collect information on allergic rhinitis and allergic dermatitis. A mature machine learning-based space-time extremely randomized trees model was applied to estimate early-life, prenatal, and first-year exposure of PM, PM and PM at 1 km×1 km resolution. A combination of multilevel logistic regression and restricted cubic spline functions was used to quantitatively assess whether allergic dermatitis modifies the associations between size-specific PM exposure and the risk of childhood allergic rhinitis. The results showed that out of 28 408 children, 14 803 (52.1%) were boys and 13 605 (47.9%) were girls; the age of children ranged from 3.1 to 6.8 years, with a mean age of (4.9±0.9) years, of which 3 586 (12.6%) were diagnosed with allergic rhinitis. Among all children, 17 832 (62.8%) were breastfed for more than 6 months and 769 (2.7%) had parental history of atopy. A total of 21 548 children (75.9%) had a mother with an educational level of university or above and 7 338 (29.6%) had passive household cigarette smoke exposure. The adjusted s for childhood allergic rhinitis among the children with allergic dermatitis as per interquartile range (IQR) increase in early-life PM(9.8 μg/m), PM (14.9 μg/m) and PM (37.7 μg/m) were significantly higher than the corresponding s among the children without allergic dermatitis [: 1.45, 95% (1.26, 1.66) 1.33, 95% (1.20, 1.47), for PM; : 1.38, 95% (1.23, 1.56) 1.32, 95% (1.21, 1.45), for PM; : 1.56, 95% (1.31, 1.86) 1.46, 95% (1.28, 1.67), for PM]. The interactions between allergic dermatitis and size-specific PM exposure on childhood allergic rhinitis were statistically significant ( value=19.4, all for interaction<0.001). The similar patterns were observed for both prenatal and first-year size-specific PM exposure and the results of the dose-response relationship were consistent with those of the logistic regression. In conclusion, allergic dermatitis, as an important part of the allergic disease progression, may modify the association between ambient PM exposure and the risk of childhood allergic rhinitis. Children with allergic dermatitis should pay more attention to minimize outdoor air pollutants exposure to prevent the further progression of allergic diseases.
Topics: Humans; Particulate Matter; Child, Preschool; Rhinitis, Allergic; Female; Cross-Sectional Studies; Dermatitis, Atopic; China; Male; Environmental Exposure; Child; Air Pollutants; Particle Size; Air Pollution; Risk Factors; Logistic Models
PubMed: 38955730
DOI: 10.3760/cma.j.cn112150-20230915-00192 -
Journal of Clinical Lipidology Mar 2024In Slovakia, a mandatory national universal pediatric total cholesterol (TC) screening program is in place to identify cases of familial hypercholesterolemia (FH)....
BACKGROUND
In Slovakia, a mandatory national universal pediatric total cholesterol (TC) screening program is in place to identify cases of familial hypercholesterolemia (FH). However, the program's effectiveness has not been systematically assessed.
OBJECTIVE
This study aimed to estimate the prevalence of FH among parents of children that had elevated TC levels identified during screening.
METHODS
This prospective, non-interventional, observational study enrolled parents of 11-year-old children who underwent TC screening in 23 selected pediatric outpatient clinics between 2017 and 2018. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and targeted next-generation sequencing. The primary objective was to estimate the proportion of children with a TC level of >188 mg/dL (>4.85 mmol/L) who had a parent with a confirmed diagnosis of FH.
RESULTS
A total of 112 parents of 56 children with an elevated TC level were enrolled. Five children (8.9%) had a parent in whom FH was genetically confirmed. Without genetic analysis, all five parents would only be diagnosed with "possible FH" by DLCN criteria. Of parents, 83.9% (n = 94/112) had an LDL-C level of >116 mg/dL (>3 mmol/L), but only 5.3% (n = 5/94) received lipid-lowering therapy. Among the five parents with genetically confirmed FH, all had an LDL-C level >116 mg/dL (>3 mmol/L), with a mean (±SD) of 191 (±24) mg/dL (4.94 [±0.61] mmol/L). Only two of these parents received lipid-lowering therapy.
CONCLUSIONS
The present study demonstrates the significance of mandatory universal pediatric TC screening in identifying families with FH and other at-risk families in need of lipid-lowering therapy.
PubMed: 38955586
DOI: 10.1016/j.jacl.2024.03.009 -
Sleep Health Jul 2024African American children are documented as having poor sleep health due to shorter sleep duration, sleep timing, and sleep behaviors compared to White peers,...
OBJECTIVES
African American children are documented as having poor sleep health due to shorter sleep duration, sleep timing, and sleep behaviors compared to White peers, contributing to child health disparities. Identifying cultural-environmental, and societal factors impacting a child's sleep among African American families is essential for developing interventions for this population. This study evaluated holistically why African American children may have poorer sleep health by examining sleep duration, timing, and behaviors. This was assessed by examining sleep-related beliefs, barriers, and facilitators to sleep schedules and routines. We also explored parental ideas for a sleep intervention.
METHODS
African American mothers of preschool-aged children (2-5years) were recruited using local partnerships and social media. Individual semistructured interviews were conducted by phone. Interviews were transcribed, coded, and analyzed thematically using grounded-theory.
RESULTS
Eighteen African American mothers completed the study. Five themes related to sleep emerged: The importance of adequate nighttime sleep, the influence of family and friends on parental sleep practices, the relationship between environmental and home dynamics on child sleep duration, the impact of acute and chronic societal-level stressors on family sleep health, and considerations for culturally tailored interventions to improve child sleep health.
CONCLUSIONS
Good sleep health was important among African American mothers. Cultural-environmental and societal factors significantly impact children's sleep health. Clinicians and researchers should be aware of financial resources and home dynamics leading to challenges with adequate sleep health when developing or adapting sleep interventions. Identifying cultural-environmental, and societal factors must be considered for targeted efforts to improve sleep health in African American children.
PubMed: 38955582
DOI: 10.1016/j.sleh.2024.03.007