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Conversion of Shockley partial dislocation pairs from unexpandable to expandable combinations has been considered possible during epitaxial growth. The step-flow model was proposed to explain the conversion, in which an unexpandable 30° C-core partial dislocation in the substrate changes into an expandable 30° Si-core partial dislocation in the epitaxial grown layer. We observed this conversion experimentally by a transmission electron microscope and confirmed the core-species change by high-angle annular dark-field scanning transmission electron microscopy. In addition, other unexpandable combinations of partial dislocations were examined for the possibility of converting to expandable. As a result, the unexpandable basal plane dislocations with a Burgers vector of ±(1/3)[ 11 2 ¯ 0 ] in the substrate were confirmed to be a necessary condition for forming expandable 30° Si-core partial dislocations after epitaxial growth that could expand single Shockley-type stacking faults and degrade reliability of 4H-SiC power devices. [ABSTRACT FROM AUTHOR]

Structural differences are investigated in partial dislocations that have considerably different threshold current densities for single Shockley-type stacking fault (1SSF) expansions in PiN diodes using transmission electron microscopy and scanning transmission electron microscopy as direct observation techniques. It has been found that when the threshold current density is relatively low, a triangular 1SSF, whose oblique and base sides were formed with a pair of Shockley partials, was found. On the other hand, when the threshold current density is relatively high, a similar-shaped triangular 1SSF, whose three sides were almost formed by a single dislocation of one of the Shockley partials, was found. In the latter case, a conversion point from a basal plane dislocation to a threading edge dislocation was also observed around the deepest part of the epilayer. The realistic model for the formation of the triangular 1SSFs has been proposed. [ABSTRACT FROM AUTHOR]

Growth hormone (GH) is an essential factor in enhancing the productivity of animals. In ruminants, L-aspartate (L-Asp) stimulates the secretion of GH; however, the effect of D-Asp on GH remains unknown. Here, we examined the effect of D-Asp on GH secretion in wethers. Blood GH, insulin, adrenaline, noradrenaline, non-esterified fatty acid (NEFA), and glucose concentrations were evaluated in response to the intravenous infusion of a high-dose (0.1 mmol/kg/min) of D-Asp for 20 min. Further, concentrations of these biomolecules were evaluated when a low-dose (0.05 mmol/kg/min) of D-Asp was continuously infused intravenously for 20 min. Finally, the direct effect of D-Asp on GH secretion was determined using cultured sections of the anterior pituitary tissue from wethers. Infusion of the high-dose of D-Asp markedly increased blood GH concentrations (P < 0.05), resulting in an increase in the area under the curve (AUC). Plasma GH concentrations and AUC also increased in response to infusion of a low D-Asp dose. Infusion of a high and low D-Asp dose caused a prolonged reduction in plasma insulin concentrations, and the AUC was lower (P < 0.05). Plasma NEFA concentrations gradually increased after the end of D-Asp infusion, with a low D-Asp dose infusion resulting in significantly higher concentrations at 90 min (P < 0.05). Plasma adrenaline, noradrenaline, and glucose concentrations did not show significant changes despite differences in the dose of D-Asp. Although D-Asp treatments stimulated GH secretion in the cultured sections of pituitary tissues, the effect was not significant. These results suggest that D-Asp stimulates the secretion of GH in wethers through not only a direct action on the pituitary gland but also through another pathway of GH stimulation., (© The Author(s) 2024. Published by Oxford University Press on behalf of the American Society of Animal Science. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Conotruncal heart defects are severe congenital malformations of the outflow tract, including truncus arteriosus (TA) and double-outlet right ventricle (DORV). TA is a severe congenital heart disease (CHD) in which the main arterial outflow tract of the heart fails to separate. We recently reported TMEM260 (NM&#95;017799.4), c.1617del (p.Trp539Cysfs*9), as a major cause of TA in the Japanese population (TMEM260 Keio-Tohoku variant) comparable to the prevalence of the 22q11.2 deletion syndrome, which accounts for 12%-35% of TA. However, no other major causes of TA have not been identified. Here, we report a family that included a TA patient and a DORV patient, harboring the compound heterozygous variants of TMEM260, a 7066-bp deletion encompassing exons 6-7 and c.1393C > T, p.(Gln465*). The allele frequency of the 7066-bp deletion was particularly high in the Japanese population (0.17%). Based on the allele frequency of this deletion and c.1617del (0.36%) in the Japanese population, TMEM260 variants might be associated with more than half of the Japanese patients with TA. This study showed that TMEM260 pathogenic variants might be the most common cause of TA in the Japanese population and could explain the wide spectrum of phenotypes associated with TMEM260-related CHD, including DORV, demonstrating the usefulness of genetic testing in Japanese patients with TA., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Farnesoid X receptor (FXR) regulates bile acid synthesis, lipid metabolism, and glucose homeostasis in metabolic organs. FXR-knockout (FXR-KO) mice lacking the last exon of the FXR gene develop normally and display no prenatal and early postnatal lethality, whereas human patients with mutations in the DNA-binding domain of the FXR gene develop severe hepatic dysfunction. In this study, we generated novel FXR-KO mice lacking the DNA-binding domain of the FXR gene using CRISPR-Cas9 technology and evaluated their phenotypes. Similar to the aforementioned FXR-KO mice, our novel mice showed elevated serum levels of total bile acids and total cholesterol. However, they were obviously short-lived, showing severe liver and renal pathologies at an early age. These results indicate that FXR, including its unknown isoforms, has more significant functions in multiple organs than previously reported. Thus, the novel FXR-KO mice could lead to a new aspect that requires reworking of previous knowledge of FXR in the liver and renal function., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Na + /Cl - cotransporter 2 (Ncc2 or Slc12a10) is a membrane transport protein that belongs to the electroneutral cation-chloride cotransporter family. The Slc12a10 gene ( slc12a10 ) is widely present in bony vertebrates but is deleted or pseudogenized in birds, some bony fishes, and most mammals. Slc12a10 is highly homologous to Ncc (Slc12a3 or Ncc1); however, there are only a few reports measuring the activity of Slc12a10. In this study, we focused on zebrafish Slc12a10.1 (zSlc12a10.1) and analyzed its activity using Xenopus oocyte electrophysiology. Analysis using Na + -selective microelectrodes showed that intracellular sodium activity ( a Na i ) in zSlc12a10.1 oocytes was significantly decreased in Na + - or Cl - -free medium and recovered when Na + or Cl - was readded to the medium. Similar analysis using a Cl - -selective microelectrode showed that intracellular chloride activity ( a Cl i ) in zSlc12a10.1 oocytes significantly decreased in Na + - or Cl - -free medium and recovered when Na + or Cl - was readded to the medium. When a similar experiment was performed with a voltage clamp, the membrane current did not change when a Na i of zSlc12a10.1 oocytes was decreased in Na + -free medium. Molecular phylogenetic and synteny analyses suggest that gene duplication between slc12a10.2 and slc12a10.3 in zebrafish is a relatively recent event, whereas gene duplication between slc12a10.1 and the ancestral gene of slc12a10.2 / slc12a10.3 occurred at least about 2 million years ago. slc12a10 deficiency was observed in species belonging to Ictaluridae, Salmoniformes, Osmeriformes, Batrachoididae, Syngnathiformes, Gobiesociformes, Labriformes, and Tetraodontiformes. These results indicate that zebrafish Slc12a10.1 is an electroneutral Na + /Cl - cotransporter and establish its evolutionary position among various teleost slc12a10 paralogs. NEW & NOTEWORTHY Na + /Cl - cotransporter 2 (Slc12a10; Ncc2) is a protein highly homologous to Ncc (Slc12a3; Ncc1); however, there are only a few reports measuring the activity of Slc12a10. Electrophysiological analysis of Xenopus oocytes expressing zebrafish Slc12a10.1 showed that Slc12a10.1 acts as an electroneutral Na + /Cl - cotransporter. This is the third report on the activity of Slc12a10, following previous reports on Slc12a10 in eels.

Introduction: This study aimed to determine the association between cumulative maternal physical activity level and their children's physical activity in early childhood. We also compared the influence of each maternal physical activity on children's physical activity in early childhood., Methods: We analyzed the data from 1,067 Japanese mother-child pairs. Maternal physical activity was assessed using the International Physical Activity Questionnaire. Cumulative physical activity level in mothers was computed based on the categories (low, moderate, and high) of physical activity from 5 time points (pre-pregnancy, during pregnancy, 1.5, 3.5, and 5.5 years postpartum). Children's physical activity level was measured at age 5.5 years using the WHO Health Behaviour School-aged Children questionnaire and defined as engaging in physical activity for at least 60 minutes per day for more than 5 days. Logistic regression analysis was used to determine the association between maternal and children's physical activity levels., Results: The results showed the positive association between cumulative maternal physical activity and children's physical activity level (P for trend < 0.001). Furthermore, maternal physical activity during pregnancy (P for trend = 0.031) and 5.5 years postpartum (P for trend < 0.001) was positively associated with children's physical activity., Conclusion: A positive association was observed between the cumulative maternal physical activity level and the physical activity level of their children at 5.5 years of age. Furthermore, maternal physical activity during pregnancy and at 5.5 years postpartum were positively associated with the level of children's physical activity.

Aims: This study aimed to investigate the association of maternal birth weight (MBW) with early and late gestational diabetes mellitus (GDM)., Methods: A total of 69318 pregnant Japanese women were included in this birth cohort study. The associations between maternal birth weight and early gestational diabetes mellitus (diagnosed at <24 gestational weeks) and late GDM (diagnosed at ≥24 gestational weeks) were investigated using a multinomial logistic regression model, with an maternal birth weight of 3000-3499 g as the reference category., Results: Lower maternal birth weight was associated with higher odds of developing early and late gestational diabetes mellitus (P < 0.0001 and P < 0.0001, respectively). The adjusted odds ratios (aORs) for early gestational diabetes mellitus in participants with a MBW of <2500 g and 2500-2999 g were 1.345 (95% confidence interval [CI]: 0.912-1.984) and 1.338 (95% CI: 1.098-1.629), respectively. The aORs for late gestational diabetes mellitus in participants with a MBW of <2500 g and 2500-2999 g were, 1.657 (95% CI: 1.298-2.115) and 1.218 (95% CI: 1.058-1.402), respectively., Conclusions: Regardless of the gestational age when gestational diabetes mellitus was diagnosed, a lower maternal birth weight was associated with an increased risk of gestational diabetes mellitus. Furthermore, the association of a MBW <2500 g with late gestational diabetes mellitus tended to be stronger than that with early gestational diabetes mellitus., (© 2024 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.)

Solute carrier family 26 (Slc26) is a family of anion exchangers with 11 members in mammals (named Slc26a1-a11). Here, we identified a novel member of the slc26 family, slc26a12, located in tandem with slc26a2 in the genomes of several vertebrate lineages. BLAST and synteny analyses of various jawed vertebrate genome databases revealed that slc26a12 is present in coelacanths, amphibians, reptiles, and birds but not in cartilaginous fishes, lungfish, mammals, or ray-finned fishes. In some avian and reptilian lineages such as owls, penguins, egrets, and ducks, and most turtles examined, slc26a12 was lost or pseudogenized. Phylogenetic analysis showed that Slc26a12 formed an independent branch with the other Slc26 members and Slc26a12, Slc26a1 and Slc26a2 formed a single branch, suggesting that these three members formed a subfamily in Slc26. In jawless fish, hagfish have two genes homologous to slc26a2 and slc26a12, whereas lamprey has a single gene homologous to slc26a2. African clawed frogs express slc26a12 in larval gills, skin, and fins. These results show that slc26a12 was present at least before the separation of lobe-finned fish and tetrapods; the name slc26a12 is appropriate because the gene duplication occurred in the distant past., (© 2024 The Author(s). Physiological Reports published by Wiley Periodicals LLC on behalf of The Physiological Society and the American Physiological Society.)

Objective The changes in the prevalence of acute meningitis during the coronavirus disease 2019 (COVID-19) pandemic remain unclear. This study aimed to compare the prevalence of acute meningitis before and during the COVID-19 pandemic in Japan. Methods We retrospectively reviewed the Japanese nationwide administrative medical payment system database, Diagnosis Procedure Combination (DPC), from 2016 to 2022. A total of 547 hospitals consistently and seamlessly offered DPC data during this period. The study period was divided into the following three periods: April 2016 to March 2018 (fiscal years 2016-2017), April 2018-March 2020 (2018-2019), and April 2020-March 2022 (2020-2021). Results Among the 28,161,806 patients hospitalized during the study period, 28,399 were hospitalized for acute meningitis: 16,678 for viral/aseptic type, 6,189 for bacterial type, 655 for fungal type, 429 for tuberculous, 2,310 for carcinomatous type, and 2,138 for other or unknown types of meningitis. A significant decrease during the pandemic was confirmed in viral (n=7,032, n=5,775, and n=3,871 in each period; p<0.0001) and bacterial meningitis (n=2,291, n=2,239, and n=1,659; p<0.0001) cases. Meanwhile, no decrease was observed in fungal meningitis (n=212, n=246, and n=197; p=0.056) or carcinomatous meningitis (n=781, n=795, and n=734; p=0.27). The decrease in the number of tuberculous meningitis cases was equivocal (n=166, n=146, and n=117; p=0.014). The decrease during the pandemic was more remarkable in younger populations aged <50 years than in older populations, both for viral and bacterial meningitis. Conclusion The number of hospitalized cases of acute meningitis clearly decreased during the COVID-19 pandemic, especially for viral and bacterial meningitis in younger populations aged <50 years.

Objective: The primary objective of this study was to investigate the parenting attitudes towards children with autism spectrum disorders in early childhood in Japan., Design: This study was a cohort study. The participants were enrolled from January 2011 to March 2014. We obtained the prevalence of autism spectrum disorders at 3 years of age, parenting attitudes and other factors from questionnaires. We divided the participants into two groups, an autism spectrum disorders group and a non-autism spectrum disorders group, and compared the parenting attitudes., Setting: This study used data from a Japanese birth cohort study: the Japan Environment and Children's Study, conducted across 15 regional centres in Japan., Participants: The full dataset of the Japan Environment and Children's Study comprised 104 059 records. We excluded 17 889 records because the answer for the autism spectrum disorders in the questionnaire was blank. As a result, we analysed the remaining 82 411 mother-child pairs., Main Outcome Measures: The primary outcome variable was parenting attitudes at 3.5 years of age, which was assessed using a questionnaire. We asked respondents 16 questions related to parenting attitudes, and they answered based on their behaviours. The independent variable was the prevalence of autism spectrum disorders at 3 years of age., Results: Of the 82 411 participants, the children with autism spectrum disorders at 3 years of age were 372 (0.45%). In most questions about parenting attitudes, the autism spectrum disorders group had unfavourable responses. The difference was particularly noticeable when the parents taught their children social discipline. Unfavourable parenting attitudes were 16.6% in the autism spectrum disorders group and 0.8% in the non-autism spectrum disorders group in the question item with the largest difference between the two groups, a significant difference., Conclusions: Parents of children with autism spectrum disorders tended to have unfavourable attitudes, suggesting the importance of parental training., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

The regressive evolution of independent lineages often results in convergent phenotypes. Several teleost groups display secondary loss of the stomach, and four gastric genes, atp4a, atp4b, pgc, and pga2 have been co-deleted in agastric (stomachless) fish. Analyses of genotypic convergence among agastric fishes showed that four genes, slc26a9, kcne2, cldn18a, and vsig1, were co-deleted or pseudogenized in most agastric fishes of the four major groups. kcne2 and vsig1 were also deleted or pseudogenized in the agastric monotreme echidna and platypus, respectively. In the stomachs of sticklebacks, these genes are expressed in gastric gland cells or surface epithelial cells. An ohnolog of cldn18 was retained in some agastric teleosts but exhibited an increased non-synonymous substitution when compared with gastric species. These results revealed novel convergent gene losses at multiple loci among the four major groups of agastric fish, as well as a single gene loss in the echidna and platypus., (© 2024. The Author(s).)

Congenital malformations are functional and structural alterations in embryonic or foetal development resulting from a variety of factors including maternal health status. This study aimed to investigate the association between maternal birth weight (MBW) and the prevalence of congenital malformations in offspring using data from a nationwide birth cohort study in Japan including 103,060 pregnancies. A binary logistic regression model with adjustment for various covariates revealed that an MBW of <2500 g (low MBW) was associated with an increased risk of congenital heart disease (adjusted odds ratio: 1.388, [95% confidence interval: 1.075-1.792]), angioma (1.491 [1.079-2.059]), and inguinal hernia (1.746, [1.189-2.565]), while those with an MBW of ≥4000 g (high MBW) were associated with congenital anomalies of the urinary tract (2.194, [1.261-3.819]) and arrhythmia (1.775, [1.157-2.725]) compared with those with an MBW of 3000-3499 g. Low MBW was associated with cleft lip and/or palate (1.473, [1.052-2.064]), congenital heart disease (1.615, [1.119-2.332]), genital organs (1.648, [1.130-2.405]), hypospadias (1.804, [1.130-2.881]), and inguinal hernia (1.484, [1.189-1.851]) in male infants and CAKUT (1.619, [1.154-2.273]) in female infants, whereas high MBW was associated with congenital heart disease (1.745, [1.058-2.877]) and CAKUT (2.470, [1.350-4.517]) in male infants. The present study is the first to demonstrate a link between MBW and congenital malformations in Japanese children. While these results must be interpreted with caution, MBW should be considered a major predictor of congenital malformation risk.