Search

Author(s): Ji Hyun Kim [sup.1] [sup.2] , Juyoung Lee [sup.3] , Dong Hyun Kim [sup.3] , Ji Young Park [sup.4] , Hyunju Lee [sup.1] [sup.2] , Hee Gyung Kang [sup.2] [...], Background This study aimed to investigate the risk factors for community-acquired urinary tract infection (UTI) caused by extended-spectrum beta-lactamase (ESBL)-positive bacteria in infants. Methods We retrospectively reviewed the medical records of infants aged < 1 year with first UTI from 2018 to 2019 at two tertiary centers in Korea. Data analyzed included clinical findings, birth history, delivery mode, milk type, use of postpartum care center, and previous use of antibiotics both in the patient and mother. Results Of 265 patients, 62 (23.4%) were diagnosed with first UTI caused by ESBL-positive bacteria at the median age of 3.6 (interquartile range (IQR) 2.3-5.4) months. Maternal use of antibiotics during pregnancy (29.0 vs. 10.3%, p < 0.001) and Klebsiella species (19.4% vs. 4.9%, p < 0.001) were significantly associated with ESBL-positive UTIs and remained valid in the multivariate analysis (odds ratio [OR], 3.40; 95% confidence interval [CI] 1.61-7.19, p = 0.001, and OR 5.26; 95% CI 2.03-13.13, p = 0.001, respectively). Previous antibiotic exposure of patients, previous hospitalization, prematurity, delivery mode, milk type, and use of postpartum care center were not significantly different between ESBL-positive and ESBL-negative groups. With respect to the clinical course of UTI, the ESBL-positive group presented a higher number of blood leukocytes (p = 0.041) and longer hospital stay (p < 0.001) than the ESBL-negative group. Conclusions About one-fourth of infantile UTI cases were ESBL-positive. Prenatal antibiotic exposure of mothers and Klebsiella species were associated with community-acquired UTI caused by ESBL-positive bacteria. Graphical abstract

This corrects the article DOI: 10.1038/sdata.2017.179.

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of hypertension and its complications, they have been underrepresented in genetic studies. To identify novel susceptibility loci for blood pressure and hypertension in people of African ancestry, we performed both single and multiple-trait genome-wide association analyses. We analyzed 21 genome-wide association studies comprised of 31,968 individuals of African ancestry, and validated our results with additional 54,395 individuals from multi-ethnic studies. These analyses identified nine loci with eleven independent variants which reached genome-wide significance (P < 1.25×10-8) for either systolic and diastolic blood pressure, hypertension, or for combined traits. Single-trait analyses identified two loci (TARID/TCF21 and LLPH/TMBIM4) and multiple-trait analyses identified one novel locus (FRMD3) for blood pressure. At these three loci, as well as at GRP20/CDH17, associated variants had alleles common only in African-ancestry populations. Functional annotation showed enrichment for genes expressed in immune and kidney cells, as well as in heart and vascular cells/tissues. Experiments driven by these findings and using angiotensin-II induced hypertension in mice showed altered kidney mRNA expression of six genes, suggesting their potential role in hypertension. Our study provides new evidence for genes related to hypertension susceptibility, and the need to study African-ancestry populations in order to identify biologic factors contributing to hypertension.

BackgroundGenome-wide single marker and gene-based meta-analyses of long-term average (LTA) blood pressure (BP) phenotypes may reveal novel findings for BP.Methods and resultsWe conducted genome-wide analysis among 18 422 East Asian participants (stage 1) followed by replication study of ≤46 629 participants of European ancestry (stage 2). Significant single-nucleotide polymorphisms and genes were determined by a P

In this note we show that the strong spherical maximal function in \mathbb R^d is bounded on L^p if p>2(d+1)/(d-1) for d\ge 3. [ABSTRACT FROM AUTHOR]

Purpose: Pregnant women with diabetes mellitus (DM) and their babies are affected by complications and congenital abnormalities during pregnancy. This study aimed to examine the risk factors for cardiac anomalies and the characteristics of pregestational DM and GDM in mothers and babies in Korea. Methods: This retrospective study used medical records from Bucheon St. Mary's Hospital between January 2013 and July 2021. We studied 1983 infants, with 335 neonates from mothers with DM. Results: Body weight and body mass index were high in mothers with pregestational DM at delivery (p<0.005). The rate of preterm births was lower in the pregestational DM group than in the GDM group. Furthermore, the cardiac anomaly rate was high in the pregestational DM group (p<0.001). The rate of hyperbilirubinemia in the DM group was higher than that in the control group (p<0.001). Multivariate logistic regression analysis revealed no significant risk factors for congenital heart disease. Conclusion: DM in pregnant women is associated with congenital anomalies. Therefore, the appropriate management of mothers with DM is important for the prognosis of their neonates. [ABSTRACT FROM AUTHOR]

Sixty genetic loci associated with abdominal obesity, measured by waist circumference (WC) and waist-hip ratio (WHR), have been previously identified, primarily from studies conducted in European-ancestry populations. We conducted a meta-analysis of associations of abdominal obesity with approximately 2.5 million single nucleotide polymorphisms (SNPs) among 53,052 (for WC) and 48,312 (for WHR) individuals of Asian descent, and replicated 33 selected SNPs among 3,762 to 17,110 additional individuals. We identified four novel loci near the EFEMP1, ADAMTSL3 , CNPY2, and GNAS genes that were associated with WC after adjustment for body mass index (BMI); two loci near the NID2 and HLA-DRB5 genes associated with WHR after adjustment for BMI, and three loci near the CEP120, TSC22D2, and SLC22A2 genes associated with WC without adjustment for BMI. Functional enrichment analyses revealed enrichment of corticotropin-releasing hormone signaling, GNRH signaling, and/or CDK5 signaling pathways for those newly-identified loci. Our study provides additional insight on genetic contribution to abdominal obesity.

BackgroundRare variants have gathered increasing attention as a possible alternative source of missing heritability. Since next generation sequencing technology is not yet cost-effective for large-scale genomic studies, a widely used alternative approach is imputation. However, the imputation approach may be limited by the low accuracy of the imputed rare variants. To improve imputation accuracy of rare variants, various approaches have been suggested, including increasing the sample size of the reference panel, using sequencing data from study-specific samples (i.e., specific populations), and using local reference panels by genotyping or sequencing a subset of study samples. While these approaches mainly utilize reference panels, imputation accuracy of rare variants can also be increased by using exome chips containing rare variants. The exome chip contains 250 K rare variants selected from the discovered variants of about 12,000 sequenced samples. If exome chip data are available for previously genotyped samples, the combined approach using a genotype panel of merged data, including exome chips and SNP chips, should increase the imputation accuracy of rare variants.ResultsIn this study, we describe a combined imputation which uses both exome chip and SNP chip data simultaneously as a genotype panel. The effectiveness and performance of the combined approach was demonstrated using a reference panel of 848 samples constructed using exome sequencing data from the T2D-GENES consortium and 5,349 sample genotype panels consisting of an exome chip and SNP chip. As a result, the combined approach increased imputation quality up to 11 %, and genomic coverage for rare variants up to 117.7 % (MAF < 1 %), compared to imputation using the SNP chip alone. Also, we investigated the systematic effect of reference panels on imputation quality using five reference panels and three genotype panels. The best performing approach was the combination of the study specific reference panel and the genotype panel of combined data.ConclusionsOur study demonstrates that combined datasets, including SNP chips and exome chips, enhances both the imputation quality and genomic coverage of rare variants.

Human height is associated with risk of multiple diseases and is profoundly determined by an individual's genetic makeup and shows a high degree of ethnic heterogeneity. Large-scale genome-wide association (GWA) analyses of adult height in Europeans have identified nearly 180 genetic loci. A recent study showed high replicability of results from Europeans-based GWA studies in Asians; however, population-specific loci may exist due to distinct linkage disequilibrium patterns. We carried out a GWA meta-analysis in 93 926 individuals from East Asia. We identified 98 loci, including 17 novel and 81 previously reported loci, associated with height at P < 5 × 10(-8), together explaining 8.89% of phenotypic variance. Among the newly identified variants, 10 are commonly distributed (minor allele frequency, MAF > 5%) in Europeans, with comparable frequencies with in Asians, and 7 single-nucleotide polymorphisms are with low frequency (MAF < 5%) in Europeans. In addition, our data suggest that novel biological pathway such as the protein tyrosine phosphatase family is involved in regulation of height. The findings from this study considerably expand our knowledge of the genetic architecture of human height in Asians.

Recent genetic association studies have identified 55 genetic loci associated with obesity or body mass index (BMI). The vast majority, 51 loci, however, were identified in European-ancestry populations. We conducted a meta-analysis of associations between BMI and ∼2.5 million genotyped or imputed single nucleotide polymorphisms among 86 757 individuals of Asian ancestry, followed by in silico and de novo replication among 7488-47 352 additional Asian-ancestry individuals. We identified four novel BMI-associated loci near the KCNQ1 (rs2237892, P = 9.29 × 10(-13)), ALDH2/MYL2 (rs671, P = 3.40 × 10(-11); rs12229654, P = 4.56 × 10(-9)), ITIH4 (rs2535633, P = 1.77 × 10(-10)) and NT5C2 (rs11191580, P = 3.83 × 10(-8)) genes. The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women. Of the 51 BMI-associated loci initially identified in European-ancestry populations, we confirmed eight loci at the genome-wide significance level (P < 5.0 × 10(-8)) and an additional 14 at P < 1.0 × 10(-3) with the same direction of effect as reported previously. Findings from this analysis expand our knowledge of the genetic basis of obesity.

The aim of this study was to consider how we can invest in music-making to promote well-being in school contexts. Web-based data collection was conducted where researchers identified 17 case studies that describe successful music programs in schools in Australia. The researchers aligned content from these case studies into the five categories of the PERMA well-being model: Positive emotions, Engagement, Relationships, Meaning, and Accomplishment, in order to understand how each well-being element was realised through the music programs. The results indicate that the element of the PERMA well-being model that relates to relationships was described most often. Collaboration and partnership between students, teachers, and staff in schools, and local people in the community such as parents, local entrepreneurs, and musicians were repeatedly identified as a highly significant contributing factor in the success of the music program. The school leaders' roles in providing opportunities for students to experience musical participation and related activities (engagement) and valuing these experiences (meaning) were also crucial in the facilitation of the music programs. The findings of this study indicate that tailored music and relationship-centred music programs in schools not only increase skills and abilities of the students, but also improve the psychosocial well-being of the students and the community.

The COVID-19 pandemic ushered in widespread restrictions that impacted clinical and academic settings. These restrictions required music therapy educators to not only shift their teaching platform but to find methods to engage students in the continued development of their clinical practice skills through practicum experiences while clinical sites were closed. To provide alternative practicum experiences, three music therapy faculty at a major metropolitan private university offered Telehealth Practica (THP) for undergraduate and graduate students in the first year of the pandemic. Music therapy faculty facilitated individual or group sessions with 10 clients to provide ongoing practicum experiences for students over the course of two semesters. Twenty-two students participated in five focus group interviews to share their experiences of THP. Using a thematic analysis, 14 themes were identified, and through further latent analysis, five attributes of the THP model: accessibility, usefulness, uniqueness, limitation, and potential were developed. THP offered students a new and novel learning opportunity that is not experienced in traditional in-person practicum, and they identified this as a valuable and unique training option. THP experience highlighted the need to develop student competencies and skills related to the use of technology for telehealth delivery, as telehealth has become a new norm and will be one of the ways health professionals continue to provide services in the future. [ABSTRACT FROM AUTHOR]