A composite score combining waist circumference and body mass index more accurately predicts body fat percentage in 6- to 13-year-old children

Purpose: Body mass index (BMI) and waist circumference (WC) are widely used to predict % body fat (BF) and classify degrees of pediatric adiposity. However, both measures have limitations. The aim of this study was to evaluate whether a combination of WC and BMI would more accurately predict %BF than either alone. Methods: In a nationally representative sample of 2,303 6- to 13-year-old Swiss children, weight, height, and WC were measured, and %BF was determined from multiple skinfold thicknesses. Regression and receiver operating characteristic (ROC) curves were used to evaluate the combination of WC and BMI in predicting %BF against WC or BMI alone. An optimized composite score (CS) was generated. Results: A quadratic polynomial combination of WC and BMI led to a better prediction of %BF (r 2=0.68) compared with the two measures alone (r 2=0.58-0.62). The areas under the ROC curve for the CS [0.6*WC-SDS+0.4*BMI-SDS] ranged from 0.962±0.0053 (overweight girls) to 0.982±0.0046 (obese boys) and were somewhat greater than the AUCs for either BMI or WC alone. At a given specificity, the sensitivity of the prediction of overweight and obesity based on the CS was higher than that based on either WC or BMI alone, although the improvement was small. Conclusion: Both BMI and WC are good predictors of %BF in primary school children. However, a composite score incorporating both measures increased sensitivity at a constant specificity as compared to the individual measures. It may therefore be a useful tool for clinical and epidemiological studies of pediatric adiposit

Care Home Research : Future Challenges and Opportunities

Funding: This research was funded by Tennovus Scotland Research Project No. G16-08 and NHS-Grampian Research and Development Endowment Research Grants Project No: 16/11/043 and Scottish Government as part of the Strategic Research Programme at the Rowett Institute (award 1st April 2016–31st March 2021). Acknowledgments: Achieving the Age-GB study aims is a team effort and the authors gratefully acknowledge the efforts from Grant holders, colleagues & students: Phyo Myint, Karen Scott, Jenny Martin, Roy Soiza, Emma Law, Sandra Mann, Eunice Morgan, Claire Fyfe, Nicola Smith, Mitrysha Kishor.Peer reviewedPublisher PD

A Bose-Einstein Approach to the Random Partitioning of an Integer

Consider N equally-spaced points on a circle of circumference N. Choose at random n points out of $N$ on this circle and append clockwise an arc of integral length k to each such point. The resulting random set is made of a random number of connected components. Questions such as the evaluation of the probability of random covering and parking configurations, number and length of the gaps are addressed. They are the discrete versions of similar problems raised in the continuum. For each value of k, asymptotic results are presented when n,N both go to infinity according to two different regimes. This model may equivalently be viewed as a random partitioning problem of N items into n recipients. A grand-canonical balls in boxes approach is also supplied, giving some insight into the multiplicities of the box filling amounts or spacings. The latter model is a k-nearest neighbor random graph with N vertices and kn edges. We shall also briefly consider the covering problem in the context of a random graph model with N vertices and n (out-degree 1) edges whose endpoints are no more bound to be neighbors

DNA methylation in human gastric epithelial cells defines regional identity without restricting lineage plasticity

BACKGROUND: Epigenetic modifications in mammalian DNA are commonly manifested by DNA methylation. In the stomach, altered DNA methylation patterns have been observed following chronic Helicobacter pylori infections and in gastric cancer. In the context of epigenetic regulation, the regional nature of the stomach has been rarely considered in detail. RESULTS: Here, we establish gastric mucosa derived primary cell cultures as a reliable source of native human epithelium. We describe the DNA methylation landscape across the phenotypically different regions of the healthy human stomach, i.e., antrum, corpus, fundus together with the corresponding transcriptomes. We show that stable regional DNA methylation differences translate to a limited extent into regulation of the transcriptomic phenotype, indicating a largely permissive epigenetic regulation. We identify a small number of transcription factors with novel region-specific activity and likely epigenetic impact in the stomach, including GATA4, IRX5, IRX2, PDX1 and CDX2. Detailed analysis of the Wnt pathway reveals differential regulation along the craniocaudal axis, which involves non-canonical Wnt signaling in determining cell fate in the proximal stomach. By extending our analysis to pre-neoplastic lesions and gastric cancers, we conclude that epigenetic dysregulation characterizes intestinal metaplasia as a founding basis for functional changes in gastric cancer. We present insights into the dynamics of DNA methylation across anatomical regions of the healthy stomach and patterns of its change in disease. Finally, our study provides a well-defined resource of regional stomach transcription and epigenetics. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13148-022-01406-4

The relationship of parental education and the severity of fears

Research on the psychological characteristics of fears at different age stages of childhood is relevant, because it is fears that justify a number of psychological problems of preschoolers, including developmental disorders. The study of the features of the emotional sphere and its correction are unattainable without a clear understanding of the role of the family in the formation of the negative state of the child. The article analyzes the results of the study of the features of the dominant fears and their level indicators in children of older preschool age who are brought up in families with different types of parental education. The study tested the hypothesis that the degree of severity of fears in older preschoolers is determined by the type of family education, namely: unfavorable characteristics of education increase the severity of fears of older preschoolers, and favorable ones reduce. The sample of subjects includes 66 children aged 6 to 6.5 years. Of these, 35 are boys and 31 are girls. The adult sample consisted of 84 parents aged 25 to 35 years. The following methods were used as research tools: “Fears in houses” by A. I. Zakharov and M. A. Panfilova to identify and clarify the prevailing types of fears; “Strategies for family education” by S. S. Stepanov, modified by I. I. Mahonina, aimed at analyzing the prevailing styles of education in the family. As a result, of the study, statistically significant differences were found in the indicators of the severity of types of fears in preschool children of different sexes, as well as in the types of parental education. The results of the study can be useful in the practice of family counseling, for the development of correctional and developmental programs aimed at overcoming fears in children and correcting the style of parenting.Исследования психологических особенностей страхов на разных возрастных этапах детского возраста актуальны, поскольку именно страхи обосновывают целый ряд психологических проблем дошкольников, включая нарушения развития. Изучение особенностей эмоциональной сферы и ее коррекция недостижимы без ясного понимания роли семьи в формировании негативного состояния ребенка. В статье анализируются результаты исследования особенностей проявления доминирующих страхов у детей старшего дошкольного возраста, воспитывающихся в семьях с разными типами родительского воспитания. В исследовании проверялась гипотеза о том, что у детей старшего дошкольного возраста выраженность страхов определяется типом семейного воспитания. Выборка испытуемых включает 46 детей в возрасте от 6 до 6,5 лет. Из них 35 мальчиков и 31 девочка. Взрослую выборку составили 84 родителя в возрасте от 25 до 35 лет. В качестве исследовательского инструментария использовались методики: «Страхи в домиках» А. И. Захарова и М. А. Панфиловой для выявления и уточнения преобладающих видов страхов; «Стратегии семейного воспитания» С. С. Степанова в модификации И. И. Махониной, направленная на анализ преобладающих стилей воспитания в семье. В результате проведенного исследования были обнаружены статистически значимые различия в показателях выраженности видов страхов у дошкольников разного пола, а также в типах родительского воспитания. Результаты исследования могут быть полезны в практике семейного консультирования, для разработки коррекционно-развивающих программ, направленных на преодоление страхов у детей и коррекцию стиля родительского воспитания

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eightythree genes were targeted by the two panels and exome sequencing. More than 99% of bases had a read depth of over 30x in the panels, whereas exome sequencing covered 94%. Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer. In the discovery set, 240 unique non-silent coding and canonic splice-site variants were identified in the panel genes, 7 of them putatively pathogenic (in ATM, BARD1, CHEK2, ERCC3, FANCL, FANCM, MSH2). The three approaches identified a similar number of variants in the shared genes. Exomes were more expensive than panels but provided additional data. In terms of cost and depth, panels are a suitable option for genetic diagnostics, although exomes also identify variants in non-targeted genes

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

Background The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas. Results We successfully identified the causal genetic variant for Snowflake¿s albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake¿s parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla. Conclusions In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost. Keywords: Gorilla; Albinism; Inbreeding; Genome; Conservatio

Cut Points and Diffusions in Random Environment

In this article we investigate the asymptotic behavior of a new class of multi-dimensional diffusions in random environment. We introduce cut times in the spirit of the work done by Bolthausen, Sznitman and Zeitouni, see [4], in the discrete setting providing a decoupling effect in the process. This allows us to take advantage of an ergodic structure to derive a strong law of large numbers with possibly vanishing limiting velocity and a central limit theorem under the quenched measure.Comment: 44 pages; accepted for publication in "Journal of Theoretical Probability

Tail probabilities of St. Petersburg sums, trimmed sums, and their limit

We provide exact asymptotics for the tail probabilities $\mathbb{P} \{S_{n,r} > x\}$ as $x \to \infty$, for fix $n$, where $S_{n,r}$ is the $r$-trimmed partial sum of i.i.d. St. Petersburg random variables. In particular, we prove that although the St. Petersburg distribution is only O-subexponential, the subexponential property almost holds. We also determine the exact tail behavior of the $r$-trimmed limits.Comment: 24 pages, 2 figure