bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of ascorbic acid supplementation on pulmonary functions in healthy adults: a randomized controlled pilot study
Authors: Maharshi Vikas , Kumar Vijay L. , Sarangi Sudhir C. , Dutt Upadhyay Ashish , Kumar Arvind 
Published: December 2021

Abstract

Objectives
The fact that oxidative stress plays an important role in the pathogenesis of various pulmonary diseases is supported by the beneficial effect of antioxidants. It is also well known that an altered oxidant-antioxidant balance after the age of 35 years increases the susceptibility to develop obstructive lung diseases later in life. Given this, the present study was designed to evaluate the effect of antioxidant supplementation on lung functions in healthy adults after the age of 35 years.

Methods
Persons of age ≥35 years (n=45) were randomized into three arms (each comprising 15 participants) to receive either no intervention (NI arm), ascorbic acid 250 mg daily (AA250 arm), or ascorbic acid 500 mg daily (AA500 arm) for 6 weeks. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), FEV1/FVC, and peak expiratory flow (PEF) were measured at baseline and 6 weeks. Persons of age group (20–30 years) were also enrolled in the study to compare their lung functions and cardiovascular parameters at baseline with those ≥35 years of age. All the adverse events experienced by participants were recorded.

Results
Baseline pulmonary functions were found to be comparable among the three study arms and compared to ≥35 years age group, these parameters were found to be better in the younger age group (20–30 years). Most of the pulmonary functions were comparable among the three study arms at 6 weeks. A significant improvement in PEF and % predicted PEF was noted in AA250 arm when compared to baseline values (p=0.049 and 0.026, respectively) and in participants with normal pulmonary functions when compared to those with reduced functions at baseline (p=0.059 and p=0.037).

Conclusions
Although ascorbic acid did not affect most of the pulmonary functions in healthy adults, it improved PEF and % predicted PEF at a daily dose of 250 mg. In this regard, it was found effective in individuals with normal pulmonary indices at baseline.
Alpha2-antiplasmin deficiency affects depression and anxiety-like behavior and apoptosis induced by stress in mice
Authors: Kanno Yosuke , Tsuchida Kaho , Maruyama Chihiro , Hori Kyoko , Teramura Hanako , Asahi Shiho , Matsuo Osamu , Ozaki Kei-ichi 
Published: December 2021

Abstract

Objectives
Depression is a psychiatric disorder that affects about 10% of the world’s population and is accompanied by anxiety. Depression and anxiety are often caused by various stresses. However, the etiology of depression and anxiety remains unknown. It has been reported that alpha2-antiplasmin (α2AP) not only inhibits plasmin but also has various functions such as cytokine production and cell growth. This study aimed to determine the roles of α2AP on the stress-induced depression and anxiety.

Methods
We investigated the mild repeated restraint stress-induced depressive and anxiety-like behavior in the α2AP+/+ and α2AP−/− mice using the social interaction test (SIT), sucrose preference test (SPT), and elevated plus maze (EPM).

Results
The stresses such as the mild repeated restraint stress suppressed α2AP expression in the hippocampus of mice, and the treatment of fluoxetine (selective serotonin reuptake inhibitor [SSRI]) recovered the stress-caused α2AP suppression. We also showed that α2AP deficiency promoted the mild restraint stress-stimulated depression-like behavior such as social withdrawal and apathy and apoptosis in mice. In contrast, α2AP deficiency attenuated the mild restraint stress induced the anxiety-like behavior in mice.

Conclusions

α2AP affects the pathogenesis of depression and anxiety induced by stress.
Effects of Yogic practices on cardiovascular system and salivary alpha amylase on Indian healthy jail inmates
Authors: Jain Khushbu , Pal Rameswar , Badoni Sachendra , Kaushik Jitender , Kumari Gond Pooja , Basavaraddi Ishwar V. 
Published: December 2021

Abstract

Objectives
Imprisoned people usually have a poor health status and an increase risk to suffer chronic debilitating conditions, co-infection due to their limitations in physical activity and mental disturbances. This study was carried to find out the health impacts of Yogic practice of Indian healthy jail inmates.

Methods
It was interventional single group pre-post design study. A total no of 30, Jail inmates including 08 female were participated in this study and practiced Yoga for six months. Body Mass Index, Heart Rate, Blood Pressure, Salivary alpha amylase activity (SAA) a stress marker were assessed before, after three months and after completion of six months of Yogic practice.

Results
Improvement was noted in all parameters, but significant improvement was noted in systolic blood pressure, diastolic blood pressure, mean blood pressure, double product a index of load in the heart and SAA following Yogic practice in total participants. Significant improvement was also noted in systolic blood pressure, diastolic blood pressure, mean blood pressure, double product a index of load in the heart and SAA following Yogic practice in male group. No significant effect was noted in female group.

Conclusions
The present study revealed that regular Yogic practice resulted in reduction blood pressure, load in the heart and stress in mail jail inmates, when it is practiced regularly and carefully.
Predicting the possible effect of miR-203a-3p and miR-29a-3p on DNMT3B and GAS7 genes expression
Authors: Ali Afgar , Mahla Sattarzadeh Bardsiri , Reza Vahidi , Alireza Farsinejad 
Published: December 2021

Abstract
Aberrant expression of genes involved in methylation, including DNA methyltransferase 3 Beta (DNMT3B), can cause hypermethylation of various tumor suppressor genes. In this regard, various molecular factors such as microRNAs can play a critical role in regulating these methyltransferase enzymes and eventually downstream genes such as growth arrest specific 7 (GAS7). Accordingly, in the present study we aimed to predict regulatory effect of miRNAs on DNMT3B and GAS7 genes expression in melanoma cell line. hsa-miR-203a-3p and hsa-miR-29a-3p were predicted and selected using bioinformatics software. The Real-time PCR technique was performed to investigate the regulatory effect of these molecules on the DNMT3B and GAS7 genes expression. Expression analysis of DNMT3B gene in A375 cell line showed that there was a significant increase compared to control (p value = 0.0015). Analysis of hsa-miR-203a-3p and hsa-miR-29a-3p indicated the insignificant decreased expression in melanoma cell line compared to control (p value < 0.05). Compared to control, the expression of GAS7 gene in melanoma cells showed a significant decrease (p value = 0.0323). Finally, our findings showed that the decreased expression of hsa-miR-203a-3p and hsa-miR-29a-3p can hypothesize that their aberrant expression caused DNMT3B dysfunction, possible methylation of the GAS7 gene, and ultimately decreased its expression. However, complementary studies are necessary to definite comment.
Long noncoding RNA NR2F1-AS1 stimulates the tumorigenic behavior of non-small cell lung cancer cells by sponging miR-363-3p to increase SOX4
Authors: Jin Luming , Chen Chaoyang , Huang Lipeng , Sun Qingyu , Bu Liang 
Published: December 2021

Abstract
Long noncoding RNA (lncRNA), specifically the upregulation of lncRNA NR2F1 antisense RNA 1 (NR2F1-AS1), has been involved in the progression of non-small cell lung cancer (NSCLC), but the mechanisms that underlie this remain unclear. In this study, the expression of NR2F1-AS1, miR-363-3p, and SOX4 was assessed in NSCLC cells. A loss-of-function assay was used to measure the tumorigenicity of NSCLC cells. The glycolysis and glutamine metabolism of NSCLC cells was also measured via extracellular acidification rate, consumption of glucose and glutamine, and production of lactate and ATP. The relationships among NR2F1-AS1, miR-363-3p, and SOX4 were detected via dual-luciferase reporter assay. HK-2, GLS1, and SOX4 levels were also analyzed. We found that both NSCLC tissues and cells had higher levels of NR2F1-AS1. Silencing of NR2F1-AS1 inhibited the tumorigenicity of cells in vitro and reduced the glycolysis and glutamine metabolism of NSCLC cells. Regarding its mechanism, NR2F1-AS1 positively regulated the SOX4 level by sponging miR-363-3p. Furthermore, miR-363-3p inhibition or SOX4 overexpression reversed the repressing role of sh-NR2F1-AS1 in the tumorigenicity of NSCLC cells. In summary, NR2F1-AS1 promotes the tumorigenicity of NSCLC cells by regulating miR-363-3p/SOX4.
Clinical genetic testing and counselling in autism spectrum disorder
Authors: Freitag Christine M. , Haslinger Denise , Yousaf Afsheen , Waltes Regina 
Published: December 2021

Abstract
Autism spectrum disorders (ASDs) are phenotypically as well as genetically heterogeneous developmental disorders with a strong heritability. Clinical and basic science research has described many replicated genetic risk factors. Many findings can well be translated into clinical human genetic practice. The current article summarizes results of genetic studies in ASD, provides a diagnostic algorithm for the clinical human genetic work-up reflecting the German health care system options and gives information with regard to the obligatory genetic counselling after a clinical genetic assessment.
Genetic and epigenetic findings in anorexia nervosa
Authors: Hirtz Raphael , Hinney Anke 
Published: December 2021

Abstract
Polygenic factors are relevant for the genetic predispositions to the eating disorder anorexia nervosa (AN). The most recent genome-wide association study (GWAS) for AN comprised almost 17,000 patients with AN and controls. A total of eight genome-wide significant polygenic loci associated with AN have been identified. Each single polygenic locus makes only a small contribution to the development of AN. Analyses across different traits successfully identified regions/genes for AN that had not been detected by analyses of the single traits. Functional studies of the genes derived by GWAS studies aim to improve the understanding of the biological mechanisms involved in eating disorders. Epigenetic studies have not yet successfully contributed to the understanding of AN.
Update on the genetic architecture of schizophrenia
Authors: Degenhardt Franziska 
Published: December 2021

Abstract
A long-established hypothesis is that schizophrenia has a strong genetic component. In the early 1990s, the first genetic variant that substantially increases risk for psychosis was identified. Since this initial reporting of deletions in the chromosomal region 22q11.2, nearly two decades passed until substantial insights into schizophrenia’s genetic architecture were gained. Schizophrenia is a polygenic disorder and genetic risk is conferred by both common and rare alleles distributed across the genome. A small number of rare, deleterious copy number variants (CNVs) are associated with moderate to substantial increases in individual risk to schizophrenia. These deletions and duplications are also associated with a range of neurodevelopmental disorders. The diagnostic investigation of CNVs in patients with schizophrenia is likely to represent one of the first examples of genetic testing in clinical psychiatry. The prerequisites for this are currently being defined.
Basics and disturbances of genomic imprinting
Authors: Prawitt Dirk , Haaf Thomas 
Published: December 2021

Abstract
Genomic imprinting ensures the parent-specific expression of either the maternal or the paternal allele, by different epigenetic processes (DNA methylation and histone modifications) that confer parent-specific marks (imprints) in the paternal and maternal germline, respectively. Most protein-coding imprinted genes are involved in embryonic growth, development, and behavior. They are usually organized in genomic domains that are regulated by differentially methylated regions (DMRs). Genomic imprints are erased in the primordial germ cells and then reset in a gene-specific manner according to the sex of the germline. The imprinted genes regulate and interact with other genes, consistent with the existence of an imprinted gene network. Defects of genomic imprinting result in syndromal imprinting disorders. To date a dozen congenital imprinting disorders are known. Usually, a given imprinting disorder can be caused by different types of defects, including point mutations, deletions/duplications, uniparental disomy, and epimutations. Causative trans-acting factors in imprinting disorders, including ZFP57 and the subcortical maternal complex (SCMC), have the potential to affect multiple DMRs across the genome, resulting in a multi-locus imprinting disturbance. There is evidence that mutations in components of the SCMC can confer an increased risk for imprinting disorders.
Molecular testing for imprinting disorders
Authors: Beygo Jasmin , Kanber Deniz , Eggermann Thomas , Begemann Matthias 
Published: December 2021

AbstractImprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters. The molecular genetic causes and their respective frequencies vary between the different imprinting disorders so that each has its unique requirements for the diagnostic workflow, making it challenging. To add even more complexity to this field, new molecular genetic causes have been identified over time and new technologies have enhanced the detectability e. g. of mosaic disturbances.The precise identification of the underlying molecular genetic cause is of utmost importance in regard to recurrence risk in the families, tumour risk, clinical management and conventional and in the future therapeutic managements.Here we give an overview of the imprinting disorders, their specific requirements for the diagnostic workup and the most common techniques used and point out possible pitfalls.
Inherited disorders of intermediary metabolism – a group-based approach
Authors: Zschocke Johannes 
Published: December 2021

Abstract
In the recently developed International Classification of Inherited Metabolic Disorders (ICIMD), more than one third of the 1450 listed conditions involve gene products required for intermediary metabolism. 225 of these diseases represent deficiencies of enzymes or transport proteins in the breakdown of nutrients, many of which cause acute “metabolic” presentations with typical biochemical features that are amenable to specific treatments. A group-based approach to these conditions not only assists in understanding and remembering them but facilitates the best choice of diagnostic tests and acute treatment. This review describes the basic characteristics of the 25 disease groups in the four categories of nutrient breakdown in intermediary metabolism, outlines the often relatively straight-forward diagnostic approach, and summarizes important therapeutic principles. It should also assist in the retrospective identification of likely metabolic disorders in the family history for genetic counselling.
Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop
Authors: Schwaninger Gunda , Heidemann Simone , Hofmann Wera , Maurer Tamara , Mayerhanser Katharina , Ronez Joelle , Schüler Herdit , Steinmüller Katharina , Rudnik-Schöneborn Sabine , Zschocke Johannes 
Published: December 2021

Abstract
The genetic counsellor profession has not yet been established in the German-speaking countries. In 2019 the Medical University of Innsbruck inaugurated the first German-taught Master’s degree programme in Genetic and Genomic Counselling. In order to discuss prospects and challenges of the genetic counsellor profession in Germany, Austria and Switzerland (DACH region), the MSc programme team organized a two-day workshop with international speakers and medical geneticists from the DACH region. Day 1 was dedicated to the history, training and international profile of the genetic counsellor profession. Day 2 focused on four specific topics: (i) professional role, (ii) acceptance and job title, (iii) formal requirements and (iv) remuneration concepts for genetic counsellors in the DACH region. The workshop showed that the key factor for the successful implementation of the genetic counsellor profession is acceptance and trust within the medical genetics team. Genetic counsellors complement patient care in aspects that might be underserved considering the increasing demand of counselling in genomic medicine. Successful establishment of the genetic counsellor profession will entail the development of interprofessional teams under medical supervision and in the team of medical geneticists.
Telemedicine – chances and challenges for medical genetics in Germany
Authors: Tecklenburg Johanna 
Published: December 2021

Abstract
Telemedicine has been in practical use for many years, mostly within the context of model projects. The current Covid-19 pandemic has accelerated the process of implementing telemedicine in standard care. Numerous regulations, as well as complex reimbursement structures play a role in the application of telemedicine in medical genetics in Germany. Discipline- and technology-specific challenges complicate the integration of technical solutions into the medical genetic practice. In previous studies teleconsultations and virtual consultations in medical genetics have proven their value as indicated by high levels of satisfaction in the users and showing no inferiority to in-person consultation in terms of psychosocial outcome. The next years will bring an increasing demand for genetic counseling that can hardly be met by the limited number of specialists in Germany. In this context telemedicine can help to close these gaps in standard care while strengthening the field by ensuring comprehensive medical genetic care. The German medical genetics community is asked to actively shape the process of implementation by defining areas of genetic counseling that are suitable for telemedicine, by regulating access for physicians and by contributing to the renumeration structures.
Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome
Authors: Schwarz Jana Marie , Lüpken Richard , Seelow Dominik , Kehr Birte 
Published: December 2021

Abstract
High-throughput sequencing techniques have significantly increased the molecular diagnosis rate for patients with monogenic disorders. This is primarily due to a substantially increased identification rate of disease mutations in the coding sequence, primarily SNVs and indels. Further progress is hampered by difficulties in the detection of structural variants and the interpretation of variants outside the coding sequence. In this review, we provide an overview about how novel sequencing techniques and state-of-the-art algorithms can be used to discover small and structural variants across the whole genome and introduce bioinformatic tools for the prediction of effects variants may have in the non-coding part of the genome.
Public data sources for regulatory genomic features
Authors: Garda Samuele , Schwarz Jana Marie , Schuelke Markus , Leser Ulf , Seelow Dominik 
Published: December 2021

Abstract
High-throughput technologies have led to a continuously growing amount of information about regulatory features in the genome. A wealth of data generated by large international research consortia is available from online databases. Disease-driven studies provide details on specific DNA elements or epigenetic modifications regulating gene expression in specific cellular and developmental contexts, but these results are usually only published in scientific articles. All this information can be helpful in interpreting variants in the regulatory genome. This review describes a selection of high-profile data sources providing information on the non-coding genome, as well as pitfalls and techniques to search and capture information from the literature.
Crystal structure of (E)-amino(2-((5-methylfuran-2-yl)methylene)hydrazinyl) methaniminium nitrate monohydrate, C14H26N10O10
Authors: Jin Ze-Sen , Liu E. , Liu Xiao-jing , Jian Fang-fang , Liang Tongling 
Published: December 2021

Abstract
C14H26N10O10, monoclinic, P21 (no. 4), a = 12.3337(3) Å, b = 3.87010(10) Å, c = 24.2368(6) Å, β = 97.644(2)°, V = 1146.61(5) Å3, Z = 2, R

gt
(F) = 0.0400, wR
ref(F
2) = 0.1092, T = 170 K.
The crystal structure of catena-poly[(1-(4-carboxybenzyl)pyridin-1-ium-4-carboxylato-κ1O)-(μ2-oxalato-κ4
O:O′:O″:O‴)dioxidouranium(VI)], C16H11NO10U
Authors: Meng Yuning , Xie Ziyu , Lan Qiaofa , Niu Fei , Zhang Xiaolin , Yang Youming , Cai Bin 
Published: December 2021

Abstract
C16H11NO10U, monoclinic, P21/c (no. 14), a = 16.4675(12) Å, b = 11.7192(8) Å, c = 9.6663(7) Å, β = 100.823(2)°, V = 1832.3(2) Å3, Z = 4, R

gt
(F) = 0.0277, wR
ref(F2) = 0.0673, T = 170.0 K.
The Feelings We Feel: Care and Community in Mister Rogers’ Neighborhood
Authors: Valentine Riley 
Published: December 2021

Abstract

Mister Rogers’ Neighborhood was a show that focused on teaching children an ethics of caring for oneself and care for others. This article examines those ethics through the songs “I Like You As You Are” and “Won’t You Be My Neighbor.” It contends that these songs focus on a celebration of the self and others, welcoming individuals as they are into the community, and embracing authenticity. This article looks to understand these ethics in a contemporary setting and argues that Mister Rogers and the communal ethics of care that he taught are needed.
Hydrogen production via water splitting over graphitic carbon nitride (g-C3N4
)-based photocatalysis
Authors: Ismael Mohammed 
Published: December 2021

Abstract
Photocatalytic splitting of water into hydrogen and oxygen using semiconductor photocatalysts and light irradiation has been attracted much attention and considered to be an alternative for nonrenewable fossil fuel to solve environmental problems and energy crisis and also an as promising approach to produce clean, renewable hydrogen fuel. Owing to their various advantages such as low cost and environmental friendly, chemical, and thermal stability, appropriate band structure, graphitic carbon nitride (g-C3N4
) photocatalysts have gained multitudinous attention because of their great potential in solar fuels production and environmental remediation. However, due to its fast charge carrier’s recombination, low surface, and limited absorption of the visible light restrict their activity toward hydrogen evolution and numerous modification techniques were applied to solve these problems such as structural modification, metal/nonmetal doping, and noble metal loading, and coupling semiconductors. In this chapter, we summarize recent progress in the synthesis and characterization of the g-C3N4-based photocatalyst. Several modification methods used to enhance the photocatalytic hydrogen production of g-C3N4-based photocatalyst were also highlighted. This chapter ends with the future research and challenges of hydrogen production over g-C3N4-based photocatalyst.