bluuebunny/crossref_metadata_2025_split huggingface dataset:
Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing
Authors: Shum Bennett O. V. , Henner Ilya , Cairns Anita , Pretorius Carel , Wilgen Urs , Barahona Paulette , Ungerer Jacobus P. J. , Bennett Glenn 
Published: January 2023

Newborn screening (NBS) assays for spinal muscular atrophy (SMA) typically use a polymerase chain reaction (PCR) based assay to identify individuals with homozygous deletion in exon 7 of the SMN1 gene. Due to high DNA sequence homology between SMN1 and SMN2, it has previously been difficult to accurately bioinformatically map short reads from next-generation DNA sequencing (NGS) to SMN1, resulting in low analytical performance and preventing NGS being used for SMA screening. Advances in bioinformatics have allowed NGS to be used in diagnostic settings, but to date these assays have not reached the scale required for high volume population newborn screening and have not been performed on the dried blood spot samples that NBS programs currently use. Here we integrate an NGS assay using hybridisation-based capture with a customised bioinformatics algorithm and purpose designed high throughput reporting software into an existing NBS program to achieve a laboratory workflow for population SMA screening. We tested the NGS assay on over 2500 newborns born over 2 weeks in a NBS program in a technical feasibility study and show high sensitivity and specificity. Our results suggest NGS may be an alternate method for SMA screening by NBS programs, providing a multiplex testing platform on which potentially hundreds of inherited conditions could be simultaneously tested.
Design and development of the solar cycloidal thermal concentrator and tapered receiver assembly along with theoretical evaluation of system performance
Authors: Kulkarni Mohan , Dingare Sunil , Kulkarni Chandrakant 
Published: January 2023

In this paper, the design and development of a solar cycloidal concentrating system along with utilization of the tapered receiver is presented. For the determination of the performance of the system, theoretical analysis was carried out. The novel concept of utilizing a tapered receiver for a solar cycloidal concentrating system is an innovative approach for this research. After the determination of various parameters for this system, a patent was filed and published under the patent No. 202021028009A on 31 July 2020. For the comparative study purpose, the author has taken three receivers with a constant concentration ratio and different diameters such as .038 m, .031 m, and .025 m. Theoretical evaluation of the system is estimated using modes of heat transfers and using the relation of energy balance. Various correlations are determined for an analytical evaluation purpose. By using graphical collation of all the results for all the three receivers, the author has proposed to use a tapered receiver with the variable CR. CR denotes the concentration ratio. A concentration ratio is defined as the ratio of the area of an aperture to the area of a receiver. In this research, a variable concentration ratio (CR) is used. The receiver used has a diameter which reduces from the inlet to the outlet, and hence, the intercept factor decreases and the concentration ratio increases, leading to an enhancement in efficiency.
A bibliometric analysis: Current status and frontier trends of Schwann cells in neurosciences
Authors: Wang Yan , Zhang Shiwen , Zhi Jincao , Huang Meiling , Pei Fei 
Published: January 2023

BackgroundThis review aims to present a comprehensive bibliometric analysis related to Schwann cells (SCs) in neurosciences from 2012 to 2021.MethodsWe used the Web of Science core collection database to obtain publications on SCs in the field of neurosciences from 2012 to 2021. The obtained data were further visually analyzed by using CiteSpace, VOSviewer, and an online bibliometric platform.ResultsWe retrieved a total of 1,923 publications related to SCs in neurosciences. The number of publications in this field fluctuates steadily each year, and the number of citations is increasing year by year. The United States is leading the field, with LERU and the University OF London as influential institutions, Jessen KR and Feltri ML as the most representative authors, and GLIA and JOURNAL OF NEUROSCIENCE as authoritative journals in the field. Meanwhile, we predict that a more in-depth study of autophagy and phagocytosis functions of SCs and the key regulator c-Jun will probably be a hot spot for future research.ConclusionThis study summarizes the current research results and predicts research trends for further research, which will facilitate researchers in quickly understanding the current state of research in the field while referring to new research directions.
Case report: Severe hepatic fibrosis induced by chronic cholestasis of congenital biliary dilation treated by laparoscopic surgery after immunonutrition support– An infantile case
Authors: Sugita Koshiro , Onishi Shun , Muto Mitsuru , Nishida Nanako , Nagano Ayaka , Murakami Masakazu , Harumatsu Toshio , Yamada Koji , Yamada Waka , Kawano Takafumi , Ieiri Satoshi 
Published: January 2023

IntroductionIn some patients with congenital biliary dilation (CBD), biliary cirrhosis has been reported to rapidly progress from the neonatal period to the infantile period. We herein report an infantile case of CBD that showed severe biliary cirrhosis at the diagnosis, which was treated by laparoscopic surgery.Case presentationA 16-month-old girl underwent conservative therapy for liver dysfunction and cholangitis on a remote island of our prefecture. She was transferred to our hospital after the detection of a huge dilated common bile duct on imaging at the previous hospital. Contrast-enhanced computed tomography showed a dilated common bile duct (maximum diameter: 5 cm), thus suggesting CBD. However, her laboratory data on admission showed a poor nutritional status and severe liver dysfunction (Alb, 2.5 mg/dl; AST, 79 IU/L; ALT, 43 IU/L; γ-GTP, 491 mg/dl; D-bil, 0.3 mg/dl; CHE, 90 IU/L; NH3, 123 μg/dl). We initially performed laparoscopic exploration and bile drainage via the gallbladder, noting severe hepatic fibrosis resembling end-stage liver cirrhosis. After placing a drainage tube in the gallbladder, cholangiography was performed. Cholangiography showed Todani type IVa CBD with pancreaticobiliary maljunction. Contrast agent flowing into the duodenum could not be confirmed. The patient received liver-supporting therapy and nutritional support for 7 weeks before definitive surgery. Following the improvement of the hepatic synthetic capacity (Alb, 4.0 mg/dl; AST, 82 IU/L; ALT, 78 IU/L; γ-GTP, 157 mg/dl; D-bil, 0.2 mg/dl; CHE, 232 IU/L; NH3, 75 μg/dl), we performed extrahepatic bile duct excision and hepaticojejunostomy laparoscopically. Laparoscopic surgery was successfully performed along with liver biopsy. Histopathologically, the liver specimen showed chronic hepatitis and fibrosis (F3A2). Biliary scintigraphy showed good bile excretion at postoperative day 15. The postoperative course uneventful, and the patient was discharged on the 23rd day after surgery. A needle liver biopsy six months later showed mild improvement of chronic hepatitis and fibrosis (F2-3A1). The patient was regularly followed at the outpatient clinic.ConclusionsSevere liver fibrosis was suspected to be continuous cholestasis of CBD after birth. CBD with severe liver fibrosis may avoid liver transplantation by two-stage surgery with hepatoprotection therapy and immunonutritional support.
Locally resonant metasurface for low-frequency transmissive underwater acoustic waves
Authors: Chen Zhong , Guan Shenghong , Xie Qiang , Li Zheng , Gao Zhongmei , Negahban Mehrdad 
Published: January 2023

Introduction: Acoustic metasurfaces for underwater wave manipulation have great potential use, but the strong solid-fluid interaction caused by impedance closeness between the structure and water brings design difficulty, especially in the low-frequency range.Methods: Here a locally resonant metasurface for transmissive underwater acoustic waves is proposed using finite element method for which each metasurface unit consists of one channel and three subunits. Each subunit has one plate and two rubber spacers to form a resonator. By changing the height ratio of the plate over the subunit, arbitrary phase shifts within the full 2π coverage can be obtained at will with transmission ratio always higher than 60%.Results: Three applications, including asymmetric transmission, self-bending, and source illusion, are chosen to validate the design methodology.Discussion: Compared with previous transmissive type underwater metasurface, this design has the advantage of low frequency and simple fabrication. This work provides a novel paradigm of modulating waves for ocean exploration, underwater communication, and submarine stealth and antidetection.
Effects of prolonged local vibration superimposed to muscle contraction on motoneuronal and cortical excitability
Authors: Pfenninger Clara , Grosboillot Nathan , Digonet Guillaume , Lapole Thomas 
Published: January 2023

Introduction: Acute effects of prolonged local vibration (LV) at the central nervous system level have been well investigated demonstrating an altered motoneuronal excitability with a concomitant increase in cortical excitability. While applying LV during isometric voluntary contraction is thought to optimize the effects of LV, this has never been addressed considering the acute changes in central nervous system excitability.Materials and Methods: In the present study, nineteen healthy participants were engaged in four randomized sessions. LV was applied for 30 min to the relaxed flexor carpi radialis muscle (VIBRELAXED) or during wrist flexions (i.e. intermittent contractions at 10% of the maximal voluntary contraction: 15 s ON and 15 s OFF; VIBCONTRACT). A control condition and a condition where participants only performed repeated low-contractions at 10% maximal force (CONTRACT) were also performed. For each condition, motor evoked potentials (MEPs) elicited by transcranial magnetic stimulation and cervicomedullary evoked potentials (CMEPs) elicited by corticospinal tract electrical stimulation were measured before (PRE) and immediately after prolonged LV (POST) to investigate motoneuronal and corticospinal excitability, respectively. We further calculated the MEP/CMEP ratio as a proxy of cortical excitability.Results: No changes were observed in the control nor CONTRACT condition. At POST, CMEP decreased similarly in VIBRELAXED (−32% ± 42%, p &lt; .001) and VIBCONTRACT (−41% ± 32%, p &lt; .001). MEP/CMEP increased by 110% ± 140% (p = .01) for VIBRELAXED and by 120% ± 208% (p = .02) for VIBCONTRACT without differences between those conditions.Discussion: Our results suggest that LV to the flexor carpi radialis muscle, either relaxed or contracted, acutely decreases motoneuronal excitability and induces some priming of cortical excitability.
Association between intimate partner psychological violence and psychological distress among nurses: The role of personality traits and social support
Authors: Huang Wentao , Zhang Fan , Sun Xibin , Yu Qing , Huang Jingxin , Su Yunhui , Lan Yutao 
Published: January 2023

AimThis study proposes investigating the risk and protective factors of intimate partner (IP) psychological violence and psychological distress to better promote psychological wellbeing for nurses and health outcomes for patients.DesignA cross-sectional study.MethodThis cross-sectional study was carried out chiefly in Guangdong, Hunan, and Shaanxi provinces, in the east, central, and west of the Chinese economic areas, respectively. It was conducted in October 2021 using convenience sampling. A total of 843 nurses were eligible for the final analysis. Single-factor linear regression models were used to identify potential factors associated with IP psychological violence and psychological distress. In addition, the structural equation model was used to explore the role of personality traits and social support in the association between IP psychological violence and psychological distress.ResultsThe predictors for the score of IP psychological violence among nurses were participants' married status, contact frequency with a partner, perceived past-year psychological and physical violence experience, the alcohol consumption of partners, and personality traits and social support of partners. Moreover, the alcohol consumption of participants, the past-year experience of IP psychological violence, the score of psychological violence, personality traits, social support, and the personality traits of partners were associated factors affecting the psychological distress of nurses. In the structural model, the personality trait of partners had a direct pathway to psychological violence and social support. The results demonstrated that psychological violence significantly increased psychological distress.ConclusionPersonality traits and social support are essential factors influencing the relationship between IP psychological violence and psychological distress.ImpactThe findings of this study emphasize the possibility and importance of identification and intervention for reducing IP psychological violence based on personality traits and social support.
What is the burden of tinnitus?
Authors: Pryce Helen , Dauman Nicolas , Burns-O’Connell Georgina 
Published: January 2023

IntroductionTinnitus is a complex experience that often occurs alongside other health conditions, including hearing loss. In the UK, as in other western countries, patterns of health are changing with a rise in multi-morbidity and complexity of health conditions. As we age, we can expect to live with multiple health conditions. Burden of illness has long been recognised. Less well recognised is the burden that accumulates from the treatment of health conditions.MethodsThis qualitative thematic analysis of patient accounts described the cumulative burdens of tinnitus, both the experience of hearing the tinnitus and from the treatments undertaken. Between 2017-8 we conducted interviews with 38 participants who were help-seekers in a range of contrasting UK clinical services (Physician led, Audiology led and Hearing Therapy led). We examined these interview data using reflexive thematic analysis methods to identify and explore the cumulative burdens for those who live with and seek help for their tinnitus. Specifically, we used six phased approach to determine and group themes.ResultsThe themes provide a coherent description of the nature of the burden that people with tinnitus experience.DiscussionIn tinnitus, as with most chronic health conditions, the largest treatment workload is devolved to the patient. Patients are required to implement treatments, learn about tinnitus and find new ways of coping. Yet this work happens invisibly, without recognition from clinicians who measure outcomes but not the efforts made to achieve outcomes. Patient-centred care depends upon the recognition of the cumulative burdens that patients experience.
Barriers and facilitators to the implementation of workplace health promotion programs: Employers' perceptions
Authors: Campmans Jennifer M. D. , Smit Denise J. M. , van Oostrom Sandra H. , Engels Josephine A. , Proper Karin I. 
Published: January 2023

BackgroundWorkplace health promotion programs (WHPPs) can benefit the lifestyle and health of employees. However, not all WHPPs have been successful in their implementation, and thus their effectiveness. This study aimed to identify the barriers and facilitators to implementing an integrated WHPP, which targets multiple lifestyle factors at different levels (individual and organizational), from an employer's perspective.MethodsData were collected by two online focus groups among 18 representatives of eight different organizations. Data from the focus group discussions were transcribed verbatim and analyzed using thematic analysis. Data were coded both inductively and deductively, using the Consolidated Framework for Implementation Research (CFIR) consisting of the following five domains: (1) intervention characteristics, (2) outer setting, (3) inner setting, (4) characteristics of individuals, and (5) process. Ratings were performed to indicate the positive or negative influence and strength of a construct regarding the implementation of WHPPs.ResultsBarriers and facilitators in all domains of the CFIR were found. Regarding characteristics of the WHPP, complexity and costs hindered implementation, while high adaptability facilitated it. An organization that met the needs of employees (the outer setting) facilitated implementation. Available resources, access to knowledge, leadership involvement, and continuity of communication were facilitators within the inner setting. Barriers were different approaches to implementation within one organization and the perceived interference with employees' lives. For the implementation process, the involvement of key stakeholders, including employees, was identified as an important facilitator.ConclusionVarious barriers and facilitators in different domains play a role in the implementation of integrated WHPPs, according to employers. Strategies that tackle the identified barriers and incorporate the facilitators will likely contribute to the successful implementation of integrated WHPPs.
Evaluating the impact of community health worker certification in Massachusetts: Design, methods, and anticipated results of the Massachusetts community health worker workforce survey
Authors: Nielsen Victoria M. , Ursprung W. W. Sanouri , Song Glory , Hirsch Gail , Mason Theresa , Santarelli Claire , Guimaraes Erica , Marshall Erica , Allen Caitlin G. , Lei Pei-Pei , Brown Diane , Behl-Chadha Bittie 
Published: January 2023

BackgroundProfessional certification of community health workers (CHWs) is a debated topic. Although intended to promote CHWs, certification may have unintended impacts given the grassroots nature of the workforce. As such, both intended effects and unintended adverse effects should be carefully evaluated. However, there is a lack of published literature describing such effective evaluations with a robust methodology. In this methods paper, we describe a key component of evaluating CHW certification in Massachusetts-the Massachusetts CHW Workforce Survey.MethodsDesign of the surveys was informed by a program theory framework that delineated both positive and negative potential impacts of Massachusetts CHW certification on CHWs and CHW employers. Using this framework, we developed measures of interest and preliminary CHW and CHW employer surveys. To validate and refine the surveys, we conducted cognitive interviews with CHWs and CHW employers. We then finalized survey tools with input from state and national stakeholders, CHWs, and CHW employers. Our sample consisted of three frames based on where CHWs are most likely to be employed in Massachusetts: acute care hospitals, community-based organizations, and ambulatory care health centers, primarily community health centers and federally qualified health centers. We then undertook extensive outreach efforts to determine whether each organization employed CHWs and to obtain CHW and CHW employer contact information. Our statistical analysis of the data utilized inverse probability score weighting accounting for organizational, site, and individual response.Anticipated resultsWave one of the survey was administered in 2016 prior to launch of Massachusetts CHW certification and wave two in 2021. We report descriptive statistics of the three sample frames and response rates of each survey for each wave. Further, we describe select anticipated results related to certification, including outcomes of the program theory framework.ConclusionsThe Massachusetts CHW Workforce Survey is the culmination of 5 years of effort to evaluate the impact of CHW certification in Massachusetts. Our comprehensive description of our methodology addresses an important gap in CHW research literature. The rigorous design, administration, and analysis of our surveys ensure our findings are robust, valid, and replicable, which can be leveraged by others evaluating the CHW workforce.
eSexualHealth: Preferences to use technology to promote sexual health among men who have sex with men and trans and gender diverse people
Authors: Abraham Esha , Chow Eric P. F. , Fairley Christopher K. , Lee David , Kong Fabian Y. S. , Mao Limin , Goller Jane L. , Medland Nicholas , Bavinton Benjamin R. , Sudarto Budiadi , Joksic Stefan , Wong Jessica , Phillips Tiffany R. , Ong Jason J. 
Published: January 2023

ObjectivesGay, bisexual and other men who have sex with men (GBMSM) and trans and gender diverse (TGD) people are disproportionately affected by poorer sexual health outcomes compared to heterosexual populations. We aimed to explore the preferences of GBMSM and TGD for using eHealth for sexual health (eSexualHealth).MethodsWe distributed an anonymous online survey from April to August 2021among the lesbian, gay, bisexual, transgender, intersex, queer and other people of diverse sexuality or gender (LGBTIQA+) community in Australia. The survey collected data on sociodemographic characteristics and sexual behaviors, their preferences for app/website functions and preferred HIV and sexually transmitted infection (STI) testing reminders. We used descriptive statistics to summarize the characteristics of the study population. Free-text responses were thematically analyzed.ResultsOf 466 participants included, most identified as cisgender males (92.7%). The median age was 48 [interquartile range (IQR): 37–56]. For accessing sexual health-related information, 160 (34.6%) would use either a website or an app, 165 (32.7%) would prefer a website, 119 (25.8%) would prefer an app, and 33 (7.1%) would not use either platform. There was no significant difference between GBMSM and TGD people. Participants were most interested in information about STI clinics, HIV/STI hotspots, and sexual health education. Participants stressed the need for privacy and anonymity when using eHealth. Regarding reminders to test for HIV/STIs, receiving regular SMS was most popular (112/293, 38.2%), followed by regular emails (55/293 18.8%) and a reminder function on their phone (48/293, 16.4%).ConclusionOur study suggests a promising future for eHealth among GBMSM and TGD people. Sexual health is still a stigmatized area, and eHealth may circumvent barriers this population faces.