bluuebunny/crossref_metadata_2025_split huggingface dataset:
A family-based study of genetic and epigenetic effects across multiple neurocognitive, motor, social-cognitive and social-behavioral functions
Authors: Nudel Ron , Zetterberg Richard , Hemager Nicoline , Christiani Camilla A. J. , Ohland Jessica , Burton Birgitte K. , Greve Aja N. , Spang Katrine S. , Ellersgaard Ditte , Gantriis Ditte L. , Bybjerg-Grauholm Jonas , Plessen Kerstin J. , Jepsen Jens Richardt M. , Thorup Anne A. E. , Werge Thomas , Mors Ole , Nordentoft Merete 
Published: December 2022

AbstractMany psychiatric and neurodevelopmental disorders are known to be heritable, but studies trying to elucidate the genetic architecture of such traits often lag behind studies of somatic traits and diseases. The reasons as to why relatively few genome-wide significant associations have been reported for such traits have to do with the sample sizes needed for the detection of small effects, the difficulty in defining and characterizing the phenotypes, partially due to overlaps in affected underlying domains (which is especially true for cognitive phenotypes), and the complex genetic architectures of the phenotypes, which are not wholly captured in traditional case–control GWAS designs. We aimed to tackle the last two issues by performing GWASs of eight quantitative neurocognitive, motor, social-cognitive and social-behavioral traits, which may be considered endophenotypes for a variety of psychiatric and neurodevelopmental conditions, and for which we employed models capturing both general genetic association and parent-of-origin effects, in a family-based sample comprising 402 children and their parents (mostly family trios). We identified 48 genome-wide significant associations across several traits, of which 3 also survived our strict study-wide quality criteria. We additionally performed a functional annotation of implicated genes, as most of the 48 associations were with variants within protein-coding genes. In total, our study highlighted associations with five genes (TGM3, CACNB4, ANKS1B, CSMD1 and SYNE1) associated with measures of working memory, processing speed and social behavior. Our results thus identify novel associations, including previously unreported parent-of-origin associations with relevant genes, and our top results illustrate new potential gene → endophenotype → disorder pathways.
Children’s inhibition skills are associated with their P3a latency—results from an exploratory study
Authors: Linnavalli Tanja , Lahti Outi , Törmänen Minna , Tervaniemi Mari , Cowley Benjamin Ultan 
Published: December 2022

AbstractBackgroundThe P3a response is thought to reflect involuntary orienting to an unexpected stimulus and has been connected with set-shifting and inhibition in some studies. In our exploratory study, we investigated if the amplitude and the latency of the P3a response were associated with the performance in a modified flanker task measuring inhibition and set-shifting in 10-year-old children (N = 42). Children participated in electroencephalography (EEG) measurement with an auditory multifeature paradigm including standard, deviating, and novel sounds. In addition, they performed a separate flanker task requiring inhibition and set-shifting skills.ResultsThe P3a latencies for deviant sounds were associated with the reaction time reflecting inhibition: the shorter the response latencies were, the faster the reaction time was. The P3a latencies for novel sounds were not linked to the reaction times reflecting either inhibition or set-shifting. In addition, the magnitude of the P3a response was not associated with the performance in the flanker task.ConclusionsOur results suggest that P3a response latency and reaction speed reflecting inhibitory skills are based on shared neural mechanism. Thus, the present study brings new insight to the field investigating the associations between behavior and its neural indices.
Efficacy and safety of percutaneous endoscopic cervical discectomy for cervical disc herniation: a systematic review and meta-analysis
Authors: Zhang Jinjie , Zhou Qiujun , Yan Yan , Ren Jianlei , Wei Shenyu , Zhu Haijia , Song Zhoufeng 
Published: December 2022

Abstract
Background
Since there are currently no systematic evidence-based medical data on the efficacy and safety of PECD, this meta-analysis pooled data from studies that reported the efficacy or safety of PECD for cervical disc herniation to examine the efficacy, recurrence and safety of using PECD to treat cervical disc herniation.

Methods
We searched the PubMed, EMBASE and Cochrane Library databases for studies published from inception to July 2022. Nine nonrandomized controlled trials (non-RCTs) that reported the efficacy or safety of percutaneous endoscopic cervical discectomy for cervical disc herniation were included. We excluded duplicate publications, studies without full text, studies with incomplete information, studies that did not enable us to conduct data extraction, animal experiments and reviews. STATA 15.1 software was used to analyse the data.

Results
The proportions of excellent and good treatment results after PECD for CDH were 39% (95% CI: 31–48%) and 47% (95% CI: 34–59%), respectively. The pooled results showed that the VAS scores at 1 week post-operatively (SMD = −2.55, 95% CI: − 3.25 to − 1.85) and at the last follow-up (SMD = − 4.30, 95% CI: − 5.61 to − 3.00) after PECD for cervical disc herniation were significantly lower than the pre-operative scores. The recurrence rate of neck pain and the incidence of adverse events after PECD for cervical disc herniation were 3% (95% CI: 1–6%) and 5% (95% CI: 2–9%), respectively. Additionally, pooled results show that the operative time (SMD = − 3.22, 95% CI: − 5.21 to − 1.43) and hospital stay (SMD = − 1.75, 95% CI: − 2.67to − 0.84) were all significantly lower for PECD than for ACDF. The pooled results also showed that the proportion of excellent treatment results was significantly higher for PECD than for ACDF (OR = 2.29, 95% CI: 1.06–4.96).

Conclusion
PECD has a high success rate in the treatment of CHD and can relieve neck pain, and the recurrence rate and the incidence of adverse events are low. In addition, compared with ACDF, PECD has a higher rate of excellent outcomes and a lower operative time and hospital stay. PECD may be a better option for treating CHD.
Factors affecting titanium mesh cage subsidence in single-level anterior cervical corpectomy and fusion for ossification of the posterior longitudinal ligament
Authors: Tang Yifan , Geng Xiangwu , Li Fengning , Sun Yanqing , Jia Lianshun , Zhou Shengyuan , Chen Xiongsheng 
Published: December 2022

Abstract
Purpose
To analyze risk factors of titanium mesh cage (TMC) subsidence in single-level anterior cervical corpectomy and fusion (ACCF) for cervical ossification of the posterior longitudinal ligament (OPLL).

Methods
TMC subsidence is defined as the reduction of the adjacent vertebral bodies by ≥ 2 mm. Patients with cervical OPLL who were treated with single-level ACCF between January 2019 and May 2021 were retrospectively analyzed in two groups: patients with TMC subsidence as Group S and patients with no TMC subsidence as Group N during the one-year follow-up period. The degree of distraction of surgical segment and correction of the cervical curvature was measured to analyze their relationship with TMC subsidence.

Results
A total of 128 patients were included in Group S, and 138 patients were included in Group N. There was no significant difference in patient demographics and complications between the two groups. The degree of distraction in Group S was significantly higher than that in Group N (11.4% ± 7.6% vs. 4.7% ± 9.7%, P < 0.01). The change of C2 to C7 Cobb angle (α) in Group S was significantly greater than that in Group N (5.7 ± 2.7 vs. 1.4 ± 4.7, P < 0.01), and the change of interspinous process distance (SPD) in Group S was also significantly greater than that in Group N (7.0 ± 4.2 vs. 4.1 ± 2.7, P < 0.01). The JOA score and JOA recovery rate were not statistically different between the two groups.

Conclusions
Intraoperative selection of overlength TMC in single-level ACCF for OPLL, over-distraction and excessive correction of the cervical curvature may cause TMC subsidence after surgery. No significant impact of TMC subsidence on the surgical outcome was observed during the 1-year follow-up period.
Efficacy of electroacupuncture in assisting postoperative healing of distal radius fractures: study protocol for a randomized controlled trial
Authors: Fu Jiani , Cai Xiaowen , Ouyang Huailiang , Gong Chunzhu , Huang Yong 
Published: December 2022

Abstract
Background
Manual reduction and surgical treatment are common methods for distal radius fractures (DRFs). The existing literature suggests that postoperative combined rehabilitation treatment and medication are effective for the healing of DRFs. However, the side effects of these treatments remain to be solved. Previous studies have shown that electroacupuncture (EA) can effectively relieve wrist swelling and improve the joint function in patients with DRFs, but more evidence is needed to prove the effectiveness of EA. This trial aims to explore the efficiency and feasibility of combined EA treatment in postoperative treatment of DRFs compared with routine treatment.

Methods
This is a parallel randomized controlled trial. A total of 222 patients diagnosed with moderate DRFs will be recruited and randomly assigned to an EA group or a routine treatment group at a ratio of 1:1. Routine treatment group will receive medication and rehabilitation. Yangxi (LI 5), Yangchi (TE 4), Yanggu (SI 5), Hegu (LI 4), and Taiyuan (LU 9) will be selected in the EA group for intervention three times a week on the basis of routine treatment. Both groups will receive 8 weeks of treatment and 4 weeks of follow-up. The primary outcome will be ulnar positive variance. The secondary outcomes will include radiographic healing rate, bone strength, hemorheological indices, serum biochemical indicators and inflammatory factors, grip strength, wrist swelling score, patient-rated wrist evaluation, disabilities of arm, shoulder and hand, and visual analogue scale. Outcomes will be evaluated at baseline, postoperative 3rd day, 2nd, 4th, 6th, 8th, and 12th weeks.

Discussion
The results of this study will help establish a more optimized scheme to treat patients with DRFs.
Trial registration Chinese Clinical Trial Registry ChiCTR2200062857. Registered on 21 August 2022, www.chictr.org.cn/com/25/showproj.aspx?proj=175567.
Personalization of IVF-ICSI workflow based on patient characteristics improves IVF laboratory outcomes and embryo ploidy by PGT-A
Authors: Wyse Brandon A. , Fuchs Weizman Noga , Montbriand Janice , Kharonsky Rima , Antes Ran , Abramov Rina , Madjunkova Svetlana , Librach Clifford L. 
Published: December 2022

Abstract
Background
Intracytoplasmic sperm injection (ICSI) has become a common method of fertilization in assisted reproduction worldwide. However, there are still gaps in knowledge of the ideal IVF-ICSI workflow including the optimal duration of time between induction of final oocyte maturation, oocyte denudation and ICSI. The aim of this study was to examine outcomes following different workflow protocols in IVF-ICSI procedures in blastocysts that have undergone undisturbed incubation and preimplantation genetic testing for aneuploidy (PGT-A) prior to transfer.

Methods
Retrospective secondary analysis of 113 patients (179 IVF cycles, 713 embryos), all of whom have gone through IVF-ICSI and PGT-A using undisturbed culture. Predictive test variables were the length of time from: trigger to OPU, OPU to denudation, and denudation to ICSI. Outcome metrics assessed were: maturation, fertilization, blastulation and euploid rates. Generalized Estimated Equations Linear Model was used to examine the relationship between key elements of a given cycle and continuous outcomes and LOESS curves were used to determine the effect over time.

Results
In a paired multi-regression analysis, where each patient served as its own control, delaying OPU in patients with unexplained infertility improved both maturation and blastulation rates (b = 29.7, p < 0.0001 and b = 9.1, p = 0.06, respectively). Longer incubation with cumulus cells (CCs) significantly correlated with improved ploidy rates among patients under 37, as well as among patients with unexplained infertility (r = 0.22 and 0.29, respectively), which was also evident in a multiple regression analysis (b = 6.73, p < 0.05), and in a paired analysis (b = 6.0, p < 0.05). Conversely, among patients with a leading infertility diagnosis of male factor, longer incubation of the denuded oocyte prior to ICSI resulted in a significantly higher euploid rate (b = 15.658, p < 0.0001).

Conclusions
In this study we have demonstrated that different IVF-ICSI workflows affect patients differently, depending on their primary infertility diagnosis. Thus, ideally, the IVF-ICSI workflow should be tailored to the individual patient based on the primary infertility diagnosis. This study contributes to our understanding surrounding the impact of IVF laboratory procedures and highlights the importance of not only tracking “classic” IVF outcomes (maturation, fertilization, blastulation rates), but highlights the importance that these procedures have on the ploidy of the embryo.
Prophylactic surgery plus hyperthermic intraperitoneal chemotherapy (HIPEC CO2) versus standard surgery for gastric carcinoma at high risk of peritoneal carcinomatosis: short and long-term outcomes (GOETH STUDY)—a collaborative randomized controlled trial by ACOI, FONDAZIONE AIOM, SIC, SICE, and SICO
Authors: Di Giorgio A. , Gerardi C. , Abatini C. , Melotti G. , Bonavina L. , Torri V. , Santullo F. , Garattini S. , De Luca M. , Rulli Erica , Rulli Eliana , Pacelli F. ,   GOETH Investigators
Published: December 2022

Abstract

Introduction

At the time of diagnosis, 15–20% of gastric carcinomas are in stage T4 or T4b. Furthermore, 5–20% of patients undergoing potentially curative surgery suffer from synchronous or metachronous peritoneal metastases. To date, neither surgery nor systemic chemotherapy successfully controls peritoneal dissemination, offering a limited impact on survival. Peritoneal metastases are in fact responsible for death in around 60% of gastric cancer patients.
Several Eastern studies in the past have focused on hyperthermic intraperitoneal chemotherapy (HIPEC) as a prophylactic measure in patients with serosal extension, nodal involvement, and positive peritoneal fluid cytology. Therefore, a new multimodal therapeutic strategy based on aggressive surgery plus new locoregional treatment may prolong survival in this particular clinical scenario.

Methods
This study compares the efficacy of prophylactic surgery (radical gastric resection, appendectomy, resection of the round ligament of the liver, and bilateral adnexectomy) plus hybrid CO2 HIPEC system versus standard surgery in patients with T3-T4 N0-N + gastric adenocarcinoma. Patients will be randomly assigned (1:1 ratio) to the experimental arm or standard surgery. The primary endpoint is to establish the difference in disease-free survival between the groups. The secondary objective is to compare the safety and tolerability of prophylactic surgery plus HIPEC CO2 versus standard surgery.

Discussion
Considering the poor prognosis of patients with peritoneal dissemination from gastric cancer, a prophylactic strategy to prevent peritoneal metastases may be beneficial. In patients with gastric cancer at high risk of peritoneal carcinomatosis, we propose aggressive surgical treatment with radical gastrectomy, removal of organs at risk of harbouring tumour cells, and HIPEC.

Trial registration
ClinicalTrials.gov NCT03917173. Registered on 16 April 2019.
Protocol version: v1, March 27, 2019.
Protocol number: IRFMN-GCC-7813.
EudraCT number: 2019–001478-27.
An explorative epigenome-wide association study of plasma renin and aldosterone concentration in a Ghanaian population: the RODAM study
Authors: van der Linden Eva L. , Halley Adrienne , Meeks Karlijn A. C. , Chilunga Felix , Hayfron-Benjamin Charles , Venema Andrea , Garrelds Ingrid M. , Danser A. H. Jan , van den Born Bert-Jan , Henneman Peter , Agyemang Charles 
Published: December 2022

Abstract
Background
The epigenetic regulation of the renin–angiotensin–aldosterone system (RAAS) potentially plays a role in the pathophysiology underlying the high burden of hypertension in sub-Saharan Africans (SSA). Here we report the first epigenome-wide association study (EWAS) of plasma renin and aldosterone concentrations and the aldosterone-to-renin ratio (ARR).

Methods
Epigenome-wide DNA methylation was measured using the Illumina 450K array on whole blood samples of 68 Ghanaians. Differentially methylated positions (DMPs) were assessed for plasma renin concentration, aldosterone, and ARR using linear regression models adjusted for age, sex, body mass index, diabetes mellitus, hypertension, and technical covariates. Additionally, we extracted methylation loci previously associated with hypertension, kidney function, or that were annotated to RAAS-related genes and associated these with renin and aldosterone concentration.

Results
We identified one DMP for renin, ten DMPs for aldosterone, and one DMP associated with ARR. Top DMPs were annotated to the PTPRN2, SKIL, and KCNT1 genes, which have been reported in relation to cardiometabolic risk factors, atherosclerosis, and sodium-potassium handling. Moreover, EWAS loci previously associated with hypertension, kidney function, or RAAS-related genes were also associated with renin, aldosterone, and ARR.

Conclusion
In this first EWAS on RAAS hormones, we identified DMPs associated with renin, aldosterone, and ARR in a SSA population. These findings are a first step in understanding the role of DNA methylation in regulation of the RAAS in general and in a SSA population specifically. Replication and translational studies are needed to establish the role of these DMPs in the hypertension burden in SSA populations.
Rehabilitation in the long-term care insurance domain: a scoping review
Authors: Shinohara Hiroshi , Mikami Yukio , Kuroda Rumi , Asaeda Makoto , Kawasaki Takashi , Kouda Ken , Nishimura Yukihide , Ohkawa Hiroyuki , Uenishi Hiroyasu , Shimokawa Toshio , Mikami Yasuo , Tajima Fumihiro , Kubo Toshikazu 
Published: December 2022

Abstract
Purpose
Since the enactment of the long-term care insurance (LTCI) act in 2000, the number of LTCI users has increased annually. However, evidence regarding what is being carried out as rehabilitation treatment under LTCI is lacking. In this study, a scoping review was performed to bridge this knowledge gap.

Methods
Articles related to rehabilitation in connection with LTCI published between April 2000 and November 2020 were searched for in PubMed, CINAHL, CENTRAL (Cochrane Central Register of Controlled Trials), Ichushi Web Ver.5, and CiNii and randomized controlled trials (RCTs) of rehabilitation provided under LTCI were examined.

Results
Of the 15,572 publications identified, 15 RCTs, including rehabilitation treatment by physiatrists and therapists, met the eligibility criteria of our review and were included. The rehabilitation trials in the 15 RCTs varied and included balance training, exercise therapy, cognitive tasks, and activities such as singing and dancing. The results allowed us to focus on three categories: fall prevention, dementia, and theory and tools interventions related to occupational therapy practice.

Conclusion
The focal points of attention in the rehabilitation treatment of LTCI were identified. However, the physical function, quality of life, and activities of daily living (ADL) of those who “need support” vary from person to person. Therefore, the consolidation of evidence on rehabilitation treatment of LTCI must be continued.
The Systematic Review Toolbox: keeping up to date with tools to support evidence synthesis
Authors: Johnson Eugenie Evelynne , O’Keefe Hannah , Sutton Anthea , Marshall Christopher 
Published: December 2022

Abstract
Background
The Systematic Review (SR) Toolbox was developed in 2014 to collate tools that can be used to support the systematic review process. Since its inception, the breadth of evidence synthesis methodologies has expanded greatly. This work describes the process of updating the SR Toolbox in 2022 to reflect these changes in evidence synthesis methodology. We also briefly analysed included tools and guidance to identify any potential gaps in what is currently available to researchers.

Methods
We manually extracted all guidance and software tools contained within the SR Toolbox in February 2022. A single reviewer, with a second checking a proportion, extracted and analysed information from records contained within the SR Toolbox using Microsoft Excel. Using this spreadsheet and Microsoft Access, the SR Toolbox was updated to reflect expansion of evidence synthesis methodologies and brief analysis conducted.

Results
The updated version of the SR Toolbox was launched on 13 May 2022, with 235 software tools and 112 guidance documents included. Regarding review families, most software tools (N = 223) and guidance documents (N = 78) were applicable to systematic reviews. However, there were fewer tools and guidance documents applicable to reviews of reviews (N = 66 and N = 22, respectively), while qualitative reviews were less served by guidance documents (N = 19). In terms of review production stages, most guidance documents surrounded quality assessment (N = 70), while software tools related to searching and synthesis (N = 84 and N = 82, respectively). There appears to be a paucity of tools and guidance relating to stakeholder engagement (N = 2 and N = 3, respectively).

Conclusions
The SR Toolbox provides a platform for those undertaking evidence syntheses to locate guidance and software tools to support different aspects of the review process across multiple review types. However, this work has also identified potential gaps in guidance and software that could inform future research.