bluuebunny/crossref_metadata_2025_split huggingface dataset:
Actions to prevent and identify fetal alcohol spectrum disorders to be implemented in general practice: a consensus
Authors: Leruste Sébastien , Pouilley-Bax Alice , Doray Bérénice , Maillard Thierry , Monin Frédérick , Loubaresse Coralie , Marimoutou Catherine , Spodenkiewicz Michel 
Published: February 2024

IntroductionFetal alcohol exposure is the most common preventable cause of non-genetic intellectual disability. Fetal Alcohol Syndrome (FAS) is characterized by intellectual disability and distinctive facial features and affects 0.1% of live births, representing approximately 800 cases per year in France. Fetal Alcohol Spectrum Disorder (FASD) are 10 times more common than FAS, with an estimated 8,000 cases per year, and are associated with behavioral and social maladjustment in both children and adults, as well as various malformations. General practitioners play a key role in preventing and identifying FASD through their involvement in pregnancy and child monitoring.MethodsQualitative study using the Delphi method. Items were developed from the literature and semi-structured interviews with field professionals and health institutions. A panel of multi-professional experts, mostly general practitioners, was recruited.Results24 initial actions were submitted to the experts. At the end of the first round, six actions reached a consensus and six were reformulated for the second round. At the end of the second round, three actions reached a consensus, for a total of 11 consensus actions. Four of these actions seem particularly relevant for rapid implementation, namely systematic proposal of pre-conceptional consultations for women planning pregnancy, systematic identification of environmental factors during child monitoring, systematic distribution of information on fetal alcohol exposure during pre-conception or early pregnancy, and the publication of a leaflet for general practitioners on the identification of children with FAS or FASD and the contact details of relevant associations.ConclusionPrevention and identification of FASD can be improved through short and general training supports for general practitioners. Early screening of FASD is crucial for children, and should be maintained throughout their monitoring. This study could be used for communication and dissemination of information based on the consensus obtained.
Virus sequencing performance during the SARS-CoV-2 pandemic: a retrospective analysis of data from multiple rounds of external quality assessment in Austria
Authors: Camp Jeremy V. , Puchhammer-Stöckl Elisabeth , Aberle Stephan W. , Buchta Christoph 
Published: February 2024

Introduction: A notable feature of the 2019 coronavirus disease (COVID-19) pandemic was the widespread use of whole genome sequencing (WGS) to monitor severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections. Countries around the world relied on sequencing and other forms of variant detection to perform contact tracing and monitor changes in the virus genome, in the hopes that epidemic waves caused by variants would be detected and managed earlier. As sequencing was encouraged and rewarded by the government in Austria, but represented a new technicque for many laboratories, we designed an external quality assessment (EQA) scheme to monitor the accuracy of WGS and assist laboratories in validating their methods.Methods: We implemented SARS-CoV-2 WGS EQAs in Austria and report the results from 7 participants over 5 rounds from February 2021 until June 2023. The participants received sample material, sequenced genomes with routine methods, and provided the sequences as well as information about mutations and lineages. Participants were evaluated on the completeness and accuracy of the submitted sequence and the ability to analyze and interpret sequencing data.Results: The results indicate that performance was excellent with few exceptions, and these exceptions showed improvement over time. We extend our findings to infer that most publicly available sequences are accurate within ≤1 nucleotide, somewhat randomly distributed through the genome.Conclusion: WGS continues to be used for SARS-CoV-2 surveillance, and will likely be instrumental in future outbreak scenarios. We identified hurdles in building next-generation sequencing capacity in diagnostic laboratories. EQAs will help individual laboratories maintain high quality next-generation sequencing output, and strengthen variant monitoring and molecular epidemiology efforts.
Potential role of APOE ɛ4 allele as a modifier for the association of BDNF Val66Met polymorphisms and cognitive impairment in community-dwelling older adults
Authors: Ji Shaozhen , Kang Jia , Han Chao , Xu Xitong , Chen Meijie , Chen Jie , Chhetri Jagadish K , Pan Jing , Chan Piu 
Published: February 2024

ObjectiveTo determine whether the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism is associated with cognitive impairment (CI) in community-dwelling Chinese older adults, and to investigate whether this relationship is modified by the Apolipoprotein E (APOE) ɛ4 allele.MethodsThe study is a secondary analysis of 703 participants aged ≥60 years randomly enrolled from the Beijing Longitudinal Study of Aging II prospective cohort. The education-adjusted Mini-Mental State Examination and the Clinical Dementia Rating Scale were used to measure the cognitive performance of the subjects. The main effects and interactions (additive and multiplicative) of the BDNF Met and the APOE ε4 alleles on CI were estimated by logistic regression models.ResultsIn total, 84 out of 703 older adults aged ≥60 years old had CI. No significant difference was observed in the risk of CI between participants with the BDNF Met allele and that of subjects without the BDNF Met allele (p = 0.213; p = 0.164). Individuals carrying both the BDNF Met and APOE ε4 alleles had an almost 1.5-fold increased odds of CI compared with carriers of the BDNF Met allele but without the APOE ε4 allele. The additive association indicated a positive interaction of both BDNF Met and APOE ε4 alleles with wide CIs (p = 0.021; p = 0.018).ConclusionThe results suggest that the APOE ε4 allele may be a potential modifier for the association of the BDNF Val66Met polymorphism with CI in community-dwelling older adults.
Advances in balance training to prevent falls in stroke patients: a scoping review
Authors: Chen Kehan , Zhu Siyi , Tang Yidan , Lan Fuxia , Liu Zuoyan 
Published: February 2024

ObjectiveTo summarize the status and characteristics of the available evidence, research gaps, and future research priorities for preventing falls in stroke patients through balance training.MethodsWe used a scoping review framework. A systematic search of PUBMED, Embase, and Cochrane databases for main articles was conducted. Our study only included articles that on balance training and fall-related indicators in stroke patients. Two researchers independently screened the literature according to the inclusion and exclusion criteria. The data of demographic, clinical characteristics, intervention, sample, and outcome indicators were extracted. The characteristics and limitations of the included literature were comprehensively analyzed.ResultsOf the 1,058 studies, 31 were included. The methods of balance training include regular balance training, Tai Chi, Yoga, task balance training, visual balance training, multisensory training, aquatic balance training, perturbation-based balance training, cognitive balance training, system-based balance training, and robot-assisted balance training. The commonly used outcome measures include clinical balance test, such as Berg balance scale (BBS), Timed Up-and-Go Test (TUG), Fall Risk Index assessment (FRI), Fall Efficacy Scale score (FES), and instrumented balance tests.ConclusionThis scoping review summarizes the existing primary research on preventing falls in stroke patients by balance training. Based on the summary of the existing evidence, the characteristics of balance training and their relation to falls in stroke patients were found. The future researches should explore how to develop personalized training program, the sound combination of various balance training, to more effectively prevent falls.
Unlocking the neural mechanisms of consumer loan evaluations: an fNIRS and ML-based consumer neuroscience study
Authors: Çakar Tuna , Son-Turan Semen , Girişken Yener , Sayar Alperen , Ertuğrul Seyit , Filiz Gözde , Tuna Esin 
Published: February 2024

IntroductionThis study conducts a comprehensive exploration of the neurocognitive processes underlying consumer credit decision-making using cutting-edge techniques from neuroscience and machine learning (ML). Employing functional Near-Infrared Spectroscopy (fNIRS), the research examines the hemodynamic responses of participants while evaluating diverse credit offers.MethodsThe experimental phase of this study investigates the hemodynamic responses collected from 39 healthy participants with respect to different loan offers. This study integrates fNIRS data with advanced ML algorithms, specifically Extreme Gradient Boosting, CatBoost, Extra Tree Classifier, and Light Gradient Boosted Machine, to predict participants’ credit decisions based on prefrontal cortex (PFC) activation patterns.ResultsFindings reveal distinctive PFC regions correlating with credit behaviors, including the dorsolateral prefrontal cortex (dlPFC) associated with strategic decision-making, the orbitofrontal cortex (OFC) linked to emotional valuations, and the ventromedial prefrontal cortex (vmPFC) reflecting brand integration and reward processing. Notably, the right dorsomedial prefrontal cortex (dmPFC) and the right vmPFC contribute to positive credit preferences.DiscussionThis interdisciplinary approach bridges neuroscience, machine learning and finance, offering unprecedented insights into the neural mechanisms guiding financial choices regarding different loan offers. The study’s predictive model holds promise for refining financial services and illuminating human financial behavior within the burgeoning field of neurofinance. The work exemplifies the potential of interdisciplinary research to enhance our understanding of human financial decision-making.
Examining resting state functional connectivity and frequency power analysis in adults who stutter compared to adults who do not stutter
Authors: Valaei Atefeh , Bamdad Sobhan , Golfam Arsalan , Golmohammadi Golnoosh , Ameri Hayat , Raoufy Mohammad Reza 
Published: February 2024

IntroductionStuttering is a speech disorder characterized by impaired connections between brain regions involved in speech production. This study aimed to investigate functional connectivity and frequency power during rest in adults who stutter (AWS) compared to fluent adults (AWNS) in the dorsolateral prefrontal cortex (DLPFC), dorsolateral frontal cortex (DLFC), supplementary motor area (SMA), motor speech, angular gyrus (AG), and inferior temporal gyrus (ITG).Materials and methodsFifteen AWS (3 females, 12 males) and fifteen age- and sex-matched AWNS (3 females, 12 males) participated in this study. All participants were native Persian speakers. Stuttering severity in the AWS group was assessed using the Persian version of the Stuttering Severity Instrument Fourth Edition (SSI-4). Resting-state electroencephalography (EEG) was recorded for 5 min while participants sat comfortably with their eyes open. We analyzed frequency band power across various frequency bands and investigated functional connectivity within the specified speech region.ResultsSignificant between-group differences were found in band powers including alpha, beta, delta, theta, and gamma, specifically in the premotor, SMA, motor speech, and frontal regions. AWS also showed increased coherence between the right motor speech region compared to controls. We demonstrate that the proposed hierarchical false discovery rate (FDR) method is the most effective for both simulations and experimental data. In the expected regions, this method revealed significant synchrony effects at an acceptable error rate of 5%.ConclusionThe results highlight disrupted functional connectivity in AWS at resting state, particularly in speech-related and associated areas. Given the complex neurological basis of developmental stuttering, robust neural markers are closely linked to this phenomenon. These markers include imbalanced activity within brain regions associated with speech and motor functions, coupled with impaired functional connectivity between these regions. The cortico-basal ganglia-thalamo-cortical system governs the dynamic interplay between cortical regions, with SMA as a key cortical site. It is hypothesized that the aberrant resting state functional connectivity will impact the language planning and motor execution necessary for fluent speech. Examining resting-state metrics as biomarkers could further elucidate the neural underpinnings of stuttering and guide intervention.
Optimization of treatment strategies based on preoperative imaging features and local recurrence areas for locally advanced lower rectal cancer after lateral pelvic lymph node dissection
Authors: Xu Zhao , Bao Mandula , Cai Qiang , Wang Qian , Xing Wei , Liu Qian 
Published: February 2024

PurposeLocal recurrence (LR) is the main cause of treatment failure in locally advanced lower rectal cancer (LALRC). This study evaluated the preoperative risk factors for LR in patients with LALRC to improve the therapeutic strategies.Patients and MethodsLALRC patients who underwent total mesorectal excision (TME) with lateral pelvic lymph node (LPN) dissection (LPND) from January 2012 to December 2019 were reviewed. The log-rank test was used to assess local recurrence-free survival (LRFS), and multivariate Cox regression was used to identify the prognostic risk factors for LRFS. Follow-up imaging data were used to classify LR according to the location.ResultsOverall, 376 patients were enrolled, and 8.8% (n=33) of these patients developed LR after surgery. Multivariate analysis identified positive clinical circumferential resection margin (cCRM) as an independent prognostic factor for LRFS (HR: 4.94; 95% CI, 1.75-13.94; P=0.003). The most common sites for LR were the pelvic plexus and internal iliac area (PIA) (54.5%), followed by the central pelvic area (CPA) (39.4%) and obturator area (OA) (6.1%). Following a subgroup analysis, LR in the OA was not associated with positive cCRM. Patients treated with upfront surgery (n=35, 14.1%) had a lower cCRM positive rate when compared with patients treated with neoadjuvant chemoradiotherapy (nCRT) (n=12, 23.5%). However, the LR rate in the nCRT group was still lower (n=28, 36.4%) than that in the upfront surgery group (n=35, 14.%). Among patients with positive cCRM, the LR rate in patients with nCRT remained low (n=3, 10.7%).ConclusionPositive cCRM is an independent risk factor for LR after TME plus LPND in LALRC patients. LPND is effective and adequate for local control within the OA regardless of cCRM status. However, for LALRC patients with positive cCRM, nCRT should be considered before LPND to further reduce LR in the PIA and CPA.
Loss of symbiotic and increase of virulent bacteria through microbial networks in Lynch syndrome colon carcinogenesis
Authors: Sadeghi Mohammad , Mestivier Denis , Carbonnelle Etienne , Benamouzig Robert , Khazaie Khashayarsha , Sobhani Iradj 
Published: February 2024

PurposeThrough a pilot study, we performed whole gut metagenomic analysis in 17 Lynch syndrome (LS) families, including colorectal cancer (CRC) patients and their healthy first-degree relatives. In a second asymptomatic LS cohort (n=150) undergoing colonoscopy-screening program, individuals with early precancerous lesions were compared to those with a normal colonoscopy. Since bacteria are organized into different networks within the microbiota, we compared related network structures in patients and controls.Experimental designFecal prokaryote DNA was extracted prior to colonoscopy for whole metagenome (n=34, pilot study) or 16s rRNA sequencing (validation study). We characterized bacteria taxonomy using Diamond/MEGAN6 and DADA2 pipelines and performed differential abundances using Shaman website. We constructed networks using SparCC inference tools and validated the construction’s accuracy by performing qPCR on selected bacteria.ResultsSignificant differences in bacterial communities in LS-CRC patients were identified, with an enrichment of virulent bacteria and a depletion of symbionts compared to their first-degree relatives. Bacteria taxa in LS asymptomatic individuals with colonic precancerous lesions (n=79) were significantly different compared to healthy individuals (n=71). The main bacterial network structures, constructed based on bacteria-bacteria correlations in CRC (pilot study) and in asymptomatic precancerous patients (validation-study), showed a different pattern than in controls. It was characterized by virulent/symbiotic co-exclusion in both studies and illustrated (validation study) by a higher Escherichia/Bifidobacterium ratio, as assessed by qPCR.ConclusionEnhanced fecal virulent/symbiotic bacteria ratios influence bacterial network structures. As an early event in colon carcinogenesis, these ratios can be used to identify asymptomatic LS individual with a higher risk of CRC.
TGFβ level in healthy and children with Marfan syndrome—effective reduction under sartan therapy
Authors: Stark Veronika C. , Olfe Jakob , Diaz-Gil Daniel , von Kodolitsch Yskert , Kozlik-Feldmann Rainer , Reincke Johannes , Stark Maria , Wiegand Peter , Zeller Tanja , Mir Thomas S. 
Published: February 2024

IntroductionTransforming growth factor β (TGFβ) metabolism plays an important role in the pathogenesis of Marfan syndrome (MFS). Accordingly, drug therapy uses TGFβ receptor blockade to slow down the cardiovascular manifestations, above all aortic root dilatation. Angiotensin II type 1 receptor blockers (ARBs) have been shown to reduce TGFβ levels in adults. Data on childhood are lacking and are now being investigated in the TiGer For Kids study presented here.MethodsWe examined 125 children without chronic disease and 31 pediatric Marfan patients with a proven FBN1 variant with regard to TGFβ levels. In addition, we measured TGFβ levels during the initiation of ARB therapy in pediatric Marfan patients.ResultsIn children without chronic disease, TGFβ levels were found to decrease from childhood to adolescence (p &lt; 0.0125). We could not measure a relevantly increased TGFβ level in pediatric Marfan patients. However, we showed a significant suppression of the TGFβ level after treatment with ARBs (p &lt; 0.0125) and a renewed increase shortly before the next dose.DiscussionThe TGFβ level in childhood changes in an age-dependent manner and decreases with age. The TGFβ level drops significantly after taking ARBs. Based on our experience and data, a TGFβ receptor blockade in childhood seems reasonable. So far, TGFβ level cannot be used as an MFS screening biomarker.
Core and bridge symptoms of demoralization in Chinese female cancer patients: a network analysis
Authors: Gong Yijing , Shang Bin , Tan Jianing , Luo Caifeng , Bian Zekun , Wu Xiaoxiang , Fan Tingting , Zhao Qian , Liu Lili , Sun Weiyi 
Published: February 2024

ObjectiveIn this study, we explore the core and bridge symptoms of demoralization in female cancer patients in China, and provide a basis for precise psychological intervention among female cancer patients.MethodsThis study used a cross-sectional survey. Participants were recruited from three third-class hospitals in Jiangsu Province from June 2022 to June 2023 using the convenience sampling method. The severity of each symptom of demoralization was investigated in female cancer patients using the Demoralization Scale (DS). Network analysis was performed using the R language to identify core and bridge symptoms in the network and further explore some characteristic edge connections in the network.ResultsThe network structure model of demoralization had strong accuracy and stability. In the network, the symptoms with the highest strength centrality were “Discouragement” (C3, strength=2.19), “No self-worth” (A3, strength=1.21), “Don’t want to live” (A5, strength=1.20), “Hopeless” (D4, strength=0.81), and “Vulnerability” (B3, strength=0.74), respectively. The bridge strength analysis identified “Hopeless” (D4, bridge strength=0.92), “Discouragement” (C3, bridge strength=0.85), “No self-worth” (A3, bridge strength=0.75), “Poor spirits” (E2, bridge strength=0.71), and “Vulnerability” (B3, bridge strength=0.69) as the bridge symptoms. The strongest edge connections of all dimensions were “No self-worth” and “Worthless” (A3—E6, edge weighting=0.27), “Poor spirits” and “Loss of emotional control” (E2—D1, edge weighting=0.22), “Discouragement” and “Vulnerability” (C3—B3, edge weighting=0.14), and “Hopeless” and “No meaning of survival” (D4—A4, edge weighting=0.12).Conclusion“Discouragement (C3)”, “No self-worth (A3)”, “Hopeless (D4)”, and “Vulnerability (B3)” are both core symptoms and bridge symptoms. These symptoms can not only trigger a patient’s demoralization but also stimulate more severe symptom clusters through interactions. The early recognition of and intervention regarding these symptoms could be important for the prevention and treatment of demoralization among female cancer patients.
The context of COVID-19 affected the long-term sleep quality of older adults more than SARS-CoV-2 infection
Authors: Peixoto Vanessa Giffoni M. N. P. , Facci Lucas Alves , Barbalho Thiago C. S. , Souza Raíssa Nascimento , Duarte Alice Mendes , Almondes Katie Moraes 
Published: February 2024

IntroductionSleep problems are one of the most persistent symptoms of post-COVID syndrome in adults. However, most recent research on sleep quality has relied on the impact of the pandemic, with scarcely any data for older adults on the long-term consequences of COVID infection. This study aims to understand whether older individuals present persistently impaired sleep quality after COVID-19 infection and possible moderators for this outcome.MethodsThis is a cross-sectional analysis of a longitudinal cohort study with 70 elders with 6-month-previous SARS-CoV-2 infection and 153 controls. The Pittsburgh Sleep Quality Index (PSQI) was used to assess sleep quality; Geriatric Depression Scale and Geriatric Anxiety Inventory for screening depression and anxiety. Demographics and comorbid conditions were collected.ResultsThe mean age of participants was 66,97 ± 4,64 years. There were no statistical differences in depression and anxiety between groups. Poor sleep quality was found in 52,9% and 43,8% of the COVID and control groups (p=.208). After controlling for multiple variables, all the following factors resulted in greater chances of poor sleep quality: female gender (OR, 2.12; p=.027), memory complaints (OR, 2.49; p=.074), insomnia (OR, 3.66; p=.032), anxiety (OR, 5.46; p&lt;.001), depression (OR, 7.26; p=.001), joint disease (OR, 1.80; p=.050), glucose intolerance (OR, 2.20; p=.045), psychoactive drugs (OR, 8.36; p&lt;.001), diuretics (OR, 2.46; p=.034), and polypharmacy (OR, 2.84; p=.016).ConclusionPsychosocial burden in the context of the COVID-19 pandemic and pre-existing conditions seems to influence the sleep quality of older adults more than SARS-CoV-2 infection.