bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of the association of ANO3/MUC15, COL4A4, RRBP1, and KLK1 polymorphisms with COPD susceptibility in the Kashi population
Authors: Tang Lifeng , Zhong Xuemei , Gong Hui , Tuerxun Maimaitiaili , Ma Tao , Ren Jie , Xie Chengxin , Zheng Aifang , Abudureheman Zulipikaer , Abudukadeer Ayiguzali , Aini Paierda , Yilamujiang Subinuer , Li Li 
Published: May 2022

Abstract
Objective
Chronic obstructive pulmonary disease (COPD) is a complex, multifactorial, polygenic disease. The rate of occurrence of COPD in the Kashi population (Uyghur) is significantly higher than that observed nationwide. The identification of COPD-related genes in the Chinese Uyghur population could provide useful insights that could help us understand this phenomenon. Our previous whole-exome sequencing study of three Uyghur families with COPD demonstrated that 72 mutations in 55 genes might be associated with COPD; these included rs15783G > A in the anoctamin 3 (ANO3) gene/mucin 15 (MUC15) gene, rs1800517G > A in the collagen type IV alpha 4 chain (COL4A4) gene, rs11960G > A in the ribosome binding protein 1 (RRBP1) gene, and rs5516C > G in the kallikrein 1 (KLK1) gene. This case–control study aimed to further validate the association of the four mutations with COPD in the Chinese Uyghur population.

Methods
Sanger sequencing was used for the genotyping of four polymorphisms (ANO3/MUC15 rs15783, COL4A4 rs1800517, RRBP1 rs11960, and KLK1 rs5516) in 541 unrelated Uyghur COPD patients and 534 Uyghur healthy controls. We then conducted stratified analyses based on the smoking status and airflow limitation severity, to explore the correlation between selected gene polymorphisms and COPD.

Results
ANO3/MUC15 rs15783 and KLK1 rs5516 polymorphisms could significantly reduce COPD risk (p < 0.05), but COL4A4 rs1800517 and RRBP1 rs11960 polymorphisms were not correlated with COPD in the entire population. In a stratified analysis of smoking status, non-smokers with the ANO3/MUC15 rs15783G/G genotype (OR = 0.63, p = 0.032) or COL4A4 rs1800517 allele G (OR = 0.80, p = 0.023) had a reduced risk of COPD. Smokers with the RRBP1 rs11960A/G genotype had a lower risk of COPD (OR = 0.41, p = 0.025). The KLK1 rs5516G > C polymorphism was associated with a decreased risk of COPD (OR < 1, p < 0.05), irrespective of the smoking status of individuals. No significant association with COPD severity was observed in individuals with these four polymorphisms (p > 0.05).

Conclusion
We identified four previously unreported mutations (ANO3/MUC15 rs15783, COL4A4 rs1800517, RRBP1 rs11960, and KLK1 rs5516) that might decrease the COPD risk in individuals with different smoking statuses in the Chinese Uyghur population. Our findings provide new light for the genetic risk factors associated with the occurrence of COPD.
Rotation scarf + Akin osteotomy for severe hallux valgus with a new evaluation index: distance between the first and second metatarsals
Authors: Xie Wenyong , Lu Hao , Li Guicheng , Yuan Yusong , Xu Hailin 
Published: May 2022

Abstract
Background
Although rotation scarf + Akin osteotomy has been described for correcting hallux valgus deformity, the treatment efficacy of rotation scarf + Akin osteotomy for severe hallux valgus should be further studied. The purpose of our study was to evaluate the outcomes of rotation scarf + Akin osteotomy on severe hallux valgus.

Methods
We conducted a retrospective study of patients with hallux valgus who underwent surgery using rotation scarf + Akin osteotomy in our hospital between June 2014 and January 2020. The parameters evaluated include (1) the hallux valgus angle (HVA), (2) intermetatarsal angle (IMA), (3) distal metatarsal articular angle (DMAA), (4) tibial sesamoid position (TSP), (5) the length of first metatarsal bone and (6) ratio between the vertical distance from the lateral of the first metatarsal head to the medial of the second metatarsal head and the vertical distance of lateral of the second metatarsal head to the medial of the third metatarsal head (MT-I to II/II to III distance). A visual analog scale (VAS) was used to evaluate the degree of pain before and at the last follow-up after the operation. The American Orthopaedic Foot & Ankle Society (AOFAS) Forefoot Score wasassessed before and at the last follow-up after the operation. Patient satisfaction assessment was also conducted at the time.

Results
All radiological parameters including, HVA, IMA, DMAA and TSP,, significantly improved (p < 0.001). The length of the first metatarsal was shortened 3.1 mm on average. The MT-I to II/II to III distance was also reduced to 1.8 after surgery and 3.3 before surgery. The VAS score and AOFAS score was also statistically significant before operation and at the last follow-up after the operation (p < 0.001). Forty-one (82%) feet in patients were very satisfied or satisfied.

Conclusion
Rotation scarf + Akin osteotomy is demonstrated to be safe, effective, and feasible for correcting severe hallux valgus. It can obtain good long-term correction with a low incidence of recurrence and metatarsalgia. Postoperative satisfaction and functional recovery of patients are significantly improved. The MT-I to II/II to III distance, a new evaluation indicator, can be better evaluate the correction of hallux valgus.
Single-stage arthroscopic-assisted treatment of anteromedial tibial plateau fracture with posterolateral corner injury: a retrospective study
Authors: Li Lingzhi , Li Yuan , He Yanwei , Deng Xiangtian , Zhou Peng , Li Jun , Jiang Hao , Li Zhong , Liu Juncai 
Published: May 2022

Abstract
Background
Anteromedial tibial plateau fracture with posterolateral corner (PLC) injury is a relatively rare combined injury in the clinic. In addition, there is no unified treatment scheme for this combined injury. The purpose of this study was to evaluate the clinical and imaging results of single-stage arthroscopic-assisted surgery for anteromedial tibial plateau fracture with PLC injury, and to explore the advantages of this surgical technique.

Method
In this retrospective study, a total of 9 patients (7 males and 2 females) were included, aged 24–64 years (average 40.7 years), treated in our Department of Orthopedics from January 2016 to January 2021. In the preoperative evaluations, there were 9 cases of anteromedial tibial plateau fractures with PLC injuries, 6 cases of concomitant PCL injuries, 6 cases of concomitant medial or lateral meniscus injuries, and 2 cases of concomitant fibular head avulsion fractures. All patients underwent single-stage arthroscopic-assisted surgery.

Results
All patients were followed up, and the average follow-up period was 15.2 months (range 12–18 months). The average operation time was 135.6 min (range 100–160 min), and the average surgical blood loss was 87.2 ml (range 60–110 ml). The anatomical reduction was achieved in 9 cases, and the anatomical reduction rate was 100%. The average fracture healing time was 13.1 weeks (range 12–16 weeks). At the last follow-up, the average VAS score was 1 (range 0–2); the average Lysholm function score was 90.7 (range 86–95), and the average IKDC score was 91.4 (range 88–95); the average knee extension angle of all patients was 0° and the average knee flexion angle was 128.3° (average 120–135°); The posterior drawer test, the Lachman test and the dial test were negative for all cases. None of the patients had operation-related complications.

Conclusion
Single-stage arthroscopy-assisted surgery in the treatment of anteromedial tibial plateau fracture with PLC injury can achieve good clinical outcomes, restore the stability of the knee joint, and reduce the risk of severe lower extremity dysfunction.
The efficacy of vitamin D supplementation for irritable bowel syndrome: a systematic review with meta-analysis
Authors: Huang Hangkai , Lu Linjie , Chen Yishu , Zeng Yan , Xu Chengfu 
Published: May 2022

Abstract
Background
Irritable bowel syndrome (IBS) is a chronic gastrointestinal disorder involving gut-brain interactions with limited effective treatment options. Vitamin D deficiency is commonly observed in patients with IBS, but whether vitamin D supplementation ameliorates IBS is controversial in randomized controlled trials. The present systematic review and meta-analysis explored the efficacy of vitamin D supplementation in patients with IBS.

Methods
We performed a systematic search of potentially relevant publications from PubMed, EMBASE, the Cochrane Central Register of Controlled Studies and the Web of Science up until January 2022. We assessed the weighted mean difference (WMD) and 95% confidence interval (95% CI) of the IBS severity scoring system (IBS-SSS), IBS quality of life (IBS-QoL) and IBS total score (IBS-TS) before and after vitamin D supplementation intervention.

Results
We included four randomized, placebo-controlled trials involving 335 participants. The differences in IBS-SSS score between participants in the intervention group and the placebo group increased after intervention (WMD: -55.55, 95% CI: -70.22 to -40.87, I2 = 53.7%, after intervention; WMD: -3.17, 95% CI: -18.15 to 11.81, I2 = 0.0%, before intervention). Participants receiving vitamin D supplementation showed greater improvement in IBS-SSS after intervention than participants receiving placebo treatment (WMD: -84.21, 95% CI: -111.38 to -57.05, I2 = 73.2%; WMD: -28.29, 95% CI: -49.95 to -6.62, I2 = 46.6%, respectively). Vitamin D supplementation was also superior to placebo in IBS-QoL improvement (WMD: 14.98, 95% CI: 12.06 to 17.90, I2 = 0.0%; WMD: 6.55, 95% CI: -2.23 to 15.33, I2 = 82.7%, respectively). Sensitivity analyses revealed an unstable pooled effect on IBS-TS in participants receiving vitamin D supplementation. Therefore, we did not evaluate the efficacy of vitamin D intervention in IBS-TS.

Conclusions
This systematic review and meta-analysis suggested that vitamin D supplementation was superior to placebo for IBS treatment.
Psychological status and physical performance are independently associated with autonomic function
Authors: Shahimi Nur Husna , Goh Choon-Hian , Mat Sumaiyah , Lim Renly , Koh Vivian Ci Ai , Nyman Samuel R. , Tan Maw Pin , Lim Einly 
Published: May 2022

Abstract
Background
Falls among older adults have become a global concern. While previous studies have established associations between autonomic function indicator; heart rate variability (HRV) and blood pressure variability (BPV) with fall recurrence, as well as physical inactivity and psychological disorders as risk factors for falls, the influence of physical activity and psychological status on autonomic dysfunction observed among older fallers has not been adequately investigated. The aim of this study was to evaluate the relationship between psychological disorder and physical performance on the autonomic nervous system (ANS) in older fallers. We hypothesised that older fallers have poorer autonomic function, greater dependency on others and were associated with psychological disorders. Furthermore, we hypothesised that both physical performance and psychological status can contribute to the worsening of the autonomic function among the elderly.

Methods
In this cross-sectional survey, adults aged ≥ 60 years were recruited. Continuous non-invasive BP was monitored over 5 min of supine and 3 min of standing. Psychological status was assessed in terms of depression, anxiety, stress, and concern about falling, while functional status was measured using time-up-and-go, functional reach, handgrip and Lawton’s Instrumental Activities of Daily Life (IADL) scale.

Results
A total of 62 participants were recruited consisting of 37 fallers and 25 non-fallers. Multivariate analysis revealed that Lawton IADL was independently associated with systolic blood pressure variability (SBPV) and diastolic blood pressure variability (DBPV) during both supine (SBPV: r2 = 0.080, p = 0.025; DBPV: r2 = 0.064, p = 0.046) and standing (SBPV: r2 = 0.112, p = 0.008; DBPV: r2 = 0.105, p = 0.011), while anxiety score was independently associated with SBPV and DBPV during standing (SBPV: r2 = 0.112, p = 0.009; DBPV: r2 = 0.105, p = 0.011) as compared to the other parameters.

Conclusion
Our findings suggest that fallers had poorer ANS, greater dependence in IADLs, and were more anxious. IADL dependency and anxiety were the most predictive of autonomic dysfunction, and can be used in practice to identify poor autonomic function for the prevention of falls and cardiovascular diseases among older adults.
Oligodendroglia-derived extracellular vesicles activate autophagy via LC3B/BAG3 to protect against oxidative stress with an enhanced effect for HSPB8 enriched vesicles
Authors: Van den Broek Bram , Wuyts Charlotte , Sisto Angela , Pintelon Isabel , Timmermans Jean-Pierre , Somers Veerle , Timmerman Vincent , Hellings Niels , Irobi Joy 
Published: May 2022

Abstract
Background
The contribution of native or modified oligodendroglia-derived extracellular vesicles (OL-EVs) in controlling chronic inflammation is poorly understood. In activated microglia, OL-EVs contribute to the removal of cytotoxic proteins following a proteotoxic stress. Intracellular small heat shock protein B8 (HSPB8) sustain this function by facilitating autophagy and protecting cells against oxidative stress mediated cell death. Therefore, secretion of HSPB8 in OL-EVs could be beneficial for neurons during chronic inflammation. However, how secreted HSPB8 contribute to cellular proteostasis remains to be elucidated.

Methods
We produced oligodendroglia-derived EVs, either native (OL-EVs) or HSPB8 modified (OL-HSPB8-EVs), to investigate their effects in controlling chronic inflammation and cellular homeostasis. We analyzed the impact of both EV subsets on either a resting or activated microglial cell line and on primary mixed neural cell culture cells. Cells were activated by stimulating with either tumor necrosis factor-alpha and interleukin 1-beta or with phorbol-12-myristate-13-acetate.

Results
We show that OL-EVs and modified OL-HSPB8-EVs are internalized by C20 microglia and by primary mixed neural cells. The cellular uptake of OL-HSPB8-EVs increases the endogenous HSPB8 mRNA expression. Consistently, our results revealed that both EV subsets maintained cellular homeostasis during chronic inflammation with an increase in the formation of autophagic vesicles. Both EV subsets conveyed LC3B-II and BAG3 autophagy markers with an enhanced effect observed for OL-HSPB8-EVs. Moreover, stimulation with either native or modified OL-HSPB8-EVs showed a significant reduction in ubiquitinated protein, reactive oxygen species and mitochondrial depolarization, with OL-HSPB8-EVs exhibiting a more protective effect. Both EV subsets did not induce cell death in the C20 microglia cell line or the primary mixed neural cultures.

Conclusion
We demonstrate that the functions of oligodendroglia secreted EVs enriched with HSPB8 have a supportive role, comparable to the native OL-EVs. Further development of engineered oligodendroglia derived EVs could be a novel therapeutic strategy in countering chronic inflammation.
A risk score system based on a six-microRNA signature predicts the overall survival of patients with ovarian cancer
Authors: Zhou Min , Wu Tao , Yuan Yuan , Dong Shu-Juan , Zhang Zhi-Ming , Wang Yan , Wang Jing 
Published: May 2022

AbstractBackgroundOvarian cancer (OVC) is a devastating disease worldwide; therefore the identification of prognostic biomarkers is urgently needed. We aimed to determine a robust microRNA signature-based risk score system that could predict the overall survival (OS) of patients with OVC.MethodsWe extracted the microRNA expression profiles and corresponding clinical data of 467 OVC patients from The Cancer Genome Atlas (TCGA) database and further divided this data into training, validation and complete cohorts. The key prognostic microRNAs for OVC were identified and evaluated by robust likelihood-based survival analysis (RLSA) and multivariable Cox regression. Time-dependent receiver operating characteristic (ROC) curves were then constructed to evaluate the prognostic performance of these microRNAs. A total of 172 ovarian cancer samples and 162 normal ovarian tissues were used to verify the credibility and accuracy of the selected markers of the TCGA cohort by quantitative real-time polymerase chain reaction (PCR).ResultsWe successfully established a risk score system based on a six-microRNA signature (hsa-miR-3074-5p, hsa-miR-758-3p, hsa-miR-877-5p, hsa-miR-760, hsa-miR-342-5p, and hsa-miR-6509-5p). This microRNA based system is able to characterize patients as either high or low risk. The OS of OVC patients, with either high or low risk, was significantly different when compared in the training cohort (p < 0.001), the validation cohort (p < 0.001) and the complete cohort (p < 0.001). Analysis of clinical samples further demonstrated that these microRNAs were aberrantly expressed in OVC tissues. The six-miRNA-based signature was correlated with the prognosis of OVC patients (p < 0.001).ConclusionsThe study established a novel risk score system that is predictive of patient prognosis and is a potentially useful guide for the personalized treatment of OVC patients.
Individualised computerised cognitive training for community-dwelling people with mild cognitive impairment: study protocol of a completely virtual, randomised, controlled trial
Authors: Book Stephanie , Jank Michael , Pendergrass Anna , Graessel Elmar 
Published: May 2022

Abstract
Background
People with mild cognitive impairment (MCI) are at increased risk of converting to dementia. Cognitive training can improve the cognitive abilities of people with MCI. Computerised cognitive training (CCT) offers several advantages over traditional paper-and-pencil cognitive training and has the potential to be more individualised by matching task difficulty with individual performance. Recent systematic reviews have reported promising effects of CCT on improving the cognitive capacities of people with MCI. However, the quality of existing studies has been limited, and it is still unclear whether CCT can influence the progression to dementia. We developed an ‘individualised’ CCT (MAKSCog) specialised for people with MCI that automatically matches task difficulty with individual performance and an active control training (‘basic’ CCT). The aims of the present study are (a) to evaluate MAKSCog and (b) to investigate whether it can be applied to maintain the cognitive abilities of people with MCI.

Methods
The present study investigates the effects of CCT on cognition in a randomised controlled intervention study in Germany. Participants are community-dwelling people with a psychometric diagnosis of MCI based on the Montreal Cognitive Assessment (MoCA) and Mini-Mental Status Test (MMSE). Screening and baseline testing are conducted via a videoconferencing assessment and telephone. Participants are randomly allocated. The treatment phase is 6 months with an open phase in which participants can freely decide to continue to use the CCTs. Additionally, both CCTs contain a monthly computerised cognitive assessment that measures different cognitive abilities: information processing speed, memory span, short term memory, and logical reasoning.

Discussion
This is the first study to investigate the effect of MAKSCog, an individualised CCT, specifically developed for people with different subtypes of MCI. A methodological strength is the double-blind, randomised, controlled design and the use of basic CCT as an active control group. The study is conducted entirely virtually with valid telehealth assessments for cognitive function. Methodological limitations might include a restriction to participants who feel comfortable with the use of technology and who own a computer, laptop, or tablet.

Trial registration
ISRCTN ISRCTN14437015. Prospectively registered on 27 February 2020.
Cystinosis and two rare mutations in CTNS gene: two case reports
Authors: Gholami Yarahmadi Sepideh , Sarlaki Fatemeh , Morovvati Saeid 
Published: May 2022

Abstract
Background
Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport. The responsible gene, Cystinosin, Lysosomal Cystine Transporter (CTNS), encodes the lysosomal cystine carrier cystinosin.

Case presentation
In this case report, we reviewed the genetic basis of cystinosis and investigated two Iranian cases affected by cystinosis, one of which revealed a rare mutation in the CTNS gene. Two patients, 9-year-old (patient A) and 11-year-old (patient B) symptomatic Iranian females with renal insufficiency, were diagnosed with cystinosis on the basis of their clinical features and laboratory tests. After genetic counseling, blood samples were obtained from the patients and their parents. Genomic Deoxyribonucleic Acid (DNA) was extracted from whole blood, and mutation analysis was performed using polymerase chain reaction and sequencing methods for all exons of the CTNS gene. At least 148 different pathogenic and deleterious mutations in the CTNS gene have been reported to date. Owing to our patient’s prominent clinical features of cystinosis, we carried out a targeted search for mutations in the CTNS gene.

Conclusions
This led us to confirm the existence of a homozygous DNA variation c.257_258deletionCT (p.Ser86PhefsTer38) in exon 6 of the gene in patient A and another homozygous DNA variation, c.323delA (p.Q108RfsTer10), in the same exon in patient B. As expected, the mentioned mutation existed in both her parents in a heterozygous state. Variations c.257_258delCT and c.323delA reported in three Iranian patients in the CTNS gene are frameshifts, and truncating mutations that affect product function result in relatively mild symptoms of cystinosis. The present finding confirms previous research and proves the importance of the association of this gene rare mutations with cystinosis. Since reported mutations are rare, their previous reports in Iranian patients indicate the high frequency of these mutations in our region.
Early warning system for drivers’ phone usage with deep learning network
Authors: Hou J. H. Jixu , Xie Xiaofeng , Cai Qian , Deng Zhengjie , Yang Houqun , Huang Hongnian , Wang Xun , Feng Lei , Wang Yizhen 
Published: May 2022

AbstractDangerous driving, e.g., using mobile phone while driving, can result in serious traffic problem and threaten to safety. To efficiently alleviate such problem, in this paper, we design an intelligent monitoring system to detect the dangerous behavior while driving. The monitoring system is combined by a designed target detection algorithm, camera, terminal server and voice reminder. An efficiently deep learning model, namely Mobilenet combined with single shot multi-box detector (Mobilenet-SSD), was applied to identify the behavior of driver. To evaluate the performance of proposed system, a dangerous driving dataset,consisting of 6796 images, was constructed. The experimental results show that the proposed system can achieve the accuracy of 99%, and could be used for real-time monitoring of the drivers’ status.