bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identifying key mutations of radioresponsive genes in esophageal squamous cell carcinoma
Authors: Xu Xin , Wang Yuming , Bai Yongrui , Lu Jun , Guo Yuntao , Wang Xiaohang , Rong Ling , Tang Jianmin , Ma Xiumei , Ma Jun , Zhang Lei 
Published: September 2022

BackgroundRadiotherapy plays an important effect on the standard therapy of esophageal squamous cell carcinoma (ESCC). However, the efficacy of the therapy is limited and a few patients do not achieve satisfactory treatment results due to the existence of radiation resistance. Therefore, it is necessary to identify the potential predictive biomarkers and treatment targets for ESCC.MethodsWe performed the whole-exome sequencing to determine the germline and somatic mutations in ESCC. Functional enrichment and pathway-based protein-protein interaction analyses were used to ascertain potential regulatory networks. Cell survival and cell death after treatment with radiotherapy were determined by CCK-8 and LDH release assays in ESCC cells. The correlations of NOTCH1 and tumor immune infiltration were also analyzed in ESCC.ResultsOur results showed that 344 somatic and 65 germline differentially mutated genes were detected to be radiosensitivity-related loci. The tumor mutational burdens (TMB) or microsatellite instability (MSI) were not significantly correlated with the response to radiotherapy in ESCC patients. Pathway-based protein-protein interaction analyses implied several hub genes with most nodes (such as PIK3CA, NOTCH1, STAT3 and KDR). The in vitro studies showed that the knockdown of NOTCH1 inhibited cell survival and rendered more cell death after the treatment with radiotherapy in ESCC cells, while NOTCH1 overexpression had the opposite effects. Moreover, NOTCH1, frequently up-regulated in ESCC, was negatively correlated with activated B cell and immature dendritic cell in ESCC. High expression of NOTCH1 was accompanied with the low levels of some immunotherapy-related cells, including CD8(+) T cells and NK cells.ConclusionsThese results indicate the differences of the germline mutations and somatic mutations between the radiosensitive and radioresistence groups in ESCC and imply that NOTCH1 plays important roles in regulating the radiosensitivity of ESCC. The findings might provide the biomarkers and potential treatment targets for improving the sensitivity to radiotherapy in ESCC.
Prognostic value of myopic disk deformation in myopic choroidal neovascularization: A 6-year follow-up study
Authors: Han Ye Eun , Kim Yoon Jeon , Yang Hyun Seung , Moon Byung Gill , Lee Joo Yong , Kim June-Gone , Yoon Young Hee 
Published: September 2022

PurposeTo evaluate the clinical characteristics of myopic choroidal neovascularization (mCNV) according to peripapillary atrophy (PPA) and optic disk tilt and to explore whether those myopic disk deformations are associated with the prognosis of mCNV.MethodsPatients with subfoveal mCNV who received intravitreal bevacizumab injection and followed for ≥3 years were included. PPA was quantified as area of the ß-zone PPA/disk area ratio (PDR) and optic disk tilt as the tilt ratio (the longest/shortest disk diameter). We compared the clinical characteristics in terms of PDR and tilt ratio and identified the poor prognostic factors using Logistic regression and Cox proportional hazard model.ResultsAmong 80 eyes of 80 patients, 29 (36.30%) eyes developed macular atrophy during 80.71 ± 34.76 months. PDR and tilt ratio are strongly correlated with each other (P = 0.004). Higher PDR showed significant correlations with longer axial length (P = 0.013), worse baseline and final VA (P = 0.007 and P = 0.047), and thinner subfoveal choroidal thickness (P = 0.039), while higher tilt ratio showed significant correlations only with longer axial length (P = 0.036). High PDR was also an independent risk factor for both macular atrophy (OR = 2.257, P &lt; 0.001) and poor visual outcome (HR = 1.174, P = 0.007), while high disk tilt ratio was not.ConclusionSubfoveal mCNV with higher ß-zone PPA area/disk area ratio had worse functional and structural outcomes.
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
Authors: Najafi Maryam , Riedhammer Korbinian M. , Rad Aboulfazl , Torbati Paria Najarzadeh , Berutti Riccardo , Schüle Isabel , Schroda Sophie , Meitinger Thomas , Ćomić Jasmina , Bojd Simin Sadeghi , Baranzehi Tayebeh , Shojaei Azadeh , Azarfar Anoush , Khazaei Mahmood Reza , Köttgen Anna , Backofen Rolf , Karimiani Ehsan Ghayoor , Hoefele Julia , Schmidts Miriam 
Published: September 2022

BackgroundSteroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade, extensive genetic heterogeneity has become evident while disease-causing variants are still only identified in 30% of cases in previously reported studies with proportion and type of variants identified differing depending on the age of onset and ethnical background of probands. A genetic diagnosis however can have implications regarding clinical management, including kidney transplantation, extrarenal disease manifestations, and, in some cases, even causal therapy. Genetic diagnostics therefore play an important role for the clinical care of SRNS affected individuals.Methodology and resultsHere, we performed NPHS2 Sanger sequencing and subsequent exome sequencing in 30 consanguineous Iranian families with a child affected by SRNS with a mean age of onset of 16 months. We identified disease-causing variants and one variant of uncertain significance in 22 families (73%), including variants in NPHS1 (30%), followed by NPHS2 (20%), WT1 (7%) as well as in NUP205, COQ6, ARHGDIA, SGPL1, and NPHP1 in single cases. Eight of these variants have not previously been reported as disease-causing, including four NPHS1 variants and one variant in NPHS2, ARHGDIA, SGPL1, and NPHP1 each.ConclusionIn line with previous studies in non-Iranian subjects, we most frequently identified disease-causing variants in NPHS1 and NPHS2. While Sanger sequencing of NPHS2 can be considered as first diagnostic step in non-congenital cases, the genetic heterogeneity underlying SRNS renders next-generation sequencing based diagnostics as the most efficient genetic screening method. In accordance with the mainly autosomal recessive inheritance pattern, diagnostic yield can be significantly higher in consanguineous than in outbred populations.
Effects of three modes of physical activity on physical fitness and hematological parameters in older people with sarcopenic obesity: A systematic review and meta-analysis
Authors: Zhuang Min , Jin Mengdie , Lu Tijiang , Lu Linqian , Ainsworth Barbara E. , Liu Yu , Chen Nan 
Published: September 2022

Objective: This systematic review and meta-analysis assessed the effects of three modes of physical activity (PA) (aerobic training [AT], resistance training [RT], and aerobic combined with resistance training [MT]) on body composition (body weight [BW], body mass index [BMI] and percentage of body fat [BF%]), muscle mass (skeletal muscle mass [SM], appendicular skeletal muscle mass [ASM] and appendicular skeletal muscle mass index [ASMI]), muscle strength (handgrip strength [HG] and knee extension strength [KES]), physical performance (gait speed [GS]) and hematological parameters (inflammatory markers, insulin-like growth factor 1 [IGF-1] and lipid profiles) in older people with sarcopenic obesity (SO).Methods: We searched all studies for PA effects in older people with SO from six databases published from January 2010 to November 2021. Two researchers independently screened studies, extracted data according to inclusion and exclusion criteria, and assessed the quality of included studies. Pooled analyses for pre-and post- outcome measures were performed by Review Manager 5.4. We calculated a meta-analysis with a 95% confidence interval (95% CI) and the standardized mean differences (SMD).Results: 12 studies were analyzed. There were 614 older people (84.9% female) with SO, aged 58.4 to 88.4 years. Compared with a no-PA control group, AT decreased BW (SMD = −0.64, 95% CI: −1.13 to −0.16, p = 0.009, I2 = 0%) and BMI (SMD = −0.69, 95% CI: −1.18 to −0.21, p = 0.005, I2 = 0%); RT improved BF% (SMD = −0.43, 95% CI: −0.63 to −0.22, p &lt; 0.0001, I2 = 38%), ASMI (SMD = 0.72, 95% CI: 0.24 to 1.21, p = 0.004, I2 = 0%), ASM (SMD = −0.94, 95% CI: −1.46 to −0.42, p = 0.0004), HG (SMD = 1.06, 95% CI: 0.22 to 1.91, p = 0.01, I2 = 90%) and KES (SMD = 1.06, 95% CI: 0.73 to 1.39, p &lt; 0.00001, I2 = 14%); MT improved BMI (SMD = −0.77, 95% CI: −1.26 to −0.28, p = 0.002, I2 = 0%), BF% (SMD = −0.54, 95% CI: −0.83 to −0.25, p = 0.0003, I2 = 0%), ASMI (SMD = 0.70, 95% CI: 0.22 to 1.19, p = 0.005, I2 = 0%) and GS (SMD = 0.71, 95% CI: 0.23 to 1.18, p = 0.004, I2 = 37%). PA increased IGF-1 (SMD = 0.38, 95% CI: 0.11 to 0.66, p = 0.006, I2 = 0%), but had no effect on inflammatory markers and lipid profiles.Conclusion: PA is an effective treatment to improve body composition, muscle mass, muscle strength, physical performance, and IGF-1 in older people with SO.
Family Related Variables’ Influences on Adolescents’ Health Based on Health Behaviour in School-Aged Children Database, an AI-Assisted Scoping Review, and Narrative Synthesis
Authors: Huang Yi , Procházková Michaela , Lu Jinjin , Riad Abanoub , Macek Petr 
Published: September 2022

ObjectsHealth Behaviours in School-aged Children (HBSC) is an international survey programme aiming to investigate adolescents’ health behaviours, subjective perception of health status, wellbeing, and the related contextual information. Our scoping review aimed to synthesise the evidence from HBSC about the relationship between family environmental contributors and adolescents’ health-related outcomes.MethodsWe searched previous studies from six electronic databases. Two researchers identified the qualified publications independently by abstract and full-text screening with the assistance of an NLP-based AI instrument, ASReview. Publications were included if they were based on HBSC data and investigated the effects of family environment on adolescents’ health outcomes. Researches addressed family-related factors as mediators or moderators were also included.ResultsA total of 241 articles were included. Family environmental contributors could be mapped into six categories: (1) Demographic backgrounds (N= 177); (2) General family’s psycho-socio functions (N= 44); (3) Parenting behaviours (N= 100); (4) Parental health behaviours (N= 7); (5) Family activities (N= 24); and (6) Siblings (N= 7). Except for 75 papers that assessed family variables as moderators (N= 70) and mediators (N= 7), the others suggested family environment was an independent variable. Only five studies employed the data-driven approach.ConclusionOur results suggest most research studies focussed on the influences of family demographic backgrounds on adolescents’ health. The researches related to parental health behaviours and siblings are most inadequate. Besides, we recommend further research studies to focus on the mediator/moderator roles of the family, for exploring the deep mechanism of the family’s impacts. Also, it would be valuable to consider data-driven analysis more in the future, as HBSC has mass variables and data.
The Longitudinal Association Between Physical Activity and Physical Function in Older Women
Authors: Ward-Ritacco Christie L. , Greaney Mary L. , Clark Phillip G. , Riebe Deborah 
Published: September 2022

PurposeThe age-related decline in physical function is ameliorated by physical activity; however, less is known about changes in physical function in active vs. inactive older women. The purpose of this study was to determine the longitudinal associations between physical activity and physical function in community-dwelling older women.Methods238 participants (age 79.0 ± 5.1) were dichotomized into two activity groups [inactive (IG); n = 144 or active (AG); n = 94] based on self-reported exercise at baseline. Repeated measures ANCOVA, controlling for age, measured differences in physical function between activity groups at baseline and 48-months using the Timed Up and Go, 30-s chair stand, and 30-second arm curl. Differences in Timed Up and Go classification [normal (≤ 8.23 s); preclinical limitations/limited physical function (&gt;8.23 s)] were analyzed using chi-square tests for activity group and for activity-age group (AG, &lt;80 years; AG, ≥ 80 years; IG, &lt;80 years; IG, ≥ 80 years).ResultsThe repeated measures ANCOVA yielded a significant main effect for activity group for the Timed Up and Go (p = 0.006), 30-s chair stand (p = 0.002) and 30 s arm curl (p = 0.007) and a significant time main effect for the Timed Up and Go (p = 0.016). There were no significant group by time interactions. A larger proportion of the IG than the AG (58.2 vs. 86.5%, respectively) had Timed Up and Go scores &gt;8.23 s (p &lt; 0.001). At 48-months, individuals in the AG were more likely to have normal Timed Up and Go scores compared to those in the IG in both age groups [χ(3, N=236)2 = 42.56, p &lt; 0.001].ConclusionOlder women who engaged in regular exercise at baseline had higher levels of objectively measured physical function and were less likely to have abnormal Timed Up and Go scores. These findings help illustrate the long-term benefit of exercise on physical function in older women.
One-year outcome of a lumboperitoneal shunt in older adults with idiopathic normal pressure hydrocephalus
Authors: Fang Xuhao , Deng Yao , Xu Xinxin , Shu Weiquan , Tang Feng , Li Shihong , Zhu Ting , Zhang Li , Zhong Ping , Mao Renling 
Published: September 2022

BackgroundLumboperitoneal shunt (LPS) is now an effective surgical modality for idiopathic normal pressure hydrocephalus (iNPH), but there is still a lack of clinical data on LPS in older adult iNPH patients in China. We aim to report the shunt effect and the complications of older adult iNPH patients treated with LPS at a single center in Shanghai, China.MethodsWe conducted a retrospective study among adults over 60 years old who were diagnosed as iNPH and treated with LPS from September 2016 to December 2020. The shunt effect was evaluated from two dimensions of functional and symptomatic improvement 3 months and 1 year after surgery, respectively. The potential factors related to the shunt effect one year after surgery were explored by comparing the effect between different subgroups and conducting multivariate logistic regression analysis.ResultA total of 85 patients were included in this study, ranging from 60 to 93 years old, with an average age of 74.7. The function and symptoms were better both 3 months and 1 year after surgery than before (P &lt; 0.001). At the 1-year postoperation follow-up, the functional and symptomatic improvement rates were 72.9% and 90.6%, respectively. The symptomatic improvement rates of gait, urination, and cognition were 74.1%, 72.9%, and 60.0%, respectively. Multivariate logistic regression analysis showed that improvement in function was much more possible in patients with less than 24 months from symptom onset to surgery (OR = 24.57, P &lt; 0.001) and those with disproportionately enlarged subarachnoid-space hydrocephalus (OR = 5.88, P = 0.048); improvement in gait was also more possible in patients with less than 24 months from symptom onset to surgery (OR = 5.29, P = 0.017); improvement in urination was more possible in patients with diabetes (OR = 4.76, P = 0.019), and improvement in cognition was more possible in patients with preoperative modified Rankin scale level lower than 4 (OR = 3.51, P = 0.040). Minor operation-related complications were seen in 27 patients (31.8%) and severe complications in 6 patients (7.1%).ConclusionLPS could improve the function and symptoms of older adult iNPH patients. Early detection, diagnosis, and treatment of the disease could improve the shunt effect of the patients. Older adult iNPH patients with higher age ranges could achieve comparable shunt results compared with younger adults.
Highly Efficient Perfect Vortex Beams Generation Based on All-Dielectric Metasurface for Ultraviolet Light
Authors: Shafqat Muhammad Danial , Mahmood Nasir , Zubair Muhammad , Mehmood Muhammad Qasim , Massoud Yehia 
Published: September 2022

Featuring shorter wavelengths and high photon energy, ultraviolet (UV) light enables many exciting applications including photolithography, sensing, high-resolution imaging, and optical communication. The conventional methods of UV light manipulation through bulky optical components limit their integration in fast-growing on-chip systems. The advent of metasurfaces promised unprecedented control of electromagnetic waves from microwaves to visible spectrums. However, the availability of suitable and lossless dielectric material for the UV domain hindered the realization of highly efficient UV metasurfaces. Here, a bandgap-engineered silicon nitride (Si3N4) material is used as a best-suited candidate for all-dielectric highly efficient UV metasurfaces. To demonstrate the wavefront manipulation capability of the Si3N4 for the UV spectrum, we design and numerically simulate multiple all-dielectric metasurfaces for the perfect vortex beam generation by combing multiple phase profiles into a single device. For different numerical apertures (NA =0.3 and 0.7), it is concluded that the diffracted light from the metasurfaces with different topological charges results in an annular intensity profile with the same ring radius. It is believed that the presented Si3N4 materials and proposed design methodology for PV beam-generating metasurfaces will be applicable in various integrated optical and nanophotonic applications such as information processing, high-resolution spectroscopy, and on-chip optical communication.
Fabrication of Tannic Acid coated Polyglactin Surgical Suture to Prevent Bacterial Infection
Authors: Saputra Bakti Wahyu , Husin Amelia Sendang , Setyajati Flavia Domitilla Erika , Prasetyo Vincentia Krisnina , Skolastika Skolastika , Julianus Jeffry , Candrasari Damiana Sapta , Setiawati Agustina 
Published: September 2022

Polyglactin surgical (PLGA) suture is a b biodegradable raidedsuture frequently used in clinical surgery. Due to its braided structure, polyglactin suture is easier contaminated by bacterial during surgery process. Thus, this study was coated by tannic acid (TA) to prevent Staphylococcus aureus binding. Suture surface modification was carried out by immersing PLGA in tannic acid- ferri chloride (TA-Fe) solution pH 8. The fabrication process was confirmed by FTIR analysis, and the antibacterial preventing activity was determined by bioinformatics analysis. Thus, this engineered suture increased the wettability in DI water, serum, and saline solutions, which could be promising to increase the biocompatibility in wound healing process. To sum up, our method would be applied in surgical suture to prevent bacterial infection and potentially elevate the biocompatibility by increasing wettability in biological solutions.
Compliance Profile of Pulmonary Tuberculosis Patient Treatment Stage in Consuming Anti Tuberculosis Drugs (ATD) at Lubuk Buaya Health Center Padang
Authors: Amelia Rinita , Warlem Nilas , Abdullah Dessy , Andhika Satria 
Published: September 2022

A well-prepared abstract enables the reader to identify the basic Tuberculosis (TB) is a disease caused by the microorganism Mycobacterium tuberculosis. According to the World Health Organization (WHO), the prevalence global of TB in 2018 was around 10 million people infected and caused 1.5 million deaths. Eradication TB, it is necessary to be aware of the patient himself because adherence to taking ATD is a key factor in the success of the treatment. The purpose of this study was to determine the compliance profile of pulmonary TB patients in consuming Anti-TB Drugs (ATD) at Lubuk Buaya Health Center, Padang City in 2019-2020. Type of research is descriptive research with cross-sectional study method and total sampling. Univariate data analysis is presented by distribution freququency. Data processing using the computerized SPSS program. The results of research showed 117 patients who met the inclusion and exclusion criteria. The most of patient is 26-45 years old, namely 51 people (43,6%). The Most of gender is male, namely 65 people (55,6%). The most job of patient is entreprenur, namely 35 people (29,9%). The most of education category is a middle category, namely 69 people (59,0%). The most of treatment stage is continuation stage, namely 99 people (84,6%). The most of ATD category is the first category , namely 100 people (85,5%), and the most patient to complied to taking ATD, namely 99 people (84,6%). This research was concluded that age 26-45 years old, gender is male, job is entreprenur, education is a middle category, stage of treatment is continuation category, the first category of ATD, patient to complied to taking ATD is the dominant profile pulmunary TB patient at Lubuk Buaya health center in 2019-2020.
Use of branched-chain amino acids for reducing exercise-caused skeletal muscle damage
Authors: Lednev E. M. , Dubrov V. E. , Popov D. V. 
Published: September 2022

Introduction: Skeletal muscles damage (direct and vicarious) slows down the recovery processes in patients with injuries of the musculoskeletal system. It occurs in the early postoperative period as well. An increase in the rigidity of the skeletal muscle extracellular matrix can reduce pain, tissue swelling, and accelerate the recovery of contractility.Objective: The analyses of the effect of branched-chain amino acids (BCAAs) intake on the expression of IGF1 genes, type 1, 3 and 5 collagen, which are crucial in the composition of the skeletal muscle extracellular matrix, as well as on the muscle membrane damage against the background of chronic damage to skeletal muscles.Material and methods: 12 young healthy male subjects, skiers aged 19 (18; 22) received a placebo treatment (maltodextrin, 100 mg/kg body weight/day; n = 6) or a mixture of amino acids (leucine, isoleucine, valine – 50:25:20 mg/kg body weight/day respectively; n = 6). The treatment was received daily against the background of a large amount of aerobic high-intensity training (up to 22 hours per week). Before and after the amino acids intake a biopsy of the musculus vastus lateralis was performed, and venous blood samples were taken during the experiment.Results: The intake of leucine against the background of training led not only to a pronounced increase in the level of IGF1 protein in blood by 1.5 times (which corresponds to the literature data), but also to a trend towards an increase in the expression of IGF1Ea mRNA by 1.8 times in the skeletal muscle, and a decrease in the level of markers of muscle membranes damage – creatine phosphokinase (CPK) activity and myoglobin. In addition, changes in the IGF1-dependent collagen genes expression strongly correlated with changes in IGF1Ea expression, but not with IGF1 protein in blood (pooled group, n = 12). Thus, the intake of leucine as a part of the essential amino acids can reduce damage to skeletal muscles caused by excessive physical activity, lack of physical activity, or direct trauma.Conclusion: A 10-week BCAAs intake by individuals with documented chronic muscle membrane damage caused an increase of basal levels of IGF1 in blood and a trend towards increased IGF1Ea mRNA expression in skeletal muscle, and also caused a modest reduction in damage of skeletal muscle membrane.