bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women
Authors: Aparicio-Bautista Diana I. , Jiménez-Ortega Rogelio F. , Becerra-Cervera Adriana , Aquino-Gálvez Arnoldo , de León-Suárez Valeria Ponce , Casas-Ávila Leonora , Salmerón Jorge , Hidalgo-Bravo Alberto , Rivera-Paredez Berenice , Velázquez-Cruz Rafael 
Published: April 2024

IntroductionUnderstanding the genetic factors contributing to variations in bone mineral density (BMD) and vitamin D could provide valuable insights into the pathogenesis of osteoporosis. This study aimed to evaluate the association of single nucleotide variants in MARK3 (rs11623869), PLCB4 (rs6086746), and GEMIN2 (rs2277458) with BMD in Mexican women.MethodsThe gene-gene interaction was evaluated in these variants in serum 25(OH)D levels and BMD. A genetic risk score (GRS) was created on the basis of the three genetic variants. Genotyping was performed using predesigned TaqMan assays.ResultsA significant association was found between the rs6086746-A variant and BMD at the total hip, femoral neck, and lumbar spine, in women aged 45 years or older. However, no association was observed between the variants rs11623869 and rs2277458. The rs11623869 × rs2277458 interaction was associated with total hip (p=0.002) and femoral neck BMD (p=0.013). Similarly, for vitamin D levels, we observed an interaction between the variants rs6086746 × rs2277458 (p=0.021). GRS revealed a significant association with total hip BMD (p trend=0.003) and femoral neck BMD (p trend=0.006), as well as increased vitamin D levels (p trend=0.0003). These findings provide evidence of the individual and joint effect of the MARK3, PLCB4, and GEMIN2 variants on BMD and serum vitamin D levels in Mexican women.DiscussionThis knowledge could help to elucidate the interaction mechanism between BMD-related genetic variants and 25OHD, contributing to the determination of the pathogenesis of osteoporosis and its potential implications during early interventions.
Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy
Authors: Chen Hui-An , Hsu Rai-Hseng , Fang Ching-Ya , Desai Ankit K. , Lee Ni-Chung , Hwu Wuh-Liang , Tsai Fuu-Jen , Kishnani Priya S. , Chien Yin-Hsiu 
Published: April 2024

IntroductionPompe disease, a lysosomal storage disorder, is characterized by acid α-glucosidase (GAA) deficiency and categorized into two main subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The primary treatment, enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA), faces challenges due to immunogenic responses, including the production of anti-drug antibody (ADA), which can diminish therapeutic efficacy. This study aims to assess the effectiveness of immune tolerance induction (ITI) therapy in cross-reactive immunologic material (CRIM)-positive Pompe disease patients with established high ADA levels.MethodIn a single-center, open-label prospective study, we assessed ITI therapy’s efficacy in Pompe disease patients, both IOPD and LOPD, with persistently elevated ADA titers (≥1:12,800) and clinical decline. The ITI regimen comprised bortezomib, rituximab, methotrexate, and intravenous immunoglobulin. Biochemical data, biomarkers, ADA titers, immune status, and respiratory and motor function were monitored over six months before and after ITI.ResultsThis study enrolled eight patients (5 IOPD and 3 LOPD). After a 6-month ITI course, median ADA titers significantly decreased from 1:12,800 (range 1:12,800-1:51,200) to 1:1,600 (range 1:400-1:12,800), with sustained immune tolerance persisting up to 4.5 years in some cases. Serum CK levels were mostly stable or decreased, stable urinary glucose tetrasaccharide levels were maintained in four patients, and no notable deterioration in respiratory or ambulatory status was noted. Adverse events included two treatable infection episodes and transient symptoms like numbness and diarrhea.ConclusionITI therapy effectively reduces ADA levels in CRIM-positive Pompe disease patients with established high ADA titers, underscoring the importance of ADA monitoring and timely ITI initiation. The findings advocate for personalized immunogenicity risk assessments to enhance clinical outcomes. In some cases, prolonged immune suppression may be necessary, highlighting the need for further studies to optimize ITI strategies for Pompe disease treatment. ClinicalTrials.gov NCT02525172; https://clinicaltrials.gov/study/NCT02525172.
The efficacy of electroacupuncture for cervical nerve edema and movement disorder caused by the brachial plexus injury: a case report
Authors: Wang Chao , Liu Yingjun , Li Lu , Zhang Haijuan , Ye Ziyu , Zhao Linfang 
Published: April 2024

The brachial plexus injury (BPI) is one of the most severe types of peripheral nerve injuries, often caused by upper limb traction injury. In clinic, the surgery is widely used to treat the BPI. However, surgery may need to be performed multiple times at different stages, which carries risks and brings heavy economic burden. In non-surgical treatment, splinting, local injection of corticosteroids, and oral corticosteroids can achieve significant short-term benefits, but they are prone to recurrence and may cause complications of mechanical or chemical nerve damage. In this report, we present a case of a 46-year-old female patient with BPI. The patient had difficulty in raising, flexing and extending of the left upper limb, and accompanied with the soreness and pain of neck and shoulder. After 3 months of EA treatment, a significant reduction in the inner diameter of the left C5 to C7 root at the outlet of brachial plexus nerve was detected by musculoskeletal ultrasound, and the soreness and pain in the left neck and shoulder were significantly reduced. The soreness and pain in the left neck and shoulder did not recur for 2 years.Case summaryThe patient is a 46-year-old female with BPI. She experienced difficult in lifting, flexing and extending of the left upper limb, which accompanied by soreness and pain in the left neck and shoulder. After 3 months of EA treatment, the patient's pain and limb's movement disorder was improved. After 2 years of follow-up, the patient's left neck and shoulder showed no further pain.ConclusionEA has shown satisfied efficacy in BPI, improving limb restrictions and relieving pain in patients for at least 2 years.
TP53 co-mutations in advanced lung adenocarcinoma: comparative bioinformatic analyses suggest ambivalent character on overall survival alongside KRAS, STK11 and KEAP1 mutations
Authors: Frille Armin , Boeschen Myriam , Wirtz Hubert , Stiller Mathias , Bläker Hendrik , von Laffert Maximilian 
Published: April 2024

BackgroundRecently, we could show that the co-mutations of KRAS + KEAP1, STK11 + KEAP1 and KRAS + STK11 + KEAP1 lead to a significantly shorter median overall survival (mOS) in patients with lung cancer across treatments by analyzing multiple dataset. TP53, a tumor suppressor gene, plays a crucial role in regulating cell cycle progression. Its mutations occur in approximately 40-50% of non-small lung cancer (NSCLC). Co-occurrence of all four mentioned mutations has been a matter of debate for years. The aim of this study was to assess the distribution of these four mutations and the influence of the different co-mutational patterns on survival.MethodsWe present a comparative bioinformatic analysis and refer to data of 4,109 patients with lung adenocarcinoma (LUAD).ResultsMost of the mutations within the LUAD belong to TP53-only (29.0%), quadruple-negative (25.9%) and KRAS-only (13.4%). Whereas TP53-mutations seem to have protective effects in the context of further KEAP1- and KRAS + KEAP1-alterations (improved mOS), their role seems contrary if acquired in an already existing combination of mutations as KRAS + STK11, KRAS + STK11 + KEAP1 and STK11 + KEAP1. TP53 co-mutations had a negative influence on KRAS-only mutated LUAD (mOS reduced significantly by more than 30%).DiscussionThese data underline the need for complex mutational testing to estimate prognosis more accurately in patients with advanced LUAD.
Circulating tumour DNA detects somatic variants contributing to spatial and temporal intra-tumoural heterogeneity in head and neck squamous cell carcinoma
Authors: Payne Karl F. B. , Brotherwood Peter , Suriyanarayanan Harini , Brooks Jill M. , Batis Nikolaos , Beggs Andrew D. , Gendoo Deena M. A. , Mehanna Hisham , Nankivell Paul 
Published: April 2024

BackgroundAs circulating tumour DNA (ctDNA) liquid biopsy analysis is increasingly incorporated into modern oncological practice, establishing the impact of genomic intra-tumoural heterogeneity (ITH) upon data output is paramount. Despite advances in other cancer types the evidence base in head and neck squamous cell carcinoma (HNSCC) remains poor. We sought to investigate the utility of ctDNA to detect ITH in HNSCC.MethodsIn a pilot cohort of 9 treatment-naïve HNSCC patients, DNA from two intra-tumoural sites (core and margin) was whole-exome sequenced. A 9-gene panel was designed to perform targeted sequencing on pre-treatment plasma cell-free DNA and selected post-treatment samples.ResultsRates of genomic ITH among the 9 patients was high. COSMIC variants from 19 TCGA HNSCC genes demonstrated an 86.9% heterogeneity rate (present in one tumour sub-site only). Across all patients, cell-free DNA (ctDNA) identified 12.9% (range 7.5-19.8%) of tumour-specific variants, of which 55.6% were specific to a single tumour sub-site only. CtDNA identified 79.0% (range: 55.6-90.9%) of high-frequency variants (tumour VAF&gt;5%). Analysis of ctDNA in serial post-treatment blood samples in patients who suffered recurrence demonstrated dynamic changes in both tumour-specific and acquired variants that predicted recurrence ahead of clinical detection.ConclusionWe demonstrate that a ctDNA liquid biopsy identified spatial genomic ITH in HNSCC and reliably detected high-frequency driver mutations. Serial sampling allowed post-treatment surveillance and early identification of treatment failure.
Yoga, a mindfulness therapy to prevent PTSD as to encompass athletes’ performance
Authors: Bucea-Manea-Țoniș Rocsana , Păun Dan Gh. 
Published: April 2024

IntroductionYoga is one of the physical and mental activities used in elite sports training for risk prevention and medical rehabilitation in case of injuries caused by overtraining or accidents. This study examined the opinions of Romanian elite athletes and coaches on the feasibility of incorporating yoga practice into training regimens for purposes of injury prevention and medical recovery.MethodsThis study surveyed a group of 500 athletes, coaches, and medical personnel from three universities in Romania, all of which are part of the Faculty of Physical Education and Sport (PES). An online survey was administered which evaluates athletes’ experience of yoga integration in pre/post training and its positive effects on reducing posttraumatic stress disorder (PTSD). The data were then analyzed with a structural equation model utilizing SmartPLS software.ResultsAccording to the survey, Romanian athletes use yoga both before and after competitions to improve their focus, balance, muscle, and joint elasticity, foster a winning mindset, control their emotions and PTSD, visualize their competition performance, and see themselves as winners. The survey also found that yoga is seen as useful for cardiac rehabilitation, neuropathic pain, pulmonary disease, orthopedic illness, muscle strain, and managing symptoms of Posttraumatic Stress Disorder (PTSD).ConclusionThis study contributes to enhancing athletes’ mindfulness and health, offering valuable insights to trainers and athletes interested in incorporating yoga into professional sports activity. The results support the notion that yoga integration in training activity promises to positively influence athletes’ performance and reduce collateral side effects of competitions. The results are also in line with the objectives of the Global Action Plan on Physical Activity 2018–2030 (GAPPPA) - with the theme of “being more efficient to prevent than to treat” – which places special emphasis on the demands for certain programs and services, sports coverage, and healthy workplace initiatives. The study further indicates that Romanian elite athletes and coaches support the use of yoga is an effective method for enhancing athletic training and medical therapy for post-traumatic illnesses and stress disorders.
Halotolerant Endophytic Bacteria Regulate Growth and Field Performance of Two Durum Wheat Genotypes with Contrasting Salinity Tolerance Potential
Authors: Albdaiwi Randa , Al-Sayaydeh Rabea , Al-Rifaee Mohammad K. , Alhindi Tareq , Ashraf Muhammad , Al-Abdallat Ayed M. 
Published: April 2024

Soil salinity hampers durum wheat plant growth and development at various stages. The detrimental effects of salinity on plant cellular and physiological processes necessitate strategies to alleviate its negative impact and improve overall crop yield. This study investigates the efficacy of plant growth-promoting rhizobacteria (PGPR) bacteria inoculation in mitigating salinity stress on two durum wheat genotypes with contrasting degrees of salinity tolerance (Tamaroi, salt-sensitive and Line 5004, salt-tolerant) under greenhouse and field conditions. For this purpose, two halotolerant-PGPR strains, Pseudomonas jordanii strain G34 and Oceanobacillus jordanicus strain GSFE11, were utilized for the inoculation. For the greenhouse experiment, the two selected genotypes were subjected to salinity at the flag leaf stage with continuous irrigation with a Hoagland solution supplemented with 50 mM NaCl. Field experiments were conducted across two locations with contrasting salinity levels over two growing seasons. At the end of both experiments, various parameters including total weight, spike weight, grain weight, spike number, spikelet number, grains per spike and thousand kernel weight were measured. The halotolerant PGPRs, P. jordanii strain G34 and O. jordanicus strain GSFE11, proved effective in alleviating salinity-induced adverse effects and enhancing growth under greenhouse and field conditions. However, bacterial inoculation significantly improved growth in the salt-sensitive genotype and such effects were not observed in the tolerant genotype, emphasizing genotype-specific responses. Notably, inoculation with O. jordanicus increased Na+ and Ca2+ uptake in the salt-tolerant “Line 5004” without hindering growth, suggesting one of its potential mechanisms for salt tolerance. This research demonstrates the potential of halotolerant-PGPR inoculation in enhancing durum wheat production in saline environments, but also underscores the importance of understanding genotype-specific responses for tailored interventions.
Electromagnetic Planning, Guidance and Feedback System Retrofitted to Prostate Biopsy Equipment and Validation
Authors: Ballester Alejo , Samouce Christopher , Esteverena Tomas , Sarmiento Sebastian , Zhao Chong , Lizdas David , Stringer Thomas , Lampotang Samsun 
Published: April 2024

Objective: Design refinement and validation with simulated
physical prostates of a planning, guidance, and feedback system for
visualizing prostate biopsy in 3D perspective. Methods: A
visualized prostate biopsy system (vPBx) using electromagnetic tracking
of a transrectal ultrasound (TRUS) probe, a biopsy device, and a urinary
catheter placed inside the patient’s prostate was refined and integrated
as a reversible retrofit to a Flex Focus 400 ultrasound machine (BK
Medical). The system was verified using simulated physical prostates
with 12 0.065 ml (2.5 mm radius) spheres, arranged in a double sextant
template, registered to a virtual model of the prostate and used to
distinguish hits and misses. Systematic prostate biopsy (sPBx) was
performed on simulated prostates using the vPBx as a retrofit to the
TRUS machine. Results: The vPBx system enabled an inexperienced
user to sample the sPBx template locations with a template deviation
below 2.5 mm. Conclusion: An electromagnetic guidance system was
refined, retrofitted with a Flex Focus 400 machine and a side-cut biopsy
device (Max-Core Disposable Core Biopsy Instrument; Bard) and
successfully validated with simulated physical prostates.
Significance: If validated with patients, the vPBx system has the
potential to reduce prostate biopsy false negatives, which may lead to
earlier diagnosis of clinically significant prostate cancer and improved
10-year mortality in high risk prostate cancer patients.
IMPLEMENTASI PKPU 23, 28 DAN 33 TAHUN 2018 TENTANG PEMASANGAN ALAT PERAGA KAMPANYE DI KABUPATEN HULU SUNGAI UTARA
Authors: Arsyad Muhamad 
Published: April 2024

The problems faced by the Hulu Sungai Utara Regency General Election Commission (KPU) problems in terms of the implementation of the General Election Commission's (APK) Campaign Props only allow for the installation of a maximum of 5 (five) billboards, limitation of the location of billboards and APK Designs. not in accordance with the provisions made by the Candidate. The purpose of this study was to identify and analyze the implementation of PKPU 23, 28 and 33 of 2018 regarding the installation of campaign props in the Hulu Sungai Utara Regency and the factors that hindered the implementation. The research method is qualitative descriptive, type and source of data, namely primary data through observation, interviews while secondary data through data that is on the General Election Commission and related services in Hulu Sungai Utara Regency, the technique used in sampling is the purposive sampling technique is withdrawal of samples in purpose or can be determined in accordance with the requirements (characteristics, characteristics, characteristics, criteria). The results of the study show that in the Implementation of PKPU 23, 28 and 33 regarding the installation of Campaign Teaching Devices in the Upper Sungai Utara District it has been going well, where one indicator is the coordination that is always carried out by election organizers, communicating all related matters Terms of installation of Campaign Teaching Devices. This is evidenced by the lack of cases of alleged violations which were only 29 cases. And the factors that influence are factors of Communication, Human Resources, Attitudes and Bureaucracy. The suggestions given for input include the need for socialization, the implementers of election oversight in the field must also understand the rules correctly, and the authors hope that election organizers, both KPU and Bawaslu, have the same understanding of PKPU's provisions on campaign props.
PEMBERDAYAAN MASYARAKAT DALAM PENGELOLAAN BANK SAMPAH DI KECAMATAN AMUNTAI TENGAH KABUPATEN HULU SUNGAI UTARA
Authors: Anjasmari Ni Made Musiyani 
Published: April 2024

The problem of waste management that is not good in Amuntai City is due to the lack of socialization of related institutions namely the Department of Housing, Settlement Areas, and the Environment of North Hulu Sungai Regency, causing a lack of public awareness in managing waste, community consumption patterns have not led to insightful patterns environment, the use of packaging in the form of paper, plastic bags, cans, etc., resulting in a pile of garbage outside the Temporary Disposal Site (TPS) and the lack of a Temporary Disposal Site (TPS). With the presence of the garbage bank program, the community can reuse household waste produced so that it has economic value, by selling it to the garbage bank.
The purpose of this research is to identify and analyze community empowerment in the management of waste banks in Amuntai Tengah Sub-District, Hulu Sungai Utara Regency and to identify and analyze supporting factors and inhibiting factors for community empowerment in waste bank management in Amuntai Tengah District that are fostered by the Department of Housing, Regions Settlement and Environment of North Hulu Sungai Regency.
The research method is descriptive qualitative, the type and source of data is primary data through observation, interviews while secondary data through documents that exist in the Trash Bank in Amuntai Tengah District, the technique used in sampling is Snow Ball sampling technique (snowball sampling) ).
From the results of the study showed that community empowerment in managing the waste bank has been carried out well through the activities carried out namely the existence of Desire, Trust, Confidence, Credibikitas / Encouragement, Responsibility and Communication in running the garbage bank Unit in the Amuntai Tengah District. Supporting factors are adequate waste sorting places and tools in grinding used vegetables and leaves to make compost, while the inhibiting factor is the lack of facilities and infrastructure, which is inadequate transportation equipment and the absence of tools for counting or refining plastic waste and tools cardboard presses and lack of funds to run a waste bank management
As for the advice given for input to the waste bank, they include the introduction of waste sorting and how to manage the Waste Bank, the provision of appropriate transportation facilities as well as providing garbage counting equipment and cardboard pressing equipment for recycling.
ASPEK-ASPEK PENDAPATAN ASLI DAERAH KABUPATEN HULU SUNGAI UTARA
Authors: Munawarah Munawarah 
Published: April 2024

Data Laporan Keuangan Pemerintah Daerah (LKPD) Kabupaten Hulu Sungai Utara diketahui bahwa Jumlah Transfer dari Pe­merintah Pusat jauh lebih besar dibandingkan dengan Pendapatan Asli Daerah Kabupaten Hulu Sungai Utara. Dimana realisasi dari Pendapatan Asli Daerah tahun 2018 sebesar Rp 104.746.341.649. sedangkan transfer dari Pemerintah Pusat yang terealisasi adalah Rp 799.129.266.905, peruntukan APBD kabupaten Hulu Sungai Utara dibagi menjadi 60% belanja pegawai dan 40% untuk pembagunan.
Penelitian ini mengunakan pendekatan kualitatif, yaitu suatu pendekatan dalam melakukan penelitian yang berorientasi pada gejala-gejala yang bersifat alamiah, dimana yang dikumpulkan berupa pendapat, tanggapan, informasi, konsep-konsep dan keterangan yang berbentuk uraian dalam mengungkapkan masalah
Sumber Pendapatan Daerah baik, karena terjadi peningkatan pendapatan daerah di Kabupaten Hulu Sungai Utara selama tiga tahun terakhir, dimana realisasi pendapatan bisa memenuhi target yang telah ditetapkan. pengelolaan keuangan daerah baik, karena melibatkan beberpa lembaga yang terhubung kepada BP2RD, apalagi di tambah dengan adanya kerjasama dengan bank kalsel, administrasi pemungutan bergam pada Kabupaten Hulu Sungai Utara, ada dari pajak, serta retribusi, dari pelayanan sampai kepada tempat wisata, hanya saja keragaman ini juga dengan metode yang bermacam-macam, khusus untuk administrasi pajak diketahui terkadang begitu banyak prosedur sehingga pengguna jasa menjadi tidak efektif, untuk tempat wisata memang terkadang pintu masuk jaga petugas tidak terlalu terlihat terutama pada waktu sore hari sehingga ini berdampak kepada pemasukan kas daerah, serta masih adanya penyerahan kepada pihak kedua terutama yang berhubungan dengan parkir sehingga pemasukan kas daerah menjadi tidak maksimal.
Komunikasi jalannya Peraturan Daerah yang berhubungan dengan retribusi dengan pihak pengelola yang melibatkan pihak kedua agar kesepakatan pemasukan pembayaran bagi hasil dipatok setoran sebesar Rp 30.000.000 ke Pemerintah Daerah setiap bulan bisa di tambah dan lebih menguntungkan kepada Pemerintah Daerah, karena kesepakatan ini belum berubah dari Tahun 2011 sampai sekarang