bluuebunny/crossref_metadata_2025_split huggingface dataset:
Refinement of a meaning-centered counseling program for Chinese patients with advanced cancer: integrating cultural adaptation and implementation science approaches
Authors: Lui Florence , Zhang Qingyi , Bao George Chengxi , Narang Bharat , Chen Ruo Yan , Niu Yunshan , Leng Jennifer , Breitbart William 
Published: January 2025

Abstract

Background
This mixed methods study identified needed refinements to a telehealth-delivered cultural and linguistic adaptation of Meaning-Centered Psychotherapy for Chinese patients with advanced cancer (MCP-Ch) to enhance acceptability, comprehensibility, and implementation of the intervention in usual care settings, guided by the Ecological Validity Model (EVM) and the Practical, Robust Implementation and Sustainability Model (PRISM).

Methods
Fifteen purposively sampled mental health professionals who work with Chinese cancer patients completed surveys providing Likert-scale ratings on acceptability and comprehensibility of MCP-Ch content (guided by the EVM) and pre-implementation factors (guided by PRISM), followed by semi-structured interviews. Survey data were descriptively summarized and linked to qualitative interview data. Three analysts independently coded the transcripts according to EVM and PRISM domains; discrepancies were resolved through discussion and consensus.

Results
Quantitative findings showed high appropriateness and relevance of MCP-Ch across five EVM domains of Language, Metaphors/Stories, Goals, Content, and Concepts. Qualitative analysis yielded 23 inductive codes under the seven EVM domains: (1) Language (3 subcodes), (2) Persons (2 subcodes), (3) Metaphors/Stories (2 subcodes), (4) Methods (8 subcodes), (5) Content (2 subcodes), (6) Goals (4 subcodes), and (7) Concepts (2 subcodes). Themes based on PRISM included (1) Intervention characteristics (organizational perspective, 7 subcodes; and patient perspective, 6 subcodes) (2) External environment (2 subcodes), (3) Implementation and sustainability infrastructure (4 subcodes), and (4) Recipients (organizational characteristics, 5 subcodes; and patient characteristics, 4 subcodes).

Conclusion
Recommendations for next steps include increasing the MCP-Ch protocol’s flexibility and adaptability to allow interventionists to flexibly tailor MCP-Ch material to meet patients’ individual needs, simplifying content to improve comprehension and acceptability, providing additional training to Chinese-serving providers to increase adoption and sustainability, and considering interpreter-assisted delivery to increase access. Findings yielded important information to maximize cultural relevance as well as the implementation and sustainability potential of MCP-Ch in real-world settings.
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families
Authors: Gao Shanshan , Chen Duo , Li Qianqian , Zhao Xuechao , Chen Chen , Liu Lina , Jiang Miao , Zhao Zhenhua , Wang Yanhua , Kong Xiangdong 
Published: January 2025

Abstract

Objective
Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.

Methods
This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024. Various molecular techniques, including multiplex ligation-dependent probe amplification analysis, long-range polymerase chain reaction (PCR) combined with nested PCR, Sanger sequencing, and whole-exome sequencing were employed to establish a thorough genetic variant profile in 680 Chinese pedigrees with clinically suspected SMA.

Results
Out of 680 families suspected of having SMA, 675 exhibited mutations in the SMN1 gene, while three families were linked to mutations in the IGHMBP2 gene. One family exhibited a genetic variation in the NEB gene, and another family exhibited a variation in the SCO2 gene. Among the families with mutations in the SMN1 gene, 645 families exhibited either E7‒E8 or E7 homozygous deletion. Some families displayed E7‒8 heterozygous deletions along with other mutations, such as E1 or E1‒6 heterozygote deletion and point mutations. Furthermore, one family demonstrated a compound-heterozygous double mutation, while another carried a type “2 + 0” mutation alongside a point mutation.

Conclusions
This study comprehensively analyzed the genetics of suspected familial SMA cases in the Chinese population, providing insights into the molecular genetic mechanisms of SMA and the utility of various detection techniques. The findings revealed important implications for genetic counseling, prenatal diagnosis, and targeted therapies in clinical practice.
Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population
Authors: Aguilar Dione , Garza-Rodríguez María Lourdes , Muñiz-Garza Carolina Elizabeth , Nuñez Fernando Alcorta , Villarreal-Garza Cynthia Mayte , Vidal-Gutiérrez Oscar , Pérez-Ibave Diana Cristina , Burciaga-Flores Carlos Horacio 
Published: January 2025

Abstract

Background
Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc. This study aimed to identify the prevalence of non-BRCA genes in HBOC patients of Northeast Mexico.

Methods
This multicentric study included 1285 patients with HBOC diagnosis from four oncologic centers in northeast Mexico from 2016 to 2023. Genomic and clinical data were analyzed based on multi-gene panel results and electronic records of the medical geneticist consultation. For the data analysis of qualitative and quantitative variants, JASP statistical software (version 0.18.1) was used, taking p < 0.05 as a significant result.

Results
We found that 32.7% of the patients had at least one GPV in non-BRCA genes. The five most frequent non-BRCA genes were CHEK2, PALB2, MUTYH, CDKN2A, and ATM. Among the group of non-BRCA genes, six are involved in the homologous repair pathway (HR), and three are related to DNA damage repair (DDR) pathways. In analyzing GPVs in molecular pathways, both have similar frequencies with no statistical difference for BC.

Conclusion
Multi-gene testing implementation improves the detection of often overlooked genes related to HBOC pathogenesis and treatment. Non-BRCA GPVs in Northern Mexico correspond to one-third of the HBOC cases, including HR and DDR pathways genes that would be misdiagnosed if not tested. HR patient carriers are potential targets of iPARP therapies. The optimal approach to cancer treatment for non-BRCA mutation carriers warrants further investigation to develop newer therapies.
Thoracolumbar fascia ultrasound shear strain differs between low back pain and asymptomatic individuals: expanding the evidence
Authors: Tomita Norio , Roy-Cardinal Marie-Hélène , Chayer Boris , Daher Stacey , Attiya Ameer , Boulanger Aline , Gaudreault Nathaly , Cloutier Guy , Bureau Nathalie J. 
Published: January 2025

Abstract

Objectives
To compare thoracolumbar fascia (TLF) shear strain between individuals with and without nonspecific low back pain (NSLBP), investigate its correlation with symptoms, and assess a standardized massage technique’s impact on TLF shear strain.

Methods
Participants were prospectively enrolled between February 2021 and June 2022. Pre- and post-intervention TLF ultrasound and pain/disability questionnaires were conducted. Cumulated (C|ShS|L) and maximum (Max|ShS|L) shear strain parameters were computed from radiofrequency data, and TLF thickness was measured on reconstructed B-mode images. Statistical analysis included linear mixed-effects regression.

Results
Thirty-two NSLBP participants (mean age, 57 ± 9 years [standard deviation]; 21 women) and 32 controls (51 ± 10 years; 22 women) (p = 0.02) were enrolled. The mean shear strain was higher in NSLBP participants (C|ShS|L: 327.1% ± 106.0 vs 290.2% ± 99.8, p < 0.0001; Max|ShS|L: 8.1% ± 2.8 vs 7.0% ± 2.4, p < 0.0001) than controls, while mean TLF thickness (1.6 mm ± 1.0 vs 1.5 mm ± 0.9; p = 0.43) was comparable. Elastography parameters correlated with pain [C|ShS|L estimate [β], 0.01 [95% CI: 0.002, 0.02]; p = 0.02); Max|ShS|L [β], 0.003 [95% CI: 0.001, 0.005]; p < 0.001)] and disability [C|ShS|L [β] 0.02 [95% CI: 0.005, 0.03]; p = 0.009); Max|ShS|L [β] 0.003 [95% CI: 0.001, 0.006]; p = 0.002)] scores. Neither C|ShS|L (β, 0.13 [−0.27, 0.53]; p = 0.53) nor Max|ShS|L (β, −0.02 [−0.10, 0.05]; p = 0.59) changed post-intervention.

Conclusion
Individuals with NSLBP demonstrated elevated TLF shear strain compared to controls, with similar TLF thickness. The shear strain correlated with pain and disability scores, yet a brief massage did not influence shear strain.

Trial registration
Clinicaltrials.gov, NCT04716101. Registered 14 January 2021, https://clinicaltrials.gov/study/NCT04716101.

Critical relevance statement
Ultrasound shows elevated TLF shear strain in lower back pain sufferers compared to controls. This correlates with symptoms, suggesting a role as a pain generator. Further investigation into its anatomy, mechanical characteristics, and pathophysiology is crucial for better understanding.

Key Points

Structural and mechanical alterations of the TLF may contribute to low back pain.

Elevated TLF lateral shear strain was found in patients with NSLBP.

A brief standardized massage therapy technique did not influence elastography parameters.

Graphical Abstract
Effect of degassing on scaling in hypersaline system: Tuzla geothermal field, Turkey
Authors: Tonkul Serhat , André Laurent , Baba Alper , Demir Mustafa M. , Regenspurg Simona , Kieling Katrin 
Published: January 2025

Abstract
A serious issue with geothermal power plants is the loss of production and decline in power plant efficiency. Scaling, also known as mineral precipitation, is one of the frequently-observed issue that causes this loss and decreasing efficiency. It is heavily observed in the production wells when the geothermal fluid rises from the depths due to a change in the fluid’s physical and chemical properties. Scaling issue in geothermal power plants result in significant output losses and lower plant effectiveness. In rare instances, it might even result in the power plant being shut down. The chemistry of the geothermal fluid, non-condensable gases, pH, temperature and pressure changes in the process from production to reinjection, power plant type and design, and sometimes the materials used can also play an active role in the scaling that will occur in a geothermal system. ICP–MS was used to evaluate the chemical properties of the fluids. On the other hand, XRD, XRF and SEM were used to investigate the chemical and mineralogical compositions of the scale samples in analytical methods. For the numerical approach, PhreeqC and GWELL codes were used to follow the chemical reactivity of the geothermal fluid in Tuzla production well. The novelty of this study is to determine potential degassing point and to characterize the mineralogical assemblage formed in the well because of the fluid composition, temperature and pressure variations. During production, geothermal fluids degas in the wellbore. This causes a drastic modification of the chemistry of the Tuzla fluids. This is why it is focused the calculations on the nature of the minerals that are able to precipitate inside the well. According to simulation results, the degassing point is estimated to be about 105 m depth, consistent with the field observations. If a small quantity of precipitated minerals is predicted before the boiling point, degassing significantly changes the fluid chemistry, and the model predicts the deposition of calcite along with smaller elements including galena, barite, and quartz. The simulation results are consistent with the mineral composition of scaling collected in the well.
The Association Between Serum Polychlorinated Biphenyls and Incident Cardiovascular Disease Among Type 2 Diabetes
Authors: An Jun , Zhang Shiyang , Cheng Xu , Jia Chengyong , Zhang Xin , Yan Yan , Zhao Zhuoya , Liu Yuenan , Guan Youbing , Li Peiwen , Zhang Jin , He Meian 
Published: January 2025

Abstract

Background
Polychlorinated biphenyls (PCBs) are associated with cardiovascular disease (CVD) in the general population. However, it is unclear whether PCB exposure increases the additional risk of CVD among type 2 diabetes (T2D) cases. This study aims to investigate the associations between serum concentrations of PCBs and incident CVD among T2D cases.

Methods
The study population was derived from the Dongfeng-Tongji cohort in 2008 and followed up until December 31, 2018, with a total of 2806 participants with T2D included; 1180 of them developed CVD during the follow-up. Cox proportional hazard regression models and quantile g-computation method were conducted for the associations of serum PCB levels with incident CVD risk.

Results
Compared with the first quartile, the risk of incident CVD was increased by 25%, 30%, and 28% in the fourth quartile of serum concentrations of PCB28, PCB52, and PCB101, respectively. Similar results were obtained for lower-chlorinated PCBs (PCB28 + PCB52 + PCB101) with a hazard ratio (95% confidence interval) of 1.257 (1.063, 1.486) and 1.346 (1.139, 1.589) in the third and fourth quartiles, respectively (P trend = .001). Quantile g-computation indicated that mixed exposure to PCBs increased the risk of CVD, and the top 3 weights of PCB congeners were PCB101, PCB52, and PCB28.

Conclusion
Serum PCB independently increased the risk of incident CVD among T2D cases, in which lower-chlorinated PCBs played a dominant role.
Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review
Authors: Urbańska Sylwia , Witas Aleksandra , Borowska-Łygan Martyna , Pięta Justyna 
Published: January 2025

Introduction and Objective: Rett syndrome (RTT) is a genetic neurodevelopmental disorder that predominantly affects the female. The disease develops after 6 months of age causing abnormalities in the child's development. The aim of this article is to bring together the latest information and clinical, genetic and therapeutic perspectives on RTT.
Review Methods: The review was based on publicly available PubMed and Google Scholar, Web of Science and Scopus databases from 2019 to 2024 using the following phrases: rett syndrome, rett syndrome treatment, rett syndrome rehabilitation, MECP2. Publications were analyzed using a non-systematic review method to create a brief synthesis of the available information.
Brief Description of the State of Knowledge: Rett syndrome is characterised by a loss-of-function mutation in the MECP2 gene, which is located on the long arm of the X chromosome. The diagnosis is confirmed by clinical criteria such as complete loss of acquired targeted hand skills, spoken language, gait abnormalities and confirmation of the mutation in the MECP2 gene. Treatment focuses on multidisciplinary management of the symptoms associated with the disease and an individualised rehabilitation programme. Recent studies show positive effects of trofinetide treatment, and gene therapy, genome editing and ataluren promise to be a promising treatment for RTT.
Summary: The authors highlight the need for development of early diagnosis of RTT in infants, rehabilitation focused on family-centred care (FCC) and the need for further research towards innovative treatments for Rett Syndrome.
Exploring knowledge of first aid in epistaxis—25 years on
Authors: Dunne Henry , Abouabdallah Michael , Roscamp Joseph , Birks Samuel , Mcgibbon Kate , Dewhurst Sam , Strachan David , Sharma Rishi 
Published: January 2025

Background
Epistaxis is the most common acute disorder managed by ENT services. A 1998 survey (Strachan and England) demonstrated widespread ignorance of correct first aid amongst the public with only 11% of respondents applying correct first aid techniques. Here we repeated and expanded the 1998 study to investigate whether understanding of correct first aid in epistaxis amongst the public and emergency department staff has improved in the last 25 years.

Methods
Posters with links to surveys were displayed in ED waiting rooms, anticoagulation clinics and ED staff rooms in multiple UK centres. Responders were asked three first aid questions: pinch position, head position, and plugging nostrils. A prospective audit was carried out in a single centre over four weeks recording the first aid was being applied at the point of ENT review for patients referred with epistaxis.

Findings
129 members of public responded. 83% do not have correct first aid technique including 77% of those on anticoagulants or aspirin. 116 ED staff responded. 64% do not use correct first aid. Over four weeks 19 patients were referred to ENT with epistaxis and of these, nine were bleeding at the point of ENT review. Adequate first aid was not being applied in 56% of those cases.

Conclusions
Despite the morbidity of epistaxis, and the simplicity of first aid steps, there is concerning lack of understanding amongst the public and ED staff. Education (particularly for staff and the anticoagulated) may reduce emergency attendance in epistaxis patients.
Are men’s gender equality beliefs associated with self-reported intimate partner violence perpetration? A state-level analysis of California men
Authors: Closson Kalysha , Johns Nicole E. , Raj Anita 
Published: January 2025

Objectives
To assess the association between gender equality beliefs and self-reported intimate partner violence (IPV) perpetration among California men.

Methods
We analyzed men’s data (N = 3609) from three waves (2021, 2022, and 2023) of cross-sectional data from a statewide sample of California adults. We assessed gender equality beliefs using a three-item measure adapted from the World Values Survey, with higher scores representing more gender unequal beliefs (e.g., ‘On a whole, men make better political leaders than women’). We assessed IPV perpetration in the last year by asking a) whether men committed any form of violence in the last year (physical violence, use or threat of violence with a weapon, sexual violence) and b) among those who reported committing violence, who they committed violence against. Those reporting violence against “a spouse or romantic partner” were categorized as perpetrating past-year IPV. Analyses were weighted to yield population estimates. Crude and adjusted logistic regression models evaluated the association between gender equality beliefs and past-year IPV perpetration.

Results
Almost 2% of men–equivalent to more than 280,000 men in California—reported IPV perpetration in the past year [1.9% (95%CI = 1.4–2.5)], and every one-point increase in their gender equality belief scale score [indicative of less gender equitable beliefs] was associated with 2.1 times greater odds of perpetrating past-year IPV (AOR: 2.14, 95%CI 1.61–2.86).

Conclusions
Findings support prior research indicating that patriarchal beliefs reinforce men’s violence against women in relationships and signal a need for violence prevention efforts focused on boys and men to that can include normative belief shifts related to women’s capacities.
Dental caries and related factors in the elderly of the Azar cohort population: A cross-sectional study
Authors: Hosseinpour Sarmadi Maryam , Sharififard Nasrin , Mahboobi Zeinab , Faramarzi Elnaz , Bilehjani Aylin 
Published: January 2025

Objective
Oral health is often overlooked among the elderly due to the numerous comorbidities prevalent in this population. However, oral health significantly influences quality of life by affecting both general health and psychological well-being. The present study aimed to assess dental caries in elderly individuals using the DMFT index (decayed, missing, and filled teeth) and to explore its relationship with various factors based on data from the Azar cohort study in Iran.

Materials and methods
In this cross-sectional study, data from the initial phase of the Azar cohort study, which involved 2629 elderly individuals (aged 60 years and older), were statistically analyzed. The Azar cohort study evaluated demographic factors, the history of chronic diseases, and behavioral habits using a well-designed questionnaire administered through face- to -face interviews. The DMFT index was evaluated through oral examination. A negative binomial regression analysis with a log link function was employed to investigate the relationship between the DMFT and related variables, including gender, age, marital status, level of education, socioeconomic status, chronic diseases, smoking, alcohol consumption, and body mass index.

Results
The mean (SD) age of elderly individuals was 64.15±2.91 years. The mean (SD) DMFT was 28.42±6, and the mean (SD) number of missing teeth was 26.58±8.36. Approximately 70.8% of elderly individuals were edentulous. Women exhibited a higher mean DMFT score and a greater number of missing teeth compared to men. The mean DMFT score and its components significantly differed based on the level of education and socioeconomic status. However, no significant relationship was found between the DMFT index and the variables in the multiple regression analysis.

Conclusion
The high prevalence of edentulism and the elevated DMFT scores in the elderly population of the Azar cohort indicate a poor oral health status among older individuals. Providing the dental services within the primary health care system for the adults, can be beneficial in improving oral health in old age.
Kynurenines and aerobic exercise capacity in chronic kidney disease: A cross-sectional and longitudinal study
Authors: Wallin Helena , Jansson Eva , Erhardt Sophie , Wallquist Carin , Hylander Britta , Jacobson Stefan H. , Caidahl Kenneth , Rickenlund Anette , Eriksson Maria J. 
Published: January 2025

Background
The causes of reduced aerobic exercise capacity (ExCap) in chronic kidney disease (CKD) are multifactorial, possibly involving the accumulation of tryptophan (TRP) metabolites such as kynurenine (KYN) and kynurenic acid (KYNA), known as kynurenines. Their relationship to ExCap has yet to be studied in CKD. We hypothesised that aerobic ExCap would be negatively associated with plasma levels of TRP, KYN and KYNA in CKD.

Methods
We included 102 patients with non-dialysis CKD stages 2–5 (CKD 2–3, n = 54; CKD 4–5, n = 48) and 54 healthy controls, age- and sex-matched with the CKD 2–3 group. ExCap was assessed as peak workload during a maximal cycle ergometer test. Plasma KYN, KYNA and TRP were determined by high-performance liquid chromatography. Kidney function was evaluated by glomerular filtration rate (GFR) and estimated GFR. The CKD 2–3 group and healthy controls repeated tests after five years. The association between TRP, KYN, KYNA and ExCap in CKD was assessed using a generalised linear model.

Results
At baseline, there were significant differences between all groups in aerobic ExCap, KYN, KYNA, TRP and KYN/TRP. KYNA increased in CKD 2–3 during the follow-up period. In CKD 2–5, KYNA, KYN/TRP and KYNA/KYN were all significantly negatively associated with ExCap at baseline, whereas KYN and TRP were not. Kynurenines were significantly correlated with GFR (p < 0.001 for all). Including GFR in the statistical model, no kynurenines were independently associated with ExCap at baseline. At follow-up, the increase in KYN and KYN/TRP was related to a decrease in ExCap in CKD 2–3. After adjusting for GFR, increase in KYN/TRP remained an independent significant predictor of a decline in ExCap in CKD 2–3.

Conclusion
Aerobic ExCap was inversely associated with plasma levels of kynurenines in CKD at baseline and follow-up.