bluuebunny/crossref_metadata_2025 huggingface dataset:
Remote monitoring of patients with COPD disease using a tablet system: a randomised crossover study of quality-of-life measurements
Authors: Frerichs Malte , Li Huiqi , Andersson Anders , Andelid Kristina , Crona Monica , Vanfleteren Lowie E.G.W.
Published: September 2024

Background

Remote patient monitoring (RPM) has been evaluated in COPD, but with varying results. We aimed to evaluate whether a tablet system that monitors disease-related parameters in patients with COPD could influence physical and mental health-related quality of life, compared with usual care (UC).

Methods

70 patients with Global Initiative for Chronic Obstructive Lung Disease (GOLD) group D COPD (61% women, aged 71±8 years, forced expiratory volume in 1 s % predicted 41±13%, COPD Assessment Test (CAT) 19±7 points) were recruited at the COPD centre in Gothenburg, Sweden, and randomised to a tablet-based RPM system or UC for a 26-week period, after which they crossed over to the alternative management for another 26 weeks. The Short Form-12 (SF-12) (primary outcome), CAT, modified Medical Research Council (mMRC) Dyspnoea Scale, EuroQol-5 Dimensions (EQ-5D) and Hospital Anxiety and Depression Scale (HADS) were evaluated at four visits. Exacerbations were continuously reported, as was adherence to RPM.

Results

59 patients completed the study: 28 patients randomised to start with UC and 31 randomised to start with RPM. The changes in the SF-12 Physical Component Summary (PCS) (UC: −1.17±6.90versusRPM: −1.06±8.15) and Mental Component Summary (MCS) (UC: 0.63±11.14versusRPM: −0.63±8.15), as well as in CAT, the mMRC scale, the EQ-5D, HADS anxiety, HADS depression and number of exacerbations, were similar in both intervention periods. Neither the 26-week UC period nor the intervention significantly affected the measured outcomes. There was a 95% adherence rate during RPM.

Conclusions

A 26-week tablet-based RPM system that monitors CAT, oxygen saturation, blood pressure, pulse, weight and physical activity, connected to a case manager, is feasible and safe, but did not influence health-related quality of life in patients with COPD GOLD D.
Repeat expansions inRFC1gene in refractory chronic cough
Authors: Hirons Barnaby , Cho Peter S.P. , Rhatigan Katie , Shaw Joe , Curro Riccardo , Rugginini Bianca , Dominik Natalia , Turner Richard D. , Mackay Ewan , Hull James H. , Abubakar-Waziri Hisham , Kesavan Harini , Jolley Caroline J. , Hadden Robert D. , Cortese Andrea , Birring Surinder S.
Published: September 2024

Introduction

Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity.RFC1disorders are genetic neurodegenerative conditions caused by biallelicRFC1repeat expansion sequences, commonly presenting with cough, followed by neurological features including cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). The prevalence and identifying clinical characteristics ofRFC1repeat-expansion disorders in patients with RCC are unknown.

Methods

Consecutive patients with RCC underwentRFC1genotyping, cough severity visual analogue scale (VAS) and cough-specific health status assessment (Leicester Cough Questionnaire (LCQ)). Participants with biallelicRFC1repeat expansions (RFC1++) also underwent nerve conduction studies, brain imaging (MRI) and cough reflex sensitivity testing.

Results

51 participants with RCC were recruited; 36 (71%) female, median (IQR) age 65 (56–70) years, duration of cough 12.8 (6.9–20.0) years. Four (8%) were RFC1++, five (10%) monoallelic carriers (RFC1+−) and 42 (82%) of wild-type genotype (RFC1−−). No difference was observed in age, sex, cough duration, spirometry, VAS or LCQ scores between RFC1++and RFC1−−subjects (p>0.05). The symptom of pins and needles was more frequent in RFC1++(n=4, 100%) compared to RFC1−−(n=12, 33%) (p=0.01). RFC1++participants had impaired sensory action potentials, and one had cerebellar atrophy. RFC1++participants had heightened cough reflex sensitivity to capsaicin, similar to previous CANVAS and RCC studies.

Conclusion

Biallelic RFC1 repeat expansions (RFC1++) were present in 8% of RCC patients. RFC1++participants demonstrated features of cough reflex hypersensitivity. RFC1++chronic cough had few identifying features, although symptoms of pins and needles were more common.
A strong association between TTF-1 expression and interstitial lung disease in predicting the efficacy of PD-1 inhibitor for nonsquamous NSCLC patients
Authors: Ito Masaru , Honda Takayuki , Onishi Iichiroh , Endo Satoshi , Mochizuki Akifumi , Nishiyama Naoki , Sakakibara Rie , Takahashi Susumu , Kumagai Takashi , Hata Koki , Yoshii Sao , Nakamura Kentaro , Yamashita Takaaki , Tsukada Yoshikazu , Chiaki Tomoshige , Miyashita Yoshihiro , Natsume Ichirou , Saitou Kazuhito , Miyazaki Yasunari
Published: September 2024

Background

Thyroid transcriptional factor-1 (TTF-1) is associated with the development of interstitial lung disease (ILD) and is a mutational target in lung adenocarcinoma with ILD. TTF-1 expression is also associated with the efficacy of pemetrexed-based chemotherapy for nonsquamous nonsmall cell lung cancer (NS-NSCLC). However, the relationship between TTF-1 expression and the efficacy of immunotherapy using programmed cell death 1 inhibitor (PD-1i), especially in lung cancer patients with ILD, remains unclear.

Methods

Medical data of NS-NSCLC patients treated with PD-1i at multiple centres were analysed retrospectively. Patients were divided into those with or without concomitant ILD, with the two cohorts further stratified by TTF-1 expression.

Results

The study population included 62 NS-NSCLC patients, 34 with and 28 without ILD. Median progression-free survival (PFS) during PD-1i treatment was significantly shorter in TTF-1-negative than -positive patients (2.0versus12.1 months, p=0.004) in the ILD cohort but did not differ significantly in the non-ILD cohort (1.8versus2.6 months, p=0.63). Median overall survival (OS) was also significantly shorter in TTF-1-negative than -positive patients in the ILD cohort (14.5versus42.5 months, p=0.018) but not in the non-ILD cohort (33.7versus37.1 months, p=0.53). Cox regression analyses showed that absence of TTF-1 expression was an independent risk factor for PFS (hazard ratio (HR) 2.75, p=0.024) and OS (HR 2.81, p=0.012) in the ILD cohort.

Conclusion

TTF-1 expression in NS-NSCLC patients with ILD may predict prognosis when treated with PD-1i.
Laser Powder Bed Fusion of Multifunctional Bio-inspired Vertical Honeycomb Sandwich Structures: For the Application of Lightweight Bipolar Plates of Proton Exchange Membrane Fuel Cells
Authors: Lin Kaijie , Xu Yong , Gu Dongdong , Shan Junhao , Shi Keyu , Zhang Wanli
Published: September 2024

The bipolar plate (BPP) is a crucial component of proton exchange membrane fuel cells (PEMFC). However, the weight of BPPs can account for around 80% of a PEMFC stack, posing a hindrance to the commercialization of PEMFCs. Therefore, the lightweight design of BPPs should be considered as a priority. Honeycomb sandwich structures meet some requirements for bipolar plates, such as high mechanical strength and lightweight. Animals and plants in nature provide many excellent structures with characteristics such as low density and high energy absorption capacity. In this work, inspired by the microstructures of the Cybister elytra, a novel bio-inspired vertical honeycomb sandwich (BVHS) structure was designed and manufactured by laser powder bed fusion (LPBF) for the application of lightweight BPPs. Compared with the conventional vertical honeycomb sandwich (CVHS) structure formed by LPBF under the same process parameters setting, the introduction of fractal thin walls enabled self-supporting and thus improved LPBF formability. In addition, the BVHS structure exhibited superior energy absorption (EA) capability and bending properties. It is worth noting that, compared with the CVHS structure, the specific energy absorption (SEA) and specific bending strength of the BVHS structure increased by 56.99% and 46.91%, respectively. Finite element analysis (FEA) was employed to study stress distributions in structures during bending and analyze the influence mechanism of the fractal feature on the mechanical properties of BVHS structures. The electrical conductivity of structures were also studied in this work, the BVHS structures were slightly lower than the CVHS structure. FEA was also conducted to analyze the current flow direction and current density distribution of BVHS structures under a constant voltage, illustrating the influence mechanism of fractal angles on electrical conductivity properties. Finally, in order to solve the problem of trapped powder inside the enclosed unit cells, a droplet-shaped powder outlet was designed for LPBF-processed components. The number of powder outlets was optimized based on bending properties. Results of this work could provide guidelines for the design of lightweight BPPs with high mechanical strength and high electrical conductivity.
Conventional versus high-voltage, long-term pulse Radiofrequency of ganglion impar in perineal pain with advanced rectal cancer: a Randomized, double-blind controlled trial
Authors: Li Qin , Wang Huaiming , Zhong Bo , Zhang Taomei , Wang Zhiqiang , Tao Ping , Zou Jiang , Zhang Aimin
Published: September 2024

Study objective

Advanced rectal cancer is a common cause of perineal pain and research on the use of radiofrequency therapy for the treatment of this pain is limited. In the present study, we aimed to compare the effectiveness and safety of conventional radiofrequency (CRF) and high-voltage long-term pulsed radiofrequency (H-PRF) of radiofrequency therapy in the management of perineal pain in advanced rectal cancer.

Design

Randomized, Double-Blind Controlled Trial.

Setting

Sichuan Cancer Hospital & Institute and Yanjiang District People’s Hospital in Sichuan, China.

Participants

A total of 72 patients with advanced rectal cancer experiencing perineal pain who were accepted for radiofrequency treatment.

Interventions

Patients were assigned randomly (1:1) assigned to either the group CRF or H-PRF in a double-blind trial.

Measurements and main results

The primary focus was on assessing perineal pain using numeric rating scales (NRS) scores at various time points. Secondary outcomes included the duration of maintaining a sitting position, depression scores, sleep quality, consumption of Oral Morphine Equivalent and Pregabalin, and the incidence of perineal numbness. A total of 57 patients (28 patients in the group CRF and 29 patients in the group H-PRF) were investigated. At all observation time points postoperatively, both groups of patients exhibited significant reductions in pain, enhancements in depression, improvements in sleep quality, and increased duration of sitting compared to their baseline measurements (P<0.05). During the 3 months and 6 months follow-up period, the group CRF exhibited significant reduction in pain, improvement in depression, sleep quality, and increased the time of keeping a sitting position compared with the group H-PRF (P<0.05). The consumption of oral morphine equivalent and Pregabalin as well as the incidence of perineal numbness were not significantly different between groups (P > 0.05).

Conclusion

Our results demonstrate that application of CRF and H-PRF in ganglion impar to reduce perineal pain and improve the quality of life of patients with advanced rectal cancer is safe and effective. However, the long-term effect of CRF is better compared with that of H-PRF.

Trial registration

https://www.chictr.org.cn/ (ChiCTR2200061800) on 02/07/2022. This study adheres to CONSORT guidelines.
Primary healthcare practitioners’ perspectives on trauma-informed primary care: a systematic review
Authors: Bulford Eleanor , Baloch Surriya , Neil Jennifer , Hegarty Kelsey
Published: September 2024

Background

Exposure to domestic and family violence is a pervasive form of complex trauma and a major global public health problem. At the frontline of the health system, primary healthcare practitioners are uniquely placed to support individuals with experiences of trauma, yet their views on trauma-informed primary care are not well understood. This systematic review of qualitative literature sought to explore primary healthcare practitioners’ perspectives on trauma-informed primary care.

Methods

Eight databases were searched up to July 2023. Studies were included if they consisted of empirical qualitative data, were conducted in general practice or equivalent generalist primary healthcare settings, and included the perspectives of primary healthcare practitioners where they could be distinguished from other participants in the analysis. Thematic synthesis was used for analysis.

Results

13 papers met inclusion criteria, representing primary care settings from the United States, Canada, Australia, and Norway. Three key themes were developed: Changing the paradigm, Building trust, and Navigating the emotional load. Findings shed light on how primary healthcare practitioners perceive and strive to practise trauma-informed primary healthcare and the challenges of navigating complex, trauma-related work in the primary care environment.

Conclusions

This review supports the need for recognition of the value of primary care in supporting patients with histories of trauma and violence, the development of interventions to mitigate the emotional load worn by primary healthcare practitioners, and further work to develop a deep and consistent understanding of what trauma-informed primary care encompasses.
Learning for life, friendships and relationships from the perspective of children and young people with intellectual disabilities: findings from a UK wide qualitative study
Authors: Brown Michael , Linden Mark , Marsh Lynne , Truesdale Maria , Sheerin Fintan , McCormick Freda
Published: September 2024

Background

Relationships and sexuality education (RSE) programmes are widely taught in schools, however for children and young people with intellectual disabilities, these programmes appear to be limited regarding information on relationships, informed choices and decision making. The purpose of this study was to seek the views and understanding of children and young people with intellectual disabilities, and those involved in their care and education, to identify best practice and approaches to the delivery on relationships and sexuality education.

Methods

This study used a qualitative design with 37 pupils from five special schools from across the United Kingdom (UK) participating. In-depth semi-structured interviews were held online, or in person. All interviews were recorded and transcribed verbatim. Transcripts were anonymised, assigned a pseudonym and subjected to inductive thematic analysis.

Findings

Four themes emerged from the data: (i) enthusiasm and inquisitiveness to acquire knowledge; (ii) dynamics of positive friendships; (iii) experiences and understanding of supportive relationships and sexuality; and (iv) valuing the exchange of knowledge and information. The findings highlight that children and young people with intellectual disabilities want education, support and information on matters relating to their relationships and sexuality.

Conclusions

This is the largest study to date providing a voice to children and young people with intellectual disabilities regarding their relationships and sexuality. While special schools provide relationships and sexuality education, there is a requirement for a programme and resources specific to the needs of pupils with intellectual disabilities to be developed and evaluated. Such education should continue beyond school and be embedded in adult services.
Trends in Norwegian adolescents’ substance use between 2014 and 2022: socioeconomic and gender differences
Authors: Myhr Arnhild , Vesterbekkmo Renate K. , Samarawickrema Indira , Sund Erik R.
Published: September 2024

Background

Substance use is a global health concern and early onset among adolescents increases health risks. We explore national overall trends in prevalence and trends in socioeconomic inequalities in past year alcohol intoxication, cannabis use, and use of other illicit drugs among Norwegian adolescents (ages ∼ 15–19 years of age) between 2014 and 2022.

Method

The present study builds on data from a nationwide repeated cross-sectional survey collected in 2014–2016 (T1), 2017–2019 (T2), 2021 (T3) and 2022 (T4). In total 415,560 adolescents (50.3% girls) completed the questionnaire during the study period. Trends in socioeconomic inequalities were assessed using the Slope Index of Inequality (SII) and the Relative Index of Inequality (RII).

Results

While the prevalence of alcohol intoxication remained fairly stable, the prevalence of cannabis and other illicit drug use increased between 2014 and 2022 among upper secondary school boys (13.3–17.6%, and 2.0–5.2%, respectively) and girls (8.8–12.8%, and 1.1–2.7%, respectively). Similar trends were observed among 10th-grade adolescents. Boys were more likely than girls to use cannabis or other illicit drugs, but the gender gap in cannabis use narrowed during the study period. Among upper secondary girls, use of cannabis and other illicit drugs was higher among those from less affluent backgrounds, with absolute and relative inequalities in cannabis use increasing between 2014 and 2022. Small inequalities in cannabis use and decreasing relative inequalities in the use of other illicit drug were observed among upper secondary boys.

Conclusions

The increasing use of cannabis and other illicit drugs among Norwegian adolescents is concerning. Future studies should explore the underlying causes of this rise and explore the complex factors influencing adolescent substance use behaviours. A comprehensive understanding of these factors is essential for developing targeted and effective interventions.
Work hours and the risk of hypertension: the case of Indonesia
Authors: Andini Friska Aulia Dewi , Siregar Adiatma Y. M.
Published: September 2024

Background

Individuals working excessive hours is a worldwide phenomenon. In Indonesia, over 32 million people work more than 40 h per week, contributing to around 26% of the workforce. Excessive working may affect health, increasing the risk of cardiovascular diseases such as hypertension. Hypertension affected around 34% of Indonesian adults, approximately 63.3 million people and led to about 427,000 deaths in 2018, and the prevalence remains high at 29.2% in 2023. This study aims to analyze the relationship between work hours and the risk of hypertension among working individuals in Indonesia.

Methods

This study used a pooled cross-sectional data from the Indonesian Family Life Survey (IFLS) wave 4 (2007) and wave 5 (2014) and performed a logit regression analysis to examine the likelihood of a working individual having hypertension based on the individual’s work hours. A dummy variable of hypertension is created based on the result of blood pressure measurement. The sample consists of 22,500 working individuals in Indonesia. This study controlled for job characteristics, sociodemographic status and health-behavioral risk factors such as BMI and smoking behavior, and performed additional regression analyses for alternative models to check for robustness.

Results

Our findings showed that there is a higher probability of having hypertension for workers who work longer hours by 0.06% points for each additional hour of work (p < 0.01). Other factors such as physical activity and smoking behavior have also been demonstrated to be significantly correlated to the risk of hypertension.

Conclusions

This study revealed a positive relationship between work hours and hypertension. Although this study cannot suggest causality, the strongly significant correlation may provide an idea and an overview regarding the risk of hypertension among working individuals in Indonesia. The Indonesian government could consider conducting further studies to implement and promote flexible working arrangements initiatives and incentive programs to improve workers’ health outcomes.
Evaluating the impact of extended dosing intervals on mRNA COVID-19 vaccine effectiveness in adolescents
Authors: Tsang Tim K. , Sullivan Sheena G. , Meng Yu , Lai Francisco Tsz Tsun , Fan Min , Huang Xiaotong , Lin Yun , Peng Liping , Zhang Chengyao , Yang Bingyi , Ainslie Kylie E. C. , Cowling Benjamin J.
Published: September 2024

Background

Extending the dosing interval of a primary series of mRNA COVID-19 vaccination has been employed to reduce myocarditis risk in adolescents, but previous evaluation of impact on vaccine effectiveness (VE) is limited to risk after second dose.

Methods

We quantified the impact of the dosing interval based on case notifications and vaccination uptake in Hong Kong from January to April 2022, based on calendar-time proportional hazards models and matching approaches.

Results

We estimated that the hazard ratio (HR) and odds ratio (OR) of infections after the second dose for extended (28 days or more) versus regular (21–27 days) dosing intervals ranged from 0.86 to 0.99 from calendar-time proportional hazards models, and from 0.85 to 0.87 from matching approaches, respectively. Adolescents in the extended dosing groups (including those who did not receive a second dose in the study period) had a higher hazard of infection than those with a regular dosing interval during the intra-dose period (HR 1.66; 95% CI 1.07, 2.59; p = 0.02) after the first dose.

Conclusions

Implementing an extended dosing interval should consider multiple factors including the degree of myocarditis risk, the degree of protection afforded by each dose, and the extra protection achievable using an extended dosing interval.
A systems serology approach to identifying key antibody correlates of protection from cerebral malaria in Malawian children
Authors: Walker Isobel S. , Dini Saber , Aitken Elizabeth H. , Damelang Timon , Hasang Wina , Alemu Agersew , Jensen Anja T. R. , Rambhatla Janavi S. , Opi D. Herbert , Duffy Michael F. , Takashima Eizo , Harawa Visopo , Tsuboi Takafumi , Simpson Julie A. , Mandala Wilson , Taylor Terrie E. , Seydel Karl B. , Chung Amy W. , Rogerson Stephen J.
Published: September 2024

Background

Plasmodium falciparum erythrocyte membrane protein 1 (PfEMP1) proteins are expressed on the surface of infected erythrocytes, mediating parasite sequestration in the vasculature. PfEMP1 is a major target of protective antibodies, but the features of the antibody response are poorly defined.

Methods

In Malawian children with cerebral or uncomplicated malaria, we characterized the antibody response to 39 recombinant PfEMP1 Duffy binding like (DBL) domains or cysteine-rich interdomain regions (CIDRs) in detail, including measures of antibody classes, subclasses, and engagement with Fcγ receptors and complement. Using elastic net regularized logistic regression, we identified a combination of seven antibody targets and Fc features that best distinguished between children with cerebral and uncomplicated malaria. To confirm the role of the selected targets and Fc features, we measured antibody-dependent neutrophil and THP-1 cell phagocytosis of intercellular adhesion molecule-1 (ICAM-1) and endothelial protein C (EPCR) co-binding infected erythrocytes.

Results

The selected features distinguished between children with cerebral and uncomplicated malaria with 87% accuracy (median, 80–96% interquartile range) and included antibody to well-characterized DBLβ3 domains and a less well-characterized CIDRγ12 domain. The abilities of antibodies to engage C1q and FcγRIIIb, rather than levels of IgG, correlated with protection. In line with a role of FcγRIIIb binding antibodies to DBLβ3 domains, antibody-dependent neutrophil phagocytosis of ICAM-1 and EPCR co-binding IE was higher in uncomplicated malaria (15% median, 8–38% interquartile range) compared to cerebral malaria (7%, 30–15%, p < 0.001).

Conclusions

Antibodies associated with protection from cerebral malaria target a subset of PfEMP1 domains. The Fc features of protective antibody response include engagement of FcγRIIIb and C1q, and ability to induce antibody-dependent neutrophil phagocytosis of infected erythrocytes. Identifying the targets and Fc features of protective immunity could facilitate the development of PfEMP1-based therapeutics for cerebral malaria.
Investigation of hydrochemical characteristic, water quality and associated health risks of metals and metalloids in water resources in the vicinity of Akamkpa quarry district, southeastern, Nigeria
Authors: Ikpi George E. , Nganje Therese N. , Edet Aniekan , Adamu Christopher I. , Eyong Godswill A.
Published: September 2024

Quarrying of rock aggregates generates produced water that, if not handled properly will be a source of pollution for nearby water bodies, thus affecting the chemistry of the water. This study examined the chemistry, impact of quarrying activities on water resources and the health consequences/risks posed by ingestion of the water by humans in the Akamkpa quarry region in southeastern Nigeria. Thirty (30) water samples consisting of pond water, stream water, hand dug wells, and borehole samples were collected and analyzed for their physicochemical parameters using standard methods. The results obtained from the analyses indicated that the water was moderately acidic, fresh, and not salty, with many parameters below the recommended standards with Ca2+, and HCO3−being the dominant ions present in the water resources. Rock weathering processes including silicate weathering as illustrated by hydrochemical facies, cross plots, and Gibbs diagrams are the dominant mechanisms influencing the quality and major ions chemistry of the water resources with minor contributions from dissolution, anthropogenic activities, and ion exchange. Ca-Mg-SO4-Cl and Na–K-HCO3−are the most important water types. Although the water quality index shows that the water is suitable for human use and irrigation, the mean values of As, Cd, Pb, and Se are above the acceptable limits. Additionally, the calculated contamination factor revealed the water resources are moderate to highly contaminated by As, Cd, Cr, Mo, Pb, Sb, and Se, and are therefore unsuitable for consumption with regards to these parameters. However, the residual sodium carbonate and water hazard index (WHI) values showed that 38% to 90% of sites in the quarry area were unsuitable for cultivation, 10–30% were in the low to medium impact category, and 60% were classified as risky and are from high to very high impact category. A non-cancer study of inhabitants living in the vicinity of the quarry area indicated that 6.7% of the sites have values greater than one, indicating that it may endanger the health of the people. Therefore, constant monitoring of the water quality is recommended as long-term use of contaminated water can harm humans, plants, and soils.
Association of nonalcoholic fatty liver disease with new-onset atrial fibrillation stratified by age groups
Authors: Cho Eun Ju , Chung Goh Eun , Yoo Jeong-Ju , Cho Yuri , Lee Kyu Na , Shin Dong Wook , Kim Yoon Jun , Yoon Jung-Hwan , Han Kyungdo , Yu Su Jong
Published: September 2024

Background

The association between nonalcoholic fatty liver disease (NAFLD) and atrial fibrillation (AF) has been inconsistent, and the impact of hepatic fibrosis on this relationship remains uncertain. We investigated the association between NAFLD and the risk of new-onset AF across different age groups.

Methods

A total of 3,179,582 participants from the 2009 Korean National Health Screening Program were divided into five groups based on NAFLD status: no NAFLD (fatty liver index [FLI] < 30); grade 1 NAFLD without advanced fibrosis (FLI 30–59 & BARD < 2); grade 1 NAFLD with advanced fibrosis (FLI 30–59 & BARD ≥ 2); grade 2 NAFLD without advanced fibrosis (FLI ≥ 60 & BARD < 2); and grade 2 NAFLD with advanced fibrosis (FLI ≥ 60 & BARD ≥ 2). The primary outcome was incident AF.

Results

During the median follow-up of 9.3 years, 62,542 patients were diagnosed with new-onset AF. In the age- and sex-adjusted model, the risk of new-onset AF increased across NAFLD grades and fibrosis categories: grade 1 NAFLD without advanced fibrosis (hazard ratio [HR] 1.120, 95% confidence interval [CI]: 1.081–1.161); grade 1 NAFLD with advanced fibrosis (HR 1.275, 95% CI 1.251–1.300); grade 2 NAFLD without advanced fibrosis (HR 1.305, 95% CI: 1.252–1.360); and grade 2 NAFLD with advanced fibrosis (HR 1.627, 95% CI: 1.586–1.670). In the multivariate model, the excess risk of AF in patients with NAFLD and advanced fibrosis remained significant, even in participants aged 20–39 years.

Conclusion

Patients with NAFLD had a higher risk of new-onset AF, which increased progressively with NAFLD severity, particularly in those aged 20–29 years.
The association between neighbourhood walkability and blood lipids: a Canadian population study
Authors: Cakmak Sabit , Lukina Anna , Dales Robert
Published: September 2024

We examined the association between walkability and blood lipids in a nationally representative sample of 29,649 participants aged 3–79 years who participated in the Canadian Health Measures Survey (CHMS) cycles 1 to 6. We focused on seven lipid biomarkers: apolipoprotein A (Apo A), apolipoprotein B (Apo B), triglycerides (TG), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), total cholesterol (TC), and TC/HDL. Cross-sectional associations were analyzed using generalized linear mixed models incorporating survey-specific sampling weights. An increase in the Canadian Active Living Environments Index, a measure of neighborhood walkability, equivalent to the magnitude of its interquartile range (IQR) was associated with the following percentage (95% confidence intervals (CI)) changes in lipids: decreased TG, -2.85 (-4.77, -0.93) and TC/HDL, -1.68 (-2.80, -0.56), and increased HDL, 1.68 (0.93, 2.42). Significant effects were largely restricted to adults (aged 17 to 79). In the younger age group there were no significant associations between walkability and lipids in the fully adjusted model. Significant associations were more frequently seen in females than males. For females, fully adjusted significant inverse associations were observed for TG, LDL, and TC/HDL, and there were positive associations with HDL and Apo A. Canadians living in more walkable neighborhoods have more favorable lipid profiles, suggesting that the built environment has the potential to influence the risk profile for cardiovascular health, especially among adults and females.
Intraosseous myofibroma mimicking an odontogenic lesion: case report, literature review, and differential diagnosis
Authors: de Macêdo Santos José Wittor , Benitez Benito K. , Baumhoer Daniel , Schönegg Daphne , Schrepfer Thomas , Mueller Andreas. A. , Thieringer Florian M.
Published: September 2024

Background

Intraosseous myofibroma of the jaw is a rare neoplasm of mesenchymal origin with limited comprehensive understanding. It typically affects patients in the first two decades of life with a male predilection.

Case presentation

This study presents a rare case of myofibroma mimicking an odontogenic lesion in a 2-year-old boy. The patient presented with an incidental finding of a painless swelling of the right mandibular ramus of unknown etiology. Imaging analysis revealed a solid, expansile lesion adjacent to the germinal zone of the right mandibular first molar. Histopathologic analysis and immunohistochemistry after incisional biopsy suggested a possible central odontogenic fibroma, and the patient underwent total enucleation, leading to the final diagnosis of intraosseous myofibroma. Follow-up examinations showed no evidence of recurrence.

Conclusions

This report contributes to the understanding of myofibroma in pediatric patients and underscores the critical role of meticulous histopathologic examination for effective surgical planning and optimal patient outcomes.
Prognostic impact of nectin-like molecule-5 (CD155) expression in non-small cell lung cancer
Authors: Xitlally Popa-Navarro , Alejandro Avilés-Salas , Norma Hernández-Pedro , Mario Orozco-Morales , Enrique Caballé-Pérez , Cesar Castillo-Ruiz , José Lucio-Lozada , Pedro Barrios-Bernal , Juan-Manuel Hernandez-Martinez , Oscar Arrieta
Published: September 2024

Background

CD155 is a transmembrane protein that inhibits antitumor immune response and represents a predictor of worse prognosis in non-small-cell lung cancer (NSCLC). However, it remains unexplored its association with clinical characteristics and genomic status of Latin American patients. This study characterizes the CD155 expression and its clinical implications in this population.

Methods

Tissue biopsies from 86 patients with locally-advanced or metastatic NSCLC were assessed for CD155 protein expression, ALK rearrangements and EGFR mutations. Cutoff values for high CD155 expression (CD155high) were determined from receiver operating characteristic (ROC) curves according to 2-year survival. It was evaluated its association with clinicopathological features, median progression-free survival (mPFS) and overall survival (mOS).

Results

the cutoff score for CD155high was 155 in the entire cohort and in patients without oncogenic alterations, and it was 110 in patients with oncogenic alterations. Eighty-four patients (97.7%) were CD155 positive, of which fifty-six (65.0%) had CD155high. EGFR L858R mutation related to lower CD155 IHC score than exon 19 deletion. Individuals with CD155high showed a shorter mOS (13.0 vs. 30.8 months; HR: 1.96 [95% CI, 1.15–3.35]; p = 0.014). Patients without oncogenic alterations having a CD155high displayed shorter mPFS (1.6 vs. 6.4 months, HR: 2.09 [95% CI, 1.06–4.20]; p = 0.034) and mOS (2.9 vs. 23.1 months; HR: 1.27 [95% CI, 1.07– 4.42]; p = 0.032). Patients with oncogenic alterations having CD155high only showed a trend to shorter mOS (26.3 vs. 52.0 months; HR: 2.39 [95% CI, 0.98–5.83]; p = 0.058).

Conclusion

CD155high is a predictor of worse outcomes in patients with advanced NSCLC, predominantly among those without oncogenic alterations. CD155 could be a potential biomarker and a molecular target in patients with poor responses to current therapies.
Evaluating the effectiveness of a community-based health promotion intervention on knowledge improvement regarding low birth weight and its determinants among antenatal couples in Sri Lanka
Authors: Guruge G. N. Duminda , Young Sansfica M. , Perera K. M. N. , Dharmaratne S. D. , Gunathunga M. W.
Published: September 2024

Background

Improvement of the knowledge of pregnant mothers and their partners related to low birth weight (LBW) is a vital factor in preventing LBW and reducing its prevalence.

Objectives

Implement and evaluate the effectiveness of a community based health promotion intervention on pregnant mothers and their partners to increase knowledge on birth weight and its determinants. The second objective is to determine the difference of the birth weight after implementing the intervention.

Methods

A quasi experimental study design was used, and the setting was 806 pregnant mothers, 403 each in two districts. In 26 ANCs, twenty six initial training sessions were conducted as a group, with an average of three hours for each session. Three follow up sessions were conducted in each ANC over 04 months (in total 104 sessions). All sessions were conducted in groups of 10 to 20 antenatal couples. The pregnant mothers and their partners completed interviewer-administered questionnaires. Pre and post data were analysed based on four major knowledge categories using statistical methods. The McNemar’s Chi Square test; Chi Square test, Fisher’s Exact test, Paired t test, Student’s independent sample t test, Wilcoxon Signed Ranks test and Mann Whitney U test methods were applied as appropriate.

Results

Both mothers and their partners in the intervention group (IG) reached significantly higher gains in knowledge than in the comparison group (CG). The participants who got the lowest scores for knowledge, at the pre assessment, in IG, also improved more than the CG {mothers (p = 0.002) and partners (p = 0.007)}. The mean birth weight shows that the IG has significantly improved for both mothers (p < 0.001) and partners (p = 0.013) with low knowledge scores (< 50% of total).

Conclusions

Knowledge about birth weight and its determinants among pregnant mothers and their partners improved significantly.
DMDD, isolated from Averrhoa carambola L., ameliorates diabetic nephropathy by regulating endoplasmic reticulum stress-autophagy crosstalk
Authors: Shi Jianmei , Wang Yuxiang , Liang Tao , Wang Xixi , Xie Jingxiao , Huang Renbin , Xu Xiaohui , Wei Xiaojie
Published: September 2024

Background

Studies have shown that Averrhoa carambola L. possesses therapeutic potential for diabetes and related complications. However, the specific beneficial effects and molecular mechanisms of 2-dodecyl-6-meth-oxycyclohexa-2,5-diene-1,4-dione (DMDD) isolated from Averrhoa carambola L. on diabetic nephropathy (DN) require further investigation.

Methods

80 C57BL/6 J male mice were subjected to a 1-week adaptive feeding, followed by a high-fat diet and intraperitoneal injection of 100 mg/kg streptozotocin (STZ) to construct an in vivo DN model. Additionally, human renal proximal tubular epithelial cells (HK-2) induced by high glucose (HG) were used as an in vitro DN model. The expression levels of epithelial-mesenchymal transition (EMT), endoplasmic reticulum stress (ERS), and autophagy-related proteins in renal tubular cells were detected by Western Blot, flow cytometry, immunofluorescence, and enzyme-linked immunosorbent assay (ELISA) staining. Transcriptome analysis revealed was conducted to elucidate the specific mechanism of by which DMDD mitigates DN by inhibiting ERS and autophagy. HK-2 cells were transfected with IRE1α overexpression lentivirus to reveal the role of IRE1α overexpression in HG-induced HK-2.

Results

The experimental data showed that DMDD significantly reduced blood glucose levels and improved renal pathological alterations in DN mice. Additionally, DMDD inhibited the calcium (Ca2+) pathway, manifested by decreased autophagosome formation and downregulation of LC3II/I, Beclin-1, and ATG5 expression. Moreover, in HG-induced HK-2 cells, DMDD suppressed the overexpression of GRP78, CHOP, LC3II/I, Beclin1, and ATG5. Notably, IRE1α overexpression significantly increased autophagy incidence; however, DMDD treatment subsequently reduced the expression of LC3II/I, Beclin1, and ATG5.

Conclusion

DMDD effectively inhibits excessive ERS and autophagy, thereby reducing renal cell apoptosis through the IRE1α pathway and Ca 2+ pathway.
Meta-analysis of bone mineral density in adults with phenylketonuria
Authors: Rocha Júlio C. , Hermida Álvaro , Jones Cheryl J. , Wu Yunchou , Clague Gillian E. , Rose Sarah , Whitehall Kaleigh B. , Ahring Kirsten K. , Pessoa André L. S. , Harding Cary O. , Rohr Fran , Inwood Anita , Longo Nicola , Muntau Ania C. , Sivri Serap , Maillot François
Published: September 2024

Background

Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low bone mineral density (BMD) in mixed-age PKU populations, possibly related to long-term Phe restriction. Therefore, a meta-analysis investigating BMD specifically in adults with PKU was conducted.

Methods

Studies reporting BMD-related outcomes were identified from a systematic literature review evaluating somatic comorbidities experienced by adults with PKU on a Phe-restricted diet (searched February 1, 2022, updated November 1, 2023). Risk of study bias was assessed (Scottish Intercollegiate Guidelines Network checklists). The primary outcome of the meta-analysis was pooled mean BMD Z-scores of different bones. Secondary outcomes were the prevalence of low BMD Z-scores at pre-specified thresholds. Subgroup analyses of mean BMD Z-scores (decade of study publication, controlled versus uncontrolled blood Phe levels, gender) were conducted.

Results

BMD-related data from 4097 individuals across 10 studies rated as at least acceptable quality were included. Mean BMD Z-scores were statistically significantly lower compared with an age-matched control or reference (non-PKU) population, across bones, but still within the expected range for age (> -2.0): lumbar spine (seven studies,n = 304), -0.63 (95% confidence interval (CI): -0.74, -0.52); femoral neck (four studies,n = 170), -0.74 (95% CI: -1.25, -0.22); radius (three studies,n = 114), -0.77 (95% CI: -1.21, -0.32); total body (four studies,n = 157), -0.61 (95% CI: -0.77, -0.45). The small number of observations in the subgroup analyses resulted in a high degree of uncertainty, limiting interpretation. Estimated prevalence of BMD Z-scores ≤ -2.0 was 8% (95% CI: 5%, 13%; four studies,n = 221) and < -1.0 was 42% (95% CI: 35%, 51%; five studies,n = 144).

Conclusions

Adults with PKU had lower BMD Z-scores than the reference (non-PKU) population but < 1 in 10 were below the expected range for age. The low number of studies prevents identification of which population characteristics are most impacting BMD.

This meta-analysis was supported by BioMarin Pharmaceutical Inc., Novato, CA and is registered with the Research Registry (reviewregistry1476).
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases
Authors: Wang Yinan , Li Nuoya , Zhang Songyun
Published: September 2024

Porphyria is a group of rare metabolic disorders caused by mutations in the genes encoding crucial enzymes in the heme biosynthetic pathway. However, the lack of comprehensive genetic analysis of porphyria patients in the Chinese population makes identifying and diagnosing carriers of the condition challenging. Using the ChinaMAP database, we determined the frequencies of P/LP porphyria-associated gene variants according to the ACMG guidelines. We also calculated the carrier rates and prevalence of each type of porphyria in the Chinese population under Hardy–Weinberg equilibrium. Compared with the variants in the gnomAD database, the genetic spectrum of porphyria-related P/LP variants in the Chinese population is distinct. In the ChinaMAP database, we identified 23 variants. We estimated the carrier rates for autosomal dominant porphyrias (AIP, HCP, VP, PCT) in the Chinese population to be 1/1059, 1/1513, 1/10588, and 1/1765, respectively. For autosomal recessive porphyrias (ADP, EPP, HEP, CEP), the estimated carrier rates were 1/5294, 1/2117, 1/1765, and 1/2647, respectively, with predicted prevalence rates of 8.92 × 10−9, 7.51 × 10−5, 8.02 × 10−8, and 3.57 × 10−8, respectively. Notably, 12 of the variants we identified were unique to the Chinese population. The predicted prevalence rate of EPP was the highest among the various types of porphyria in the Chinese population, while the others were moderate to low. This is the first comprehensive genetic study on porphyria in the Chinese population. Clarifying the genetic characteristics of various porphyria types among the Chinese population provides scientifically sound reference data for both research and genetic screening to identify porphyria carriers.
Prevalence of hearing loss in pseudohypoparathyroidism
Authors: Djian Cassandre , Berkenou Jugurtha , Rothenbuhler Anya , Botton Jérémie , Linglart Agnès , Nevoux Jérôme
Published: September 2024

Background

The main clinical features of pseudohypoparathyroidism (PHP)/inactivating parathyroid hormone/parathyroid hormone-related protein signaling disorders (iPPSD), including parathyroid hormone (PTH) resistance, brachydactyly and short stature, develop during middle and late childhood. Very few studies have addressed hearing loss in PHP/iPPSD patients, and these studies have yielded widely divergent conclusions. The aim of our study was to assess hearing and determine the predictive factors of hearing loss in patients with PHP/iPPSD.

Methods

Our retrospective cohort study was conducted between March 2019 and May 2020 in the Otolaryngology Department and the calcium phosphate reference center for rare diseases in Bicêtre Paris-Saclay Hospital, France. We retrospectively collected data from patients with PHP/iPPSDs (age, sex, genetic mutations, height, body mass index (BMI), PTH resistance, presence or absence of ectopic ossifications and brachydactyly). All patients underwent auditory investigations, including tonal and vocal audiometry. The primary outcome was the pure tone average (PTA). The PTA was compared with the norm according to the International Organization for Standardization. Hearing loss was defined as a PTA ≥ 20 db.

Results

The median age of the patients was 15.6 years [9.5, 28.5]. Thirty-six patients were diagnosed with iPPSD2, and eight were diagnosed with iPPSD3. Twenty-six of them (59%) were female. Hearing impairment was confirmed in 17 patients (39%). The mean PTA and the mean SRT of the deaf ears were 40 ± 26 db and 31 ± 14 db. The mean difference in the PTA between the patients and the normal controls was 11.4 db (p = 0.00002). Short stature and the presence of ectopic ossifications were two significant predictive factors of hearing loss (p = 0.009 and p = 0.03, respectively). Sex, BMI, PTH resistance, mutation category and brachydactyly were not associated with an increased risk of hearing loss (p = 0.19, p = 0.41, p = 0.13, p = 0.50, p = 0.19, respectively).

Conclusion

Our study confirmed the frequency of hearing loss in patients with PHP/iPPSD disease (prevalence = 39%). A diagnosis of PHP/iPPSD should trigger auditory investigations and follow-up, especially when short stature and/or ectopic ossifications are present.
Development, evaluation and comparison of machine learning algorithms for predicting in-hospital patient charges for congestive heart failure exacerbations, chronic obstructive pulmonary disease exacerbations and diabetic ketoacidosis
Authors: Arnold Monique , Liou Lathan , Boland Mary Regina
Published: September 2024

Background

Hospitalizations for exacerbations of congestive heart failure (CHF), chronic obstructive pulmonary disease (COPD) and diabetic ketoacidosis (DKA) are costly in the United States. The purpose of this study was to predict in-hospital charges for each condition using machine learning (ML) models.

Results

We conducted a retrospective cohort study on national discharge records of hospitalized adult patients from January 1st, 2016, to December 31st, 2019. We constructed six ML models (linear regression, ridge regression, support vector machine, random forest, gradient boosting and extreme gradient boosting) to predict total in-hospital cost for admission for each condition. Our models had good predictive performance, with testing R-squared values of 0.701-0.750 (mean of 0.713) for CHF; 0.694-0.724 (mean 0.709) for COPD; and 0.615-0.729 (mean 0.694) for DKA. We identified important key features driving costs, including patient age, length of stay, number of procedures, and elective/nonelective admission.

Conclusions

ML methods may be used to accurately predict costs and identify drivers of high cost for COPD exacerbations, CHF exacerbations and DKA. Overall, our findings may inform future studies that seek to decrease the underlying high patient costs for these conditions.