bluuebunny/crossref_metadata_2025_split huggingface dataset:
cdh23 affects congenital hearing loss through regulating purine metabolism
Authors: Yang Shu , Xie Bing-Lin , Dong Xiao-ping , Wang Ling-xiang , Zhu Gang-hua , Wang Tian , Wu Wei-jing , Lai Ruo-sha , Tao Rong , Guan Min-xin , Chen Fang-yi , Tan Dong-hui , Deng Zhong , Xie Hua-ping , Zeng Yong , Xiao Zi-an , Xie Ding-hua 
Published: July 2023

IntroductionThe pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness is still largely unknown.MethodsIn this study, a congenital deafness family, whole exome sequencing revealed a new mutation in the pathogenic gene CDH23, subsequently; the mutation has been validated using Sanger sequencing method. Then CRISPR/Cas9 technology was employed to knockout zebrafish cdh23 gene. Startle response experiment was used to compare with wide-type, the response to sound stimulation between wide-type and cdh23−/−. To further illustrate the molecular mechanisms underlying congenital deafness, comparative transcriptomic profiling and multiple bioinformatics analyses were performed.ResultsThe YO-PRO-1 assay result showed that in cdh23 deficient embryos, the YO-PRO-1 signal in inner ear and lateral line neuromast hair cells were completely lost. Startle response experiment showed that compared with wide-type, the response to sound stimulation decreased significantly in cdh23 mutant larvae. Comparative transcriptomic showed that the candidate genes such as atp1b2b and myof could affect hearing by regulating ATP production and purine metabolism in a synergetic way with cdh23. RT-qPCR results further confirmed the transcriptomics results. Further compensatory experiment showed that ATP treated cdh23−/− embryos can partially recover the mutant phenotype.ConclusionIn conclusion, our study may shed light on deciphering the principal mechanism and provide a potential therapeutic method for congenital hearing loss under the condition of CDH23 mutation.
A systematic evaluation of five different image-derived input functions for the clinical implementation of 18F-NaF bone PET/CT in patients with chronic kidney disease–mineral and bone disorder
Authors: Theil Jørn , Vrist Marie Houmaa , Bech Jesper Nørgaard , Fynbo Claire Anne 
Published: July 2023

IntroductionThe aim of this study was to investigate the impact of the use of varying input parameters on resulting bone plasma clearance (Ki) and other kinetic modelling parameters in a group of patients with chronic kidney disease–mineral and bone disorder (CKD-MBD).MethodsRaw PET/CT data and blood data were systematically analyzed using five different VOIs for the input functions in the left ventricle and in the thoracic aorta. Standardized VOIs were placed in four thoracic vertebrae and the results pooled and averaged. The basic image-derived input functions (IDIFs) were corrected for partial volume effect and spill-over and modified by substitution of the terminal image exponential with the corresponding plasma-exponentials derived from blood samples. Ki was then calculated using both a non-linear regression (NLR) analysis and a graphical Patlak analysis and compared.ResultsOur original results were reproducible with an inter-observer difference of approximately 6%. The correction factors varied with the VOI volumes from 0.73 ± 0.17 for the largest LV-VOI (48.7 ± 25.3 cm3) to 0.99 ± 0.10 for the AO-VOI (3.4 ± 1.2 cm3). The mean NLR-Ki results varied between 0.0378 ± 0.0112 and 0.0432 ± 0.0095 ml/min ml−1 with a fixed vB and 0.0408 ± 0.0111 and 0.045 ± 0.0102 ml/min ml−1 with a free-fitted vB. The corresponding Patl-Ki-results varied between 0.0302 ± 0.0071 and 0.0325 ± 0.0070 ml/min ml−1, having lesser differences and variances. The input functions with least variance and mean differences compared with NLR results were derived from the left ventricle with a VOI volume of 19.2 ± 11.3 cm3 corrected for PVE and Bg with a mean Ki-difference: 0.0097 ± 0.0370 ml/min ml−1 and 95% confidence limits (−0.023 to 0.004).ConclusionsOur results indicated that a VOI with a volume of approximately 20 cm3 with a correction factor of 0.83 ± 0.13 results in Patlak results with the least variance and difference compared with the NLR results. The use of free-fitted vB in the NLR analysis showed the most robust results in all input series. The Patlak results were in comparison generally lower than the NLR results (−17.3% to −23.4%) but very robust across the various input series and with results comparable to previously published data and are therefore recommended for future analysis.
I2N: image to nutrients, a sensor guided semi-automated tool for annotation of images for nutrition analysis of eating episodes
Authors: Ghosh Tonmoy , McCrory Megan A. , Marden Tyson , Higgins Janine , Anderson Alex Kojo , Domfe Christabel Ampong , Jia Wenyan , Lo Benny , Frost Gary , Steiner-Asiedu Matilda , Baranowski Tom , Sun Mingui , Sazonov Edward 
Published: July 2023

IntroductionDietary assessment is important for understanding nutritional status. Traditional methods of monitoring food intake through self-report such as diet diaries, 24-hour dietary recall, and food frequency questionnaires may be subject to errors and can be time-consuming for the user.MethodsThis paper presents a semi-automatic dietary assessment tool we developed - a desktop application called Image to Nutrients (I2N) - to process sensor-detected eating events and images captured during these eating events by a wearable sensor. I2N has the capacity to offer multiple food and nutrient databases (e.g., USDA-SR, FNDDS, USDA Global Branded Food Products Database) for annotating eating episodes and food items. I2N estimates energy intake, nutritional content, and the amount consumed. The components of I2N are three-fold: 1) sensor-guided image review, 2) annotation of food images for nutritional analysis, and 3) access to multiple food databases. Two studies were used to evaluate the feasibility and usefulness of I2N: 1) a US-based study with 30 participants and a total of 60 days of data and 2) a Ghana-based study with 41 participants and a total of 41 days of data).ResultsIn both studies, a total of 314 eating episodes were annotated using at least three food databases. Using I2N’s sensor-guided image review, the number of images that needed to be reviewed was reduced by 93% and 85% for the two studies, respectively, compared to reviewing all the images.DiscussionI2N is a unique tool that allows for simultaneous viewing of food images, sensor-guided image review, and access to multiple databases in one tool, making nutritional analysis of food images efficient. The tool is flexible, allowing for nutritional analysis of images if sensor signals aren’t available.
Identification of prognostic nutritional index as a reliable prognostic indicator for advanced lung cancer patients receiving immune checkpoint inhibitors
Authors: Yan Xuebing , Wang Jiaxin , Mao Jingxian , Wang Ying , Wang Xiangjun , Yang Mengxue , Qiao Hong 
Published: July 2023

BackgroundPrognostic nutritional index (PNI) has been identified as a reliable prognostic factor for cancer adjuvant therapy. However, its prognostic value in lung cancer patients receiving immune checkpoint inhibitors (ICIs) remains inconclusive.MethodA systematic literature review and meta-analysis was performed based on online databases before March 1th 2023. The correlation of PNI with overall survival (OS) or progression-free survival (PFS) was determined using the hazard ratios (HRs) coupled with 95% confidence intervals (CIs). Then, a retrospective cohort enrolling 123 ICI-treated lung cancer patients from two hospitals was utilized for validation and further investigation.ResultsA total of 14 studies enrolling 1,260 lung cancer patients were included in the meta-analysis. The high PNI level was significantly correlated with better OS (HR = 2.56, 95% CI = 1.86–3.54) and PFS (HR = 1.91, 95% CI = 1.53–2.40) of the lung cancer patients. The subgroup analysis confirmed the results except for the PFS in patients receiving anti-PD-1 therapy (HR = 1.51, 95% CI = 0.86–2.65). In the retrospective study, the high PNI level was identified as a favorable factor for OS and PFS not only in the whole cohort but also in the subgroups stratified by non-small cell lung cancer and small cell lung cancer. The high PNI was also correlated with better anti-cancer therapy response and performed better than body mass index and serum albumin level in OS prediction. Finally, we established a novel prognostic nomogram based on PNI and other clinical parameters. The nomogram was found to perform well in predicting the 1-year OS of ICI-treated lung cancer patients.ConclusionBoth the meta-analysis and retrospective work demonstrate the PNI is a reliable prognostic factor for advanced lung cancer patients receiving ICI-based therapies. Our study further highlights the crucial role of nutrition assessment and intervention in cancer immunotherapy.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, identifier: CRD42023424146.
Case Report: Analysis of four cases of metastatic bladder masses after radical prostatectomy
Authors: Wang Hao , Xie Dawei , Lu Jun , Chu Yifan , Wang Siqi , Qiao Peng , Wu Liyang , Wang Jianwen 
Published: July 2023

ObjectiveThe aim of this study is to investigate the clinical characteristics and diagnostic and therapeutic methods of bladder metastasis after radical prostatectomy and to improve its diagnosis and treatment.MethodsThe clinical data of four patients with bladder metastasis after radical prostatectomy were retrospectively analyzed from January 2011 to December 2021. Three cases suffered from intermittent gross hematuria, and only one case was found to have an elevated prostate-specific antigen (PSA) value. Transurethral resection of bladder tumor was performed in four cases, in which one case also underwent resection of urethral mass. Three cases received endocrine therapy, one of which added intravesical instillation and radiation therapy. Another case received chemotherapy based on comprehensive treatment.ResultsAccording to the pathological and immunohistochemical results, three cases were acinar adenocarcinoma of the prostate with Gleason score of 9, and all cases were PSA positive and negative for cytokeratin 7 (CK7) and GATA binding protein 3 (GATA-3). One case was small cell neuroendocrine carcinoma of the prostate and was positive for chromogranin A (CGA), synaptophysin (SYN), and cluster of differentiation 56 (CD56). During the follow-up period of 4 to 13 months, one case was lost to follow-up and three cases were alive.ConclusionBladder metastasis after radical prostatectomy is rare, and pathology combined with immunohistochemistry is the gold standard for its diagnosis. Pathological type determines its treatment. Systemic treatment is essential, and local treatment is the most palliative means. Early diagnosis and treatment is significant for better prognosis.
Single-cell analysis reveals cellular reprogramming in advanced colon cancer following FOLFOX-bevacizumab treatment
Authors: Yang Meiling , Yang Ciqiu , Ma Dong , Li Zijun , Zhao Wei , Yang Dongyang 
Published: July 2023

IntroductionThe combination of FOLFOX and bevacizumab (FOLFOX-Bev) is a promising treatment for advanced colorectal cancer (CRC). However, the response of the tumor microenvironment to FOLFOX-Bev is still largely unexplored.MethodsWe conducted single-cell transcriptomic analysis of CRC samples derived from a patient before and after treatment to gain insights into the cellular changes associated with FOLFOX-Bev treatment.ResultsWe found that cancer cells with high proliferative, metastatic, and pro-angiogenic properties respond better to FOLFOX-Bev treatment. Moreover, FOLFOX-Bev enhances CD8+ T cell cytotoxicity, thereby boosting the anti-tumor immune response. Conversely, FOLFOX-Bev impairs the functionality of tumor-associated macrophages, plasma cells, and cancer-associated fibroblasts, leading to a decrease in VEGFB-mediated angiogenesis. Furthermore, FOLFOX-Bev treatment reset intercellular communication, which could potentially affect the function of non-cancer cells.DiscussionOur findings provide valuable insights into the molecular mechanisms underlying the response of advanced CRC to FOLFOX-Bev treatment and highlight potential targets for improving the efficacy of this treatment strategy.
A qualitative exploration of parental perspectives on quality of care for children with serious illnesses
Authors: Ang Felicia Jia Ler , Chow Cristelle Chu-Tian , Chong Poh Heng , Tan Teresa Shu Zhen , Amin Zubair , Buang Siti Nur Hanim , Finkelstein Eric A. 
Published: July 2023

IntroductionBeing responsive to end-users is essential to good care. Limited in-depth exploration of parental perspectives on care received by children over the course of serious illness has hindered the development of process measures to evaluate quality of care. Our objective was to identify the key process indicators prioritized by parents in the care of seriously ill young children and develop a framework to guide assessment of quality of care.MethodsThis qualitative study followed Charmaz's Constructivist Grounded Theory. In-depth semi-structured interviews were conducted with parents of young children with serious illness in Singapore. Participants were sampled across various healthcare settings, children's ages, and illness categories. Theoretical sampling and constant comparative analysis were used to generate initial, focused, and theoretical codes, which informed construction of a conceptual framework.Results31 parents participated from July 2021 to February 2022. Initial and focused coding generated 64 quality of care indicators describing key care practices, interactions, and procedures. Indicators were categorized under four themes: (1) efficient healthcare structures and standards, (2) professional qualities of healthcare workers, 3. supporting parent-caregivers, and 4. collaborative and holistic care. Theoretical coding led to the development of the “PaRental perspectives on qualIty of care for Children with sErious iLlnESSes (PRICELESS)” framework which summarizes elements contributing to the parental perception of quality of care.DiscussionThe identified process indicators will facilitate the development of standardised parent-reported measures for assessing service quality and benchmarking among providers. The framework provides overall guidance for conceiving quality improvement initiatives.
Prognostic factors for employment outcomes in patients with a history of childhood-onset drug-resistant epilepsy
Authors: Arai Yuto , Okanishi Tohru , Noma Hisashi , Kanai Sotaro , Kawaguchi Tatsuya , Sunada Hiroshi , Fujimoto Ayataka , Maegaki Yoshihiro 
Published: July 2023

ObjectiveThe employment outcomes of childhood-onset drug-resistant epilepsy (DRE) has not been studied enough. The aim of this retrospective cohort study is to investigate the employment outcomes of childhood-onset DRE in June 2022 and identify the risk factors associated with non-employment.Materials and methodsThe sample consisted of 65 participants ≥18 years of age with a history of childhood-onset DRE. Fifty participants (77%) were salaried employees and 15 participants (23%) were non-employed. Clinical and psychosocial information were evaluated for calculating the relative risk (RR) of non-employment.ResultsRegarding medical factors, lower IQ [RR, 0.645; 95% confidence interval (CI), 0.443–0.938; p = 0.022] was positively associated with employment. In contrast, age at follow-up (RR, 1.046; 95% CI, 1.009–1.085; p = 0.014); number of ASMs at follow-up (RR, 1.517; 95% CI, 1.081–2.129; p = 0.016); use of medications such as phenobarbital (RR, 3.111; 95% CI, 1.383–6.997; p = 0.006), levetiracetam (RR, 2.471; 95% CI, 1.056–5.782; p = 0.037), and topiramate (RR, 3.576; 95% CI, 1.644–7.780; p = 0.001) were negatively associated with employment. Regarding psychosocial factor, initial workplace at employment support facilities (RR, 0.241; 95% CI, 0.113–0.513; p &lt; 0.001) was positively associated with employment. In contrast, complication of psychiatric disorder symptoms (RR, 6.833; 95% CI, 2.141–21.810; p = 0.001) was negatively associated with employment. Regarding educational factor, graduating schools of special needs education (RR, 0.148; 95% CI, 0.061–0.360; p &lt; 0.001) was positively associated with employment.ConclusionsSpecific medical, psychosocial, and educational factors may influence the employment outcomes of childhood-onset DRE. Paying attention to ASMs’ side effects, adequately preventing the complications of psychiatric disorder symptoms, and providing an environment suitable for each patient condition would promote a fine working status for people with childhood-onset DRE.
Characterization of an airborne organic contaminant sensor based on microfibers with sol–gel film
Authors: Miao Xinxiang , Zhou Guorui , Chen Jiaxuan , Zhu Qihua , Li Yuhai , Jiang Xiaodong , Lv Haibing , Yao Caizhen , Jiang Yilan , Niu Longfei , Xiang Siheng 
Published: July 2023

Introduction: Based on microfibers with sol–gel film, this study focuses on developing an organic contaminant sensing device to monitor airborne organic contamination in high-power laser facilities.Methods: The device heightened the sensitivity to the external environment with the nano-structure of sol–gel on the microfiber surface. The relationship between the additional laser transmission power loss caused by contaminants and the filling rate of the porosity of the film was discussed. In addition, we obtained the relationship between the additional loss and the refractive index of the microstructure.Results: The experimental results indicated that employing microfibers with microstructure coating could significantly improve sensing sensitivity to airborne organic contaminants. The precision of sensing surface contaminants can reach ng/cm2. When the concentration of organic contaminants is lower than 7.5%, the adsorption process of the microstructure coating is dominated by single-molecule adsorption, and the additional loss increases exponentially with increasing concentration, while the sensing limit is 70 ppm. When the concentration of organic contaminants exceeds 7.5%, the adsorption process of the surface microstructure coating is dominated by multimolecular adsorption. Therefore, the additional loss is exponentially related to the concentration of airborne organic contaminants, while the sensing limit is 10 ppm.Discussion: The study explored the adsorption mechanism of the sol–gel film to airborne organic contaminants at different concentrations. The Langmuir monolayer adsorption isotherm model and the Freundlich multi-molecular layer adsorption isotherm model was adopted to analyze and verify the experimental results, which suggested that the experimental results agree well with the simulation results. This work can be considered for in situ monitoring of airborne concentration contaminants and the transmittance of optics with the sol–gel film, and it also provides a new research method for in situ monitoring of airborne organic contaminants in the vacuum environment.
How congruent are parent reports on 3–4-year-old children’s language skills with other sources of data?
Authors: Tulviste Tiia , Schults Astra 
Published: July 2023

BackgroundParental report measures such as the MacArthur-Bates Communicative Development Inventories (CDIs) are frequently used to study communicative skills of children under 3 years of age. Less is known about the usability of such reports for assessing communication skills in older children due to their advanced language skills, and a higher variety of communicative partners and communication contexts.AimsTo assess the concurrent and predictive validity of the Estonian (E) CDI-III at ages 3;0 and 4;0 years. The first research goal was to examine its concurrent variability—associations with teacher reports and directly measured language skills. The second goal of the study was to investigate the predictive validity of parent reports—the degree to which parent-and teacher-reported language scores for children at age 3;0 are useful for predicting examiner-administered language comprehension and production scores 1 year later.MethodsEstonian monolingual children were investigated longitudinally at ages 3;0 (n = 104; M age = 35.77 months, SD = 0.84; 42% males) and 4;0 (n = 87; M age = 48.18 months, SD = 1.16; 42% males) years. Children were assessed with the parent-reported ECDI-III, with teacher-reported assessments on children’s talkativeness, vocabulary size and grammatical skills, and the examiner-administered New Reynell Developmental Language Scales IV (NRDLS).ResultsResults indicated significant positive relationships between the ECDI-III total scores, teacher reports, and directly measured language comprehension and production scores, demonstrating concurrent validity of parental reports of children language skills at both ages. When controlling for mothers’ education, children’s gender, and reported language difficulties, parental and teacher reports were predictive of language production scores, whereas only parental reports predicted comprehension scores 1 year later. None of the controls was predictive of later language comprehension and production scores.ConclusionIn sum, good concurrent and predictive validity of the ECDI-III shows that the instrument is a valid tool for assessing communicative skills in Estonian children. Results suggest that parent reports can offer useable information also about communicative skills of children older than three years.
The REtirement in ACTion exercise programme and its effects on elements of long term functionality in older adults
Authors: Ladlow Peter , Western Max J. , Greaves Colin J. , Thompson Janice L. , Withall Janet , Koning Jolanthe de , Bollen Jessica C. , Moorlock Sarah J. , Guralnik Jack M. , Fox Kenneth R. , Stathi Afroditi 
Published: July 2023

BackgroundThe prevention of mobility-related disability amongst adults is a global healthcare priority. Cost-effective community-based strategies to improve physical function and independence in older adults with mobility limitations are needed. This study investigated the effectiveness of the REtirement in ACTion (REACT) exercise intervention on individual markers of physical function at 6-and 12-months.MethodsThe REACT multicentre randomised controlled trial assigned 777 older adults (female, 514; male 263) (mean age 77·6 [SD 6·8] years) with reduced lower limb physical functioning (Short Physical Performance Battery [SPPB] score 4–9) to receive brief healthy ageing advice or a 12-month, group-based, multimodal exercise programme delivered in local communities. Estimated differences in the three individual component scores of the SPPB (strength, balance, gait speed) and physical functional outcomes recorded at 6- and 12-months were assessed.ResultsThe intervention group demonstrated significant improvements in strength (OR = 1.88, 95% CI = 1.36–2.59, p &lt; 0.001) and balance (OR = 1.96, 95% CI = 1.39–2.67, p &lt; 0.001) at 12-months, but not in gait speed (OR = 1.32, 95% CI = 0.91–1.90, p = 0.139). In comparison to the control group, at six-and 12-months, the intervention group reported statistically significant improvements in Mobility Assessment Tool-Short Form (MAT-SF), physical component score from SF-36 questionnaire, and strength and endurance items of subjectively reported physical activity (PASE 10-item). Greater than 75% adherence (attending ≥48 of the 64 exercise sessions delivered in 12-months) was associated with superior functional outcomes.ConclusionThe REACT exercise programme provides local, regional and national service providers with an effective solution to increase muscle strength and balance in older adults at risk of mobility disability.