bluuebunny/crossref_metadata_2025_split huggingface dataset:
Thyroid dysfunction and sarcopenia: a two-sample Mendelian randomization study
Authors: Wei Jiaxin , Hou Shuanglong , Hei Peng , Wang Gang 
Published: September 2024

ObjectiveObservational studies have shown positive associations between thyroid dysfunction and risk of sarcopenia. However, the causality of this association remains unknown. This study aimed to evaluate the potential causal relationship between thyroid dysfunction and sarcopenia using Mendelian randomization (MR).MethodsThis study collected pooled data from genome-wide association studies focusing on thyroid dysfunction and three sarcopenia-related features: low hand grip strength, appendicular lean mass (ALM), and walking pace, all in individuals of European ancestry. The primary analytical method used was inverse-variance weighted, with weighted median and MR-Egger serving as complementary methods to assess causal effects. Heterogeneity and pleiotropy tests were also performed, and the stability of the results was evaluated using the Leave-one-out.ResultsThe MR analysis indicated that hyperthyroidism could lead to a significant decrease in ALM in the extremities (OR = 1.03; 95% CI = 1.02 to 1.05; P &lt; 0.001). The analysis also found that hypothyroidism could cause a notable reduction in grip strength (OR = 2.03; 95% CI = 1.37 to 3.01; P &lt; 0.001) and walking pace (OR = 0.83; 95% CI = 0.77 to 0.90; P &lt; 0.001). There was a significant association between subclinical hyperthyroidism and a reduced walking pace (OR = 1.00; 95% CI = 0.99 to 1.00; P = 0.041).ConclusionThis study provides evidence that hyperthyroidism, hypothyroidism, and subclinical hyperthyroidism can all increase the risk of sarcopenia.
Parental genetic knowledge and attitudes toward childhood with genetic disorders
Authors: Alotaibi Maha 
Published: September 2024

Introduction: Genetics’ integration with society sparks a multifaceted exploration in medicine, ethics, and psychology. This survey probes parental perspectives on childhood genetic disorders, aiming to gauge their understanding, attitudes, and implications. It seeks to inform healthcare, counseling, and policy endeavors by uncovering gaps in knowledge and attitudes. Understanding the psychological impact and familial dynamics of genetic information underscores the need for tailored support services amidst rapid advancements in genetic technologies and their ethical complexities.Methodology: It is a cross-sectional survey that assesses parental genetic knowledge and attitudes towards childhood genetic disorders. Data is collected by both paper and electronic formats. Data is cleaned in Excel and analyzed in IBM SPSS 29.Results: Our study included 138 participants, predominantly female (71.7%), with mean age 36.01 years (SD = 8.7). Most were Saudi (81.2%), with university education (65.9%). Notably, 73.2% reported consanguineous marriages. Regarding knowledge, 73.2% demonstrated good understanding of genetic disorders of child. Moreover, 47.8% and 34.1% claimed 40%–60% and 34.1% knowledge levels, respectively. Doctors were the primary information source (79.7%). Participants expressed moderate impact of genetic disorders on their child’s life (65.9%) and family dynamics (45.7%). Satisfaction with medical care was high (41.3% rated it as excellent). Challenges accessing healthcare were reported by 52.9%. Positive experiences with genetic disorders were reported by 62.3%, with male participants more likely to report positive experiences (B = 0.888, p = 0.041). Improvement areas included treatment availability (39.1%) and advanced medical tests (20.3%). Notably, informing relatives about the genetic disease significantly predicted positive attitudes (B = 1.006, p = 0.008). Overall, obtaining information from doctors significantly enhanced knowledge (B = 2.296, p = 0.024).Conclusion: Our study shows significant associations between parental knowledge, attitudes towards genetic disorders, and healthcare experiences. It underscores the importance of informed decision-making and targeted interventions to address challenges and improve outcomes in managing childhood genetic disorders.
Recognition of feeding sounds of large-mouth black bass based on low-dimensional acoustic features
Authors: Liu Shijing , Liu Shengnan , Qi Renyu , Zheng Haojun , Zhang Jiapeng , Qian Cheng , Liu Huang 
Published: September 2024

IntroductionThe eating sounds of largemouth black bass (Micropterus salmoides) are primarily categorized into swallowing and chewing sounds, both intensities of which are closely correlated with fish density and feeding desire. Therefore, accurate recognition of these two sounds is of significant importance for studying fish feeding behavior.MethodsIn this study, we propose a method based on low-dimensional acoustic features for the recognition of swallowing and chewing sounds in fish. Initially, utilizing synchronous audio-visual means, we collect feeding sound signals and image signals of largemouth black bass. By analyzing the time-frequency domain features of the sound signals, we identify 15 key acoustic features across four categories including short-time average energy, average Mel-frequency cepstral coefficients, power spectral peak, and center frequency. Subsequently, employing nine dimensionality reduction algorithms, we select the Top-6 features from the 15-dimensional acoustic features and compare their precision in recognizing swallowing and chewing sounds using four machine learning models.ResultsExperimental results indicate that supervised feature pre-screening positively enhances the accuracy of largemouth black bass feeding feature recognition. Extracted acoustic features demonstrate global correlation and linear characteristics. When considering feature dimensionality and classification performance, the combination of feature dimensionality reduction and recognition model based on the random forest model exhibits the best performance, achieving an identification accuracy of 98.63%.DiscussionThe proposed method offers higher assessment accuracy of swallowing and chewing sounds with lower computational complexity, thus providing effective technical support for the research on precise feeding technology in fish farming.
Short-term effects of ophthalmic topical 0.01% atropine on the ocular surface, pupil size, and subsequent subjective quality of vision in young myopic Chinese adults
Authors: Li Mingze , Chen Yimeng , Chen Jiayan , Qin Guanghao , Li Liangzhe , He Wei , Yu Sile , He Xingru , Pazo Emmanuel Eric , Xu Ling 
Published: September 2024

BackgroundDaily use of low concentrations of atropine is recommended for children undergoing myopia control therapy. While the benefits of controlling myopia progression have been confirmed, the potential unwanted side effects on the ocular surface, pupil size, and quality of vision following the administration of 0.01% atropine have not been investigated.ObjectiveThis single-arm, self-control study aimed to investigate the short-term effects of 0.01% atropine topical eye drop (He Eye Hospital Co., Ltd., Shenyang, China) on pupil size and subjective quality of vision in participants with myopia. Each 3 mL vial of eye drops contains atropine (0.01%), sodium chloride (0.9%), and benzalkonium chloride (0.005%) in an aqueous solution.MethodsThirty-three adults (66 eyes) were recruited for the study. The mean age of the participants recruited for this study was 24.91 ± 3.36 years. This study is registered with Clinical Trials.gov (NCT06071260). Assessments were performed at baseline and 10 h, 14 h, and 18 h following the administration of 0.01% topical atropine drop (TAD). Mesopic pupil diameter (MPD), photopic pupil diameter (PPD), higher order aberration (HOA), non-invasive tear breakup time (NITBUT), tear meniscus height (TMH), tear film lipid layer (TFLL), and Redness score (RS). Subjective assessments included the quality of vision (QoV) and the ocular surface disease index (OSDI) questionnaires.ResultsFollowing the use of 0.01% atropine, PPD significantly increased at all the time points (p &lt; 0.001); MPD increased significantly at 10 h and 14 h (p &lt; 0.001 and p &lt; 0.05, respectively). A decrease in TMH and an increase in the OSDI questionnaire scores were observed up to 10 and 14 h, respectively, after using atropine (p &lt; 0.001). Glare (p = 0.004 at 10 h and p = 0.003 at 14 h), blurred vision (p &lt; 0.0001 at 10 h and p = 0.035 at 14 h), and focusing difficulties (p &lt; 0.0001 at 10 h and p &lt; 0.0001 at 14 h) were significantly higher at both 10 h and 14 h after using atropine. No significant changes were observed in the HOA, NITBUT, and RS scores (all p &gt; 0.05) at all time points.ConclusionDecreased TMH, dry eye symptoms, and visual symptoms will likely persist overnight but often diminish within 18 h after using 0.01% atropine eye drops.
Diagnostic accuracy of deep learning in detection and prognostication of renal cell carcinoma: a systematic review and meta-analysis
Authors: Chandramohan Deepak , Garapati Hari Naga , Nangia Udit , Simhadri Prathap K. , Lapsiwala Boney , Jena Nihar K. , Singh Prabhat 
Published: September 2024

IntroductionThe prevalence of Renal cell carcinoma (RCC) is increasing among adults. Histopathologic samples obtained after surgical resection or from biopsies of a renal mass require subtype classification for diagnosis, prognosis, and to determine surveillance. Deep learning in artificial intelligence (AI) and pathomics are rapidly advancing, leading to numerous applications such as histopathological diagnosis. In our meta-analysis, we assessed the pooled diagnostic performances of deep neural network (DNN) frameworks in detecting RCC subtypes and to predicting survival.MethodsA systematic search was done in PubMed, Google Scholar, Embase, and Scopus from inception to November 2023. The random effects model was used to calculate the pooled percentages, mean, and 95% confidence interval. Accuracy was defined as the number of cases identified by AI out of the total number of cases, i.e. (True Positive + True Negative)/(True Positive + True Negative + False Positive + False Negative). The heterogeneity between study-specific estimates was assessed by the I2 statistic. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to conduct and report the analysis.ResultsThe search retrieved 347 studies; 13 retrospective studies evaluating 5340 patients were included in the final analysis. The pooled performance of the DNN was as follows: accuracy 92.3% (95% CI: 85.8–95.9; I2 = 98.3%), sensitivity 97.5% (95% CI: 83.2–99.7; I2 = 92%), specificity 89.2% (95% CI: 29.9–99.4; I2 = 99.6%) and area under the curve 0.91 (95% CI: 0.85–0.97.3; I2 = 99.6%). Specifically, their accuracy in RCC subtype detection was 93.5% (95% CI: 88.7–96.3; I2 = 92%), and the accuracy in survival analysis prediction was 81% (95% CI: 67.8–89.6; I2 = 94.4%).DiscussionThe DNN showed excellent pooled diagnostic accuracy rates to classify RCC into subtypes and grade them for prognostic purposes. Further studies are required to establish generalizability and validate these findings on a larger scale.
Chronic exposure to MK-801 leads to olfactory deficits and reduced neurogenesis in the olfactory bulbs of adult male mice
Authors: Sinegubov Artem , Dyachuk Vyacheslav 
Published: September 2024

BackgroundMK-801 is a drug widely used in preclinical studies to model schizophrenia in animals. Its distinctive feature is the ability to mimic pathological changes in social interactions. Unlike humans, rodents rely heavily on their sense of smell for social interaction. Since, as previously demonstrated, it also impairs neurogenesis, we set out to determine whether olfactory impairment is associated with chronic administration of the drug.MethodsThe mice were divided into two groups, of which one was administered the drug for 3 weeks, and the other only once. Olfaction and social transfer of food preferences were tested after the drug administration period. At the end of the experiment, an immunofluorescence study was performed to determine differences in neurogenesis in the olfactory bulbs.ResultsAn olfactory deficit was observed in animals that received the drug for 3 weeks. These changes were also accompanied by an abnormal lack of food preference in the social transmission test. As a result of a morphological study, a pronounced decrease in the number of new neurons was found in the olfactory bulbs of the animals that had received the drug.ConclusionOur results indicate that at least some of the impairments in social behavior of the animals exposed to NMDA receptor antagonists are likely caused by changes in the sense of smell. These changes are associated with disruptions of neurogenesis.
Prevalence and determinants of inadequate dietary diversity among pregnant women in four Sub-Saharan Africa countries: a multilevel analysis of recent demographic and health surveys from 2021 to 2022
Authors: Zegeye Alebachew Ferede , Mekonen Enyew Getaneh , Tamir Tadesse Tarik , Workneh Belayneh Shetie 
Published: September 2024

BackgroundDiversity in the mother’s diet can have major effects on the developing fetus throughout pregnancy. Approximately 1 million neonates die on their first day of life as a result of inadequate nutrition, which also complicates the mother’s pregnancy and has a negative impact on the delivery outcome. Dietary diversity during pregnancy is poorly recognized in developing countries, despite the fact that it is detrimental. As a result, this study aimed to assess the prevalence and associated factors of inadequate dietary diversity in Burkina Faso, Ghana, Kenya, and Tanzania among pregnant women.MethodsSecondary data analysis was conducted using data from the most recent Demographic and Health Surveys, which included four countries in Sub-Saharan Africa between 2021 and 2022. A total of 80,083 pregnant women were included in this study. The women’s dietary diversity was computed from 10 food categories. Based on the minimum diversity score, women were categorized as having inadequate dietary diversity if their diversity score was less than five food items and as having adequate dietary diversity if they took five or more food groups. A multilevel mixed-effects logistic regression model was used to identify the factors associated with inadequate dietary diversity. At p-values &lt;0.05, significant factors correlated with inadequate diversity were identified. The result was interpreted using 95%CI and adjusted odds ratio. The best-fit model was determined to be the one with the lowest deviance and highest loglikelihood ratio.ResultsThe prevalence of inadequate dietary diversity among pregnant women in Burkina Faso, Ghana, Kenya, and Tanzania was 94.46%. Factors such as no formal education (AOR = 3.39, 95% CI: 2.54, 4.54), distance to health facilities (AOR = 1.36, 95% CI: 1.16, 1.60), poor wealth quantiles (AOR = 2.97, 95% CI: 2.41, 3.65), no media exposure (AOR = 1.84, 95% CI: 1.45, 2.35), low community ANC utilization (AOR = 1.21, 95% CI: 1.16, 1.60), and reside Burkina Faso (AOR = 1.47, 95% CI: 1.09, 1.99) were among the factors associated with inadequate dietary diversity.ConclusionAccording to this study finding, pregnant women had a high percentage of inadequate dietary diversity. Factors at the individual and community levels contributed to the lack of diversity in nutrition. Thus, when developing policies and strategies, the health ministries of Burkina Faso, Kenya, Ghana, and Tanzania should to consider the women who underutilize antenatal care services, live in low wealth quantiles and who did not get formal education.
Exploring the J-shaped relationship between HALP score and mortality in cancer patients: A NHANES 1999-2018 cohort study
Authors: Dong Jiaxing , Jiang Wanju , Zhang Wenjia , Guo Taohua , Yang Yucheng , Jiang Xiaohua , Zheng Liang , Du Tao 
Published: September 2024

BackgroundThe recent hemoglobin, albumin, lymphocyte, and platelet (HALP) scores, combined with various clinically available indicators, can comprehensively evaluate the nutritional and immune status of patients. Some observational studies have found a positive correlation between HALP score and cancer prognosis, but the clinical application of HALP score has raised concerns due to the presence of confounding factors. The aim of this study is to explore the relationship between HALP score and long-term mortality in cancer patients.MethodsWe extracted 3832 cancer patients with complete baseline information from the National Health and Nutrition Examination Survey (NHANES). The COX regressions and restricted cubic spline (RCS) curves were used to explore the nonlinear relationship between HALP score and long-term mortality risk in cancer patients. Kaplan-Meier (K-M) curve was conducted to evaluate the impact of HALP score on long-term mortality risk. Additionally, subgroup analysis was conducted to verify the stability of the above results.ResultsWe divided participants into 4 groups based on HALP score, and the COX regression results showed that risk of long-term mortality tended to be lower in cancer patients with high HALP scores. Meanwhile, the RCS curves showed that there was a nonlinear association. The results remained stable in subgroup analyses and in breast cancer, colorectal cancer, cervix and uterus cancer, melanoma, prostate cancer and skin cancer.ConclusionsHALP score were independently associated with the risk of long-term mortality in cancer patients, and there is also a non-linear association. This will provide new perspectives on clinical and nutritional interventions for cancer patients.
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment
Authors: Gusakova Mariia , Dzhumaniiazova Irina , Zelenova Elena , Kashtanova Daria , Ivanov Mikhail , Mamchur Aleksandra , Rumyantseva Antonina , Terekhov Mikhail , Mitrofanov Sergey , Golubnikova Liliya , Akinshina Aleksandra , Grammatikati Konstantin , Kalashnikova Irina , Yudin Vladimir , Makarov Valentin , Keskinov Anton , Yudin Sergey 
Published: September 2024

BackgroundPopulation studies are essential for gathering critical disease prevalence data. Automated pathogenicity assessment tools enhance the capacity to interpret and annotate large amounts of genetic data. In this study, we assessed the prevalence of cancer-associated germline variants in Russia using a semiautomated variant interpretation algorithm.MethodsWe examined 74,996 Russian adults (Group 1) and 2,872 long-living individuals aged ≥ 90 years (Group 2) for variants in 28 ACMG-recommended cancer-associated genes in three steps: InterVar annotation; ClinVar interpretation; and a manual review of the prioritized variants based on the available data. Using the data on the place of birth and the region of residence, we determined the geographical distribution of the detected variants and tracked the migration dynamics of their carriers.ResultsWe report 175 novel del-VUSs. We detected 232 pathogenic variants, 46 likely pathogenic variants, and 216 del-VUSs in Group 1 and 19 pathogenic variants, 2 likely pathogenic variants, and 16 del-VUSs in Group 2. For each detected variant, we provide a description of its functional significance and geographical distribution.ConclusionThe present study offers extensive genetic data on the Russian population, critical for future genetic research and improved primary cancer prevention and genetic screening strategies. The proposed hybrid assessment algorithm streamlines variant prioritization and pathogenicity assessment and offers a reliable and verifiable way of identifying variants of uncertain significance that need to be manually reviewed.
Impact of COVID−19 pandemic on neurodevelopmental outcome in very low birth weight infants: a nationwide cohort study
Authors: Kim Hyuna , Jang Yong Hun , Lee Joo Young , Lee Gang Yi , Sung Jae Yong , Kim Mi Jung , Lee Bong Gun , Yang Seung , Kim Jinsoo , Yoon Kyung Seu , Ahn Ja-Hye , Lee Hyun Ju 
Published: September 2024

IntroductionChildren who have experienced the coronavirus disease 2019 (COVID-19) pandemic are at an increased risk of adverse neurologic developmental outcomes. Limited data exist on the environmental influences of during the COVID-19 pandemic on preterm infant development. This study aimed to investigate whether COVID-19 exposure affects the neurodevelopmental outcomes in preterm children up to 3 years of age.MethodsThis prospective cohort study included all very low birth weight (VLBW) infants from the Korean Neonatal Network who had undergone a neurodevelopmental assessment between January 2015, and May 2022. The neurodevelopmental outcomes along with the scores on the Bayley Scales of Infant and Toddler Development (BSID) and the Korean Developmental Screening Test for Infants and Children of pediatric patients aged 18–24 and 33–39 months who were exposed to COVID-19 were compared with those of VLBW children born and tested before the pandemic.ResultsThe cohort included 1,683 VLBW infants. The pandemic group had significantly lower language scores on the BSID-III at ages 18–24 months (p = 0.021) and 33–39 months (p = 0.023) than the pre-pandemic group after adjusting for gestational age, morbidity, and environmental factors. At 2nd follow-up period, the pandemic group showed significantly lower scores in the cognitive (p = 0.026) domains with a mean difference of 7 points and had a significantly higher percentage of ≤−1SD in the gross motor domain (p &lt; 0.001) compared with the pre-pandemic group.ConclusionPreterm children who experienced the COVID-19 pandemic are at higher risk of abnormal neurodevelopmental outcomes in the first 3 years of life than preterm infants born before the COVID-19 pandemic.
Genome assembly of Stephania longa provides insight into cepharanthine biosynthesis
Authors: Shang Huiying , Lu Yuan , Xun Lulu , Wang Kun , Li Bin , Liu Yuxuan , Ma Tao 
Published: September 2024

IntroductionStephania longa, a medicinal plant renowned for producing cepharanthine, has gained significance due to the compound's notable antiviral properties against SARS-CoV-2. However, a comprehensive genetic understanding of S. longa has been lacking. This study aimed to develop a high-quality, chromosome-level genome assembly to uncover the genetic intricacies and evolutionary narrative of this species. By integrating genomic data with metabolomic and transcriptomic analyses, we sought to identify key genes involved in cepharanthine biosynthesis.MethodsWe employed a multi-faceted approach comprising genome assembly, phylogenetic analysis, gene family dynamics investigation, metabolomic profiling, and gene expression analysis across various tissues of S. longa. This integrated strategy enabled the identification of key genes involved in cepharanthine biosynthesis and elucidated the species’ evolutionary history.ResultsOur phylogenetic analysis clarified the placement of the genus Stephania within the Ranunculales order and revealed its notably high mutation rate. We identified gene family expansions and signs of positive selection likely contributing to Stephania’s unique metabolic capabilities. Metabolomic profiling uncovered complex regulatory mechanisms orchestrating the biosynthesis and distribution of cepharanthine and related metabolites. Through the integration of genomic, transcriptomic, and metabolomic data, we identified genes with expression patterns and evolutionary trajectories suggesting pivotal roles in cepharanthine biosynthesis, including those involved in crucial biosynthetic steps.DiscussionThis comprehensive study, integrating genomic, metabolomic, and transcriptomic approaches, provides valuable insights into S. longa's biosynthetic potential. It not only enhances our understanding of the species but also establishes a foundation for future investigations into the biosynthesis and therapeutic exploitation of cepharanthine and related alkaloids.