bluuebunny/crossref_metadata_2025_split huggingface dataset:
Monogenic diabetes in a Chinese population with young‐onset diabetes: A 17‐year prospective follow‐up study in Hong Kong
Authors: Tsoi Sandra T. F. , Lim Cadmon , Ma Ronald C. W. , Lau Eric S. H. , Fan Baoqi , Chow Elaine , Kong Alice P. S. , Chan Juliana C. N. , Luk Andrea O. Y. 
Published: June 2024

AbstractAimsAsians have a high prevalence of young‐onset diabetes, but the pattern of monogenic diabetes is unknown. We aimed to determine the prevalence of monogenic diabetes in Chinese patients with young‐onset diabetes and compare the clinical characteristics and outcome between patients with and without monogenic diabetes.Materials and MethodsWe sequenced a targeted panel of 33 genes related to monogenic diabetes in 1021 Chinese patients with non‐type 1 diabetes diagnosed at age ≤40 years. Incident complications including cardiovascular disease (CVD), end‐stage kidney disease (ESKD) and all‐cause death were captured since enrolment (1995–2012) until 2019.ResultsIn this cohort (mean ± SD age at diagnosis: 33.0 ± 6.0 years, median[IQR] diabetes duration 7.0[1.0–15.0] years at baseline, 44.9% men), 22(2.2%, 95% confidence interval[CI] 1.4%–3.2%) had monogenic diabetes. Pathogenic (P) or likely pathogenic (LP) variants were detected in GCK (n = 6), HNF1A (n = 9), HNF4A (n = 1), PLIN1 (n = 1) and PPARG (n = 2), together with copy number variations in HNF1B (n = 3). Over a median follow‐up of 17.1 years, 5(22.7%) patients with monogenic diabetes (incidence rate 12.3[95% CI 5.1–29.4] per 1000 person‐years) versus 254(25.4%) without monogenic diabetes (incidence rate 16.7[95% CI 14.8–18.9] per 1000 person‐years) developed the composite outcome of CVD, ESKD and/or death (p = 0.490). The multivariable Cox model did not show any difference in hazards for composite events between groups.ConclusionsIn Chinese with young‐onset non‐type 1 diabetes, at least 2% of cases were contributed by monogenic diabetes, over 80% of which were accounted for by P/LP variants in common MODY genes. The incidence of diabetes complications was similar between patients with and without monogenic diabetes.
Proteomic profiling of TBC1 domain family member 21‐null sperms reveals the critical roles of TEKT 1 in their tail defects
Authors: Pan Pei‐Yi , Ke Chih‐Chun , Wang Ya‐Yun , Lin Yu‐Hua , Ku Wei‐Chi , Au Chin‐Fong , Chan Chying‐Chyuan , Huang Chia‐Yen , Lin Ying‐Hung 
Published: June 2024

AbstractBackgroundApproximately 7% of the males exhibit reduced fertility; however, the regulatory genes and pathways involved remain largely unknown. TBC1 domain family member 21 (TBC1D21) contains a conserved RabGAP catalytic domain that induces GDP/GTP exchange to inactivate Rabs by interacting with microtubules. We previously reported that Tbc1d21‐null mice exhibit severe sperm tail defects with a disrupted axoneme, and that TBC1D21 interacts with RAB10. However, the pathological mechanisms underlying the Tbc1d21 loss‐induced sperm tail defects remain unknown.ResultsMurine sperm from wild‐type and Tbc1d21‐null mice were comparatively analyzed using proteomic assays. Over 1600 proteins were identified, of which 15 were significantly up‐regulated in Tbc1d21‐null sperm. Notably, several tektin (TEKT) family proteins, belonging to a type of intermediate filament critical for stabilizing the microtubular structure of cilia and flagella, were significantly up‐regulated in Tbc1d21−/− sperm. We also found that TBC1D21 interacts with TEKT1. In addition, TEKT1 co‐localized with RAB10 during sperm tail formation. Finally, we found Tbc1d21‐null sperm exhibited abnormal accumulation of TEKT1 in the midpiece region, accompanied by disrupted axonemal structures.ConclusionsThese results reveal that TBC1D21 modulates TEKTs protein localization in the axonemal transport system during sperm tail formation.
Investigating pelagic biodiversity and gelatinous zooplankton communities in the rapidly changing European Arctic: An eDNA metabarcoding survey
Authors: Murray Ayla , Priest Taylor , Antich Adria , von Appen Wilken‐Jon , Neuhaus Stefan , Havermans Charlotte 
Published: June 2024

AbstractFram Strait, the gateway between the Arctic and Atlantic Oceans, is undergoing major climate change‐induced physical and biological transformations. In particular, rapid warming and ongoing “Atlantification” are driving species range shifts and altering food web structures in the Arctic. Understanding and predicting the consequences of these processes on future ecosystems requires detailed assessments of local and pelagic biodiversity. Gelatinous zooplankton (GZP) is an important component of pelagic communities, and recent evidence indicates that such communities are undergoing major changes in the Fram Strait. However, as sampling GZP is challenging, they are regularly underestimated in biodiversity, distribution, and abundance. To overcome this and address existing ecological knowledge gaps, we investigated patterns of pelagic metazoan diversity in Fram Strait using environmental DNA (eDNA) metabarcoding of the cytochrome c oxidase I (COI) gene. We successfully detected a broad range of taxa from the marine metazoan and GZP communities across sampling locations and ocean depth zones. We demonstrate the vertical structuring of diversity and elucidate relationships between taxa and water mass indicators, such as salinity and temperature. Furthermore, when comparing eDNA data with net and video transect data for GZP at the same period and location, we found that eDNA uncovered a higher number of taxa, including several that were not detected by the other methods. This study is a contribution to the formation of baseline Arctic GZP biodiversity datasets, as well as future research on changing marine metazoan biodiversity and community composition.
Heart Failure score and outcomes in patients with preserved ejection fraction after catheter ablation for atrial fibrillation
Authors: Sumiyoshi Hironobu , Tasaka Hiroshi , Yoshida Kenta , Yoshino Mitsuru , Kadota Kazushige 
Published: June 2024

AbstractAimsAtrial fibrillation (AF) is frequently associated with heart failure with preserved ejection fraction (HFpEF), but the diagnosis and prediction of the outcomes of HFpEF are difficult. Notably, the Heart Failure Association of the European Society of Cardiology proposed the use of the HFA–PEFF score in the diagnosis of HFpEF. This study aimed to assess the prognostic value of the pre‐ and post‐procedural HFA–PEFF scores in patients with preserved ejection fraction (EF) after catheter ablation (CA) for AF. The primary endpoint was a composite of cardiac hospitalization for cardiovascular events and all‐cause mortality. The secondary endpoint was AF recurrence.Methods and resultsOverall, 354 patients with AF and preserved EF who underwent CA as well as blood tests and transthoracic echocardiography 2 weeks before and 6 months after CA from January 2018 to December 2019 were retrospectively enrolled in the study.In the 354 participants, univariate analysis showed that the post‐procedural HFA–PEFF score was associated with a 3‐year risk of the primary endpoint (hazard ratio [HR] = 3.73; 95% confidence interval [CI] = 2.07–6.73; P < 0.001), whereas the pre‐procedural HFA–PEFF score was not (HR = 1.24, 95% CI = 0.82–1.86, P = 0.307). Further, the association between the post‐procedural HFA–PEFF score and primary endpoint was not modified even after including other relevant variables into the score. Similar to the primary endpoint, the post‐procedural HFA–PEFF score was associated with the 3‐year risk of AF recurrence (P < 0.001).ConclusionsIn patients with preserved EF undergoing AF ablation, the HFA–PEFF score at 6 months after CA was associated with the primary endpoint and AF recurrence at the 3‐year follow‐up.
Activation of additively manufactured electrodes using methanol and ethanol solutions
Authors: Williams Rhys J. , Crapnell Robert D. , Brine Tom , Banks Craig E. 
Published: June 2024

AbstractThe use of polymer additive manufacturing to produce electrodes is an increasingly popular area of electrochemical research. However, one downside of additively manufactured electrodes is the frequent need to remove polymer from the electrode surface to reveal a triple‐phase boundary in order for improved electrode performance to be realized. A common way to achieve this, is surface activation via chronoamperometry within an aqueous sodium hydroxide solution. However, it has not been investigated whether the same activation can be carried out effectively in solutions of sodium hydroxide in simple alcohols. Therefore, in this work, we study the effect of performing common chronoamperometric additive manufacturing electrode activation methodologies in methanolic and ethanolic solutions of 0.05 M sodium hydroxide and compare these to activation carried out in standard aqueous solutions at concentrations of both 0.05 M and 0.5 M. We show that the alcoholic solutions are more effective in removing polymer from the additive manufacturing electrode surface, but that this does not lead to any improvement in electrode currents, and furthermore appears to hinder electron transfer kinetics at the additive manufacturing electrode surface, with the latter effect shown to be related to differences in the surface functionality of the exposed carbon black filler particles. As well as being interesting chemical experiments in their own right, these results may well be of interest to electrochemists who intend for their additive manufactured electrodes to be applied in these alcohols or indeed other non‐aqueous solvents.
Structured multifractal scaling of the principal cryptocurrencies: Examination using a self‐explainable machine learning
Authors: Saâdaoui Foued , Rabbouch Hana 
Published: June 2024

AbstractThis paper introduces a novel statistical testing technique known as segmented detrended multifractal fluctuation analysis (SMF‐DFA) to analyze the structured scaling properties of financial returns and predict the long‐term memory of financial markets. The proposed methodology is applied to assess the efficiency of major cryptocurrencies, expanding upon conventional approaches by incorporating different fluctuation regimes identified through a change‐point detection test. A single‐factor model is employed to characterize the endogenous factors influencing scaling behavior, leading to the development of a self‐explanatory machine learning approach for price forecasting. The proposed method is evaluated using daily data from three major cryptocurrencies spanning from April 2017 to December 2022. The analysis aims to determine whether the digital market has experienced significant changes in recent years and assess whether this has resulted in structured multifractal behavior. The study identifies common periods of local scaling among the three prices, with a noticeable decrease in multifractality observed after 2018. Furthermore, complementary tests on shuffled and surrogate data are conducted to explore the distribution, linear correlation, and nonlinear structure, shedding light on the explanation of structured multifractality to some extent. Additionally, prediction experiments based on neural networks fed with multi‐fractionally differentiated data demonstrate the utility of this new self‐explanatory algorithm for decision‐makers and investors seeking more accurate and interpretable forecasts.
Alcohol and substance use in older adults with treatment‐resistant depression
Authors: Srifuengfung Maytinee , Lenze Eric J. , Roose Steven P. , Brown Patrick J. , Lavretsky Helen , Karp Jordan F. , Reynolds Charles F. , Yingling Michael , Sa‐nguanpanich Naratip , Mulsant Benoit H. 
Published: June 2024

AbstractIntroductionAlcohol and substance use are increasing in older adults, many of whom have depression, and treatment in this context may be more hazardous. We assessed alcohol and other substance use patterns in older adults with treatment‐resistant depression (TRD). We examined patient characteristics associated with higher alcohol consumption and examined the moderating effect of alcohol on the association between clinical variables and falls during antidepressant treatment.MethodsThis secondary and exploratory analysis used baseline clinical data and data on falls during treatment from a large randomized antidepressant trial in older adults with TRD (the OPTIMUM trial). Multivariable ordinal logistic regression was used to identify variables associated with higher alcohol use. An interaction model was used to evaluate the moderating effect of alcohol on falls during treatment.ResultsOf 687 participants, 51% acknowledged using alcohol: 10% were hazardous drinkers (AUDIT‐10 score ≥5) and 41% were low‐risk drinkers (score 1–4). Benzodiazepine use was seen in 24% of all participants and in 21% of drinkers. Use of other substances (mostly cannabis) was associated with alcohol consumption: it was seen in 5%, 9%, and 15% of abstainers, low‐risk drinkers, and hazardous drinkers, respectively. Unexpectedly, use of other substances predicted increased risk of falls during antidepressant treatment only in abstainers.ConclusionsOne‐half of older adults with TRD in this study acknowledged using alcohol. Use of alcohol concurrent with benzodiazepine and other substances was common. Risks—such as falls—of using alcohol and other substances during antidepressant treatment needs further study.
Analytical Interference in Chemiluminescence Assay–Measured Angiotensin I, Angiotensin II, Aldosterone, and Renin
Authors: Xu Xiaohua , Xu Yongzhi , Liang Shengqiang 
Published: June 2024

ABSTRACTBackgroundThe interference can be a significant source of laboratory errors with the potential to cause immunoassay results to drift. Therefore, we evaluated the interference in various endogenous and exogenous substances on immunoassay for angiotensin I (Ang I), angiotensin II (Ang II), aldosterone, and renin in vitro.MethodsTen endogenous and eight exogenous substances were evaluated at supraphysiologic or supratherapeutic plasma levels using the screening study to identify potential interfering substances. Subsequently, potential interfering substances were further tested within maximum pathological or therapeutic plasma concentration ranges using the dose–response study to determine whether the interference has a significant bias. According to preset acceptance criteria, the interference in potential interfering substances for Ang I, Ang II, and renin and aldosterone assays was determined.ResultsSix potential interfering substances for Ang I immunoassays were identified, namely valsartan, nifedipine, spironolactone, cholesterol, hemoglobin, and triglyceride. Meanwhile, ethanol, nifedipine, spironolactone, heparin sodium, warfarin, hemoglobin, uric acid, cholesterol, and triglyceride appeared to have potential interference in the Ang II assay. Three identified as possible interferents for aldosterone immunoassays were glucose, valsartan, and spironolactone. Moreover, warfarin, valsartan, spironolactone, uric acid, cholesterol, bilirubin unconjugated, triglyceride, and hemoglobin were potential interfering substances for renin immunoassays. However, only spironolactone of these potential interfering substances exceeded preset mean bias limits (less than ±10.0%) in aldosterone immunoassays.ConclusionExogenous spironolactone caused clinically significant interference in aldosterone immunoassays. Moreover, the interference in other substances was acceptable in Ang I, Ang II, and renin and aldosterone immunoassays.
Parenting practices as a buffer in the relationship between exposure to community violence and bullying in Mexican adolescents
Authors: Valdés‐Cuervo Angel Alberto , Parra‐Pérez Lizeth Guadalupe , Yañez‐Quijada Adrian Israel , Reyes‐Rodríguez Ana Carolina 
Published: June 2024

AbstractMultiple studies have shown that adolescents exposed to community violence are likely to engage in bullying behaviors. However, we still need to understand which variables can help reduce the influence of community violence exposure (CVE) on bullying. To investigate this question, a study was conducted with a sample of 568 Mexican adolescents, comprising 276 (48.6%) males and 292 (51.4%) females aged 12 to 16 years old (M age = 13.7 years, SD = 0.82). The study examined how parental support (PS) and parental induction to justice sensitivity (JS) can moderate the relationship between CVE and bullying. The study used structural equation modeling with latent variables. The results showed that CVE was positively associated with bullying, whereas PS and the induction to perpetrator JS were negatively associated. The moderation analysis suggests that the relationship between CVE and bullying was weaker among adolescents who received high PS. On the other hand, low and high parental induction to JS had the same moderating effect. Based on the findings, parental practices are critical when developing preventive programs to reduce the harmful effects of CVE on bullying behavior.
Aortic dissection: How to identify it during an abdominal ultrasound examination and achieve a potentially lifesaving diagnosis
Authors: Corvino Antonio , Lonardo Valeria , Tafuri Domenico , Cocco Giulio , Pizzi Andrea Delli , Boccatonda Andrea , Corvino Fabio , Costantino Thomas G. , Horer Tal , Catalano Orlando 
Published: June 2024

AbstractAortic dissection (AD) is a rare and potentially fatal condition that may be diagnosed late. During an emergency or elective abdominal ultrasound (US) examination, when going to evaluate the abdominal aorta for other reasons, it may happen that we find ourselves suspecting an AD. It is therefore important to know the US characteristics of this pathology to avoid wrong or missed diagnoses. Here, we present our practical experience regarding the application of US in the study of the abdominal aorta, which allowed us on several occasions to find an unexpected dissection in patients brought to our attention for other reasons.
Ultrasonographic characteristics of testicular renal cell carcinoma metastasis: A case report and literature review
Authors: Gökçek Özcan , Koptay Medine Sinem , Özkan Simay Bozpınar 
Published: June 2024

AbstractRenal cell carcinoma (RCC) extremely rarely metastasizes to the testis. To date, only three reports have documented bilateral testicular metastasis of RCC. Here, we review the ultrasonographic characteristics of testicular metastasis of renal cell carcinoma cases in the literature and present a 43‐year‐old patient with von Hippel–Lindau (VHL) disease who was diagnosed with bilateral testicular metastasis of RCC many years after nephrectomy, with ultrasonographic‐pathological correlation.
Comparative macroanatomical and scanning electron microscopy study of the eyeball in brachycephalic and mesocephalic dog breeds
Authors: Yılmaz Cengizhan , Kabak Murat , Selviler Sizer Sedef 
Published: June 2024

AbstractThe anatomical structures forming the eyeball differ among dog breeds, both morphologically and morphometrically. This study was aimed at determining the morphometric values of the eyeball layers of different dog breeds and the morphological structures of these layers using scanning electron microscopy. Thirty‐two eyeballs of 17 dogs belonging to 9 different breeds that died from traffic accidents, falling from a height, and naturally were used. These dog breeds were grouped according to their brachycephalic and mesocephalic skull structures, and morphometric measurements of the eyeballs of each group were obtained. Scanning electron microscopy was used to examine the morphological structure of the eyeball layers. The studied dogs' eyeballs comprised three layers: outer, middle, and inner. Thickness measurements obtained from three different regions of the eyeball indicated that the equatorial region was the thinnest among all dog breeds. Moreover, the cornea, which is covered by the sclera along its edges, was thicker at the corneal limbus than at the corneal vertex. A positive correlation was observed between lens thickness and the number of ciliary processes, which varied according to the dogs' head structures. Notably, depression was observed in the posterior surface of the lens in brachycephalic dogs. The morphometric values of the eyeball layers in the brachycephalic and mesocephalic dog breeds were also determined. These values will help researchers study this subject, and the determined morphometric and morphological values will contribute to the anatomy literature.Research Highlights
This comprehensive study investigates the morphometric and morphological variations in the eyeball layers of different dog breeds, utilizing scanning electron microscopy to analyze eyeballs. It reveals significant breed‐specific differences, particularly between brachycephalic and mesocephalic dogs, regarding eyeball layer thickness, corneal structure, lens thickness, and the number of ciliary processes.
Observations Regarding the Detection of Abnormal Findings Following a Cancer Screening Whole‐Body MRI in Asymptomatic Subjects: The Psychological Consequences and the Role of Personality Traits Over Time
Authors: Conti Lorenzo , Mazzoni Davide , Marzorati Chiara , Grasso Roberto , Busacchio Derna , Petralia Giuseppe , Pravettoni Gabriella 
Published: June 2024

BackgroundThe use of whole‐body MRI (WB‐MRI) in oncology has uncovered frequent unexpected abnormal findings (AFs). However, the impact of AFs on the patients' mental well‐being is still poorly examined.PurposeTo investigate the long‐term psychological consequences of AF detection following WB‐MRI for cancer screening in asymptomatic individuals.Study TypeProspective, longitudinal.Population121 consecutive subjects of the general population (mean age = 52.61 ± 11.39 years; 63% males) scheduled for cancer screening by WB‐MRI.Field Strength/Sequence1.5‐T and 3‐T; protocol complied with Oncologically Relevant Findings Reporting and Data System (ONCO‐RADS) guidelines.AssessmentParticipants completed the first psychological investigation (T0) immediately after the WB‐MRI. Subsequently, it was repeated after 1‐year (T1), and 4‐years (T2, subgroup of 61 participants) without an MRI exam, assessing personality traits, tumor risk perception, quality of life, depressive, and anxious symptoms. Radiologists directly reported WB‐MRI findings to the participants, explaining the clinical implications and the location of the AFs. The number and severity of AFs were assessed.Statistical TestsPearson's correlations and analysis of variance with repeated measures assessed the psychological health variables' relationship and their changes over time. A P‐value <0.05 was considered statistically significant.ResultsAll participants presented AFs, with 101 individuals categorized as ONCO‐RADS 2 and 19 as ONCO‐RADS 3. The AFs were most prevalent in bones (31.5%). The overall participants showed only a slight increase in depressive symptoms at T1 [F(1,112) = 7.54]. The severity and the number of AFs were not significantly related to psychological changes [ranging from P = 0.503 to P = 0.997]. Depressive and anxious symptoms over time were significantly affected by the traits of conscientiousness [T1: F(1,112) = 7.87; T2: F(1.708,90.544) = 3.40] and openness [T1: F(1,112) = 4.41].Data ConclusionDisclosing AFs by WB‐MRI exams for cancer screening may not lead to long‐term psychosocial consequences. Certain personality traits may, however, influence the psychological distress experienced by individuals with AFs after WB‐MRI exams.Level of Evidence2.Technical EfficacyStage 5.