bluuebunny/crossref_metadata_2025_split huggingface dataset:
Automatic diagnostic support for diagnosis of pulmonary fibrosis
Authors: Pal Ravi , Barney Anna , Sgalla Giacomo , Walsh Simon L. F. , Sverzellati Nicola , Fletcher Sophie , Cerri Stefania , Cannesson Maxime , Richeldi Luca 
Published: August 2024

AbstractPatients with pulmonary fibrosis (PF) often experience long waits before getting a correct diagnosis, and this delay in reaching specialized care is associated with increased mortality, regardless of the severity of the disease. Early diagnosis and timely treatment of PF can potentially extend life expectancy and maintain a better quality of life. Crackles present in the recorded lung sounds may be crucial for the early diagnosis of PF. This paper describes an automated system for differentiating lung sounds related to PF from other pathological lung conditions using the average number of crackles per breath cycle (NOC/BC). The system is divided into four main parts: (1) preprocessing, (2) separation of crackles from normal breath sounds, (3) crackle verification and counting, and (4) estimating NOC/BC. The system was tested on a dataset consisting of 48 (24 fibrotic and 24 non-fibrotic) subjects and the results were compared with an assessment by two expert respiratory physicians. The set of HRCT images, reviewed by two expert radiologists for the presence or absence of pulmonary fibrosis, was used as the ground truth for evaluating the PF and non-PF classification performance of the system. The overall performance of the automatic classifier based on receiver operating curve-derived cut-off value for average NOC/BC of 18.65 (AUC=0.845, 95 % CI 0.739-0.952, p<0.001; sensitivity=91.7 %; specificity=59.3 %) compares favorably with the averaged performance of the physicians (sensitivity=83.3 %; specificity=56.25 %). Although radiological assessment should remain the gold standard for diagnosis of fibrotic interstitial lung disease, the automatic classification system has strong potential for diagnostic support, especially in assisting general practitioners in the auscultatory assessment of lung sounds to prompt further diagnostic work up of patients with suspect of interstitial lung disease.
Association of Right Heart Structure and Function with Cognition and Brain MRI Measures in the Multi-Ethnic Study of Atherosclerosis
Authors: Kamel Hooman , Heckbert Susan R. , Hughes Timothy M. , Schaich Christopher L. , Lockhart Samuel N. , Jimenez Marcia Pescador , Longstreth W.T. , Austin Thomas R. , Bryan R. Nick , Erus Guray , Srinivasan Dhivya , Nasrallah Ilya M. , Iadecola Costantino , Shah Sanjiv J. 
Published: August 2024

BackgroundRecent studies in selected populations suggest that impaired venous return may affect brain health. We examined associations of right heart structure and function with cognition and MRI markers of brain health in a community-based cohort.MethodsThe Multi-Ethnic Study of Atherosclerosis (MESA) is a longitudinal cohort study of individuals 45 to 84 years of age who were free of clinically apparent cerebrovascular or cardiovascular disease at baseline in 2000-2002. From echocardiograms performed at Exam 6 during 2016-2018, we measured: right atrial pressure and end-systolic area; pulmonary artery systolic pressure; and right ventricular free wall strain, fractional area change, and end-diastolic area. Outcome variables were the Cognitive Assessment Screening Instrument, Digit Span, and Digit Symbol Coding tests and MRI-determined volumes of total white matter, total gray matter, and white matter hyperintensity -- as well as fractional anisotropy. Cognitive measures were obtained at Exam 6, and MRI measures, within a median of 18 months of echocardiograms. Covariates were demographics,APOE-ε4 allele status, vascular risk factors, and echocardiographic markers of left heart function. We used general linear models to examine associations between each exposure and outcome variable.ResultsIn 1,913 participants with cognitive testing and echocardiography data, we found no associations between any of the echocardiographic exposure variables and worse scores on any of the cognitive tests. Similarly, in 1,035 participants with echocardiography and MRI data, we found no associations between any of the echocardiographic exposure variables and any of the MRI variables.DiscussionWe found no associations in this cohort of right heart structure and function with cognition or brain MRI measures. These findings do not support the hypothesis that right heart dysfunction impedes venous return sufficiently to adversely affect brain health among people without clinically apparent heart failure.
A novel fusion method of 3D MRI and test results through deep learning for the early detection of Alzheimer’s disease
Authors: Atalar Arman , Adar Nihat , Okyay Savaş 
Published: August 2024

AbstractAlzheimer’s disease (AD) is a prevalent form of dementia that impacts brain cells. Although its likelihood increases with age, there is no transitional period between its stages. In order to enhance diagnostic precision, physicians rely on clinical judgments derived from interpreting health data, considering demographics, clinical history, and laboratory results to detect AD at an early stage. While patient cognitive tests and demographic information are primarily presented in text, brain scan images are presented in graphic formats. Researchers typically use different classifiers for each data format and then merge the classifier outcomes to maximize classification accuracy and utilize all patient-related data for the final decision. However, this approach leads to low performance, diminishing predictive abilities and model effectiveness.We propose an innovative approach that combines diverse textual health records (HR) with three-dimensional structural magnetic resonance imaging (3D sMRI) to achieve a similar objective in computer-aided diagnosis, utilizing a novel deep learning technique. Health records, encompassing demographic features like age, gender, apolipoprotein gene, and mini-mental state examination score, are fused with 3D sMRI, enabling a graphic-based deep learning strategy for early AD detection. The fusion of data is accomplished by representing textual information as graphic pipes and integrating them into 3D sMRI, a method referred to as the “pipe-laying” method.Experimental results from over 4000 sMRI scans of 780 patients in the AD Neuroimaging Initiative (ADNI) dataset demonstrate that the pipe-laying method enhances recognition accuracy rates for Early and Late Mild Cognitive Impairment (MCI) patients, accurately classifying all AD patients. In a 4-class AD diagnosis scenario, accuracy improved from 86.87% when only 3D images were used to 90.00% when 3D sMRI and patient health records were included. Thus, the positive impact of combining 3D sMRI with HR on 4-class AD diagnosis was established.
Efficacy and safety of 10-day versus 14-day bismuth-containing quadruple therapy for H. pylori eradication: A systematic review and meta-analysis
Authors: Gohar Najam , Ejaz Zoya , Ahmed Faizan , Rafay Abdul , Humayun Abdullah , Nisar Momna , Mushtaq Ali , Ghouri Aanusha , Zafar Fatima , Khalid Hira , Afzal Sania , Khan Hammad , Cheema Huzaifa Ahmed , Shahzil Muhammad , Rashad Essam , Awan Rehmat Ullah , Jalal Prasun K 
Published: August 2024

AbstractBackgroundNearly half of the world population is infected byHelicobacter pylori (H. pylori).Bismuth-containing quadruple therapy (BQT) has shown favorable outcomes. This study compares 10-day and 14-day BQT regimens to evaluate their efficacy, safety, and compliance rates.MethodsWe searched electronic databases from their inception until May 2024 to retrieve all randomized controlled trials (RCTs) that compared 10-day and 14-day BQT regimens forH. pylorieradication. Meta-analysis was performed using Review Manager 5.4. Dichotomous outcomes were compared using risk ratio (RR).ResultsSeven RCTs and a total of 2,424 patients were included in the meta-analysis. There was no significant difference in the intention-to-treat eradication rate (RR 0.97; 95% CI 0.94, 1.01) and the per-protocol eradication rate (RR 0.96; 95% CI 0.93, 1.00) between the 10-day BQT and 14-day BQT groups. Commonly reported adverse events in both groups were epigastric pain and discomfort, nausea, and vomiting. There was no significant difference in the risk of adverse events between the two groups (RR 0.80; 95% CI 0.63, 1.02). There was no significant difference in the compliance rate between the two groups (RR 1.02; 95% CI 1.00, 1.04).ConclusionThe eradication rates, risk of adverse events, and compliance rates were comparable between the two groups. Future research comparing similar drug doses with larger sample sizes and longer patient follow-ups can improve the quality of results.HighlightsOur meta-analysis comprising 2424 patients showed that patients receiving 10-day bismuth-containing quadruple therapy had comparable eradication rates to those receiving 14-day bismuth-containing quadruple therapy forHelicobacter pylori.Additionally, there was no significant difference between the two groups for compliance and risk of adverse events.Antibiotic resistance was associated with lower eradication rates in both treatment groups.
Increased Risk of Alzheimer’s Disease Affected by Weight Changes but Not by Body Mass Index
Authors: Roh Jee Hoon , Jung Inha , Kim Hyun Jung 
Published: August 2024

AbstractBackgroundAlzheimer’s disease (AD) is an intractable and multi-factorial neurodegenerative disorder. Given the globally rapid increase in obesity and its role in AD pathogenesis, understanding the impact of body weight, its changes, and the role of physical activity on AD development can provide important guidance for preventative strategies.MethodsThis population-based retrospective cohort study analyzed data from Korean national health and disability databases, including 3,741,424 individuals aged 30 to 80 years at baseline, who underwent health assessments between 2003 and 2006, followed by biennial check-ups over a decade. Exposures included BMI categories (underweight, normal, overweight, obese) and body weight changes (stable, acute increase, steady increase, weight cycling, acute decrease, steady decrease). Regular physical activity was defined as consistent weekly exercise over ten years. The primary outcome was AD incidence, identified by ICD-10 codes F00 or G30. Hazard ratios (HRs) were calculated using Cox proportional hazard models adjusted for multiple risk factors.ResultsBaseline BMI was not significantly associated with AD incidence after adjusting for confounders, except for underweight (adjusted HR [aHR], 1.10, 95% CI, 1.05-1.15). Weight changes were significantly linked to increased AD risk, particularly weight cycling (aHR, 1.37, 95% CI, 1.35-1.40), acute decrease (aHR, 1.78, 95% CI, 1.55-2.03), and steady decrease (aHR, 1.33, 95% CI, 1.30-1.35). Regular physical activity mitigated these risks, nullifying statistical significance.ConclusionWeight changes are significant risk factors for AD, and regular physical activity mitigates these risks. Public health strategies should focus on maintaining stable weight and promoting consistent physical activity.Key messagesWhat is already known on this topicPrevious studies assessing the risk of Alzheimer’s disease (AD) in relation to body weight or body mass index (BMI) have shown inconsistent results, probably due to short periods of follow-up, limited assessment of AD risk factors, and lack of washout periods to exclude the potential reverse causation between weight changes and AD development.What this study addsIn an 18-year cohort study with 3741424 adults in Korea, weight changes significantly impacted the risk of AD, while baseline BMI did not. Both increases and decreases in weight, as well as weight cycling, increased the risk of AD after controlling for AD risk factors. Regular physical activity, defined as at least one exercise per week over the 10-year period, mitigated these risks.How this study might affect research, practice or policyThese findings suggest that maintaining stable body weight and engaging in regular physical activity may be crucial in reducing the risk of AD, emphasizing the need for public health strategies focusing on weight stability and consistent exercise rather than simple correction of body weight.
Analysis of Extraocular muscle volumes in idiopathic Hypertrophic Pachymeningitis patients
Authors: Kitkamolwat Suppakul , Soonthornpusit Supichaya , Eiamsamarng Akarawit , Rattanathamsakul Natthapon , Chirapapaisan Niphon , Ngamsombat Chanon 
Published: August 2024

AbstractBackgroundIdiopathic hypertrophic pachymeningitis (HP) is a rare chronic inflammatory condition without an identifiable cause characterized by fibrous thickening of the dura mater, which can involve the extraocular muscles (EOM).ObjectiveTo evaluate volumetric changes of EOM in idiopathic HP patients compared with healthy controls (HC) and study the correlation with ocular motility disturbance.Materials and methodsA retrospective study of 22 diagnosed idiopathic HP patients and 22 age-matched, sex-matched HC underwent a 3T MRI scan from January 1, 2017, to December 31, 2022. EOM was manually segmented from the T1W image using 3D Slicer software, and volume was calculated using FSL software. T-tests and Mann-Whitney U tests were used to compare EOM volumes between the idiopathic HP and control groups. Pearson’s correlation coefficient was then used to assess the correlation between ocular motility and EOM enlargement.ResultsIn idiopathic HP patients, the average EOM volumes, including the medial rectus (MR), inferior rectus (IR), inferior oblique (IO), right lateral rectus (LR), right superior oblique (SO), and left superior rectus (SR) muscles, were significantly larger compared to those in HC, particularly in the left IR and both MR. However, there was no significant correlation between the enlargement of these 9 EOMs and the extraocular movement limitation.ConclusionIn idiopathic HP patients, significantly larger EOM volumes were found compared to control subjects. This enlargement could be due to the diffuse infiltrative histopathology potentially involving microstructures in the EOM. Extraocular movement limitations may be related to cranial nerve involvement.
Low incidence of adverse events or construct failure of a novel high-strength No.2 round suture in rotator cuff repair: An IDEAL Stage 2a assessment retrospective cohort analysis
Authors: Moody Cooper , Scholes Corey , Fatima Manaal , Eng Kevin , Brown Graeme , Page Richard S 
Published: August 2024

AbstractBackgroundDespite technical and material improvements in rotator cuff repair (RCR) clinical and radiological failure remains common. Following suture fixation, tension and footprint compression decrease from time zero. A novel suture (Dynacord, Depuy Synthes) has been designed to shorten when submerged in liquid to maintain tension and increase repair construct security.MethodsA retrospective cohort analysis was performed on the PRULO (Patient Reported Outcomes in Upper Limb Surgery) registry for 12 months follow up after RCR using this suture regarding all cause failure, rates of common complications, Quick Disability of the Arm, Shoulder and Hand (QuickDASH), and Western Ontario Rotator Cuff Index (WORC). Summary statistics were generated for patient characteristics and patient-reported outcome measures (PROMs) analysed using multiple imputation and a linear model to assess changes over 12 months follow up.ResultsA cohort of 236 cases was included for analysis. Complication rates and functional improvements were comparable to literature on similar sutures. At 12 months follow up, all-cause failure occurred in 12% of cases, and mean scores for QuickDASH decreased by 37 and WORC increased by 44, both of which surpass the minimum clinically important difference. Our observed rates of complications are as follows: Infection 2.1%, stiffness/capsulitis 11% and retear 12%.ConclusionThe novel suture demonstrated favourable safety and efficacy profiles, with outcomes comparable to those published for commonly used sutures. This study through an IDEAL 2a framework for surgical innovation highlights this suture as safe, effective in mitigating common failure mechanisms and having satisfactory outcomes in RCR.
Behaviourally-informed two-way text messaging to improve return to HIV care in South Africa: evidence from a randomised controlled trial
Authors: Njuguna Christine , Mistri Preethi , Long Lawrence , Chetty-Makkan Candice , Maughan-Brown Brendan , Buttenheim Alison , Schmucker Laura , Pascoe Sophie , Thirumurthy Harsha , O’Connor Cara , Mutasa Barry , Rees Kate 
Published: August 2024

AbstractIntroductionOne-way text messaging to re-engage people in HIV care has shown promise, but little is known about two-way messaging where the recipient is asked to respond. We evaluated a two-way text messaging intervention, informed by behavioural science, to increase re-engagement in care following missed antiretroviral therapy (ART) visits.MethodsWe conducted an individual-level randomised controlled trial between February and March 2023 in Capricorn District, South Africa. Adults aged ≥18 years who had missed an ART visit by >28 days were randomised to (1) a standard one-way text message, or (2) behaviourally informed two-way text messages. Two-way messages asked recipients to reply by selecting from a list of reasons for their missed visit. Those who responded received another text message tailored to their response and designed using behavioural economics principles (affect heuristic, availability heuristic, loss aversion, social norms, providing slack, expanding choice). The primary outcome was return to care within 45 days, analysed as 1) intention to treat, and 2) restricted to successful message delivery.Results3,695 participants were randomised: 1,845 to the one-way message group and 1,850 to the two-way message group. 27.9% (515/1845) of participants sent a one-way message and 27.2% (503/1850) sent a two-way message returned for an ART visit within 45 days (proportion difference:−0.7%, p-value: 0.622). In an analysis restricted to participants whose text message was delivered, 28.3% (310/1094) in the one-way message group compared to 28.3% (304/1076) in the two-way message group returned to care (proportion difference:−0.09%, p-value: 0.966). 19.5% (210/1076) responded to the two-way message. The two most commonly reported reasons for missed appointments were being out of town (41.0%) and still having medication (31.0%.). Among those who responded, 27.1% (95%CI: 21.3-33.7) returned for an ART visit. Clients ≥50 years were less likely to respond to the two-way text message, (AOR 0.4; 95%CI: 0.2-0.9)ConclusionsBehaviourally informed two-way text messages did not improve return to care over one-way messages. However, they elicited reasons for disengagement, which could inform future outreach for missed visits. Additional research is needed on the mode, content and timing of two-way messages intended to increase return to care.Clinical Trial NumberPACTR202202748760768 & DOH-27-042022-6703.
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
Authors: Low K.J. , Foreman J. , Hobson R.J. , Kwuo H. , Martinez-Cayuelas E. , Almoguera B. , Marin-Reina P. , Caraffi S.G. , Garavelli L. , Woods E. , Balasubramanian M. , Bayat A. , Ockeloen C.W. , Wright C.M. , Firth H.V. , Cole T.J. 
Published: August 2024

IntroductionChildren with monogenic neurodevelopmental disorders often grow abnormally. Gene-specific growth charts would be useful but require large samples to construct them using the conventional LMS method.MethodsWe transformed anthropometry to British 1990 reference z-scores for 328 UK and 264 international probands withANKRD11, ARID1B, ASXL3, DDX3X, KMT2AorSATB2-related disorders, and modelled mean and standard deviation (SD) of the z-scores as gene-specific linear age trends adjusted for sex. Back-transforming the mean ±2 SD lines provided gene-specific median, 2ndand 98thcentiles.ResultsThe resulting z-score charts look plausible on several counts. OnlyKMT2Ashows a (rising) age trend in median height, while BMI and weight increase in several genes, possibly reflecting population trends. Apart fromSATB2andDDX3X,the gene-specific medians are all below the reference (range 0.1thcentile for heightKMT2Ato 36thcentile for BMIANKRD11). Median OFC shows no age trend, with medians ranging from 10th-30thcentile, andASXL3lowest, on the 3rdcentile. There are no sex differences in 19/24 cases.ConclusionsOur LMSz method produces gene-specific growth charts for rare diseases, an essential clinical tool for paediatric care. We plan to automate it within the DECIPHER platform, enabling availability for all relevant genes.
Endogenous adenine is a potential driver of the cardiovascular-kidney-metabolic syndrome
Authors: Tamayo Ian , Lee Hak Joo , Aslam M. Imran , Liu Jian-Jun , Ragi Nagarjunachary , Karanam Varsha , Maity Soumya , Saliba Afaf , Treviño Esmeralda , Zheng Huili , Lim Su Chi , Lanzer Jan D. , Bjornstad Petter , Tuttle Katherine , Bedi Kenneth C. , Margulies Kenneth B. , Ramachandran Vasan , Abdel-Latif Ahmed , Saez-Rodriguez Julio , Iyengar Ravi , Bopassa Jean C. , Sharma Kumar 
Published: August 2024

AbstractMechanisms underlying the cardiovascular-kidney-metabolic (CKM) syndrome are unknown, although key small molecule metabolites may be involved. Bulk and spatial metabolomics identified adenine to be upregulated and specifically enriched in coronary blood vessels in hearts from patients with diabetes and left ventricular hypertrophy. Single nucleus gene expression studies revealed that endothelial methylthioadenosine phosphorylase (MTAP) was increased in human hearts with hypertrophic cardiomyopathy. The urine adenine/creatinine ratio in patients was predictive of incident heart failure with preserved ejection fraction. Heart adenine and MTAP gene expression was increased in a 2-hit mouse model of hypertrophic heart disease and in a model of diastolic dysfunction with diabetes. Inhibition of MTAP blocked adenine accumulation in the heart, restored heart dysfunction in mice with type 2 diabetes and prevented ischemic heart damage in a rat model of myocardial infarction. Mechanistically, adenine-induced impaired mitophagy was reversed by reduction of mTOR. These studies indicate that endogenous adenine is in a causal pathway for heart failure and ischemic heart disease in the context of CKM syndrome.
Deciphering ofGorilla gorilla gorillaImmunoglobulin Loci in Multiple Genome Assemblies and Enrichment of IMGT Resources
Authors: Debbagh Chahrazed , Folch Géraldine , Jabado-Michaloud Joumana , Giudicelli Véronique , Kossida Sofia 
Published: August 2024

AbstractThrough the analysis of immunoglobulin genes at the IGH, IGK, and IGL loci from fourGorilla gorilla gorillagenome assemblies, IMGT®provides an in-depth overview of these loci and their individual variations in a species closely related to humans. The similarity between gorilla and human IG gene organization allowed the assignment of gorilla IG gene names based on their human counterparts. This study revealed significant findings, including variability in the IGH locus, the presence of known and new copy number variations (CNVs), and the accurate estimation of IGHG genes. The IGK locus displayed remarkable homogeneity and lacked the gene duplication seen in humans, while the IGL locus showed a previously unconfirmed CNV in the J-C cluster. The curated data from these analyses, available on the IMGT website, enhance our understanding of gorilla immunogenetics and provide valuable insights into primate evolution.