bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: First-in-human combined low-dose whole-heart irradiation and high-dose stereotactic arrhythmia radioablation for immunosuppressive refractory cardiac sarcoidosis and ventricular tachycardia
Authors: van der Ree Martijn H. , Herrera Siklody Claudia , Le Bloa Mathieu , Pascale Patrizio , Porretta Alessandra P. , Teres Cheryl C. , Solana Munoz Jorge , Luca Adrian , Domenichini Giulia , Ozasahin Mahmut , Jumeau Raphael , Postema Pieter G. , Ribi Camillo , Bourhis Jean , Schiappacasse Luis , Pruvot Etienne 
Published: July 2023

BackgroundCardiac sarcoidosis is associated with heart failure, conduction abnormalities, and life-threatening arrhythmias including ventricular tachycardia (VT). Radiotherapy has been suggested as a treatment for extra-cardiac sarcoidosis in patients refractory to immunomodulatory treatment.MethodsThe effectiveness and safety of low-dose whole-heart radiotherapy for therapy refractory cardiac sarcoidosis were evaluated in a pre- and post-intervention case report comparing the 54 months before and after treatment. Immunomodulatory low-dose whole-heart irradiation as sarcoidosis treatment consisted of a 2 × 2 Gy scheme. Additionally, high-dose single-fraction stereotactic arrhythmia radioablation of 1 × 20 Gy was applied to the pro-arrhythmic region to manage the ventricular tachycardia episodes. Cardiac sarcoidosis disease activity was measured by hypermetabolic areas on repeated fluorodeoxyglucose ([18F]FDG)-PET/computed tomography (CT) scans and by evaluating changes in ventricular tachycardia episodes before and after treatment.ResultsOne patient with therapy refractory progressive cardiac sarcoidosis and recurrent ventricular tachycardia was treated. The cardiac sarcoidosis disease activity showed a durable regression of inflammatory disease activity from 3 months onwards. The [18F]FDG-PET/CT scan at 54 months did not show any signs of active cardiac sarcoidosis, and a state of remission was achieved. The number of sustained VT episodes was reduced by 95%. We observed that the development of moderate aortic valve regurgitation was likely irradiation-related. No other irradiation-related adverse events occurred, and the left ventricular ejection fraction remained stable.ConclusionWe report here for the first time on the beneficial and lasting effects of combined immunomodulatory low-dose whole-heart radiotherapy and high-dose stereotactic arrhythmia radioablation in a patient with therapy refractory cardiac sarcoidosis and recurrent VT.
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
Authors: van Abswoude Denise H. , Pellikaan Karlijn , Nguyen Naomi , Rosenberg Anna G. W. , Davidse Kirsten , Hoekstra Franciska M. E. , Rood Ilse M. , Poitou Christine , Grugni Graziano , Høybye Charlotte , Markovic Tania P. , Caixàs Assumpta , Crinò Antonino , van den Berg Sjoerd A. A. , van der Lely Aart J. , de Graaff Laura C. G. 
Published: July 2023

BackgroundPrader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and type 2 diabetes mellitus (DM2), known risk factors for cardiovascular disease (CVD) and chronic kidney disease (CKD). Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. Furthermore, kidney diseases are often asymptomatic. Therefore, renal and cardiovascular disease might be missed in patients with PWS. Microalbuminuria is an early sign of microvascular damage in the kidneys and other vascular beds. Therefore, we screened our adult PWS cohort for the presence of elevated urinary albumin and (micro)albuminuria.MethodsWe retrospectively collected anthropometric measurements, blood pressure, medical history, medication use, urine dipstick and biochemical measurements form electronic patient files. In addition, we performed a systematic literature review on kidney disease in PWS.ResultsWe included 162 adults with genetically confirmed PWS (56% male, median age 28 years), of whom 44 (27%) had DM2. None had known CVD. All subjects had normal estimated glomerular filtration rate (eGFR) according to non-PWS reference intervals. Elevated urinary albumin or (micro)albuminuria was present in 28 (18%); 19 out of 75 (25%) had an increased urinary albumin-to-creatinine ratio (UACR) and 10 out of 57 (18%) had an increased urinary protein-to-creatinine ratio. Elevated urinary albumin was present at a young age (median age 26 (IQR 24-32) years) and was associated with an significantly higher BMI and LDL-cholesterol levels and higher prevalence of DM2, hypertension and dyslipidemia than those with normal UACR (p=0.027, p=0.019, p&lt;0.001, p&lt;0.001, p=0.011 and respectively).ConclusionUpon screening, one in every five adults with PWS had increased urinary albumin or (micro)albuminuria, early signs of microvascular disease. All had normal eGFR, according to non-PWS reference intervals, and none had a formal diagnosis of CVD. As muscle mass is low in PWS, creatinine levels and eGFR may be spuriously normal. Urinalysis in this patient group can be used as a screening tool for microvascular (kidney) disease. We propose an algorithm for the detection and management of microvascular disease in adults with PWS.
Physical activity and reduced risk of fracture in thyroid cancer patients after thyroidectomy — a nationwide cohort study
Authors: Kim Jinyoung , Han Kyungdo , Jung Jin-Hyung , Ha Jeonghoon , Jeong Chaiho , Heu Jun-Young , Lee Se-Won , Lee Jeongmin , Lim Yejee , Kim Mee Kyoung , Kwon Hyuk-Sang , Song Ki-Ho , Baek Ki-Hyun 
Published: July 2023

ObjectivesLevothyroxine suppressive therapy following thyroidectomy for thyroid cancer patients is considered as a risk factor for osteoporosis and fragility fractures. We evaluated the association of regular exercise and exercise habit change with fracture risk in adults older than 40 years who underwent thyroidectomy for thyroid cancer.MethodsWe enrolled the patients who underwent thyroidectomy for thyroid cancer older than 40 years between 2010 and 2016 from the Korean National Health Insurance Service data, and they were followed through 2019. Based on the questionnaire of health examination within 2 years before and after surgery, whether regular exercise once a week was evaluated. The reference group for the statistical analysis was the continuing lack of physical activity group that did not exercise before or after surgery. For fractures newly diagnosed during the follow-up period, univariate and multivariate Cox regression analyses were performed for risk evaluation.ResultsWe evaluated 74,774 subjects, of whom 2,924 (3.9%) experienced any fractures during a median follow-up of 4.5 years. Compared with the group consistently lack of physical activity, the group that exercised before and after surgery showed a significant decrease in the risk of any fracture, vertebral fracture, and hip fracture: adjusted hazard ratio 0.848 (95% Confidence Interval 0.771–0.932), 0.703 (0.591–0.836), and 0.405 (0.224–0.732), respectively. For vertebral fracture, a significant reduction in fracture risk was confirmed even in patients who started their regular exercise after surgery: adjusted hazard ratio 0.779 (0.648–0.936). The risk reduction for vertebral fractures upon the initiation of exercise was found to be significant in the high-risk groups of patients: women and total thyroidectomy patients.ConclusionWe suggest that maintaining or starting regular exercise after surgery may help prevent fractures in thyroid cancer patients older than 40 years who have undergone thyroidectomy.
Missingness adapted group informed clustered (MAGIC)-LASSO: a novel paradigm for phenotype prediction to improve power for genetic loci discovery
Authors: Gentry Amanda Elswick , Kirkpatrick Robert M. , Peterson Roseann E. , Webb Bradley T. 
Published: July 2023

Introduction: The availability of large-scale biobanks linking genetic data, rich phenotypes, and biological measures is a powerful opportunity for scientific discovery. However, real-world collections frequently have extensive missingness. While missing data prediction is possible, performance is significantly impaired by block-wise missingness inherent to many biobanks.Methods: To address this, we developed Missingness Adapted Group-wise Informed Clustered (MAGIC)-LASSO which performs hierarchical clustering of variables based on missingness followed by sequential Group LASSO within clusters. Variables are pre-filtered for missingness and balance between training and target sets with final models built using stepwise inclusion of features ranked by completeness. This research has been conducted using the UK Biobank (n &gt; 500 k) to predict unmeasured Alcohol Use Disorders Identification Test (AUDIT) scores.Results: The phenotypic correlation between measured and predicted total score was 0.67 while genetic correlations between independent subjects was high &gt;0.86.Discussion: Phenotypic and genetic correlations in real data application, as well as simulations, demonstrate the method has significant accuracy and utility for increasing power for genetic loci discovery.
Women's preferences for a new contraceptive under development: an exploratory study
Authors: Madden Tessa , Cohen Sarah Y. , Paul Rachel , Hurley Emily G. , Thomas Michael A. , Pauletti Giovanni 
Published: July 2023

ObjectiveCurrently available contraceptive methods do not meet the needs of all users. We sought to explore preferences of potential end-users regarding an on-demand, non-hormonal female contraceptive currently under development, using a web-based survey.Study designWe recruited respondents for an exploratory survey via web link on Amazon Mechanical Turk (MTurk). Individuals were eligible if they were 18–44 years of age, identified as cis-gender female, were English-speaking, not pregnant, and had used barrier contraception previously. Respondents provided demographic characteristics and a basic reproductive history. We then provided a brief description of the potential contraceptive. Respondents were asked about their interest in the proposed contraceptive and preferences for method attributes.ResultsA total of 500 respondents completed the survey. Three-quarters of respondents were &lt;35 years of age and 48.2% were currently using a barrier contraceptive method. Three-fourths of respondents (73.8%) expressed interest in using the contraceptive under development. The majority wanted the method to be small (≤2 inches), rod-shaped, and low cost (&lt;$5 per use). More than half (59.4%) said it was important to be able to use the method without partners’ knowledge. The most reported potential concerns were vaginal irritation (51.6%) and lack of effectiveness (46.4%). Sixty percent of respondents were confident they could use the method correctly.DiscussionAvailable contraceptive methods lack attributes preferred by some users. Development of new contraceptives frequently does not involve end-user input early in the development process. Individuals in this sample displayed interest in the proposed contraceptive and expressed preferences that can inform the further development of this method.
Bulbar involvement and cognitive features in amyotrophic lateral sclerosis: a retrospective study on 347 patients
Authors: Aiello Edoardo Nicolò , Solca Federica , Torre Silvia , Patisso Valerio , De Lorenzo Alberto , Treddenti Mauro , Colombo Eleonora , Maranzano Alessio , Morelli Claudia , Doretti Alberto , Verde Federico , Silani Vincenzo , Ticozzi Nicola , Poletti Barbara 
Published: July 2023

BackgroundThis study aimed at clarifying the role of bulbar involvement (BI) as a risk factor for cognitive impairment (CI) in non-demented amyotrophic lateral sclerosis (ALS) patients.MethodsData on N = 347 patients were retrospectively collected. Cognition was assessed via the Edinburgh Cognitive and Behavioral ALS Screen (ECAS). On the basis of clinical records and ALS Functional Rating Scale-Revised (ALSFRS-R) scores, BI was characterized as follows: (1) BI at onset—from medical history; (2) BI at testing (an ALSFRS-R-Bulbar score ≤11); (3) dysarthria (a score ≤3 on item 1 of the ALSFRS-R); (4) severity of BI (the total score on the ALSFRS-R-Bulbar); and (5) progression rate of BI (computed as 12-ALSFRS-R-Bulbar/disease duration in months). Logistic regressions were run to predict a below- vs. above-cutoff performance on each ECAS measure based on BI-related features while accounting for sex, disease duration, severity and progression rate of respiratory and spinal involvement and ECAS response modality.ResultsNo predictors yielded significance either on the ECAS-Total and -ALS-non-specific or on ECAS-Language/-Fluency or -Visuospatial subscales. BI at testing predicted a higher probability of an abnormal performance on the ECAS-ALS-specific (p = 0.035) and ECAS-Executive Functioning (p = 0.018). Lower ALSFRS-R-Bulbar scores were associated with a defective performance on the ECAS-Memory (p = 0.025). No other BI-related features affected other ECAS performances.DiscussionIn ALS, the occurrence of BI itself, while neither its specific features nor its presence at onset, might selectively represent a risk factor for executive impairment, whilst its severity might be associated with memory deficits.
The effects of FTO gene rs9939609 polymorphism on the association between colorectal cancer and dietary intake
Authors: Gholamalizadeh Maryam , Jonoush Mona , Mobarakeh Khadijeh Abbasi , Amjadi Arezoo , Alami Farkhondeh , Valisoltani Neda , Askarpour Seyed Ali , Azizi-Tabesh Ghasem , Mohammadian Mohammad Keshavarz , Akbari Mohammad Esmail , Rajabibazl Masoumeh , Alemrajabi Mahdi , Poodineh Jafar , Sadeghi Hossein , Hosseinzadeh Payam , Dahka Samaneh Mirzaei , Badeli Mostafa , Jarrahi Seyed Alireza Mosavi , Doaei Saeid 
Published: July 2023

BackgroundFTO gene is associated with obesity, dietary intake, and the risk of colorectal cancer (CRC). In this study, patients with colorectal cancer were assessed for the interactions between FTO gene polymorphisms and dietary intake.MethodsThis case–control study was carried out on 450 participants aged 35–70 years including 150 patients with colorectal cancer and 300 healthy controls. Blood samples were collected in order to extract DNA and genotyping of FTO gene for rs9939609 polymorphism. A validated 168-item food frequency questionnaire (FFQ) and the Nutritionist-IV software were used to assess dietary intake.ResultsIn the participants with the TT genotype of FTO rs9939609 polymorphism, CRC risk was significantly associated with higher intake of dietary fat (OR:1.87 CI95%:1.76–1.99, p = 0.04), vitamin B3 (OR:1.20 CI95%:1.08–1.65, p = 0.04), and vitamin C (OR:1.06 CI95%:1.03–1.15, p = 0.04) and lower intake of β-carotene (OR:0.98 CI95%:0.97–0.99, p = 0.03), vitamin E (OR:0.77 CI95%:0.62–0.95, p = 0.02), vitamin B1 (OR:0.15 CI95%:0.04–0.50, p &lt; 0.01), and biotin (OR:0.72 CI95%:0.0.57–0.92, p = 0.01). No significant association was found between CRC and dietary intake in carriers of AA/AT genotypes after adjustments for the confounders.ConclusionCRC risk may be decreased by β-carotene, vitamins E, B1, and biotin only in those without the risk allele of the FTO gene. The association of CRC and diet may be influenced by FTO genotype. Further studies are warranted.
Induction treatment in high-grade B-cell lymphoma with a concurrent MYC and BCL2 and/or BCL6 rearrangement: a systematic review and meta-analysis
Authors: Zeremski Vanja , Kropf Siegfried , Koehler Michael , Gebauer Niklas , McPhail Ellen D. , Habermann Thomas , Schieppati Francesca , Mougiakakos Dimitrios 
Published: July 2023

Background and aimHigh-grade B cell lymphomas with concomitant MYC and BCL2 and/or BCL6 rearrangements (HGBCL-DH/TH) have a poor prognosis when treated with the standard R-CHOP-like chemoimmunotherapy protocol. Whether this can be improved using intensified regimens is still under debate. However, due to the rarity of HGBCL-DH/TH there are no prospective, randomized controlled trials (RCT) available. Thus, with this systematic review and meta-analysis we attempted to compare survival in HGBCL-DH/TH patients receiving intensified vs. R-CHOP(-like) regimens.MethodsThe PubMed and Web of Science databases were searched for original studies reporting on first-line treatment in HGBCL-DH/TH patients from 08/2014 until 04/2022. Studies with only localized stage disease, ≤10 patients, single-arm, non-full peer-reviewed publications, and preclinical studies were excluded. The quality of literature and the risk of bias was assessed using the Methodological Index for Non-Randomized Studies (MINORS) and National Heart, Lung, and Blood Institute (NHLBI) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. Random-effect models were used to compare R-CHOP-(like) and intensified regimens regarding 2-year overall survival (2y-OS) and 2-year progression-free survival (2y-PFS).ResultsAltogether, 11 retrospective studies, but no RCT, with 891 patients were included. Only four studies were of good quality based on aforementioned criteria. Intensified treatment could improve 2y-OS (hazard ratio [HR]=0.78 [95% confidence interval [CI] 0.63-0.96]; p=0.02) as well as 2y-PFS (HR=0.66 [95% CI 0.44-0.99]; p=0.045).ConclusionsThis meta-analysis indicates that intensified regimens could possibly improve 2y-OS and 2y-PFS in HGBCL-DH/TH patients. However, the significance of these results is mainly limited by data quality, data robustness, and its retrospective nature. There is still a need for innovative controlled clinical trials in this difficult to treat patient population.Systematic review registrationhttps://www.crd.york.ac.uk/prospero, identifier CRD42022313234.
Occupational resource profiles for an addressee orientation in occupational health management: a segmentation analysis
Authors: Friedrich Julian , Münch Anne-Kristin , Thiel Ansgar , Voelter-Mahlknecht Susanne , Sudeck Gorden 
Published: July 2023

IntroductionIn order to make sustainable decisions in precision prevention and health promotion, it is important to adequately assess people's demands and resources at work. To reach them in an addressee-oriented way, a segmentation of employers and employees based on occupational resources is a promising option. We identified profiles based on personal and perceived organizational resources. Furthermore, we used job demands for profile descriptions to obtain a deeper understanding of the profiles, characterizing people with similar occupational resources.MethodsPersonal occupational resources (occupational health literacy and self-efficacy) and perceived organizational resources (job decision latitude and participation in health at work) were assessed among employers and employees (n = 828) in small- and medium-sized enterprises in Germany. Job demands, socioeconomic status, and hierarchy levels in the company were used for further profile descriptions.ResultsA six-profile solution fitted best to the data based on cluster and profile analyses. One profile was characterized by above-average occupational resources, and another profile was characterized by below-average resources. The other four profiles showed that the individual and perceived organizational resources contrasted. Either organizational resources such as job decision latitude existed and personal resources were not highly developed or people had high individual motivation but few possibilities to participate in health at work. People with medium or high job demands as well as people with low socioeconomic status were most frequently in below-average resource profiles. Employers with high hierarchy levels were overrepresented in the above-average profiles with high organizational resources.DiscussionFollowing the segmentation of the addressees, organizations might be supported in identifying needs and areas for prevention and health promotion. Interventions can be optimally developed, tailored, and coordinated through a deeper understanding of job demands and resources. Especially employees with low socioeconomic status and high job demands might profit from an addressee-orientated approach based on resource profiles. For example, employees obtain an overview of their occupational resource profile to recognize the development potential for safe and healthy behavior at work. Follow-up research should be used to examine how this feedback to employers and employees is implemented and how it affects the sustainability of tailored interventions.
Heart Transplantation in High-Risk Recipients Employing Donor Marginal Grafts Preserved With Ex-Vivo Perfusion
Authors: Sponga Sandro , Vendramin Igor , Salman Jawad , Ferrara Veronica , De Manna Nunzio Davide , Lechiancole Andrea , Warnecke Gregor , Dralov Andriy , Haverich Axel , Ius Fabio , Bortolotti Uberto , Livi Ugolino , Avsar Murat 
Published: July 2023

Extending selection criteria to face donor organ shortage in heart transplantation (HTx) may increase the risk of mortality. Ex-vivo normothermic perfusion (EVP) limits ischemic time allowing assessment of graft function. We investigated the outcome of HTx in 80 high-risk recipients transplanted with marginal donor and EVP-preserved grafts, from 2016 to 2021. The recipients median age was 57 years (range, 13–75), with chronic renal failure in 61%, impaired liver function in 11% and previous cardiac surgery in 90%; 80% were mechanically supported. Median RADIAL score was 3. Mean graft ischemic time was 118 ± 25 min, “out-of-body” time 420 ± 66 min and median cardiopulmonary bypass (CPB) time 228 min (126–416). In-hospital mortality was 11% and ≥moderate primary graft dysfunction 16%. At univariable analysis, CPB time and high central venous pressure were risk factors for mortality. Actuarial survival at 1 and 3 years was 83% ± 4%, and 72% ± 7%, with a median follow-up of 16 months (range 2–43). Recipient and donor ages, pre-HTx extracorporeal life support and intra-aortic balloon pump were risk factors for late mortality. In conclusion, the use of EVP allows extension of the graft pool by recruitment of marginal donors to successfully perform HTx even in high-risk recipients.