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Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis

Secondary hyperparathyroidism, weight loss, and longer term mortality in haemodialysis patients : results from the DOPPS

Background: Wasting is a common complication of kidney failure that leads to weight loss and poor outcomes. Recent experimental data identified parathyroid hormone (PTH) as a driver of adipose tissue browning and wasting, but little is known about the relations among secondary hyperparathyroidism, weight loss, and risk of mortality in dialysis patients. Methods: We included 42,319 chronic in-centr

Ambulance clinicians’ understanding of older patients’ self-determination: A vignette study

BackgroundOlder patients are often vulnerable and highly dependent on healthcare professionals’ assessment in the event of acute illness. In the context of ambulance services, this poses challenges as the assessment is normally conducted with a focus on identifying life-threatening conditions. Such assessment is not fully satisfactory in a patient relationship that also aims to promote and protect

The five self-harm behavior groupings measure : empirical and thematic data from a novel comprehensive self-harm assessment

INTRODUCTION: The Five Self-Harm Behavior Groupings Measure (5S-HM) is a novel assessment that evaluates behaviours which may go undetected by existing measures. Self-harm is formulated across directness and lethality spectra, including under-studied behaviors such as indirect self-harm, harmful self-neglect and sexual self-harm. Aims of the study were to: (1) empirically evaluate the 5S-HM; (2) t

Does a good story prompt visit intention? Evidence from the augmented reality experience at a heritage site in China

The emergence of digital technology has led researchers, businesses, and entrepreneurs to reflect more on the potential value that Augmented Reality (AR) can play in tourism. Although the relationship between authenticity and travel intention has been examined previously, little is known about how authenticity influences tourist travel intention after an AR experience. To fill this research gap, t

Exposure to per- and polyfluoroalkyl substances in early pregnancy and risk of cerebral palsy in children

BACKGROUND: Most cerebral palsy (CP) cases have an unexplained etiology, but a role for environmental exposures has been suggested. One purported environmental risk factor is exposure to endocrine-disrupting pollutants specifically per- and polyfluoroalkyl substances (PFAS).OBJECTIVES: We investigated the association between prenatal PFAS exposures and CP in Swedish children.METHODS: In this case-

Radial Neck Fractures in Children and Adolescents : An Examination of Operative and Nonoperative Treatment and Outcomes

BACKGROUND: Although most pediatric radial neck fractures can be treated with either immobilization alone or closed reduction and immobilization, a small subset result in permanent loss of motion despite surgical management. We sought to characterize the most problematic fractures and correlate final outcomes with both presenting fracture characteristics and the reduction achieved through surgical

Long-term outcomes and prognostic factors for survival of patients with ANCA-associated vasculitis

Background: Despite newer treatments with immunosuppressive agents, there still exists a considerable morbidity and mortality risk among patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Since 1994 the European Vasculitis Society (EUVAS) has aimed for an improved outcome for patients with AAV, conducting several prospective randomized controlled trials (RCTs).

Risk of prostate cancer death after radical radiotherapy with neoadjuvant and adjuvant therapy with bicalutamide or gonadotropin-releasing hormone agonists

BACKGROUND: Oncological outcome after radical radiotherapy (RRT) combined with neoadjuvant and adjuvant androgen suppression therapy (AST) may differ according to type of AST. The aim of this nationwide register-based study was to investigate risk of prostate cancer (Pca) death after different neoadjuvant and adjuvant ASTs; (i) bicalutamide, (ii) gonadotropin-releasing hormone agonists (GnRH) or (

Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B.

Background Fidanacogene elaparvovec, an adeno-associated virus (AAV) gene-therapy vector for hemophilia B containing a high-activity human factor IX variant (FIX-R338L/FIX-Padua), was associated with sustained factor IX activity in a phase 1-2a study. Methods We conducted a phase 3 open-label study of fidanacogene elaparvovec at a dose of 5×1011 vector genome copies per kilogram of body weight. Me

Percutaneous vs. surgical revascularization of non-ST-segment elevation myocardial infarction with multivessel disease : the SWEDEHEART registry

Background and Aims The long-term outcomes of percutaneous coronary intervention (PCI) vs. coronary artery bypass grafting (CABG) in patients with non-ST-segment elevation myocardial infarction (NSTEMI) and multivessel disease remain debated. Methods The Swedish Web-system for Enhancement and Development of Evidence-based care in Heart disease Evaluated According to Recommended Therapies registry

Patient characteristics in relation to opioid exposure in a chronic non-cancer pain population

OBJECTIVES: The efficacy of long-term opioid therapy (LTOT) in treating patients with chronic non-cancer pain (CnCP) is questionable, and the potential risks of adverse effects are well established. The aims were as follows: (1) compare characteristics in patients exposed to LTOT vs non-exposed. (2) Regarding opioid-exposed patients, describe characteristics of patients with risk factors for opioi

Desmoplastic melanoma in Sweden in 2009–2022 : A population-based registry study demonstrating distinctive tumour characteristics, incidence and survival trends

Background: Desmoplastic melanoma (DM) is a rare subtype, accounting for less than 5% of primary cutaneous invasive melanomas. DM often arises in chronically sun-exposed skin, in older individuals. While the incidence of cutaneous melanoma has increased globally, trends specific to DM are less documented and studies on survival outcomes for DM are inconsistent. Objectives: To study patient and tum

Profiling associations of interactive ligand-receptors (HLA class I and KIR gene products) with the progression to type 1 diabetes among seroconverted participants

AIMS/HYPOTHESIS: The aim of this work was to explore associations between type 1 diabetes progression from stages 1 or 2 to stage 3 and interacting ligand-receptor complexes of HLA class I (HLA-I) and KIR gene products.METHODS: Applying next-generation sequencing technology to genotype HLA-I genes (HLA-A, -B, -C) and KIR genes (KIR2DL1, KIR2DL2, KIR2DL3, KIR2DL4, KIR2DL5, KIR2DS1, KIR2DS2, KIR2DS3

Every 1,000 steps matter : incremental reductions in metabolic syndrome risk in Japanese office workers

Background: Several studies have investigated the association between metabolic syndrome (MetS) and physical activity (PA). However, further research is needed using objective measures of PA in free-living conditions, while also accounting for the time-variant nature of MetS. This study aimed to: (1) investigate the association between wearable device-measured step count and 5-year MetS incidence

Does Collaboration between General Practitioners and Pharmacists Improve Risk Factors for Cardiovascular Disease and Diabetes? A Systematic Review and Meta-Analysis

Objective: To assess whether inter-professional, bidirectional collaboration between general practitioners (GPs) and pharmacists has an impact on improving cardiovascular risk outcomes among patients in the primary care setting. It also aimed to understand the different types of collaborative care models used. Study design: Systematic review and Hartung-Knapp-Sidik-Jonkman random effects meta-anal

Evolution of resident bird breeding phenology in a landscape with heterogeneous resource phenology and carryover effects

It is generally expected that, in environments with pronounced seasonal resource peaks, birds’ reproductive success will be maximised when nestlings’ peak food demand coincides with the timing of high food availability. However in certain birds that stay resident over winter, earlier breeding leads juveniles to join the winter flock earlier, which by the prior residence effect increases their succ

Body mass index is negatively associated with telomere length : A collaborative cross-sectional meta-analysis of 87 observational studies

Background: Even before the onset of age-related diseases, obesity might be a contributing factor to the cumulative burden of oxidative stress and chronic inflammation throughout the life course. Obesity may therefore contribute to accelerated shortening of telomeres. Consequently, obese persons are more likely to have shorter telomeres, but the association between body mass index (BMI) and leukoc

Repeated Parental Singing During Kangaroo Care Improved Neural Processing of Speech Sound Changes in Preterm Infants at Term Age

Preterm birth carries a risk for adverse neurodevelopment. Cognitive dysfunctions, such as language disorders may manifest as atypical sound discrimination already in early infancy. As infant-directed singing has been shown to enhance language acquisition in infants, we examined whether parental singing during skin-to-skin care (kangaroo care) improves speech sound discrimination in preterm infant