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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

Tapering of prescribed opioids in patients with long-term non-malignant pain (TOPIO)-efficacy and effects on pain, pain cognitions, and quality of life : a study protocol for a randomized controlled clinical trial with a 12-month follow-up

BACKGROUND: Opioids are still widely prescribed to long-term pain patients although they are no longer recommended for long-term treatments due to poor evidence for long-term efficacy, risks of serious side effects, and the possibility of inducing opioid hyperalgesia. In a Cochrane study from 2017, the authors identified an urgent need for more randomized controlled trials investigating the effici

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

BACKGROUND: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. METHODS: We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, t

Development of MRI-defined structural tissue damage after anterior cruciate ligament injury over 5 Years : The KANON Study

Background: MRI is used to evaluate structural joint changes after anterior cruciate ligament (ACL) injury, but no long-term data are available for comparing different treatment approaches. Purpose: To describe structural joint damage with MRI over a 5-year period in the Knee Anterior Cruciate Ligament, Nonsurgical versus Surgical Treatment (KANON) study and to compare frequencies of such tissue d

Perspectives on a Way Forward to Implementation of Precision Medicine in Patients With Diabetic Kidney Disease; Results of a Stakeholder Consensus-Building Meeting

Aim: This study aimed to identify from different stakeholders the benefits and obstacles of implementing precision medicine in diabetic kidney disease (DKD) and to build consensus about a way forward in order to treat, prevent, or even reverse this disease. Methods: As part of an ongoing effort of moving implementation of precision medicine in DKD forward, a two-day consensus-building meeting was

Epidemiology and Prognostic Factors in Acute Lower Limb Ischaemia : A Population Based Study

Objective: The aim of this study was to evaluate the contemporary population based incidence of acute lower limb ischaemia (ALI) and factors associated with major amputation/death at one year. Methods: In this retrospective observational study, in hospital, operation, radiological, and autopsy registries were scrutinised to capture 161 citizens of Malmö, Sweden, with ALI between 2015 and 2018. Age

Acceptance of COVID-19 Vaccine Booster Doses Using the Health Belief Model : A Cross-Sectional Study in Low-Middle- and High-Income Countries of the East Mediterranean Region

Coronavirus disease (COVID-19) booster doses decrease infection transmission and disease severity. This study aimed to assess the acceptance of COVID-19 vaccine booster doses in low, middle, and high-income countries of the East Mediterranean Region (EMR) and its determinants using the health belief model (HBM). In addition, we aimed to identify the causes of booster dose rejection and the main so

Short- and long-term effects of tactile massage on salivary cortisol concentrations in Parkinson's disease : a randomised controlled pilot study

BACKGROUND: Parkinson's disease (PD) is a chronic neurodegenerative disorder with limited knowledge about the normal function and effects of non-pharmacological therapies on the hypothalamic-pituitary-adrenal (HPA) axis. The aim of the study was to analyse the basal diurnal and total secretion of salivary cortisol in short- and long-term aspects of tactile massage (TM).DESIGN: Prospective, Control

Evaluating the development of endometriosis and adenomyosis lesions over time: an ultrasound study of symptomatic women

IntroductionThere is a gap in knowledge regarding development of endometriosis and adenomyosis lesions visible at transvaginal ultrasound. The objectives were to evaluate if women with symptoms suggestive of endometriosis or adenomyosis but normal ultrasound examination develop endometriosis or adenomyosis lesions visible at ultrasound over time and if alterations of symptoms over time are associa

Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential as

Type 2 diabetes exacerbates changes in blood pressure-independent arterial stiffness : cross-sectional and longitudinal evidence from the SUMMIT study

Greater central artery stiffness is observed in people with type 2 diabetes (T2DM). Elevated blood pressure (BP) and altered arterial wall structure/composition in T2DM are generally considered as main drivers for this alteration. However, because conventional arterial stiffness measures are BP-dependent and as such an influence of BP remains in a measure, it is unclear if greater central artery s

HLA Class II (DR, DQ, DP) Genes Were Separately Associated With the Progression From Seroconversion to Onset of Type 1 Diabetes Among Participants in Two Diabetes Prevention Trials (DPT-1 and TN07)

OBJECTIVE: To explore associations of HLA class II genes (HLAII) with the progression of islet autoimmunity from asymptomatic to symptomatic type 1 diabetes (T1D).RESEARCH DESIGN AND METHODS: Next-generation targeted sequencing was used to genotype eight HLAII genes (DQA1, DQB1, DRB1, DRB3, DRB4, DRB5, DPA1, DPB1) in 1,216 participants from the Diabetes Prevention Trial-1 and Randomized Diabetes P

LAMC2 as a prognostic biomarker in human cancer : a systematic review and meta-analysis

Objectives Accumulating evidence suggested that the laminin Î 32 (LAMC2) expression level was upregulated in various cancers. However, the potential prognostic value of LAMC2 in cancers remains unclear. We conducted a meta-analysis to clarify the association of LAMC2 expression with prognosis. Design We searched Embase, Web of Science and PubMed (up to 25 November 2021) to collect all eligible stu

Beam control system and output fine-tuning for safe and precise delivery of FLASH radiotherapy at a clinical linear accelerator

Introduction: We have previously adapted a clinical linear accelerator (Elekta Precise, Elekta AB) for ultra-high dose rate (UHDR) electron delivery. To enhance reliability in future clinical FLASH radiotherapy trials, the aim of this study was to introduce and evaluate an upgraded beam control system and beam tuning process for safe and precise UHDR delivery. Materials and Methods: The beam contr

Pediatric head injury guideline use in Sweden : a cross-sectional survey on determinants for successful implementation of a clinical practice guideline

Background: The Scandinavian Neurotrauma Committee guideline (SNC-16) was developed and published in 2016, to aid clinicians in management of pediatric head injuries in Scandinavian emergency departments (ED). The objective of this study was to explore determinants for use of the SNC-16 guideline by Swedish ED physicians. Methods: This is a nationwide, cross-sectional, web-based survey in Sweden.

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

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).