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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

Left ventricular global wall thickness is easily calculated, detects and characterizes hypertrophy, and has prognostic utility

BACKGROUND: Cardiovascular magnetic resonance (CMR) can be used to measure left ventricular end-diastolic volume (LVEDV) and left ventricular mass (LVM). However, there is currently no good way to measure the normality of LVM in relation to a given LVEDV. We hypothesized that a simple measure of left ventricular global wall thickness (GWT) would be accurate, beneficial for detecting and characteri

Bone size and volumetric density in women with anorexia nervosa receiving estrogen replacement therapy and in women recovered from anorexia nervosa

Anorexia nervosa is associated with bone loss during adulthood, but may also delay skeletal growth and mineral accrual during growth. We asked the following questions. 1) Is anorexia nervosa associated with reduced bone size and reduced volumetric bone mineral density (vBMD)? 2) Is estrogen replacement therapy (ERT) or recovery from anorexia nervosa associated with normal bone size and vBMD? Using

Midlife Atherosclerosis and Development of Alzheimer or Vascular Dementia

Objective: To investigate whether midlife atherosclerosis is associated with different dementia subtypes and related underlying pathologies. Methods: Participants comprised the cardiovascular cohort of the Swedish prospective population-based Malmö Diet and Cancer Study (N = 6,103). Carotid plaques and intima media thickness (IMT) were measured at baseline (1991–1994). Dementia incidence until 201

Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY : Lessons From a 5-Year Pediatric Swedish National Cohort Study

OBJECTIVE: Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory clinical features at diabetes diagnosis of patients with glucokinase (GCK), hepatocyte nuclear factor-1A (HNF1A), and HNF4A MODY in the pediatric population.RESEARCH D

Diffusion tensor MRI to distinguish progressive supranuclear palsy from a-synucleinopathies

Background: The differential diagnosis of progressive supranuclear palsy (PSP) and Lewy body disorders, which include Parkinson disease and dementia with Lewy bodies, is often challenging due to the overlapping symptoms. Purpose: To develop a diagnostic tool based on diffusion tensor imaging (DTI) to distinguish between PSP and Lewy body disorders at the individual-subject level. Materials and Met

Paving the way for transparency : How eHealth technology can change boundaries in healthcare

Den digitalisering som för närvarande äger rum inom hälso- och sjukvårdssektorn ställer både nya krav och öppnar för nya möjligheter för enskilda medborgare, vårdpersonal samt olika aktörer i samhället. I många av de e-hälsolösningar som utvecklas finns bakomliggande tankar om ökad egenmakt (empowerment) för patienten genom att denne skall få ökad kontroll över sin egen hälsa och den information sThe digitalization that currently is taking place in healthcare raises questions about how this development, with visions of more patient participation and patient empowerment, changes this sector and what role eHealth can play in these changes. The term civic health technologies (Invånartjänster) is used in Sweden to describe eHealth in the healthcare sector that is developed and deployed by the

Pregnancy outcome in women with gestational diabetes – A longitudinal study of changes in demography and treatment modalities

Introduction: Gestational diabetes is on the rise and demographics are changing in many countries due to increased migration. Simultaneously, the treatment of gestational diabetes in our clinic has shifted towards metformin with substantially less insulin treatment. The aim was to study the impact of these changes on metabolic control and pregnancy outcome by comparing women diagnosed with gestati

Elevated plasma copeptin levels identify the presence and severity of non-alcoholic fatty liver disease in obesity

Introduction: Copeptin is the stable surrogate marker of vasopressin (VP), which is released in response to elevated plasma osmolality or low blood pressure. Elevated plasma copeptin levels are associated with higher risk of insulin resistance-related disorders, such as type 2 diabetes (T2DM), metabolic syndrome (MS), and cardiovascular disease, and experimental reduction of circulating VP levels

Effect of liraglutide on anthropometric measurements, sagittal abdominal diameter and adiponectin levels in people with type 2 diabetes treated with multiple daily insulin injections: evaluations from a randomized trial (MDI-liraglutide study 5).

AIM: Use of the glucagon-like peptide 1 receptor agonist liraglutide has been shown to reduce weight. Different types of anthropometric measurements can be used to measure adiposity. This study evaluated the effect of liraglutide on sagittal abdominal diameter, waist circumference, waist-to-hip ratio and adiponectin levels in people with type 2 diabetes (T2D) treated with multiple daily insulin in

Contributions to Preventive Measures in Cyber Security

Organizations and individuals maintain and use an ever increasing amount of computer systems, either deployed locally, or in the cloud.These systems often store and handle vast amounts of data, some of which is sensitive and should be kept private.Regardless of where the data is located, there is a need to prevent data from falling into the wrong hands.To this end, this dissertation presents contr

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

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 sarcopenia index measured using the lumbar paraspinal muscle is associated with prognosis in endometrial cancer

Objective: The number of type-II endometrial cancer patients has been increasing and the prognosis is not favorable. We aim to investigate whether sarcopenia index in any of several different muscles could serve as a novel biomarker of prognosis in patients with type-II endometrial cancer. Methods: We retrospectively investigated a total of 194 patients at four hospitals. Ninety patients were trea

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

Mini-symposium: Powered mobility : Facilitating participation in children with Spinal Muscular Atrophy (SMA) type 1. Ready for the Race?

OBJECTIVESThe symposium will provide the know-how about powered mobility use in children with Spinal Muscular Atrophy Type I. Define what are the barriers of their mobility and how powered mobility can facilitate participation and social interaction. Disseminate the importance of family involvement in early powered mobility through the use of adapted motorized devices supporting development of fun

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