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Objectives: The aim of this study was to investigate genetic outcomes, analyze the family experience, and describe the process of implementing genetic sequencing for children with profound sensorineural hearing loss (SNHL) at a tertial audiological center in southern Sweden. Design: This is a prospective pilot study including eleven children with profound bilateral SNHL who underwent cochlear impl
Background: Hepatitis B virus infection is a global health problem with the highest prevalence in East Asia and Sub-Saharan Africa. The majority of infected people, including healthcare workers are unaware of their status. This study is aimed to determining seroprevalence of hepatitis B virus infection and associated factors among healthcare workers in northern Tanzania. Methods: This cross-sectio
BACKGROUND: The major risk factors for atherosclerotic cardiovascular disease differ by race or ethnicity but have largely been defined using populations of European ancestry. Despite the rising prevalence of cardiovascular disease in Africa there are few related data from African populations. Therefore, we compared the association of established cardiovascular risk factors with carotid-intima med
Background: Depression is a risk factor for type 2 diabetes (T2D) and cardiovascular disease (CVD). The aims were to explore the prevalence of depression, anxiety, antidepressant use, obesity, Hemoglobin A1c > 64 mmol/mol, life-style factors, pre-existing CVD, in patients with newly diagnosed T2D; to explore associations with depression; and to compare with Swedish general population data. Methods
IMPORTANCE Fluid overload occurring as a consequence of overly aggressive fluid resuscitation may adversely affect outcome in hemodynamically unstable critically ill patients. Therefore, following the initial fluid resuscitation, it is important to identify which patients will benefit from further fluid administration. OBJECTIVE To identify predictors of fluid responsiveness in hemodynamically uns
Lyme borreliosis (LB) is the most common vector-borne disease in the northern hemisphere, and southern Sweden is a highly endemic area. In over 70% of the cases, LB is represented by the non-disseminated cutaneous form erythema migrans (EM). This thesis has its focus on EM from a primary health care perspective in southern Sweden, including aspects on epidemiology, the clinical picture, gender dif
OBJECTIVES: the purpose of this study was to assess the predictive accuracy of conventional cardiovascular risk factors for incident heart failure and atrial fibrillation, and the added benefit of multiple biomarkers reflecting diverse pathophysiological pathways. BACKGROUND: heart failure and atrial fibrillation are interrelated cardiac diseases associated with substantial morbidity and mortality
The expression and activities of constitutive nitric oxide synthase (cNOS) and inducible nitric oxide synthase (iNOS) in relation to insulin and glucagon secretory mechanisms were investigated in islets isolated from rats subjected to total parenteral nutrition (TPN) for 10 d. TPN is known to result in significantly increased levels of plasma lipids during the infusion time. In comparison with isl
Retinitis pigmentosa is a group of inherited retinal degenerative diseases characterized by the loss of photoreceptors and vision for which no effective treatment is available. Several animal models of retinitis pigmentosa are used to elucidate its pathogenesis and to devise therapies. The retinal degeneration (rd1) mouse is one such animal model in which rod-specific phosphodiesterase (PDE) is in
Background: Targeted temperature management is recommended after out-of-hospital cardiac arrest and may be achieved using a variety of cooling devices. This study was conducted to explore the performance and outcomes for intravascular versus surface devices for targeted temperature management after out-of-hospital cardiac arrest. Method: A retrospective analysis of data from the Targeted Temperatu
Malignant melanoma is a heterogeneous, malignant neoplastic disease, most often originating in the skin. Melanoma is characterized by a high mutational load and has a vastly variable prognosis, depending on disease stage. Genetic aberrations in the mitogen-activating protein kinase (MAPK) pathway are important in melanoma, of which mutations in BRAF and NRAS are the most common. Additionally, recu
Lung cancer is a common cancer type associated with poor prognosis. Even in the group of patients with earlystage tumors, for which curative treatment is possible, lung cancer recurrence is frequent. The aim of this thesis was to investigate the potential prognostic role of mutations in tumor specimens, blood-based proteins and circulating tumor DNA.In study I, we performed EGFR mutation detection
Objective: To investigate the causal role of cardiometabolic risk factors in osteoarthritis (OA) using associated genetic variants. Methods: We studied 27,691 adults from the Malmö Diet and Cancer Study (MDCS) and replicated novel findings among 376,435 adults from the UK Biobank. Trait-specific polygenic risk scores for low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol
Objective: The aim of this systematic review and meta-analysis (SR-MA) was to identify signaling molecule profiles and blood-derived biomarkers in migraine and cluster headache (CH) patients. Background: Currently no migraine and CH valid biomarkers are available. Blood tests based on biomarker profiles have been used to gather information about the nervous system. Such tests have not yet been est
Rationale & Objective: Data for outcomes of patients with end-stage renal disease (ESRD) secondary to systemic sclerosis (scleroderma) requiring renal replacement therapy (RRT) are limited. We examined the incidence and prevalence of ESRD due to scleroderma in Europe and the outcomes among these patients following initiation of RRT. Study Design: Registry study of incidence and prevalence and
Background: Male breast cancer (BC) is rare, managed by extrapolation from female BC. The International Male BC Program aims to better characterize and manage this disease. We report the results of part I, a retrospective joint analysis of cases diagnosed during a 20-year period. Methods: Patients with follow-up and tumor samples, treated between 1990 and 2010, in 93 centers/9 countries. Samples w
Genetic factors play an important role in the pathogenesis of osteoporosis but the genes that determine susceptibility to poor bone health are defined incompletely. Previous work has shown that a polymorphism that affects an Spl binding site in the COLIA1 gene is associated with reduced bone mineral density (BMD) and an increased risk of osteoporotic fracture in several populations. Data from cros
Background: Neuropathological studies have linked tau aggregates to neuronal loss. To describe the spatial distribution of neurofibrillary tangle pathology in post-mortem tissue, Braak staging has been used. The aim of this study was to examine in vivo associations between tau pathology, quantified with [18F]flortaucipir PET in regions corresponding to Braak stages, and atrophy across the Alzheime
