Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.

Lipid storage myopathies are considered inborn errors of metabolism affecting the fatty acid metabolism and leading to accumulation of lipid droplets in the cytoplasm of muscle fibers. Specific diagnosis is based on investigation of organic aids in urine, acylcarnitines in blood and genetic testing. An acquired lipid storage myopathy in patients treated with the antidepressant drug sertraline, a serotonin reuptake inhibitor, has recently emerged as a new tentative differential diagnosis.

Inclusion body myositis with early onset: a population-based study.

Introduction: Inclusion body myositis (IBM), an inflammatory myopathy with progressive weakness without efficient treatment, typically presents after 45 years of age and younger patients are sparsely studied.

Methods: In a population-based study during a 33-year period, 142 patients with IBM were identified in western Sweden. Six patients fell outside the European Neuromuscular Centre 2011 criteria for IBM due to young age at symptom onset, verified by a muscle biopsy < 50 years of age.

Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion.

Aims: Patients with dermatomyositis (DM) suffer from reduced aerobic metabolism contributing to impaired muscle function, which has been linked to cytochrome c oxidase (COX) deficiency in muscle tissue. This mitochondrial respiratory chain dysfunction is typically seen in perifascicular regions, which also show the most intense inflammatory reaction along with capillary loss and muscle fibre atrophy. The objective of this study was to investigate the pathobiology of the oxidative phosphorylation deficiency in DM.

Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis.

Objective: We performed a population-based study on inclusion body myositis with the primary aims to define the prevalence, survival rate, and incidence, and to investigate the symptom profiles associated with disease duration and sex over a 33-year period.

Methods: Patients diagnosed between 1985 and 2017 in Region Västra Götaland, Sweden, were identified according to the European Neuromuscular Centre diagnostic criteria from 2011.

Results: We identified 128 patients, 89 men and 39 women, with the strict clinicopathological definition of inclusion body myositis.

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.

Muscle pathology in inclusion body myositis (IBM) typically includes inflammatory cell infiltration, muscle fibers with rimmed vacuoles and cytochrome c oxidase (COX)-deficient fibers. Previous studies have revealed clonal expansion of large mitochondrial DNA (mtDNA) deletions in the COX-deficient muscle fibers. Technical limitations have prevented complete investigations of the mtDNA deletions and other mtDNA variants.

Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Objectives: To describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNA gene (MT-TN), which have not previously been published with clinical descriptions.

Materials & Methods: Two unrelated patients with PEO were clinically examined. Muscle biopsy was performed and investigated by exome sequencing, enzyme histochemistry, and immunohistochemistry.

The effect of neighbourhood social capital on child injuries: A gender-stratified analysis.

We designed a longitudinal retrospective cohort study to analyse the associations between neighbourhood social capital and child injures. Register data from the Umeå Simsam Lab in Sweden was used to measure child injuries and demographic and socioeconomic factors at individual, household and neighbourhood level. A social capital score from a previous survey was used to measure neighbourhood social capital.

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes. We present a 16-year-old girl with a history of exercise intolerance since childhood. Acylcarnitine species suggestive of multiple acyl-CoA dehydrogenase deficiency were found in serum, however genetic analysis did not reveal variants in genes associated with this disorder.

Childhood family structure and women's adult overweight risk: A longitudinal study.

Aim: The aim of this study was to investigate whether women's adult overweight and obesity risk was associated with their childhood family structure, measured as their mothers' marital status history, during the women's first 18 years of life.

Methods: Using linked register data, we analyzed 30,584 primiparous women born in Sweden in 1975 who were between 19-35 years of age when their height and pre-pregnancy weight was recorded. The outcomes were women's overweight/obesity (body mass index (BMI) ≥ 25 kg/m) and obesity (BMI ≥ 30 kg/m) and the predictor was mothers' marital status history, which was summarized using sequence analysis.

Regional inequalities in pre-pregnancy overweight and obesity in Sweden, 1992, 2000, and 2010.

Aims: To investigate regional differences and time trends in women's overweight and obesity in Sweden.

Methods: Using data from the Swedish Medical Birth Register (women aged ⩾18 years, first pregnancy only) and the Total Population Register accessed through the Umeå SIMSAM Lab, age-standardized prevalence of pre-pregnancy overweight/obesity (BMI ⩾ 25 kg/m(2)) and obesity (BMI ⩾ 30 kg/m(2)) were estimated by county for the years 1992, 2000, and 2010. Maps were created using ArcMap v10.

Mitochondrial pathology in inclusion body myositis.

Inclusion body myositis (IBM) is usually associated with a large number of cytochrome c oxidase (COX)-deficient muscle fibers and acquired mitochondrial DNA (mtDNA) deletions. We studied the number of COX-deficient fibers and the amount of mtDNA deletions, and if variants in nuclear genes involved in mtDNA maintenance may contribute to the occurrence of mtDNA deletions in IBM muscle. Twenty-six IBM patients were included.

Neighborhood conditions and celiac disease risk among children in Sweden.

Aim: To investigate celiac disease (CD) clustering at different geographical levels and to examine the association between neighborhood demographic and socioeconomic conditions and the risk of neighborhood CD.

Methods: We included 2080 children diagnosed with CD between 1998 and 2003, identified from 43 of the 47 reporting hospitals in Sweden. A total of 8036 small area market statistics (SAMS) areas were included; these were nested in 253 municipalities that were further nested into eight 'nomenclature of territorial units for statistics' (NUTS) 2 regions.

Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.

The mitochondrial DNA (mtDNA) depletion syndrome is a genetically heterogeneous group of diseases caused by nuclear gene mutations and secondary reduction in mtDNA copy number. We describe a patient with progressive muscle weakness and increased creatine kinase and lactate levels. Muscle weakness was first noted at age 1.

Factors shaping workplace segregation between natives and immigrants.

Research on segregation of immigrant groups is increasingly turning its attention from residential areas toward other important places, such as the workplace, where immigrants can meet and interact with members of the native population. This article examines workplace segregation of immigrants. We use longitudinal, georeferenced Swedish population register data, which enables us to observe all immigrants in Sweden for the period 1990-2005 on an annual basis.

FGF23 affects the lineage fate determination of mesenchymal stem cells.

FGF23 is a bone-derived hormone that regulates mineral metabolism by inhibiting renal tubular phosphate reabsorption and suppressing circulating 1,25(OH)2D and PTH levels. These effects are mediated by FGF-receptor binding and activation in the presence of its coreceptor Klotho, which is expressed in the distal tubules of the kidney. Recently, expression of Klotho in skeletal tissues has been reported, indicating a direct, yet unclear, extrarenal effect of FGF23 on cells involved with bone development and remodeling.

Nampt expression increases during osteogenic differentiation of multi- and omnipotent progenitors.

Despite emerging data showing that metabolic changes occur with stem cell differentiation, the cross-talk between factors governing energy metabolism and epigenetic modification is not understood. Nicotinamide adenine dinucleotide (NAD) participates in both energy metabolism and protein modification processes. Changes of the intracellular NAD concentration have been shown to correlate with differentiation of adult and embryonic stem cells.

The direct anterior approach: initial experience of a minimally invasive technique for total hip arthroplasty.

Background: Less invasive approaches for hip arthroplasty have been developed in order to decrease traumatisation of soft tissue and shorten hospital stay. However, the benefits with a new technique can be at the expense of a new panorama of problems. This manuscript describes, with emphasis on postoperative complications, our experience from the first 200 cases of unilateral hip replacement using the direct anterior minimally invasive (MIS) approach.

Nicotinamide phosphoribosyltransferase (Nampt) affects the lineage fate determination of mesenchymal stem cells: a possible cause for reduced osteogenesis and increased adipogenesis in older individuals.

Human aging is associated with a progressive decline in bone mass and an accumulation of marrow fat. We found that osteoblast differentiation was reduced and adipocyte formation increased in bone marrow stromal cells derived from aged mice compared with young controls. The increased adipogenesis correlated with a relatively lower Sirt1 activity and a lower intracellular NAD(+) concentration.

Resveratrol prevents RANKL-induced osteoclast differentiation of murine osteoclast progenitor RAW 264.7 cells through inhibition of ROS production.

The bone protective effects of resveratrol have been demonstrated in several osteoporosis models while the underlying mechanism is largely unclear. In the present study, we evaluated the effects of resveratrol on differentiation and apoptosis of murine osteoclast progenitor RAW 264.7 cells.

Resveratrol inhibits proliferation and promotes apoptosis of osteosarcoma cells.

The phytoalexin resveratrol has been described to have chemopreventive and chemotherapeutic effects in several tumor models while its effects on osteosarcoma have not been extensively studied. Additionally, resveratrol is a potent activator of the Sirt1/Sir2 (silent information regulator 2) family of NAD-dependent deacetylases which plays a role in calorie restriction-mediated tumor suppression. In the present study, we evaluated the effect of resveratrol on growth and apoptosis in four osteosarcoma cell lines (HOS, Saos-2, U-2 OS and MG-63) and a normal human osteoblast cell line (NHOst).

Species difference exists in the effects of 1alpha,25(OH)(2)D(3) and its analogue 2-methylene-19-nor-(20S)-1,25-dihydroxyvitamin D(3) (2MD) on osteoblastic cells.

The direct effect of 1alpha,25(OH)(2)D(3) on osteoblasts remains unclear. In this study, we evaluated the in vitro effects of 1alpha,25(OH)(2)D(3) and its analogue, 2-methylene-19-nor-(20S)-1,25-dihydroxyvitamin D(3) (2MD), on osteoblasts from three different species, i.e.

Activation of Sirt1 decreases adipocyte formation during osteoblast differentiation of mesenchymal stem cells.

Mesenchymal stem cells (MSC) can differentiate into osteoblasts, adipocytes, chondrocytes and myoblasts. It has been suggested that a reciprocal relationship exists between the differentiation of MSC into osteoblasts and adipocytes. Peroxisome proliferator-activated receptor gamma2 (PPARgamma2) is a key element for the differentiation into adipocytes.

IL-6 receptor expression and IL-6 effects change during osteoblast differentiation.

Studies of the effects of interleukin-6 on osteoblasts have yielded conflicting results. In several earlier in vitro studies it has been stated that IL-6 has no effects on osteoblasts unless soluble IL-6 receptor is added. These results are contradictory to the fact that IL-6 receptors are expressed in osteoblasts in vivo.