A5035851693- Inflammatory Myopathies and Dermatomyositis
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Pancreatic and Hepatic Oncology Research
- Pediatric Hepatobiliary Diseases and Treatments
- Cardiomyopathy and Myosin Studies
- Estrogen and related hormone effects
- Gallbladder and Bile Duct Disorders
- Trace Elements in Health
- Immunodeficiency and Autoimmune Disorders
- Metabolism and Genetic Disorders
- Amyotrophic Lateral Sclerosis Research
- Chronic Lymphocytic Leukemia Research
- Liver Disease Diagnosis and Treatment
- Nuclear Structure and Function
- Selenium in Biological Systems
- Cancer Treatment and Pharmacology
- Iron Metabolism and Disorders
- Muscle metabolism and nutrition
- Sulfur Compounds in Biology
- Diet and metabolism studies
- Redox biology and oxidative stress
- RNA Research and Splicing
- Parkinson's Disease and Spinal Disorders
Karolinska Institutet
2009-2025
Karolinska University Hospital
2014-2025
Linköping University
2013-2024
Linköping University Hospital
2002-2021
University of Helsinki
2019
Tampere University
2019
Washington University in St. Louis
2019
Vaasa Central Hospital
2019
ADx NeuroSciences
2012
Neurosciences Institute
2012
The selenium salt selenite (SeO 3 2− ) is cytotoxic in low to moderate concentrations, with a remarkable specificity for cancer cells resistant conventional chemotherapy. Our data show that uptake and accumulation, rather than intracellular events, are crucial the specific cytotoxicity observed cells. We depends on extracellular reduction, environment key factor cytotoxicity. reduction mediated by cysteine, efficacy determined of cystine x c − antiporter secretion cysteine multidrug...
Objective Multiple acyl‐coenzyme A dehydrogenase deficiency (MADD) is a disorder of fatty acid oxidation and considered an inborn error metabolism. In recent years, we have diagnosed increasing number patients where, despite extensive investigation, no disease‐causing mutations been found. We therefore investigated cohort consecutive patients, with the objective to detect possible non‐genetic causes. Methods searched patient records registry muscle biopsies, for MADD, within past 10 years....
Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic familial cases linked to various chromosomal regions. The mutated gene is unknown most cases. We studied eight individuals, from three apparently unrelated families, clinical pathological features of hereditary failure. investigations included examination, muscle histopathology genetic analysis by whole exome sequencing single nucleotide polymorphism arrays. All patients had...
Abstract Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet genetic cause of up to 50% cases remains unknown. Here, we show that mutations in KLHL24 HCM humans. Using genome-wide linkage analysis and exome sequencing, identified homozygous two consanguineous families with HCM. Of 11 young affected adults identified, 3 died suddenly 1 had a cardiac transplant due heart failure. member Kelch-like protein family, which acts as substrate-specific adaptors...
Abstract Small hydrophobic ligands identifying intracellular protein deposits are of great interest, as inclusion bodies the pathological hallmark several degenerative diseases. Here we report that fluorescent amyloid ligands, termed luminescent conjugated oligothiophenes (LCOs), rapidly and with high sensitivity detect in skeletal muscle tissue from patients sporadic body myositis (s‐IBM). LCOs having a backbone at least five thiophene units emitted strong fluorescence upon binding, showed...
Mutations of the gene encoding four-and-a-half LIM domain 1 (FHL1) are causative factor several X-linked hereditary myopathies that collectively termed FHL1-related myopathies. These disorders characterized by severe muscle dysfunction and damage. Here, we have shown patients with idiopathic inflammatory (IIMs) develop autoimmunity to FHL1, which is a muscle-specific protein. Anti-FHL1 autoantibodies were detected in 25% IIM patients, while other autoimmune diseases or muscular dystrophies...
Thioredoxins (Trx) and glutaredoxins (Grx) are thiol oxidoreductases that ubiquitously expressed, involved in several biological processes. The expression of thioredoxins is induced many neoplasms, correlates with prognosis gallbladder colorectal carcinoma. aim the present study was to examine pattern these proteins (redoxins) hepatocellular carcinoma (HCC) correlate their levels clinical features. Paraffin-embedded tissues from 25 patients resected for HCC 15 (CRC) liver metastases were...
Background & Aims Adenocarcinomas of the pancreatobiliary system are currently classified by their primary anatomical location. In particular, pathological diagnosis intrahepatic cholangiocarcinoma is still considered as a exclusion metastatic adenocarcinoma. Periampullary cancers have been previously according to histological type differentiation (pancreatobiliary, intestinal), but overlapping morphological features hinder differential diagnosis. We performed an integrative...
Vrethem M, Hellblom L, Widlund Ahl Danielsson O, Ernerudh J, Forsberg P. Chronic symptoms are common in patients with neuroborreliosis – a questionnaire follow-up study. Acta Neurol Scand 2002: 106: 205–208. © Blackwell Munksgaard 2002. Objectives– The existence of chronic is controversial. aim our study was to investigate the and kind persistent previously treated because neurological as result neuroborreliosis. Material methods– A total 106 neuroborreliosis, according established criteria,...
Selenium compounds influence cell growth and are highly interesting candidate for cancer chemotherapy. Over decades an extensive number of publications have reported efficient inhibitory effects with a suggested mechanisms f especially redox-active selenium compounds. However, the studies difficult to compare due high degree variations in half-maximal inhibitor concentration (IC50) dependent on cultivation conditions methods assess viability. Among other factors, variability culture may...
One-third of patients with non-alcoholic fatty liver disease (NAFLD) develop dysmetabolic iron overload syndrome (DIOS), the pathogenesis which is unknown. Altered production iron-regulatory peptide hepcidin has been reported in NAFLD, but it unclear if this related to accumulation, lipid status or steatohepatitis.Eighty-four disease, 54 had overload, underwent biopsy (n = 66) and/or magnetic resonance imaging 35) for content determination. Thirty-eight 29 chronic other than and 17 untreated...
Objective This study aimed to provide insight about clinical management of ciliated hepatic foregut cysts (CHFC) at a tertiary centre.
Objectives - To study the distribution of CD4+ and CD8+ T-cell subsets in cerebrospinal fluid (CSF) peripheral blood from patients with multiple sclerosis (MS), meningitis, other neurological diseases healthy controls. Material methods The expression markers for naive memory cells (CD45RA+ CD45RO+), helper/inducer (CD29+) on as well CD45RO+ killer/effector (S6F1+) was investigated (n=28), meningitis (n = 13), 16), controls 16) by 2-color flow cytometry. Results majority T CSF 4 groups...
The objective of this study is to assess the frequency autoantibodies against 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) in a single center myositis cohort and analyze associations with statin exposure, clinical features, outcome disease course.A total 312 patients idiopathic inflammatory myopathies (IIMs) followed at rheumatology clinic, Karolinska University Hospital, were identified Euromyositis registry between 1988 2014 classified according 2017 European Alliance...
We report a second family with autosomal dominant transportinopathy presenting congenital or early-onset myopathy and slow progression, causing proximal less pronounced distal muscle weakness.Patients had clinical examinations, MRI, EMG, biopsy studies. The MYOcap gene panel was used to identify the defect in family. Muscle biopsies were for histopathologic protein expression studies, TNPO3 constructs study effect of mutations transfected cells.We identified novel heterozygous mutation,...
Abstract Objectives Idiopathic inflammatory myopathies ( IIM ) are often associated with other immune‐mediated diseases or malignancy. Some studies have reported a high frequency of celiac disease in . The aim this study was to investigate the prevalence disease, systemic diseases, and malignancy cohort patients, estimate incidence county Östergötland, Sweden. Material Methods We reviewed medical records analyzed sera from 106 fulfilling pathological criteria myopathy, for presence IgA...
Objective. Insights into the pathogenesis of inflammatory myopathies have led to new diagnostic methods. The aims our study were (1) evaluate consequences using classification Amato/European Neuromuscular Centre Workshop (ENMC) compared that Bohan and Peter; (2) any benefit in an extended pathological investigation. Methods. From a consecutive retrospective database, we evaluated 99 patients for classification. Patients with inclusion body myositis (IBM) classified according Griggs, et al ....
Linkage analysis in Brazilian families with amyotrophic lateral sclerosis (ALS) revealed that a missense mutation p.Pro56Ser conserved gene VAMP-associated protein type B and C (VAPB) cosegregates disease. Blood samples were studied from 973 Swedish, 126 Portuguese 19 Icelandic ALS patients, 644 control subjects. We identified five VAPB mutations, two of which are novel, 14 Swedish patients nine individuals Sweden Portugal. The mutations all carried diagnosis sporadic ALS. Mutations also...
BACKGROUND:Solid pseudopapillary neoplasm (SPN) of the pancreas, which predominantly affects young women, is an uncommon condition with low malignant potential. It often asymptomatic. This tumor has a metastatic rate and good prognosis in contrast to other pancreatic tumors. Approximately 14% SPNs develop liver metastasis, but for features metastasis been reported occur over 55% cases. Complete surgical resection treatment choice increasing survival recurrent disease. When impossible,...
Abstract Objectives To determine prevalence and clinical associations of anti-Four-and-a-half-LIM-domain 1 (FHL1) autoantibodies in patients with idiopathic inflammatory myopathies (IIM) to evaluate autoantibody levels over time. Methods Sera at the time diagnosis from IIM (n = 449), autoimmune disease controls (DC, n 130), neuromuscular diseases (NMDs, 16) healthy (HC, 100) were analysed for anti-FHL1 by enzyme-linked immunosorbent assay (ELISA). Patients FHL1+ FHL1− included a longitudinal...
Polymyositis and inclusion body myositis are idiopathic inflammatory myopathies, with a pathology characterized by partial invasion of non-necrotic muscle fibres CD8+ cytotoxic T-cells, leading to fibre degeneration. Although the main effector pathway T-cells is induce apoptosis target cells, it has remained unclear if occurs in these diseases, so, mediated T-cells. In consecutive biopsy sections from 10 patients invasion, cells were assessed immunohistochemistry apoptotic nuclei TUNEL...
Radical tumor resection (pR0) is prognostic for disease-free and overall survival after of perihilar cholangiocarcinoma (pCCA). However, no universal agreement exists on the definition radical histopathological reporting. The aim this study was to provide a standardized protocol assessment reporting surgical specimen obtained pCCA. All consecutive patients operated pCCA with curative intent at Karolinska University Hospital, Stockholm, Sweden between 2012 2021 were included. A liver...