A5021512169- Liver Disease Diagnosis and Treatment
- Adrenal Hormones and Disorders
- Liver Diseases and Immunity
- Diabetes and associated disorders
- Liver Disease and Transplantation
- Hormonal Regulation and Hypertension
- Gallbladder and Bile Duct Disorders
- Inflammatory Bowel Disease
- Pancreatic function and diabetes
- Hepatocellular Carcinoma Treatment and Prognosis
- RNA Research and Splicing
- Eosinophilic Esophagitis
- Drug Transport and Resistance Mechanisms
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Cancer-related gene regulation
- Pediatric Hepatobiliary Diseases and Treatments
- Hepatitis Viruses Studies and Epidemiology
- Viral Infectious Diseases and Gene Expression in Insects
- Alzheimer's disease research and treatments
- Autoimmune Neurological Disorders and Treatments
- T-cell and B-cell Immunology
- Complement system in diseases
- Renal Diseases and Glomerulopathies
- Diet, Metabolism, and Disease
- Receptor Mechanisms and Signaling
Uppsala University
2015-2025
Uppsala University Hospital
2015-2024
Monash University
2002
Sahlgrenska University Hospital
2002
Ludwig Cancer Research
1990
University of Minnesota
1990
Slovak Academy of Sciences
1989
Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate molecular pathogenesis of organ-specific autoimmunity patients with APS-1, autoantigen responsible for hypoparathyroidism, hallmark APS-1 and its most common endocrinopathy, has not yet been identified.We performed immunoscreening human parathyroid complementary DNA library, using serum...
The prevalence of autoantibodies against nine intracellular enzyme autoantigens, namely 21-hydroxylase, side-chain cleavage (SCC), 17 alpha-hydroxylase, glutamic acid decarboxylase 65, aromatic L-amino decarboxylase, tyrosine phosphatase-like protein IA-2, tryptophan hydroxylase (TPH), hydroxylase, cytochrome P450 1A2, and the extracellular calcium-sensing receptor, was assessed in 90 patients with autoimmune polyendocrine syndrome type I. A multivariate logistic regression analysis...
Autoimmune polyendocrine syndrome type I (APS I) and idiopathic Addison's disease are both disorders with adrenal insufficiency but differences in genetic background, clinical presentation, extent of extraadrenal manifestations. In this study the major autoantigen identified sera from patients APS was characterized by analyses using indirect immunofluorescence, Western blots subcellular fractions recombinant proteins, immunoprecipitations [35S]methionine-labeled lysates a human...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, OMIM 240300) is a rare autoimmune disease caused by mutations in the regulator (AIRE) gene on chromosome 21q22.3. This monogenic provides an interesting model for studies of other common and more complex diseases. The most components APECED are chronic mucocutaneous candidiasis, hypoparathyroidism, Addison's disease, but several endocrine deficiencies ectodermal dystrophies also occur phenotype varies widely. AIRE...
•CCA was diagnosed in 2% of patients with PSC during a 5-year follow-up.•The risk hepatobiliary malignancy associated severe biliary strictures.•Yearly MRI cancer surveillance failed to provide long-term survival.•Individualised strategies for early diagnosis CCA are warranted. Background & AimsThe evidence tumour primary sclerosing cholangitis (PSC) is scarce. In this study, we aimed prospectively evaluate cholangiocarcinoma (CCA) yearly cholangiopancreatography (MRI/MRCP) nationwide...
OBJECTIVE The aim of the present study was to investigate Norwegian patients with autoimmune polyendocrine syndrome type I (APS I), respect occurrence and clinical presentation, reactivity towards different autoantigenes mutations in regulator (AIRE) gene. PATIENTS Twenty from 15 families APS (11 males, nine females; mean age 26 years, range 4–54) were included by contacting all major hospitals Norway. METHODS Clinical data collected both their physicians use questionnaires patient records....
Vitiligo is common in the hereditary disorder autoimmune polyendocrine syndrome type I (APS I). Patients with APS are known to have high titer autoantibodies directed against various tissue-specific antigens. Using sera from patients for immunoscreening of a cDNA library human scalp, we identified transcription factors SOX9 and SOX10 as novel autoantigens related this syndrome. Immunoreactivity was found 14 (15%) 20 (22%) 91 studied. All reacting displayed reactivity SOX10, suggesting shared...
Efflux transport proteins are important components of the intestinal barrier against bacterial toxins, carcinogens, and drugs. This investigation was conducted to determine expression Breast Cancer Resistance Protein (BCRP/ABCG2), P-glycoprotein (Pgp/MDR1/ABCB1), Multidrug 2 (MRP2/ABCC2) in gut mucosa patients with ulcerative colitis (UC).Patients were thoroughly diagnosed according well-established clinical, endoscopic, histologic criteria be included group active UC (n = 16) or remission...
The human platelet-derived growth factor (PDGF) A-chain locus was characterized by restriction endonuclease analysis, and the nucleotide sequence of its exons determined. Seven were identified, spanning approximately 22 kilobase pairs genomic DNA. Alternative exon usage, identified cDNA cloning, occurs in a glioblastoma cell line may give rise to two types precursors with different C termini. exon-intron arrangement similar that PDGF B-chain/sis seemed divide precursor proteins into...
Patients with autoimmune polyendocrine syndrome type 1 (APS-1) suffer from multiple organ-specific autoimmunity autoantibodies against target tissue-specific autoantigens. Endocrine and nonendocrine organs such as skin, hair follicles, liver are targeted by the immune system. Despite sporadic observations of pulmonary symptoms among APS-1 patients, an mechanism for involvement has not been elucidated. We report here on a subset patients respiratory symptoms. Eight were identified. Severe...
Systemic sclerosis (SSc) is a severe connective tissue disease of unknown etiology, characterized by fibrosis the skin and multiple internal organs. Recent findings suggested that driven stimulatory autoantibodies to platelet-derived growth factor receptor (PDGFR), which stimulate production reactive oxygen species (ROS) collagen fibroblasts. These results opened novel avenues research into diagnosis treatment SSc. The present study was undertaken confirm presence anti-PDGFR antibodies in...
Moderate alcohol consumption has been associated with a lower risk of disease severity in non-alcoholic fatty liver (NAFLD). It is unclear if this reflects current or lifetime drinking, can be attributed to confounders such as diet and exercise. We evaluated the impact on fibrosis NAFLD.We prospectively enrolled 120 subjects biopsy-proven NAFLD through detailed questionnaires examined consumption, physical activity. Main outcome measures were odds ratios (OR) for stage, calculated ordinal...
Abstract Background and Aim The prevalence clinical significance of extrahepatic autoimmune diseases (EHAIDs) have not been evaluated in a large cohort primary biliary cholangitis (PBC). Methods medical records 1554 patients with PBC from 20 international centers were retrospectively reviewed. Development decompensated cirrhosis (ascites, variceal bleeding, and/or hepatic encephalopathy) hepatocellular carcinoma considered endpoints. Results A total 35 different EHAIDs diagnosed 440 (28.3%)...
Golexanolone is a novel small molecule GABA-A receptor-modulating steroid antagonist under development for the treatment of cognitive and vigilance disorders caused by allosteric over-activation receptors neurosteroids. It restored spatial learning motor coordination in animal models hepatic encephalopathy (HE) mitigated effects intravenous allopregnanolone healthy adults dose-dependent fashion. Herein, we report data on safety, pharmacokinetics (PK) efficacy golexanolone adult patients with...
Abstract Background & Aims Evidence for the benefit of scheduled imaging early detection hepatobiliary malignancies in primary sclerosing cholangitis (PSC) is limited. We aimed to compare different follow‐up strategies PSC with hypothesis that regular improves survival. Methods collected retrospective data from 2975 patients 27 centres. Patients were followed start or case clinical 1 January 2000, until death last alive. The endpoint was all‐cause mortality. Results A broad variety...
Patients with autoimmune polyendocrine syndrome type I (APS I) have autoantibodies against the enzyme aromatic l-amino acid decarboxylase (AADC) of pancreatic β-cells. The aim present study was to investigate presence anti-AADC antibodies in a large cohort patients APS I, and isolated insulin-dependent diabetes mellitus (IDDM). We found AADC 35 69 (51%) but none 138 IDDM or 91 healthy controls. Among were more often those hepatitis (11/12, 92%), than without (24/57, 42%) (P = 0.003)....
Cats and humans, unlike most rodent species, develop amyloid in the islets of Langerhans conjunction with non-insulin-dependent diabetes mellitus. The consists a 37–amino acid polypeptide referred to as islet (IAPP). primary structures IAPP from human three species have previously been determined. Sequence divergence was seen region corresponding amino residues 20–29, which has suggested confer amyloidogenic properties molecule. Using polymerase chain-reaction methodology, we determined...
Treatment of patients with portal vein thrombosis (PVT) differs due to different etiology and wide range symptoms but certain seems benefit from endovascular intervention.To assess the safety efficiency treatment acute chronic PVT in cirrhotic non-cirrhotic liver.Twenty-one treated an procedure 2002-2013 were studied retrospectively. Data on etiology, onset extension thrombus, presenting symptoms, methods intervention, pressure gradients, complications, recurrence re-interventions, clinical...
Different autoantigens are thought to be involved in the pathogenesis of insulin-dependent diabetes mellitus, and they may account for variation clinical presentation disease. Sera from patients with autoimmune polyendocrine syndrome type I contain autoantibodies against beta-cell proteins glutamate decarboxylase an unrelated 51-kDa antigen. By screening expression library derived rat insulinoma cells, we have identified protein as aromatic-L-amino-acid (EC 4.1.1.28). In addition previously...