Search results for "Metabolic disease"
showing 10 items of 778 documents
A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA b…
2002
The Cockayne syndrome B (CSB) gene product is involved in the repair of various types of base modifications in actively transcribed DNA sequences. To investigate its significance for the repair of endogenous oxidative DNA damage, homozygous csb(-/-)/ogg1(-/-) double knockout mice were generated. These combine the deficiency of CSB with that of OGG1, a gene coding for the mammalian repair glycosylase that initiates the base excision repair of 7,8-dihydro-8-oxoguanine (8-oxoG). Compared to ogg1(-/-) mice, csb(-/-)/ogg1(-/-) mice were found to accumulate with age severalfold higher levels of oxidited purine modifications in hepatocytes, splenocytes and kidney cells. In contrast, the basal (ste…
Granuloma anulare disseminatum als seltene Nebenwirkung von Allopurinol
1995
During long-term therapy of hyperuricaemia with allopurinol (300 mg/d) two patients developed generalized granuloma annulare. The diagnoses were confirmed by histology; concomitant diseases, especially diabetes mellitus, were not detectable. Following discontinuation of allopurinol therapy, cutaneous granulomas healed without relapse. Hyperuricaemia could be controlled by low-purine diet and medication avoiding allopurinol. The clinical history of our two patients suggested a causal connection between allopurinol therapy and generalized granuloma annulare. For this reason we rate the development of this disease in both cases as a rare but significant side effect of allopurinol. This should …
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
2009
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…
Management of Statin Intolerance in 2018: Still More Questions Than Answers.
2018
Statin therapy is generally well tolerated and very effective in the prevention and treatment of cardiovascular disease, regardless of cholesterol levels; however, it can be associated with various adverse events (myalgia, myopathy, rhabdomyolysis, and diabetes mellitus, among others). Patients frequently discontinue statin therapy without medical advice because of perceived side effects and consequently increase their risk for cardiovascular events. In patients with statin intolerance, it may be advisable to change the dose, switch to a different statin, or try an alternate-day regimen. If intolerance is associated with all statins—even at the lowest dose—non-statin drugs and certain nutra…
Betatrophin Levels Are Related to the Early Histological Findings in Nonalcoholic Fatty Liver Disease
2021
Betatrophin, a liver hormone, regulates glucose and lipid metabolism. We investigated the betatrophin levels in nonalcoholic fatty liver disease (NAFLD) and searched for any relationship with histological severity and metabolic parameters. Fifty males with NAFLD [Nonalcoholic Steatohepatitis (NASH) (n = 32)
Differences between current clinical guidelines for screening, diagnosis and management of non-alcoholic fatty liver disease and real-world practice:…
2021
International audience; INTRODUCTION: Nonalcoholic fatty liver disease (NAFLD) is the most common liver disease and is associated with obesity and metabolic comorbidities. Liver steatosis can progress to nonalcoholic steatohepatitis (NASH) exhibiting a relevant risk of fibrosis and ultimately liver failure. To date, no approved treatment for NASH to reduce its clinical and humanistic burden has been developed. AREAS COVERED: We undertook a literature review to identify English language, national and international clinical guidelines for NAFLD regarding diagnosis, assessment and management, and determined their points of agreement and difference. Additionally, we investigated published liter…
A High Intake of Saturated Fatty Acids Strengthens the Association between the Fat Mass and Obesity-Associated Gene and BMI123
2011
Evidence that physical activity (PA) modulates the association between the fat mass and obesity-associated gene (FTO) and BMI is emerging; however, information about dietary factors modulating this association is scarce. We investigated whether fat and carbohydrate intake modified the association of FTO gene variation with BMI in two populations, including participants in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study (n = 1069) and in the Boston Puerto Rican Health (BPRHS) study (n = 1094). We assessed energy, nutrient intake, and PA using validated questionnaires. Genetic variability at the FTO locus was characterized by polymorphisms rs9939609 (in the GOLDN) and rs11…
Evaluación del estado de salud y nutricional de pacientes celiacos de la Comunidad Valenciana
2011
Celiac disease is an autoimmune pathology characterized by a chronic inflammation of the proximal part of the small intestine, caused by exposure to a vegetable protein present in some cereals called gluten. These cereals are wheat, barley, rye and, possibly by cross-contamination issues, oats. Due to a cell-mediated immune response towards gluten, changes in the structure and function of the small intestine mucosa occur, so the gut loses its ability to digest and absorb nutrients from food. The main symptoms are among others, chronic diarrhea, nutritional deficiencies of iron, vitamin B12, vitamin D, increased risk of developing T-cell lymphoma, bloating and abdominal pain, steatorrhea, ma…
Additional file 1 of Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): …
2021
Additional file 1: Table 1. Patients’ genotypes. All mutations were classified according to ACMG guidelines (Chora JR, Medeiros AM, Alves AC, Bourbon M. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. Genet Med. 2018;20(6):591-598). For 3 Homozygous LDLR and 1 LDLRAP1 causing mutations were not available and the diagnosis was only on clinical base. *Double Heterozygote patient for mutations in both LDLR (c.373C>T) and PCSK9 (c.60_ 65dupGCTGCT) genes.
MOESM1 of Association of statin use and clinical outcomes in heart failure patients: a systematic review and meta-analysis
2019
Additional file 1: Appendix 1. Assessment of risk of bias in the included studies using Cochrane criteria for RCTs. Appendix 2. Assessment of risk of bias in the included studies using Newcastle-Ottawa Quality Assessment Scale (NOS) for cohort studies. Figure S1. Association of statin versus non-statin use with all-cause mortality in heart failure only in cohort studies. Figure. S2. Association of statin versus non-statin use with CV mortality in heart failure only in cohort studies. Figure S3. Association of statin versus non-statin use hospitalization in heart failure only in cohort studies. Figure S4. Association of statin versus non-statin use with all-cause mortality by type of heart f…