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showing 10 items of 10618 documents
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
2012
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are no…
Association of a single nucleotide polymorphism of RANK gene with blood pressure in Spanish women
2020
Abstract In addition to governing key functions in bone metabolism and the immune system, the RANK/RANKL/OPG system plays a role in the vascular system, particularly in vascular calcification and atherosclerosis. Given that these 2 phenotypes are considered a major cause of high blood pressure (BP), in this study we analyzed the association of SNPs in RANK and OPG genes with blood pressure. An observational study was conducted of 2 SNPs in the RANK gene (rs884205 and rs78326403) and 1 in the OPG gene (rs4876869) with systolic (SBP) and diastolic blood pressure (DBP) in a cohort of 695 women. Data analysis revealed a statistically significant association between the SNP rs884205 and BP press…
Prevalence estimation of celiac disease in the general adult population of Latvia using serology and HLA genotyping
2015
Background: Prevalence estimates for celiac disease (CD) depend on the method used. The role of deamidated gliadin peptide (DGP) and genetic testing in epidemiological studies and diagnostic settings of celiac disease (CD) has still to be established. Objectives: The objective of this article is to assess the prevalence of CD in Latvia by combining serological tests with DQ2.5/ DQ8 testing. Methods: A total of 1444 adults from a randomly selected cross-sectional general population sample were tested by ELISA for tTG IgA, DGP IgA and IgG antibodies (QUANTA Lite, Inova Diagnostics Inc). Samples with tTG IgA 20U were tested for EMA IgA by indirect immunofluorescence assay, and all specimens wi…
Effect of a HIIT protocol on the lower limb muscle power, ankle dorsiflexion and dynamic balance in a sedentary type 1 diabetes mellitus population: …
2020
Background Type 1 diabetes mellitus (T1DM) is commonly associated with premature loss of muscle function, ankle dorsiflexion and dynamic balance. Those impairments, usually, lead to physical functionality deterioration. High-intensity interval training is an efficient and safety methodology since it prevents hypoglycemia and not requires much time, which are the main barriers for this population to practice exercise and increase physical conditioning. We hypothesized that a 6-week HIIT program performed on a cycle ergometer would increase lower limb muscle power, ankle dorsiflexion range of motion and dynamic balance without hypoglycemic situations. Methods A total of 19 diagnosed T1DM sub…
Medication adherence and persistence in type 2 diabetes mellitus: perspectives of patients, physicians and pharmacists on the Spanish health care sys…
2017
Elena Labrador Barba,1 Marta Rodríguez de Miguel,1 Antonio Hernández-Mijares,2,3 Francisco Javier Alonso-Moreno,4 Maria Luisa Orera Peña,1 Susana Aceituno,5 María José Faus Dader6 1Department of Medicine, Mylan, Madrid, 2Department of Endocrinology and Nutrition, Doctor Peset University Hospital, Valencia, 3Department of Medicine, University of Valencia, Valencia, 4Department for Primary Health Care, Centro de Salud Sillería, Toledo, 5Outcomes’10, Castellon, 6Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, University of Granada, Granada, Spain Objective: A good relationship between diabetes pa…
Metabolic syndrome therapy: Prevention of vascular injury by antidiabetic agents
2005
More than 65 million Americans are currently obese. Type 2 diabetes mellitus, frequently seen in obese subjects, affects 17 million adults in the United States, with a continuous and alarmingly increasing rate. To prevent development of diabetes in those who are at high risk, it is recommended to optimize meal planning and enhance physical activity to make sustained weight reduction possible. In addition to lifestyle changes, various oral antidiabetic agents are available, with diverse mechanisms of action. Some target defective insulin secretion (sulphonylureas, benzoic acid derivatives) or glucose absorption (glycosidase inhibitors), whereas others target insulin resistance (metformin, th…
Prevalence of Genital Human Papilloma Virus Infection and Genotypes among Young Women in Sicily, South Italy
2008
Abstract Infection with oncogenic human papilloma virus (HPV) types is a necessary cause of cervical cancer. This study assessed the prevalence of HPV infection and genotypes among 1,006 randomly selected women, ages 18 to 24 years, living in Sicily (south Italy). The overall HPV rate was 24.1% (95% confidence interval, 21.5-26.9). The most frequent types were HPV-16 (4.5%), HPV-53 (2.7%), and HPV-84 (2.6%). The prevalence of vaccine types HPV-6, HPV-11, and HPV-18 was 1.4%, 0.1%, and 1.3%, respectively. Cytologic abnormalities were uncommon (3.1%) and associated with HPV detection (P < 0.0001). The only risk factor for HPV infection was the number of sexual partners (women with 2-3 …
IgG anti-endothelial cell antibodies (AECA) in type I diabetes mellitus; induction of adhesion molecule expression in cultured endothelial cells
1998
SUMMARYAECA were detected in 25 of 71 patients with type 1 diabetes mellitus and in two of 33 healthy subjects. Patients with diabetes of < 1 year duration and those with long-standing disease had the highest levels of these antibodies. Inhibition studies suggest that at least part of the AECA reactivity is due to cross-reactive anti-ssDNA antibodies. AECA-positive sera were able to increase intercellular adhesion molecule-1 (ICAM-1) and E-selectin on human umbilical vein endothelial cells (HUVEC). Increased binding of polymorphonuclear (PMN) cells was also found to accompany raised E-selectin expression. Soluble ICAM-1 and E-selectin were also found to be increased in the sera of AE…
Type IV collagen and laminin in slow and fast skeletal muscle in rats--effects of age and life-time endurance training.
1988
The changes in the biochemical composition of basement membrane (BM) in slow-twitch (m. soleus, MS) and fast-twitch (m. rectus femoris, MRF) skeletal muscles of rats were studied during aging and life-time endurance training (treadmill running). The concentrations of the 7S domain of type IV collagen and of the P2 fragment of laminin were determined with radioimmunoassays in the muscles of rats aged 1, 2, 4, 10, and 24 months. The concentration of type IV collagen was higher in MS than in MRF and increased significantly with age. At older ages, the concentration tended to be higher in the MS of trained than untrained rats. The concentration of laminin was significantly higher in MRF than in…
Polycystic ovary syndrome: metabolic consequences and long-term management.
2014
Young women with polycystic ovary syndrome (PCOS) present an increased risk for type II diabetes and cardiovascular diseases. The prevalence of altered glucose tolerance ranges between 20 and 35 % in patients while the prevalence of type II diabetes ranges between 2 and 8 % and seems related to body weight and ethnic group. Moving from the young fertile age to the 40s and the menopause the prevalence of type II diabetes continues to increase compared to the general female population and may reach 10-16 % of PCOS women. However, prevalence of altered glucose tolerance does not increase. Also cardiovascular risk is increased in a large part of young PCOS women but this risk tends to be normal…