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showing 10 items of 10618 documents
Relationship of eye muscle antibodies with HLA phenotypes and thyroid-stimulating immunoglobulins in endocrine orbitopathy.
1991
The relationship between endocrine orbitopathy and Graves' hyperthyroidism is still not clairified. The purpose of this study was to elucidate the incidence of eye muscle antibodies and the relationship with HLA phenotypes and thyroid antibodies in 65 patients with endocrine orbitopathy classes 1–5. Both bovine and abdominal muscles were used as antigens in ELISA systems in which IgG and IgM antibodies were assayed. Before starting the immunosuppressant therapy, 46/65 patients (71%) showed a positive result for eye muscle antibodies. Those patients with an active disease had such antibodies more frequently. Where the ophthalmopathy was of recent onset IgM antibodies were found, whereas pati…
The Atrial Natriuretic Peptide Genetic Variant rs5068 Is Associated With a Favorable Cardiometabolic Phenotype in a Mediterranean Population
2013
OBJECTIVE We hypothesized that the minor allele of the atrial natriuretic peptide (ANP) genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in a general Mediterranean population. RESEARCH DESIGN AND METHODS We genotyped a random sample of the residents of Ventimiglia di Sicilia, Sicily, for rs5068. RESULTS Genotype frequencies of rs5068 are AA, 93.5%; AG, 6.4%; and GG, 0.1%. All subsequent analyses are AA versus AG+GG. After adjusting for age and sex, the minor G allele is associated with lower BMI (estimate [SE]: −1.7 kg/m2 [0.8], P = 0.04). In the AG+GG group, males with HDL cholesterol levels <40 mg/dL are less frequent (P = 0.05) and obesity tends to …
Treatment-associated polymorphisms in protease are significantly associated with higher viral load and lower CD4 count in newly diagnosed drug-naive …
2012
Background: The effect of drug resistance transmission on disease progression in the newly infected patient is not well understood. Major drug resistance mutations severely impair viral fitness in a drug free environment, and therefore expected to revert quickly. Compensatory mutations, often already polymorphic in wild-type viruses, do not tend to revert after transmission. While compensatory mutations increase fitness during treatment, their presence may also modulate viral fitness and virulence in absence of therapy and major resistance mutations. We previously designed a modeling technique that quantifies genotypic footprints of in vivo treatment selective pressure, including both drug …
Allelic variants of IL1R1gene associate with severe hand osteoarthritis
2010
Background In search for genes predisposing to osteoarthritis (OA), several genome wide scans have provided evidence for linkage on 2q. In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families. Methods We genotyped 32 single nucleotide polymorphisms (SNPs) in this 470 kb region comprising six genes belonging to the interleukin 1 superfamily and monitored for association with individual SNPs and SNP haplotypes among severe familial hand OA cases (material extended from our previous linkage study; n = 134), unrelated end-stage bilateral primary knee OA cases (n =…
Fear of hypoglycemia in patients with type 2 diabetes: The role of interoceptive accuracy and prior episodes of hypoglycemia.
2017
Abstract Objective Fear of hypoglycemia (FoH) is a limiting factor for diabetes self-management and can have detrimental effects on quality of life. However, relatively little is known about its underlying mechanisms. In line with findings on patients with anxiety disorders, we hypothesized that interoceptive accuracy (IA) might be positively linked to FoH in patients with type 2 diabetes (T2DM). Methods 133 patients with T2DM were screened according to the extreme quartiles of the Hypoglycemia Fear Survey worry subscale (HFS-W). Overall, 66 participants (HFS-W 17) were included in the present study. Participants completed questionnaires on sociodemographic and diabetes-related measures. …
Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population.
2001
Classes I and II human leukocyte antigens (HLA) genes encode highly polymorphic heterodimeric glycoproteins involved in the control of immune responses. The HLA class I gene HFE seemingly no longer participates in immunity because it has lost its ability to bind peptides and it has acquired the ability to form complex with the receptor for iron-binding transferrin by regulating iron uptake by intestinal cells. Thus, it indirectly regulates immune responses too, because iron availability plays a role in specific and non-specific immune responses. The distribution of HFE polymorphisms in Sicilian centenarians and nonagenarians was studied to evaluate if HFE alleles might be represented differ…
Police attitudes toward policing partner violence against women: do they correspond to different psychosocial profiles?
2010
This study analyzed whether police attitudes toward policing partner violence against women corresponded with different psychosocial profiles. Two attitudes toward policing partner violence were considered—one reflecting a general preference for a conditional law enforcement (depending on the willingness of the victim to press charges against the offender) and the other reflecting a general preference for unconditional law enforcement (regardless of the victim’s willingness to press charges against the offender). Results from a sample of 378 police officers showed that those police officers who expressed a general preference for unconditional law enforcement scored higher in other-oriented…
[Arterial hypertension and prediabetes].
2016
Abstract Background and objectives The aim of this study was to assess the factors related to new diabetes in hypertensive. Patients and methods This prospective follow-up study involved 2588 non-diabetic, hypertensive patients. The total follow-up was 15,053 patient-years with a median of 3.4 years (interquartile interval 1.4–6.8). Results During the follow-up, 333 (13%) patients had new diabetes, with a conversion rate of 2.21 (95% confidence interval [CI], 1.98–2.46) 100/patients/year. In a Cox proportional hazard model including baseline characteristics and modifications during the follow-up the three components of metabolic syndrome (excluding blood pressure and glucose values) HR 1.69…
Teprotumumab for Thyroid-Associated Ophthalmopathy
2017
Thyroid-associated ophthalmopathy, a condition commonly associated with Graves' disease, remains inadequately treated. Current medical therapies, which primarily consist of glucocorticoids, have limited efficacy and present safety concerns. Inhibition of the insulin-like growth factor I receptor (IGF-IR) is a new therapeutic strategy to attenuate the underlying autoimmune pathogenesis of ophthalmopathy.We conducted a multicenter, double-masked, randomized, placebo-controlled trial to determine the efficacy and safety of teprotumumab, a human monoclonal antibody inhibitor of IGF-IR, in patients with active, moderate-to-severe ophthalmopathy. A total of 88 patients were randomly assigned to r…
Epigenetic differences arise during the lifetime of monozygotic twins.
2005
Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall…