Search results for "Cause"

Sorveglianza della mortalità infantile nella provincia di Palermo. Dati prelminari.

2007

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

2011

International audience; So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), the pathway of which is targeted by kidney canc…

A STAT4 variant increases liver fibrosis risk in Caucasian patients with chronic hepatitis B

2018

Background Host genetic modifiers of the natural history of chronic hepatitis B (CHB) remain poorly understood. Recently, a genome-wide association study (GWAS)-identified polymorphism in the STAT4 gene that contributes to the risk for hepatocellular carcinoma (HCC) was shown to be associated with the full spectrum of hepatitis B virus (HBV) outcomes in Asian patients. However, the functional mechanisms for this effect are unknown and the role of the variant in modulating HBV disease in Caucasians has not been investigated. Aims To determine whether STAT4 genetic variation is associated with liver injury in Caucasian patients with CHB and to investigate potential mechanisms mediating this e…

Role of Human Leukocyte Antigens (HLA) in Autoimmune Diseases

2018

Since the discovery of HLA 60 years ago, it has contributed to the understanding of the immune system as well as of the pathogenesis of several diseases. Aside from its essential role in determining donor-recipient immune compatibility in organ transplantation, HLA genotyping is meanwhile performed routinely as part of the diagnostic work-up of certain autoimmune diseases. Considering the ability of HLA to influence thymic selection as well as peripheral anergy of T cells, its role in the pathogenesis of autoimmunity is understandable. The aim of this paper is to provide a brief overview of the role and current clinical relevance of HLA-B27 in spondyloarthritis and HLA-B51 in Behçet's disea…

Comparison of the acute effects of anti-TNF-alpha drugs on a uveitis experimental model.

2010

To compare histopathological and biochemical effects of the anti-TNF-alpha drugs adalimumab and infliximab in a uveitis experimental model.Histopathological evaluation was performed 24 h after endotoxin (200 microg into the footpad) and drug administration, as well as biochemical analysis of oxidative stress-related markers in the aqueous humor.Severe inflammation was found in rat anterior chamber of the eye 24 h after endotoxin. Only infliximab administration partially prevented the endotoxin-induced disruption of the blood-aqueous barrier, as well as the increase in Rantes and MCP-1 concentration in aqueous humor. Both drugs ameliorated the histopathological score after endotoxin. Biochem…

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

2014

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR seque…

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

2003

Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by m…

Plantar pressure distribution analysis in normal weight young women and men with normal and claw feet: a cross-sectional study

2005

We analyzed the plantar support in 72 normal-weight young voluntaries (46 women, 26 men), by a baropodometric platform. We considered subjects with claw foot (CFS) and subjects with normal foot (NFS). We found a significant reduction of total plantar support surface in the CFS (P < 0.0001 for women, P < 0.001 for men), due to the reduction of the forefoot and rear foot areas of both plantar imprints. Indeed, CFS of both sexes exhibited higher values of both plantar pressure and peak pressure, compared to the NFS. Moreover, the load per units of plantar surface increased in CFS compared to the NFS. In conclusion, the reduction of plantar support surfaces in CFS of both sexes was associated t…

HLA Class II Differentiates Between Thyroid and Polyglandular Autoimmunity.

2015

The HLA class II genes are susceptibility genes for autoimmune endocrine diseases; however, scarce data are available pertaining to the determinants of genetic susceptibility to polyglandular autoimmunity (PGA). A total of 300 consecutive and unselected patients with either PGA or monoglandular autoimmune thyroid disease (AITD) and 100 healthy control subjects were genotyped for the HLA class II DRB1, -DQA1, and -DQB1 alleles. Compared to patients with AITD and controls, the HLA-DRB1*03 (pc =0.001), *04 (pc<0.001), -DQA1*03 (pc<0.001), and -DQB1*02 (pc =0.001) alleles were increased in patients with PGA. When dividing patients with Hashimoto's thyroiditis (HT) into those with PGA (PGA-HT) v…

Physiological incongruity of the humero-ulnar joint: a functional principle of optimized stress distribution acting upon articulating surfaces?

1993

Investigations into the distribution of subchondral bone density in the human elbow have suggested that the geometry of the trochlear notch deviates from a perfect fit with the trochlea, and that the load is transmitted ventrally and dorsally rather than through the centre of the humero-ulnar joint. We therefore decided to make a quantitative assessment of the degree of incongruity between the two components in 15 human specimens (age distribution 60 to 93 years) with different types of joint surface. Polyether casts of the joint cavity were prepared under loads of 10, 40, 160 and 640 N. The thickness of the casts was then measured at 50 predetermined points, and an area distribution of the…