
Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Usher SyndromeThis study aims to characterize Usher patients in order to correlate this data with genetic information. Tasks: Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect. Perform genotype and phenotype correlations in Usher syndrome patients Develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials

MEPHISTO (Macrophage Phenotype In Metabolic Syndrome With Iron Overload)
Dysmetabolic Iron Overload SyndromeMetabolic Syndrome XDysmetabolic iron overload syndrome (DIOS), is a frequent hepatic iron overload associated with metabolic syndrome. We hypothesize that this mild iron overload can induce a increased macrophagic polarization towards inflammatory types, thereby contributing to cardiovascular risk. Our main objective is to highlight the influence of iron overload on polarization capacity of monocytes into alternative macrophages (called M2). We therefore compare phenotypic markers of monocytes/macrophages between subjects with DIOS, metabolic syndrome without iron overload and lean subjects.

Long Acting GnRH Antagonist in PCOS Women Undergoing IVF
Polycystic Ovarian SyndromeOvarian Hyperstimulation Syndrome1 morePCOS is a common endocrinopathy affecting 5-10% of women in their reproductive age characterized by hyperandrogenism, chronic anovulation and polycystic ovaries. This syndrome is a serious problem in IVF since there is a high risk of developing ovarian hyperstimulation syndrome (OHSS) during ovarian stimulation with gonadotropins. The introduction of GnRH antagonist in IVF has reduced the incidence of severe OHSS, still maintaining a good ovarian response and pregnancy rate. Recently, a long acting GnRH antagonist, Degarelix, was introduced for prostatic cancer treatment. Furthermore a recent paper reported its use also for the induction of multiple follicular growth in a program of oocyte donation. The aim of this study is to evaluate the feasibility of GnRH antagonist depot use in a protocol of controlled ovarian hyperstimulation in PCOS women at risk of developing OHSS in IVF cycles.

The Mechanism of TCF7L2 and SLC30A8 on Antipsychotic-induced Metabolic Syndrome
SchizophreniaMetabolic SyndromeAlmost all of antipsychotics can induce metabolic syndrome,Genetic factors play a key role in the development of metabolic syndrome,TCF7L2 and SLC30A8 are strongestly correlated with metabolic syndrome.Moreover,Antipsychotics have an effect on the expression of TCF7L2 and SLC30A8 genes.It indicates the variations of TCF7L2 and SLC30A8 play an important part in the development of antipsychotics-induced metabolic syndrome.

Subclinical Organ Damage in Overweight and Obese Patients: Does Presence of Metabolic Syndrome Matter?...
Metabolic SyndromeSubclinical Organ Damage2 moreMicroalbuminuria and homocysteine levels are shown to be markers for endothelial dysfunction and subclinical organ damage and predictors of cardiovascular risk in several epidemiologic and randomized clinical trials. Carotis intima-media thickness is also found to be elevated in early stages of atherosclerosis. Recent studies have shown correlations between homocysteine, microalbumin levels and carotis intima-media thickness in type 2 diabetics but no data exists for obese or overweight patients who also have metabolic syndrome, in terms of markers of subclinical organ damage. Since obesity is a risk factor for cardiovascular disease and since it is known that patients with metabolic syndrome are at higher risk of cardiovascular events, the investigators wanted to examine whether there is an association between homocysteine, microalbumin levels and carotid intima-media thickness in patients with or without metabolic syndrome, who are either overweight or obese.

Lactulose and Glucose Breath Tests as Predictors of Clinical Benefit From Rifaximin in Irritable...
Irritable Bowel SyndromeThe Irritable Bowel Syndrome (IBS) is a frequent disease, affecting between 10 and 20% of general population. Several pathophysiologic mechanisms have been described in IBS, among them the role of intestinal microbiota and small intestinal bacterial overgrowth (SIBO) have received special attention. SIBO has an adequate response to antibiotic treatment, unfortunately it didn't have an adequate diagnostic test: The classic gold standard -jejunal aspirate culture- has been criticized due to lack of standardization; the breath tests are simpler and widely available, but they have also been criticized due to inadequate diagnostic accuracy for SIBO. For this reason seems important to evaluate the performance of breath tests in terms of predicting clinical benefit of antibiotic therapy in IBS patients, rather than predicting a positive culture and SIBO. The objectives of this study are: Determine which breath test (lactulose or glucose) predicts better a potential clinical benefit of antibiotic treatment (Rifaximin) in IBS patients. Determine which of the multiples diagnostic criteria described for the lactulose breath test predicts better a potential clinical benefit Rifaximin in IBS patients.

A Realworld Study of Acute Respiratory Distress Syndrome in China
Acute Respiratory Distress SyndromeARDS is a critical respiratory disease caused by endogenous and exogenous factors. The mortality of ARDS varies from 30 to 70%. In 2012, a new international diagnostic criterion has been put forward. Yet, its feasibility, reliability and validity need to be tested. Meanwhile, the correlation of different severity and prognosis remains unclear. As so far, the epidemiological information about ARDS in China is lacking. Investigators plan to conduct a multi-center observational study(real-life study) to investigate the risk factors, morbidity, management and prognosis of ARDS in China, in order to facilitate standardization of diagnosis and management of ARDS and provide basic data and idea for further clinical intervention studies.

The Impact of Obstructive Sleep Apnoea in Women With Polycystic Ovary Syndrome.
Polycystic Ovary SyndromeObstructive Sleep ApneaWomen with PCOS and OSA, compared to women with PCOS only, have more severe clinical and biochemical features of PCOS and impaired QoL. This is an observational cross-sectional study in a secondary care PCOS clinic in the WISDEM Centre, University Hospital Coventry. The primary aim of this study is to examine the relationship between OSA and impaired QoL in women with PCOS. Study secondary outcomes are to examine the relationship between OSA and the clinical and biochemical features in women with PCOS.

Effects of a High or Low Salycilate Diet on Urinary LTE4 and Clinical Features in AERD
Aspirin-exacerbated Respiratory DiseaseAspirin-Sensitive Asthma With Nasal Polyps2 moreOn day one, two groups of nine patients each will respectively recieve the tree daily meals (breakfast, Lunch and dinner) in a controled clinical setting. Group 1 will recieve a low-salycilate diet, and group 2 a high-salycilate diet. Two hours after each meal, urinary Leucotriene E4, FEV1, FVC, FEV1/FVC and total nasal resistance will be measured. On day 7, after clearance time, group 1 will recieve high-salycilate diet and group 2 low salycilate diet and the same measurements will be obtained.

Genetic Variants and Oxidative Stress as Links Between Periodontitis and Metabolic Syndrome
PeriodontitisAdult1 moreThe aim of this study is to investigate the systemic impact of periodontitis in patients with Metabolic Syndrome, by assessing measures of sub-clinical atherosclerosis and cardiovascular risk, microbial factors and host genetic variants, and to study the possible effect of mediators of inflammation and oxidative stress as links between the two conditions.