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Filter by:Introduction: Williams-Beuren syndrome is a rare genetic disorder caused by a 7q11.23 microdeletion. The phenotype associates vasculopathy (arterial stenosis, hypertension), dimorphism and intellectual disability. Microdeletion includes several genes: ELN encodes for elastin and the haplo-insufficiency (only 1 functional copy) causes vasculopathy. The primary objective is to quantify plasma and urinary levels of elastin peptides in Williams-Beuren patients and 7q11.23 micro-duplication syndrome patients in order to correlate the levels of these markers with the number of copies of ELN gene (proportional positive relationship "gene copy number - circulating levels of markers) Materials and Methods: This prospective study will be carried out in Lyon at the "Hôpital Femme-Mère-Enfant" for 2 years. 3 groups of patients will be studied: Williams-Beuren patients (N=20), micro-duplication 7q11.23 syndrome patients (N=10) and healthy patients (N=60). Subjects will be followed for 1 day. Clinical examination (weight, height, blood pressure) and biological sample collection (blood and urine sample) will be carry out for Williams Beuren and micro-duplication 7q11.23 patients group. A large majority of visits will be part of patients' usual care. A large part of patients are systematically seen in consultation once a year. For healthy group, only biological sample collection will be carry out. The PE concentrations will be assessed and compared between the three groups of patients.
This study will use a multi-center, prospective design, with a "Real World Study" model, to include 200 patients with nephrotic syndrome. based on the Population Pharmacokinetics (PPK) model, it will study genotype and clinical factors in patients with nephrotic syndrome, to explore the Pharmacokinetics/ Pharmacodynamics (PK/PD) relationship of Tacrolimus in patients with nephrotic syndrome, and develop an optimal medication regimen.
This study will examine the potential efficacy and safety of Rett-T for core motor deficits of Rett syndrome, and will explore biological markers of safety and treatment response.
This survey arises from one objective of a PhD thesis whose purpose is to "Identify what social skills people with Down syndrome have that do a routine activity and compare them with those developed by those SD people who perform sports activities."
The study aims to show inferiority of rivaroxaban plus ticagrelor when compared to rivaroxaban plus clopidogrel in terms of safety. Safety will be determined by comparing the rates of death or ischemic event-including myocardial infarction, definite or probable stent thrombosis, stroke, or urgent revascularization.
Polycystic ovary syndrome (PCOS) is a common endocrine disorder and a leading cause of infertility in women of reproductive age affecting up to 20% of them. Laparoscopic ovarian drilling (LOD) is considered a second-line treatment of infertile patients with clomiphene citrate-resistant (CCR) PCOS i.e. those who did not ovulate in response to CC doses of up to 150 mg for at least three consecutive cycles. The advantage of LOD is the induction of unifollicular ovulation without the risk of ovarian hyperstimulation syndrome or high-order multiple pregnancies. The common practice of LOD was to drill both ovaries i.e. bilateral (BLOD) with a fixed dose of 600 Joules per each ovary (1200 Joules in both) delivered through four punctures, each for 4 s and using 40 W. However, its main adverse effect is diminished ovary reserve due to tissue damage (2). In 1994, Balen and Jacobs reported the effectiveness of fixed-dose unilateral LOD (ULOD) in the management of those women. Subsequently, several randomized trials demonstrated its efficacy with comparable ovulation and pregnancy rates to BLOD. Recently, a new concept called"dose-adjusted" ULOD was proposed. It means to tailor the energy applied to one ovary, according to its preoperative volume using 60 J/ cm3. When compared with the fixed-dose BLOD among 96 infertile women with CCR- PCOS, a significantly higher ovulation rate during the first postoperative menstrual cycle was in favor of the ULOD group (73 vs. 49%). Meanwhile, a comparable ovulation rate over the 6-month period was found (82 vs. 64%) (6). In addition, both groups experienced a reduction in serum anti-mullerian hormone (AMH) level after LOD which was significantly more in the BLOD group in the first and the 6-month follow-up periods. However, another RCT (n=108 CCR- PCOS patients) reported a comparable ovulation and pregnancy rates at 3-month follow-up period (65.4 vs. 77.3% and 15.4 vs. 26.4%, in ULOD and BLOD respectively) with a reduction in the effectiveness of dose-adjusted ULOD after 6 months. A highly significant difference between ULOD and BLOD groups with regard to the AMH level at 3- and 6-month was also reported. Thereby, the efficacy of dose-adjusted ULOD in improving fertility outcomes in infertile women with CCR- PCOS as well as its effect on ovarian reserve warrants more investigation.
It was proposed to the French Association of Rett Syndrome (AFSR) to perform an extensive biological assessment in a series of 100 girls with Rett's syndrome and carriers of a mutation in the MECP2 gene in order to confirm or confirm to reverse the abnormalities identified previously and possibly, to highlight new biomarkers of the pathology. The analysis will focus on classical hematological criteria, iron markers, endocrine assays, lipid quantification and markers of inflammation. At the end of the project, each family will receive the complete biological assessment carried out on their daughter which will represent a direct benefit of the implication in this clinical research project.
Polycystic ovary syndrome (PCOS) patients are often accompanied by infertility. Non-obese PCOS infertility is more difficult to treat than obese PCOS. The study included non-obese PCOS patients who had not recovered from regular menstruation after six months of metformin treatment. Half of the patients were treated with clomiphene for ovulation induction and half with GnRH pulse therapy.
In order to best meet the needs of all those affected by the genetic risk of cancer in our region, it is important to identify the factors likely to influence the course leading to the GENEPY surveillance network. The aim of this study is to evaluatie the adhesion to the network of care of people at genetic risk of cancer in Midi-Pyrénées (GENEPY).
We hypothesize that combined critical care ultrasound and PAC monitoring-oriented therapy protocol (CUP protocol), would improve prognosis of patients of ARDS with right ventricular dysfunction. Therefore, the overall goal of the study is: 1) To build the combined critical care ultrasound and PAC monitoring-oriented therapy protocol （CUP Protocol）in detail for patients of ARDS with RV dysfunction. Advantage of CUP protocol is that it directly aims at key parameters that we need for the prevention and treatment of such patients; we could improve the mechanical ventilation protocol, unequal pulmonary lesions, hemodynamics management and reduce pulmonary artery pressure according to these parameters, so that to improve the prognosis of the patients.2) To verify the value of CUP Protocol in ARDS with ACP.