Active clinical trials for "Neural Tube Defects"

The study objective is to assess the knowledge and the follow-up of vitamin B9 supplementation recommendations for women in the periconceptional period to prevent neural tube closure defects. It will be conducted with health professionnals and women who have just given birth in Rennes CHU. This study aimes to assess men's and women's knowledge of the need to take vitamin B9 supplementation in women in the periconceptional period and the reasons why this supplementation is carried out or not, in order to target our future prevention campaign. This will allow comparing the results before and after the prevention campaign.

Neural Tube Defects (NTDs) are multifactorial (genetic/environmental) diseases that arise from failure of embryonic neural tube closure. Several studies have demonstrated that periconceptional administration of folic acid can prevent approximately 70% of all NTDs cases. The finding of several NTDs cases in a single family, despite prophylactic therapy with folic acid, suggested that a proportion of human NTDs are folate-resistant. So far, no preventive therapy for folate-resistant NTDs is available. Studies performed on folate-resistant NTDs animal models have shown that inositol is effective in preventing NTDs occurrence. Preliminary results in patients with at least two previous pregnancies affected by NTDs, despite folic acid supplementation, indicate that periconceptional treatment with 500 mg/day of inositol (three months before conception and two months after) is able to prevent NTDs recurrence in humans. Recently, caffeine intake (more than 10 mg/day) has been associated with an increased risk of NTDs, especially for subgroups of people that carry genetic variants for enzymes involved in caffeine metabolism. The teratogenic effects of caffeine are known since the 70s. Indeed, gynecologists suggest to pregnant women to avoid/reduce caffeine intake. It is still unknown, however, whether pre-conception caffeine intake interferes with prophylactic therapy for NTDs. In the proposed study, we aim to evaluate the effect of "espresso" consumption (corresponding to about 100 mg caffeine) on the pharmacokinetics of oral administered myo-inositol (MI), in order to highlight any possible negative effects of caffeine on MI adsorption and excretion before conception. The study will consist of two phases and will be carried on twelve healthy volunteers. During phase 1, volunteers will be kept for 15 days under inositol-poor diet; at the end of this period, 20 g of MI will be administrated in a single dose. Basal levels of serum and urinary concentration will be evaluated before MI administration (t0); subsequently, sampling will be performed 2, 4, 6 and 8 hours after MI administration. Phase 2 will consist of 15 additional days of inositol-poor diet: basal levels of MI will be again measured before MI administration. In phase 2, MI administration will be concomitant to caffeine exposure through single"espresso" consumption. Samples will be collected at the same time points as in phase 1.

Researchers are using Myocardial performance index (MPI) to assess fetal cardiac function before, during, and after fetal surgery in order to gain more knowledge about fetal cardiac function in high risk pregnancies and the relationship to outcomes of fetal surgical interventions.

In a collaborative effort with the Health Research Board, the national organization for medical research in the Republic of Ireland, individuals with neural tube defects (NTDs) or facial cleft defects and their parents will be studied. With the exception of a few well-described syndromes most cases of NTDs and facial clefts are not inherited in a Mendelian fashion. Nearly all incident cases occur in families with no prior history of the defects. The observed recurrence risk in families with an NTD child is 10-12 fold higher than the general population suggesting that inherited factors modify this risk. Historically, the incidence of NTDs in Ireland was 5-8 fold higher than the USA. The aim of this study is to identify the gene(s) involved in these defects using standard genetic epidemiology approaches, transmission disequilibrium testing and gene mapping strategies. We will initially evaluate genes known to be involved in folate metabolism and pattern formation (development of the body). The major outcomes measured will be aggregate allele frequencies in case groups compared to controls. Biochemical parameters in red cells and plasma will also be measured. Comparisons will be made between the presence of genetics variants, biochemical parameters and clinical phenotype. Characterizing the genes associated with these defects should provide insight into the etiology and metabolic processes that may be involved, furthering prevention and intervention efforts.

In neurogenic or non-neurogenic bladder disorders, the removal process after the catheter is inserted into the bladder and the urine has been drained is called Clean intermittent catheterization (CIC). After 1972, Lapides started using CIC in the treatment of people who cannot empty their bladder on their own. The decision to apply CIC to patients is made by the doctor. After CIC application, patients's increase body image, self-confidence development and quality of life. CIC application to children is done by caregivers. CIC use has negative effects as well as positive effects for patients. If the caregiver has not received enough training about CIC application and does not pay attention to CIC performing hours and procedure steps, urinary tract infection can be seen in children. Common urinary tract infections in children cause permanent kidney damage. Studies conducted to prevent complications that may develop in patients using CIC emphasize the importance of patient education. The aim of this study is to evaluate the effect of based on the roy adaptation theory supported android phone application CIC training, on the knowledge / skills, coping / adaptation and anxiety level of caregivers and the development of urinary tract infection in children.

Brain stem and posterior fossa measurements in spina bifida aperta fetuses to compare them with normal population. Additionally, Describe the difference between pre- and postoperative findings.

We aimed to investigate whether Neutrophil Lymphocyte Ratio is a Prognostic Factor of Sepsis in Newborns with operated Neural Tube Defects?

The goal of this research study is to discover the genetic and environmental factors that contribute to the cause of neural tube defects such as spina bifida and anencephaly. Ultimately, this type of research may result in improved diagnosis, improved treatment and possibly prevention.

The purpose of this study is to determine if there is a difference in the short term response in serum folate after a single dose of folic acid in normal weight and obese women of childbearing age.

Introduction: Heavy metals important pollutants produced from anthropogenic activities, has been suggested to be embryotoxic and fetotoxic in a lot of studies. The aims of this study were to determine the levels of trace elements and heavy metals, namely folic acid, zinc (Zn), molybdenum (Mo), vanadium (V), strontium (Sr), aluminium (Al), tin (Sn), antimony (Sb), mercury (Hg), calcium (Ca), iron ( Fe), magnesium (Mg), phosphorus (P), barium (B) and selenium (Se), in the amniotic fluid of pregnant women, and to investigate their relationship with neural tube defects (NTDs). Methods: The study will be included 70 pregnant women whose fetuses were complicated with NTDs (study group) and 70 pregnant women with unaffected healthy fetuses (control group). The samples levels of elements and vitamins will be measured using inductively coupled plasma-mass spectrometry and will be compared between the two groups.