Active clinical trials for "Spinal Dysraphism"

The purpose of this study is to assess and explain (at least apart) anorectal disorders of patients with Spina Bifida by an automatic neuropathy responsive of enteric nervous system and epithelial barrier dysfunctions. The investigators' aim hypothetics is that autonomic neuropathy of patients with Spina Bifida induce enteric nervous sytem and epithelial barrier dysfunctions which explain anorectal disorders of these patients. Thexpect to show a decreased of 5% of enteric neurons per ganglia.

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.

The correct timing and technique of neural tube defect (NTD) repairs significantly decreases the morbidity and mortality of NTD cases. However, infections related to the surgery are still common. We investigated the effects of topical rifampicin (RIF) combined with routine prophylaxis in newborns with open NTD.

The purpose of this study is to investigate the level of functional independence and the quality of life of adolescents and young adults with spina bifid in an Italian population.

Neural tube defects (NTD), which is the most common anomaly of the central nervous system, which can be diagnosed during antenatal period, brings many problems both in the neonatal period and in advanced ages. Open neural tube defects, in particular, progress with sensory-motor deficits due to the risk of infection and neural tissue loss from birth, and should be followed closely from the neonatal period. Newborns born with a neural tube defect should be operated within the first 72 hours postnatal and the defect should be closed. In this hospital, newborns with NTD are monitored in our neonatal surgery intensive care unit before and after surgery. Neonatal specialists, neurosurgeons and other specialists when there is an additional anomaly evaluate the baby as multidisciplinary. In this project, the short-term follow-up data of babies with NTD who have been followed up in this neonatal surgery intensive care unit for the last fifteen years will be evaluated retrospectively.

The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying gene-environment interactions.

The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and environmental factors that contribute to Neural Tube Defects (NTD). Our research goal is to better understand the genetic and environmental causes of both open NTD, like spina bifida and anencephaly, and closed NTD, like lipomeningocele and tethered cord. This will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, and better prevention methods. Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing. Participation is free. Travel is not required. Participation involves reading and signing a consent form, providing a blood sample, a family and medical history interview, and granting the research staff permission to review the medical records of the individual(s) with NTD. We maintain the highest standards of confidentiality for all families. If interested, please contact Maria Ciliberti, the study coordinator, at 1-877-686-6444 (toll free) or directly at 305-243-4360, or by email Mciliberti@med.miami.edu . Please visit our web site at www.hihg.org for more information.

Neural tube defects cover a group of severe embryo malformations such as anencephaly and spina bifida. The most severe forms of spina bifida causes numerous disabilities that demand lifelong treatment by a team consisting of primarily neurosurgeons, pediatricians, obstetricians, pediatric neurologists, pediatric urologists, gastroenterologists, psychologists and social workers. The disabilities involve morbidity such as decreased motor and sensory function caudal to the lesion, hydrocephalus, scoliosis, bladder and bowel incontinence as well as increased mortality. In 2004, the Danish Health Authorities introduced new guidelines for fetal diagnostics. These represented a change of paradigm stating that all pregnant women should be offered a prenatal examination including an ultra sound scan in week 12-13 of gestation (including risk estimation of chromosomal diseases) as well as in week 19 of gestation (scanning primarily for malformations). The examination program was not elaborated to eradicate diseases but to support the reproductive autonomy of the pregnant women, including the possibility to seek for termination of the pregnancy in the case of severe disease in the fetus. Severe spina bifida is one of the malformations that can be diagnosed with the ultra sound scan in week 19, and since the implementation of the new guidelines from the Danish Health Authority a study by this research group has shown decreased birth incidence at least in the Western part of Denmark. It is still unknown what has caused this decrease as is the exact number of pregnancies and births complicated by spina bifida in the child; similarly it is unclear whether this decline is a regional or if it is only a Danish phenomenon. By extraction of data from the Danish Fetal Database ("FØTOdatabasen") which includes information of all 60.000 pregnancies in Denmark annually, the purpose of this register study is to investigate the incidence of pregnancies complicated by prenatal diagnosis of spina bifida in Denmark from 2008 and on, as well as the pregnancy outcome in these cases (including termination of pregnancy). Furthermore results will be compared to results obtained by collaborative partners in Sweden and hopefully also in Saudi Arabia.

Spina Bifida can lead to physical neurocognitive and psychological symptoms. Still little is know about the daily impact of spina bifida on participation possibilities in social life. This exploratory research project want to investigate which lif choices patients with spina bifida has to make and in which way their daily life is organized. In a second part, quality of life will be measured and we hope to discover some dynamics in order to improve patient care.

Purpose: In order to verify the hypothesis that the composition of intestinal microbiota in children with spina bifida is different from that of normal control, prospective comparative analysis would be performed. Background of the study: Spina bifida is a congenital neurological disorder, causing neurogenic bowel. It has been known that the intestinal microbiota in spinal cord injury patient was different than that of control. Changes in intestinal motility, mucous secretion, immune surveillance, and epithelial barrier permeability are possible causes of this change. As spina bifida is also related with neurogenic bowel, the investigators hypothesized that the intestinal microbiota in spina bifida is different from that of normal control. Patients total 30 patients and 10 controls Inclusion for patients Patients who meet following conditions: 1) Children over 3 years old and under 12 years old who have been diagnosed with spinal bifida with spinal MRI Exclusion for patients and controls 1) Children with known inflammatory bowel disease or cloacal anomaly Statistical analysis Statistical processing for fecal samples is aimed at alpha or beta diversity using bioinformatics, and the Kruskal-Wallis test is used to compare similarities or differences between each fecal sample. Prior to statistical analysis, the relative abundance of the detected microorganisms is analyzed first, and microorganisms having a distribution less than 0.1% are excluded from the analysis, and the remaining microorganisms are analyzed in the 'genus' step.