|
| ||
|
|
||
Bifida
Kinds of Bifida Terms modified by Bifida Selected AbstractsStudy of Botulinum Toxin A in Neurogenic Bladder Due to Spina Bifida in ChildrenANZ JOURNAL OF SURGERY, Issue 4 2010Aniruddh V. Deshpande Abstract Background:, We report results of a pilot study investigating the safety and efficacy of Botulinum A toxin on urinary incontinence and bladder function in children with neurogenic bladder. Methods:, This was a prospective, non-randomized clinical trial. Seven children with median age of 16 years with spina bifida who had high storage pressures, poor bladder compliance and had failed treatment with anticholinergic medications were offered a single intra-detrusor injection of Botulinum A toxin. All subjects were on clean intermittent catheterization before and during the study. Follow-up videourodynamic studies were performed at 1 month, between 3 and 6 months, and at 9 months. Data were collected on safety and on subjective outcomes through validated questionnaires filled out by patients at each visit. Results:, In majority of the patients (5/7), the injection produced an increase in bladder compliance (P < 0.05) and an improvement in incontinence (P < 0.05) at 1-month follow-up. However, in two patients whose baseline bladder capacity was markedly reduced (<200 mL), the improvement was very minimal. The beneficial effects in bladder compliance and incontinence dissipated by 9 months. The changes in subjective outcomes (incontinence and satisfaction scores) did not parallel the changes in urodynamics through the study period. No side effects of Botulinum toxin were seen. Conclusion:, Botulinum A toxin injection produces beneficial urodynamics and clinical effects. These beneficial effects last for approximately 9 months. There is a poor correlation between improvement in the urodynamics and the subjective outcomes. Botulinum A toxin injection is a safe alternative treatment for patients with spina bifida and a neurogenic bladder. [source] Etiology, pathogenesis and prevention of neural tube defectsCONGENITAL ANOMALIES, Issue 2 2006Rengasamy Padmanabhan ABSTRACT Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed neural tube defects (NTD). Failure of closure of the neural tube during development results in anencephaly or spina bifida aperta but encephaloceles are possibly post-closure defects. NTD are associated with a number of other central nervous system (CNS) and non-neural malformations. Racial, geographic and seasonal variations seem to affect their incidence. Etiology of NTD is unknown. Most of the non-syndromic NTD are of multifactorial origin. Recent in vitro and in vivo studies have highlighted the molecular mechanisms of neurulation in vertebrates but the morphologic development of human neural tube is poorly understood. A multisite closure theory, extrapolated directly from mouse experiments highlighted the clinical relevance of closure mechanisms to human NTD. Animal models, such as circle tail, curly tail, loop tail, shrm and numerous knockouts provide some insight into the mechanisms of NTD. Also available in the literature are a plethora of chemically induced preclosure and a few post-closure models of NTD, which highlight the fact that CNS malformations are of hetergeneitic nature. No Mendelian pattern of inheritance has been reported. Association with single gene defects, enhanced recurrence risk among siblings, and a higher frequency in twins than in singletons indicate the presence of a strong genetic contribution to the etiology of NTD. Non-availability of families with a significant number of NTD cases makes research into genetic causation of NTD difficult. Case reports and epidemiologic studies have implicated a number of chemicals, widely differing therapeutic drugs, environmental contaminants, pollutants, infectious agents, and solvents. Maternal hyperthermia, use of valproate by epileptic women during pregnancy, deficiency and excess of certain nutrients and chronic maternal diseases (e.g. diabetes mellitus) are reported to cause a manifold increase in the incidence of NTD. A host of suspected teratogens are also available in the literature. The UK and Hungarian studies showed that periconceptional supplementation of women with folate (FA) reduces significantly both the first occurrence and recurrence of NTD in the offspring. This led to mandatory periconceptional FA supplementation in a number of countries. Encouraged by the results of clinical studies, numerous laboratory investigations focused on the genes involved in the FA, vitamin B12 and homocysteine metabolism during neural tube development. As of today no clinical or experimental study has provided unequivocal evidence for a definitive role for any of these genes in the causation of NTD suggesting that a multitude of genes, growth factors and receptors interact in controlling neural tube development by yet unknown mechanisms. Future studies must address issues of gene-gene, gene-nutrient and gene,environment interactions in the pathogenesis of NTD. [source] Valproic acid-induced congenital malformations: Clinical and experimental observationsCONGENITAL ANOMALIES, Issue 4 2000R. Padmanabhan ABSTRACT With a large number of epileptic women being in the childbearing age group, complications of pregnancy in epileptic patients are of concern. Epileptic women are treated with antiepileptic drugs (AED) whether they are pregnant or not. Contrary to prevailing opinion, recent data suggest that epilepsy per se contributes significantly to birth defects possibly because of the same genetic susceptibility that predisposes to epilepsy. Many of these defects closely resemble those attributed to exposure to AED. The syndromes attributed to various AED also considerably overlap with each other. Valproic acid (VPA) induces several minor and major malformations. The relative risk for spina bifida in VPA exposed pregnancies is nearly 20 times higher than that for the general population and about 10 times higher than that attributed to other anticonvulsants. Fetuses of experimental animals treated with VPA during pregnancy exhibit exencephaly unlike the human offspring in whom VPA induces spina bifida. The cranial and spinal malformations observed in humans and laboratory animals indicate that VPA has a preferentially deleterious effect on the neural crest. Several AEDs including VPA tend to lower maternal plasma folate levels. In view of the beneficial effects of periconceptional folate supplementation in prevention of neural tube defects (NTD), future research should be directed at the role of folate in the possible alleviation of VPA-induced NTD. It is also necessary to continue prospective studies to monitor the old and new AED prescribed and to evaluate the role of interactions between drugs used in combinations. [source] Latex allergy: diagnosis and managementDERMATOLOGIC THERAPY, Issue 4 2004James S. Taylor ABSTRACT:, Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. Major allergens include dipped latex products such as gloves and balloons. In highest risk for NRL allergy are patients with spina bifida, but health care workers and others who wear latex gloves are also at risk. NRL allergic patients may also react to fruits/foods, especially banana, kiwi, and avocado. Diagnosis is made by a positive latex RAST and/or skin prick test or challenge test to NRL. Allergen avoidance and substitution and the use of latex-safe devices including synthetic gloves (vinyl, synthetic polyisoprene, neoprene, nitrile, block polymers, or polyurethane) are essential for the affected patient. Accommodation in the workplace may include the use of powder-free, low-allergen NRL gloves or synthetic gloves. These preventive measures have significantly reduced the prevalence of reported reactions to NRL. Hyposensitization is not yet feasible. [source] Mathematical development in spina bifidaDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2009Lianne H. English Abstract Spina bifida (SB) is a neural tube defect diagnosed before or at birth that is associated with a high incidence of math disability often without co-occurring difficulties in reading. SB provides an interesting population within which to examine the development of mathematical abilities and disability across the lifespan and in relation to the deficits in visual-spatial processing that are also associated with the disorder. An overview of math and its cognitive correlates in preschoolers, school-age children and adults with SB is presented including the findings from a longitudinal study linking early executive functions in infancy to the development of later preschool and school age math skills. These findings are discussed in relation to socio-historical perspectives on math education and implications for intervention and directions for further research are presented. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:28,34. [source] Orthopaedic care in spina bifida: past, present, and futureDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 9 2004Luciano Dias No abstract is available for this article. [source] Teratogenic Effects of Antiepileptic Drugs: Use of an International Database on Malformations and Drug Exposure (MADRE)EPILEPSIA, Issue 11 2000Carla Arpino Summary: Purpose: The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. Methods: Information on all malformed infants (1990,1996) with maternal first-trimester drug exposure was collected by the International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were defined as infants presenting with a specific malformation, and controls were defined as infants presenting with any other birth defect. Exposure was defined by the use of AEDs during the first trimester of pregnancy. The association of AEDs with malformations was then estimated by calculating the odds ratios with 95% confidence intervals and testing their homogeneity among registries. Results: Among 8005 cases of malformations, 299 infants were exposed in utero to AEDs. Of those exposed to monotherapy, 65 were exposed to phenobarbital, 10 to methylphenobarbital, 80 to valproic acid, 46 to carbamazepine, 24 to phenytoin, and 16 to other AEDs. Associations were found for spina bifida with valproic acid. Infants exposed to phenobarbital and to methylphenobarbital showed an increased risk of oral clefts. Cardiac malformations were found to be associated with phenobarbital, methylphenobarbital, valproic acid, and carbamazepine. Hypospadias was associated with valproic acid. Porencephaly and other specified anomalies of brain, anomalies of face, coarctation of aorta, and limb reduction defects were found to be associated with valproic acid. Conclusions: Using the MADRE system, we confirmed known teratogenic effects of AEDs. We also found increased risks for malformations that had never been reported associated with AEDs or for which the association was suggested by case reports. [source] ,Balance' is in the eye of the beholder: providing information to support informed choices in antenatal screening via Antenatal Screening Web ResourceHEALTH EXPECTATIONS, Issue 4 2007Shenaz Ahmed BSc (Hons) PhD Abstract Objectives, The Antenatal Screening Web Resource (AnSWeR) was designed to support informed prenatal testing choices by providing balanced information about disability, based on the testimonies of disabled people and their families. We were commissioned by the developers to independently evaluate the website. This paper focused on how participants evaluated AnSWeR in terms of providing balanced information. Setting, West Yorkshire. Participants, A total of 69 people were drawn from three groups: health professionals, people with personal experience of tested-for conditions (Down's syndrome, cystic fibrosis and spina bifida) and people representing potential users of the resource. Method, Data were collected via focus groups and electronic questionnaires. Results, Participants believed that information about the experience of living with the tested-for conditions and terminating a pregnancy for the conditions were important to support informed antenatal testing and termination decisions. However, there were differences in opinion about whether the information about the tested-for conditions was balanced or not. Some people felt that the inclusion of photographs of people with the tested-for conditions introduced biases (both positive and negative). Many participants were also of the opinion that AnSWeR presented insufficient information on termination of an affected pregnancy to support informed choice. Conclusion, This study highlighted the difficulty of designing ,balanced' information about tested-for conditions and a lack of methodology for doing so. It is suggested that AnSWeR currently provides a counterbalance to other websites that focus on the medical aspects of disability. Its aim to provide ,balanced' information would be aided by increasing the number and range of case studies available on the website. [source] Dental management of children with latex allergyINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 5 2001S. M. Hashim Nainar Summary. This paper reviews the aetiology, epidemiology and dental management of children with latex allergy. The issue of latex allergy has serious consequences for the dental management of children with one or more of the following risk factors: spina bifida, atopy, first surgery before one year of age, history of multiple surgical procedures, congenital urologic abnormalities, gastrointestinal malformations, hydrocephalus internus, ventriculo-peritoneal shunts, spinal cord injuries, and family history of atopy. Management of latex allergy is based upon the diligent avoidance of latex exposure. Universal use of powder-free low-allergen latex gloves is recommended. [source] The role of retinoic acid in the morphogenesis of the neural tubeJOURNAL OF ANATOMY, Issue 4 2003L. Wilson Abstract We have examined the role of the signalling molecule, retinoic acid, in the process of neurulation and the subsequent growth and differentiation of the central nervous system using quail embryos that have developed in the absence of retinoic acid. Such retinoic acid-free embryos undergo abnormal neural tube formation in terms of its shape and structure, but the embryos do not display spina bifida or exencephaly. The neural tubes have a wider floor plate, a thicker roof plate and a different dorsoventral shape. Phalloidin staining and electron microscopy revealed alterations in the actin filaments and the junctional complexes of the cell layer lining the lumen. Initially the neural tubes proliferated at the same rate as normal, but later the proliferation rate declined drastically and neuronal differentiation was highly deficient. There were very few motoneurons extending neurites into the periphery, and within the neural tube axon trajectories were chaotic. These results reveal several functions for retinoic acid in the morphogenesis and growth of the neural tube, many of which can be explained by defective notochord signalling, but they do not suggest that this molecule plays a role in neural tube closure. [source] The Impact of Personal Characteristics of People with Intellectual and Developmental Disability on Self-determination and Autonomous FunctioningJOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 4 2003Michael L. Wehmeyer Background, Many people assume that the presence of an intellectual disability precludes a person from becoming self-determined. Recent research, however, has suggested that the environments in which people live, learn, work or play may play a more important role in promoting self-determination then do personal characteristics of the person, including level of intelligence. Methods, This study examined the self-determination and autonomous functioning of 301 adults with intellectual disability or a developmental disability without concomitant intellectual impairments (e.g. persons with cerebral palsy, epilepsy and spina bifida) as a function of personal characteristics of individuals. Results, Intellectual capacity was not a significant contributor to either self-determination or autonomous functioning for this group. Opportunities to make choices, however, contributed significantly and positively to greater self-determination and autonomy. Intelligence scores did, however, predict whether the person worked or lived in more or less restrictive settings, though for the latter, both self-determination and autonomous functioning also contributed significantly. Conclusions, These findings are discussed with regard to the role of personal characteristics, particularly intelligence level, in promoting self-determination and more positive adult outcomes. [source] 1H magnetic resonance spectroscopy in human hydrocephalusJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 3 2003Kees P.J. Braun MD Abstract Purpose To evaluate cerebral metabolism in clinical hydrocephalus with 1H magnetic resonance spectroscopy (MRS). Materials and Methods In 24 children and adults with progressive, arrested, or normal pressure hydrocephalus, long-echo time 1H MR spectra were acquired from periventricular white matter and intraventricular cerebrospinal fluid (CSF). Metabolite ratios, and the presence of lactate, were compared with 38 age-matched controls. Results Metabolite ratios of patients were within the 95% confidence interval (CI) of controls. A small lactate resonance was detected in 20% of control and hydrocephalic subjects. Lactate was consistently visible in CSF spectra, though lactate concentrations were normal. The CSF lactate T2 was long in comparison with the known intracellular metabolite T2 relaxation times. In three neonates with hydrocephalus and spina bifida, 3-hydroxybutyrate was detected in CSF in vivo. Conclusion Within the limits of the present methods, 1H MRS could not detect cerebral metabolic abnormalities in human hydrocephalus and provided no additional diagnostic information. The long T2 of lactate in CSF explains its high visibility. Hence, the detection of lactate in spectra acquired from voxels that contain CSF does not necessarily imply cerebral ischemia. J. Magn. Reson. Imaging 2003;17:291,299. © 2003 Wiley-Liss, Inc. [source] Transition in chronic illness: Who is going where?JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 9 2008Katharine S Steinbeck Aim: With increasing survival rates for chronic childhood illness, there has been an increasing focus on the transition of clinical care from paediatric to adult services. Data regarding patient numbers are essential for strategic planning and for optimal management. We report on a data collection exercise from the New South Wales Greater Metropolitan Clinical Taskforce Transition Program. Methods: Data were collected between August 2004 and October 2005 through face-to-face interviews with over 200 clinicians in 68 clinical services in tertiary paediatric hospitals in New South Wales, providing information on approximately 4200 patients. Results: Sixty-eight services kept a database on patients with chronic illness but less than half were electronic. Eight services (12%) could specifically identify patients in the active phase of transition on their databases. The five most prevalent clinical groups requiring transition to adult specialist health care (excluding cerebral palsy and developmental disability) were diabetes, other endocrinology, neurology, spina bifida and gastroenterology. Conclusions: There are large numbers of young people with chronic illness and disability who need effective transition to long-term adult care. This study has enabled the identification of paediatric aspects of the transition process that require attention. [source] Spinal arachnoid pseudocysts in 10 rottweilersJOURNAL OF SMALL ANIMAL PRACTICE, Issue 1 2004K. Jurina Ten rottweilers presenting with spinal arachnoid pseudocysts were investigated. In six dogs, the lesions were localised dorsally at C2-C3; in three dogs, dorsally and ventrally at C5-C6; and, in one dog, dorsally and ventrally at C6-C7. Clinical signs were consistent with focal compression of the affected spinal cord segments. The animals showed ataxia of all four limbs, with truncal ataxia and marked hypermetria in cases of C2-C3 involvement, or ambulatory tetraparesis in cases of C5-C6 or C6-C7 involvement. Other than signs indicative of spina bifida in one dog, no abnormalities could detected on plain radiographs. Myelography was used to define the localisation and extent of the pseudocysts. Additional information was obtained using magnetic resonance imaging in five dogs. Five dogs underwent a dorsal laminectomy; in three cases, the pseudocyst was treated by marsupialisation and, in two, by durectomy. [source] Labor analgesia for the parturient with spina bifidaACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 7 2007K. M. Kuczkowski No abstract is available for this article. [source] Basophil Activation Test and specific IgE measurements using a panel of recombinant natural rubber latex allergens to determine the latex allergen sensitization profile in childrenPEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 2 2006Marķa L. Sanz There are no documented studies that describe natural rubber latex (NRL) sensitization in children with a history of surgical intervention but without any congenital malformation (urogenital anomalies, spina bifida, etc.), although some authors have studied NRL allergy in children without a history of surgical intervention. The aim of this work was to evaluate the sensitization profile to single NRL allergens in children without spina bifida and without repeated surgical interventions, by using different recombinant and natural latex allergens in two analytical techniques: specific serum immunoglobulin E (IgE) quantification and flow cytometry determination of activated basophils expressing CD63, after stimulating cells from patients with NRL allergens. A total of 23 patients and 10 healthy children were selected. Conjunctival and in-use NRL provocation tests were carried out, as well as specific IgE determination in all patients' and controls' sera with the recombinant NRL allergens: rHev b 1, rHev b 2, rHev b 3, rHev b 5, rHev b 6.01, rHev b 6.02, rHev b 8, rHev b 9 and rHev b 11 and with NRL (k82) using appropriate ImmunoCAPs. The Basophil Activation Test (BAT) was performed with whole latex extract and with the recombinant allergens rHev b 5 and rHev b 6.01, as well as with the natural allergen Hev b 6.02. The sensitivity and the specificity of NRL-specific IgE (k82) were 100%. Positive IgE responses to rHev b 5 were found in sera of 10 children, to rHev b 6.01 in 16 and for rHev b 6.02 in 15 children's sera. Specific IgE to rHev b 8 was found in four sera of the children. We only found significant differences in sensitization to rHev b 5 in children with two or more surgical interventions compared with the non-intervened group or those with only one intervention. Specific IgE in sera of children with latex-fruit syndrome recognized rHev b 6.02, but not to rHev b 11. The patients sensitized to Hev b 8, Hev b 9 and/or Hev b 11 were atopic. The four patients presenting a positive response to the NRL profilin Hev b 8 were allergic to pollen. The BAT against whole NRL extract was positive in 22 of 23 children; against rHev b 5 in 14 of the patients studied; against rHev b 6.01 in seven cases and against nHev b 6.02 in 19 children. In all the control subjects, the results using this technique were negative. If combined rHev b 5, rHev b 6.01 and nHev b 6.02 together, BAT could detect 20 of the 23 children with latex allergy. The combined use of ImmunoCAP with all the recombinant NRL allergens and BAT with rHev b 5, rHev b 6.01 and nHev b 6.02, enabled the identification of NRL allergy in 22 of 23 patients. There is a positive and significant correlation between sensitization to Hev b 5 and the number of interventions. BAT and allergen-specific IgE determination could be used as first-line in vitro diagnostic tests in patients with NRL allergy. [source] Patterns of latex allergen recognition in children sensitized to natural rubber latexPEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 1 2006Rafael Pamies Single recombinant latex allergens permit the study of the pattern of sensitization to individual allergens. We aimed to quantify the IgE-response to individual latex allergens in children sensitized to latex. The study group included 31 latex-sensitized children: 26 operated at least twice, 20 of them with spina bifida; two children with one operation and three atopic non-operated children. IgE antibodies to rHev b 1, rHev b 3, rHev b 5, rHev b 6.01, rHev b 7.02 and rHev b 8, coupled to ImmunoCAPs, were measured in each serum. IgE responses to rHev b 1, rHev b 5 and rHev b 6.01 were found in 17 children each, and their mean ± s.d. levels were 5 ± 7.4, 16.8 ± 14 and 10 ± 18 kU/l, respectively. IgE responses to rHev b 3 (4 ± 5.4 kU/l) were found in eight children. Two children had IgE to rHev b 7 (1.7 and 3.2 kU/l), and none to rHev b 8. Four sera were negative to all tested recombinant allergens. We divided the patients in three groups: sensitized only to rHev b 1, sensitized only to rHev b 5 and/or rHev b 6.01, and sensitized to both rHev b 1 and to rHev b 5 and/or rHev b 6.01. The three groups had the same profile of clinical features. Hev b 5 induces the quantitatively higher IgE responses in children with multiple surgeries sensitized to latex. Responses to Hev b 6.01 equal those of Hev b 1. [source] Ventricular shunts and the prevalence of sensitization and clinically relevant allergy to latex in patients with spina bifidaPEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 2 2000Dietke Buck Patients with spina bifida represent the highest-risk group for developing hypersensitivity to latex. Recognized risk factors for these patients are repeated surgery and an atopic disposition. Our aim was to study the influence of a ventricular shunt as an independent risk factor. One hundred and sixty-one patients with spina bifida (median age 10 years) were investigated for the presence of a shunting device and the number, type and date of previous surgical interventions. Additionally, skin-prick tests and provocation tests were performed in order to classify sensitized and symptomatic latex-allergic individuals. Eighty-eight patients (54.7%) were sensitized; 55 (34.2%) were provocation-positive. Patients with a shunt system had undergone a significantly higher number of surgical procedures (p < 0.0001) and showed significantly higher levels of immunoglobulin E (IgE)-antibodies to latex (p < 0.0001) than patients without a shunting device. The total number of operations correlated significantly with the level of IgE-antibodies to latex in serum (p < 0.0001), whereas the number of shunt operations in patients with a ventricular shunt did not significantly correlate with the degree of sensitization. In conclusion, patients with spina bifida who have a ventricular shunt are at particularly high risk because they undergo a significantly higher number of operations than patients without a ventricular shunt. However, the ventricular shunt does not seem to be an independent risk factor. Furthermore, this study emphasizes that individuals at high risk, such as patients with spina bifida, should be handled latex-free from the very beginning of life. [source] Infant leukemia and congenital abnormalities: A Children's Oncology Group study,PEDIATRIC BLOOD & CANCER, Issue 1 2010Kimberly J. Johnson PhD Abstract Background Leukemia in infants is rare and has not been well studied apart from leukemia in older children. Differences in survival and the molecular characteristics of leukemia in infants versus older children suggest a distinct etiology, likely involving prenatal factors. Procedure We examined the association between eight categories of maternally reported congenital abnormalities (CAs) (cleft lip or palate, spina bifida or other spinal defect, large or multiple birthmarks, other chromosomal abnormalities, small head or microcephaly, rib abnormalities, urogenital abnormalities, and other) and infant leukemia in a case,control study. The study included 443 cases diagnosed at <1 year of age at a Children's Oncology Group Institution in the United States or Canada from 1996 to 2006 and 324 controls. Controls were recruited from the cases' geographic area either by random digit dialing (1999,2002) or through birth certificates (2003,2008) and were frequency-matched to cases on birth year. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression after adjustment for birth year and a measure of follow-up time to account for differences in the CA observation period. Results No statistically significant associations were observed between infant leukemia and any CA (OR,=,1.2; 95% CI: 0.8,1.9), birthmarks (OR,=,1.4; 95% CI: 0.7,2.5), urogenital abnormalities (OR,=,0.7; 95% CI: 0.2,2.0), or other CA (OR,=,1.4; 95% CI: 0.7,2.8). Results were similar for acute lymphoblastic and myeloid leukemia cases. Fewer than five subjects were in the remaining CA categories precluding analysis. Conclusions Overall, we did not find evidence to support an association between CAs and infant leukemia. Pediatr Blood Cancer 2010;55:95,99. © 2010 Wiley-Liss, Inc. [source] Validation of neural tube defects in the full featured,general practice research database,PHARMACOEPIDEMIOLOGY AND DRUG SAFETY, Issue 5 2008Scott Devine PhD Abstract Background The General Practice Research Database (GPRD) has been used to identify associations between pregnancy medication exposures and birth defects, but experts have argued that databases such as this one cannot provide detailed information for the valid identification of complicated congenital anomalies. Our objective was to determine if the GPRD could be used to identify cases of neural tube defects (NTDs). Methods First, we created algorithms for anencephaly, encephalocele, meningocele, and spina bifida and used them to identify potential cases. We used the algorithms to identify 217 potential NTD cases in either a child's or a mother's record. We validated cases by querying general practitioners (GPs) via questionnaire. Where cases of NTD were identified in the mother's record, in addition to confirming the diagnosis, we asked the GPs if the diagnosis was for the mother or that of her fetus or offspring. Results Two hundred seventeen cases were identified, and 165 GP questionnaires were returned. We validated an NTD diagnosis for 117 cases, giving our algorithms a positive predictive value (PPV) of 0.71. The PPVs varied by NTD type: 0.81 for anencephaly, 0.83 for cephalocele, 0.64 for meningocele, and 0.47 for spina bifida. Conclusions Our identification algorithm was useful in identifying three of the four types of NTDs studied. Additional information is necessary to accurately identify cases of spina bifida. Copyright © 2008 John Wiley & Sons, Ltd. [source] Development of the vertebrate central nervous system: formation of the neural tubePRENATAL DIAGNOSIS, Issue 4 2009Nicholas D. E. Greene Abstract The developmental process of neurulation involves a series of coordinated morphological events, which result in conversion of the flat neural plate into the neural tube, the primordium of the entire central nervous system (CNS). Failure of neurulation results in neural tube defects (NTDs), severe abnormalities of the CNS, which are among the commonest of congenital malformations in humans. In order to gain insight into the embryological basis of NTDs, such as spina bifida and anencephaly, it is necessary to understand the morphogenetic processes and molecular mechanisms underlying neural tube closure. The mouse is the most extensively studied mammalian experimental model for studies of neurulation, while considerable insight into underlying developmental mechanisms has also arisen from studies in other model systems, particularly birds and amphibians. We describe the process of neural tube formation, discuss the cellular mechanisms involved and highlight recent findings that provide links between molecular signaling pathways and morphogenetic tissue movements. Copyright © 2009 John Wiley & Sons, Ltd. [source] Which gestational age estimate to use in AFP screening for spina bifida?PRENATAL DIAGNOSIS, Issue 7 2005Nicholas J. Wald No abstract is available for this article. [source] Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literaturePRENATAL DIAGNOSIS, Issue 6 2004Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis of complete trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free ,-human chorionic gonadotrophin (MSfree,-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfree,-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd. [source] Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifidaAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2002Gary M. Shaw Abstract Women who consume folic acid in early pregnancy reduced their risks for delivering offspring with neural tube defects (NTDs). The underlying process by which folic acid facilitated this risk reduction is unknown. Investigating genetic variation that influences cellular absorption, transport, and metabolism of folate will help fill this data gap. We focused our studies on a candidate gene that is involved in folate transport, the reduced folate carrier 1 (RFC1). Using data from a California population,based case control interview study (1989,1991 birth cohorts), we investigated whether spina bifida risk was influenced by an interaction between a polymorphism of infant RFC1 at nucleotide 80 (A80G) and maternal periconceptional use of vitamins containing folic acid. Allelic variants of RFC1 were determined by genotyping 133 live-born spina bifida case infants and 188 control infants. The percentages of case infants with the A80/A80, G80/G80, and G80/A80 genotypes were 27.2%, 28.0%, and 44.7%, respectively. The percentages of control infants were similar: 26.1%, 29.3%, and 44.7%. Odds ratios of 1.0 (95% confidence interval 0.5,2.0) for the G80/G80 genotype and 1.1 (0.6,2.0) for the G80/A80 genotype were observed relative to the A80/A80 genotype. Among mothers who did not use vitamins, spina bifida risk was 2.4 (0.8,6.9) for infants with genotype G80/G80 compared to those with A80/A80 genotype. Among mothers who did use vitamins, the risk was 0.5 (0.1,3.1) for infants with the G80/G80 genotype. Although this study did not find an increased spina bifida risk for infants who were heterozygous or homozygous for RFC1 A80G, it did reveal modest evidence for a gene-nutrient interaction between infant homozygosity for the RFC1 G80/G80 genotype and maternal periconceptional intake of vitamins containing folic acid on the risk of spina bifida. © 2002 Wiley-Liss, Inc. [source] Study of Botulinum Toxin A in Neurogenic Bladder Due to Spina Bifida in ChildrenANZ JOURNAL OF SURGERY, Issue 4 2010Aniruddh V. Deshpande Abstract Background:, We report results of a pilot study investigating the safety and efficacy of Botulinum A toxin on urinary incontinence and bladder function in children with neurogenic bladder. Methods:, This was a prospective, non-randomized clinical trial. Seven children with median age of 16 years with spina bifida who had high storage pressures, poor bladder compliance and had failed treatment with anticholinergic medications were offered a single intra-detrusor injection of Botulinum A toxin. All subjects were on clean intermittent catheterization before and during the study. Follow-up videourodynamic studies were performed at 1 month, between 3 and 6 months, and at 9 months. Data were collected on safety and on subjective outcomes through validated questionnaires filled out by patients at each visit. Results:, In majority of the patients (5/7), the injection produced an increase in bladder compliance (P < 0.05) and an improvement in incontinence (P < 0.05) at 1-month follow-up. However, in two patients whose baseline bladder capacity was markedly reduced (<200 mL), the improvement was very minimal. The beneficial effects in bladder compliance and incontinence dissipated by 9 months. The changes in subjective outcomes (incontinence and satisfaction scores) did not parallel the changes in urodynamics through the study period. No side effects of Botulinum toxin were seen. Conclusion:, Botulinum A toxin injection produces beneficial urodynamics and clinical effects. These beneficial effects last for approximately 9 months. There is a poor correlation between improvement in the urodynamics and the subjective outcomes. Botulinum A toxin injection is a safe alternative treatment for patients with spina bifida and a neurogenic bladder. [source] Neural tube defects and associated anomalies in a fetal and perinatal autopsy series,APMIS, Issue 4 2006LJUDMILLA A. G. NIELSEN Neural tube defects (NTDs) are congenital malformations of the central nervous system (CNS) secondary to abnormal closure of the neural tube during embryonic development. This study provides information on NTD rate, distribution, associated morphologic anomalies and organ weights in a Danish fetal and perinatal autopsy series during a 16 year period. The data were extracted from the autopsy reports of a consecutive series of 1984 fetal and perinatal autopsies from the Copenhagen area performed in the period 1989,2004. Registered parameters included: The location and morphology of the NTD, associated morphological anomalies, and organ weights. Organ weights were evaluated according to new fetal autopsy standards and grouped as low, normal or high. Ninety-seven NTD cases were found (4.9%): Spina bifida (38 cases), cephalocele (17 cases) and anencephaly (42 cases). 63% of NTD cases had associated morphologic anomalies. Among the most common were hydrocephalus, NTD in another region, and anomalies in the urogenital system. 58% of the NTD cases had abnormal weight of one or more organs. Most notable was low adrenal weight not only in anencephalic fetuses but also in cases with cephalocele, suggesting a possible association. [source] Birth at hospitals with co-located paediatric units for infants with correctable birth defectsAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2008Charles S. ALGERT Objectives: To determine the percentage of liveborn infants with selected antenatally identifiable and correctable birth defects who were delivered at hospitals with co-located paediatric surgical units (co-located hospitals). Additionally, to determine the survival rates for these infants. Patients and methods: Data were from linked New South Wales hospital discharge records from 2001 to 2004. Livebirths with one of the selected defects were included if they underwent an appropriate surgical repair, or died during the first year of life. Infants with multiple lethal birth defects were excluded. Deliveries at co-located hospitals were identified, but no data on antenatal diagnosis were available. Results: The study identified 287 eligible livebirths with the selected defects. The highest rates of delivery at co-located hospitals were for gastroschisis (88%), exomphalos (71%), spina bifida (63%) and diaphragmatic hernia (61%), and the lowest for transposition of the great arteries (43%) and oesophageal atresia (40%). Mothers resident outside of metropolitan areas, where the co-located hospitals are located, had a similar rate of delivery at co-located hospitals as metropolitan women. For the non-metropolitan mothers of infants with a birth defect, this represented a 30-fold increase over the baseline delivery rate of 1.8%. Post-surgery survival rates were 87% or higher. Overall survival rates were , 86% except for infants with a diaphragmatic hernia. Conclusions: Delivery rates at co-located hospitals were high for mothers of infants with these correctable birth defects. Regionalised health care appears to work well for these pregnancies, as women living outside metropolitan areas had a similar rate of delivery at co-located hospitals to that of urban women. [source] A survey of folate knowledge and consumer behaviours in Western Australia prior to the introduction of mandatory food fortificationAUSTRALIAN AND NEW ZEALAND JOURNAL OF PUBLIC HEALTH, Issue 6 2009Caron Molster Abstract Objectives: Prior to the introduction of mandatory folic acid fortification in September 2009, this study collected baseline data on folate awareness, knowledge of pregnancy-relevant public health messages and consumer behaviours in Western Australia. Methods: One thousand residents aged 18 years or older participated in a cross sectional telephone survey in September 2006. Respondents were recruited randomly from the electronic residential telephone directory. Results: Most respondents reported knowing little or nothing about folate (86%). Women of childbearing age were more likely than other adults to know the association between folate intake and birth defects (82% v 56%) but 41% did not know that folate should be consumed periconceptionally to reduce the risk of spina bifida. Overall, half the respondents did not take supplements and two-thirds did not know if the food products they ate were fortified with folic acid. Associations were detected between knowledge, consumer behaviours and socio-economic indicators such as age, income, highest level of education, area of residence and parental status. Implications: A mix of public health strategies that includes mandatory fortification and the promotion of supplement use should improve the timely and sufficient intake of folate across all socio-economic strata of the Australian population. Strategies that support the introduction of mandatory fortification, such as awareness and education campaigns should be built on a solid understanding of the drivers and barriers to knowledge acquisition and desired consumer behaviours. [source] Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal womenBIRTH DEFECTS RESEARCH, Issue 8 2010Carolyn M. Summers Abstract BACKGROUND Low folate and high homocysteine (Hcy) concentrations are associated with pregnancy-related pathologies such as spina bifida. Polymorphisms in folate/Hcy metabolic enzymes may contribute to this potentially pathogenic biochemical phenotype. METHODS The study comprised 26 Caucasian and 23 African-American premenopausal women. Subjects gave fasting blood samples for biochemical phenotyping and genotyping. Total Hcy (tHcy) and both plasma and red blood cell (RBC) folate derivatives (i.e. tetrahydrofolate [THF], 5-methylTHF [5-MTHF], and 5,10-methenylTHF [5,10-MTHF]) were measured using stable isotope dilution liquid chromatography, multiple reaction monitoring, and mass spectrometry. Eleven polymorphisms from nine folate/Hcy pathway genes were genotyped. Tests of association between genetic, lifestyle, and biochemical variables were applied. RESULTS In African American women, tHcy concentrations were associated (p < 0.05) with total RBC folate, RBC 5-MTHF, B12, and polymorphisms in methionine synthase (MTR) and thymidylate synthase (TYMS). In Caucasian women, tHcy concentrations were not associated with total folate levels, but were associated (p < 0.05) with RBC THF, ratios of RBC 5-MTHF:THF, and polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR) and MTR. In African Americans, folate derivative levels were associated with smoking, B12, and polymorphisms in MTR, TYMS, methionine synthase reductase (MTRR), and reduced folate carrier1 (RFC1). In Caucasians, folate derivative levels were associated with vitamin use, B12, and polymorphisms in MTHFR, TYMS, and RFC1. CONCLUSIONS Polymorphisms in the folate/Hcy pathway are associated with tHcy and folate derivative levels. In African American and Caucasian women, different factors are associated with folate/Hcy phenotypes and may contribute to race-specific differences in the risks of a range of pregnancy-related pathologies. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc. [source] Effect of maternal asthma on the risk of specific congenital malformations: A population-based cohort study,,§BIRTH DEFECTS RESEARCH, Issue 4 2010Lucie Blais Abstract BACKGROUND There is a lack of consensus in the literature about the effect of maternal asthma on the development of congenital malformations. OBJECTIVE To further examine the association between maternal asthma and the risk of congenital malformations. METHODS A cohort of 41,637 pregnancies from women with and without asthma who delivered between 1990 and 2002 was reconstructed by linking three Quebec (Canada) administrative databases. All cases of malformations were identified using either the medical services or the hospital databases. The main exposure was maternal asthma, defined by the presence of at least one asthma diagnosis and at least one prescription for an asthma medication at any time in the two years before or during pregnancy. Generalized Estimation Equation models were performed to estimate the adjusted odds ratio (OR) of congenital malformations as a function of maternal asthma. RESULTS The crude prevalences of any congenital malformation were 9.5% and 7.5% for women with and without asthma, respectively. Maternal asthma was significantly associated with an increased risk of any malformation (OR=1.30; 95% CI: 1.20-1.40) and three specific groups (at the 0.0028 level): nervous system (excluding spina bifida: OR=1.83; 1.37-2.83); respiratory system (OR=1.75; 1.21-2.53); and digestive system (OR=1.48; 1.19-1.85). CONCLUSIONS Maternal asthma increases the risk of specific groups of congenital malformations. The disease itself, through fetal oxygen impairment, is likely to play a role in this increased risk, but more research is needed to disentangle the relative effect of asthma and medications used to treat this disease. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc. [source] | ||||||||||||||||