Frequently Asked Questions about Spina Bifida

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... and internet sites that offer free and for purchase personal health records, go the The American Health ... team is a high-risk pregnancy specialist with experience managing a Spina Bifida pregnancy. Babies with myelomeningocele, ...

Pregnancy outcome and complications in women with spina bifida.

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Arata, M; Grover, S; Dunne, K; Bryan, D

2000-09-01

To describe the antenatal complications, mode of delivery and outcome of pregnancy in women with spina bifida. Case series of women known to have attended the spina bifida clinic at the Royal Children's Hospital. Medical records, postal questionnaire and telephone interview were utilized to collect data on the effect of pregnancy on the health of women and the effect of spina bifida on pregnancy outcome. Of 207 women born between 1945 and 1975, 23 reported having a pregnancy, and 17 who had completed pregnancies agreed to participate. The 17 women had a total of 29 pregnancies, with 23 pregnancies progressing to births. Fourteen of 17 women had antenatal admissions, with wheelchair-dependent women requiring more-frequent and longer admissions. Recurrent urinary infections in pregnancy occurred in women with a prior history of urinary infections; stomal problems occurred but were not serious; mobility was reduced for two women during pregnancy, with full recovery afterwards; and preexisting pressure sores worsened during pregnancy. Vaginal deliveries occurred in one in five pregnancies of women who were wheelchair dependent and in ten of eighteen pregnancies in independently mobile women, including seven of eight pregnancies of independently mobile women without ileal conduits. Cesarean sections were accompanied by postoperative complications in 10 women. Women with spina bifida who become pregnant generally have a positive outcome, with relatively low complication rates.

Differences between the events preceding spina bifida and anencephaly.

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James, W H

1981-02-01

It is usually held that there is a time continuum in the formation of monoxygotic (MZ) twins which is indexed by their placentation, running from dichorionic to monochorionic diamniotic to monochorionic monoamniotic and conjoined pairs. There is good evidence that this continuum is characterised by a continuum of predisposition to anencephaly, slightly raised in dichorionic pairs but very high in some sorts of conjoined pairs. Although MZ twins, especially monoamniotic and conjoined pairs, are peculiarly liable to anencephaly, they are not particularly susceptible to spina bifida. Among twin pairs concordant for anencephaly or spina bifida, there are strikingly few concordant in the sense of one twin having anencephaly and the other spina bifida, in contrast with the numbers of pairs concordant for the same malformation. The prevalence of anencephaly in double monsters varies with the type of monster, being high in diprosopus. These findings may be explained by the timing of embryonic events.

Subluxation and dislocation of the hip in children with spina bifida (review

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A. G. Baindurashvili

2013-01-01

Full Text Available Subluxation or dislocation of the hip joint develops in 30-50% children with spina bifida during the first 2-3 years of life. These problems results from force disbalance between muscle group and other structural changes of the hip and pelvis components of the joint. The goal of treatment subluxation and dislocation of the hip joint in children with spina bifida is to make comfortable daily functions, eliminate the pain, provide the mobility and social independent. Management of subluxation and dislocation in children with spina bifida had changed in the last years because of the analysis long-term results. Indications for surgical treatment were determined more clearly, what made the results of treatment better.

The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia

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Adibah Sahmat

2017-11-01

Full Text Available BackgroundThe aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients’ ambulation and education level (where available.MethodsData from the Department of Patient Information University of Malaya Medical Centre (UMMC, Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida. Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records.ResultsA total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays (n = 36, 41.86%, followed by equal numbers of Chinese and Indians (n = 24, 27.91%. The highest number of diagnoses reported was myelomeningocele type-spina bifida (n = 39, 45.35%. The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types (n = 23, 26.74%. Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% (n = 32 and 1.16% (n = 1, respectively. In terms of mobility, 32.84% (n = 22/67 of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age (n = 22/61 received formal education ranging from preschool to secondary school.ConclusionThe prevalence of spina bifida in

The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia.

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Sahmat, Adibah; Gunasekaran, Renuka; Mohd-Zin, Siti W; Balachandran, Lohis; Thong, Meow-Keong; Engkasan, Julia P; Ganesan, Dharmendra; Omar, Zaliha; Azizi, Abu Bakar; Ahmad-Annuar, Azlina; Abdul-Aziz, Noraishah M

2017-01-01

The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients' ambulation and education level (where available). Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida). Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records. A total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays ( n  = 36, 41.86%), followed by equal numbers of Chinese and Indians ( n  = 24, 27.91%). The highest number of diagnoses reported was myelomeningocele type-spina bifida ( n  = 39, 45.35%). The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types ( n  = 23, 26.74%). Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% ( n  = 32) and 1.16% ( n  = 1), respectively. In terms of mobility, 32.84% ( n  = 22/67) of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age ( n  = 22/61) received formal education ranging from preschool to secondary school. The prevalence of spina bifida in UMMC is as according to

Urological care for children with spina bifida : Individual, tailored and without antibiotic prophylaxis

NARCIS (Netherlands)

Zegers, S.H.J.

2017-01-01

In our SPIN UTI study, we have focused on the urological problems, urinary tract infections and Quality of Life in spina bifida children. For eighteen months, we have analyzed the diagnosing, treatment and prevention of urinary tract infections in 176 children with spina bifida from Utrecht and

Surgery on Fetus Reduces Complications of Spina Bifida

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Perineal Sensation Predictive of Spina Bifida Outcome

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J Gordon Millichap

2007-01-01

Full Text Available Neurologic examination, including perineal sensation, was conducted in a prospective cohort study of 117 consecutive patients with open spina bifida at St George's, University of London, and Addenbrooke's Hospital, Cambridge, UK.

Hospitalization for urinary tract infections and the quality of preventive health care received by people with spina bifida.

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Armour, Brian S; Ouyang, Lijing; Thibadeau, Judy; Grosse, Scott D; Campbell, Vincent A; Joseph, David

2009-07-01

The preventive health care needs of people with disabilities often go unmet, resulting in medical complications that may require hospitalization. Such complications could be due, in part, to difficulty accessing care or the quality of ambulatory care services received. To use hospitalizations for urinary tract infections (UTIs) as a marker of the potential quality of ambulatory care services received by people affected by spina bifida. MarketScan inpatient and outpatient medical claims data for 2000 through 2003 were used to identify hospitalizations for UTI, which is an ambulatory care sensitive condition, for people affected by spina bifida and to calculate inpatient discharge rates, average lengths of stay, and average medical care expenditures for such hospitalizations. People affected by spina bifida averaged 0.5 hospitalizations per year, and there were 22.8 inpatient admissions with UTI per 1000 persons with spina bifida during the period 2000-2003, in comparison to an average of 0.44 admission with UTI per 1000 persons for those without spina bifida. If the number of UTI hospitalizations among people affected by spina bifida were reduced by 50%, expenditures could be reduced by $4.4 million per 1000 patients. Consensus on the evaluation and management of bacteriuria could enhance clinical care and reduce the disparity in UTI discharge rates among people affected by spina bifida compared to those without spina bifida. National evidence-based guidelines are needed.

Cognitive Abilities of Pre- and Primary School Children with Spina Bifida in Uganda

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Bannink, Femke; Fontaine, Johnny R. J.; Idro, Richard; van Hove, Geert

2016-01-01

This study investigates cognitive abilities of pre/primary school children without and with spina bifida in Uganda. Qualitative semi structured interviews and quantitative functioning scales measurements were combined and conducted with 133 parents, 133 children with spina bifida, and 35 siblings. ANCOVA was used to test for differences in…

Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.

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Chen, C P; Shih, S L; Liu, F F; Jan, S W

1997-01-01

Cebocephaly and sirenomelia are uncommon birth defects. Their association is extremely rare; however, the presence of spina bifida with both conditions is not unexpected. We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without maternal diabetes mellitus. Our case adds to the examples of overlapping cephalic and caudal defects, possibly related to vulnerability of the midline developmental field or axial mesodermal dysplasia spectrum. Images PMID:9132501

Diffusion tensor MRI and fiber tractography of the sacral plexus in children with spina bifida

DEFF Research Database (Denmark)

Haakma, Wieke; Dik, Pieter; ten Haken, Bennie

2014-01-01

anatomical and microstructural properties of the sacral plexus of patients with spina bifida using diffusion tensor imaging and fiber tractography. MATERIALS AND METHODS: Ten patients 8 to 16 years old with spina bifida underwent diffusion tensor imaging on a 3 Tesla magnetic resonance imaging system...... diffusivity values at S1-S3 were significantly lower in patients. CONCLUSIONS: To our knowledge this 3 Tesla magnetic resonance imaging study showed for the first time sacral plexus asymmetry and disorganization in 10 patients with spina bifida using diffusion tensor imaging and fiber tractography...

Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

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Padula, Amy M; Yang, Wei; Schultz, Kathleen; Lurmann, Fred; Hammond, S Katharine; Shaw, Gary M

2018-05-01

Spina bifida is a birth defect characterized by incomplete closure of the embryonic neural tube. Genetic factors as well as environmental factors have been observed to influence risks for spina bifida. Few studies have investigated possible gene-environment interactions that could contribute to spina bifida risk. The aim of this study is to examine the interaction between gene variants in biotransformation enzyme pathways and ambient air pollution exposures and risk of spina bifida. We evaluated the role of air pollution exposure during pregnancy and gene variants of biotransformation enzymes from bloodspots and buccal cells in a California population-based case-control (86 cases of spina bifida and 208 non-malformed controls) study. We considered race/ethnicity and folic acid vitamin use as potential effect modifiers and adjusted for those factors and smoking. We observed gene-environment interactions between each of the five pollutants and several gene variants: NO (ABCC2), NO 2 (ABCC2, SLC01B1), PM 10 (ABCC2, CYP1A1, CYP2B6, CYP2C19, CYP2D6, NAT2, SLC01B1, SLC01B3), PM 2.5 (CYP1A1 and CYP1A2). These analyses show positive interactions between air pollution exposure during early pregnancy and gene variants associated with metabolizing enzymes. These exploratory results suggest that some individuals based on their genetic background may be more susceptible to the adverse effects of pollution. © 2018 Wiley Periodicals, Inc.

Marginal maternal vitamin B12 status increases the risk of offspring with spina bifida.

NARCIS (Netherlands)

Groenen, P.; Rooij, I.A.L.M. van; Peer, P.G.M.; Gooskens, R.H.; Zielhuis, G.A.; Steegers-Theunissen, R.P.M.

2004-01-01

OBJECTIVE: The purpose of this study was to investigate B vitamins and homocysteine as risk factor for offspring with spina bifida. STUDY DESIGN: Blood samples from 45 mothers and their children with spina bifida and from 83 control mothers and their children were obtained to determine the levels of

Reproductive Health Care for Women with Spina Bifida

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Amie B. Jackson

2007-01-01

Full Text Available Women with spina bifida have unique health care concerns and as the life expectancy of this population increases, they are transitioning from adolescence to womanhood and entering their reproductive years with little information about what to expect. Likewise, their health care providers do not have the benefit of evidence-based research that comprehensively addresses the issues these women may face related to reproduction or aging. Few studies have focused on the effects that spina bifida may have on these women's reproductive systems, nor has attention been paid to the effects that possible reproductive endocrine changes may have on their disability. Needless to say, concerns about sexuality, sexual function, and pregnancy are just as important to these women as they are to their able-bodied counterparts.

Labor market productivity costs for caregivers of children with spina bifida: a population-based analysis.

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Tilford, John M; Grosse, Scott D; Goodman, Allen C; Li, Kemeng

2009-01-01

Caregiver productivity costs are an important component of the overall cost of care for individuals with birth defects and developmental disabilities, yet few studies provide estimates for use in economic evaluations. This study estimates labor market productivity costs for caregivers of children and adolescents with spina bifida. Case families were recruited from a state birth defects registry in Arkansas. Primary caregivers of children with spina bifida (N = 98) reported their employment status in the past year and demographic characteristics. Controls were abstracted from the Current Population Survey covering the state of Arkansas for the same time period (N = 416). Estimates from regression analyses of labor market outcomes were used to calculate differences in hours worked per week and lifetime costs. Caregivers of children with spina bifida worked an annual average of 7.5 to 11.3 hours less per week depending on the disability severity. Differences in work hours by caregivers of children with spina bifida translated into lifetime costs of $133,755 in 2002 dollars using a 3% discount rate and an age- and sex-adjusted earnings profile. Including caregivers' labor market productivity costs in prevention effectiveness estimates raises the net cost savings per averted case of spina bifida by 48% over the medical care costs alone. Information on labor market productivity costs for caregivers can be used to better inform economic evaluations of prevention and treatment strategies for spina bifida. Cost-effectiveness calculations that omit caregiver productivity costs substantially overstate the net costs of the intervention and underestimate societal value.

The longest faun tail forming dreadlocks with underlying spina bifida occulta.

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Brar, Balvinder Kaur; Mahajan, Bharat Bhushan; Mittal, Jyotisterna

2013-04-15

Spina bifida is a developmental anomaly characterized by defective closure of the bony encasement of the spinal cord through which the spinal cord and meninges may or may not protrude. We report a rare case of a very long faun tail, which was in the form of a 20 inch long tail originating from the lumbosacral area in a rhomboidal pattern, measuring 10 x 8 inches. The case is being reported for its rare presentation of a 20 inch long faun tail with underlying spina bifida occulta.

Treatment of pressure sores in spina bifida patients with calcium alginate and foam dressings.

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Ausili, E; Paolucci, V; Triarico, S; Maestrini, C; Murolo, D; Focarelli, B; Rendeli, C

2013-06-01

Prospective study on local treatment of pressure sores using calcium alginate and foam dressings in spina bifida patients. Investigate if this sequential approach is valid and safe for selected patients with neurological impairments. Using European Pressure Ulcer Grading System, after clinical evaluation of local sore, selected patients of Spina Bifida Center of Rome were treated with sequential calcium alginate and foam dressings for 12 weeks. Pressure ulcere surfaces were measured monthly by ulcer tracing. The endpoints were the mean absolute areas surface reduction during every month and number of patients achieving a 50% or more during study. 14 patients (7 males aged 12-24 years) with spina bifida and pressure sores were treated. Mean and standard deviation of mean surface area reduction were 12.5 ± 7.5 cm 2 at start of the study versus 3.7 ± 5.2 cm 2 after 12 weeks, p pressure sores in selected patients with spina bifida. In fact, they protect the wound and create an environment favorable to healing.

Surgery on Fetus Reduces Complications of Spina Bifida

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Full Text Available ... is no longer being updated. Video: Surgery on Fetus Reduces Complications of Spina Bifida Wednesday, March 9, ... Institutes of Health and four research institutions. The fetal surgical procedure also increases the chances that a ...

Surgery on Fetus Reduces Complications of Spina Bifida

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Full Text Available ... Scientific Director (OSD) Affinity Groups & Labs (AG&L) Scientists Emeriti National Center for Medical Rehabilitation Research (NCMRR) ... of Spina Bifida Wednesday, March 9, 2011 Recently, scientists in an NIH study reported that a surgical ...

Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Community Knowledge, Beliefs, Attitudes, and Practices towards Children with Spina Bifida and Hydrocephalus in Uganda

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Bannink, Femke; Stroeken, Koenraad; Idro, Richard; van Hove, Geert

2015-01-01

This article describes the findings of a qualitative study on knowledge, beliefs, attitudes, and practices towards children with spina bifida and hydrocephalus in four regions of Uganda. Focus group discussions and semi-structured interviews were held with parents of children with spina bifida and hydrocephalus, policy-makers, and service…

Surgery on Fetus Reduces Complications of Spina Bifida

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Full Text Available ... This page is no longer being updated. Video: Surgery on Fetus Reduces Complications of Spina Bifida Wednesday, ... the NICHD, describes the study’s findings. Read the Management of Myelomeningocele Study (MOMS) Interview text alternative . The ...

Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Full Text Available ... Fetus Reduces Complications of Spina Bifida Wednesday, March 9, 2011 Recently, scientists in an NIH study reported ... Owner Office of Communications Last Reviewed Date 3/9/2011 Contact Us Publications Sitemap Español facebook twitter ...

The adverse influence of spina bifida occulta on the medical treatment outcome of primary monosymptomatic nocturnal enuresis

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Basri Cakiroglu

2014-12-01

Full Text Available Objective: Previous reports have suggested that the incidence of spina bifida occulta (SBO in patients with primary monosymptomatic nocturnal enuresis (PMNE is higher than the general population. The purpose of this study was to investigate the effect of spina bifida occulta on the medical treatment outcome of PMNE. Material and Methods: Between January 2008 and December 2011, a total of 223 children (151 boys and 72 girls, aged 6-16 years; mean age: 10.1 ± 3.04 years with PMNE were reviewed retrospectively. All of the children underwent physical examination, urine analysis, urinary tract ultrasonography and kidney ureter bladder (KUB scout film. All patients were initially treated with a timed voiding program and were given desmopressin acetate when necessary. Results: Spina bifida occulta was detected in 75 children (33.6%. Spina bifida occulta affected L4 in 2 children, L5 in 6 children, L4-L5 in 3 children, S1 in 52 children, S2 in 7 children and S1-S2 in 2 children. Treatment was successful in 79% of the children without SBO, and in only 48% of the children with SBO. Medical treatment success rates differed significantly between the study groups. Conclusion: The presence of spina bifida occulta significantly affects the response to medical treatment in patients with PMNE. Thus, verifying spina bifida occulta status in PMNE can facilitate prognostic predictions about the response to medical treatment.

Life satisfaction of young adults with spina bifida

NARCIS (Netherlands)

Barf, H. A.; Post, M. W. M.; Verhoef, M.; Jennekens-Schinkel, A.; Gooskens, R. H. J. M.; Prevo, A. J. H.

This study concerns life satisfaction and its determinants in Dutch young adults with spina bifida (SB). Data on life satisfaction (Life Satisfaction Questionnaire [LiSat-9]) were related to hydrocephalus, lesion level, disabilities, and demographic variables. In total, 179 young adults with SB

Diffusion tensor magnetic resonance imaging and fiber tractography of the sacral plexus in children with spina bifida

DEFF Research Database (Denmark)

Haakma, Wieke; Dik, Pieter; ten Haken, Bennie

2014-01-01

anatomical and microstructural properties of the sacral plexus of patients with spina bifida using diffusion tensor imaging and fiber tractography. MATERIALS AND METHODS: Ten patients 8 to 16 years old with spina bifida underwent diffusion tensor imaging on a 3 Tesla magnetic resonance imaging system...... diffusivity values at S1-S3 were significantly lower in patients. CONCLUSIONS: To our knowledge this 3 Tesla magnetic resonance imaging study showed for the first time sacral plexus asymmetry and disorganization in 10 patients with spina bifida using diffusion tensor imaging and fiber tractography...

A study of the clinical profile and outcome of spina bifida

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Theophilus Nikita Kumar

2016-02-01

Full Text Available Neural tube defects (NTDs are a group of congenital anomalies characterized by defects in dorsal midline structures, including neural tissue, dura, muscle, bone and/or skin. The clinical presentations and the follow-up of these patients requires attention to various end organs besides the nervous system. To evaluate the clinical profile and surgical outcome of children with spina bifida. Out of a total of 74 patients treated at our institute for spina bifida between June 2013 to august 2015, 74 cases of spina bifida were analyzed retrospectively and prospectively. The clinical profile, radiological findings and urodynamic studies were recorded. Craniospinal MRI was done in patients to screen for Arnold Chiari malformations and monitoring of hydrocephalus was done as a management protocol at our institute for these children. All these patients except two underwent surgery for correction and closure of the spinal defect. Associated anomalies were treated accordingly. They were clinically assessed over a mean follow up period of 1.3years, ranging from 2months to 2½ years. 73% of the patients presented in the neonatal age group. Of which, 72% presented with a visible sac over the back.72% of the cases were Myelomeningocoeles. 79% of the defects were in the lumbosacral region.30% presented with sensorimotor loss or bladder bowel incontinence. Sensorimotor improvement was seen in 12.5% after repairing the defect with the help of physiotherapy and braces. 30% of the patients were diagnosed to have hydrocephalus, of which 33% required a CSF diversion procedure. The postoperative course of spina bifida repair was found to be uneventful in 90% of the patients

Are There Disorders or Conditions Associated with Spina Bifida?

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... additional physical and psychological conditions, including digestive, vision, sexual, social, and emotional problems; obesity; and depression. Centers for Disease Control and Prevention. (2011). Spina bifida: Health issues and treatments. Retrieved March 30, 2012, from http://www.cdc. ...

MR imaging of the spine in children with spina bifida

International Nuclear Information System (INIS)

Williamson, M.R.; Glasier, C.M.; Angtuaco, E.J.C.; McConnell, J.R.; Chadduck, W.M.; Binet, E.F.

1986-01-01

Twenty infants and children with spina bifida were examined as outpatients with spinal MR imaging. Studies were performed using a 0.6-T imager and a surface coil. These examinations were performed in patients previously operated on who had progressive neurologic symptoms and in newly diagnosed patients to exclude lipomyeloschisis, low-lying cord, diastematomyelia, or syringomyelia. Predominantly T1-weighted sequences were obtained in at least two orthogonal planes with a 5-mm section thickness. Eighteen patients had a low-lying spinal cord. Six patients had syringomyelia, usually lumbar. Five patients had intraspinal lipomas, and three had diastematomyelia. MR imaging was diagnostic in 17 instances. Patient motion or severe kyphoscoliosis comprised three examinations. MR imaging is the screening examination of choice in children with spina bifida

Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida.

NARCIS (Netherlands)

Groenen, P.; Peer, P.G.M.; Wevers, R.A.; Swinkels, D.W.; Franke, B.; Mariman, E.C.M.; Steegers-Theunissen, R.P.M.

2003-01-01

OBJECTIVE: The purpose of this study was to investigate the maternal and children's myo-inositol, glucose, and zinc status in association with spina bifida risk. STUDY DESIGN: Sixty-three mothers and 70 children with spina bifida and 102 control mothers and 85 control children were investigated. The

Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands

NARCIS (Netherlands)

Olde Scholtenhuis, M. A. G.; Cohen-Overbeek, T. E.; Offringa, M.; Barth, P. G.; Stoutenbeek, Ph; Gooskens, R. H.; Wladimiroff, J. W.; Bilardo, C. M.

2003-01-01

Objective To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. Methods A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was

Home screening for bacteriuria in children with spina bifida and clean intermittent catheterization

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Zegers Bas SHJ

2012-10-01

Full Text Available Abstract Background Significant bacteriuria (SBU and urinary tract infections (UTIs are common in patients with spina bifida and neuropathic detrusor sphincter dysfunction. Laboratory agar plated culture is the gold standard to establish SBU. It has the disadvantage of diagnostic and subsequent therapeutic delay. Leukocyte esterase tests (LETs and dip slides proved to be useful in the general populations to exclude SBU and UTI. The aim of this study was to evaluate the reliability of LET and dip slide in children with spina bifida without symptoms of UTI. The reliability in children with asymptomatic SBU was not studied before. Methods In one hundred and twelve children with spina bifida on clean intermittent catheterization LETs and dip slides were compared with laboratory cultures. Both tests and agar plated cultures were performed on catheterized urine samples. The hypothesis was that the home tests are as accurate as laboratory cultures. Results A SBU was found in 45 (40% of the 112 laboratory cultures. A negative LET excluded SBU (negative predictive value 96%, while a positive LET had a positive predictive value of 72%. The false positive rate was 28%. Dip slide determination of bacterial growth had no added value, other than serving as transport medium. Conclusions In spina bifida children, leukocyte esterase testing can be used to exclude significant bacteriuria at home, while dip slide tests have no added value to diagnose or exclude significant bacteriuria.

Spina bifida: A multidisciplinary perspective on a many-faceted ...

African Journals Online (AJOL)

Open spina bifida or myelomeningocele (SBM) is the most common birth defect involving the central nervous system, second only in incidence to congenital cardiac disease. Although recognised since antiquity, with anthropological relics depicting affected individuals and suggestive descriptions in the writings of ...

The results of Grice Green subtalar arthrodesis of valgus foot in spina bifida

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Fatih Küçükdurmaz

2012-01-01

Full Text Available Background: Valgus foot is a common foot deformity in spina bifida. The most popular operation for the valgus deformity has been the Grice talocalcaneal blocking. It has not been studied primarily in children with spina bifida. We report a prospective series, we present the results of hind foot valgus deformity of children with spina bifida, using Grice talocalcaneal arthrodesis with a tricortical iliac bone graft. Materials and Methods: Between May 2000 and December 2003, 21 patients with bilateral (42 feet valgus deformity of feet underwent surgery. There were 7 males and 14 females. The mean age of patients was 67.7 months (range 50-108 months. Results: The total number of feet that had nonunion was 11, in 7 of them the grafts were completely reabsorbed and the outcome of all these feet was unsatisfactory. Four feet had partial union of which three had unsatisfactory and one had satisfactory outcome. Sixteen feet had residual valgus deformity at the last followup visit, 10 patients had nonunion, and 6 had inadequate correction. Mean preoperative talocalcaneal and calcaneal pitch angles were 48.5΀ and 31.9΀, respectively, which decreased to 38.5΀ and 29.1΀, respectively, postoperatively. The decrease in talocalcaneal angle and calcaneal pitch was significant between preoperative and postoperative measurements (P<0.05. Conclusion: Grice subtalar arthrodesis technique is still a valuable option for valgus foot in patients with spina bifida. In this study, we found more encouraging results in older patients.

The Infant and Young Child with Spina Bifida: Major Medical Concerns.

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Shaer, Catherine M.

1997-01-01

This review of medical concerns in dealing with spina bifida examines neurologic and neurosurgical issues, learning issues, urological dysfunction, orthopedic issues, bowel control, latex allergy, and prenatal diagnosis and prevention. (JDD)

Osteoporosis in paediatric patients with spina bifida

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Marreiros, Humberto; Loff, Clara; Calado, Eulalia

2012-01-01

The prevalence andmorbidity associated with osteoporosis and fractures in patients with spina bifida (SB) highlight the importance of osteoporosis prevention and treatment in early childhood; however, the issue has received little attention. The method for the selection of appropriate patients for drug treatment has not been clarified. Objective: To review the literature concerning fracture risks and low bone density in paediatric patients with SB. We looked for studies describing state...

First-trimester visualization of the fourth ventricle in fetuses with and without spina bifida.

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Solt, Ido; Acuna, Joann G; Adeniji, Beni A; Mirocha, James; Kim, Matthew J; Rotmensch, Siegfried

2011-12-01

The purpose of this study was to examine the efficacy of nonvisualization of the fourth ventricle for first-trimester detection of spina bifida. A total of 250 digitally stored sonographic examinations at gestational ages of 11 weeks to 13 weeks 6 days (245 normal and 5 randomly interspersed spina bifida cases) were retrospectively analyzed by 4 blinded reviewers for the presence or absence of the fourth ventricle followed by an anteroposterior ventricular dimension measurement. The ventricle size was related to the crown-rump length and gestational age by linear regression analysis and Pearson correlation. The fourth ventricle was identified in 971 of 1000 image readings (97.1%). False-negative and false-positive readings occurred in 11 of 20 (55.0%) and 20 of 980 (2.0%) cases, respectively (sensitivity, 0.45; specificity, 0.98.). False-negative and false-positive readings were evenly distributed throughout the gestational age range. When the ventricular size was measurable, its mean dimensions increased linearly with gestational age and were below the fifth percentile in 10 of 245 (4.0%) normal and 0 of 4 spina bifida cases, respectively. Intraclass correlation coefficient estimates were calculated based on the 2-way analysis of variance model and found to be 0.30 for a single rater and 0.64 for the mean of 4 raters. Nonvisualization of the first-trimester fourth ventricle is a less robust screening parameter for spina bifida than previously published.

Is autonomy related to the quality of performance of everyday activities in children with spina bifida?

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Peny-Dahlstrand, Marie; Krumlinde-Sundholm, Lena; Gosman-Hedström, Gunilla

2012-01-01

To investigate the relationship between the level of autonomy and the quality of performance of everyday activities in a population-based cohort of children with spina bifida and to study the agreement between the children's and the parents' ratings of autonomy. 50 dyads of children (aged 6-14) with spina bifida and their parents rated the children's level of autonomy with an adapted, Swedish version of the Autonomy Scale from the Arc's Self-Determination Scale. Each child's quality of performance of everyday activities was assessed with the Assessment of Motor and Process Skills (AMPS). The autonomy levels of the children with spina bifida were rated to be lowest in daily routines and highest in leisure activities. Binary logistic regression analyses revealed that age, motor skills and process skills were all significantly related to the autonomy level, but that process skills appeared to predominate in this respect. Concerning the perception of the autonomy level, little agreement was found between each child and his/her parent. It is important to understand and support the development of process skills as expressed in task performance in children with spina bifida and to pay attention to both the parent's and the child's opinion when setting goals and plans for interventions.

Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005-2010: implications for a neural tube defects surveillance system.

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Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

2014-01-01

Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya.

Neonatal loss of motor function in human spina bifida aperta

NARCIS (Netherlands)

Sival, Deborah A; van Weerden, Tiemen W; Vles, Johan S H; Timmer, Albertus; den Dunnen, Wilfred F A; Staal-Schreinemachers, A L; Hoving, Eelco W.; Sollie, Krystyne M; Kranen-Mastenbroek, Vivianne J M; Sauer, Pieter J J; Brouwer, Oebele F

OBJECTIVE: In neonates with spina bifida aperta (SBA), leg movements innervated by spinal segments located caudal to the meningomyelocele are transiently present. This study in neonates with SBA aimed to determine whether the presence of leg movements indicates functional integrity of neuronal

Neurological bypass for sensory innervation of the penis in patients with spina bifida.

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Overgoor, Max L E; Kon, Moshe; Cohen-Kettenis, Peggy T; Strijbos, Saskia A M; de Boer, Niels; de Jong, Tom P V M

2006-09-01

Most male patients with spina bifida have normal sexual desires. During puberty they begin to realize that they can achieve erection and sexual intercourse but without any sensation in the penis. We hypothesized that restored sensation in the penis would greatly contribute to their quality of life and sexual health. In this prospective study we investigated the outcome of a new operative neurological bypass procedure in patients with spina bifida. In 3 patients who were 17, 18 and 21 years old with a spinal lesion at L5, L4 and L3-L4, respectively, the sensory ilioinguinal nerve (L1) was cut distal in the groin and joined by microneurorrhaphy to the divided ipsilateral dorsal nerve of the penis (S2-4) at the base of the penis. All patients underwent preoperative and postoperative neurological and psychological evaluations. By 15 months postoperatively all patients had achieved excellent sensation on the operated side of the glans penis. They were unequivocally positive about the results and the penis had become more integrated into the body image. In 2 patients masturbation became more meaningful and 1 became more sexually active with and without his partner. The newly designed neurological bypass procedure in patients with spina bifida resulted in excellent sensibility in the glans penis. The new sensation appeared to contribute to the quality of the patient sexuality and sexual functioning as well as to the feeling of being a more normal and complete individual who is more conscious of the penis. This new operation might become standard treatment in patients with spina bifida in the future.

Models of Self in Families of People with Spina Bifida

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Viviam Rafaela Barbosa Pinheiro Freire

Full Text Available Abstract: Models of self reveal cultural views regarding the competences that children should acquire, and these views tend to be shared by people within the same environment. Thus, this study aims to evaluate the models of self in families of people with spina bifida. Seventeen caregivers answered an online questionnaire containing socio-demographic questions and three scales of self: autonomous, related and autonomous-related. The data were analyzed using descriptive statistics and techniques of multivariate analysis. The main results indicate that the most valued model of self was the autonomous-related model, reflecting the desire that children develop autonomy as well as interpersonal relationships. Such a model, however, is distinct from that of family groups of people with typical development living in the same cultural environment, indicating the need for families of people with spina bifida to receive support to reach their developmental goals.

Correlates of Self Esteem in Adolescents with Spina Bifida.

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Eckart, M. L.

The study examined correlates of self-esteem in 54 adolescents and young adults (ages 12-22) with spina bifida. Core issues identified were the relationships of global self-esteem and perceived competencies in specific areas, perceptions of control, and identification with the physically handicapped. Relationships of self-esteem to age, gender,…

Association between CFL1 gene polymorphisms and spina bifida risk in a California population

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Lammer Edward J

2007-03-01

Full Text Available Abstract Background CFL1 encodes human non-muscle cofilin (n-cofilin, which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin depolymerizing and cellular activity during neural tube closure. Such alterations may be associated with an increased risk for neural tube defects (NTDs. Methods Having re-sequenced the human CFL1 gene and identified five common single nucleotide polymorphisms (SNPs in our target population, we investigated whether there existed a possible association between the genetic variations of the CFL1 gene and risk of spina bifida. Samples were obtained from a large population-based case-control study in California. Allele association, genotype association and haplotype association were evaluated in two different ethnicity groups, non-Hispanic white and Hispanic white. Results Homozygosity for the minor alleles of the SNPs studied (rs652021, rs665306, rs667555, rs4621 and rs11227332 appeared to produce an increased risk for spina bifida. Subjects with the haplotype composed of all minor alleles (CCGGT appeared to have increased spina bifida risk (OR = 1.6, 95% CI: 0.9~2.9, however, this finding is not statistically significant likely due to limited sample size. Conclusion The sequence variation of human CFL1 gene is a genetic modifier for spina bifida risk in this California population.

Restrictions in social participation of young adults with spina bifida

NARCIS (Netherlands)

Barf, H. A.; Post, M. W. M.; Verhoef, M.; Jennekens-Schinkel, A.; Gooskens, R. H. J. M.; Prevo, A. J. H.

2009-01-01

Purpose. To determine participation restrictions of young adults with spina bifida (SB) in relation to health condition and activity limitations. Method. A total of 179 persons aged 16-25 years and born with SB participated in a cross-sectional study. The main outcome on four domains of

Marjolin's ulcers: theories, prognostic factors and their peculiarities in spina bifida patients

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Nthumba Peter M

2010-12-01

Full Text Available Abstract Background Due to improved care, more and more children born with spina bifida in rural Kenya are surviving into adulthood. This improved survival has led to significant challenges in their lifestyles, especially the need to ensure pressure ulcer prevention and treatment. Malignant degeneration of pressure ulcers in spina bifida patients is very rare. The author describes the clinical presentation of two pressure ulcer carcinomas that are at variance from classical descriptions. Materials and methods An internet/Medline/PubMed search of English literature for theories on Marjolin's ulcer evolution and prognostic features of Marjolin's ulcers was performed. A chart review of two young adults with spina bifida who had presented to the author's hospital between 2004 and August 2010 with chronic pressure ulcers found to be Marjolin's ulcers on histo-pathological examination was performed, and the clinical features are reported. Results The two ulcers appeared clinically benign: one was a deep ulcer, while the other was shallow; both had normal, benign-appearing edges, and a foul smelling discharge. The two ulcers were surrounded by induration and multiple communicating sinuses, with no evidence of chronic osteomyelitis. The internet search revealed a total of nine theories on Marjolin's ulcer development, as well as seven clinical and four histological prognostic features. Discussion The multifactorial theory, a coalescence of a number of proposed theories, best explains the evolution of Marjolin's ulcers. Poor prognostic features include pressure ulcer carcinomas, lesions and location in the lower limbs/trunks, all present in the two patients making their prognosis dim: this is despite the surgical margins being clear of tumor. Benign appearance, induration and presence of multiple communicating sinuses are features that have not been previously described as presenting features of pressure ulcers carcinomas. Conclusion There is need for

[Orthopedic management of spina bifida].

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Biedermann, R

2014-07-01

Spina bifida is associated with congenital deformities, such as kyphosis, spinal malformations, teratological hip dislocations, clubfeet, vertical talus and also with acquired deformities due to muscle imbalance and impaired biomechanics. The degree of the acquired deformities and the mobility of the patient depend on the level of the spinal lesion. Neurological symptoms are mostly asymmetric and there is an inconsistent correlation between the anatomical level of the lesion and muscle function. Deficits of sensation are usually one to two levels lower than the motor level. An exact neurological diagnosis should not be made before the second or third year of life and an early prognosis about walking ability should be avoided. The level L3 and therefore function of the quadriceps is a functional milestone after which modified independent ambulation with the use of ankle foot orthoses (AFO) and crutches is possible. The basic principle is to support verticalization and gait even when loss of ambulation is later expected. It is also important to support and maintain sitting ability for high lesions, if necessary with correction of the spinal deformity. Findings in gait analysis have shifted the focus of treatment from radiological criteria to functional improvement, thus maintenance of the flexibility of the hip is the main goal of hip surgery. Reduction of the hip often leads to stiffness and has a high redislocation rate. Clubfoot deformities should be treated early and foot arthrodesis and stiffness have to be avoided. Another focus is the prevention of joint contracture by early prophylactic treatment. The purpose of management is to maximize the functional potential of the child. Subjective well-being, absence of pain, mobility and socialization are the main goals. This does not necessarily imply ambulation; nevertheless, verticalization and associated orthotic management is one major objective of the orthopedic management of spina bifida.

Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005–2010: implications for a neural tube defects surveillance system

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Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

2014-01-01

Introduction Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Methods Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. Results From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Conclusion Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya. PMID:26113894

Primary care providers and medical homes for individuals with spina bifida.

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Walker, William O

2008-01-01

The contributions of primary care providers to the successful care of children with spina bifida cannot be underestimated. Overcoming systemic barriers to their integration into a comprehensive care system is essential. By providing routine and disability specific care through the structure of a Medical Home, they are often the first line resource and support for individuals and their families. The Medical Home model encourages primary care providers to facilitate discussions on topics as varied as education and employment. Knowledge of specific medical issues unique to this population allows the primary care provider to complement the efforts of other specialty clinics and providers in often neglected areas such as sexual health, obesity and latex sensitization. As individuals with spina bifida live into adulthood, and access to traditional multidisciplinary care models evolves, these skills will take on increasing importance within the scope of providing comprehensive and coordinated care.

Mood-Stabilizing Anticonvulsants, Spina Bifida, and Folate Supplementation: Commentary.

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Patel, Neil; Viguera, Adele C; Baldessarini, Ross J

2018-02-01

High risks of neural tube defects and other teratogenic effects are associated with exposure in early pregnancy to some anticonvulsants, including in women with bipolar disorder. Based on a semistructured review of recent literature, we summarized findings pertaining to this topic. Valproate and carbamazepine are commonly used empirically (off-label) for putative long-term mood-stabilizing effects. Both anticonvulsants have high risks of teratogenic effects during pregnancy. Risks of neural tube defects (especially spina bifida) and other major malformations are especially great with valproate and can arise even before pregnancy is diagnosed. Standard supplementation of folic acid during pregnancy can reduce risk of spontaneous spina bifida, but not that associated with valproate or carbamazepine. In contrast, lamotrigine has regulatory approval for long-term use in bipolar disorder and appears not to have teratogenic effects in humans. Lack of protective effects against anticonvulsant-associated neural tube defects by folic acid supplements in anticipation of and during pregnancy is not widely recognized. This limitation and high risks of neural tube and other major teratogenic effects, especially of valproate, indicate the need for great caution in the use of valproate and carbamazepine to treat bipolar disorder in women of child-bearing age.

Work participation among young adults with spina bifida in the Netherlands

NARCIS (Netherlands)

van Mechelen, M. C.; Verhoef, M.; van Asbeck, F. W. A.; Post, M. W. M.

2008-01-01

The aim of this study was to: (1) assess work participation among young adults with spina bifida, (2) identify problems perceived in finding employment, and (3) examine which determinants are related to work participation. This cross-sectional study was a follow-up study to the Adolescents with

The Management and Education of Children with Spina Bifida and Hydrocephalus.

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Andrews, Robert J.; Elkins, John

The report describes the population of children in Australia with spina bifida and/or hydrocephalus, notes their needs and characteristics, reviews their school placement and social circumstances, and considers future educational services for them. Initial chapters review the literature on medical, psychoeducational, and social-family aspects of…

A comparison between placental and amniotic mesenchymal stem cells for transamniotic stem cell therapy (TRASCET) in experimental spina bifida.

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Feng, Christina; D Graham, Christopher; Connors, John Patrick; Brazzo, Joseph; Zurakowski, David; Fauza, Dario O

2016-06-01

We compared placental-derived and amniotic fluid-derived mesenchymal stem cells (pMSCs and afMSCs, respectively) in transamniotic stem cell therapy (TRASCET) for experimental spina bifida. Pregnant dams (n=29) exposed to retinoic acid for the induction of fetal spina bifida were divided into four groups. Three groups received volume-matched intraamniotic injections of either saline (n=38 fetuses) or a suspension of 2×10(6) cells/mL of syngeneic, labeled afMSCs (n=73) or pMSCs (n=115) on gestational day 17 (term=21-22days). Untreated fetuses served as controls. Animals were killed before term. Statistical comparisons were by Fisher's exact test (pcell source for TRASCET as a potential alternative in the prenatal management of spina bifida. Copyright © 2016 Elsevier Inc. All rights reserved.

Altered expression of 14-3-3ζ protein in spinal cords of rat fetuses with spina bifida aperta.

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Li-na Wu

Full Text Available BACKGROUND: A large number of studies have confirmed that excessive apoptosis is one of the reasons for deficient neuronal function in neural tube defects (NTDs. A previous study from our laboratory used 2-D gel electrophoresis to demonstrate that 14-3-3ζ expression was low in the spinal cords of rat fetuses with spina bifida aperta at embryonic day (E 17. As a member of the 14-3-3 protein family, 14-3-3ζ plays a crucial role in the determination of cell fate and anti-apoptotic activity. However, neither the expression of 14-3-3ζ in defective spinal cords, nor the correlation between 14-3-3ζ and excessive apoptosis in NTDs has been fully confirmed. METHODOLOGY/PRINCIPAL FINDINGS: We used immunoblotting and quantitative real-time PCR (qRT-PCR to quantify the expression of 14-3-3ζ and double immunofluorescence to visualize 14-3-3ζ and apoptosis. We found that, compared with controls, 14-3-3ζ was down-regulated in spina bifida between E12 and E15. Excessive apoptotic cells and low expression of 14-3-3ζ were observed in the dorsal region of spinal cords with spina bifida during the same time period. To initially explore the molecular mechanisms of apoptosis in NTDs, we investigated the expression of microRNA-7 (miR-7, microRNA-375 (miR-375 and microRNA-451 (miR-451, which are known to down-regulate 14-3-3ζ in several different cell types. We also investigated the expression of p53, a molecule that is downstream of 14-3-3ζ and can be down-regulated by it. We discovered that, in contrast to the reduction of 14-3-3ζ expression, the expression of miR-451, miR-375 and p53 increased in spina bifida rat fetuses. CONCLUSIONS/SIGNIFICANCE: These data suggest that the reduced expression of 14-3-3ζ plays a role in the excessive apoptosis that occurs in spina bifida and may be partly regulated by the over-expression of miR-451 and miR-375, and the consequent up-regulation of p53 might further promote apoptosis in spina bifida.

Paternal exposure to Agent Orange and spina bifida: a meta-analysis

International Nuclear Information System (INIS)

Ngo, Anh Duc; Taylor, Richard; Roberts, Christine L.

2010-01-01

The objective of this study is to conduct a meta-analysis of published and unpublished studies that examine the association between Agent Orange (AO) exposure and the risk of spina bifida. Relevant studies were identified through a computerized literature search of Medline and Embase from 1966 to 2008; a review of the reference list of retrieved articles and conference proceedings; and by contacting researchers for unpublished studies. Both fixed-effects and random-effects models were used to pool the results of individual studies. The Cochrane Q test and index of heterogeneity (I 2 ) were used to evaluate heterogeneity, and a funnel plot and Egger's test were used to evaluate publication bias. Seven studies, including two Vietnamese and five non-Vietnamese studies, involving 330 cases and 134,884 non-cases were included in the meta-analysis. The overall relative risk (RR) for spina bifida associated with paternal exposure to AO was 2.02 (95% confidence interval [CI]: 1.48-2.74), with no statistical evidence of heterogeneity across studies. Non-Vietnamese studies showed a slightly higher summary RR (RR = 2.22; 95% CI: 1.38-3.56) than Vietnamese studies (RR = 1.92 95% CI: 1.29-2.86). When analyzed separately, the overall association was statistically significant for the three case-control studies (Summary Odds Ratio = 2.25, 95% CI: 1.31-3.86) and the cross sectional study (RR = 1.97, 95% CI: 1.31-2.96), but not for the three cohort studies (RR: 2.11; 95% CI: 0.78-5.73). Paternal exposure to AO appears to be associated with a statistically increased risk of spina bifida.

Peculiarities in cases of spina bifida cystica managed recently in south-east Nigeria: could antimalarial drugs be a major but unrecognized etiologic factor?

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Emejulu, Jude-Kennedy C; Okwaraoha, Blaise Ogedi

2011-01-01

Spina bifida is a long-known disease arising from the incomplete fusion of the caudal neuropore in the first month of intrauterine life. It is thought to have a multifactorial etiology, the most important of which is folic acid deficiency. In evaluating its etiology, the role of antifolate agents like antimalarial drugs is rarely given a strong mention. This is a 44-month prospective study of consecutive cases of spina bifida cystica presenting to the Neurosurgery Unit of Nnamdi Azikiwe University Teaching Hospital, Nnewi, South-East Nigeria. Data collection was with a structured proforma from presentation, and collation done with Microsoft Excel broadsheet and data analysis with SPSS and χ2 test. A total of 41 cases of spina bifida were attended to within the period, with 92.7% cases of spina bifida cystica. Most presented by >12-24 months, with a consistent history of maternal ingestion of antimalarial drugs during the first trimester of pregnancy. Spina bifida cystica was diagnosed mostly in children whose mothers ingested antimalarial drugs during the first trimester of gestation. There may be a need to critically evaluate the contribution of antimalarial drugs to the etiopathogenesis of this malformation and develop safer antimalarial treatment in pregnancy. Copyright © 2012 S. Karger AG, Basel.

Physical fitness and physical behavior in (wheelchair-using) youth with spina bifida

NARCIS (Netherlands)

Bloemen, M.A.T.

2017-01-01

Associations between low physical fitness, unfavorable physical behavior and higher cardiovascular and overall mortality are well known. Children with a physical disability like spina bifida (SB) are at high risk of decreased levels of physical fitness and unfavorable physical behavior. They seem to

Spina bifida: implications for cognitive functioning, disability and health in young adults

NARCIS (Netherlands)

Barf, H.A.

2008-01-01

Spina bifida is a developmental birth defect involving the neural tube. It can result in a variety of problems, amongst them incontinence, restrictions of mobility and restrictions of cognitive functioning, depending on the severity of the defect. Due to improvements in medical care, the life

Physical fitness, ambulation en physical activity in ambulatory children with spina bifida

NARCIS (Netherlands)

Groot, J.F. de

2010-01-01

Children with chronic disease or child-onset disability, like Spina Bifida (SB) are at increased risk of being inactive. Earlier studies in adolescents and young adults, have found correlations between an inactive lifestyle and lower levels of aerobic fitness. A second important issue being raised

Presurgical assessment of spina bifida

International Nuclear Information System (INIS)

Stack, J.P.; Fitzgerald, P.; Redmond, O.; Ennis, J.T.

1989-01-01

Twenty-five children (mean age, 8 years) with spina bifida (occult in 10), who were under active consideration for surgical intervention became of clinical deterioration have been assessed with MR imaging. T1-weighted spin-echo (SE) images (500/17 [repetition time msec/echo time msec]) were obtained in at least two planes. T2-weighted SE sequences were reserved for further tissue characterization. Anomalies detected requiring surgical review included diastematomyelia (n = 6), tethered cord (n = 10), hydromyelia (n = 4), and cord cyst (n = 1). Eight were not considered for surgery (cord atrophy and small hydromyelias). Diastem spurs were best identified on CT. MR imaging provided accurate preoperative assessment (11 of 13 cases) and will replace invasive tests, which should now be reserved for those cases where MR imaging does not elucidate the clinical signs

Neuroependymal Denudation is in Progress in Full-term Human Foetal Spina Bifida Aperta

NARCIS (Netherlands)

Sival, Deborah A.; Guerra, Montserrat; den Dunnen, Wilfred F. A.; Batiz, Luis F.; Alvial, Genaro; Castaneyra-Perdomo, Agustin; Rodriguez, Esteban M.

In human spina bifida aperta (SBA), cerebral pathogenesis [hydrocephalus, Sylvius aqueduct (SA) stenosis and heterotopias] is poorly understood. In animal models, loss of ventricular lining (ependymal denudation) causes SA stenosis and hydrocephalus. We aimed to investigate whether ependymal

Factors Associated With Pressure Ulcers in Individuals With Spina Bifida

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Kim, Sunkyung; Ward, Elisabeth; Dicianno, Brad E.; Clayton, Gerald H.; Sawin, Kathleen J.; Beierwaltes, Patricia; Thibadeau, Judy

2015-01-01

Objective To describe factors associated with pressure ulcers in individuals with spina bifida (SB) enrolled in the National Spina Bifida Patient Registry (NSBPR). Design Unbalanced longitudinal multicenter cohort study. Setting Nineteen SB clinics. Participants Individuals with SB (N=3153) enrolled in 19 clinic sites that participate in the NSBPR. Interventions Not applicable. Main Outcome Measures Pressure ulcer status (yes/no) at the annual visit between 2009 and 2012. Results Of 3153 total participants, 19% (n=603) reported ulcers at their most recent annual clinic visit. Seven factors–level of lesion, wheelchair use, urinary incontinence, shunt presence, above the knee orthopedic surgery, recent surgery, and male sex–were significantly associated with the presence of pressure ulcers. Of these factors, level of lesion, urinary incontinence, recent surgery, and male sex were included in the final logistic regression model. The 3 adjusting variables–SB type, SB clinic, and age group–were significant in all analyses (all Ppressure ulcers. Identifying key factors associated with the onset of pressure ulcers can be incorporated into clinical practice in ways that prevent and enhance treatment of pressure ulcers in the population with SB. PMID:25796136

Resilience, self-esteem and self-compassion in adults with spina bifida.

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Hayter, M R; Dorstyn, D S

2014-02-01

Cross-sectional survey. To examine factors that may enhance and promote resilience in adults with spina bifida. Community-based disability organisations within Australia. Ninety-seven adults with a diagnosis of spina bifida (SB) completed a survey comprising of demographic questions in addition to standardised self-report measures of physical functioning (Craig Handicap Assessment and Reporting Technique), resilience (Connor-Davidson Resilience Scale, 10 item), self-esteem (Rosenberg Self-esteem Scale), self-compassion (Self-compassion Scale) and psychological distress (Depression Anxiety Stress Scales, 21 item). The majority (66%) of respondents reported moderate to high resilience. Physical disability impacted on coping, with greater CD-RISC 10 scores reported by individuals who were functionally independent in addition to those who experienced less medical co-morbidities. Significant correlations between resilience and psychological traits (self-esteem r=0.36, Pself-esteem and self-compassion. It follows that cognitive behavioural strategies with a focus on self-management may, in part, contribute to the process of resilience in this group. Further large-scale and longitudinal research will help to confirm these findings.

Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis.

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Atta, Callie A M; Fiest, Kirsten M; Frolkis, Alexandra D; Jette, Nathalie; Pringsheim, Tamara; St Germaine-Smith, Christine; Rajapakse, Thilinie; Kaplan, Gilaad G; Metcalfe, Amy

2016-01-01

Birth defects remain a significant source of worldwide morbidity and mortality. Strong scientific evidence shows that folic acid fortification of a region's food supply leads to a decrease in spina bifida (a birth defect of the spine). Still, many countries around the world have yet to approve mandatory fortification through government legislation. We sought to perform a systematic review and meta-analysis of period prevalence of spina bifida by folic acid fortification status, geographic region, and study population. An expert research librarian used terms related to neural tube defects and epidemiology from primary research from 1985 to 2010 to search in EMBASE and MEDLINE. We searched the reference lists of included articles and key review articles identified by experts. Inclusion criteria included studies in English or French reporting on prevalence published between January 1985 and December 2010 that (1) were primary research, (2) were population-based, and (3) reported a point or period prevalence estimate of spina bifida (i.e., prevalence estimate with confidence intervals or case numerator and population denominator). Two independent reviewers screened titles and abstracts for eligible articles, then 2 authors screened full texts in duplicate for final inclusion. Disagreements were resolved through consensus or a third party. We followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses, or PRISMA, abstracting data related to case ascertainment, study population, folic acid fortification status, geographic region, and prevalence estimate independently and in duplicate. We extracted overall data and any subgroups reported by age, gender, time period, or type of spina bifida. We classified each period prevalence estimate as "mandatory" or "voluntary" folic acid fortification according to each country's folic acid fortification status at the time data were collected (as determined by a well-recognized fortification monitoring body, Food

Spina bifida and cleft lip among newborns of Norwegian women with epilepsy: changes related to the use of anticonvulsants.

Science.gov (United States)

King, P B; Lie, R T; Irgens, L M

1996-01-01

OBJECTIVES: This study examined the connection between the use of anticonvulsants for epilepsy during or before pregnancy and the risk of spina bifida and cleft lip in newborns. METHODS: Among mothers registered from 1967 to 1992 by the Medical Birth Registry of Norway, 7588 who had epilepsy were identified and their newborns' prevalence of spina bifida and cleft lip examined. RESULTS: The odds ratio of spina bifida in children of mothers with epilepsy compared with other children increased from 1.5 in 1967 through 1980 (95% confidence interval [CI] = 0.3, 4.5) to 4.4 in 1981 through 1992 (95% CI = 2.0, 8.5). The odds ratio of cleft lip, however, decreased from 3.0 before 1981 (95% CI = 1.6, 5.1) to 1.1 after 1981 (95% CI = 0.4, 2.3). CONCLUSIONS: This shift toward more serious birth defects is consistent with the different teratogenic effects of newer and older anticonvulsants. PMID:8876519

Medical adherence in young adolescents with spina bifida: longitudinal associations with family functioning.

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Stepansky, Mona A; Roache, Caitlin R; Holmbeck, Grayson N; Schultz, Karen

2010-03-01

The purpose of this study was 2-fold: (1) to explore the transfer of responsibility of medical tasks from parent to child during the transition to adolescence, and (2) to examine the associations between family functioning and medical adherence in youth with spina bifida. Seventy families of children with spina bifida participated in this study. Data were collected during family interaction sessions by using questionnaires completed by mothers, fathers, youth, teachers and health professionals. Findings suggest that responsibility for medical regimens transfers gradually from parent to child over time. Additionally, family conflict and cohesion were correlated with medical adherence. Finally, family conflict over medical issues was related to a decrease in medical adherence over time. Results suggest that as youth take more responsibility over their medical regimens, family conflict regarding medical issues becomes a contributor to their adherence behaviors. Interventions that target family conflict may facilitate adherence behaviors.

A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida

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Williams Helen

2008-04-01

Full Text Available Abstract This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of

Neurological bypass for sensory innervation of the penis in patients with spina bifida

NARCIS (Netherlands)

Overgoor, Max L. E.; Kon, Moshe; Cohen-Kettenis, Peggy T.; Strijbos, Saskia A. M.; de Boer, Niels; de Jong, Tom P. V. M.

2006-01-01

Most male patients with spina bifida have normal sexual desires. During puberty they begin to realize that they can achieve erection and sexual intercourse but without any sensation in the penis. We hypothesized that restored sensation in the penis would greatly contribute to their quality of life

A reproductive history of mothers with spina bifida offspring-a new look at old issues

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Farley Thomas L

2006-08-01

Full Text Available Abstract Background Spina bifida is a disorder of the cerebrospinal fluid system associated with failure of neural tube closure in the fetus. Reproductive history studies of mothers with spina bifida offspring have often been conducted shortly after the affected child's birth. In this study, a large group of community-based mothers were studied after most had completed their families. The aims were to present a more comprehensive reproductive history and to test several hypotheses regarding the nature of spina bifida. Methods Data from 271 mothers was collected by interview 18.3 mean years after the affected child's birth. Data analysis was by χ-square, Fisher exact test and t test with a p value less than 0.05 considered significant. Results Females made up 56.5% of affected offspring (probands and 53.1% of unaffected offspring. The spina bifida and anencephaly recurrence rate was 4.0%. The twinning rate was 8.6/1000 live births. 24.4% of mothers had a history of spontaneous abortion and the rate varied by pregnancy order from 87 to 185/1000 live births. Duration of pregnancies subsequent to probands was shorter for female than male probands. Mean birth weight of probands with high lesions exceeded those with low lesions. A spontaneous abortion preceded female probands more often than males as compared to live births. Affected males with high lesions conceived by white mothers were at greater risk to be spontaneously aborted. Previous inter-gestational interval for mothers with no history of spontaneous abortion was longer for probands than unaffected offspring but not for mothers with a history of spontaneous abortion. Conclusion Overall, and for every major subgroup of these mothers, more affected and unaffected female than male offspring were born. Differences by gender and lesion level among probands and between probands and unaffected offspring were consistent with an etiology of unknown genetic factors, hormonal and/or immune system

Posterior brain in fetuses with open spina bifida at 11 to 13 weeks.

Science.gov (United States)

Lachmann, Robert; Chaoui, Rabih; Moratalla, Jose; Picciarelli, Gemma; Nicolaides, Kypros H

2011-01-01

To measure the changes in the posterior fossa in first-trimester fetuses with open spina bifida (OSB). The brain stem diameter and brain stem to occipital bone (BSOB) diameter were measured in stored images of the mid-sagittal view of the fetal face at 11(+0) to 13(+6) weeks from 30 fetuses with OSB and 1000 normal controls. In the control group, the brain stem and BSOB diameter increased significantly with crown-rump length (CRL) and the brain stem to BSOB ratio decreased. In the spina bifida group, the brain stem diameter was above the 95th percentile of the control group in 29 (96.7%) cases, the BSOB diameter was below the 5th percentile in 26 (86.7%) and the brain stem to BSOB ratio was above the 95th percentile in all cases. At 11 to 13 weeks the majority of fetuses with OSB have measurable abnormalities in the posterior brain.

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound

OpenAIRE

Pei-Yin Yang; Ching-Hua Wu; Guang-Perng Yeh; Charles Tsung-Che Hsieh

2015-01-01

Objective: Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. Case report: A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diproso...

“I Like to Play with My Friends”: Children with Spina Bifida and Belonging in Uganda

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Femke Bannink

2016-06-01

Full Text Available This paper describes experiences of living and belonging from the perspectives of Ugandan children with spina bifida and their siblings and parents. We explored belonging at micro, meso and macro level taking into consideration African Childhood Disability Studies, central concepts of family, cultural conceptions of disability, poverty, and the notion of ‘ubuntu’, and using child-friendly culturally adjusted interview methods including play. Whilst children with spina bifida had a strong sense of belonging at household level, they experienced more difficulties engaging in larger social networks, including school. Poverty and stigma were important barriers to inclusion. We propose strengthening the network at family level, where the environment is more enabling for the children to find a place of belonging and support, and expanding investment and awareness at community and national level.

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

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Shaw Gary M

2009-06-01

Full Text Available Abstract Background Folic acid taken in early pregnancy reduces risks for delivering offspring with several congenital anomalies. The mechanism by which folic acid reduces risk is unknown. Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism. Methods Using data from a California population-based registry, we investigated whether risks of spina bifida or conotruncal heart defects were influenced by 118 single nucleotide polymorphisms (SNPs associated with the complex folate pathway. This case-control study included 259 infants with spina bifida and a random sample of 359 nonmalformed control infants born during 1983–86 or 1994–95. It also included 214 infants with conotruncal heart defects born during 1983–86. Infant genotyping was performed blinded to case or control status using a designed SNPlex assay. We examined single SNP effects for each of the 118 SNPs, as well as haplotypes, for each of the two outcomes. Results Few odds ratios (ORs revealed sizable departures from 1.0. With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous relative to the reference genotype: BHMT (rs3733890 OR = 1.8 (1.1–3.1, CBS (rs2851391 OR = 2.0 (1.2–3.1; CBS (rs234713 OR = 2.9 (1.3–6.7; MTHFD1 (rs2236224 OR = 1.7 (1.1–2.7; MTHFD1 (hcv11462908 OR = 0.2 (0–0.9; MTHFD2 (rs702465 OR = 0.6 (0.4–0.9; MTHFD2 (rs7571842 OR = 0.6 (0.4–0.9; MTHFR (rs1801133 OR = 2.0 (1.2–3.1; MTRR (rs162036 OR = 3.0 (1.5–5.9; MTRR (rs10380 OR = 3.4 (1.6–7.1; MTRR (rs1801394 OR = 0.7 (0.5–0.9; MTRR (rs9332 OR = 2.7 (1.3–5.3; TYMS (rs2847149 OR = 2.2 (1.4–3.5; TYMS (rs1001761 OR = 2.4 (1.5–3.8; and TYMS (rs502396 OR = 2.1 (1.3–3.3. However, multiple SNPs observed for a given gene showed evidence of linkage disequilibrium indicating

Spinal hemorrhages are associated with early neonatal motor function loss in human spina bifida aperta

NARCIS (Netherlands)

Sival, Deborah; Verbeek, R. J.; Brouwer, O. F.; Sollie, K. M.; Bos, A. F.; den Dunnen, W. F. A.

Background: In spina bifida aperta (SBA), leg movements caudal to the meningomyelocele are present in utero, but they disappear shortly after birth. It is unclear whether leg movements disappear by impact of the neuro-developmental malformation or by superimposed traumatic damage. If superimposed

A Pregnant Woman with Spina Bifida: Need for a Multidisciplinary Labor Plan

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Mary Angela O’Neal

2017-10-01

Full Text Available Women with spina bifida present both obstetrical and anesthesia challenges. They are more likely to require a caesarian delivery and traditionally neuraxial anesthesia has been avoided due to concerns of worsening neurologic disability. The case of a pregnant woman with a history of a surgically corrected lipomeningocele and tethered cord is presented to illustrate the need for a comprehensive labor plan.

The Language of Children with Spina Bifida and Hydrocephalus: Meeting Task Demands and Mastering Syntax.

Science.gov (United States)

Byrne, Karen; And Others

1990-01-01

Linguistic performance of 7 children (mean age=68 months) with spina bifida, hydrocephalus, and average intelligence was evaluated. Subjects dealt with the semantic-pragmatic requirements of linguistically posed problems in an age-appropriate manner. Performance declined as task demands increased but no more than performance of nondisabled…

Surrogate Pregnancy After Prenatal Diagnosis of Spina Bifida.

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Mazur, Lynnette J; Kisthardt, Mary Kay; Kim, Helen H; Rosas, Laura M; Lantos, John D

2017-02-01

Some pregnancies today involve infertile individuals or couples who contract with a fertile woman to carry a pregnancy for them. The woman who carries the pregnancy is referred to as a "gestational carrier." The use of such arrangements is increasing. Most of the time, these arrangements play out as planned; sometimes, however, problems arise. This article discusses a case in which a fetal diagnosis of spina bifida led the infertile couple to request that the gestational carrier terminate the pregnancy, and the gestational carrier did not wish to do so. Experts in the medical and legal issues surrounding surrogacy discuss the considerations that should go into resolving such a conflict. Copyright © 2017 by the American Academy of Pediatrics.

Bowel Management and Quality of Life in Children With Spina Bifida in South Korea.

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Choi, Eun Kyoung; Im, Young Jae; Han, Sang Won

Bowel management is a concern in patients with spina bifida. We evaluated the status of bowel management in children with spina bifida (SB) and the effects on quality of life (QoL) of children and their caregivers. Data were collected from 173 children with SB between January and June 2011, whose bowel management status and QoL were assessed using a self-administered questionnaire. Of the 173 children, 38 (22.0%) reported normal defecation, 73 (42.2%) reported constipation only, and 62 (35.8%) reported fecal incontinence with/without constipation. For defecation, 59 children (34.1%) used digital stimulation or manual extraction, 28 (16.2%) used suppositories or enemas, 35 (20.3%) used laxatives, 4 (2.3%) used an antegrade continence enema, and 3 (1.7%) used transanal irrigation. There were significant differences in QoL, depending on defecation symptoms. Children with fecal incontinence and their caregivers had difficulties in travel and socialization (p children with SB and their caregivers. Therefore, more attention should be paid to bowel problems and help should be provided to children and their caregivers to improve QoL.

Is continence status associated with quality of life in young children with spina bifida?

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Freeman, Kurt A; Smith, Kathryn; Adams, Elizabeth; Mizokawa, Stacey; Neville-Jan, Ann

2013-01-01

To evaluate the relationship between child- and parent-reported quality of life (QOL) and bowel and bladder continence among young children with spina bifida (SB). 104 children ages 5-12 years and one of their parents/guardians completed the Pediatric Quality of Life Inventory - Generic Form (PedsQL; parent and child) and the Quality of Life in Spina Bifida Questionnaire (QOLSBQ, parent only). Data on continence, child age, and condition-specific variables were obtained by chart review. Parent and child QOL scores (on all measures of QOL) were positively correlated; parents rated child QOL lower than children's self report. QOL scores did not differ based on continence status. Total PedsQL scores were associated with age and mobility based on child report and with mobility based on parent report. QOL may not be affected by continence status among young children with SB, though demographic (i.e., age) and condition-specific (i.e., functional mobility status) variables appear relevant. Additional research is needed to further evaluate condition-specific variables, other protective variables, and possible measurement issues that influence QOL in young children with SB.

Arm cranking versus wheelchair propulsion for testing aerobic fitness in children with spina bifida who are wheelchair dependent.

Science.gov (United States)

Bloemen, Manon A T; de Groot, Janke F; Backx, Frank J G; Westerveld, Rosalyne A; Takken, Tim

2015-05-01

To determine the best test performance and feasibility using a Graded Arm Cranking Test vs a Graded Wheelchair Propulsion Test in young people with spina bifida who use a wheelchair, and to determine the reliability of the best test. Validity and reliability study. Young people with spina bifida who use a wheelchair. Physiological responses were measured during a Graded Arm Cranking Test and a Graded Wheelchair Propulsion Test using a heart rate monitor and calibrated mobile gas analysis system (Cortex Metamax). For validity, peak oxygen uptake (VO2peak) and peak heart rate (HRpeak) were compared using paired t-tests. For reliability, the intra-class correlation coefficients, standard error of measurement, and standard detectable change were calculated. VO2peak and HRpeak were higher during wheelchair propulsion compared with arm cranking (23.1 vs 19.5 ml/kg/min, p = 0.11; 165 vs 150 beats/min, p propulsion showed high intra-class correlation coefficients (ICCs) for both VO2peak (ICC = 0.93) and HRpeak (ICC = 0.90). This pilot study shows higher HRpeak and a tendency to higher VO2peak in young people with spina bifida who are using a wheelchair when tested during wheelchair propulsion compared with arm cranking. Wheelchair propulsion showed good reliability. We recommend performing a wheelchair propulsion test for aerobic fitness testing in this population.

Validity and reliability of skill-related fitness tests for wheelchair-using youth with Spina Bifida.

NARCIS (Netherlands)

Bloemen, M.A.; Takken, T.; Backx, F.J.; Vos, M.; Kruitwagen, C.L.; Groot, J.F. de

2017-01-01

Objectives: To determine content validity of the Muscle Power Sprint Test (MPST), and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test, and One Stroke Push Test (1SPT) in wheelchair-using youth with spina bifida (SB). Design: Clinimetric study. Setting:

Validity and Reliability of Skill-Related Fitness Tests for Wheelchair-Using Youth With Spina Bifida

NARCIS (Netherlands)

Bloemen, Manon A.; Takken, Tim; Backx, Frank J.; Vos, Marleen; Kruitwagen, Cas L.; de Groot, Janke F.

OBJECTIVE: To determine content validity of the Muscle Power Sprint Test (MPST) and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test and one stroke push test (1SPT) in wheelchair-using youth with spina bifida (SB). DESIGN: Clinimetric study SETTING:

Validity and Reliability of Skill-Related Fitness Tests for Wheelchair-Using Youth with Spina Bifida

NARCIS (Netherlands)

Cas L.J.J. Kruitwagen; Frank J.G. Backx; Tim Takken; Janke de Groot; Marleen Vos; Manon A.T. Bloemen

2016-01-01

Objective: To determine content validity of the Muscle Power Sprint Test (MPST) and construct validity and reliability of the MPST, 10x5 Meter Sprint Test (10x5MST), slalom test and one stroke push test (1SPT) in wheelchair-using youth with spina bifida (SB). Design: Clinimetric study Setting:

Small renal size in newborns with spina bifida: possible causes.

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Montaldo, Paolo; Montaldo, Luisa; Iossa, Azzurra Concetta; Cennamo, Marina; Caredda, Elisabetta; Del Gado, Roberto

2014-02-01

Previous studies reported that children with neural tube defects, but without any history of intrinsic renal diseases, have small kidneys when compared with age-matched standard renal growth. The aim of this study was to investigate the possible causes of small renal size in children with spina bifida by comparing growth hormone deficiency, physical limitations and hyperhomocysteinemia. The sample included 187 newborns with spina bifida. Renal sizes in the patients were assessed by using maximum measurement of renal length and the measurements were compared by using the Sutherland monogram. According to the results, the sample was divided into two groups--a group of 120 patients with small kidneys (under the third percentile) and a control group of 67 newborns with normal kidney size. Plasma total homocysteine was investigated in mothers and in their children. Serum insulin-like growth factor-1 (IGF-1) levels were measured. Serum IGF-1 levels were normal in both groups. Children and mothers with homocysteine levels >10 μmol/l were more than twice as likely to have small kidneys and to give to birth children with small kidneys, respectively, compared with newborns and mothers with homocysteine levels <10 μmol/l. An inverse correlation was also found between the homocysteine levels of mothers and kidney sizes of children (r = - 0.6109 P ≤ 0.01). It is highly important for mothers with hyperhomocysteinemia to be educated about benefits of folate supplementation in order to reduce the risk of small renal size and lower renal function in children.

Mother and Child Depressive Symptoms in Youth with Spina Bifida: Additive, Moderator, and Mediator Models

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Schellinger, Kriston B.; Holmbeck, Grayson N.; Essner, Bonnie S.; Alvarez, Renae

2012-01-01

The purpose of the study was to examine the extent to which parenting behaviors influence the relation between maternal and child depressive symptoms in youth with spina bifida and a comparison sample. Previous research has found that maternal depression not only negatively impacts the mother-child relationship, but also places the child at risk…

Spina bifida and unilateral focal destruction of the distal femoral epiphysis

Energy Technology Data Exchange (ETDEWEB)

Wolverson, M.K.; Sundaram, M.; Graviss, E.R.

1981-03-01

Focal destruction of the postero-lateral distal femoral epiphysis was present on radiographs in two children with spina bifida and objective lower limb sensory loss. Each patient presented with painless swelling of the knee. In one patient the epiphysis showed sclerosis and fragmentation associated with a defect. In the second patient the destructive change was the dominant radiographic abnormality and simulated bone tumor. Computed tomography in this patient showed a bone fragment occupying the defect suggesting epiphyseal fracture. The lesions in each patient were believed to be traumatic in origin and to represent a stage in the development toward neuropathic arthropathy.

Spina bifida and unilateral focal destruction of the distal femoral epiphysis

International Nuclear Information System (INIS)

Wolverson, M.K.; Sundaram, M.; Graviss, E.R.

1981-01-01

Focal destruction of the postero-lateral distal femoral epiphysis was present on radiographs in two children with spina bifida and objective lower limb sensory loss. Each patient presented with painless swelling of the knee. In one patient the epiphysis showed sclerosis and fragmentation associated with a defect. In the second patient the destructive change was the dominant radiographic abnormality and simulated bone tumor. Computed tomography in this patient showed a bone fragment occupying the defect suggesting epiphyseal fracture. The lesions in each patient was believed to be traumatic in origin and to represent a stage in the development toward neuropathic arthropathy. (orig.)

Does folic acid use decrease the risk for spina bifida after in utero exposure to valproic acid?

NARCIS (Netherlands)

Jentink, J.; Bakker, M.K.; Nijenhuis, C.M.; Wilffert, B.; de Jong-van den Berg, L.T.W.

Purpose Women with child wish are advised to take folic acid supplements to reduce the risk for spina bifida. However, there is less evidence for this protective effect in women using valproic acid (VPA). We investigated the effect of folic acid in women exposed to VPA in the first trimester of

Arm cranking versus wheelchair propulsion for testing aerobic fitness in children with spina bifida who are wheelchair dependent

NARCIS (Netherlands)

Bloemen, Manon A T; De Groot, Janke F.; Backx, FJG; Westerveld, Rosalyne A.; Takken, Tim

2015-01-01

Objective: To determine the best test performance and feasibility using a Graded Arm Cranking Test vs a Graded Wheelchair Propulsion Test in young people with spina bifida who use a wheelchair, and to determine the reliability of the best test. Design: Validity and reliability study. Subjects: Young

Arm cranking versus wheelchair propulsion for testing aerobic fitness in children with spina bifida who are wheelchair dependent.

NARCIS (Netherlands)

Bloemen, M.A.T.; Groot, J.F. de; Backx, F.J.G.; Westerveld, R.A.; Takken, T.

2015-01-01

OBJECTIVE: To determine the best test performance and feasibility using a Graded Arm Cranking Test vs a Graded Wheelchair Propulsion Test in young people with spina bifida who use a wheelchair, and to determine the reliability of the best test. DESIGN: Validity and reliability study. SUBJECTS: Young

Quality of life among children with spina bifida in Uganda.

Science.gov (United States)

Sims-Williams, Helen J; Sims-Williams, Hugh P; Mbabazi Kabachelor, Edith; Warf, Benjamin C

2017-11-01

Children surviving after spina bifida repair often have significant disability, the consequences of which may be more profound in low-income countries. The aim of this cross-sectional study was to measure quality of life (QOL) reported by children with spina bifida in Uganda, and to define factors associated with QOL. QOL was measured using both the Health Utilities Index (HUI3) Tool and a visual analogue scale (VAS) marked from 0 to 10. In keeping with the WHO definition of QOL, further analysis was conducted using subjective QOL scores (using the VAS). Multivariate regression was used to investigate the association between VAS scores and prespecified variables: age, sex, hydrocephalus, mobility, urinary continence, school attendance and family size. Sixty two of 68 surviving children aged 10-14 were able to complete all aspects of the assessment. There was poor correlation between the VAS and HUI3 Tool (Pearson correlation 0.488). On multivariate regression, the following variables were associated with a significant change in the 10-point VAS (change in score; 95% CI): male sex (-1.45; -2.436 to -0.465), urinary continence (1.681; 0.190 to 3.172), large family size (-1.775; -2.773 to -0.777) and hydrocephalus (-1.382; -2.374 to -0.465). Urinary continence and family size are potentially modifiable, the former by simple and inexpensive medical management. Enhanced investment in community-based rehabilitation and support is urgently needed. Delivery of family planning services is a national priority in Uganda, and should be discussed with families as part of holistic care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

First Case of Autonomic Dysreflexia Following Elective Lower Thoracic Spinal Cord Transection in a Spina Bifida Adult.

Science.gov (United States)

Garces, Juanita; Mathkour, Mansour; Scullen, Tyler; Kahn, Lora; Biro, Erin; Pham, Alex; Sulaiman, Olawale A R; Smith, Roger; Bui, Cuong J

2017-12-01

Spinal cord transection is a radical but effective treatment for highly selective cases of symptomatic spinal retethering in paraplegic spina bifida patients. Autonomic dysreflexia (AD) is a potentially life-threatening syndrome involving a dysregulated sympathetic discharge reflex commonly seen following cervical and high thoracic spinal cord injury, leading to a disconnect between autonomic pathways above and below the lesion that can lead to severe complications including uncontrolled hypertension, bradycardia, stroke, and potentially death. Herein we present a case in which a paraplegic spina bifida patient presenting with symptomatic spinal retethering experienced autonomic dysreflexia following an elective spinal cord transection. A 51-year-old male with a history of complex spina bifida presented with an active cerebrospinal fluid leak. Physical examination revealed a thin covering of abnormal epidermis over the large placode. Magnetic resonance imaging revealed a large myelomeningocele defect with posterior element defects spanning from L2 to the sacrum with evidence of tethering. The patient underwent an intradural transection of the spinal cord with a "blind-pouch" closure of the dura at the level of T12/L1. Postoperatively, the patient developed intermittent episodes of hypertension, bradycardia, headaches, altered mental status, severe perspiration, and red flushing of the upper torso, face, and arms. The diagnosis of AD was made clinically and managed with a positive response to a combination of beta- and alpha-blockade along with patient education on avoidance of common AD triggers. At 5-year follow-up the patient has continued to do well on medication. This case highlights a potential major side effect from elective transection of the spinal cord. If unrecognized and untreated, AD can cause significant distress and morbidity. We hope this first case report serves to supplement existing data and aid in future surgical and medical decision

Central Somatosensory Networks Respond to a De Novo Innervated Penis : A Proof of Concept in Three Spina Bifida Patients

NARCIS (Netherlands)

Kortekaas, Rudie; Nanetti, Luca; Overgoor, Max L. E.; de Jong, Bauke M.; Georgiadis, Janniko R.

Introduction. Spina bifida (SB) causes low spinal lesions, and patients often have absent genital sensation and a highly impaired sex life. TOMAX (TO MAX-imize sensation, sexuality and quality of life) is a surgical procedure whereby the penis is newly innervated using a sensory nerve originally

Auditory agnosia due to long-term severe hydrocephalus caused by spina bifida - specific auditory pathway versus nonspecific auditory pathway.

Science.gov (United States)

Zhang, Qing; Kaga, Kimitaka; Hayashi, Akimasa

2011-07-01

A 27-year-old female showed auditory agnosia after long-term severe hydrocephalus due to congenital spina bifida. After years of hydrocephalus, she gradually suffered from hearing loss in her right ear at 19 years of age, followed by her left ear. During the time when she retained some ability to hear, she experienced severe difficulty in distinguishing verbal, environmental, and musical instrumental sounds. However, her auditory brainstem response and distortion product otoacoustic emissions were largely intact in the left ear. Her bilateral auditory cortices were preserved, as shown by neuroimaging, whereas her auditory radiations were severely damaged owing to progressive hydrocephalus. Although she had a complete bilateral hearing loss, she felt great pleasure when exposed to music. After years of self-training to read lips, she regained fluent ability to communicate. Clinical manifestations of this patient indicate that auditory agnosia can occur after long-term hydrocephalus due to spina bifida; the secondary auditory pathway may play a role in both auditory perception and hearing rehabilitation.

A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases

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Nor Linda Abdullah

2017-12-01

Full Text Available Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. EphA2 and EphA4 are expressed at the tips of the closing spinal neural folds prior and during neural tube closure. We investigated the possible role of murine EphA2 and EphA4 during the last step of primary neural tube closure, which is adhesion and fusion. The individual mouse knockouts of EphA2 and EphA4 per se do not exhibit neural tube defects (NTDs. The embryos generated by the crossing of double heterozygotes Epha2tm1Jrui/+Epha4rb-2J/+ displayed NTDs with a wide degree of severity including close exencephaly and close spina bifida (spina bifida occulta. Interestingly, mutants displaying NTDs had skin covering the underlying lesion. The tissue sections revealed the elevated neural folds had not adhered and fused. The phenotypes seen in Epha2tm1Jrui/+Epha4rb-2J/+ double heterozygous embryos suggest both genes play a compensatory role with each other in the adhesion and fusion of the neural tube. In this study, there exists a >50% penetrance of NTDs in the mouse mutants, which genetically have a single allele each of EphA2 and EphA4 absent.

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound.

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Yang, Pei-Yin; Wu, Ching-Hua; Yeh, Guang-Perng; Hsieh, Charles Tsung-Che

2015-12-01

Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diprosopus twins are more illustrative in 3D ultrasound than in 2D ultrasound. After counseling, termination of pregnancy was chosen by the couple. Although necropsy was declined, the gross appearance and radiograph of the abortus confirmed our diagnosis. With the help of 3D ultrasound, we made an early and definitive diagnosis of conjoined twins. Copyright © 2015. Published by Elsevier B.V.

'Die verswygde storie': ’n gevallestudie oor die manifestasie van bates by ’n kleuter met spina bifida miëlomeningoseel

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I. Eloff

2007-07-01

Full Text Available 'The unmentioned story': a case study of the manifestation of assets in a toddler with spina bifida miëlomeningoseel In South Africa a few major discourses with regard to disability can be distinguished. Although these discourses construct disability differently, three of them – the lay, charity and medical discourses – tend to view disability negatively. This article endeavours to challenge the stereotypical “picture” of a person with a disability. By conducting an intrinsic case study the unique intrapersonal assets of a boy (who has a physical disability, spina bifida is identified. An asset-based approach accompanied the research design as a theoretical framework in order to explore whether positive aspects of this boy’s life-world could be identified. This article identifies and embraces the positive side of living with a physical disability and illustrates ways in which positive constructions of an individual with disabilities can be pursued.

Selective and sustained attention in children with spina bifida myelomeningocele

DEFF Research Database (Denmark)

Caspersen, Ida Dyhr; Habekost, Thomas

2013-01-01

distinguish perceptual from response-related components of attention. We used a verbal-report paradigm based on the Theory of Visual Attention (Bundesen, 1990) and a new continuous performance test, the Dual Attention to Response Task (Dockree et al., 2006), for measuring parameters of selective and sustained......Spina bifida myelomeningocele (SBM) is a neural tube defect that has been related to deficits in several cognitive domains including attention. Attention function in children with SBM has often been studied using tasks that are confounded by complex motor demands or tasks that do not clearly...... attention in 6 children with SBM and 18 healthy control children. The two tasks had minimal motor demands, were functionally specific and were sensitive to minor deficits. As a group, the children with SBM were significantly less efficient at filtering out irrelevant stimuli. Moreover, they exhibited...

Increased Sexual Health After Restored Genital Sensation in Male Patients with Spina Bifida or a Spinal Cord Injury: the TOMAX Procedure

NARCIS (Netherlands)

Overgoor, M. L. E.; de Jong, T. P. V. M.; Cohen-Kettenis, P. T.; Edens, M. A.; Kon, M.

2013-01-01

Purpose: In this study we prospectively investigated the contribution of restored penile sensation to sexual health in patients with low spinal lesions. Materials and Methods: In 30 patients (18 with spina bifida, 12 with spinal cord injury, age range 13 to 55 years) with no penile sensation but

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

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Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

Fatores genéticos e ambientais associados a espinha bífida Genetic and ambient factors and profile of the newborns with spina bifida

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Cristiane de Jesus da Cunha

2005-05-01

Full Text Available OBJETIVOS: analisar a freqüência e os fatores associados à ocorrência da espinha bífida. MÉTODOS: os dados foram obtidos por meio de entrevista de 47 casos e 47 controles, nascidos nas cinco maternidades da cidade de Pelotas, durante o período de 1 de Janeiro de 1990 a 31 de Dezembro de 2003. É estudo com delineamento de caso-controle, de base populacional que abrangeu todos os nascimentos hospitalares. O controle foi o neonato normal que nasceu após cada caso com malformação. Todos os dados foram obtidos mediante questionário-modelo. A análise do planejamento de análise de dados incluiu o uso do teste t de Student, chi² e odds ratio. RESULTADOS: ocorreram aproximadamente 77.000 nascimentos nesse período. Desses, 1.043 (1,3% apresentaram algum tipo de malformação congênita. Dentre essas, 47 de 162 anomalias do fechamento do tubo neural foram diagnosticadas como espinha bífida. Foram encontradas diferenças significativas quanto ao número de natimortos prévios, bem como proporção superior de casos de espinha bífida em recém-nascidos do sexo feminino. Neste estudo, muitos fatores como o uso de medicamentos; doenças agudas; afecções crônicas; número de gestações; idade, escolaridade e ocupação dos pais, entre outros, não mostraram associação com o nascimento de recém-nascido com espinha bífida. CONCLUSÕES: a espinha bífida deve ser considerada como importante fator de risco para a morbidade perinatal, e sua ocorrência está associada a um histórico gestacional de natimortos prévios.PURPOSES: to analyze the frequency, associated risk factors for the occurrence of spina bifida and differences between the newborns carrying this malformation and the newborns' morbidities. METHODS: data were obtained through interview of 47 cases and 47 controls, born in the five maternities of the city of Pelotas, during the period from January 1, 1990 to December 31, 2003. This is a population-based case-control study

Surgery on Fetus Reduces Complications of Spina Bifida

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Full Text Available ... bifida, a condition in which the spinal column fails to close around the spinal cord. With myelomeningocele, ... gov/ . The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers ...

Inter-Tester Reliability and Precision of Manual Muscle Testing and Hand-Held Dynamometry in Lower Limb Muscles of Children with Spina Bifida

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Mahony, Kate; Hunt, Adrienne; Daley, Deborah; Sims, Susan; Adams, Roger

2009-01-01

Reliability and measurement precision of manual muscle testing (MMT) and hand-held dynamometry (HHD) were compared for children with spina bifida. Strength measures were obtained of the hip flexors, hip abductors, and knee extensors of 20 children (10 males, 10 females; mean age 9 years 10 months; range: 5 to 15 years) by two experienced physical…

Motor contingency learning and infants with Spina Bifida.

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Taylor, Heather B; Barnes, Marcia A; Landry, Susan H; Swank, Paul; Fletcher, Jack M; Huang, Furong

2013-02-01

Infants with Spina Bifida (SB) were compared to typically developing infants (TD) using a conjugate reinforcement paradigm at 6 months-of-age (n = 98) to evaluate learning, and retention of a sensory-motor contingency. Analyses evaluated infant arm-waving rates at baseline (wrist not tethered to mobile), during acquisition of the sensory-motor contingency (wrist tethered), and immediately after the acquisition phase and then after a delay (wrist not tethered), controlling for arm reaching ability, gestational age, and socioeconomic status. Although both groups responded to the contingency with increased arm-waving from baseline to acquisition, 15% to 29% fewer infants with SB than TD were found to learn the contingency depending on the criterion used to determine contingency learning. In addition, infants with SB who had learned the contingency had more difficulty retaining the contingency over time when sensory feedback was absent. The findings suggest that infants with SB do not learn motor contingencies as easily or at the same rate as TD infants, and are more likely to decrease motor responses when sensory feedback is absent. Results are discussed with reference to research on contingency learning in infants with and without neurodevelopmental disorders, and with reference to motor learning in school-age children with SB.

Daily time management in children with spina bifida.

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Persson, Marika; Janeslätt, Gunnel; Peny-Dahlstrand, Marie

2017-12-11

Spina bifida (SB) often results in a complex disability and can also cause cognitive dysfunction. No previous study has investigated the ability to adapt to time in children with SB. This ability is crucial for an individual's possibility to develop autonomy in life. The purpose of this study was to investigate whether children aged 10-17 with SB have lower time-processing abilities than typically-developing children, and to describe the profile of time-processing in children with SB. Participants comprised a consecutive sample of 21 children (drawn from a geographical cohort of 45) aged 10-17 years (mean: 14 years, SD: 2 years); 13 were boys. The instruments used were KaTid-Y, Time-S, and Time-P. The children with SB had lower time-processing abilities than typically-developing children (52.4% under -2SD), particularly difficulties to orient to and to estimate objective time, to understand time perspectives and with time planning. They also self-rated low use of strategies to adapt to time. The parents rated their children as having extensive difficulties in daily time management. The low time-processing ability found in children with SB is likely to be an important contributing factor to low autonomy and independence.

Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden

DEFF Research Database (Denmark)

Bodin, Charlotte; Rasmussen, Mikkel Mylius; Tabor, Ann

2018-01-01

Objectives: The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods: Data were retrieved from the Danish Fetal Medicine Da...

Adolescent predictors of emerging adulthood milestones in youth with spina bifida.

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Zukerman, Jill M; Devine, Katie A; Holmbeck, Grayson N

2011-04-01

To examine the predictive utility of demographic (illness status and SES), individual (neurocognitive functioning and intrinsic motivation), and family-based (parental intrusiveness) factors during adolescence on the achievement of emerging adulthood milestones in youth with and without spina bifida (SB). Questionnaire and observational data were collected from 14/15-year-old adolescents with SB, typically developing peers, mothers, and teachers. Emerging adulthood milestones (i.e., leaving home, attending college, employment, romantic relationship experience, and number of friendships) were assessed at ages 18/19 years in the full sample and subset of youth who graduated from high school. Typically, developing youth were more likely to achieve milestones compared to youth with SB in the full sample but not when only high school graduates were compared. Executive function, SES, intrinsic motivation, and parental intrusiveness emerged as significant predictors for particular milestones. Interventions targeting executive function, intrinsic motivation, and parenting behavior may facilitate achievement of emerging adulthood milestones.

Serial casting versus stretching technique to treat knee flexion contracture in children with spina bifida: a comparative study.

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Al-Oraibi, S; Tariah, Hashem Abu; Alanazi, Abdullah

2013-01-01

Severe knee contractures that develop soon after muscle imbalance may not improve with stretching exercises and splinting. An alternative treatment is serial casting, which has been used to promote increased range of motion. The purpose of this study was to compare the effectiveness of using serial casting and passive stretching approaches to treat knee flexion contracture in children with spina bifida. In a pre/post randomized controlled study, ten participants were included in the serial casting group, while eight participants were included in the passive stretching intervention group. The degree of knee extension was measured at baseline, immediately after intervention, and at a one-year follow-up using a standard goniometer. Both groups showed significant improvements in the degree of flexion contracture at the post-treatment evaluation and the follow-up evaluation. The serial casting group showed significant improvements in knee flexion contracture at the post-treatment evaluation, t (9)=13.4, p casting group compared with passive stretching group in relation to the degree of flexion contracture were found at the immediate post-treatment evaluation, F(1, 15)=246, p=0.0001, and the one-year follow-up evaluation, F (1, 15)=51.5, p=0.0001. The outcomes of this study provide the first evidence that serial casting may be a useful intervention in treating knee flexion contracture in children with spina bifida. However, further investigations into serial casting, as well as investigations into the use of serial casting with other interventions, are warranted.

Osteoporosis in paediatric patients with spina bifida.

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Marreiros, Humberto; Marreiros, Humberto Filipe; Loff, Clara; Calado, Eulalia

2012-01-01

The prevalence and morbidity associated with osteoporosis and fractures in patients with spina bifida (SB) highlight the importance of osteoporosis prevention and treatment in early childhood; however, the issue has received little attention. The method for the selection of appropriate patients for drug treatment has not been clarified. To review the literature concerning fracture risks and low bone density in paediatric patients with SB. We looked for studies describing state-of-the-art treatments and for prevention of secondary osteoporosis. Articles were identified through a search in the electronic database (PUBMED) supplemented with reviews of the reference lists of selected papers. The main outcome measures were incidence of fractures and risk factors for fracture, an association between bone mineral density (BMD) and occurrence of fracture, risk factors of low BMD, and effects of pharmacological and non-pharmacological treatments on BMD and on the incidence of fractures. We considered as a secondary outcome the occurrence of fractures in relation to the mechanism of injury. Results indicated that patients with SB are at increased risk for fractures and low BMD. Risk factors that may predispose patients to fractures include higher levels of neurological involvement, non-ambulatory status, physical inactivity, hypercalciuria, higher body fat levels, contractures, and a previous spontaneous fracture. Limitations were observed in the number and quality of studies concerning osteoporosis prevention and treatment in paediatric patients with SB. The safety and efficiency of drugs to treat osteoporosis in adults have not been evaluated satisfactorily in children with SB.

[Association of intercalary cervical bone and occult lumbar and sacral spina bifida. Case report].

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Ruiz-Osuna, César; Avila-Zamorano, Myrna Lizeth; Suárez-Ahedo, Carlos; Trueba-Davalillo, Cesáreo

2009-01-01

The defects of the spinal cord enclose diverse malformations that go from spina bifida to myelomeningocele but there is also a rare variant that is the intercalary bone. The incidence of this phenomenon may vary in 1 to 1,000 to 5,000. At our knowledge, there are no cases reported where it can be an association of intercalary bone and a bifid spine in different levels. In this article we report the case of one patient that coincide with an intercalary cervical bone, bifid spine in lumbar column and bifid spine in sacral column. The objective of this article is also to comment how the clinical symptoms are unspecific, the chronic pain is the frequent symptom, and how the physiotherapy and anti-inflammatory drugs can provide excellent results in a short and medium term.

Attention in spina bifida myelomeningocele: Relations with brain volume and integrity

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Paulina A. Kulesz

2015-01-01

Full Text Available This study investigated the relations of tectal volume and superior parietal cortex, as well as alterations in tectocortical white matter connectivity, with the orienting and executive control attention networks in individuals with spina bifida myelomeningocele (SBM. Probabilistic diffusion tractography and quantification of tectal and superior parietal cortical volume were performed on 74 individuals aged 8–29 with SBM and a history of hydrocephalus. Behavioral assessments measured posterior (covert orienting and anterior (conflict resolution, attentional control attention network functions. Reduced tectal volume was associated with slower covert orienting; reduced superior parietal cortical volume was associated with slower conflict resolution; and increased axial diffusivity and radial diffusivity along both frontal and parietal tectocortical pathways were associated with reduced attentional control. Results suggest that components of both the orienting and executive control attention networks are impaired in SBM. Neuroanatomical disruption to the orienting network appears more robust and a direct consequence of characteristic midbrain dysmorphology; whereas, executive control difficulties may emerge from parietal cortical anomalies and reduced frontal and parietal cortical–subcortical white matter pathways susceptible to the pathophysiological effects of congenital hydrocephalus.

Sonographic detection of open spina bifida in the first trimester: review of the literature.

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Meller, César; Aiello, Horacio; Otaño, Lucas

2017-07-01

In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities. Many papers were published focusing on early diagnosis of myelomeningocele (MMC), and the objective of this review is to summarize the different techniques described regarding prenatal diagnosis of OSB in the first trimester of pregnancy.

[The diagnostic process in spina bifida: parents perception and viewpoint of clinical specialists].

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Herb, G; Streeck, S

1995-01-01

This is a study of the subjective experience of communicative understanding between parents of spina bifida children and medical personnel. Research methods include content analysis of data from semi-structured interviews, a questionnaire to explore the quality of life as well as conversation analytic reconstructions of the "real" communication processes during outpatient clinic which were tape-recorded. Results of the interviews with parents and personnel demonstrate the great relevance of the quality of the relationship in the providing of clinical care; equally important is that the relationship between parents and clinic staff is shaped in a reciprocal fashion. Discrepancies in the perceptions of parents and personnel indicate individual reality constructions. It is desirable that parents and personnel construct a shared reality during their interaction. With respect to this end, the emotional resources of personnel should be regarded as competences and drawn upon more systematically. The parents' role as "experts" should be validated and their active participation in the construction of the communicative situation - which is normally determined by the institution - should be encouraged.

Sexual identity and orientation in adult men and women with spina bifida.

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Szymanski, Konrad M; Hensel, Devon J; Wiener, John S; Whittam, Benjamin; Cain, Mark P; Misseri, Rosalia

2017-12-11

Sexuality has received little attention in spina bifida (SB) care. The aim of this study was to assess sexual identity and orientation in adults with SB. An international online survey to adults with SB was administered over 10-months (recruitment: SB clinics, SB organizations via social media). Collected data included demographics, sexual identity and orientation. Non-parametric tests were used for analysis. Median age of 77 men and 119 women was 35 years old (52.0% shunted, 48.5% community ambulators, 42.3% outside United States). Most commonly, men identified as male (96.1%), while 1.3% each described themselves as female, transgender and other. All women reporting sexual identity identified as female (99.2%), 0.8% not providing an answer. Most men reported heterosexual orientation (89.6%), followed by gay (7.8%) and bisexual (2.6%). Most women reported heterosexual orientation (84.9%), followed by bisexual (10.4%), gay/lesbian (2.5%), asexual (0.8%) and other (1.7%). As in the general population, sexual identity typically coincides with biological gender. Sexual orientation of adults with SB mirrors the general population. Due to self-selection, these findings likely do not reflect exact prevalence in the SB population.

Evaluation of sexual function in young men with spina bifida and myelomeningocele using the International Index of Erectile Function.

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Gamé, Xavier; Moscovici, Jacques; Gamé, Laurence; Sarramon, Jean-Pierre; Rischmann, Pascal; Malavaud, Bernard

2006-03-01

To assess sexual function in young men with spina bifida and myelomeningocele. Between November 2003 and February 2004, a cross-sectional study was performed in 55 men older than 18 years of age who had been regularly followed up for myelomeningocele since childhood, between 1961 and 1985, in the Pediatric Internal Surgery Department. The International Index of Erectile Function (IIEF) questionnaire was mailed to each man. The response rate was 72.7%. Of the 40 men who replied, 16 (40%) had had sexual intercourse at least once during the previous month. These were the older men (age 31.9 +/- 5.7 years versus 27.7 +/- 5.5 years, P = 0.027). The IIEF scores for the whole group were erectile function 11.61 +/- 9.44, orgasmic function 3.53 +/- 3.86, sexual desire 6.94 +/- 2.4, intercourse satisfaction 3.7 +/- 4.81, and overall satisfaction 4.7 +/- 3.34. According to the classification of Cappelleri, of the 16 men who had had sexual intercourse during the previous month, 4 had no erectile dysfunction, 3 had mild, 4 mild to moderate, and 5 severe dysfunction. Erectile function was statistically related to the ability to maintain erections (mean IIEF score 4 and 5 for men with no erectile dysfunction versus a mean IIEF score of 4 and 5 for men with erectile dysfunction: 4.75 +/- 0.5 versus 2.00 +/- 1.32, P = 0.011 for IIEF score of 4 and 4.50 +/- 1.5 versus 3 +/- 2, P = 0.040 for IIEF score of 5). Young adult men with spina bifida and myelomeningocele begin sexual activity late. Moreover, 75% have erectile dysfunction that is related to difficulty in maintaining erections.

Percutaneous fetoscopic closure of large open spina bifida using a bilaminar skin substitute.

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Lapa Pedreira, Denise A; Acacio, Gregório L; Gonçalves, Rodrigo T; Sá, Renato Augusto M; Brandt, Reynaldo A; Chmait, Ramen; Kontopoulos, Eftichia; Quintero, Ruben A

2018-01-04

We have previously described our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. We hereby describe a modification of our standard technique using a bilaminar skin substitute to allow closure of such large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large spina bifida defects. Surgeries were performed between 24.0 and 28.9 gestational weeks under general anesthesia, using an entirely percutaneous fetoscopic approach with partial CO2 insufflation of the uterine cavity, as previously described. If there was enough skin to be sutured in the midline, only a biocellulose patch was placed over the placode. In cases where skin approximation was not possible, a bilaminar skin substitute (two layers: one silicone and one dermal matrix) was placed over the biocellulose. The surgical site was assessed at birth, and long-term follow-up was performed. Forty-seven consecutive fetuses underwent percutaneous fetoscopic OSB repair. Premature preterm rupture of membranes (PPROM) occurred in 38 (84%), and the mean gestational age at delivery was 32,8 + 2.5 weeks. A bilaminar skin substitute was required in 13 (29%), of which 5 was associated with myeloschisis. In all cases the skin substitute was found at the surgical site, at birth. In 3 (15%) of these cases, postnatal additional repair was needed. In the other 10 cases, the silicone layer detached spontaneously from the dermal matrix (average 25 days after birth), and the lesion healed by secondary-intention. Operating time was significantly longer in cases requiring the bilaminar skin substitute (additional 42 minutes). The subgroup with bilaminar skin substitute had similar PPROM rate and delivery gestational age compared to the one patch group. Complete reversal of

The effects of orthoses, footwear, and walking aids on the walking ability of children and adolescents with spina bifida: A systematic review using International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as a reference framework.

Science.gov (United States)

Ivanyi, Barbara; Schoenmakers, Marja; van Veen, Natasja; Maathuis, Karel; Nollet, Frans; Nederhand, Marc

2015-12-01

To date no review has been published that analyzes the efficacy of assistive devices on the walking ability of ambulant children and adolescents with spina bifida and, differentiates between the effects of treatment on gait parameters, walking capacity, and walking performance. To review the literature for evidence of the efficacy of orthotic management, footwear, and walking aids on gait and walking outcomes in ambulant children and adolescents with spina bifida. Systematic literature review. A systematic literature search was performed to identify studies that evaluated the effect of any type of lower limb orthoses, orthopedic footwear, or walking aids in ambulant children (≤18 years old) with spina bifida. Outcome measures and treatment results for gait parameters, walking capacity, and walking performance were identified using International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as the reference framework. Six case-crossover studies met the criteria and were included in this systematic review. Four studies provided indications of the efficacy of the ankle-foot orthosis in improving a number of kinematic and kinetic properties of gait, stride characteristics, and the oxygen cost of walking. Two studies indicated that walking with forearm crutches may have a favorable effect on gait. The evidence level of these studies was low, and none of the studies assessed the efficacy of the intervention on walking capacity and walking performance. Some data support the efficacy of using ankle-foot orthosis and crutches for gait and walking outcomes at the body functions and structures level of the ICF-CY. Potential benefits at the activities and participation level have not been investigated. This is the first evidence-based systematic review of the efficacy of assistive devices for gait and walking outcomes for children with spina bifida. The ICF-CY is used as a reference framework to differentiate the effects of treatment

Neuromuscular training based on whole body vibration in children with spina bifida: a retrospective analysis of a new physiotherapy treatment program.

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Stark, C; Hoyer-Kuhn, H-K; Semler, O; Hoebing, L; Duran, I; Cremer, R; Schoenau, E

2015-02-01

Spina bifida is the most common congenital cause of spinal cord lesions resulting in paralysis and secondary conditions like osteoporosis due to immobilization. Physiotherapy is performed for optimizing muscle function and prevention of secondary conditions. Therefore, training of the musculoskeletal system is one of the major aims in the rehabilitation of children with spinal cord lesions. The neuromuscular physiotherapy treatment program Auf die Beine combines 6 months of home-based whole body vibration (WBV) with interval blocks at the rehabilitation center: 13 days of intensive therapy at the beginning and 6 days after 3 months. Measurements are taken at the beginning (M0), after 6 months of training (M6), and after a 6-month follow-up period (M12). Gait parameters are assessed by ground reaction force and motor function by the Gross Motor Function Measurement (GMFM-66). Sixty children (mean age 8.71 ± 4.7 years) who participated in the program until February 2014 were retrospectively analyzed. Walking velocity improved significantly by 0.11 m/s (p = 0.0026) and mobility (GMFM-66) by 2.54 points (p = 0.001) after the training. All changes at follow-up were not significant, but significant changes were observed after the training period. Decreased contractures were observed with increased muscle function. Significant improvements in motor function were observed after the active training period of the new neuromuscular training concept. This first analysis of the new neuromuscular rehabilitation concept Auf die Beine showed encouraging results for a safe and efficient physiotherapy treatment program which increases motor function in children with spina bifida.

Attention lapses in children with spina bifida and hydrocephalus and children with attention-deficit/hyperactivity disorder.

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De la Torre, Gabriel G; Martin, Alba; Cervantes, Elizabeth; Guil, Rocio; Mestre, Jose M

2017-08-01

Attentional lapses are usually defined as temporary and often brief shifts of attention away from some primary task to unrelated internal information processing. This study addressed the incidence of attention lapses and differences in attentional functioning in 30 children with attention-deficit/hyperactivity disorder (ADHD), 26 healthy children, and 29 children with spina bifida myelomeningocele and hydrocephalus (SBH). Assessments were conducted using computerized tonic and phasic attention tests, the Symbol Digit Modalities Test (SDMT), and the Trail Making Test Form B (TMT-B). The group with SBH differed from normal controls on cognitive measures of attention and executive functions. The ADHD group obtained lower scores than the SBH group and healthy children. ANOVA results showed that there was an effect of shunt revisions and shunt-related infections on neuropsychological performance. Lapses of attention together with reaction time may thus represent important factors for the understanding of cognitive deficits in SBH.

Executive functions in adolescents with spina bifida: relations with autonomy development and parental intrusiveness.

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Tuminello, Elizabeth R; Holmbeck, Grayson N; Olson, Rick

2012-01-01

The current study was part of a larger longitudinal investigation and examined the relation of parent-report and performance measures of executive functioning (EF) with measures of behavioral and emotional autonomy and parental intrusiveness in adolescents with and without spina bifida (SB; n=65 in a comparison sample and 61 in an SB sample; M age=14.55, SD=0.63). For both groups, higher levels of parent-reported EF problems predicted higher levels of observed child dependency and lower levels of teacher-reported intrinsic motivation. Higher scores on performance EF measures predicted lower levels of observed child dependency and observed maternal intrusiveness for both groups. In adolescents with SB only, higher performance EF scores predicted higher intrinsic motivation and emotional autonomy from both mother and father and predicted lower levels of observed paternal intrusiveness. While causal conclusions cannot be drawn, EFs appear to be closely related to autonomy development and parental intrusiveness, particularly for adolescents with SB. These results suggest that the inclusion of EF training in interventions targeting adolescents with SB may be beneficial for autonomy development.

Anatomical and diffusion MRI of deep gray matter in pediatric spina bifida

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Ashley L. Ware

2014-01-01

Full Text Available Individuals with spina bifida myelomeningocele (SBM exhibit brain abnormalities in cortical thickness, white matter integrity, and cerebellar structure. Little is known about deep gray matter macro- and microstructure in this population. The current study utilized volumetric and diffusion-weighted MRI techniques to examine gray matter volume and microstructure in several subcortical structures: basal ganglia nuclei, thalamus, hippocampus, and amygdala. Sixty-six children and adolescents (ages 8–18; M = 12.0, SD = 2.73 with SBM and typically developing (TD controls underwent T1- and diffusion-weighted neuroimaging. Microstructural results indicated that hippocampal volume was disproportionately reduced, whereas the putamen volume was enlarged in the group with SBM. Microstructural analyses indicated increased mean diffusivity (MD and fractional anisotropy (FA in the gray matter of most examined structures (i.e., thalamus, caudate, hippocampus, with the putamen exhibiting a unique pattern of decreased MD and increased FA. These results provide further support that SBM differentially disrupts brain regions whereby some structures are volumetrically normal whereas others are reduced or enlarged. In the hippocampus, volumetric reduction coupled with increased MD may imply reduced cellular density and aberrant organization. Alternatively, the enlarged volume and significantly reduced MD in the putamen suggest increased density.

A girl with spina bifida, an extra leg, and ectopic intestinal loops--a "foetus in foetu" or a whim of the neural crest?

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Lende, G; Wendemu, W; Mørk, S; Wester, K

2007-10-01

This article describes a girl with an extra leg attached to her lower back, combined with a spina bifida and a myelomeningocele. Despite lacking sensory or motor functions, the leg grew proportionately with the rest of the body. The bony structures were almost normal. A cross section showed fat tissue with some centrally situated blood vessels, nerve bundles, and muscular fragments. Proximally, an isolated colon loop was found. The extra leg and intestine respected the dorsal fascia, without connection with the peritoneal or retroperitoneal compartments. The finding is discussed with reference to existing hypotheses for limb formation.

The effects of orthoses, footwear, and walking aids on the walking ability of children and adolescents with spina bifida : A systematic review using International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as a reference framework

NARCIS (Netherlands)

Ivanyi, B; Schoenmakers, MA; Veen, N.; Maathuis, Karel; Nollet, Frans; Nederhand, Marc

2015-01-01

BACKGROUND: To date no review has been published that analyzes the efficacy of assistive devices on the walking ability of ambulant children and adolescents with spina bifida and, differentiates between the effects of treatment on gait parameters, walking capacity, and walking performance.

Social Skills in Youth With Spina Bifida: A Longitudinal Multimethod Investigation Comparing Biopsychosocial Predictors.

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Holbein, Christina E; Peugh, James L; Holmbeck, Grayson N

2017-11-01

To examine the relative contributions of neuropsychological (attention and executive function), family (cohesion and conflict), and health (body mass index, lesion level, gross motor function) domains on social skills over time in youth with spina bifida (SB). In all, 140 youth with SB (T1 mean age = 11.43 years) and their families participated in the study at baseline with an additional visit 2 years later. Study variables were assessed with multiple methods (questionnaire, medical chart review, observation, neuropsychological tests) and reporters (parents, teachers). Multivariate hierarchical linear regressions determined the predictive power of the three domains for T2 social skills. Neuropsychological variables accounted for significant variance in mother- and father-reported T2 social skills. Neither family nor health variables contributed significantly to later social skills when other domains were included in the model. Neuropsychological factors are particularly important for social skill development in youth with SB. Findings can inform screening and intervention practices. © The Author 2017. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

The effects of orthoses, footwear, and walking aids on the walking ability of children and adolescents with spina bifida: A systematic review using International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as a reference framework

NARCIS (Netherlands)

Ivanyi, Barbara; Schoenmakers, Marja; van Veen, Natasja; Maathuis, Karel; Nollet, Frans; Nederhand, Marc

2015-01-01

To date no review has been published that analyzes the efficacy of assistive devices on the walking ability of ambulant children and adolescents with spina bifida and, differentiates between the effects of treatment on gait parameters, walking capacity, and walking performance. To review the

Variation in definitions of urinary tract infections in spina bifida patients: a systematic review.

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Madden-Fuentes, Ramiro Jose; McNamara, Erin Rebekah; Lloyd, Jessica Catherine; Wiener, John Samuel; Routh, Jonathan Charles; Seed, Patrick Casey; Ross, Sherry Sedberry

2013-07-01

Urinary tract infections (UTIs) are a common source of morbidity among children with spina bifida (SB) and are a frequently reported outcome in studies of this patient population. However, the criteria for a diagnosis of UTI are often not stated. We evaluated the literature on SB patients for the criteria that authors use to define parameters in reporting UTI outcomes. Embase and Medline were queried with the medical subject heading terms “spinal dysraphism,” “myelomeningocele,” “infection,”and “urinary tract infection.” A second search with the exploded term“spina bifida” and “urinary tract infection” was performed. Original research studies reporting a UTI outcome in SB patients were included and evaluated by 2 independent reviewers for the presence of a UTI definition and diagnostic criteria. We identified 872 publications, of which 124 met inclusion criteria. Forty-five of 124 (36.3%) studies reporting UTI as an outcome provided a definition of UTI. Of 124 studies, 28 (22.6%) were published in pediatric journals and 69 (55.6%) in urology journals. A definition of UTI was provided in 11 (39.3%) and 26 (37.7%) studies, respectively. “Fever,culture, and symptoms” defined a UTI in 17 of 45 studies. Journal category and presence of UTI definitions did not correlate (P = .71). Explicit definitions for UTI are heterogeneous and infrequently applied in studies of SB patients, limiting study reliability and estimates of true UTI rates in this population. Future studies will benefit from the development and application of a standard definition for UTI in this population.

Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects.

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Sudiwala, Sonia; De Castro, Sandra C P; Leung, Kit-Yi; Brosnan, John T; Brosnan, Margaret E; Mills, Kevin; Copp, Andrew J; Greene, Nicholas D E

2016-07-01

The curly tail mouse provides a model for neural tube defects (spina bifida and exencephaly) that are resistant to prevention by folic acid. The major ct gene, responsible for spina bifida, corresponds to a hypomorphic allele of grainyhead-like 3 (Grhl3) but the frequency of NTDs is strongly influenced by modifiers in the genetic background. Moreover, exencephaly in the curly tail strain is not prevented by reinstatement of Grhl3 expression. In the current study we found that expression of Mthfd1L, encoding a key component of mitochondrial folate one-carbon metabolism (FOCM), is significantly reduced in ct/ct embryos compared to a partially congenic wild-type strain. This expression change is not attributable to regulation by Grhl3 or the genetic background at the Mthfd1L locus. Mitochondrial FOCM provides one-carbon units as formate for FOCM reactions in the cytosol. We found that maternal supplementation with formate prevented NTDs in curly tail embryos and also resulted in increased litter size. Analysis of the folate profile of neurulation-stage embryos showed that formate supplementation resulted in an increased proportion of formyl-THF and THF but a reduction in proportion of 5-methyl THF. In contrast, THF decreased and 5-methyl THF was relatively more abundant in the liver of supplemented dams than in controls. In embryos cultured through the period of spinal neurulation, incorporation of labelled thymidine and adenine into genomic DNA was suppressed by supplemental formate, suggesting that de novo folate-dependent biosynthesis of nucleotides (thymidylate and purines) was enhanced. We hypothesise that reduced Mthfd1L expression may contribute to susceptibility to NTDs in the curly tail strain and that formate acts as a one-carbon donor to prevent NTDs. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Bluish Discolouration of Urine Drainage Tube and Bag in a Female Patient with Spina Bifida, Paraplegia, and Suprapubic Cystostomy

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Subramanian Vaidyanathan

2007-01-01

Full Text Available We present a female patient with spina bifida, paraplegia, suprapubic cystostomy, and chronic constipation, who became anxious when she noticed a bluish discolouration of her urine drainage system. Urine microbiology revealed growth of Providencia stuartii and Staphylococcus aureus. There were no systemic features of infection and, therefore, antibiotics were not prescribed for asymptomatic bacteriuria. This patient was advised to change the urine bag every day, and was prescribed senna to facilitate bowel evacuation. She was reassured that bluish discolouration of the urine drainage tube and bag was a transient, benign phenomenon and not indicative of any underlying pathology. Over the next 7 days, the bluish discolouration gradually faded away. Clinical characteristics of patients who are likely to develop this phenomenon and the underlying biochemical mechanism for bluish discolouration of the urine drainage system are discussed in brief.

Virtual socialization in adults with spina bifida.

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Chan, Wendy M; Dicianno, Brad E

2011-03-01

To use spina bifida (SB) as a model of chronic physical disability to study the associations of virtual socialization, friendships, and quality of life (QOL) in adults. Cross-sectional survey. Subjects were recruited from residential living facilities, outpatient clinics, and the University of Pittsburgh Medical Center (UPMC) research registry. Inclusion criteria were age between 18 and 80 years and clinical diagnoses of SB cystica (myelomeningocele) and hydrocephalus. The exclusion criterion was the diagnosis of SB occulta. Sixty-three eligible adults were enrolled, and all completed the study. The survey via questionnaire was performed in person or over the telephone. Data collected included the World Health Organization's Medical Outcomes Study 26-item Short Form, Economic Self-Sufficiency from the Craig Handicap Assessment and Reporting Technique Short Form, virtual socializing habits, and number of friends. Three linear regression models were performed, each with a unique dependent variable: number of friends, psychological QOL, or social QOL. The following independent variables were included in all models: age, gender, ethnicity, economic self-sufficiency, marital status, education level, lesion level, health status, user group, collection method, and time spent virtually socializing. In addition, each regression model included the dependent variables from the other 2 models in its independent variables. Increased degree of virtual socialization (VS) was associated with a greater number of friends (P = .003, r = .684). Mean (standard deviation) numbers of friends by VS groups were the following: users, n = 4.9 ± 2.7; semi-users, n = 3.8 ± 2.7; and nonusers, n = 2.1 ± 2.3, which represent a 2.3 times greater number of friends between the users and nonusers. The effect of virtual socialization on QOL was also positive, however, not statistically significant. People with chronic physical disabilities, such as SB, are at high risk for peer rejection and long

Mental health and parenting characteristics of caregivers of children with spina bifida.

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Malm-Buatsi, Elizabeth; Aston, Christopher E; Ryan, Jamie; Tao, Yeun; Palmer, Blake W; Kropp, Bradley P; Klein, Jake; Wisniewski, Amy B; Frimberger, Dominic

2015-04-01

Within the chronic medical illness literature, associations exist between caring for an affected child and parent mental health. The few studies examining both mothers and fathers provide mixed results. The purpose of this study is to examine associations between caregiver anxiety, depression, and parenting variables in caregivers of youth with SB as these relate to marital status, age, education, household income, work status, and child's severity of SB. The aim of this study is to examine associations between anxiety, depression, and parenting variables in caregivers of youth with spina bifida and how they relate to demographic and disease variables. Exploratory analyses examined the relationship between participation in support activities and depressive and anxious symptomatology and parenting characteristics. Eighty-four primary caregivers (49 mothers) of 51 youth with spina bifida completed measures of depressive and anxious symptomology, parenting stress, parent overprotection, and perceived child vulnerability. There were differences between mothers and fathers on several parenting characteristics; however, these were related more to marital status and employment than to gender of the caretaker per se. In the 33 married/remarried couples for whom both spouses participated, stress for the mothers was correlated with stress for the fathers. This correlation was strongest in the 12 married couples in which the mother works. Higher perceived vulnerability scores were reported in parents of SB patients in the younger age group, especially preschoolers (0-4 years). Parents of children with shunts reported more anxiety, depression and perceived child vulnerability. Both male and female caregivers of younger children reported significantly higher protectiveness scores. Involvement in recreational activities with other families affected by SB was associated with more positive parenting characteristics for mothers. Stress and protectiveness were found to be positively

The relationship between intellectual skills and the computerised axial tomograms of children with spina bifida and hydrocephalus

International Nuclear Information System (INIS)

Lonton, A.P.

1979-01-01

Cranial CT-scans of 467 patients were graded in degrees of severity of hydrocephalus. The patients were aged from 2-22 years and had spina bifida and/or hydrocephalus or related disorders. Even large increases in the degree of hydrocephalus were found to have an insignificant effect upon verbal IQ, but there was a small but statistically significant effect upon performance scale IQ on the WISC. The abilities most affected were those involving the use of motor and perceptuo-motor skills. Assymmetrical or other abnormal scans were found to be associated with lower IQ. Children with valves were only found to be substantially inferior in skills to those without valves when their ventricles were either very large, or abnormally small. The highest proportion of children with valves was found in the group with the smallest ventricles, followed by the group with the largest ventricles. Very small ventricles are known to be associated with an increased rate of valve complications, and this paper shows that there are psychological disadvantages also. (orig.) [de

Oral health status of a sample of Venezuelan patients with spina bifida. A cross-sectional study

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Mariana Morales-Chávez

2016-09-01

Full Text Available Spina bifida (SB is a congenital malformation of the spinal cord associated with several vertebral abnormalities caused by incomplete neural tube closure. The aim of this study is to report on the oral health status of a sample of Venezuelan patients with SB. Materials and Methods: An observational cross-sectional study was performed in 30 patients with SB to determine their oral health status and other variables of interest. Results: A 46.7% of the patients had a history of caries: 22% in the 1-4 year group, 71.4% in the 5-7 year group, and 100% in the 8-16 year group. The dmft and DMFT indices were 1.55 and 3.50, respectively. A 46.7% of the patients had gingivitis, 30% had dental calculus, with an OHI-S of 2. The 83% had Angle Class II and 17%, Angle Class I. A 40% had parafunctional habits such as digital suction, use of pacifiers and onicophagia. The 70% had deep palate. Conclusion: Patients with SB have specific oral characteristics and risk factors that must be taken into account in dental treatments to provide adequate care and improve their quality of life

Total prevention of folic acid-preventable spina bifida and anencephaly would reduce child mortality in India: Implications in achieving Target 3.2 of the Sustainable Development Goals.

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Kancherla, Vijaya; Oakley, Godfrey P

2018-03-15

The potential to reduce child mortality by preventing folic acid-preventable spina bifida and anencephaly (FAP SBA) is inadequately appreciated. To quantify possible reduction in FAP SBA-associated child mortality in low- and middle-income countries, we conducted an analysis to demonstrate in India, a country with more than 25 million births and 1.2 million under-five deaths each year, the decrease in neonatal, infant, and under-five mortality that would occur through total prevention of FAP SBA. We estimated the percent reductions in neonatal, infant, and under-five mortality that would have occurred in India in 2015 had all of FAP SBA been prevented. We also estimated the contributions of these reductions toward India's Sustainable Development Goals on child mortality indicators. We considered the overall prevalence of spina bifida and anencephaly in India as 5 per 1,000 live births, of which 90% were preventable with effective folic acid intervention. In the year 2015, folic acid interventions would have prevented about 116,070 cases of FAP SBA and 101,565 under-five deaths associated with FAP SBA. Prevention of FAP SBA would have reduced annually, neonatal, infant, and under-five mortality by 10.2%, 8.9%, and 8.3%, respectively. These reductions would have contributed 18.5% and 17.2% to the reductions in neonatal and under-five mortality, respectively, needed by India to achieve its 2030 Sustainable Developmental Goal Target 3.2 addressing preventable child mortality. Total prevention of FAP SBA clearly has a significant potential for immediate reductions in neonatal, infant, and under-five mortality in India, and similarly other countries. © 2017 Wiley Periodicals, Inc.

Learning Among Children with Spina Bifida

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SBA National Resource Center: 800-621-3141 Learning Among Children with Spina Bifida Overview Parents, teachers and health care professionals have observed that children with Spina Bilda have problems with motor ...

Large subcapsular hematoma following ureteroscopic laser lithotripsy of renal calculi in a spina bifida patient: lessons we learn

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Vaidyanathan S

2016-08-01

Full Text Available Subramanian Vaidyanathan,1 Azi Samsudin,2 Gurpreet Singh,3 Peter L Hughes,4 Bakul M Soni,1 Fahed Selmi1 1Regional Spinal Injuries Center, Southport and Formby District General Hospital, Southport, UK; 2Department of Urology, Whiston Hospital, Prescot, UK; 3Department of Urology, 4Department of Radiology, Southport and Formby District General Hospital, Southport, UK Introduction: Paraplegic patients are at greater risk of developing complications following ureteroscopic lithotripsy because of urine infection associated with neuropathic bladder, difficulties in access due to altered anatomy of urinary bladder and urethra, spinal curvature, spasticity, and contractures. We report the occurrence of large subcapsular hematoma following ureteroscopy and discuss lessons we learn from this case.Case report: A 48-year-old male patient with spina bifida underwent ureteroscopy with laser lithotripsy and ureteric stenting for left ureteric stone and staghorn calculus with hydronephrosis; laser lithotripsy was repeated after 3 months; both procedures were performed by a senior urologist and did not result in any complications. Ureteroscopic laser lithotripsy was performed 5 months later by a urological trainee; it was difficult to negotiate the scope as vision became poor because of bleeding (as a result of the procedure. Postoperatively, hematuria persisted; temperature was 39°C. Cefuroxime was given intravenously followed by gentamicin for 5 days; hematuria subsided gradually; he was discharged home. Ten days later, this patient developed temperature, the urine culture grew Pseudomonas aeruginosa, and ciprofloxacin was given orally. Computed tomography (CT of the urinary tract, performed 4 weeks after ureteroscopy, revealed a 9×7 cm subcapsular collection on the left kidney compressing underlying parenchyma. Percutaneous drainage was not feasible because of severe curvature of spine. Isotope renogram revealed deterioration in left renal function from 30

Neuroimaging parameters in early open spina bifida detection. Further benefit in first trimester screening?

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Iliescu, D; Comănescu, A; Antsaklis, P; Tudorache, Stefania; Ghiluşi, Mirela; Comănescu, Violeta; Paulescu, Daniela; Ceauşu, Iuliana; Antsaklis, A; Novac, Liliana; Cernea, N

2011-01-01

Morphological investigation of the central nervous system (CNS) in fetuses with positive markers for open spina bifida (OSB) detection, visualized by ultrasound during the first trimester of pregnancy. Data from fetuses that underwent routine first trimester ultrasound scan in our center during September 2007-March 2011 and presented abnormal aspects of the fourth ventricle, also referred as intracranial translucency (IT), provided the morphological support to evaluate CNS features. A neuro-histological study of posterior cerebral fossa illustrated anatomical features of the structures involved in the sonographic first trimester detection of neural tube defects. Abnormal IT aspects were found in OSB cases examined in the first trimester, but also in other severe cerebral abnormalities. Brain stem antero-posterior diameter (BS) and brain stem to occipital bone (BSOB) ratio may be more specific for OSB detection. Correlations between histological aspects of posterior brain fossa and ultrasound standard assessment have been made; highlighting the anatomical features involved by the new techniques developed for OSB early detection. Preliminary results show that modern sonographic protocols are capable to detect abnormalities in the morphometry of the posterior brain. First trimester fourth ventricle abnormalities should be followed by careful CNS evaluation because are likely to appear in OSB affected fetuses, but also in other CNS severe anomalies; in such cases, normal BS and BSOB ratio may serve as indirect argument for spine integrity, if specificity is confirmed in large series of fetuses.

Urologic self-management through intermittent self-catheterization among individuals with spina bifida: A journey to self-efficacy and autonomy.

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Castillo, Jonathan; Ostermaier, Kathryn K; Fremion, Ellen; Collier, Talia; Zhu, Huirong; Huang, Gene O; Tu, Duong; Castillo, Heidi

2017-12-11

To describe the age of independence in intermittent self-catheterization (ISC) in a diverse patient population and identify factors associated with ISC in individuals with spina bifida. Two hundred patients with myelomeningocele or lipomyelomeningocele, who were ⩾ 3 years of age and utilized catheterization for bladder management were included. Data regarding diagnosis, functional level of lesion, race, ethnicity, presence of shunt, method of catheterization, self-management skills, fine motor skills, and cognitive abilities were collected. Fifty-five percent of individuals were able to perform ISC with a mean age of 9.45 years (SD = 2.97) and 22.7% used a surgically created channel. Higher level of lesion and female gender were associated with a lower rate of ISC. Intellectual disability was present in 15% of the individuals able to perform ISC and in 40% of those not able to perform ISC (p= 0.0005). Existent self-efficacy regarding activities of daily living (i.e. dressing, bathing, skin care) were associated with ISC (pleading to self-management are warranted.

Effects of reading goals on reading comprehension, reading rate, and allocation of working memory in children and adolescents with spina bifida meningomyelocele

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ENGLISH, LIANNE; BARNES, MARCIA A.; FLETCHER, JACK M.; DENNIS, MAUREEN; RAGHUBAR, KIMBERLY P.

2011-01-01

Spina bifida meningomyelocele (SBM) is a neurodevelopmental disorder associated with intact word decoding and deficient text and discourse comprehension. This study investigated the ability to adjust reading in accordance with specified reading goals in 79 children and adolescents with SBM (9–19 years of age) and 39 controls (8–17 years of age). Both groups demonstrated slower reading times and enhanced comprehension when reading to study or to come up with a title than when reading for specific information or for entertainment. For both groups, verbal working memory contributed to comprehension performance in those reading conditions hypothesized to require more cognitive effort. Despite their sensitivity to the goals of reading, the group with SBM answered fewer comprehension questions correctly across all reading goal conditions. The results are discussed in relation to the hypothesized cognitive underpinnings of comprehension deficits in SBM and to current models of text comprehension. PMID:20338082

Effects of reading goals on reading comprehension, reading rate, and allocation of working memory in children and adolescents with spina bifida meningomyelocele.

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English, Lianne; Barnes, Marcia A; Fletcher, Jack M; Dennis, Maureen; Raghubar, Kimberly P

2010-05-01

Spina bifida meningomyelocele (SBM) is a neurodevelopmental disorder associated with intact word decoding and deficient text and discourse comprehension. This study investigated the ability to adjust reading in accordance with specified reading goals in 79 children and adolescents with SBM (9-19 years of age) and 39 controls (8-17 years of age). Both groups demonstrated slower reading times and enhanced comprehension when reading to study or to come up with a title than when reading for specific information or for entertainment. For both groups, verbal working memory contributed to comprehension performance in those reading conditions hypothesized to require more cognitive effort. Despite their sensitivity to the goals of reading, the group with SBM answered fewer comprehension questions correctly across all reading goal conditions. The results are discussed in relation to the hypothesized cognitive underpinnings of comprehension deficits in SBM and to current models of text comprehension.

Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico.

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Gonzalez-Herrera, Lizbeth; Martín Cerda-Flores, Ricardo; Luna-Rivero, Marianne; Canto-Herrera, Jorge; Pinto-Escalante, Doris; Perez-Herrera, Norma; Quintanilla-Vega, Betzabet

2010-11-01

Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP-related effects. The frequency of PON1 haplotypes and polymorphisms (-108CT, L55M, and Q192R) were determined in this study. A case-control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time-PCR. Odds ratios and confidence interval 95% were estimated. Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy-Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p Mexico. © 2010 Wiley-Liss, Inc.

Inadvertent positioning of suprapubic catheter in urethra: a serious complication during change of suprapubic cystostomy in a spina bifida patient - a case report.

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Vaidyanathan, Subramanian; Hughes, Peter L; Soni, Bakul M; Oo, Tun; Singh, Gurpreet

2009-12-22

Spinal cord injury patients are at risk for developing unusual complications such as autonomic dysreflexia while changing suprapubic cystostomy. We report a male patient with spina bifida in whom the Foley catheter was placed in the urethra during change of suprapubic cystostomy with serious consequences. A male patient, born in 1972 with spina bifida and paraplaegia, underwent suprapubic cystostomy in 2003 because of increasing problems with urethral catheter. The patient would come to spinal unit for change of suprapubic catheter every four to six weeks. Two days after a routine catheter change in November 2009, this patient woke up in the morning and noticed that the suprapubic catheter had come out. He went straight to Accident and Emergency. The suprapubic catheter was changed by a health professional and this patient was sent home. But the suprapubic catheter did not drain urine. This patient developed increasing degree of pain and swelling in suprapubic region. He did not pass any urine per urethra. He felt sick and came to spinal unit five hours later. About twenty ml of contrast was injected through suprapubic catheter and X-rays were taken. The suprapubic catheter was patent; the catheter was not blocked. The Foley catheter could be seen going around in a circular manner through the urinary bladder into the urethra. The contrast did not opacify urinary bladder; but proximal urethra was seen. The tip of Foley catheter was lying in proximal urethra. The balloon of Foley catheter had been inflated in urethra. When the balloon of Foley catheter was deflated, this patient developed massive bleeding per urethra. A sterile 22 French Foley catheter was inserted through suprapubic track. The catheter drained bloody urine. He was admitted to spinal unit and received intravenous fluids and meropenem. Haematuria subsided after 48 hours. The patient was discharged home a week later in a stable condition. This case shows that serious complications can occur during

Discrepancies in mother and child perceptions of spina bifida medical responsibilities during the transition to adolescence: associations with family conflict and medical adherence.

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Psihogios, Alexandra M; Holmbeck, Grayson N

2013-09-01

This study investigated mother-child discrepancies over perceptions of who is responsible for spina bifida (SB) medical tasks in relation to family conflict and medical adherence. 140 youth with SB and their mothers completed questionnaires regarding who is responsible for specific SB medical tasks, family conflict, and medical adherence. An observational measure was also used to assess family conflict. Although children viewed themselves as more responsible for medical management than mothers did, mother-child discrepancies were not associated with family conflict or medical adherence. Interaction effects revealed that adherence was better when family conflict was low and when parents were responsible for medical tasks. Parental involvement in SB medical care is essential for optimal medical adherence during adolescence. The presence of family conflict also plays an influential role on SB medical adherence. Future research should evaluate the relations between discrepancies, family conflict, and medical adherence across time.

Predominant bacteria and patterns of antibiotic susceptibility in urinary tract infection in children with spina bifida.

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Ortiz, Tara K; Velazquez, Nermarie; Ding, Laura; Routh, Jonathan C; Wiener, John S; Seed, Patrick C; Ross, Sherry S

2018-04-20

Urinary tract infection is more common in children with spina bifida (SB) than neurologically intact children, and Escherichiacoli is the most common urinary pathogen in the general pediatric population. Less is known of the pathogens responsible for urinary tract infections (UTI) in the pediatric SB population or their evolving antimicrobial resistance patterns. The goal of this study is to determine the epidemiology and antimicrobial resistance patterns of SB-associated urinary pathogens. Between January 1996 and August 2013, 231 patients aged 1 month to 18 years were identified with a diagnosis of SB-NB and at least one symptomatic urinary tract infection (UTI) event (Table). Two-hundred and thirty-one normally voiding children with a single symptomatic UTI were age-matched based on age at diagnosis of UTI at a 1:1 ratio. Chi-square tests and Generalized Estimating Equation analysis, controlling for clinicopathological factors, were performed to compare rates of pathogen-associations with UTI between groups and likelihood of UTI with multi-drug resistant (MDR) organisms. Children in the SB-NB group had a higher rate of non-E. coli UTI compared with controls (64% vs. 41%, p Children with SB-NB are more likely to have non-E. coli UTI, UTIs with MDR organisms, and urosepsis than the general pediatric population. Published by Elsevier Ltd.

Observed Macro- and Micro-Level Parenting Behaviors During Preadolescent Family Interactions as Predictors of Adjustment in Emerging Adults With and Without Spina Bifida

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Amaro, Christina M.; Devine, Katie A.; Psihogios, Alexandra M.; Murphy, Lexa K.; Holmbeck, Grayson N.

2015-01-01

Objective To examine observed autonomy-promoting and -inhibiting parenting behaviors during preadolescence as predictors of adjustment outcomes in emerging adults with and without spina bifida (SB). Methods Demographic and videotaped interaction data were collected from families with 8/9-year-old children with SB (n = 68) and a matched group of typically developing youth (n = 68). Observed interaction data were coded with macro- and micro-coding schemes. Measures of emerging adulthood adjustment were collected 10 years later (ages 18/19 years; n = 50 and n = 60 for SB and comparison groups, respectively). Results Autonomy-promoting (behavioral control, autonomy-relatedness) and -inhibiting (psychological control) observed preadolescent parenting behaviors prospectively predicted emerging adulthood adjustment, particularly within educational, social, and emotional domains. Interestingly, high parent undermining of relatedness predicted better educational and social adjustment in the SB sample. Conclusions Parenting behaviors related to autonomy have long-term consequences for adjustment in emerging adults with and without SB. PMID:24864277

What Are Neural Tube Defects?

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... are born with spina bifida will have normal intelligence, but some will have learning or intellectual disabilities . 1 There are several common types of spina bifida: Spina bifida occulta (pronounced o- ...

Generation of Induced Pluripotent Stem Cells and Neural Stem/Progenitor Cells from Newborns with Spina Bifida Aperta.

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Bamba, Yohei; Nonaka, Masahiro; Sasaki, Natsu; Shofuda, Tomoko; Kanematsu, Daisuke; Suemizu, Hiroshi; Higuchi, Yuichiro; Pooh, Ritsuko K; Kanemura, Yonehiro; Okano, Hideyuki; Yamasaki, Mami

2017-12-01

We established induced pluripotent stem cells (iPSCs) and neural stem/progenitor cells (NSPCs) from three newborns with spina bifida aperta (SBa) using clinically practical methods. We aimed to develop stem cell lines derived from newborns with SBa for future therapeutic use. SBa is a common congenital spinal cord abnormality that causes defects in neurological and urological functions. Stem cell transplantation therapies are predicted to provide beneficial effects for patients with SBa. However, the availability of appropriate cell sources is inadequate for clinical use because of their limited accessibility and expandability, as well as ethical issues. Fibroblast cultures were established from small fragments of skin obtained from newborns with SBa during SBa repair surgery. The cultured cells were transfected with episomal plasmid vectors encoding reprogramming factors necessary for generating iPSCs. These cells were then differentiated into NSPCs by chemical compound treatment, and NSPCs were expanded using neurosphere technology. We successfully generated iPSC lines from the neonatal dermal fibroblasts of three newborns with SBa. We confirmed that these lines exhibited the characteristics of human pluripotent stem cells. We successfully generated NSPCs from all SBa newborn-derived iPSCs with a combination of neural induction and neurosphere technology. We successfully generated iPSCs and iPSC-NSPCs from surgical samples obtained from newborns with SBa with the goal of future clinical use in patients with SBa.

Amenorrhea after Endoscopic Third Ventriculostomy for a Failed Shunt in Spina Bifida: Case Report and Review of the Literature.

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Giordano, Flavio; Spacca, Barbara; Danti, Alfredo; Taverna, Maria; Losi, Stefania; Stagi, Stefano; Genitori, Lorenzo

2016-01-01

Secondary endoscopic third ventriculostomy (ETV) for the management of shunt failure may be efficacious, though it may be followed by more frequent complications (including endocrinological impairment, e.g., amenorrhea) compared to primary ETV. These complications are usually underreported in the literature. We report a case of secondary amenorrhea after ETV for the management of shunt failure in a young woman with hydrocephalus associated with myelomeningocele. A 25-year-old woman affected by hydrocephalus and myelomeningocele was admitted for secondary ETV for the management of shunt failure. The endoscopic procedure was preferred over shunt revision based on good results of secondary ETV, especially in patients with hydrocephalus associated with Chiari II malformation and spina bifida. Despite the surgery being uneventful, the patient had early (postoperative seizure) and late (secondary amenorrhea) complications. In the early postoperative period, she received external ventricular drainage followed by VP shunt reimplantation 2 weeks later. There was no neurological morbidity, but 1 month after the ETV she reported secondary amenorrhea and weight gain. Laboratory investigations ruled out hyperprolactinemia, which had been treated with cabergoline administration with no efficacy since the patient was still without regular periods 1 year later. ETV may be followed by endocrinological complications like amenorrhea that are rarely reported. © 2015 S. Karger AG, Basel.

Youth and young adults with spina bifida: their utilization of physician and hospital services.

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Young, Nancy L; Anselmo, Lianne A; Burke, Tricia A; McCormick, Anna; Mukherjee, Shubhra

2014-03-01

To describe current patterns of health care utilization of youth and young adults who have spina bifida (SB) and provide evidence to guide the development of health care for this growing population. We conducted a secondary analysis of health services utilization data from the Canadian Institute for Health Information to determine the rates and patterns of health care utilization, because comprehensive health care has been recognized as critical to positive health outcomes. Participants were identified from 6 publicly funded children's treatment centers. Health records from youth (n=164; age range, 13.0-17.9y) and adults (n=120; age range, 23.0-32.9y) with SB contributed to this study. Not applicable. The rates of outpatient physician visits and hospital admissions for the youth and adult groups were calculated. The proportion with a "medical home" was also calculated. The annual rates of outpatient physician visits per 1000 persons were 8031 for youth and 8524 for adults with SB. These rates were approximately 2.9 and 2.2 times higher, respectively, than for their age-matched peers. On average, 12% of youth and 24% of adults with SB had a medical home. The annual rates of hospital admissions per 1000 persons were 329 for youth and 285 for adults with SB. Rates of admissions were 19.4 and 12.4 times higher, respectively, for these groups than for the general population. It appears that persons with SB are accessing health services more often than their age-matched peers, and few have a medical home. We recommend that seamless medical care be provided to all adults with SB, coordinated by a primary care provider, to facilitate comprehensive care. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method.

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Urrutia, Julio; Cuellar, Jorge; Zamora, Tomas

2016-02-01

The prevalence of spondylolysis reported from radiograph-based studies has been questioned in recent computed tomography (CT)-based studies in adults; however, no new data are available in pediatric patients. Spina bifida occulta (SBO), which has been associated to spondylolysis, may be increasing its prevalence, according to recent studies in adults in the last decades, but without new data in pediatric patients. We aimed to determine the prevalence of spondylolysis and SBO in pediatric patients using abdomen and pelvis CT as a screening tool. We studied 228 patients 4-15 years old (107 males), who were evaluated with abdomen and pelvis CT scans for reasons not related to the spine. The entire lumbo-sacral spine was evaluated to detect the presence of spondylolysis and SBO. We compared the prevalence of spondylolysis in patients with and without SBO. A logistic regression analysis was performed to determine the effect of age and sex as independent predictors of spondylolysis and SBO. The prevalence of spondylolysis was 3.5 % (1.1-5.9 %); 2/8 patients presented with olisthesis, both with grade I slip. The prevalence of SBO was 41.2 % (34.8-59.2 %) (94 patients). Spondylolysis was not more frequent in patients with SBO than in patients without SBO. Male sex and decreasing age independently predicted the presence of SBO, but not of spondylolysis. We observed a 3.5 % prevalence of spondylolysis and a 41.2 % prevalence of SBO. SBO was significantly more frequent in males and younger patients.

Revision of Ascra with proposition of the bifida species group and description of two new species (Hemiptera: Pentatomidae: Edessinae).

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Santos, Bianca Tamires Silva Dos; Silva, Valeria Juliete Da; Fernandes, Jose Antonio Marin

2015-10-30

Edessa is comprised of six subgenera, Aceratodes, Ascra, Dorypleura, Edessa, Hypoxys and Pygoda. Ascra is here elevated to genus status based on characteristics of the male and female genitalia and the gibbous pronotum. This genus is comprised of eight species previously placed in Edessa-E. bifida, E. cordifera, E. petersii, E. abdita, E. championi, E. privata, E. conspersa and E. morbosa, as well as six new species. The genus Ascra was further divided into two groups of species bifida and privata separated by a different pattern of punctuation on body and pygophore. Here we present only the bifida species group formed by A. bifida, A. cordifera, A. petersii, A. abdita, and A. championi, as well as two new species-A. vluteum and A. flavoscutellata. Lectotypes of Aceratodes sigillatus, Edessa abdita, E. championi, E. cornuta, E. densata and E. petersii are designated. Aceratodes sigillatus, Edessa cornuta, E. densata, E. picata, and E. florida are considered junior synonyms of A. bifida. Interestingly, some species of this genus are considered edible in Mexico.

Memory and selective learning in children with spina bifida-myelomeningocele and shunted hydrocephalus: A preliminary study

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Vachha Behroze

2005-11-01

Full Text Available Abstract Background Selective learning is the ability to select items of relevance from among less important items. Limited evidence exists regarding the efficiency with which children with spina bifida-myelomeningocele and shunted hydrocephalus (SB/SH are able to learn information. This report describes initial data related to components of learning and metacognitive skills in children with SB/SH. Methods Twenty six children with SB/SH and 26 controls (age: 7 – 16 y with average intelligence, and monolingual English-speaking backgrounds participated in the study. Exclusion criteria for the SB/SH group were: prior history of shunt infection, history of seizure or shunt malfunction within the previous three months, prior diagnoses of attention disorders and/or clinical depression. Children were presented lists of words with equal exemplars each of two distinct semantic categories (e.g. fruits, animals, and told to make as high a score as possible by learning the words. The value of the words was designated by category membership (e.g. animals = low value; fruits = high value. The total number of words learned across three learning trials was used to determine memory span. Selective learning efficiency (SLE was computed as the efficiency with which items of greater value were selectively learned across three trials. Results Children with SB/SH did worse than controls on memory span (P Conclusion Success in school is often dependent on the ability to recall important facts selectively and ignore less important information. Children with SB/SH in our study had a poor memory span and were unable to monitor and report an efficient and workable metacognitive strategy required to remember a list of words. Preliminary findings may begin to explain our previous clinical and research findings wherein children with SB/SH often focus on extraneous details, but demonstrate difficulty remembering the main gist of a story/event.

Brain stem/brain stem occipital bone ratio and the four-line view in nuchal translucency images of fetuses with open spina bifida.

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Iuculano, Ambra; Zoppi, Maria Angelica; Piras, Alessandra; Arras, Maurizio; Monni, Giovanni

2014-09-10

Abstract Objective: Brain stem depth/brain stem occipital bone distance (BS/BSOB ratio) and the four-line view, in images obtained for nuchal translucency (NT) screening in fetuses with open spina bifida (OSB). Methods: Single center, retrospective study based on the assessment of NT screening images of fetuses with OSB. A ratio between the BS depth and the BSOB distance was calculated (BS/BSOB ratio) and the four-line view observed, and the sensitivity for a BS/BSOB ratio superior/equal to 1, and for the lack of detection of the four-line view were calculated. Results: There were 17 cases of prenatal diagnosis OSB. In six cases, the suspicion on OSB was raised during NT screening, in six cases, the diagnosis was made before 20 weeks and in five cases during anomaly scan. The BS/BSOB ratio was superior/equal to 1 in all 17 cases, and three lines, were visualized in 15/17 images of the OSB cases, being the sensitivity 100% (95% CI, 81 to 100%) and 88% (95% CI, 65 to 96%). Conclusion: Assessment of BS/BSOB ratio and four-line view in NT images is feasible detecting affected by OSB with high sensitivity. The presence of associated anomalies or of an enlarged NT enhances the early detection.

The use of mesenchymal cells in fetal and adult tissue repair

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Hosper, Nynke Akke

2013-01-01

Spina bifida is een aangeboren sluitingsdefect van de neurale buis en komt voor bij ongeveer 1 op de 2000 geboorten. Spina bifida kan leiden tot hydrocephalus, mentale retardatie, verlamming van het onderste gedeelte van het lichaam, urologische en orthopedische afwijkingen. De oorzaak van spina

A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks.

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Kose, Semir; Altunyurt, Sabahattin; Keskinoglu, Pembe

2018-01-01

The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at the first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt. © 2017 Japanese Teratology Society.

Marital quality of parents of children with spina bifida: a case-comparison study.

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Cappelli, M; McGarth, P J; Daniels, T; Manion, I; Schillinger, J

1994-10-01

The impact of childhood chronic illness on parents' marital quality has received limited attention. Most studies have relied solely on mothers' reports and have not examined differences between mothers and fathers. Using a case-control design, this study compared the marital quality within and between dyads of 46 couples with children matched on the age and children matched on the age and sex of the child. During a home visit, parents completed both self-report measures and a communication observational task. Mothers' and fathers' reports of marital quality did not differ between the two groups. Also, no significant differences were found on other marital and psychosocial measures. The most interesting correlations were observed for fathers of children with spinal bifida whose marital quality was associated with parenting stress (r = -.51), depression (r = -.34), and role strain (r = -.34). Overall, the results of this study contribute to the growing body of literature demonstrating that parents of children with a chronic condition are at no greater risk for psychosocial dysfunction, including marital distress, than parents of healthy children. However, to generalize the results, additional research on marital quality with other chronic conditions is required.

Health Issues and Treatments

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... About Us Information For… Media Policy Makers Health Issues & Treatments Language: English (US) Español (Spanish) Recommend on ... people with spina bifida are exactly alike. Health issues and treatments for people with spina bifida will ...

Communicating about obesity and weight-related topics with children with a physical disability and their families: spina bifida as an example.

Science.gov (United States)

McPherson, Amy C; Swift, Judy A; Peters, Michelle; Lyons, Julia; Joy Knibbe, Tara; Church, Paige; Chen, Lorry; Farrell, Renée M; Willem Gorter, Jan

2017-04-01

The purpose of this study was to explore the experiences of children with spina bifida (SB), their families and healthcare professionals (HCPs) when discussing weight-related topics. In-depth qualitative interviews were conducted with HCPs from Canadian outpatient SB clinics (n = 13), children aged 6-18 years with SB (n = 17) and their parents (n = 20). Data were analyzed using a phenomenological approach within an interpretative paradigm. Many HCPs were not confident talking about weight, concerned that they would damage relationships with children and families. Parents wanted routine weight surveillance, but were worried about their children's self-esteem if their weight was discussed. They wanted HCPs to acknowledge the challenges of weight management in children with a physical disability and provide specialized solutions. Children wanted a positively framed and tailored approach to weight discussions, although this had generally not been their experience. Stakeholders describe therapeutic relationships that are currently disconnected around the issue of weight and obesity. However, children, parents and HCPs all believed that discussing this topic was critical. Positively framed, strengths-based and tailored approaches to weight-related discussions are warranted. Implications for Rehabilitation Rates of overweight and obesity in children and youth with physical disabilities are substantially higher than their typically developing peers. Healthcare professionals, children with physical disabilities and families often find weight-related discussions challenging and disconnected. Weight-related discussions should be tailored to the child and family's circumstances and priorities. Positively framed and strengths-based approaches to weight-related discussions are warranted.

Increased sexual health after restored genital sensation in male patients with spina bifida or a spinal cord injury: the TOMAX procedure.

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Overgoor, M L E; de Jong, T P V M; Cohen-Kettenis, P T; Edens, M A; Kon, M

2013-02-01

In this study we prospectively investigated the contribution of restored penile sensation to sexual health in patients with low spinal lesions. In 30 patients (18 with spina bifida, 12 with spinal cord injury, age range 13 to 55 years) with no penile sensation but good groin sensation the new TOMAX (TO MAX-imize sensation, sexuality and quality of life) procedure was performed. This involves microsurgical connection of the sensory ilioinguinal nerve to the dorsal nerve of the penis unilaterally. Extensive preoperative and postoperative neurological and psychological evaluations were made. A total of 24 patients (80%) gained unilateral glans penis sensation. This was initially felt as groin sensation but transformed into real glans sensation in 11 patients (33%). These patients had better overall sexual function (p = 0.022) and increased satisfaction (p = 0.004). Although 13 patients (43%) maintained groin sensation, their satisfaction with sexuality was only slightly less than that of those with glans sensation. Improved sensations helped them manage urinary incontinence, thereby improving personal hygiene and independence. Most patients felt more complete and less handicapped with their penis now part of their body image. They also reported having more open and meaningful sexual relationships with their partners. Tactile and erogenous sensitivity was restored in the glans penis in patients with a low spinal lesion. This new sensation enhanced the quality of sexual functioning and satisfaction. The TOMAX procedure should become standard treatment for such patients. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Espinha bífida aberta: achados ultra-sonográficos e presença de contrações uterinas na predição da evolução motora neonatal Open spina bifida: antenatal ultrasound findings and uterine contractions as predictors of the neonatal neuromotor outcome

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Wagner Jou Hisaba

2003-07-01

Full Text Available OBJETIVO: avaliar a influência das alterações ultra-sonográficas pré-natais e das contrações uterinas de trabalho de parto na evolução motora neonatal em fetos portadores de espinha bífida aberta. MÉTODOS: foram analisados fetos portadores de espinha bífida aberta. Estes fetos foram acompanhados nos serviços de Medicina Fetal do Hospital São Paulo (Universidade Federal de São Paulo e do Hospital e Maternidade Santa Joana. Todos os partos foram realizados nestes serviços e a avaliação neonatal foi realizada pela equipe de Neurocirurgia comum a ambas as instituições Foi observada a influência das alterações ultra-sonográficas (macrocrania, microcrania, nível da falha de fechamento da coluna, pé torto e tipo de apresentação fetal na força muscular de membros inferiores no período neonatal. Foi analisada, também, a influência das contrações uterinas sobre a movimentação dos membros inferiores. Todos os partos foram realizados por cesárea. Foram utilizados os testes de c² e Fisher para comparações categóricas, com pPURPOSE: to determine whether prenatal sonographic findings and uterine contractions can predict neonatal motor outcome in fetuses with open spina bifida. METHODS: we evaluated retrospectively 53 fetuses with open spina bifida from 1993 to 2001. These fetuses were born and followed-up at the fetal medicine units of the Hospital São Paulo ("Universidade Federal de São Paulo" and the "Hospital Santa Joana". The influence of the alterations observed through ultrasound scan on neonatal muscular strength (macrocrania, microcrania, level of the spinal column opening, clubfoot and type of fetus position was evaluated. The influence of uterine contractions on neonatal motor outcome was also evaluated. All deliveries were made through cesarian section. c² and Fisher tests were used for categorical comparisons. A p<0.05 was considered significant. RESULTS: Fifty-three cases of isolated open spina bifida

Methods for developing useful estimates of the costs associated with birth defects.

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Case, Amy P; Canfield, Mark A

2009-11-01

Cost estimates for birth defects are useful to policy makers in deciding the best use of resources to prevent these conditions. Much of the effort in this area has focused on spina bifida, in part because cost savings can be estimated from folic acid-preventable cases. However, comprehensive cost-of-illness estimates for this condition may be too outdated, too general, or not applicable to individual states' environments. Using the live birth prevalence for spina bifida in Texas, we applied recent spina bifida cost estimates to approximate total lifetime medical and other costs for an average live birth cohort of spina bifida cases in Texas. In addition, we queried various government programs that provide services for persons with spina bifida to provide program-specific annual costs for this condition. Applying a recently published average lifetime medical cost of $635,000 per case of spina bifida to the average annual birth cohort of 120 Texas cases, an estimated $76 million in direct and indirect medical and other costs will be incurred in Texas over the life span of that cohort. Examples of estimated medical costs for one year are $5 million for infants using actual employer-paid insurance claims data and $6 million combined for children in two public sector programs. Stakeholders and state policy makers may look to state birth defects registries for useful cost data. Although comprehensive state-specific figures are not available, applying prevalence data to existing estimates and obtaining actual claims and program expenditures may help close this information gap.

Central Somatosensory Networks Respond to a De Novo Innervated Penis: A Proof of Concept in Three Spina Bifida Patients.

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Kortekaas, Rudie; Nanetti, Luca; Overgoor, Max L E; de Jong, Bauke M; Georgiadis, Janniko R

2015-09-01

Spina bifida (SB) causes low spinal lesions, and patients often have absent genital sensation and a highly impaired sex life. TOMAX (TO MAX-imize sensation, sexuality and quality of life) is a surgical procedure whereby the penis is newly innervated using a sensory nerve originally targeting the inguinal area. Most TOMAX-treated SB patients initially experience penile stimulation as inguinal sensation, but eventually, the perception shifts to penis sensation with erotic feelings. The brain mechanisms mediating this perceptual shift, which are completely unknown, could hold relevance for understanding the brain's role in sexual development. The aim of this study was to study how a newly perceived penis would be mapped onto the brain after a lifelong disconnection. Three TOMAX-treated SB patients participated in a functional magnetic resonance imagery experiment while glans penis, inguinal area, and index finger were stimulated with a paint brush. Brush stimulation-induced activation of the primary somatosensory cortex (SI) and functional connectivity between SI and remote cerebral regions. Stimulation of the re-innervated side of the glans penis and the intact contralateral inguinal area activated a very similar location on SI. Yet, connectivity analysis identified distinct SI functional networks. In all three subjects, the middle cingulate cortex (MCC) and the parietal operculum-insular cortex (OIC) were functionally connected to SI activity during glans penis stimulation, but not to SI activity induced by inguinal stimulation. Investigating central somatosensory network activity to a de novo innervated penis in SB patients is feasible and informative. The consistent involvement of MCC and OIC above and beyond the brain network expected on the basis of inguinal stimulation suggests that these areas mediate the novel penis sensation in these patients. The potential role of MCC and OIC in this process is discussed, along with recommendations for further research. �

Anaphylaxis to ethylene oxide - a rare and overlooked phenomenon?

DEFF Research Database (Denmark)

Bache, Søren; Petersen, J T; Garvey, L H

2011-01-01

Spina bifida patients have been reported to be at increased risk of anaphylactic reactions during general anaesthesia. Following a reaction, latex is often incriminated as spina bifida patients are known to have an increased incidence of latex allergy. Ethylene oxide (EO) has recently been...

Fetal endoscopic myelomeningocele closure preserves segmental neurological function

NARCIS (Netherlands)

Verbeek, Renate J.; Heep, Axel; Maurits, Natalia M.; Cremer, Reinhold; Hoving, Eelco W.; Brouwer, Oebele F.; Van der Hoeven, Johannes H.; Sival, Deborah A.

AIM:   Our aim was to compare the effect of prenatal endoscopic with postnatal myelomeningocele closure (fetally operated spina bifida aperta [fSBA]) versus neonatally operated spina bifida aperta [nSBA]) on segmental neurological leg condition. METHOD:   Between 2003 and 2009, the fetal surgical

Spina bifida in a dead stillbirth mongrel dog/ Spinha bífida em um cão natimorto sem raça definida

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Selwyn Arlington Headley

2007-10-01

Full Text Available Spina bifida is a congenital spinal deformity that is characterized by an incomplete closure of the dorsal portion of the vertebrate. This report describes the radiological and pathological findings of this abnormality in a dead still birth mongrel. The dog demonstrated a cleft at the dorsal region of the thoracic vertebrate column, which resulted in exposition and protrusion of the spinal cord and the meninges. Plain radiographs of the ventral-dorsal of the vertebrate column revealed a defect in the fusion of the dorsal spinous processes of the distal thoracic vertebrates (T6 – T13; while the right-lateral view revealed xyphosis of the entire lumbar region of the spine.A espinha bífida é uma deformidade congênita caracterizada pelo incompleto fechamento da porção dorsal de uma ou mais vértebras. O presente caso descreve as alterações radiológicas e patológicas de um cão natimorto sem raça definida. O animal apresentava uma fissura nas vértebras torácicas, resultando em exposição e protusão da medula espinhal e meninges. O exame radiográfico simples em posição ventro dorsal das vértebras revelou defeito na fusão do processo espinhoso das vértebras torácicas (T6-T13, enquanto na radiografia lateral foi observada cifose em toda região lombar.

Systematic review and practice policy statements on urinary tract infection prevention in adults with spina bifida

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Tradewell, Michael; Pariser, Joseph J.; Nimeh, Tony

2018-01-01

Urinary tract infection (UTI) is a source of morbidity and healthcare costs in adults with spina bifida (ASB). UTI prevention strategies are often recommended, but the evidence of various approaches remains unclear. We performed a systematic review to inform a best practice policy statement for UTI prevention in ASB. On behalf of the Neurogenic Bladder Research Group (NBRG.org), we developed an a priori protocol and searched the published English literature for 30 outcomes questions addressing UTI prevention in ASB. The questions spanned the categories of antibiotics, oral supplements, bladder management factors and social support. Where there was little literature in ASB, we included literature from similar populations with neurogenic bladder (NB). Data was abstracted and then reviewed with recommendations made by consensus of all authors. Level of Evidence (LoE) and Grade of Recommendation (GoR) were according to the Oxford grading system. Of 6,433 articles identified by our search, we included 99 publications. There was sufficient evidence to support use of the following: saline bladder irrigation (LoE 1, GoR B), gentamicin bladder instillation (LoE 3, GoR C), single-use intermittent catheterization (IC) (LoE 2, GoR B), hydrophilic catheters for IC (LoE 2, GoR C), intradetrusor onabotulinumtoxinA injection (LoE 3, GoR C), hyaluronic acid (HA) instillation (LoE 1, GoR B), and care coordination (LoE 3, GoR C). There was sufficient evidence to recommend against use of the following: sterile IC (LoE 1, GoR B), oral antibiotic prophylaxis (LoE 2, GoR B), treatment of asymptomatic bacteriuria (LoE 2, GoR B), cranberry (LoE 2, GoR B), methenamine salts (LoE 1, GoR B), and ascorbic acid (LoE1, GoR B). There was insufficient evidence to make a recommendation for other outcomes. Overall, there are few studies in UTI prevention in the specific population of ASB. Research in populations similar to ASB helps to guide recommendations for UTI prevention in the challenging

75 FR 13560 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): RFA DD 10...

Science.gov (United States)

2010-03-22

..., Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): RFA DD 10-002 Public Health Research on Spina Bifida, RFA DD 10-003 Public Health Research on Children and Adults Living With Spina Bifida, RFA DD 10-004 Developing a Prospective Assessment of the Development, Health, and Condition...

Brief Report: An Online Support Intervention--Perceptions of Adolescents with Physical Disabilities

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Stewart, Miriam; Barnfather, Alison; Magill-Evans, Joyce; Ray, Lynne; Letourneau, Nicole

2011-01-01

Adolescents with cerebral palsy and spina bifida report restricted interactions with peers and gaps in social support. A pilot online support intervention offered interactions with peers. Five mentors with cerebral palsy or spina bifida and 22 adolescents with the same disabilities met weekly online for 25 group sessions over six months.…

Early neonatal loss of inhibitory synaptic input to the spinal motor neurons confers spina bifida-like leg dysfunction in a chicken model

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Md. Sakirul Islam Khan

2017-12-01

Full Text Available Spina bifida aperta (SBA, one of the most common congenital malformations, causes lifelong neurological complications, particularly in terms of motor dysfunction. Fetuses with SBA exhibit voluntary leg movements in utero and during early neonatal life, but these disappear within the first few weeks after birth. However, the pathophysiological sequence underlying such motor dysfunction remains unclear. Additionally, because important insights have yet to be obtained from human cases, an appropriate animal model is essential. Here, we investigated the neuropathological mechanisms of progression of SBA-like motor dysfunctions in a neural tube surgery-induced chicken model of SBA at different pathogenesis points ranging from embryonic to posthatch ages. We found that chicks with SBA-like features lose voluntary leg movements and subsequently exhibit lower-limb paralysis within the first 2 weeks after hatching, coinciding with the synaptic change-induced disruption of spinal motor networks at the site of the SBA lesion in the lumbosacral region. Such synaptic changes reduced the ratio of inhibitory-to-excitatory inputs to motor neurons and were associated with a drastic loss of γ-aminobutyric acid (GABAergic inputs and upregulation of the cholinergic activities of motor neurons. Furthermore, most of the neurons in ventral horns, which appeared to be suffering from excitotoxicity during the early postnatal days, underwent apoptosis. However, the triggers of cellular abnormalization and neurodegenerative signaling were evident in the middle- to late-gestational stages, probably attributable to the amniotic fluid-induced in ovo milieu. In conclusion, we found that early neonatal loss of neurons in the ventral horn of exposed spinal cord affords novel insights into the pathophysiology of SBA-like leg dysfunction.

Neural Tube Defects: Epidemiologic Factors, Clinical Presentation ...

African Journals Online (AJOL)

Of the 103 babies, 87 (84.5%) had spina bifida cystica, 15 (14.6%) had occipital encephalocele, while 1 (0.9%) had anencephaly and died within 8 hours of delivery. All the 87 patients with spina bifida cystica were ruptured and infected at presentation, with seven of them dying from overwhelming sepsis. Most of the babies ...

[Ultrasound measurement of fetal posterior fossa at 11 to 13⁺⁶ gestational weeks for screening open spina bifida].

Science.gov (United States)

Qin, Feng-Zhen; Li, Sheng-Li; Wen, Hua-Xuan; Ouyang, Yu-Rong; Zheng, Qiong; Bi, Jing-Ru

2014-06-01

To establish the normal reference ranges of transabdominal ultrasound measurements of the posterior fossa structure in fetuses at 11 to 13⁺⁶ gestational weeks and explore their clinical value in screening open spina bifida (OSB). Between January, 2013 and September, 541 randomly selected normal fetuses underwent nuchal translucency at the gestational age 11 to 13⁺⁶ weeks. The parameters of the posterior fossa were measured in mid-sagittal view of the fetal face and the axial view of the transverse cerebellum insonated through the anterior fontanel by transabdominal ultrasound to establish the normal reference ranges. The measurements were obtained from 3 fetuses with OSB for comparison with the reference ranges. In normal fetuses, the parameters of the posterior fossa measured in the two views showed no significant differences (P>0.05). Two high echogenic lines were observed in normal fetuses, as compared with one in fetuses with OSB representing the posterior border of the brain stem and the anterior border of the fourth ventricle. The line between the posterior border of the fourth ventricle and the anterior border of the cisterna magna was not displayed in fetuses with OSB. The anteroposterior diameters of the brain stem, the fourth ventricle, and cisterna magna all increased in positive correlation with the crown-lump length in normal fetuses. In the 3 OSB fetuses, the anteroposterior diameter of the brain stem exceeded the 95th percentile and the anteroposterior diameter of fourth ventrical-cisterner magena was below the 5th percentile of the reference range for CRL; the brain stem to fourth ventrical-cisterner magena anteroposterior diameter ratio was increased to above 1. The established normal reference ranges of the parameters of fetal posterior fossa may provide assistance in early OSB detection. The absence of the posterior border of the fourth ventricle and the anterior border of the cisterna magna and a brainstem to fourth ventrical

Valproic acid monotherapy in pregnancy and major congenital malformations

DEFF Research Database (Denmark)

Jentink, Janneke; Loane, Maria A; Dolk, Helen

2010-01-01

The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

Science.gov (United States)

Hart, Joseph; Miriyala, Kalpana

2017-09-01

Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

Department of Clinical Investigation, Annual Research Progress Report, Fiscal Year 2007 (Madigan Army Medical Center)

Science.gov (United States)

2007-09-30

the Elderly Perry JT #206038 T L Venous Distensibility Index as a Predictor of Radiocephalic Arteriovenous Fistula Maturation Perry JT...specific aims: (1) to increase our understanding of the frequency and severity of pain problems in youth with spina bifida (SB), muscular dystrophy...Subgroups of youth with spina bifida (30), cerebral palsy (57), and muscular disorders (20) in the study from other sites have been identified and

Continued Folic Acid Supplementation Throughout Pregnancy, May Cause Colorectal Cancer In The Future

OpenAIRE

Somayeh Zaminpira; Sorush Niknamian

2017-01-01

Folic acid supplementation during early pregnancy protects from spina bifida and avoids either a spontaneous miscarriage or a severe developmental defect causing early postnatal death, associated with spina bifida, microcephaly or anencephaly. However, Based on epidemiological data in both the U.S. and Canada showed an increase in the incidence of colorectal cancer beginning when folic acid fortification in wheat-based products became mandatory and continued folic acid supplementation through...

Spina Bifida

Science.gov (United States)

... with language and reading comprehension, and trouble learning math. Additional problems such as latex allergies, skin problems, ... and fetal ultrasound. The MSAFP screen measures the level of a protein called alpha-fetoprotein (AFP), which ...

Spina Bifida

Science.gov (United States)

... how your baby’s brain, spine, spinal cord and meninges develop. Meninges are the tissues that cover and protect the ... defect . In this condition, the fat, bone or meninges around the spinal cord don’t form correctly. ...

Residential Agricultural Pesticide Exposures and Risk of Neural Tube Defects and Orofacial Clefts Among Offspring in the San Joaquin Valley of California

Science.gov (United States)

Yang, Wei; Carmichael, Suzan L.; Roberts, Eric M.; Kegley, Susan E.; Padula, Amy M.; English, Paul B.; Shaw, Gary M.

2014-01-01

We examined whether early gestational exposures to pesticides were associated with an increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft palate only. We used population-based data along with detailed information from maternal interviews. Exposure estimates were based on residential proximity to agricultural pesticide applications during early pregnancy. The study population derived from the San Joaquin Valley, California (1997–2006). Analyses included 73 cases with anencephaly, 123 with spina bifida, 277 with CLP, and 117 with cleft palate only in addition to 785 controls. A total of 38% of the subjects were exposed to 52 chemical groups and 257 specific chemicals. There were relatively few elevated odds ratios with 95% confidence intervals that excluded 1 after adjustment for relevant covariates. Those chemical groups included petroleum derivatives for anencephaly, hydroxybenzonitrile herbicides for spina bifida, and 2,6-dinitroaniline herbicides and dithiocarbamates-methyl isothiocyanate for CLP. The specific chemicals included 2,4-D dimethylamine salt, methomyl, imidacloprid, and α-(para-nonylphenyl)-ω-hydroxypoly(oxyethylene) phosphate ester for anencephaly; the herbicide bromoxynil octanoate for spina bifida; and trifluralin and maneb for CLP. Adjusted odds ratios ranged from 1.6 to 5.1. Given that such odds ratios might have arisen by chance because of the number of comparisons, our study showed a general lack of association between a range of agricultural pesticide exposures and risks of selected birth defects. PMID:24553680

Neural tube defects in Malaysia: data from the Malaysian National Neonatal Registry.

Science.gov (United States)

Boo, Nem-Yun; Cheah, Irene G S; Thong, Meow-Keong

2013-10-01

This study aimed to determine the prevalence and early outcome of neural tube defects (NTDs) in Malaysia. This prospective study included all neonates with NTDs (spina bifida, anencephaly, encephalocoele) born in 2009 in 32 Malaysian hospitals in the Malaysian National Neonatal Network. The prevalence of NTDs was 0.42 per 1000 live births, being highest among the indigenous people of Sarawak (1.09 per 1000 live births) and lowest among Malaysians of Chinese descent (0.09 per 1000 live births). The most common type of NTDs was anencephaly (0.19 per 1000 live births), followed by spina bifida (0.11 per 1000 live births) and encephalocoele (0.07 per 1000 live births). Majority of the infants with anencephaly (94.5%, n = 51), 45.8% (n = 11) with encephalocoele and 9.5% (n = 4) with spina bifida died. The median duration of hospital stay was 4 (range: 0-161) days. NTDs were common in Malaysia. Mortality was high. Long-term monitoring of NTD prevalence following folic fortification of food is recommended.

Iterative Design and Usability Testing of the iMHere System for Managing Chronic Conditions and Disability

Directory of Open Access Journals (Sweden)

Andrea D. Fairman

2016-07-01

Full Text Available A novel mobile health platform, Interactive Mobile Health and Rehabilitation (iMHere, is being developed to support wellness and self-management among people with chronic disabilities. The iMHere system currently includes a smartphone app with six modules for use by persons with disabilities and a web portal for use by medical and rehabilitation professionals or other support personnel. Our initial clinical research applying use of this system provides insight into the feasibility of employing iMHere in the development of self-management skills in young adults (ages 18-40 years with spina bifida (Dicianno, Fairman, McCue, Parmanto, Yih, et al., 2015. This article is focused on describing the iterative design of the iMHere system including usability testing of both the app modules and clinician portal. Our pilot population of persons with spina bifida fostered the creation of a system appropriate for people with a wide variety of functional abilities and needs. As a result, the system is appropriate for use by persons with various disabilities and chronic conditions, not only spina bifida. In addition, the diversity of professionals and support personnel involved in the care of persons with spina bifida (SB also enabled the design and implementation of the iMHere system to meet the needs of an interdisciplinary team of providers who treat various conditions. The iMHere system has the potential to foster communication and collaboration among members of an interdisciplinary healthcare team, including individuals with chronic conditions and disabilities, for client-centered approach to support self-management skills.

Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function

Directory of Open Access Journals (Sweden)

Sakina Rashid

2016-01-01

Full Text Available Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida. We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery.

Teaduskohtumine Kanadas / Ann Paal

Index Scriptorium Estoniae

Paal, Ann

2010-01-01

Kanadas Vancouveris 7.-10. juunini toimunud 54. SRHSB (Society for research into Hydrocephalus and Spina Bifida) seltsi aastakoosolekust, kus kogunesid seljaajusonga- ja vesipeahaigetega tegelevad professionaalid üle maailma

38 CFR 21.8140 - Evaluation and improvement of vocational potential.

Science.gov (United States)

2010-07-01

... Rehabilitation for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Evaluation and... training program; (5) Language training, speech and voice correction, training in ambulation, and one-hand...

Hydrocephalus in spina bifida

African Journals Online (AJOL)

deep concern. It is therefore .... Natural history of hydrocephalus in children with spinal open neural tube defect. Surg. Neurol Int ... fluid shunt infection: e Hydrocephalus Clinical Research Network Quality Improvement Initiative. J Neurosurg ...

Hypertension and Spina Bifida

Science.gov (United States)

SBA National Resource Center: 800-621-3141 Hypertension A disease that often goes undetected. What is hypertension? Hypertension, also called high blood pressure , is a condition in which the arteries of ...

38 CFR 17.903 - Payment.

Science.gov (United States)

2010-07-01

... Benefits for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects § 17.903 Payment... the beneficiary has no legal obligation to pay, such as services obtained at a health fair, (5...

Neural Tube Defects

Science.gov (United States)

Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

Directory of Open Access Journals (Sweden)

Zborovska N.V. Zborovska N.V.

2012-04-01

While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

Urban-Rural Variation in the Occurrence of Neural Tube Defects in Texas

Science.gov (United States)

This study examined the pattern and magnitude of urban-rural variation in anencephaly, spina bifida without anencephaly, and encephalocele in Texas using four different indicators of urban-rural status for the period 1999 to 2003.

Are There Disorders or Conditions Associated with Neural Tube Defects?

Science.gov (United States)

... additional physical or psychological conditions, including digestive, vision, sexual, social, and emotional problems; obesity; and depression. Centers for Disease Control and Prevention. (2011). Spina bifida: Health issues & treatments. Retrieved March 20, 2012, from http://www.cdc. ...

The cerebro-costo-mandibular syndrome: third report of familial occurrence

NARCIS (Netherlands)

Hennekam, R. C.; Beemer, F. A.; Huijbers, W. A.; Hustinx, P. A.; van Sprang, F. J.

1985-01-01

Two male sibs with cerebro-costo-mandibular syndrome and spina bifida are described. The parents are physically and radiologically normal. A short review of the pertinent literature is given with special emphasis on the mode of inheritance

What variables influence the ability of an AFO to improve function and when are they indicated?

Science.gov (United States)

Malas, Bryan S

2011-05-01

Children with spina bifida often present with functional deficits of the lower limb associated with neurosegmental lesion levels and require orthotic management. The most used orthosis for children with spina bifida is the ankle-foot orthosis (AFO). The AFO improves ambulation and reduces energy cost while walking. Despite the apparent benefits of using an AFO, limited evidence documents the influence of factors predicting the ability of an AFO to improve function and when they are indicated. These variables include AFO design, footwear, AFO-footwear combination, and data acquisition. When these variables are not adequately considered in clinical decision-making, there is a risk the AFO will be abandoned prematurely or the patient's stability, function, and safety compromised. The purposes of this study are to (1) describe the functional deficits based on lesion levels; (2) identify and describe variables that influence the ability of an AFO to control deformities; and (3) describe what variables are indicated for the AFO to control knee flexion during stance, hyperpronation, and valgus stress at the knee. A selective literature review was undertaken searching MEDLINE and Cochrane databases using terms related to "orthosis" and "spina bifida." Based on previous studies and gait analysis data, suggestions can be made regarding material selection/geometric configuration, sagittal alignment, footplate length, and trim lines of an AFO for reducing knee flexion, hyperpronation, and valgus stress at the knee. Further research is required to determine what variables allow an AFO to improve function.

Epidemiologic study of neural tube defects in Los Angeles County. I. Prevalence at birth based on multiple sources of case ascertainment

Energy Technology Data Exchange (ETDEWEB)

Sever, L.E. (Pacific Northwest Lab., Richland, WA); Sanders, M.; Monsen, R.

1982-01-01

Epidemiologic studies of the neural tube defects (NTDs), anencephalus and spina bifida, have for the most part been based on single sources of case ascertainment in past studies. The present investigation attempts total ascertainment of NTD cases in the newborn population of Los Angeles County residents for the period 1966 to 1972. Design of the study, sources of data, and estimates of prevalence rates based on single and multiple sources of case ascertainment are here discussed. Anencephalus cases totaled 448, spina bifida 442, and encephalocele 72, giving prevalence rates of 0.52, 0.51, and 0.08 per 1000 total births, respectively, for these neural tube defects - rates considered to be low. The Los Angeles County prevalence rates are compared with those of other recent North American studies and support is provided for earlier suggestions of low rates on the West Coast.

Encopresis (Soiling)

Science.gov (United States)

... constipation after stressful life events such as a divorce or the death of a close relative. Although rectal surgery or birth defects such as Hirschsprung disease and spina bifida can cause constipation or encopresis without constipation, this is uncommon. ...

Observed and perceived parental overprotection in relation to psychosocial adjustment in preadolescents with a physical disability: the mediational role of behavioral autonomy.

Science.gov (United States)

Holmbeck, Grayson N; Johnson, Sharon Z; Wills, Karen E; McKernon, Wendy; Rose, Brigid; Erklin, Shannon; Kemper, Therese

2002-02-01

The purpose of this study was to tes a mediational model of associations between parental overprotectiveness (OP), behavioral autonomy. and psychosocial adjustment in 68 families with 8- and 9-year-old preadolescents with spipa bifida and a demographically matched sample of 68 families with able-bodied children. Measures included questionnaire and observational assessments of parental OP; parent and child reports of behavioral autonomy; and parent, child, and teacher reports of preadolescent adjustment. On the basis of both questionnaire and observational measures of OP, mothers and fathers of children with spina bifida were significantly more overprotective than their counterparts in the able-bodied sample, although this group difference was partially mediated by children's cognitive ability. Across samples, mothers were more likely to be overprotective than fathers. Both questionnaire and observational measures of parental OP were associated with lower levels of preadolescent decision-making autonomy as well as with parents being less willing to grant autonomy to their offspring in the future. For the questionnaire measure of OP, and only for the spina bifida sample. the mediational model was supported such that parental OP was associated with less behavioral autonomy, which was, in turn, associated with more externalizing problems. Findings are discussed in relation to the literature on parenting, autonomy development, and pediatric psychology.

Central African Journal of Medicine - Vol 46, No 11 (2000)

African Journals Online (AJOL)

The incidence of cleft lip, cleft palate, hydrocephalus and spina bifida at Queen Elizabeth Central Hospital, Blantyre, Malawi. B C Msamati, P S Igbigbi, J E Chisi. http://dx.doi.org/10.4314/cajm.v46i11.8572 ...

76 FR 58567 - Proposed Information Collection (Request for Transportation Expense Reimbursement) Activity...

Science.gov (United States)

2011-09-21

... (Request for Transportation Expense Reimbursement) Activity; Comment Request AGENCY: Veterans Benefits... needed to determine children with spina bifida eligibility for reimbursement of transportation expenses...: Request for Transportation Expense Reimbursement (38 CFR 21.8370). OMB Control Number: 2900-0580. Type of...

Cost-effectiveness of periconceptional supplementation of folic acid

NARCIS (Netherlands)

Postma, MJ; Londeman, J; Veenstra, M; de Walle, HEK; de Jong-van den Berg, LTW

Background: Supplementation of folic acid prior to and in the beginning of pregnancy may prevent neural tube defects (NTDs) in newborns - such as spina bifida - and possibly other congenital malformations. Objective. To estimate cost effectiveness of periconceptional supplementation of folk: acid

Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal Prevalence of neural tube defects in Asturias (Spain: impact of prenatal diagnosis

Directory of Open Access Journals (Sweden)

Enrique García López

2009-12-01

Full Text Available Objetivo Describir la frecuencia de defectos del tubo neural (DTN -anencefalia, espina bífida y encefalocele-en Asturias, su evolución temporal y el impacto del diagnóstico prenatal. Métodos: Se estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990-2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: La prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%, lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos. Conclusiones: En Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado.Objective: To describe the frequency and prevalence trend for neural tube defects (NTD (anencephaly, spina bifida and encephalocele in Asturias (Spain, as well as the impact of prenatal diagnosis programs. Methods: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. Results: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1

Genetics Home Reference: spina bifida

Science.gov (United States)

... a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, ...

Perinatal management of spina bifida

African Journals Online (AJOL)

(MSAFP) measurement, fetal ultrasonography and, where necessary, amniocentesis. ... feeding, but a nasogastric tube may be required if there is evidence of swallowing ... temporary CSF drainage may be required to prevent leakage from the.

Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development.

Directory of Open Access Journals (Sweden)

Chen Qian

Full Text Available Platelet-derived growth factor receptor alpha (PDGFRα is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of Pdgfra expression is crucial for embryo development, and deletion of Pdgfra caused developmental defects of multiple endoderm and mesoderm derived structures, resulting in a complex phenotypes including orofacial cleft, spina bifida, rib deformities, and omphalocele in mice. However, it is not clear if deletion of Pdgfra at different embryonic stages differentially affects these structures.To address the temporal requirement of Pdgfra in embryonic development.We have deleted the Pdgfra in Pdgfra-expressing tissues at different embryonic stages in mice, examined and quantified the developmental anomalies.Current study showed that (i conditional deletion of Pdgfra at different embryonic days (between E7.5 and E10.5 resulted in orofacial cleft, spina bifida, rib cage deformities, and omphalocele, and (ii the day of Pdgfra deletion influenced the combinations, incidence and severities of these anomalies. Deletion of Pdgfra caused apoptosis of Pdgfra-expressing tissues, and developmental defects of their derivatives.Orofacial cleft, spina bifida and omphalocele are among the commonest skeletal and abdominal wall defects of newborns, but their genetic etiologies are largely unknown. The remarkable resemblance of our conditional Pdgfra knockout embryos to theses human congenital anomalies, suggesting that dysregulated PDGFRA expression could cause these anomalies in human. Future work should aim at defining (a the regulatory elements for the expression of the human PDGFRA during embryonic development, and (b if mutations / sequence variations of these regulatory elements cause these anomalies.

A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

Directory of Open Access Journals (Sweden)

Ambra Iuculano

2014-01-01

Full Text Available The intracranial translucency (IT is a recently introduced marker of open spina bifida (OSB. In this study, we describe a case of a fetus affected by Blake’s pouch cyst which showed alterations of BS/BSOB ratio at the first trimester screening.

38 CFR 21.8360 - Satisfactory conduct and cooperation.

Science.gov (United States)

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Satisfactory conduct and... Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Satisfactory Conduct and Cooperation § 21.8360 Satisfactory conduct and cooperation. The provisions for satisfactory conduct and cooperation...

ISSN 2073 ISSN 2073 9990 East Cent. Afr. J. 9990 East Cent. Afr. J ...

African Journals Online (AJOL)

Hp 630 Dual Core

associated with spina bifida and tibial hemimelia (4 6). Transient muscular and collagen ... elongation and posteromedial releases) if performed. Treatment outcome was determined by ... Six feet required open elongation of the tendo achilles, three of which also had posterior capsulotomy. Relapse was observed in 8 feet ...

Intra-uterine tissue engineering of full-thickness skin defects in a fetal sheep model

NARCIS (Netherlands)

Hosper, Nynke A.; Eggink, Alex J.; Roelofs, Luc A. J.; Wijnen, Rene M. H.; van Luyn, Marja J. A.; Bank, Ruud A.; Harmsen, Martin C.; Geutjes, Paul J.; Daamen, Willeke F.; van Kuppevelt, Toin H.; Tiemessen, Dorien M.; Oosterwijk, Egbert; Crevels, Jane J.; Blokx, Willeke A. M.; Lotgering, Fred K.; van den Berg, Paul P.; Feitz, Wout F. J.

In spina bifida the neural tube fails to close during the embryonic period and it is thought that prolonged exposure of the unprotected spinal cord to the amniotic fluid during pregnancy causes additional neural damage. Intra-uterine repair might protect the neural tissue from exposure to amniotic

Home Care for Children with Chronic Illnesses and Severe Disabilities: A Bibliography and Resource Guide.

Science.gov (United States)

Wells, Alice; And Others

The bibliography and resource guide summarizes relevant research and information on home care for children with disabilities and chronic illnesses, including those with such diagnoses as spina bifida, cerebral palsy, severe mental retardation, acquired immune deficiency syndrome (AIDS), hemophilia, sickle cell anemia, autism, or failure-to-thrive…

38 CFR 21.8370 - Authorization of transportation services.

Science.gov (United States)

2010-07-01

... Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Transportation Services § 21... non-VA programs; or (3) Can commute to school with family, friends, or fellow students. (Authority: 38... has approved the information collection requirements in this section under control number 2900-0580...

Pediatric Psychology: Applications to the Schools Needs of Children with Health Disorders.

Science.gov (United States)

Perry, Joseph D.; Flanagan, William K.

1986-01-01

A review of pediatric psychology considers interventions by school personnel to promote the school adjustment of children with serious medical illness. Psychosocial and educational impacts of cancer, spina bifida, enuresis, and encopresis are discussed; and suggestions for managing children with chronic health disorders, serious illness, and…

Les encephaloceles au Chu Tokoin de Lome | Gnassingbe | Journal ...

African Journals Online (AJOL)

Seven of the patients had occipital encephalocele. The associated malformations were: spina bifida (1 case), rounded forehead associated with a polydactyly (1 case) and microcephaly associated with a syndactyly (1 case). Eight (8) patients had benefitted a surgical cure of the encephalocele. A patient died at birth.

Neural tube defects – recent advances, unsolved questions and controversies

Science.gov (United States)

Copp, Andrew J.; Stanier, Philip; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting around 1 in every 1000 pregnancies. Here we review recent advances and currently unsolved issues in the NTD field. An innovation in clinical management has come from the demonstration that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention by folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in UK. Genetic predisposition comprises the majority of NTD risk, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but study of mouse NTD models shows that anencephaly, open spina bifida and craniorachischisis result from failure of primary neurulation, while skin-covered spinal dysraphism results from defective secondary neurulation. Other ‘NTD’ malformations, such as encephalocele, are likely to be post-neurulation disorders. PMID:23790957

Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations.

NARCIS (Netherlands)

Jentink, J.; Loane, M.A.; Dolk, H.; Barisic, I.; Garne, E.; de Jong-van den Berg, L.T.W.; Morris, Joan K.

2010-01-01

Background: The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited. Methods: We first combined data from eight published cohort studies (1565 pregnancies in which the women

38 CFR 21.8100 - Counseling.

Science.gov (United States)

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.8100... Vietnam Veterans-Spina Bifida and Covered Birth Defects Counseling § 21.8100 Counseling. An eligible child requesting or receiving services and assistance under this subpart will receive professional counseling by VR...

38 CFR 21.8030 - Requirement for evaluation of child.

Science.gov (United States)

2010-07-01

... evaluation of child. 21.8030 Section 21.8030 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Evaluation § 21.8030 Requirement for evaluation of child. (a) Children to be evaluated. The VR&E Division will evaluate each child...

EDITORIALS Latex allergy: 'Plight, rights and fights'

African Journals Online (AJOL)

anaphylaxis and life-threatening food allergies to cross-reacting fruit allergens such as kiwi, banana, tomato and chestnuts). Latex allergy is also encountered more frequently in children with spina bifida than in other hospitalised children.[7] Sensitisation is usually confirmed by commercial latex allergy skinprick testing or by ...

Epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth

Energy Technology Data Exchange (ETDEWEB)

Sever, L.E.

1982-01-01

Epidemiologic characteristics of neural tube defect (NTD) births occurring in Los Angeles County, California, residents during the period 1966-1972 are presented. The prevalence at birth was 0.52/1000 births for anencephalus, 0.51/1000 for spina bifida, and 0.08/1000 for encephalocele, rates considered to be low for a predominantly white population. We hypothesized that environmental (nongenetic) factors are of less etiologic importance in a low-prevalence population than in areas or time periods with high prevalence. We tested that hypothesis by examining epidemiologic characteristics of NTDs in Los Angeles County and comparing them with high-prevalence populations. The data did not support a major etiologic role for environmental factors: (1) no significant differences between rates by month of birth or conception; (2) no significant association with maternal age or parity for anencephalus; for spina bifida a significant maternal age effect (P < 0.01) and for encephalocele a parity effect (P < 0.02); and (3) no significant relationship with father's occupational class for either anencephalus or encephalocele but a marginally significant (P < 0.05) inverse association for spina bifida when a statistic based on ordinal relationships was used. Findings supporting the importance of genetic factors in etiology included: (1) a high percentage of males; (2) a higher twin concordance rate than in high-prevalence populations; and (3) an anencephalus rate among blacks comparable with rates for blacks in other United States populations. Our findings in conjunction with those from other areas and times of low prevalence suggest environmental factors play a relatively insignificant role in the etiology of NTDs in such populations.

O cuidado da criança com espinha bífida pela família no domicílio El cuidado del niño con espina bifida por la família en el domicílio The care of children with spina bifida in the family home

Directory of Open Access Journals (Sweden)

Maria Aparecida Munhoz Gaiva

2009-12-01

Full Text Available O objetivo deste estudo foi descrever a experiência das famílias que têm crianças portadoras de Espinha Bífida no cuidado cotidiano. Realizamos um estudo de abordagem qualitativa, empregando para a coleta de dados a entrevista semiestruturada com nove famílias. A análise dos dados foi desenvolvida com suporte no método da Análise Temática. Os resultados permitiram compreender o impacto da malformação da criança sobre a família e as dificuldades para prestar o cuidado cotidiano para a criança. O estudo também aponta a necessidade de os profissionais de saúde e enfermagem pensarem novos modelos de cuidar que sejam centrados nas necessidades da família e não apenas no processo patológico da criança.El objetivo del presente estudio fue describir la experiencia de las familias que tienen niños con espina bífida con el cuidado domiciliar. Realizamos una investigación con abordaje cualitativo que se sirvió de entrevistas semi-estructuradas con 9 familias para la obtención de los datos. El método de análisis temático fundamentó el análisis de estos datos. Los resultados permitieron comprender el impacto que causa la malformación del niño a la familia y las dificultades a las que enfrentan para poder brindar el cuidado diario a estos niños. Además, este estudio destacó la importancia que tienen que los profesionales de la salud y la enfermería para que desarrollen nuevos modelos de cuidado que se centren en las necesidades familiares y no sólo en el proceso patológico del niño.This study aimed to describe the experience of families who have children with spina bifida in the daily care. We conducted a study of qualitative approach, employing to collect data on semi-structured interviews with 09 families. Data analysis was developed with support in the method of thematic analysis. The results showed, understand the impact of malformation of the child on the family and the difficulties to provide the daily care for

38 CFR 21.8410 - Delegation of authority.

Science.gov (United States)

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Delegation of authority... Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Delegation of Authority § 21.8410 Delegation of authority. The Secretary delegates authority for making findings and decisions under 38 U.S.C...

Transition to Adult-Oriented Health Care: Perspectives of Youth and Adults with Complex Physical Disabilities

Science.gov (United States)

Young, Nancy L.; Barden, Wendy S.; Mills, Wendy A.; Burke, Tricia A.; Law, Mary; Boydell, Katherine

2009-01-01

Introduction: The transition to adulthood is extremely difficult for individuals with disabilities. We sought to explore the specific issue of transition to adult-oriented health care in a Canadian context. Methods: We conducted semi-structured individual interviews with 15 youth and 15 adults with cerebral palsy, spina bifida, and acquired brain…

Neuropathology and Structural Changes in Hydrocephalus

Science.gov (United States)

Del Bigio, Marc R.

2010-01-01

In the context of spina bifida, hydrocephalus is usually caused by crowding of the posterior fossa with obstruction to cerebrospinal fluid flow from the forth ventricle, and less often by malformation of the cerebral aqueduct. Enlargement of the cerebral ventricles causes gradual destruction of periventricular white matter axons. Motor, sensory,…

Calcanectomy, an alternative amputation? Two case reports

NARCIS (Netherlands)

Geertzen, Jan H. B.; Jutte, Paul; Rompen, Christiaan; Salvans, Merse

2009-01-01

A limb amputation is a traumatic experience for the amputee but it is also a challenge for the recipient to get used to a new situation and reach her/his greatest level of independence. Two patients are presented who had undergone a total calcanectomy. In the first case, a woman with spina bifida

Case report

African Journals Online (AJOL)

abp

and imperforate anus. Figure 3: The examination of the spinal column revealed a spina bifida occulta. References. 1. Varygin V, Bernotas S, Gurskas P, Karmanovas V, et al. Cloacal exstrophy: a case report and literature review. Medicina. 1978;. 47(12): 682-5. PubMed| Google Scholar. 2. Carey JC, Greenbaum B, Hall BD.

Author Details

African Journals Online (AJOL)

Igbigbi, P S. Vol 46, No 11 (2000) - Articles The incidence of cleft lip, cleft palate, hydrocephalus and spina bifida at Queen Elizabeth Central Hospital, Blantyre, Malawi Abstract. ISSN: 0008-9176. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL ...

When Your Baby Has a Birth Defect

Science.gov (United States)

... Genetic Testing Common Diagnoses in the NICU Gene Therapy and Children Down Syndrome Cerebral Palsy Spina Bifida Prenatal Genetic Counseling What Is a Gene? Cleft Lip and Cleft Palate Down Syndrome The Basics on Genes and Genetic ... only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

Congenital Uterovaginal Prolapse Present at Birth

African Journals Online (AJOL)

of the buttocks down to the legs with crepe bandage for 72 h. Key words: Breech, congenital, Nigeria, prolapse, spina bifida, utero- ... pressure during breech delivery stretches the pelvic floor muscle and the ligaments thus increasing the risk of ... and mucosal ulceration sets in. In conclusion, UVP presenting at birth is a rare ...

How the contractualist account of preconception negligence undermines prenatal reproductive autonomy.

Science.gov (United States)

Melanson, Glen

2013-08-01

Suppose a physician advises a woman to delay her planned pregnancy for a few months in order to significantly reduce the likelihood that her baby will suffer with Spina Bifida. If the woman chooses to ignore this advice and conceives soon after, I believe most people would consider it a matter of common sense that the child thus born is a victim of this woman's negligence, even if it is fortunate enough to not be burdened with Spina Bifida. This common sense judgement appeared to have been done in by the fact that the timing of conception can be identity-influencing, and so the child that is born only exists because of its mother's decision to ignore her physician's advice. However, recently, contemporary contractualist theories have been used to make sense of preconception negligence towards persons whose existence is a result of that same negligence. I will briefly discuss this interesting development and then show how this retrieval of the common sense judgement comes at a great cost to prenatal reproductive autonomy.

Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.

Science.gov (United States)

Ting, Stephen B; Wilanowski, Tomasz; Auden, Alana; Hall, Mark; Voss, Anne K; Thomas, Tim; Parekh, Vishwas; Cunningham, John M; Jane, Stephen M

2003-12-01

The neural tube defects (NTDs) spina bifida and anencephaly are widely prevalent severe birth defects. The mouse mutant curly tail (ct/ct) has served as a model of NTDs for 50 years, even though the responsible genetic defect remained unrecognized. Here we show by gene targeting, mapping and genetic complementation studies that a mouse homolog of the Drosophila grainyhead (grh) gene, grainyhead-like-3 (Grhl3), is a compelling candidate for the gene underlying the curly tail phenotype. The NTDs in Grhl3-null mice are more severe than those in the curly tail strain, as the Grhl3 alleles in ct/ct mice are hypomorphic. Spina bifida in ct/ct mice is folate resistant, but its incidence can be markedly reduced by maternal inositol supplementation periconceptually. The NTDs in Grhl3-/- embryos are also folate resistant, but unlike those in ct/ct mice, they are resistant to inositol. These findings suggest that residual Grhl3 expression in ct/ct mice may be required for inositol rescue of folate-resistant NTDs.

Type 2 Diabetes and Spina Bifida

Science.gov (United States)

... may initially appear as “pre-diabetes,” also called metabolic syndrome. What Causes Type 2 Diabetes? Obesity is the ... Sleep disordered breathing -snoring and pauses in breathing • Exercise intolerance. • ... metabolic panel (which includes liver enzymes and electrolytes) • Fasting ...

Folic Acid: Data and Statistics

Science.gov (United States)

... provider (33%) Magazine or newspaper (31%) Radio or television (23%) Women aged 18-24 years were more ... The total lifetime cost of care for a child born with spina bifida is estimated to be $791,900. 1 [ Read ... is Common in Women of Reproductive Age The Journal of Nutrition has published a study that looks at the ...

Cerebro-costo-mandibular syndrome: Report of two cases.

Science.gov (United States)

Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

2011-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

Food Additives Permitted for Direct Addition to Food for Human Consumption; Folic Acid. Final rule.

Science.gov (United States)

2016-04-15

The Food and Drug Administration (FDA or we) is amending the food additive regulations to provide for the safe use of folic acid in corn masa flour. We are taking this action in response to a food additive petition filed jointly by Gruma Corporation, Spina Bifida Association, March of Dimes Foundation, American Academy of Pediatrics, Royal DSM N.V., and National Council of La Raza.

Aetiology and antenatal diagnosis of spina bifida

African Journals Online (AJOL)

includes both spontaneous and therapeutic pregnancy losses. Isolated NTDs are ... Documentation of folic acid deficiency in a group of mothers with children affected ... for folate supplementation and food fortification in a number of countries ...

Computed tomography in abnormalities of the hip

Energy Technology Data Exchange (ETDEWEB)

Visser, J.D.; Jonkers, A.; Klasen, H.J. (Rijksuniversiteit Groningen (Netherlands). Academisch Ziekenhuis); Hillen, B. (Rijksuniversiteit Groningen (Netherlands). Lab. voor Anatomie en Embryologie)

1982-06-26

The value of computed tomography in the assessment of abnormalities of the hip is demonstrated with the aid of an anatomical preparation and in patients with, respectively, congenital dislocation of a hip, dislocation of the hip in spina bifida, an acetabular fracture and a Ewing tumour. The anteversion of the acetabulum and femur and the instability index of the hip joint can be measured by means of computed tomography.

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

Science.gov (United States)

Cadenas-Benitez, N M; Yanes-Sosa, F; Gonzalez-Meneses, A; Cerrillos, L; Acosta, D; Praena-Fernandez, J M; Neth, O; Gomez de Terreros, I; Ybot-González, P

2014-03-26

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

Congenital spinal malformations; Kongenitale spinale Malformationen

Energy Technology Data Exchange (ETDEWEB)

Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

2001-12-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

Gorlin-Goltz syndrome:

OpenAIRE

Binić, Ivana; Jovanović, Dragan L.; Ljubenović, Dragiša; Ljubenović, Milanka; Stanojević, Milenko

2007-01-01

Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

Pediatric Neurosurgery Patients Need More than a Pediatric Neurosurgeon. Part II. A Clinical Report: In the USA Lack of Parent/Caregiver Compliance Interferes with the Patient Care Sequence.

Science.gov (United States)

MacGregor, Teresa L; James, Hector E; Everett, Laurel; Childers, David O

2016-01-01

We have previously reported on the initiation, development, and preliminary results of a comprehensive multidisciplinary team for the long-term management of children with neurosurgical conditions other than spina bifida. This report addresses the follow-up of the care of these patients and identifies limitations in the care sequence including, but not limited to, lack of parental/caregiver compliance, unmet educational needs, and medical insurance issues. © 2016 S. Karger AG, Basel.

Neurological deficits in the life and works of Frida Kahlo.

Science.gov (United States)

Budrys, Valmantas

2006-01-01

World-famous Mexican painter Frida Kahlo is an impressive example of an artist whose entire life and creativity were extremely influenced by chronic, severe illness. Many of her best-known works depict her physical and mental suffering. She was one of those very uncommon artists who dared to show their nude, sick body. This article describes biographical events and works of Frida Kahlo that are closely related to neurology: congenital anomaly (spina bifida), poliomyelitis, spine injury, neuropathic pain.

Cervical spondylolysis in child with four levels of simultaneous involvement: a case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Gang Deuk; Kim, Hye Won; Jang, Sung Jo; Oh, Jung Taek [Wonkwang University School of Medicine, Gunsan (Korea, Republic of)

2006-12-15

Cervical spondylolysis is a rare condition, and less than 100 cases have been reported in the world literature. Cervical spondylolysis is defined as a well corticated defect in the posterior element of a cervical vertebra. Although the etiology of cervical spondylolysis is unknown, its association with dysplastic changes and spina bifida occulta suggest that the lesion is congenital. Here, we describe the radiographs and CT images of cervical spondylolysis involving four levels in a 9 year old boy.

Cervical spondylolysis in child with four levels of simultaneous involvement: a case report

International Nuclear Information System (INIS)

Kim, Gang Deuk; Kim, Hye Won; Jang, Sung Jo; Oh, Jung Taek

2006-01-01

Cervical spondylolysis is a rare condition, and less than 100 cases have been reported in the world literature. Cervical spondylolysis is defined as a well corticated defect in the posterior element of a cervical vertebra. Although the etiology of cervical spondylolysis is unknown, its association with dysplastic changes and spina bifida occulta suggest that the lesion is congenital. Here, we describe the radiographs and CT images of cervical spondylolysis involving four levels in a 9 year old boy

Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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How Do Health Care Providers Diagnose Spina Bifida?

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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Surgery on Fetus Reduces Complications of Spina Bifida

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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Science.gov (United States)

Ishida, M; Cullup, T; Boustred, C; James, C; Docker, J; English, C; Lench, N; Copp, A J; Moore, G E; Greene, N D E; Stanier, P

2018-04-01

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in-house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop-gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Effects of electrotherapy in treatment of neurogenic bladder in children with occult spinal dysraphism

Directory of Open Access Journals (Sweden)

Ćirović Dragana

2009-01-01

Full Text Available Introduction Neurogenic bladder can develop as a result of various degrees of neurogenic lesion in spina bifida. The degree of bladder dysfunction depends on the level and type of spina bifida. Due to results upon complete diagnostic protocols, treatment options are applied. Objective Comparison of therapy results of patients with occult spinal dysraphism with neurogenic bladder that under-went medicamentous therapy and medicamentous with electrotherapy treatment. Methods We had 49 patients with neurogenic bladder that were treated at the University Children's Hospital in Belgrade in the period 2003-2008. The first group of children received medicamentous therapy and the second group received medicamentous therapy with transcutaneous electric nerve stimulation. In both groups we evaluated 4 symptoms: daily enuresis, enuresis nocturna, urgency and frequency and 4 urodynamic parameters: lower bladder capacity, unstable contractions and residual urine and detrusor sphincter dyssynergia. Follow-up urodynamic evaluation was done after 3, 6 and 12 months respectively. Results Our findings pointed out a high statistical significance of improvement in all evaluated urodynamic parameters of neurogenic bladder (predominantly in bladder capacity in the group of children with combined therapy as well in resolution of symptoms (predominantly enuresis nocturna, urgency and frequency. Conclusion Combined therapy is more efficient in treatment of children with neurogenic bladder. Electrotherapy is non-invasive, easily applicable and has had a significant place in treatment of children with dysfunctional voiding.

Neural tube defects in the Republic of Ireland in 2009-11.

LENUS (Irish Health Repository)

McDonnell, R

2014-03-18

Neural tube defects (NTDs) are associated with deficient maternal folic acid peri-conceptionally. In Ireland, there is no mandatory folic acid food fortification, partly due to declining NTD rates in recent years. The aim of this study was to ascertain the incident rate of NTD during the period 2009-11 and describe epidemiologically NTD in Ireland.METHODSCases were ascertained through multiple sources, including three regional congenital anomaly registers, all maternity hospitals nationally and paediatric hospitals providing care for children with spina bifida in the Republic of Ireland during the period 2009-11.RESULTSFrom 225 998 total births, 236 NTDs were identified, giving an incidence of 1.04\\/1 000 births, increasing from 0.92\\/1 000 in 2009 to 1.17\\/1 000 in 2011. Of all cases, 45% (n = 106) had anencephaly, 49% (n = 115) had spina bifida and 6% (n = 15) had an encephalocoele; 78% (n = 184) were liveborn or stillborn and 22% (n = 52) were terminations abroad. Peri-conceptional folic acid supplement intake was 13.7% among the 52.5% (n = 124) of cases whose folic acid supplement intake was known.CONCLUSIONThe incidence of NTDs in the Republic of Ireland appears to be increasing. Renewed public health interventions, including mandatory folic acid food fortification, must be considered to reduce the incidence of NTD.

Congenital double-level cervical spondylolysis: a case report and review of the literature.

Science.gov (United States)

Yamamoto, Norio; Miki, Takaaki; Nasu, Yoshihisa; Nishiyama, Akihiro; Dan'ura, Tomoyuki; Matsui, Yuzuru; Ozaki, Toshifumi

2017-05-01

We report a rare Japanese female who was affected with three genetic-linked diseases: double-level cervical bilateral spondylolysis in association with spina bifida occulta, cleft lip and monostotic fibrous dysplasia of the right proximal femur. The case was considered to be congenital in origin. We also review the pertinent literature of cervical spondylolysis, with a focus on the pathogenesis of multiple-level cervical spondylolysis. A 40-year-old female presented with progressive clumsiness and numbness of the hands. Japanese Orthopedic Association (JOA) score for the cervical spine was 14.5. Plain radiographs of the cervical spine showed bilateral spondylolysis of the articular mass portion, with an adjacent dysplastic change and spina bifida occulta of C4 and C5. Cervical laminoplasty from C4 to C6 was performed. The postoperative course was uneventful, and the patient had some recovery of muscle power and sensation, with JOA score improving to 15.5. At the 8-year follow-up, the patient had no recurrence of symptoms, but did show kyphotic and degenerative changes at the C4/5 and C5/6 level with no apparent instability. This case is a rare presentation of bilateral cervical spondylolysis involving C4 and C5, presumably congenital, accompanied by combined dysplastic changes of the cervical spine, cleft lip, and fibrous dysplasia, possibly through an error involving an ossification center during the embryonic stage.

[Giant prostatic calculus with neurogenic bladder disease and prostate diverticulum: a case report and review of the literature].

Science.gov (United States)

Li, Xiao-Shi; Quan, Chang-Yi; Li, Gang; Cai, Qi-Liang; Hu, Bin; Wang, Jiu-Wei; Niu, Yuan-Jie

2013-02-01

To study the etiology, clinical manifestation, diagnosis and treatment of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum. We retrospectively analyzed the clinical data of a case of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum and reviewed the relevant literature. The patient was a 37-year-old man, with urinary incontinence for 22 years and intermittent dysuria with frequent micturition for 9 years, aggravated in the past 3 months. He had received surgery for spina bifida and giant vesico-prostatic calculus. The results of preoperative routine urinary examination were as follows: WBC 17 -20/HPF, RBC 12 - 15/HPF. KUB, IVU and pelvic CT revealed spina bifida occulta, neurogenic bladder and giant prostatic calculus. The patient underwent TURP and transurethral lithotripsy with holmium-YAG laser. The prostatic calculus was carbonate apatite in composition. Urinary dynamic images at 2 weeks after surgery exhibited significant improvement in the highest urine flow rate and residual urine volume. Seventeen months of postoperative follow-up showed dramatically improved urinary incontinence and thicker urine stream. Prostate diverticulum with prostatic giant calculus is very rare, and neurogenic bladder may play a role in its etiology. Cystoscopy is an accurate screening method for its diagnosis. For the young patients and those who wish to retain sexual function, TURP combined with holmium laser lithotripsy can be employed, and intraoperative rectal examination should be taken to ensure complete removal of calculi.

Frida Kahlo's neurological deficits and her art.

Science.gov (United States)

Budrys, Valmantas

2013-01-01

World-famous Mexican painter Frida Kahlo is an impressive example of a professional artist whose artistic subject matter was extremely influenced by her chronic, severe illness. Many of her best-known works depict her physical and mental suffering. She was one of those very uncommon artists who dared to show their nude, sick body. This chapter describes and explains the biographical events and works of Frida Kahlo that are closely related to neurology: congenital anomaly (spina bifida), poliomyelitis, spine injury, and neuropathic pain. © 2013 Elsevier B.V. All rights reserved.

Reducing risk of pressure sores: effects of watch prompts and alarm avoidance on wheelchair push-ups.

Science.gov (United States)

White, G W; Mathews, R M; Fawcett, S B

1989-01-01

People who use wheelchairs are at risk for developing pressure sores. Regular pressure relief, in the form of a wheelchair push-up, is one way to reduce the likelihood of pressure sores. We examined the effects of antecedent (i.e., instructions, audible prompts) and consequent (i.e., alarm avoidance) events on wheelchair push-ups, using a multiple baseline analysis with 2 participants with spina bifida. Results suggest that the combined procedure was more effective than either antecedent or consequent events alone, and there is some evidence suggesting maintenance of effects over time. PMID:2793635

A tale of two tails: Not just skin deep

Directory of Open Access Journals (Sweden)

Abhijit Dutta

2015-01-01

Full Text Available The dorsal cutaneous appendage or the so called human tail is a rare congenital anomaly protruding from the lumbo-sacro-coccygeal area. These caudal appendages are divided into true-tails and pseudo-tails. We report here two cases of congenital pseudo-tail with underlying spina bifida and lipo-meningocele. In this article we seek to emphasize that, as the skin and nervous systems are intimately linked by their similar ectodermal origin, a dorsal appendage may be regarded as a cutaneous marker of the underlying spinal dysraphism.

Prevalence of neural tube defect and hydrocephalus in Northern ...

African Journals Online (AJOL)

All the cases reported in this study were open neural tube defect (NTD). The most common defect was hydrocephalus occurring in 33 patients representing 57.9%, with spinal bifida occurring in 21 patients representing 38.6%. Encephalocele or cranium bifida occurred in only 5.3% (3 patients). Among the spinal bifida cases ...

Central Nervous System Birth Defects in Surgically Treated Infants in Sarajevo Region of Bosnia and Herzegovina

Directory of Open Access Journals (Sweden)

Selma Aličelebić

2007-11-01

Full Text Available Congenital anomalies of the central nervous system (CNS are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4% were female patients, while 47 (46,6% were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%, congenital hydrocephalus (35 cases or 33,98%, arachnoid cyst (15 cases or 14,56%, Dandy-Walker syndrome (5 cases or 4,85%, dermoid cyst (4 cases or 3,88%, one of Arnold-Chiari syndrome (0,98% and one of encefalocele (0,98%. According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%. The most frequent types were spina bifida (40,78% both in females (22,33% and in males (18,45%, hydrocephalus (33,98% and arachnoid cyst (14,56%. The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%, equal in both sexes.

Successful endoscopic third ventriculostomy in children depends on age and etiology of hydrocephalus: outcome analysis in 51 pediatric patients.

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Duru, Soner; Peiro, Jose L; Oria, Marc; Aydin, Emrah; Subasi, Canan; Tuncer, Cengiz; Rekate, Harold L

2018-04-25

Endoscopic third ventriculostomy (ETV) has become the method of choice in the treatment of hydrocephalus. Age and etiology could determine success rates (SR) of ETV. The purpose of this study is to assess these factors in pediatric population. Retrospective study on 51 children with obstructive hydrocephalus that underwent ETV was performed. The patients were divided into three groups per their age at the time of the treatment:  24 months of age. All ETV procedures were performed by the same neurosurgeon. Overall SR of ETV was 80% (40/51) for all etiologies and ages. In patients age SR was 56.2% (9/16), while 6-24 months of age was 88.9% (16/18) and > 24 months was 94.1% (16/17) (p = 0.012). The highest SR was obtained on aqueductal stenosis. SR of posthemorrhagic, postinfectious, and spina bifida related hydrocephalus was 60% (3/5), 50% (1/2), and 14.3% (1/7), respectively. While SR rate at the first ETV attempt was 85.3%, it was 76.9% in patients with V-P shunt performed previously (p = 0.000). Factors indicating a potential failure of ETV were young age and etiology such as spina bifida, other than isolated aqueductal stenosis. ETV is the method of choice even in patients with former shunting. Fast healing, distensible skulls, and lower pressure gradient in younger children, all can play a role in ETV failure. Based on our experience, ETV could be the first method of choice for hydrocephalus even in children younger than 6 months of age.

Neural tube defects – disorders of neurulation and related embryonic processes

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Copp, Andrew J.; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting 1 in every 1000 pregnancies. ‘Open’ NTDs result from failure of primary neurulation as seen in anencephaly, myelomeningocele (open spina bifida) and craniorachischisis. Degeneration of the persistently open neural tube in utero leads to loss of neurological function below the lesion level. ‘Closed’ NTDs are skin-covered disorders of spinal cord structure, ranging from asymptomatic spina bifida occulta to severe spinal cord tethering, and usually traceable to disruption of secondary neurulation. ‘Herniation’ NTDs are those in which meninges, with or without brain or spinal cord tissue, become exteriorised through a pathological opening in the skull or vertebral column (e.g. encephalocele and meningocele). NTDs have multifactorial etiology, with genes and environmental factors interacting to determine individual risk of malformation. While over 200 mutant genes cause open NTDs in mice, much less is known about the genetic causation of human NTDs. Recent evidence has implicated genes of the planar cell polarity signalling pathway in a proportion of cases. The embryonic development of NTDs is complex, with diverse cellular and molecular mechanisms operating at different levels of the body axis. Molecular regulatory events include the BMP and Sonic hedgehog pathways which have been implicated in control of neural plate bending. Primary prevention of NTDs has been implemented clinically following the demonstration that folic acid, when taken as a peri-conceptional supplement, can prevent many cases. Not all NTDs respond to folic acid, however, and adjunct therapies are required for prevention of this folic acid-resistant category. PMID:24009034

Cephalad-renal ectopia: Bilateral subdiaphragmatic kidneys in a patient of omphalocele with ventral hernia

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Jitendra Parmar

2016-04-01

Full Text Available Renal ectopia is a rare congenital anomaly. Thoracic ectopic kidney was being considered as rarest, however no case of bilateral subdiaphragmatic kidneys in omphalocele patients presented with ventral hernia has been reported yet, as per our best of knowledge. This is a report of a 5- year-old male patient who presented with ventral hernia after omphalocele. A thorough examination, laboratory, and radiological investigations including ultrasonography, plain abdominal x-ray, intravenous urogram, and computerized tomography revealed bilateral subdiaphragmatic ectopic kidneys with azygos continuation of inferior vena cava, retro-aortic left renal vein and spina bifida

4. Managing Children with Spina Bifida in sub-Saharan Africa

African Journals Online (AJOL)

Esem

taboos, religious beliefs, paucity of medical power. 1-5 ... interventions of rehabilitation for children with SB especially in Africa, some ... checked for and the central nervous system (CNS) ..... Thesis,. University of Zambia. 33. Sacko O, Boetto S, Lauwers-Cances V, Dupuy. M, Roux ... Nichols DS, Case-Smith J. Reliability and.

Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.

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Tully, Hannah M; Kukull, Walter A; Mueller, Beth A

2016-06-01

Children with hydrocephalus are at risk for epilepsy both due to their underlying condition and as a consequence of surgical treatment; however, the relative contributions of these factors remain unknown. The authors sought to characterize epilepsy among children with infancy-onset hydrocephalus and to examine the risks of epilepsy associated with hydrocephalus subtype and with factors related to surgical treatment. We conducted a longitudinal cohort study of all children with infancy-onset hydrocephalus treated at a major regional children's hospital during 2002 to 2012, with follow-up to ascertain risk factors and epilepsy outcome through April 2015. Poisson regression was used to calculate adjusted risk ratios and 95% confidence intervals for associations. Among 379 children with hydrocephalus, 86 (23%) developed epilepsy (mean onset age = 2.7 years), almost one fifth of whom had a history of infantile spasms. Relative to spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes had fourfold higher risks of developing epilepsy. Among children who underwent surgery, surgical infection doubled the risk of epilepsy (risk ratio = 2.0, 95% confidence interval = 1.4 to 3.0). Epilepsy was associated with surgical failure for intracranial reasons but not extracranial reasons (risk ratio = 1.7, 95% confidence interval = 1.1 to 2.7; risk ratio = 1.1, 95% confidence interval = 0.7 to 1.9, respectively). Epilepsy is common among children with hydrocephalus. Compared with children with spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes have a markedly increased risk of epilepsy. Surgical infection doubles the risk of epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

Weight-based nutritional diagnosis of Mexican children and adolescents with neuromotor disabilities.

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Vega-Sanchez, Rodrigo; de la Luz Gomez-Aguilar, Maria; Haua, Karime; Rozada, Guadalupe

2012-07-04

Nutrition related problems are increasing worldwide but they have scarcely been evaluated in people with neuromotor disabilities, particularly in developing countries. In this study our aim was to describe the weight-based nutritional diagnoses of children and adolescents with neuromotor disabilities who attended a private rehabilitation center in Mexico City. Data from the first visit's clinical records of 410 patients who attended the Nutrition department at the Teleton Center for Children Rehabilitation, between 1999 and 2008, were analyzed. Sex, age, weight and height, length or segmental length data were collected and used to obtain the nutritional diagnosis based on international growth charts, as well as disability-specific charts. Weight for height was considered the main indicator. Cerebral palsy was the most frequent diagnosis, followed by spina bifida, muscular dystrophy, and Down's syndrome. Children with cerebral palsy showed a higher risk of presenting low weight/undernutrition (LW/UN) than children with other disabilities, which was three times higher in females. In contrast, children with spina bifida, particularly males, were more likely to be overweight/obese (OW/OB), especially after the age of 6 and even more after 11. Patients with muscular dystrophy showed a significantly lower risk of LW/UN than patients with other disabilities. In patients with Down's syndrome neither LW/UN nor OW/OB were different between age and sex. This is the first study that provides evidence of the nutritional situation of children and adolescents with neuromotor disabilities in Mexico, based on their weight status. Low weight and obesity affect a large number of these patients due to their disability, age and sex. Early nutritional diagnosis must be considered an essential component in the treatment of these patients to prevent obesity and malnutrition, and improve their quality of life.

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

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K Rebekah, Prasoona; Tella, Sunitha; Buragadda, Srinadh; Tiruvatturu, Muni Kumari; Akka, Jyothy

2017-07-17

Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches. A total of 924 subjects including 124 NTD case-parent trios (n = 124 × 3 = 372) and 184 healthy control-parent trios (n = 184 × 3 = 552) from Telangana State, South India were analyzed. DNA from umbilical cord tissues and parental blood samples were extracted, and genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis used were SPSS, parent-of-origin effect (POE) analysis. Case-control study design demonstrated fetuses with homozygous variant genotype (TT) to be at risk toward spina bifida subtype (p = 0.022). Among parents, fathers with TT genotype were associated with anencephaly (p = 0.018) and spina bifida subtypes (p = 0.027) in the offspring. Of interest, maternal-paternal-offspring genotype incompatibility revealed maternal CT genotype in combination with paternal TT genotype increased risk for NTDs in the fetus (CTxTT = TT; p = 0.021). Family-based parent-of-origin effect linkage analysis revealed significant maternal over-transmission of variant allele to NTD fetuses (p < 0.01). The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus. Birth Defects Research 109:1020-1029, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Risk factors, organ weight deviation and associated anomalies in neural tube defects: A prospective fetal and perinatal autopsy series

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Asaranti Kar

2015-01-01

Full Text Available Introduction: Neural tube defects (NTD are a group of serious birth defects occurring due to defective closure of neural tube during embryonic development. It comprises of anencephaly, encephalocele and spina bifida. We conducted this prospective fetal autopsy series to study the rate and distribution of NTD, analyze the reproductive factors and risk factors, note any associated anomalies and evaluate the organ weights and their deviation from normal. Materials and Methods: This was a prospective study done over a period of 6 years from August, 2007 to July, 2013. All cases of NTDs delivered as abortion, still born and live born were included. The reproductive and risk factors like age, parity, multiple births, previous miscarriage, obesity, diabetes mellitus, socioeconomic status and use of folic acid during pregnancy were collected.Autopsy was performed according to Virchow′s technique. Detail external and internal examination were carried out to detect any associated anomalies. Gross and microscopic examination of organs were done. Results: Out of 210 cases of fetal and perinatal autopsy done, 72 (34.28% had NTD constituting 49 cases of anencephaly, 16 spina bifida and 7 cases of encephalocele. The mothers in these cases predominantly were within 25-29 years (P = 0.02 and primy (P = 0.01. Female sex was more commonly affected than males (M:F = 25:47, P = 0.0005 There was no history of folate use in majority of cases. Organ weight deviations were >2 standard deviation low in most of the cases. Most common associated anomalies were adrenal hypoplasia and thymic hyperplasia. Conclusion: The authors have made an attempt to study NTD cases in respect to maternal reproductive and risk factors and their association with NTD along with the organ weight deviation and associated anomalies. This so far in our knowledge is an innovative study which was not found in literature even after extensive search.

Maternal bereavement in the antenathal period and Neural tube defect in the offspring

DEFF Research Database (Denmark)

Ingstrup, Katja Glejsted; Olsen, Jørn; Bech, Bodil Hammer

2013-01-01

Title: Maternal bereavement after death of a close relative and neural tube defect in the offspring Background: Neural tube defects are the second most common and often lethal congenital anomaly in the world leaving surviving children with life-long severe disabilities. A low intake of folic acid...... was seen (OR 1.61, 95% CI: 1.07; 2.41). Discussion: We only studied live born children but about 2/3 of children with spina bifida survive the birth or longer with corrective surgery. We did not adjust for folic acid, but a sub-analysis of approximately 85,000 mothers showed no difference in intake during...... all children born in Denmark from 1978-2008 and their mothers (n=1,734,190). In the time window of one year before pregnancy or during the first trimester of pregnancy 34,407 mothers were exposed to bereavement. Results: A total of 5,031 cases of neural tube defects were identified: 889 with spina...

Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: World Health Organization guidelines.

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Cordero, Amy M; Crider, Krista S; Rogers, Lisa M; Cannon, Michael J; Berry, R J

2015-04-24

Neural tube defects (NTDs) such as spina bifida, anencephaly, and encephalocele are serious birth defects of the brain and spine that occur during the first month of pregnancy when the neural tube fails to close completely. Randomized controlled trials and observational studies have shown that adequate daily consumption of folic acid before and during early pregnancy considerably reduces the risk for NTDs. The U.S. Public Health Service recommends that women capable of becoming pregnant consume 400 µg of folic acid daily for NTD prevention. Furthermore, fortification of staple foods (e.g., wheat flour) with folic acid has decreased folate-sensitive NTD prevalence in multiple settings and is a highly cost-effective intervention.

Iniencephaly: Radiological and pathological features of a series of three cases

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Panduranga Chikkannaiah

2014-01-01

Full Text Available Iniencephaly is a rare form of neural tube defect with an incidence of 0.1-10 in 10,000 pregnancies. It is characterized by the presence of occipital bone defects at foramen magnum, fixed retroflexion of head, spinal dysmorphism, and lordosis of cervicothoracic vertebrae. It is usually associated with central nervous system, gastrointestinal, and cardiovascular anomalies. We present radiological and autopsy findings in a series of 3 cases of iniencephaly (gestational ages 29.3, 23, and 24 weeks first fetus in addition showed omphalocele, pulmonary hypoplasia, two lobes in right lung, accessory spleen, atrial septal defect, bilateral clubfoot, ambiguous genitalia, and single umbilical artery. Second fetus was a classical case of iniencephaly apertus with spina bifida. Third fetus had colpocephaly and bifid spine.

The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable

DEFF Research Database (Denmark)

Illum, Niels Ove; Gradel, Kim Oren

2014-01-01

in children. Our study evaluated its internal validity and whether it could be used to generate a common disability variable across childhood neurological disorders and severities. METHODS: The 28-statement FTF questionnaire was completed by the parents of children with spina bifida, muscular disorders...... qualifier score was 3.06 (standard deviation 0.89, range 2.31-4.26), and the variances mean was 1.57 (range 0.87-2.38). The corrected code-total correlation was 0.65, and reliability was 0.96. The Rasch analysis demonstrated good fit alignment of codes. CONCLUSION: The FTF questionnaire can be used...... with children with neurological disabilities, and the Rasch scale analysis results indicate that it could form the analytical basis for developing a common disability variable....

Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version

DEFF Research Database (Denmark)

Illum, Niels Ove; Bonderup, Mette; Gradel, Kim Oren

2016-01-01

influences through interviews in their own homes. RESULTS: Of the 367 invited parents, 332 (90.5%) participated, providing data on children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairments, hearing impairments, mental disability and disabilities following......INTRODUCTION: The WHO has launched a common classification for disabilities in children, the International Classification of Functioning, Disability and Health, Child and Youth Version (ICF-CY). We wanted to determine whether cat-egories of the environmental (e) and the body functions (b......) components of the classification could address environmental needs in children with different disorders and various disability severities. METHODS: A set of 16 e categories and 47 b categories were selected and worded to best enable parents to describe children's everyday support needs and environmental...

Trends in Spina Bifida and Anencephalus in the United States, 1991-2006

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... Picciano MF, Rader JI, et al. Blood folate levels: The latest NHANES results. NCHS data brief, no 6. Hyattsville, MD: National Center for Health Statistics. 2008. Martin JA, Hamilton BE, Sutton PD, Ventura ...

On the sinus lumbosacralis, spina bifida occulta, and status dysraphicus in birds

NARCIS (Netherlands)

Jelgersma, H.C.

1951-01-01

The sinus rhomboidalis sacralis or sinus lumbosacralis as it is named by Ariens Kappers (1920) is an interesting anatomical part of the lumbosacral region of the avian spinal medulla. It is found in birds only and neither in reptiles nor in mammals. Fig. 1 shows the lumbosacral part of the spinal

Rate of shunt revision as a function of age in patients with shunted hydrocephalus due to myelomeningocele.

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Dupepe, Esther B; Hopson, Betsy; Johnston, James M; Rozzelle, Curtis J; Jerry Oakes, W; Blount, Jeffrey P; Rocque, Brandon G

2016-11-01

OBJECTIVE It is generally accepted that cerebrospinal fluid shunts fail most frequently in the first years of life. The purpose of this study was to describe the risk of shunt failure for a given patient age in a well-defined cohort with shunted hydrocephalus due to myelomeningocele (MMC). METHODS The authors analyzed data from their institutional spina bifida research database including all patients with MMC and shunted hydrocephalus. For the entire population, the number of shunt revisions in each year of life was determined. Then the number of patients at risk for shunt revision during each year of life was calculated, thus enabling them to calculate the rate of shunt revision per patient in each year of life. In this way, the timing of all shunt revision operations for the entire clinic population and the likelihood of having a shunt revision during each year of life were calculated. RESULTS A total of 655 patients were enrolled in the spina bifida research database, 519 of whom had a diagnosis of MMC and whose mean age was 17.48 ± 11.7 years (median 16 years, range 0-63 years). Four hundred seventeen patients had had a CSF shunt for the treatment of hydrocephalus and thus are included in this analysis. There were 94 shunt revisions in the 1st year of life, which represents a rate of 0.23 revisions per patient in that year. The rate of shunt revision per patient-year initially decreased as age increased, except for an increase in revision frequency in the early teen years. Shunt revisions continued to occur as late as 43 years of age. CONCLUSIONS These data substantiate the idea that shunt revision surgeries in patients with MMC are most common in the 1st year of life and decrease thereafter, except for an increase in the early teen years. A persistent risk of shunt failure was observed well into adult life. These findings underscore the importance of routine follow-up of all MMC patients with shunted hydrocephalus and will aid in counseling patients and

Lumbar Spondylolysis in Juveniles from the Same Family: A Report of Three Cases and a Review of the Literature

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Atsuhisa Yamada

2013-01-01

Full Text Available Spondylolysis is reported as a stress fracture of the pars interarticularis with a strong hereditary basis. Three cases of lumbar spondylolysis in juveniles from the same family are reported, and the genetics of the condition are reviewed. The first boy, a 13-year-old soccer player, was diagnosed with terminal stage L5 bilateral spondylolysis with grade 1 slippage. The second boy, a 10-year-old baseball player, had terminal stage right side unilateral spondylolysis. The third boy, also a 10-year-old baseball player, was diagnosed with early stage bilateral L5 spondylolysis. The second and third boys are identical twins, and all three cases exhibited concomitant spina bifida occulta. Lumbar spondylolysis has a strong hereditary basis and is reported to be an autosomal dominant condition.

Lumbar Spondylolysis in Juveniles from the Same Family: A Report of Three Cases and a Review of the Literature

Science.gov (United States)

Yamada, Atsuhisa; Sairyo, Koichi; Shibuya, Isao; Kato, Ko; Dezawa, Akira

2013-01-01

Spondylolysis is reported as a stress fracture of the pars interarticularis with a strong hereditary basis. Three cases of lumbar spondylolysis in juveniles from the same family are reported, and the genetics of the condition are reviewed. The first boy, a 13-year-old soccer player, was diagnosed with terminal stage L5 bilateral spondylolysis with grade 1 slippage. The second boy, a 10-year-old baseball player, had terminal stage right side unilateral spondylolysis. The third boy, also a 10-year-old baseball player, was diagnosed with early stage bilateral L5 spondylolysis. The second and third boys are identical twins, and all three cases exhibited concomitant spina bifida occulta. Lumbar spondylolysis has a strong hereditary basis and is reported to be an autosomal dominant condition. PMID:24191211

The Utrecht approach to exercise in chronic childhood conditions: the decade in review.

Science.gov (United States)

van Brussel, Marco; van der Net, Janjaap; Hulzebos, Erik; Helders, Paul J M; Takken, Tim

2011-01-01

To summarize and discuss current evidence and understanding of clinical pediatric exercise physiology focusing on the work the research group at Utrecht and others have performed in the last decade in a variety of chronic childhood conditions as a continuation of the legacy of Dr Bar-Or. The report discusses current research findings on the cardiopulmonary exercise performance of children (and adolescents) with juvenile idiopathic arthritis, osteogenesis imperfecta, achondroplasia, hemophilia, cerebral palsy, spina bifida, cystic fibrosis, and childhood cancer. Exercise recommendations and contraindications are provided for each condition. Implications for clinical practice and future research in this area are discussed for each of the chronic conditions presented. The authors provide a basic framework for developing an individual and/or disease-specific training program, introduce the physical activity pyramid, and recommend a core set of clinical measures to be used in clinical research.

Parents' Assessments of Disability in Their Children Using World Health Organization International Classification of Functioning, Disability and Health, Child and Youth Version Joined Body Functions and Activity Codes Related to Everyday Life

DEFF Research Database (Denmark)

Illum, Niels Ove; Gradel, Kim Oren

2017-01-01

: Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairment, hearing impairment, mental disability, or disability following brain tumours performed scoring for 26 body functions qualifiers (b codes) and activities and participation qualifiers......AIM: To help parents assess disability in their own children using World Health Organization (WHO) International Classification of Functioning, Disability and Health, Child and Youth Version (ICF-CY) code qualifier scoring and to assess the validity and reliability of the data sets obtained. METHOD...... of 1.01 and 1.00. The mean corresponding outfit MNSQ was 1.05 and 1.01. The ICF-CY code τ thresholds and category measures were continuous when assessed and reassessed by parents. Participating children had a mean of 56 codes scores (range: 26-130) before and a mean of 55.9 scores (range: 25-125) after...

Long term trends in prevalence of neural tube defects in Europe

DEFF Research Database (Denmark)

Khoshnood, Babak; Loane, Maria; Walle, Hermien de

2015-01-01

STUDY QUESTION: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy...... for mandatory folic acid fortification of food does not exist? METHODS: This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance......-conceptional folic acid supplementation and existence of voluntary folic acid fortification. FUNDING, COMPETING INTERESTS, DATA SHARING: The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct...

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression

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James J. Bresnahan

2016-01-01

Full Text Available Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder.

Einfluss des intermittierenden Katheterismus auf Harnwegsinfekte und Inkontinenz bei Kindern mit Spina bifida

NARCIS (Netherlands)

van Gool, J. D.; de Jong, T. P.; Boemers, T. M.

1991-01-01

Although the primary objective of clean intermittent (self) catheterization (CIC) was to regain continence in (older) children with myelomeningocele (MMC), we used the method also in the very young with detrusor-sphincter dyssynergia, to prevent future damage from the combined effects of obstruction

Amniotic fluid gamma-glutamyl transpeptidase activity during the second trimester.

Science.gov (United States)

Legge, M; Potter, H C

1986-03-12

Gamma glutamyl transpeptidase (GGTP) activity was determined in second trimester amniotic fluid taken from normal fetuses and those with fetal abnormalities. GGTP activity decreased with advancing gestation. Increasing meconium contamination correlated with an increase in GGTP activity as did increasing fetal blood contamination. Maternal blood did not affect GGTP activity. Anencephaly did not significantly alter the GGTP activity, however, fetuses with spina bifida had significantly lower activity. Klinefelters and Turners syndromes both had GGTP activity close to the 50th percentile, and two trisomy 21 fetuses had GGTP activity below the 40th percentile. Two trisomy 18 fetuses and two translocation Downs syndromes (46 XY, t (14;21) had GGTP activities considerably lower than the 20th percentile as did a fetus with gastroschisis. Second trimester amniotic fluid GGTP activity may provide an easy preliminary test to screen amniotic fluids for the possibility of certain fetal chromosome abnormalities.

Associação de agenesia sacrococcígea e atresia anal em gato sem raça definida Sacrococcygeal agenesis association and anal atresia in mixed breed cats

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Felipe Purcell de Araújo

2009-09-01

Full Text Available O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

Body image of children and adolescents with chronic illness: a meta-analytic comparison with healthy peers.

Science.gov (United States)

Pinquart, M

2013-03-01

This meta-analysis integrates results from 330 studies on differences between body image of children and adolescents with and without chronic physical illness. Young people with a chronic illness had a less positive body image than their healthy peers although the average size of differences was small (g=-.30 standard deviation units). A comparison of diseases showed that young people with obesity (g=-.79), cystic fibrosis (g=-.50), scoliosis (g=-.41), asthma (g=-.37), growth hormone deficits (g=-.35), spina bifida (g=-.23), cancer (g=-.20), and diabetes (g=-.17) evaluated their body less positively than their healthy peers. Furthermore, levels of body dissatisfaction varied by age at onset of the disease, method for assessing body image, ethnicity, year of publication, and comparison group. Recommendations are stated for reducing effects of chronic illness on the body image of people with chronic illness. Copyright © 2012 Elsevier Ltd. All rights reserved.

Splenogonadal fusion with limb deficiency and micrognathia.

Science.gov (United States)

Moore, P J; Hawkins, E P; Galliani, C A; Guerry-Force, M L

1997-11-01

Splenogonadal fusion (SGF) is a rare abnormality with two known types. In the continuous type, the spleen is connected to the gonad, and there are often limb defects, micrognathia, or other congenital malformations such as ventricular septal defect, anal atresia, microgastria, spina bifida, craniosynostosis, thoracopagus, diaphragmatic hernia, hypoplastic lung and abnormal lung fissures, polymicrogyria, deficient coccyx, and bifid spine C6-T3. The discontinuous type is usually not associated with congenital defects, and the gonad that fused with an accessory spleen has no connection with the native spleen. The etiology of SGF is not known. Conceivably, a teratogenic insult occurring between 5 weeks' and 8 weeks' gestation could interfere with the normal development of the spleen, gonads, and limb buds. We describe a case of splenogonadal fusion in a stillborn black boy with associated micrognathia and limb deformities. Also, we review the possible teratogenic etiologies and embryonic basis of SGF.

A role for PDGF-C/PDGFRα signaling in the formation of the meningeal basement membranes surrounding the cerebral cortex

Science.gov (United States)

Andrae, Johanna; Gouveia, Leonor; Gallini, Radiosa; He, Liqun; Fredriksson, Linda; Nilsson, Ingrid; Johansson, Bengt R.; Eriksson, Ulf; Betsholtz, Christer

2016-01-01

ABSTRACT Platelet-derived growth factor-C (PDGF-C) is one of three known ligands for the tyrosine kinase receptor PDGFRα. Analysis of Pdgfc null mice has demonstrated roles for PDGF-C in palate closure and the formation of cerebral ventricles, but redundancy with other PDGFRα ligands might obscure additional functions. In search of further developmental roles for PDGF-C, we generated mice that were double mutants for Pdgfc−/− and PdgfraGFP/+. These mice display a range of severe phenotypes including spina bifida, lung emphysema, abnormal meninges and neuronal over-migration in the cerebral cortex. We focused our analysis on the central nervous system (CNS), where PDGF-C was identified as a critical factor for the formation of meninges and assembly of the glia limitans basement membrane. We also present expression data on Pdgfa, Pdgfc and Pdgfra in the cerebral cortex and microarray data on cerebral meninges. PMID:26988758

Unilateral hyperplasia of the left posterior arch and associated vertebral schisis at C6 level

Energy Technology Data Exchange (ETDEWEB)

Esposito, Giuseppe; Bonis, Pasquale de; Tamburrini, Gianpiero; Massimi, Luca; Rocco, Concezio di [Catholic University, School of Medicine, Department of Pediatric Neurosurgery, Rome (Italy); Byvaltsev, Vadim [Irkutsk Railway Clinical Hospital, Department of Neurosurgery, Irkutsk (Russian Federation); Leone, Antonio [Catholic University, School of Medicine, Department of Bioimaging and Radiological Sciences, Rome (Italy)

2009-12-15

We report on a 5-year-old girl with unilateral hyperplasia of the left posterior arch of C6 associated with spina bifida occulta at the same level. Anteroposterior and lateral radiographs of the cervical spine showed hypertrophy of the left lamina as well as overgrowth and elongation of the left spinous process of the sixth cervical vertebra. Computed tomography (CT) examination better depicted this congenital variant and clearly showed the associated schisis of the posterior arch at the same level. Magnetic resonance (MR) imaging examination ruled out other spinal anomalies. The neck pain, the young age of the patient and the local aesthetic abnormality contributed to the surgical indication. To the best of our knowledge, this is the first case in the English literature of unilateral hyperplasia of a posterior cervical arch. Only one previous study has reported a similar congenital anomaly, but it was limited to the left side of the spinous process. (orig.)

An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

Science.gov (United States)

Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

2014-01-01

Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.