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Sample records for bifida myelomeningocele sbm

  1. 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...

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

    Directory of Open Access Journals (Sweden)

    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.

  3. 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 ...

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

    Science.gov (United States)

    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.

  5. Spina Bifida. Fact Sheet = Espina Bifida. Hojas Informativas Sobre Discapacidades.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet offers definitions of the three types of spina bifida (spina bifida occulta, meningocele, and myelomeningocele), outlines their incidence, describes characteristics of individuals with spina bifida, and reviews educational implications. The fact sheet discusses the need for many children with myelomeningocele to learn to manage…

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

    Directory of Open Access Journals (Sweden)

    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.

  7. Spina Bifida Cystica

    African Journals Online (AJOL)

    andrew

    2012-01-20

    Jan 20, 2012 ... disability of the infant. The prevalence of Spina Bifida varies across time, region, race and ... Family history of Spina Bifida was present in 7.8%. Nearly all patients (98%) had myelomeningocele with a most ... Birth ranking was ascertained by history provided by the mother, miscarriages before 28 weeks.

  8. Spina Bifida: General Information. Fact Sheet Number 12 = La Espina Bifida: Informacion General. Fact Sheet Number 21.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on spina bifida is offered in both English and Spanish. It provides definitions of the three types of spina bifida (spina bifida occulta, meningocele, and myelomeningocele). Incidence figures are given as are typical characteristics of children with spina bifida. Educational implications are briefly noted, including the need to…

  9. Frequently Asked Questions about Spina Bifida

    Science.gov (United States)

    ... 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, ...

  10. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    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 ...

  13. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    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 ...

  14. Sleep-disordered breathing in patients with myelomeningocele.

    Science.gov (United States)

    Patel, Daxa M; Rocque, Brandon G; Hopson, Betsy; Arynchyna, Anastasia; Bishop, E Ralee'; Lozano, David; Blount, Jeffrey P

    2015-07-01

    OBJECT A paucity of literature examines sleep apnea in patients with myelomeningocele, Chiari malformation Type II (CM-II), and related hydrocephalus. Even less is known about the effect of hydrocephalus treatment or CM-II decompression on sleep hygiene. This study is an exploratory analysis of sleep-disordered breathing in patients with myelomeningocele and the effects of neurosurgical treatments, in particular CM-II decompression and hydrocephalus management, on sleep organization. METHODS The authors performed a retrospective review of all patients seen in their multidisciplinary spina bifida clinic (approximately 435 patients with myelomeningocele) to evaluate polysomnographs obtained between March 1999 and July 2013. They analyzed symptoms prompting evaluation, results, and recommended interventions by using descriptive statistics. They also conducted a subset analysis of 9 children who had undergone polysomnography both before and after neurosurgical intervention. RESULTS Fifty-two patients had polysomnographs available for review. Sleep apnea was diagnosed in 81% of these patients. The most common presenting symptom was "breathing difficulties" (18 cases [43%]). Mild sleep apnea was present in 26 cases (50%), moderate in 10 (19%), and severe in 6 (12%). Among the 42 patients with abnormal sleep architecture, 30 had predominantly obstructive apneas and 12 had predominantly central apneas. The most common pulmonology-recommended intervention was adjustment of peripheral oxygen supplementation (24 cases [57%]), followed by initiation of peripheral oxygen (10 cases [24%]). In a subset analysis of 9 patients who had sleep studies before and after neurosurgical intervention, there was a trend toward a decrease in the mean number of respiratory events (from 34.8 to 15.9, p = 0.098), obstructive events (from 14.7 to 13.9, p = 0.85), and central events (from 20.1 to 2.25, p = 0.15) and in the apnea-hypopnea index (from 5.05 to 2.03, p = 0.038, not significant when

  15. Chorioamniotic membrane separation and preterm premature rupture of membranes complicating in utero myelomeningocele repair.

    Science.gov (United States)

    Soni, Shelly; Moldenhauer, Julie S; Spinner, Susan S; Rendon, Norma; Khalek, Nahla; Martinez-Poyer, Juan; Johnson, Mark P; Adzick, N Scott

    2016-05-01

    Since the results of the Management of Myelomeningocele Study were published, maternal-fetal surgery for the in utero treatment of spina bifida has become accepted as a standard of care alternative. Despite promise with fetal management of myelomeningocele repair, there are significant complications to consider. Chorioamniotic membrane separation and preterm premature rupture of membranes are known complications of invasive fetal procedures. Despite their relative frequency associated with fetal procedures, few data exist regarding risk factors that may be attributed to their occurrence or the natural history of pregnancies that are affected with chorionic membrane separation or preterm premature rupture of membranes related to the procedure. The objective of this study was to review chorioamniotic membrane separation and preterm premature rupture of membranes in a cohort of patients undergoing fetal management of myelomeningocele repair including identification of risk factors and outcomes. This was a retrospective review of patients undergoing fetal management of myelomeningocele repair and subsequent delivery from January 2011 through December 2013 at 1 institution. Patients were identified through the institutional fetal management of myelomeningocele repair database and chart review was performed. Perioperative factors and outcomes among patients with chorioamniotic membrane separation and preterm premature rupture of membranes were compared to those without. Risk factors associated with the development of chorioamniotic membrane separation and preterm premature rupture of membranes were determined. A total of 88 patients underwent fetal management of myelomeningocele repair and subsequently delivered during the study period. In all, 21 patients (23.9%) were diagnosed with chorioamniotic membrane separation by ultrasound and preterm premature rupture of membranes occurred in 27 (30.7%). Among the chorioamniotic membrane separation patients, 10 (47.6%) were

  16. Waardenburg syndrome and myelomeningocele in a family.

    Science.gov (United States)

    Chatkupt, S; Chatkupt, S; Johnson, W G

    1993-01-01

    We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1. Images PMID:8423616

  17. Waardenburg syndrome and myelomeningocele in a family.

    OpenAIRE

    Chatkupt, S; Chatkupt, S; Johnson, W G

    1993-01-01

    We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.

  18. The orthopaedic management of myelomeningocele | Horn | South ...

    African Journals Online (AJOL)

    The orthopaedic management of myelomeningocele. A Horn, S Dix-Peek, S Mears, EB Hoffman. Abstract. Despite improvement in antenatal care and screening, myelomeningocele remains the most common congenital birth defect, with a reported incidence of 1 - 2.5/1000 patients in the Western Cape, South Africa.

  19. Isolation, characterization, and differentiation of multipotent neural progenitor cells from human cerebrospinal fluid in fetal cystic myelomeningocele

    Directory of Open Access Journals (Sweden)

    Mario Marotta

    2017-07-01

    Full Text Available Despite benefits of prenatal in utero repair of myelomeningocele, a severe type of spina bifida aperta, many of these patients will still suffer mild to severe impairment. One potential source of stem cells for new regenerative medicine-based therapeutic approaches for spinal cord injury repair is neural progenitor cells (NPCs in cerebrospinal fluid (CSF. To this aim, we extracted CSF from the cyst surrounding the exposed neural placode during the surgical repair of myelomeningocele in 6 fetuses (20 to 26 weeks of gestation. In primary cultured CSF-derived cells, neurogenic properties were confirmed by in vitro differentiation into various neural lineage cell types, and NPC markers expression (TBR2, CD15, SOX2 were detected by immunofluorescence and RT-PCR analysis. Differentiation into three neural lineages was corroborated by arbitrary differentiation (depletion of growths factors or explicit differentiation as neuronal, astrocyte, or oligodendrocyte cell types using specific induction mediums. Differentiated cells showed the specific expression of neural differentiation markers (βIII-tubulin, GFAP, CNPase, oligo-O1. In myelomeningocele patients, CSF-derived cells could become a potential source of NPCs with neurogenic capacity. Our findings support the development of innovative stem-cell-based therapeutics by autologous transplantation of CSF-derived NPCs in damaged spinal cords, such as myelomeningocele, thus promoting neural tissue regeneration in fetuses.

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

    Directory of Open Access Journals (Sweden)

    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

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

    Science.gov (United States)

    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

  2. Spina Bifida Data and Statistics

    Science.gov (United States)

    ... Us Information For… Media Policy Makers Data and Statistics Recommend on Facebook Tweet Share Compartir Spina bifida ... the spine. Read below for the latest national statistics on spina bifida in the United States. In ...

  3. Myelomeningocele

    Science.gov (United States)

    ... to cover the spinal cord, spinal nerves, and meninges (the tissues covering the spinal cord). The developing ... an incomplete spinal canal. The spinal cord and meninges (the tissues covering the spinal cord) protrude from ...

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  6. Derangement of swallowing in children with myelomeningocele

    International Nuclear Information System (INIS)

    Fernbach, S.K.; McLone, D.G.

    1985-01-01

    Barium esophagrams performed in 13 children with myelomeningocele demonstrated a variety of swallowing disorders: difficulty in bolus formation, nasopharyngeal reflux, tracheobronchial aspiration. Cricopharyngeal spasm was not identified in this group. Antegrade peristalsis in the distal two-thirds of the esophagus was normal. Gastroesophageal reflux was demonstrated in 8 of the children. Vocal cord paralysis (8/13) and death in early child-hood (6/13) occurred with greater frequency than in the general myelomeningocele population. Correct management of these children may require tracheostomy, gastrostomy, and fundoplication. (orig.)

  7. Radiologic evaluation of the myelomeningocele patient

    International Nuclear Information System (INIS)

    Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

    1988-01-01

    The only radiologic procedure that is useful in the newborn with a fresh myelomeningocele is US or CT of the head to evaluate ventricular size. The imaging procedures become extremely important in the evaluation of the postoperative patient with myelomeningocele. US and/or CT is used to evaluate for hydrocephalus. MR is used to evaluate the spinal axis to determine the position of the cervicomedullary kink, hydromyelia, arachnoid cyst, inclusion epidermoids, and tethering of the spinal cord. US and myelography with CT are needed in subtle cases of tethering, diastematomyelia, arachnoid cyst, and severe scoliosis

  8. Derangement of swallowing in children with myelomeningocele

    Energy Technology Data Exchange (ETDEWEB)

    Fernbach, S.K.; McLone, D.G.

    1985-07-01

    Barium esophagrams performed in 13 children with myelomeningocele demonstrated a variety of swallowing disorders: difficulty in bolus formation, nasopharyngeal reflux, tracheobronchial aspiration. Cricopharyngeal spasm was not identified in this group. Antegrade peristalsis in the distal two-thirds of the esophagus was normal. Gastroesophageal reflux was demonstrated in 8 of the children. Vocal cord paralysis (8/13) and death in early child-hood (6/13) occurred with greater frequency than in the general myelomeningocele population. Correct management of these children may require tracheostomy, gastrostomy, and fundoplication.

  9. Bladder-sphincter dysfunction in myelomeningocele

    NARCIS (Netherlands)

    van Gool, J. D.; Dik, P.; de Jong, T. P.

    2001-01-01

    Pediatric urodynamics taught us that detrusor-sphincter dyssynergia creates a bladder outlet obstruction in about 50% of any population of children with myelomeningocele. This functional obstruction causes renal damage due to obstructive uropathy, exactly the same way as a congenital anatomical

  10. Spina Bifida Clinic Directory

    Science.gov (United States)

    ... 7th Avenue S. Birmingham, AL 35233 (205) 939-5281 https://www.childrensal.org/SpinaBifidaProgram UAB Spain Rehab Adult ... Ave S Birmingham, AL 35249 Phone: (205) 934-4131 http://www.uabmedicine.org/locations/spain-rehabilitation-center Children’s ...

  11. One Step at a Time: SBM as an Incremental Process.

    Science.gov (United States)

    Conrad, Mark

    1995-01-01

    Discusses incremental SBM budgeting and answers questions regarding resource equity, bookkeeping requirements, accountability, decision-making processes, and purchasing. Approaching site-based management as an incremental process recognizes that every school system engages in some level of site-based decisions. Implementation can be gradual and…

  12. Spina bifida and sexuality

    DEFF Research Database (Denmark)

    von Linstow, Michael Ernst; Biering-Sørensen, Ida; Liebach, Annette

    2014-01-01

    , neurological examination, personal interview, Functional Independence Measure (FIMTM), Medical Outcome Study Short Form 36 (SF-36) on quality of life, and questions on sexual function and related topics. Study cohort: Fifty-three participants (27 women, 26 men) with spina bifida (mean age 27.1, range 18......OBJECTIVE: To evaluate sexual function amongst adult individuals with spina bifida and to register their subjective satisfaction with their sexual life and relationships. SETTING: Department for Spinal Cord Injuries, East Denmark. STUDY DESIGN AND METHODS: Cohort study. Medical record information......-35) years. Response rate 74%. RESULTS: Fifty-one percent of subjects regarded their sexual life as a failure or dysfunctional. However, 45% reported being satisfied with their sexual life. Participants with partners were more satisfied with their sexual life than those without partners. Faecal...

  13. Spina bifida and parental occupation

    NARCIS (Netherlands)

    Blatter, B.M.

    1997-01-01

    The aims of this thesis were: (1) to identify parental occupations with an increased risk of spina bifida in offspring; (2) to study whether parental occupational exposure to chemicals or radiation during or shortly before pregnancy is a risk factor for the occurrence of spina bifida. In order to

  14. Impact on family and parental stress of prenatal vs postnatal repair of myelomeningocele.

    Science.gov (United States)

    Antiel, Ryan M; Adzick, N Scott; Thom, Elizabeth A; Burrows, Pamela K; Farmer, Diana L; Brock, John W; Howell, Lori J; Farrell, Jody A; Houtrow, Amy J

    2016-10-01

    The Management of Myelomeningocele Study was a multicenter, randomized controlled trial that compared prenatal repair with standard postnatal repair for fetal myelomeningocele. We sought to describe the long-term impact on the families of the women who participated and to evaluate how the timing of repair influenced the impact on families and parental stress. Randomized women completed the 24-item Impact on Family Scale and the 36-item Parenting Stress Index Short Form at 12 and 30 months after delivery. A revised 15-item Impact on Family Scale describing overall impact was also computed. Higher scores reflected more negative impacts or greater stress. In addition, we examined Family Support Scale and Family Resource Scale scores along with various neonatal outcomes. Repeated measures analysis was conducted for each scale and subscale. Of 183 women randomized, 171 women completed the Impact on Family Scale and 172 completed the Parenting Stress Index at both 12 and 30 months. The prenatal surgery group had significantly lower revised 15-item Impact on Family Scale scores as well as familial-social impact subscale scores compared to the postnatal surgery group (P = .02 and .004, respectively). There was no difference in total parental stress between the 2 groups (P = .89) or in any of the Parenting Stress Index Short Form subscales. In addition, walking independently at 30 months and family resources at 12 months were associated with both family impact and parental stress. The overall negative family impact of caring for a child with spina bifida, up to 30 months of age, was significantly lower in the prenatal surgery group compared to the postnatal surgery group. Ambulation status and family resources were predictive of impact on family and parental stress. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Impact on Family and Parental Stress of Prenatal versus Postnatal Repair of Myelomeningocele

    Science.gov (United States)

    Antiel, Ryan M.; Adzick, N. Scott; Thom, Elizabeth A.; Burrows, Pamela K.; Farmer, Diana L.; Brock, John W.; Howell, Lori J.; Farrell, Jody A.; Houtrow, Amy J.

    2016-01-01

    BACKGROUND The Management of Myelomeningocele Study (MOMS) was a multicenter, randomized controlled trial that compared prenatal repair with standard postnatal repair for fetal myelomeningocele. OBJECTIVE We sought to describe the long-term impact on the families of the women who participated and to evaluate how the timing of repair influenced the impact on families and parental stress. STUDY DESIGN Randomized women completed the 24-item Impact on Family Scale (IFS) and the 36-item Parenting Stress Index Short Form (PSI-SF) at 12 and 30 months after delivery. A revised 15-item score of the IFS (RIFS) describing overall impact was also computed. Higher scores reflect more negative impacts or greater stress. In addition, we examined Family Support Scale (FSS) and Family Resource Scale (FRS) scores along with various neonatal outcomes. Repeated measures analysis was conducted for each scale and subscale. RESULTS Of 183 women randomized, 171 women completed the IFS and 172 completed the PSI at both 12 and 30 months. The prenatal surgery group had significantly lower RIFS scores as well as familial-social impact subscale scores compared to the postnatal surgery group (p=0.02 and 0.004, respectively). There was no difference in total parental stress between the two groups (p=0.89) or in any of the PSI-SF subscales. In addition, walking independently at 30 months and family resources at 12 months are associated with both family impact and parental stress. CONCLUSION The overall negative family impact of caring for a child with spina bifida, up to 30 months of age, was significantly lower in the prenatal surgery group compared to the postnatal surgery group. Ambulation status and family resources were predictive of impact on family and parental stress. PMID:27263997

  16. A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia.

    Science.gov (United States)

    Ito, Ai; Fujinaga, Hideshi; Matsui, Sachiko; Tago, Kumiko; Iwasaki, Yuka; Fujino, Shuhei; Nagasawa, Junko; Amari, Shoichiro; Kaneshige, Masao; Wada, Yuka; Takahashi, Shigehiro; Tsukamoto, Keiko; Miyazaki, Osamu; Yoshioka, Takako; Ishiguro, Akira; Ito, Yushi

    2017-10-01

    Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion  We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

  17. Surgical results of strabismus correction in patients with myelomeningocele

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-02-01

    Full Text Available Purpose: Myelomeningocele is one of the most common birth defects. It is associated with severe neurological deficiencies, and ocular changes, such as strabismus, are very common. The purpose of this study was to describe indications for strabismus surgery in patients with myelomeningocele and to evaluate the results achieved with surgical correction. Methods: We retrospectively reviewed records of all patients with myelomeningocele who underwent surgery for strabismus correction in a 5-year period in an institution for disabled children. Results: The main indications for strabismus surgery were esotropia and A-pattern anisotropia. Excellent surgical results were achieved in 60.9% of patients, satisfactory in 12.2%, and unsatisfactory in 26.9%. Conclusion: Patients with myelomeningocele and strabismus had a high incidence of esotropia and A-pattern anisotropia. Strabismus surgery in these patients had an elevated percentage of excellent and satisfactory results, not only for the ocular deviation, but also for improvement of head posture.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  1. Virtual socialization in adults with spina bifida.

    Science.gov (United States)

    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

  2. The impact of SBM model on improvement of Israeli education system

    Directory of Open Access Journals (Sweden)

    Ayed LEVNAWI

    2017-03-01

    Full Text Available The present article comes to cover some gaps in the research literature, which focuses on the Arab Minority in Israel, the sector which suffers from discrimination in all aspects of life and hasn’t been researched enough. Due to this fact there is no clear picture about the evaluation of Israeli SBM reforms; because there are conflict findings and mixed results related to the international SBM, while many studies support, other criticize self-management. In addition, the Israeli SBM model, which was introduced just a few years ago in order to improve student achievement, has the largest gaps in student achievement in all the OECD countries. All the above mentioned elements cause more lack of clarity related to the SBM reform and its recent and future role to assess and empower the educational process. For this lack of clarity, this study will explore more facts and more evaluation of the SBM reform.

  3. Congenital high airway obstruction syndrome (CHAOS) associated with cervical myelomeningocele.

    Science.gov (United States)

    Adin, Mehmet Emin

    2017-10-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare and potentially fatal entity resulting from complete or near complete developmental airway obstruction. Although most reported cases of CHAOS are sporadic, the condition may also be associated with certain syndromes and a variety of cervical masses. Meningocele and myelomeningocele have not yet been reported in association with CHAOS. We describe the typical constellation of sonographic findings in a case of early diagnosis of CHAOS associated with cervical myelomeningocele. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:507-510, 2017. © 2016 Wiley Periodicals, Inc.

  4. Spina Bifida. NICHCY Disability Fact Sheet #12

    Science.gov (United States)

    National Dissemination Center for Children with Disabilities, 2011

    2011-01-01

    "Spina bifida" is one of the most common birth defects in the United States, affecting some 1,500 babies each year. Spina bifida happens during the first month or so of pregnancy and means that the baby's spine did not close completely. Damage to the nerves and the spinal cord may result. Following a brief story about a child with a…

  5. Functional aspects of spina bifida in childhood

    NARCIS (Netherlands)

    Schoenmakers, Maria Adriana Gerdina Cornelia

    2003-01-01

    Due to advanced medical treatment, more children with spina bifida survive into adulthood. Most outcome studies in the field of spina bifida research focus on disease aspects (‘pathology’) and its relation to one of the domains in the ‘disablement process’ such as physical functioning, cognitive

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

    Science.gov (United States)

    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.

  7. Myelo-meningocele: A multi-disciplinary problem | Ibe | Nigerian ...

    African Journals Online (AJOL)

    Background: Myelo-meningoceles are part of congenital afflictions of the spinal column. They arise from the failure of the neural tube to fuse properly during early embryonic growth. The causes and sequalae are multiple and, therefore, require multiple disciplines, to handle them. This study assessed the role of ...

  8. Fat distribution in children and adolescents with myelomeningocele.

    Science.gov (United States)

    Mueske, Nicole M; Ryan, Deirdre D; Van Speybroeck, Alexander L; Chan, Linda S; Wren, Tishya A L

    2015-03-01

    To evaluate fat distribution in children and adolescents with myelomeningocele using dual-energy X-ray absorptiometry (DXA). Cross-sectional DXA measurements of the percentage of fat in the trunk, arms, legs, and whole body were compared between 82 children with myelomeningocele (45 males, 37 females; mean age 9y 8mo, SD 2y 7mo; 22 sacral, 13 low lumbar, 47 mid lumbar and above) and 119 comparison children (65 males, 54 females; mean age 10y 4mo, SD 2y 4mo). Differences in fat distribution between groups were evaluated using univariate and multivariate analyses. Children with myelomeningocele had higher total body fat (34% vs 31%, p=0.02) and leg fat (42% vs 35%, pchildren, but no differences in trunk or arm fat after adjustment for anthropometric measures. Children with myelomeningocele have higher than normal total body and leg fat, but only children with higher level lesions have increased trunk fat, which may be caused by greater obesity in this group. Quantifying segmental fat distribution may aid in better assessment of excess weight and, potentially, the associated health risks. © 2014 Mac Keith Press.

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

    Science.gov (United States)

    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.

  10. Perineal Sensation Predictive of Spina Bifida Outcome

    Directory of Open Access Journals (Sweden)

    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.

  11. Test Your Knowledge of Spina Bifida

    Science.gov (United States)

    ... specialize in spina bifida, to high health care costs from frequent surgeries and hospitalizations. Centers for Disease Control and Prevention (CDC) projects improve the quality of life and encourage full participation at every ...

  12. Myelo-meningocele: A multi-disciplinary problem.

    Science.gov (United States)

    Nnamdi, Ibe Michael Onwuzuruike

    2014-01-01

    Myelo-meningoceles are part of congenital afflictions of the spinal column. They arise from the failure of the neural tube to fuse properly during early embryonic growth. The causes and sequalae are multiple and, therefore, require multiple disciplines, to handle them. This study assessed the role of inter-disciplinary approach in the management of myelo-meningoceles. From 1975 to 2007, the author repaired 20 midline lumbar and lumbo-sacral myelo-meningoceles; 5 in Jamaica and 15 in Nigeria. There were 11 males and 9 females. Their ages, at operation, ranged from 1 to 168 days. All had urine and faecal incontinence and severe paraparesis to paraplegia. Skeletal deformities were present in 16 cases. The operations were carried out under routine general anaesthesia and in prone position. All cases were followed-up for up to 60 months, apart from one who died 4 days at home after discharge. There were no deaths within the period of hospitalisation, usually about 14 days. Those followed-up have not made much improvement, though they were able to sit up without support and move around by shifting on their buttocks on the floor. We must continue to help these patients, but under the umbrella of specialised rehabilitation centres with the different specialists working together to make these patients attain a meaningful life and be useful to themselves and the society.

  13. 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

  14. Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR is associated with ADHD in myelomeningocele patients.

    Directory of Open Access Journals (Sweden)

    Catherine J Spellicy

    Full Text Available The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD in individuals with myelomeningocele. The rationale for the study was twofold: folate metabolizing genes, (e.g. MTHFR, are important not only in the etiology of neural tube defects but are also critical to cognitive function; and individuals with myelomeningocele have an elevated incidence of ADHD. Here, we tested 478 individuals with myelomeningocele for attention-deficit hyperactivity disorder behavior using the Swanson Nolan Achenbach Pelham-IV ADHD rating scale. Myelomeningocele participants in this group for whom DNAs were available were genotyped for seven single nucleotide polymorphisms (SNPs in the MTHFR gene. The SNPs were evaluated for an association with manifestation of the ADHD phenotype in children with myelomeningocele. The data show that 28.7% of myelomeningocele participants exhibit rating scale elevations consistent with ADHD; of these 70.1% had scores consistent with the predominantly inattentive subtype. In addition, we also show a positive association between the SNP rs4846049 in the 3'-untranslated region of the MTHFR gene and the attention-deficit hyperactivity disorder phenotype in myelomeningocele participants. These results lend further support to the finding that behavior related to ADHD is more prevalent in patients with myelomeningocele than in the general population. These data also indicate the potential importance of the MTHFR gene in the etiology of the ADHD phenotype.

  15. 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

  16. [Orthopedic management of spina bifida].

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  18. Obesity Prevention for Individuals with Spina Bifida.

    Science.gov (United States)

    Polfuss, Michele; Bandini, Linda G; Sawin, Kathleen J

    2017-06-01

    Obesity is a common comorbidity in individuals with spina bifida. Carrying excess weight exacerbates the inherent health challenges associated with spina bifida, impedes the individual's ability to self-manage their condition, and creates further challenges for family members and caregivers. This manuscript provides a narrative review of key issues for understanding and prevention of obesity in persons with spina bifida within the context of the social ecological model. Specific variables related to obesity and spina bifida include individual factors (i.e., body composition and measurement issues, energy needs, eating patterns, physical activity, and sedentary activity) family factors (i.e., parenting/family, peers), community factors (i.e., culture, built environment, healthcare and healthcare providers, and school), and societal factors (i.e., policy issues). Due to the complex etiology of obesity and its increased prevalence in individuals with spina bifida, it is critical to initiate prevention efforts early with a multifactorial approach for this at-risk population. Increased research is warranted to support these efforts.

  19. To Study the Effect of Reconstructive Surgery of Myelomeningocele on the Prognosis of Patients

    Directory of Open Access Journals (Sweden)

    Ali Nazemi

    2016-04-01

    Full Text Available Abstract Background: Myelomeningocele is one of the common congenital malformation in childhood that has association with many disorders. in addition to routine management of associated disorders surgical repair of myelomeningocele has been considered in many cases . The aim of this study is to evaluate the role of myelomeningocele surgical repair in prognosis of children with myelomeningocele Materials and Methods: This is a case-control study from 2001 to 2013 in 60 infants with myelomeningocele in two department of neurosurgery in Arak and Ilam cities (Vali Asr and Imam Khomeni hospitals, respectively. Infants were divided into two groups according to operable and inoperable cases (each group includes 30 cases. The prognosis of two groups was investigated with respect to mortality, and Stark and Drummond disability rating scale. Data were analyzed with SPSS 18 software. Results: Case group had better prognoses compared to control with respect to handicap (p=0.003, urinary tract disorders (p=0.006, IQ (p=0.001, global disability(p=0.006 and mortality rate, but there was no difference between two groups with respect to hydrocephalus(p=0.3. Conclusion: According to the results, mortality, disability and prognosis of infants with myelomeningocele that underwent operation were better. In conclusion, early myelomeningocele repair is advised for infants, because it affects the improvement of prognosis and the quality of patients' life.

  20. Role of SbmA in the Uptake of Peptide Nucleic Acid (PNA)-Peptide Conjugates in E. coli

    DEFF Research Database (Denmark)

    Ghosal, Anubrata; Vitali, Ally; Stach, James E M

    2013-01-01

    Antisense PNA oligomers targeting essential genes (acpP or ftsZ) and conjugated to the delivery peptide L((KFF)(3)K) show complete growth inhibition of wild type E. coli strain (MG1655) with submicromolar MIC. In this study we show that resistant mutants generated against such PNA......-peptide conjugates had disruptions in the region of sbmA, a gene encoding an inner membrane peptide transporter. The wild type sensitivity to the PNA conjugates was re-established in the resistance mutants by complementation with sbmA. Furthermore, deletion of sbmA in E. coli AS19, a strain that is sensitive...

  1. Surgical Management of Hip Problems in Myelomeningocele: A Review Article

    Directory of Open Access Journals (Sweden)

    Taghi Baghdadi

    2016-07-01

    Full Text Available Background: Children with myelomeningocele (MMC develop a wide variety of hip deformities such as muscle imbalance, contracture, subluxation, and dislocation. Various methods and indications have been introduced for treatment of muscle imbalances and other hip problems in patients with MMC but there is no study or meta-analysis to compare the results and complications. This review aims to find the most acceptable approach to hip problems in patients with MMC. Methods: MEDLINE was searched up to April 2015. All study designs that reported on the outcomes of hip problems in MMC were included. From 270 screened citations, 55 were strictly focused on hip problem in MMC were selected and reviewed. Results: Complex osseous and soft tissue reconstructive procedures to correct hip dysplasia and muscle balancing around the hip are rarely indicated for MMC patients without good quadriceps power. Conclusion: Over the years a consensus on the best algorithm for treatment of hip dislocation in myelomeningocele has been missing, however, muscular balancing with/out osseous procedure seems a reasonable approach especially in unilateral mid-lumbar MMC.

  2. Effects of substituting soya bean meal (SBM) with blood meal (BM) on biochemical profile of pregnant pigs.

    Science.gov (United States)

    Abonyi, Festus Otaka; Machebe, Ndubuisi Samuel; Ezea, Michael Sunday; Eze, James I; Omeke, Benjamin Chigozie; Marire, Benjamin Nwabueze

    2013-04-01

    Twenty-four Large White × Landrace crossbreed primigravid pigs, aged 7.50 to 8.00 months weighing between 86.15 and 88.24 kg were used to study the effects of feeding graded levels of soya bean meal (SBM) replaced blood meal (BM) diets on serum biochemical profile in gestating pigs. The pigs were randomly allotted to four finisher diets formulated such that BM replaced SBM at 0.0, 50.0, 75.0 and 100.0 %, respectively. The diets were T1 (100.0 % SBM, 0.0 % BM), T2 (50.0 % SBM, 50.0 % BM), T3 (25.0 % SBM, 75.0 % BM) and T4 (0.0 % SBM, 100.0 % BM). Individual animal's daily ration of the test diets was 2.20, 2.00 and 2.50 kg at stages one, two and three of gestation. Blood sampling and analysis for the effects of the test diets on biochemical profile of the experimental animals were carried out prior to conception, at weeks 3, 7 and 11 of gestation, respectively. The result showed no significant (P ≥ 0.05) dietary treatment effects on total protein, albumin, globulin fraction, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, creatinine and urea profile of the pigs fed with BM diets when compared to the control fed with 100.0 % SBM. There was however a significant (P ≤ 0.05) variation in these biochemical indices in all the experimental groups at different stages of gestation. It was concluded that BM can replace 100.0 % of SBM in the diets of pregnant pigs in the tropical humid environment without any deleterious effect on their health.

  3. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... FOAs) for NCMRR Partners Training & Career Development Funded Projects Research Tools & Resources History Establishment Events in NICHD ... the NICHD, describes the study’s findings. Read the Management of Myelomeningocele Study (MOMS) Interview text alternative . The ...

  4. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... Search Search Toggle navigation Toggle Search Search Search Full Main Navigation Research Research at NICHD Division of ... Read the Management of Myelomeningocele Study (MOMS) Interview text alternative . The NICHD sponsors research on development, before ...

  5. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... Research Information Find a Study Resources and Publications Spinal Cord Injury (SCI) Condition Information NICHD Research Information Find ... the spinal column fails to close around the spinal cord. With myelomeningocele, the spinal cord protrudes through an ...

  6. Congenital myelomeningocele - do we have to change our management?

    Directory of Open Access Journals (Sweden)

    Gräfe Gerd

    2010-10-01

    Full Text Available Abstract Background Eagerly awaiting the results of the Management of Myelomeningocele Study (MOMS and with an increasing interest in setting up intrauterine myelomeningocele repair (IUMR, the optimal management of patients suffering from congenital myelomeningocele (MMC has become a matter of debate again. We performed a cross-sectional study at our referral-center for MMC to determine the outcome for our expectantly managed patients. Materials and methods A computed chart review at our institution revealed 70 patients suffering from MMC. Forty-three patients were eligible for the study and analyzed further. A retrospective analysis was performed only in patients that underwent MMC repair within the first two days of life and were seen at our outpatient clinic between 2008 and 2009 for a regular multidisciplinary follow-up. Data were collected on: gestational age (GA and weight at birth, age at shunt placement and shunt status after the first year of life, radiological evidence for Arnold-Chiari malformation (ACM and tethered cord (TC, need for surgery for TC, bladder function, lower leg function and educational level. Data were compared to published results for IUMR and to studies of historical controls. Results Patients were born with MMC between 1979 and 2009 and are now 13.3 ± 8.9 (mean ± SD years of age. At birth, mean GA was 37.8 ± 2.3 weeks and mean weight was 2921.3 ± 760.3 g, both significantly higher than in IUMR patients. Shunt placement in our cohort was required in 69.8% at a mean age of 16.0 ± 10.7 days, which was less frequent than for historical controls. Amongst our cohort, radiological observations showed 57.1% had ACM II and 41.9% had TC. Only two of our patients underwent a surgical correction for TC. Clean intermittent catheterization was performed in 69.7% of our patients, 56.4% were (assisted walkers and 64.1% attended regular classes, both comparable to historical controls. Conclusions With a close and

  7. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... Opportunities Grants Process, Policies & Strategies Peer Review Small Business Programs Training & Career ... Video: Surgery on Fetus Reduces Complications of Spina Bifida Share ...

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

    Science.gov (United States)

    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

  9. Environmental efficiency analysis of power industry in China based on an entropy SBM model

    International Nuclear Information System (INIS)

    Zhou, Yan; Xing, Xinpeng; Fang, Kuangnan; Liang, Dapeng; Xu, Chunlin

    2013-01-01

    In order to assess the environmental efficiency of power industry in China, this paper first proposes a new non-radial DEA approach by integrating the entropy weight and the SBM model. This will improve the assessment reliability and reasonableness. Using the model, this study then evaluates the environmental efficiency of the Chinese power industry at the provincial level during 2005–2010. The results show a marked difference in environmental efficiency of the power industry among Chinese provinces. Although the annual, average, environmental efficiency level fluctuates, there is an increasing trend. The Tobit regression analysis reveals the innovation ability of enterprises, the proportion of electricity generated by coal-fired plants and the generation capacity have a significantly positive effect on environmental efficiency. However the waste fees levied on waste discharge and investment in industrial pollutant treatment are negatively associated with environmental efficiency. - Highlights: ► We assess the environmental efficiency of power industry in China by E-SBM model. ► Environmental efficiency of power industry is different among provinces. ► Efficiency stays at a higher level in the eastern and the western area. ► Proportion of coal-fired plants has a positive effect on the efficiency. ► Waste fees and the investment have a negative effect on the efficiency

  10. Osteoporosis in paediatric patients with spina bifida

    OpenAIRE

    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...

  11. Sports participation in adolescents and young adults with myelomeningocele and its role in total physical activity behaviour and fitness

    NARCIS (Netherlands)

    L.M. Buffart (Laurien); H.P. Ploeg (Hidde); A.E. Bauman (Adrian); F.W. van Asbeck (Floris); M.E. Roebroeck (Marij); H.J.G. van den Berg-Emons (Rita); H.J. Stam (Henk)

    2008-01-01

    textabstractObjective: To assess sports participation in young adults with myelomeningocele and its association with personal, disease-related and psychosocial factors, physical activity and fitness. Design: Cross-sectional study. Subjects: Fifty-one persons (26 males) with myelomeningocele, mean

  12. Parents' psychosocial adjustment in families of children with Spina Bifida

    NARCIS (Netherlands)

    Vermaes, Ignatius Petrus Renatus

    2007-01-01

    Spina bifida is the most common, congenital, neurological disorder. Children with spina bifida live with a range of impairments depending on the severity and the location of the spinal defect. Medical treatment of the disorder is very complex and can involve decision-making processes around

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

    Science.gov (United States)

    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.

  14. Spina Bifida: General Information. Fact Sheet Number 12 = La Espina Bifida: Informacion General. Fact Sheet Number 12.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet offers definitions of the three types of spina bifida, outlines their incidence, describes characteristics of individuals with spina bifida, and reviews educational implications. The fact sheet emphasizes that school programs should be flexible to accommodate these students' special needs and frequent absences, that children with…

  15. Society of Behavioral Medicine's (SBM) position on emerging policy issues regarding electronic nicotine delivery systems (ENDS): A need for regulation.

    Science.gov (United States)

    Rojewski, Alana M; Coleman, Nortorious; Toll, Benjamin A

    2016-09-01

    Electronic nicotine delivery systems (ENDS), commonly known as electronic cigarettes (or e-cigarettes), are widely available in the USA, yet almost entirely unregulated on a national level. Researchers are currently gathering data to understand the individual and public health effects of ENDS, as well as the role that ENDS may play in tobacco treatment. Given these uncertainties, regulatory efforts should be aimed at understanding and minimizing any potential harms of ENDS. The Society of Behavioral Medicine (SBM) supports stronger regulation of ENDS, incorporation of ENDS into clean air policies, and special consideration of safety standards to protect vulnerable populations. SBM also supports research on ENDS to guide policy decisions.

  16. Closure of Myelomeningocele Defects Using a Limberg Flap or Direct Repair

    Directory of Open Access Journals (Sweden)

    Jung-Hwan Shim

    2016-01-01

    Full Text Available BackgroundThe global prevalence of myelomeningocele has been reported to be 0.8–1 per 1,000 live births. Early closure of the defect is considered to be the standard of care. Various surgical methods have been reported, such as primary skin closure, local skin flaps, musculocutaneous flaps, and skin grafts. The aim of this study was to describe the clinical characteristics of myelomeningocele defects and present the surgical outcomes of recent cases of myelomeningocele at our institution.MethodsPatients who underwent surgical closure of myelomeningocele at our institution from January 2004 to December 2013 were included in this study. A retrospective chart review of their medical records was performed, and comorbidities, defect size, location, surgical procedures, complications, and the final results were analyzed.ResultsA total of 14 patients underwent surgical closure for myelomeningocele defects. Twelve cases were closed with direct skin repair, while two cases required local skin flaps to cover the skin defects. Three cases of infection occurred, requiring incision and either drainage or removal of allogenic materials. One case of partial flap necrosis occurred, requiring secondary revision using a rotational flap and a full-thickness skin graft. Despite these complications, all wounds eventually healed completely.ConclusionsMost myelomeningocele defects can be managed by direct skin repair alone. In cases of large defects, in which direct repair is not possible, local flaps may be used to cover the defect. Complications such as wound dehiscence and partial flap necrosis occurred in this study; however, all such complications were successfully managed with simple ancillary procedures.

  17. Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

    Directory of Open Access Journals (Sweden)

    Siti W. Mohd-Zin

    2017-01-01

    Full Text Available Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs. It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

  18. Triad of physical activity, aerobic fitness and obesity in adolescents and young adults with myelomeningocele.

    Science.gov (United States)

    Buffart, Laurien M; Roebroeck, Marij E; Rol, Mathilde; Stam, Henk J; van den Berg-Emons, Rita J G

    2008-01-01

    Comprehensively and objectively assess physical activity, aerobic fitness and body fat in adolescents and young adults with myelomeningocele and to investigate their relationships. Cross-sectional study. Fifty-one persons (26 males) with myelomeningocele aged 21.1 (standard deviation) 4.5) years. Physical activity was measured with an accelerometry-based activity monitor. Aerobic fitness was defined as the maximum oxygen uptake during the last minute of a maximal exercise test. Body fat was assessed using sum of 4 skin-folds and body mass index. Correlations were studied using multiple regression analyses. Thirty-nine percent of the participants were inactive and another 37% were extremely inactive. Aerobic fitness was 42% lower than normative values and 35% were obese. Ambulatory status was related to daily physical activity (beta = 0.541), aerobic fitness (beta = 0.397) and body fat (beta = -0.243). Gender was related to aerobic fitness (beta = -0.529) and body fat (beta = 0.610). Physical activity was related to aerobic fitness in non-ambulatory persons with myelomeningocele (beta = 0.398), but not in ambulatory persons. Adolescents and young adults with myelomeningocele were physically inactive, had poor aerobic fitness and high body fat. Differences exist between subgroups regarding gender and ambulatory status.

  19. Spinal cord transection before scoliosis correction in myelomeningocele may improve bladder function

    NARCIS (Netherlands)

    Linthorst, Josephine I.; Veenboer, Paul W.; Dik, Pieter; Pruijs, Hans E. H.; Han, Sen K. S.; de Kort, Laetitia M. O.; de Jong, Tom P. V. M.

    2014-01-01

    In patients with myelomeningocele (MMC) and coexistent scoliosis, a spinal cord transection (SC-transection) is sometimes performed before scoliosis correction to prevent traction on the myelum after stretching the spinal column. Performing a SC-transection may have positive effects on bladder

  20. Transillumination test: A bedside aid for differentiating meningocele from myelomeningocele: Point of care testing

    Directory of Open Access Journals (Sweden)

    Aakash Pandita

    2015-01-01

    Full Text Available Transillumination test is a bedside and simple technique to illuminate the body cavity by transmission of light through the cavity. Transillumination test is used in a variety of conditions like hydrocele, Hydrocephalus, pneumoperitonium and pneumothorax in neonatology. We describe use of transillumination for differentiating meningocele and myelomeningocele.

  1. 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 ...

  2. Are There Disorders or Conditions Associated with Spina Bifida?

    Science.gov (United States)

    ... 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. ...

  3. 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 ...

  4. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... OLPP) Office of Science Policy, Reporting, and Program Analysis (OSPRA) Division of Extramural Research (DER) Extramural Scientific ... Fetus Reduces Complications of Spina Bifida Share Facebook Twitter Pinterest Email Print NICHD Archive Note: Information on ...

  5. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... Follow follow us on Facebook follow us on Twitter follow us on Pinterest follow us on YouTube ... Fetus Reduces Complications of Spina Bifida Share Facebook Twitter Pinterest Email Print NICHD Archive Note: Information on ...

  6. Surgery on Fetus Reduces Complications of Spina Bifida

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    Full Text Available ... Institutes of Health Directory Follow follow us on Facebook follow us on Twitter follow us on Pinterest ... on Fetus Reduces Complications of Spina Bifida Share Facebook Twitter Pinterest Email Print NICHD Archive Note: Information ...

  7. Endoscopic Third Ventriculostomy for the Treatment of Hydrocephalus in a Pediatric Population with Myelomeningocele.

    Science.gov (United States)

    Rei, Joana; Pereira, Josué; Reis, Carina; Salvador, Sérgio; Vaz, Rui

    2017-09-01

    Hydrocephalus develops in up to 90% of patients born with myelomeningocele. Although endoscopic third ventriculostomy (ETV) is currently considered the preferred treatment for obstructive hydrocephalus, its results have been inconsistent in patients with myelomeningocele. This study focuses on clinical and radiologic outcomes of ETV in children with hydrocephalus related to myelomeningocele. Medical records of 18 pediatric patients with myelomeningocele treated with ETV from 1998 to 2015 at the Centro Hospitalar São João (Porto, Portugal) were reviewed retrospectively. Patients' caregivers were contacted to evaluate their clinical manifestations before and after surgery regarding signs and symptoms of hydrocephalus and Chiari malformation. Control neuroradiologic imaging of 9 patients was obtained and analyzed. Success of ETV was defined by clinical resolution and radiologic confirmation. ETV was successful in 8 of 18 cases (44.4%). Groups of patients were compared according to age at the time of surgery, with a 40% (2/5) success rate in newborns and a 50% success rate (3/6) in children older than 1 year. Eight patients underwent ETV as a first option, with a 37.5% success rate. Ten patients underwent the procedure after previous ventriculoperitoneal shunt (VPS), 5 for malfunction and 5 for VPS infection with 60% and 40% success rates, respectively. Early postoperative complications occurred in 2 patients. ETV can be performed in patients with myelomeningocele and hydrocephalus with success rates of almost 50%. Prior VPS or VPS malfunction or infection do not contraindicate ETV. If possible, the procedure should be delayed until the patient is at least 1 month old. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... the NICHD, describes the study’s findings. Read the Management of Myelomeningocele Study (MOMS) Interview text alternative . The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical ...

  9. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    Full Text Available ... Research Information Find a Study Resources and Publications Spinal Cord Injury (SCI) Condition Information NICHD Research Information Find a ... Information Find a Study More Information Traumatic Brain Injury (TBI) ... a condition in which the spinal column fails to close around the spinal cord. With myelomeningocele, the spinal cord protrudes through an ...

  10. Arnold-Chiari-II malformation and cognitive functioning in spina bifida.

    NARCIS (Netherlands)

    Vinck, A.; Maassen, B.A.M.; Mullaart, R.A.; Rotteveel, J.J.

    2006-01-01

    Spina bifida is a multifaceted neurological condition with complex neuropsychological sequelae. The cognitive outcome in spina bifida has frequently been attributed to the severity of the hydrocephalus. However, because of complex neuropathology, the influence of hydrocephalus alone does not

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

    Science.gov (United States)

    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.

  12. The relationship between motor function, cognition, independence and quality of life in myelomeningocele patients.

    Science.gov (United States)

    Luz, Carolina Lundberg; Moura, Maria Clara Drummond Soares de; Becker, Karine Kyomi; Teixeira, Rosani Aparecida Antunes; Voos, Mariana Callil; Hasue, Renata Hydee

    2017-08-01

    Motor function, cognition, functional independence and quality of life have been described in myelomeningocele patients, but no study has investigated their relationships. We aimed to investigate the relationships between motor function, cognition, functional independence, quality of life, age, and lesion level in myelomeningocele patients, and investigate the influence of hydrocephalus on these variables. We assessed 47 patients with the Gross Motor Function Measure (motor function), Raven's Colored Progressive Matrices (cognition), Pediatric Evaluation of Disability Inventory (functional independence) and the Autoquestionnaire Qualité de vie Enfant Imagé (quality of life). Spearman's correlation tests determined relationships between the variables. The Friedman ANOVAs determined the influence of hydrocephalus. Motor function was strongly related to mobility and lesion level, and moderately related to cognition, self-care and social function. Cognition and quality of life were moderately related to functional independence. Age correlated moderately with functional independence and quality of life. Hydrocephalus resulted in poorer motor/cognitive outcomes and lower functional independence.

  13. Long-term follow-up for keystone design perforator island flap for closure of myelomeningocele.

    Science.gov (United States)

    Donaldson, Christopher; Murday, Hamsaveni K M; Gutman, Matthew J; Maher, Rory; Goldschlager, Tony; Xenos, Chris; Danks, R Andrew

    2018-04-01

    We have previously reported a small series on the closure of large myelomeningocele (MMC) defects with a keystone design perforator island flap (KDPIF) in a paediatric neurosurgical centre in Australia. We are now presenting an updated longer term follow-up of an expanded series demonstrating longer term durability of this vascularized flap for large myelomeningocele defects. The prospective data from the Monash Neurosurgical Database were used to select all cases of MMC between December 2008 and September 2016. Retrospective analysis of the neurosurgical database revealed an additional three patients who underwent KDPIF closure at the Monash Medical Centre for MMC repair at birth. Wound healing was satisfactory in all six cases. With delayed follow-up, there was no associated skin flap separation, skin flap dehiscence, skin flap necrosis, cerebro-spinal fluid leak, however two infections were encountered, both resolved with conservative management including antibiotics and simple washout. In this expanded case series with increased longevity of follow-up, the keystone design perforator island flap remains a robust alternative for closure of large myelomeningocele defects.

  14. Differences between the events preceding spina bifida and anencephaly.

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  16. The school inclusion and use of assistive technology with myelomeningocele sequelae students: a view of the teachers

    Directory of Open Access Journals (Sweden)

    Caroline Penteado Assis

    2011-06-01

    Full Text Available Myelomeningocele is a congenital malformation that affects the fetus during pregnancy. It can causes numerous consequences for the development of the child and consequently in their schooling process. So, there are several challenges that can be experienced by these children in their inclusion at school. The use of assistive technology in the school context has been implanted with goal to high from the functional abilities of these students. In Brazil are conducted a lot of studies to know the reality of children with myelomeningocele. Therefore, the goal of this study was to investigate, from the teacher ́s perspective of regular and multifunctional class, as was the process of schooling for students with myelomeningocele sequelae and resource utilization of assistive technology in the school context. The participants of this research were seven teachers and four students with myelomeningocele sequels enclosed in regular scholl.The researcher confectioned the instruments used in interviews. Data were analyzed using content of interview analysis. The results reveal that there are present challenges for inclusion of students with myelomeningocele sequelae and that teachers did not use assistive technology resources at school. It is considered that for the real practice of educational inclusion of these students the knowledge about meningomyelocele and various technologies that can be used in the school context must be published.

  17. Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management.

    Science.gov (United States)

    Nejat, Farideh; Kamali, Shahab; El Khashab, Mostafa

    2013-08-01

    Myelomeningocele is a complex central nervous system malformation mostly associated with other neural and extraneural anomalies. A rare special feature of the forehead and skull was observed in myelomeningocele. Here, we present several patients with myelomeningocele, severe hydrocephalus, and interfrontal encephalocele accompanied by metopic suture widening and abnormally shaped frontal bones. Five children with this feature were enrolled in this series. The age, sex, location of myelomeningocele sac, neurological deficits, hydrocephalus and history of shunt surgery, and follow-up period were evaluated. Patients were aged from 1 to 12 months (mean, 6 months). All patients were male. Most sacs were located in lumbar and lumbosacral areas. Neurological deficits varying from only sphincter problem to paraplegia were found in all patients. Hydrocephalus was found in all children that needed a shunt procedure. Asymptomatic Chiari malformation, interfrontal encephalocele, and corpus callosum agenesis were evident in five, five, and three patients, respectively. Anterior fontanel anomalies known as interfrontal encephalocele associated with myelomeningocele have been reported before. The patients have an open metopic suture extending widely to the nasal radix producing hypertelorism accompanied by interfrontal herniation of frontal lobes. The associated hydrocephalus exaggerates the anomaly. Treatment of accompanying hydrocephalus is advised to decrease the severity of frontal lobe herniation. Some patients may need frontal bone reconstruction surgery to provide cosmetic correction at the place of the midline frontal bone defect.

  18. Osteoporosis in paediatric patients with spina bifida.

    Science.gov (United States)

    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.

  19. Research on the industry environmental total factor productivity in Jiangsu Province based on the SBM-SML

    Science.gov (United States)

    Lingfang, Sun; Han, Wang; Jian, Gong

    2017-03-01

    This paper uses the SBM-SML to measure the industry environmental total factor productivity in Jiangsu province of its 13 cities during 2005-2014 with SO2 emissions as the undesirable output, and discomposes the total factor productivity into the pure technical efficiency, the scale efficiency change, the pure technical change and the scale technical change. The research shows that the overall trend of the industry environmental total factor productivity is increasing in Jiangsu province during 2005-2014, the technical change is a main reason pushing up growth rates of economy, and the pure technical change is the intrinsic motivation of the technical change.Introduction.

  20. Surgery on Fetus Reduces Complications of Spina Bifida

    Medline Plus

    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 ...

  1. Correlates of Self Esteem in Adolescents with Spina Bifida.

    Science.gov (United States)

    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,…

  2. Pregnancy outcome and complications in women with spina bifida.

    Science.gov (United States)

    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.

  3. The spectrum of urological disease in patients with spina bifida.

    LENUS (Irish Health Repository)

    Cahill, R A

    2012-02-03

    BACKGROUND: [corrected] Urological complications are the major cause of ill health during childhood and adult life of patients with spina bifida but the significance of urinary tract disease on the individual and the healthcare services is underemphasised. AIM: To assess the effects of spina bifida on the individual and the healthcare services. METHODS: A retrospective review was performed to assess the frequency and significance of urological conditions requiring hospital attendance in patients with spina bifida currently attending a specialised multidisciplinary clinic over a period of six months. RESULTS: Urinary sepsis accounted for the majority of admissions (62%), while 38 of 62 patients required 60 surgical procedures. Targeting the primary urological abnormality (the dysfunctional and usually poorly compliant bladder) allows implementation of effective treatments, including regular intermittent bladder catherisation (52%) in order to preserve upper renal tract function. Associated postural abnormalities complicated both conservative and interventional therapies. CONCLUSION: This study highlights the surgical commitment for units caring for patients with spina bifida, the important considerations for the future healthcare services, and the range and severity of urological diseases encountered by these patients.

  4. 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

  5. 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

  6. 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

  7. Interrelationships of sex, level of lesion, and transition outcomes among young adults with myelomeningocele.

    Science.gov (United States)

    Bellin, Melissa H; Dicianno, Brad E; Levey, Eric; Dosa, Nienke; Roux, Gayle; Marben, Kim; Zabel, T Andrew

    2011-07-01

    To advance understanding of the interrelationships of sex, level of lesion (LOL), self-management, community integration (employment, independent living), and quality of life (QOL) in young adults with myelomeningocele. A multicenter convenience sample of 50 individuals with myelomeningocele, 18 to 25 years of age (mean age 21 y 5 mo, SD 2 y), participated in a structured clinical interview on self-management (Adolescent Self-Management and Independence Scale II [AMIS II]) and completed a self-report questionnaire comprising standardized measures. QOL was assessed using the World Health Organization Quality of Life (WHOQOL)-BREF instrument. A chart review yielded clinical data. Most participants were Caucasian (78%), female (56%: 28 females, 22 males), unemployed (58%), and in supervised living environments (74%). Eighty per cent had a history of hydrocephalus requiring shunt placement. A lumbar LOL was most frequently reported (64%), followed by a sacral LOL (22%), and thoracic LOL (7%). Males were more likely to report employment (p=0.008), but females had greater success in transitioning into independent living settings (p=0.015). LOL was a significant predictor of specific dimensions of self-management, employment, and QOL (p < 0.05). Mean scores on the AMIS II reflected deficits in condition management activities and tasks of everyday life. Limited QOL was also observed. The overall low rates of employment and independent living suggest that individuals with myelomeningocele are experiencing great difficulty in achieving these milestones of emerging adulthood, regardless of sex. Limited success in developing self-management skills and restricted QOL also highlight vulnerability in this population. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

  8. Sonography compared with MR imaging in the evaluation of card tethering following myelomeningocele repair

    International Nuclear Information System (INIS)

    Newman, B.; Bowen, A.; Albright, L.

    1989-01-01

    This paper reports on MR imaging and videotaped US spine examinations to evaluate cord tethering were retrospectively compared in 12 children with prior myelomeningocele repair and correlated with clinical and surgical findings. Although US did not delineate normal or abnormal anatomy as well as MR imaging, both types of studies confirmed the presence of tethering in 10 patients. One child with a normal US examination and abnormal MR images had tethering confirmed surgically. A second child had a US study suggestive of tethering with equivocal MR images. Postoperative studies in eight patients correlated less well; US suggested persistent tethering in five patients and MR imaging indicated tethering in two

  9. Cerebral and spinal MR-findings in patients with postrepair myelomeningocele

    International Nuclear Information System (INIS)

    Just, M.; Thelen, M.; Ludwig, B.

    1990-01-01

    In 114 patients with postrepair myelomeningocele MRI of the spine was performed. Tethered cord (89%) and associated malformations (syrinx, lipoma etc.) (33%) were the most important findings. Additional MRI scans of the head (44 patients) revealed numerous further anomalies. Arnold Chiari malformation was found in 76% of the patients (ACM I: 32%, ACM II: 44%). In the ACM II group compression of lower cranial nerves, brain stem, and cerebellum can lead to considerable neurologic symptoms. Therefore in patients with progressive neurologic dysfunction a complete investigation of the whole spine and brain is necessary. MRI proves to be the diagnostic procedure of choice in patients with dysraphic myelodysplasia. (orig.)

  10. Comparison of Dorsal Intercostal Artery Perforator Propeller Flaps and Bilateral Rotation Flaps in Reconstruction of Myelomeningocele Defects.

    Science.gov (United States)

    Tenekeci, Goktekin; Basterzi, Yavuz; Unal, Sakir; Sari, Alper; Demir, Yavuz; Bagdatoglu, Celal; Tasdelen, Bahar

    2018-04-09

    Bilateral rotation flaps are considered the workhorse flaps in reconstruction of myelomeningocele defects. Since the introduction of perforator flaps in the field of reconstructive surgery, perforator flaps have been used increasingly in the reconstruction of various soft tissue defects all over the body because of their appreciated advantages. The aim of this study was to compare the complications and surgical outcomes between bilateral rotation flaps and dorsal intercostal artery perforator (DICAP) flaps in the soft tissue reconstruction of myelomeningocele defects. Between January 2005-February 2017, we studied 47 patients who underwent reconstruction of myelomeningocele defects. Patient demographics, operative data, and postoperative data were reviewed retrospectively and are included in the study. We found no statistically significant differences in patient demographics and surgical complications between these two groups; this may be due to small sample size. With regard to complications-partial flap necrosis, cerebrospinal fluid (CSF) leakage, necessity for reoperation, and wound infection-DICAP propeller flaps were clinically superior to rotation flaps. Partial flap necrosis was associated with CSF leakage and wound infection, and CSF leakage was associated with wound dehiscence. Although surgical outcomes obtained with DICAP propeller flaps were clinically superior to those obtained with rotation flaps, there was no statistically significant difference between the two patient groups. A well-designed comparative study with adequate sample size is needed. Nonetheless, we suggest using DICAP propeller flaps for reconstruction of large myelomeningocele defects.

  11. Association of abnormal metopic suture causing hypertelorism, interfrontal encephalocele with craniofacial cosmetic deformity associated with myelomeningocele: management literature review

    Directory of Open Access Journals (Sweden)

    Calderon-Miranda Willem Guillermo

    2017-06-01

    Full Text Available Myelomeningocele may be associated with other neural and extraneural anomalies. Authors present association of metopic suture abnormality, an interfrontal encephalocele with widening of metopic suture and abnormal shape frontal bones in the forehead in those associated with hydrocephalus. Authors describes two neonates with interfrontal encephalocele, representing first series reporting in neonate. Management and pertinent literature is briefly discussed.

  12. Fetal blood gas values during fetoscopic myelomeningocele repair performed under carbon dioxide insufflation.

    Science.gov (United States)

    Baschat, Ahmet A; Ahn, Edward S; Murphy, Jamie; Miller, Jena L

    2018-05-10

    Fetoscopic myelomeningocele (MMC) repair is performed with intrauterine carbon dioxide (CO 2 ) insufflation. While lamb experiments have shown significant fetal acidemia following CO 2 insufflation corresponding information for human pregnancies is not available. We performed umbilical venous cord blood sampling in three patients during fetoscopic MMC repair at 25+1, 25+3 and 24+1 weeks gestation. Fetal venous pH at the beginning of CO 2 insufflation were 7.36, 7.46 and 7.37; repeat values were 7.28, 7.35, 7.36 after 181, 159 and 149 minutes respectively. The partial pressure of oxygen and carbon dioxide was maintained in the normal range at these times and pH decrease was less in patient 3 receiving humidified CO2 insufflation. Our observations suggest that in contrast to sheep experiments, CO2 insufflation during fetoscopic myelomeningocele repair does not cause fetal acidemia. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  13. 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

  14. Reproductive Health Care for Women with Spina Bifida

    Directory of Open Access Journals (Sweden)

    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.

  15. Models of Self in Families of People with Spina Bifida

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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…

  17. Milestone achievement in emerging adulthood in spina bifida: a longitudinal investigation of parental expectations

    Science.gov (United States)

    Holbein, Christina E; Zebracki, Kathy; Bechtel, Colleen F; Papadakis, Jaclyn Lennon; Bruno, Elizabeth Franks; Holmbeck, Grayson N

    2016-01-01

    Aim To assess changes over time in parents' expectations of adult milestone achievement (college attendance, full-time job attainment, independent living, marriage, parenthood) for young people with spina bifida, to examine how expectancies relate to actual milestone achievement, and to compare milestone achievement in emerging adults with spina bifida with that of peers with typical development. Method Sixty-eight families of children with spina bifida (mean=8.34y, 37 male, 31 female) and 68 families of children with typical development (mean=8.49y, 37 male, 31 female) participated at Time 1. At all subsequent timepoints, parents of young people with spina bifida were asked to rate their expectations of emerging adulthood milestone achievement. At Time 7, when participants were 22 to 23 years old, milestone achievement was assessed. Results Parents of young people with spina bifida lowered their expectations over time for most milestones; parents of children with higher cognitive ability reported decreases of lower magnitude. Parent expectancies were optimistic and unrelated to actual milestone achievement. Emerging adults with spina bifida were less likely than individuals with typical development to achieve all milestones. Interpretation Optimistic parental expectations may be adaptive for children with spina bifida and their families, although it is important for families to set realistic goals. Healthcare providers serve a key role in helping families of young people with spina bifida prepare for emerging adulthood. PMID:27651215

  18. 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

  19. 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

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

    Science.gov (United States)

    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…

  1. Spina Bifida Care In Kenya Through A Network Of Mobile Clinics ...

    African Journals Online (AJOL)

    Background: Children with spina bifida require ongoing multidisciplinary care in order to prevent complications and improve quality of life. Bethany Crippled Children's Centre of Kenya and BethanyKids at Kijabe Hospital have been providing such care for spina bifida patients through a network of mobile clinics throughout ...

  2. Clinical and ultrasonographic criteria for using ventriculoperitoneal shunts in newborns with myelomeningocele

    Directory of Open Access Journals (Sweden)

    Jose Roberto Tude Melo

    2015-09-01

    Full Text Available Objective Hydrocephalus is one of the main complications associated with myelomeningocele (MM. This study aimed to identify clinical and ultrasonographic criteria for using ventriculoperitoneal (VP shunts in this group of patients.Method A retrospective cohort study, based on established protocol for VP shunt implant in hydrocephalic children with MM. Parameters used to guide the indication of VP shunts included measurement of head circumference (HC, evaluation of fontanels, and measurement of lateral ventricular atrium (LVA width by transcranial ultrasonography.Results 43 children were included in the analysis, of which 74% had hydrocephalus and required a VP shunt. These children had LVA width ≥ 15 mm, showed increased HC, or had bulging fontanels.Conclusion VP shunt is required in children with increased HC (≥ 2 standard deviation regarding age group, bulging fontanels, or LVA width of ≥ 15 mm after the closure of MM.

  3. Conventional spinal radiography as a supplement to the neurologic assessment in myelomeningocele

    International Nuclear Information System (INIS)

    Samuelsson, L.; Ekloef, O.; Karolinska Sjukhuset, Stockholm; Sankt Goreans Sjukhus, Stockholm

    1987-01-01

    In patients born with a myelomeningocele early assessment of the severity of the anomaly is mandatory for planning of therapy. Conventional spinal radiography, although a routine examination, in may hospitals has been regarded as less rewarding. However, in this retrospective investigation of 92 patients, a reasonable conformity was found between conventional radiograms and neurologic deficit at follow-up. There was no significant difference between the results of radiologic examinations carried out during the first 1 to 10 weeks after birth and the later neurologic findings. Hence, the simple radiologic assessment has proved a valuable baseline examination in these patients. In cases with discrepancy between the conventional radiologic and the neurologic findings, and in cases with a course diverging from the anticipated, more sophisticated methods of imaging are recommended. (orig.)

  4. Impact of enhanced sensory input on treadmill step frequency: infants born with myelomeningocele.

    Science.gov (United States)

    Pantall, Annette; Teulier, Caroline; Smith, Beth A; Moerchen, Victoria; Ulrich, Beverly D

    2011-01-01

    To determine the effect of enhanced sensory input on the step frequency of infants with myelomeningocele (MMC) when supported on a motorized treadmill. Twenty-seven infants aged 2 to 10 months with MMC lesions at, or caudal to, L1 participated. We supported infants upright on the treadmill for 2 sets of 6 trials, each 30 seconds long. Enhanced sensory inputs within each set were presented in random order and included baseline, visual flow, unloading, weights, Velcro, and friction. Overall friction and visual flow significantly increased step rate, particularly for the older subjects. Friction and Velcro increased stance-phase duration. Enhanced sensory input had minimal effect on leg activity when infants were not stepping. : Increased friction via Dycem and enhancing visual flow via a checkerboard pattern on the treadmill belt appear to be more effective than the traditional smooth black belt surface for eliciting stepping patterns in infants with MMC.

  5. Ventriculography and cisternography with water-soluble contrast media in infants with myelomeningocele

    International Nuclear Information System (INIS)

    Yamada, H.; Nakamura, S.; Tanaka, Y.; Tajima, M.; Kageyama, N.

    1982-01-01

    Fifty-four newborn infants with myelomeningocele and hydrocephalus were studied by ventriculography using water-soluble contrast media; 20 were also studied by metrizamide myeloencephalography and computerized tomographic (CT) cisternography. Ventriculography suggested that the aqueduct was patent in all cases. Outflow of contrast medium from the fourth ventricle was slow in most cases, complete obstruction was seen in 15%, communication was delayed at the outlet in 54%, and rather free communication was observedin 31%. Metrizamide myeloencephalography and CT cisternography suggested a partial block at the level of the ambient cisterns in approximately one-third of infants. These findings support the concept that flow of cerebrospinal fluid is reduced in several areas. Aqueductal stenosis was not considered an important factor in hydrocephalus, while the most important site of obstruction was felt to be the lowest portion of the fourth ventricle

  6. Successful Postoperative Treatment of a Lumbosacral Ulcer in a Neonate after Myelomeningocele

    Directory of Open Access Journals (Sweden)

    Angéla Meszes

    2014-02-01

    Full Text Available Wound care in neonates demands special awareness of the anatomical and physiological characteristics of their skin, and the danger of adverse mechanical and toxicological events. Here, we present the case of a full-term neonate born with myelomeningocele. Following the closing surgery on the 3rd day of postuterine life, the operated region became inflamed, the sutures opened and a necrotic discharging ulcer developed. Besides parenteral antibiotic treatment based on the microbiological findings, intelligent hydrofiber dressings were applied to the wound with regard to the special characteristics of wound care in neonates. After 72 days, the ulcer had healed with a small residual scar, and the infant is currently demonstrating normal physical and mental development.

  7. INVESTIGETING THE EFFECTS OF STANDING TRAINING ON BODY FUNCTIONS AND ACTIVITY FOR NONAMBULATORY CHILDREN WITH MYELOMENINGOCELE

    Directory of Open Access Journals (Sweden)

    Ozge Cankaya

    2017-09-01

    Full Text Available Background: It was indicated in many studies that verticalization have positive effects such as preventing fractures,regulating cardiopulmonary functions, increasing the head control, and the facilitation of postural muscles in pediatric patients, however, no study showing the effect of supported standing in patients with myelomeningocele on body functions and activity was encountered. The aim of this study is to examine the effects of structured supported standing training in children with myelomeningocele on body functions and activity according to ICF-CY. Methods: Twenty-five children with MMC aged between 3 and 17, who were divided into two groups-SST and control. The supported standing training was given to supported standing group 2 hours a day for 8 weeks in addition to the routine physical therapy program. Body functions were assessed with the Trunk Impairment Scale, and activity levels were assessed with the Gross Motor Function Measurement-88 and Pediatric Functional Independence Measurement at the beginning of the study, at the end of 8 weeks and at the end of 12 weeks from beginning. Results: The results of the structured supported standing training program during 8 weeks showed that children’s body functions and activity increased statistically significantly in SST group (p0.05. Conclusion: The results show that supported standing training effects the body functions and activity positively. It is recommended to educate the families for the supported standing training to be added to the routine physiotherapy and rehabilitation program for children with MMC and continue the training at home.

  8. Neurogenic bowel dysfunction in patients with spinal cord injury, myelomeningocele, multiple sclerosis and Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    Richard A Awad

    2011-01-01

    Exciting new features have been described concerning neurogenic bowel dysfunction, including interactions between the central nervous system, the enteric nervous system, axonal injury, neuronal loss, neurotransmission of noxious and non-noxious stimuli, and the fields of gastroenterology and neurology. Patients with spinal cord injury, myelomeningocele, multiple sclerosis and Parkinson's disease present with serious upper and lower bowel dysfunctions characterized by constipation, incontinence, gastrointestinal motor dysfunction and altered visceral sensitivity. Spinal cord injury is associated with severe autonomic dysfunction, and bowel dysfunction is a major physical and psychological burden for these patients. An adult myelomeningocele patient commonly has multiple problems reflecting the multisystemic nature of the disease. Multiple sclerosis is a neurodegenerative disorder in which axonal injury, neuronal loss, and atrophy of the central nervous system can lead to permanent neurological damage and clinical disability. Parkinson's disease is a multisystem disorder involving dopaminergic, noradrenergic, serotoninergic and cholinergic systems, characterized by motor and non-motor symptoms. Parkinson's disease affects several neuronal structures outside the substantia nigra, among which is the enteric nervous system. Recent reports have shown that the lesions in the enteric nervous system occur in very early stages of the disease, even before the involvement of the central nervous system. This has led to the postulation that the enteric nervous system could be critical in the pathophysiology of Parkinson's disease, as it could represent the point of entry for a putative environmental factor to initiate the pathological process. This review covers the data related to the etiology, epidemiology, clinical expression, pathophysiology, genetic aspects, gastrointestinal motor dysfunction, visceral sensitivity, management, prevention and prognosis of neurogenic bowel

  9. A Study on the Sustainable Performance of the Steel Industry in Korea Based on SBM-DEA

    Directory of Open Access Journals (Sweden)

    Yongrok Choi

    2018-01-01

    Full Text Available Since South Korea has implemented its emissions trading scheme (ETS in 2015, several studies have explored the sustainable performance of ETS in terms of production efficiency. However, few studies focused on Korean company-level data in their model. Thus, this study focuses on data from firms in the steel industry, which is a representative greenhouse gas emitter. Based on the slack-based measure (SBM approach, we find the following implications: First, this paper evaluates both environment energy efficiency (EEE and traditional energy efficiency and discovers that the efficiency value, in general, is overestimated, when greenhouse gas emissions are ignored. EEE still shows a decreasing efficiency value over time, implying that strong regulation is needed to increase efficiency. Second, this paper provides the return to scale status of decision-making units in the steel industry, through decomposing EEE. Results show that many steel firms are in the state of increasing returns to scale, so they can enhance their efficiency by increasing their scale. Finally, this paper provides benchmark information with which an inefficient firm can enhance its performance.

  10. Ecological efficiency in China and its influencing factors-a super-efficient SBM metafrontier-Malmquist-Tobit model study.

    Science.gov (United States)

    Ma, Xiaojun; Wang, Changxin; Yu, Yuanbo; Li, Yudong; Dong, Biying; Zhang, Xinyu; Niu, Xueqi; Yang, Qian; Chen, Ruimin; Li, Yifan; Gu, Yihan

    2018-05-15

    Ecological problem is one of the core issues that restrain China's economic development at present, and it is urgently needed to be solved properly and effectively. Based on panel data from 30 regions, this paper uses a super efficiency slack-based measure (SBM) model that introduces the undesirable output to calculate the ecological efficiency, and then uses traditional and metafrontier-Malmquist index method to study regional change trends and technology gap ratios (TGRs). Finally, the Tobit regression and principal component analysis methods are used to analysis the main factors affecting eco-efficiency and impact degree. The results show that about 60% of China's provinces have effective eco-efficiency, and the overall ecological efficiency of China is at the superior middling level, but there is a serious imbalance among different provinces and regions. Ecological efficiency has an obvious spatial cluster effect. There are differences among regional TGR values. Most regions show a downward trend and the phenomenon of focusing on economic development at the expense of ecological protection still exists. Expansion of opening to the outside, increases in R&D spending, and improvement of population urbanization rate have positive effects on eco-efficiency. Blind economic expansion, increases of industrial structure, and proportion of energy consumption have negative effects on eco-efficiency.

  11. Society of Behavioral Medicine (SBM) position statement: restore CDC funding for firearms and gun violence prevention research.

    Science.gov (United States)

    Behrman, Pamela; Redding, Colleen A; Raja, Sheela; Newton, Tamara; Beharie, Nisha; Printz, Destiny

    2018-02-21

    The Society for Behavioral Medicine (SBM) urges restoration of Centers for Disease Control and Prevention (CDC) funding for firearms and gun violence prevention research. Gun violence in the United States is an important and costly public health issue in need of research attention. Unfortunately, there have been no concerted CDC-funded research efforts in this area since 1996, due to the passage of the Dickey Amendment. To remedy the information-gathering restrictions caused by the Dickey Amendment bans, it is recommended that Congress remove 'policy riders' on federal appropriations bills that limit firearms research at the CDC; expand NVDRS firearms-related data collection efforts to include all fifty states; fund CDC research on the risk and protective factors of gun use and gun violence prevention; fund research on evidence-based primary, secondary, and tertiary prevention and treatment initiatives for communities that are seriously impacted by the effects of gun violence; and support the development of evidence-based policy and prevention recommendations for gun use and ownership.

  12. Ambulation in adults with myelomeningocele. Is it possible to predict the level of ambulation in early life?

    DEFF Research Database (Denmark)

    Seitzberg, A.; Lind, M.; Biering-Sørensen, Fin

    2008-01-01

    OBJECTIVE: The objective of this study was to evaluate the prediction of ambulation in adults with myelomeningocele from muscle strength testing and ambulation in early life. MATERIALS AND METHODS: Fifty-two myelomeningocele (MMC) individuals at the age 18-37 years at follow-up were studied....... Information on muscle strength and ambulatory function in early life was retrieved from medical records. The motor levels determined by the muscle strength were used to predict ambulatory function later in life. At follow-up, a clinical examination was performed. RESULTS: Of 20 MMC individuals assessed...... life than predicted. Good strength in quadriceps muscles gave significant better prospect for adult walking. Of the 52 participants, 41 retained their ambulation status from 5-8 years of age. CONCLUSION: For MMC individuals with motor levels L3-L5, adult ambulatory function cannot be determined from...

  13. Changes in muscle activation patterns in response to enhanced sensory input during treadmill stepping in infants born with myelomeningocele

    OpenAIRE

    Pantall, Annette; Teulier, Caroline; Ulrich, Beverly D.

    2012-01-01

    Infants with myelomeningocele (MMC) increase step frequency in response to modifications to the treadmill surface. The aim was to investigate how these modifications impacted the electromyographic (EMG) patterns. We analyzed EMG from 19 infants aged 2–10 months, with MMC at the lumbosacral level. We supported infants upright on the treadmill for 12 trials, each 30 seconds long. Modifications included visual flow, unloading, weights, Velcro and lcriction. Surface electrodes recorded EMG from t...

  14. Urological results after fetal myelomeningocele repair in pre-MOMS trial patients at the Children's Hospital of Philadelphia.

    Science.gov (United States)

    Carr, Michael C

    2015-01-01

    Myelomeningocele patients deal with multiple medical issues, including lower extremity neurological deficits, bowel and bladder incontinence and the sequelae of hydrocephalus secondary to a Chiari II malformation. In utero intervention holds the promise of reversing some of the sequelae and improving outcome. Between 1998 and 2003 (preceding the formal Management of Myelomeningocele Study, MOMS), an initial group of 58 patients underwent in utero repair of their myelomeningocele between 21 and 25 weeks' gestation. Long-term (5-year) follow-up has occurred in this cohort of patients. Previous reports have documented decreased incidence of ventriculoperitoneal shunting and neuromotor functioning, showing improved outcomes compared with historical controls. Overall, 4 fetal deaths occurred, while the majority of patients returned for follow-up for up to 5 years after closure. Phone follow-up has also been conducted for those who could not return. To date, 10 patients (18.5%) have successfully toilet-trained, while 2 patients have bowel continence and 1 has bladder continence but requires enemas; 2 patients who successfully toilet-trained developed spinal dermoid cysts requiring surgical resection. Historically, in utero repair of myelomeningocele patients yields a greater percentage of patients who have achieved continence compared with those undergoing postnatal repair. The MOMS trial will compare contemporary urological outcomes of those patients undergoing either prenatal or postnatal repair in a randomized fashion. The results of this trial showed a decreased need for ventriculoperitoneal shunting in those patients who underwent in utero repair as well as an improvement in lower extremity function. © 2014 S. Karger AG, Basel.

  15. 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...

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

    Science.gov (United States)

    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.

  17. Factors Associated With Pressure Ulcers in Individuals With Spina Bifida

    Science.gov (United States)

    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

  18. Validation of the Samsung SBM-100A and Microlife BP 3BU1-5 wrist blood pressure measuring devices in adults according to the International Protocol.

    Science.gov (United States)

    Altunkan, Sekip; Ilman, Nevzat; Altunkan, Erkan

    2007-04-01

    A variety of automatic blood measurement devices with diverse features have been introduced to the medical markets recently. Among these devices, models that measure at the wrist have become increasingly popular in self measurements. The objective of this study was to evaluate the accuracy of the Samsung SBM-100A and Microlife BP 3BU1-5 wrist blood pressure devices against the mercury sphygmomanometer in adults according to the International Protocol criteria. Fifty-four patients over 30 years of age were studied and classified based on the International Protocol range. Blood pressure measurements at the wrist with the Samsung SBM-100A and Microlife BP 3BU1-5 were compared with the results obtained by two trained observers using a mercury sphygmomanometer. Nine sequential blood pressure measurements were taken. A total of 33 participants with randomly distributed arm circumferences were selected for both of the validation studies. During each validation study, 99 measurements were obtained for comparison from 33 participants. The first phase was performed on 15 participants and if the device passed this phase, 18 more participants were selected. Mean discrepancies and standard deviations of the device-sphygmomanometer were 0.9+/-9.2 and -2.7+/-9.3 mmHg for systolic blood pressure and -1.4+/-8.0 mmHg and 1.4+/-5.7 for diastolic blood pressure in the Samsung and Microlife study groups, respectively. The Samsung SBM-100A passed Phase 1 in 15 participants. Despite the fact that Microlife BP 3BU1-5 passed Phase 1 for diastolic pressure, it failed according to the systolic pressure criteria. Eighteen patients were added and Phase 2 was continued, in which Samsung SBM-100A failed to meet the criteria of Phases 2.1 and 2.2 for adults in systolic and diastolic blood pressure. It was found that the Microlife BP 3BU1-5 does not meet the criteria of either of Phases 2.1 and 2.2 for systolic blood pressure and Phase 2.2 for diastolic blood pressure. In this study, Samsung SBM

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

    Science.gov (United States)

    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)

  20. 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

  1. Prenatal surgery for myelomeningocele and the need for cerebrospinal fluid shunt placement

    Science.gov (United States)

    Tulipan, Noel; Wellons, John C.; Thom, Elizabeth A.; Gupta, Nalin; Sutton, Leslie N.; Burrows, Pamela K.; Farmer, Diana; Walsh, William; Johnson, Mark P.; Rand, Larry; Tolivaisa, Susan; D’Alton, Mary E.; Adzick, N. Scott

    2016-01-01

    Object The Management of Myelomeningocele Study (MOMS) was a multicenter randomized trial comparing the safety and efficacy of prenatal and postnatal closure of myelomeningocele. The trial was stopped early because of the demonstrated efficacy of prenatal surgery, and outcomes on 158 of 183 pregnancies were reported. Here, the authors update the 1-year outcomes for the complete trial, analyze the primary and related outcomes, and evaluate whether specific prerandomization risk factors are associated with prenatal surgery benefit. Methods The primary outcome was a composite of fetal loss or any of the following: infant death, CSF shunt placement, or meeting the prespecified criteria for shunt placement. Primary outcome, actual shunt placement, and shunt revision rates for prenatal versus postnatal repair were compared. The shunt criteria were reassessed to determine which were most concordant with practice, and a new composite outcome was created from the primary outcome by replacing the original criteria for CSF shunt placement with the revised criteria. The authors used logistic regression to estimate whether there were interactions between the type of surgery and known prenatal risk factors (lesion level, gestational age, degree of hindbrain herniation, and ventricle size) for shunt placement, and to determine which factors were associated with shunting among those infants who underwent prenatal surgery. Results Ninety-one women were randomized to prenatal surgery and 92 to postnatal repair. The primary outcome occurred in 73% of infants in the prenatal surgery group and in 98% in the postnatal group (p < 0.0001). Actual rates of shunt placement were only 44% and 84% in the 2 groups, respectively (p < 0.0001). The authors revised the most commonly met criterion to require overt clinical signs of increased intracranial pressure, defined as split sutures, bulging fontanelle, or sunsetting eyes, in addition to increasing head circumference or hydrocephalus. Using

  2. 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

  3. Trajectories of autonomy development across the adolescent transition in children with spina bifida.

    Science.gov (United States)

    Friedman, Deborah; Holmbeck, Grayson N; DeLucia, Christian; Jandasek, Barbara; Zebracki, Kathy

    2009-02-01

    The current study investigated individual growth in autonomy development across the adolescent transition, comparing the trajectories of children with and without spina bifida. Individual growth curve modeling procedures were utilized to describe the developmental course of autonomy across four waves of data collection, from ages 9 to 15, and to test whether illness status [spina bifida vs. matched comparison group (N = 68 for both groups at Time 1)] would significantly predict individual variability in autonomy development. Potential moderators [child gender, SES, and Peabody Picture Vocabulary Test (PPVT) score] of the association between illness status and autonomy development were also examined. Children with spina bifida demonstrated distinct developmental trajectories, though the nature of the group differences varied by type of autonomy development (emotional vs. behavioral), context (i.e. school vs. family), and reporter. Significant interactions with PPVT score and child gender were found. Overall, children with spina bifida show considerable developmental resiliency, but may lag behind their peers in specific areas of autonomy. Boys with spina bifida, and children with spina bifida who have lower than average levels of verbal intelligence, appear to be at greater risk for exhibiting delays in autonomy development.

  4. Problematic psychosocial adaptation and executive dysfunction in women and men with myelomeningocele.

    Science.gov (United States)

    Stubberud, Jan; Riemer, Gunnar

    2012-01-01

    Myelomeningocele (MMC) is caused by incomplete neural tube development, affecting physical, cognitive and adaptive functioning. The aim of this study was to characterize women and men with problematic psychosocial adaptation with respect to cognitive functions and psychological symptoms. It was expected that cognitive functions, especially the executive functions, were mostly impaired. In addition, the clinical history, the neurological and the psychological functioning was investigated. Twelve participants (six men, six women; age range 24-41 years) with MMC were recruited from TRS National Resource Centre for Rare Disorders. Inclusion criteria were (1) uncompleted upper secondary school, (2) unemployment and (3) lack of social relationships. The participants underwent a systematic clinical history, a clinical neurological examination, a neuropsychological assessment and questionnaires regarding cognitive and psychological functioning. All participants had major neurological deficits and most of them had hydrocephalus and Chiari-II malformation. Cognitive deficits were present in a range of domains, especially the executive functions. The neuropsychological findings showed no obvious difference between men and women. Symptoms of psychopathology were more pronounced in women. The men were less capable to structure daily living. The neuropsychological findings disclosed that the executive functions were most impaired. Future research should be directed towards cognitive rehabilitation.

  5. Quality of life and myelomeningocele: an ethical and evidence-based analysis of the Groningen Protocol.

    Science.gov (United States)

    Barry, Sean

    2010-01-01

    In 2005, a group of pediatricians at the University Medical Center in Groningen, The Netherlands, published the Groningen Protocol (GP) for Euthanasia in Newborns. This protocol is a set of guidelines devised in 2001 to clarify and facilitate the assessment of clinically stable neonates deemed to be in unbearable suffering for whom the prognosis is felt to be hopeless. At the time of publication, the GP had been in use for 7 years, and 22 patients, all with diagnosed myelomeningocele (MMC), had met the selection criteria for euthanasia by lethal injection. MMC is the most common neurological congenital anomaly, affecting approximately 300,000 newborns yearly worldwide. Neurosurgeons have a unique perspective on this disease and therefore an important voice, given the significant role they have in caring for these patients at all stages of their lives. This paper reviews the principal ethical arguments presented to date in the literature regarding the GP. It also provides an evidence-based critique of the GP in light of quality-of-life studies addressing adults with MMC, and ascertains whether or not the GP meets the criteria for an evidence-based guideline. Copyright © 2011 S. Karger AG, Basel.

  6. A characteristic ventricular shape in myelomeningocele-associated hydrocephalus? A CT stereology study

    International Nuclear Information System (INIS)

    Roost, D. van; Solymosi, L.; Funke, K.

    1995-01-01

    We measured the volume of the supratentorial ventricles in 39 consecutive children with myelomeningocele (MMC) and associated hydrocephalus, using a stereological method based on the Cavalieri theorem of systematic sampling. We distinguished the following groups: newborns before and after cerebrospinal fluid shunting (14), a somewhat larger group of newborns with an untreated MMC-associated hydrocephalus (25) and a group of shunted children at a mean age of 1.5 years (28). We paid special attention to the shape of the lateral ventricles, looking separately at the anterior and posterior halves. The measurements were compared with a healthy control group (10) and with children with hydrocephalus unrelated to MMC (15). The average volume ratio of the posterior to the anterior half of the lateral ventricles was 1.05 ± 0.39 in non-hydrocephalic children, 1.11 ± 0.55 in untreated hydrocephalic children without MMC, and 2.15 ± 0.65 in MMC-associated hydrocephalus prior to shunting. These ratios did not change significantly after shunting. This confirms our impression that MMC-associated hydrocephalus shows a characteristic shape, with a disproportionate enlargement of the posterior part of the lateral ventricles, in clear contrast to the normal-width frontal horns. This shape is reminiscent of the fetal ventricular shape. It reveals disturbance of brain development in children with MMC, which goes beyond the classic description of the Chiari malformation. (orig.)

  7. Trends in epidemiology and hospitalization utilization for myelomeningocele repair from 2000 to 2009.

    Science.gov (United States)

    Harris, Dominic A; Cherian, Jacob; LoPresti, Melissa; Jea, Andrew; Lam, Sandi

    2016-07-01

    Although the incidence of myelomeningocele (MMC) has declined over the past decades with folic acid supplementation and prenatal screening, neural tube defects remain the most common birth defect in the USA. A majority of affected neonates require surgical repair. To characterize US trends in the epidemiology and hospital utilization of MMC repair over the past decade, we analyzed a nationally representative database. We queried the Healthcare Cost and Utilization Project (HCUP) Kid's Inpatient Database (KID) for all discharges with procedure code for MMC repair for the years 2000, 2003, 2006, and 2009. The cohorts from these time points were compared for their demographic and in-hospital variables. Results are reported as estimated frequencies and means with 95 % confidence intervals (CI). Sex, race, insurance status, family income level, and mortality of affected infants have not changed significantly over the decade. A majority of neonatal MMC repairs occur in larger hospital bed size and more specialized children's hospital centers. Of patients, 52.3 to 60 % receive VPS placement during the same admission as the primary MMC repair. Total hospital costs for the MMC hospitalizations have remained relatively stable from 42,843 dollars in 2003 to 46,749 dollars in 2009 (adjusted to 2009 dollars). Demographics of children having MMC repair have not changed significantly over the past decade, while these surgeries have become more concentrated in pediatric-specialized centers. There appears to be a plateau in public health and access advances with relatively stable cost of MMC hospital care.

  8. Lethal Consequences in an Infant with Myelomeningocele Following an Inadvertent Treatment

    Directory of Open Access Journals (Sweden)

    Xuemei Wu

    2016-01-01

    Full Text Available Myelomeningocele (MMC is a protrusion of spinal cord contents and meninges through a vertebral defect. Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice. In our case, a 3-month-old female was born with a lumbosacral cyst, the size of which had been increasing gradually over age. There was no neurological, orthopedic, or urologic dysfunction. On the day of her death, she received a repetitive and rapid lumbosacral cyst puncture drainage procedure, performed by an illegal medical practitioner. Postmortem autopsy findings confirmed a diagnosis of MMC and the cause of death to be cerebellar tonsillar herniation. This is a pathetic case of preventable infant death. This report suggests that the possibility of MMC should be considered in infants born with a lumbosacral cyst, and aspiration is inadvisable. Besides, forensic autopsy has a valuable role in determining the exact cause of death, identifying, or excluding iatrogenic factors that may be relevant to death following a medical procedure. A final point is that prevention programs should be developed, especially by the health care sectors to reduce such tragedy.

  9. Surrogate Pregnancy After Prenatal Diagnosis of Spina Bifida.

    Science.gov (United States)

    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.

  10. 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.

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

    Science.gov (United States)

    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.

  12. Spinal level of myelomeningocele lesion as a contributing factor in posterior fossa volume, intracranial cerebellar volume, and cerebellar ectopia.

    LENUS (Irish Health Repository)

    Sweeney, Kieron J

    2013-02-01

    McLone and Knepper\\'s unified theory of Chiari malformation Type II (CM-II) describes how the loss of CSF via the open posterior neuropore fails to create adequate distending pressure for the developing rhomboencephalic vesicle. The authors of the present article describe the relationship between the posterior fossa volume and intracranial cerebellar volume as being related to the distance from the obex of the fourth ventricle to the myelomeningocele lesion using a common mathematical model, the Hagen-Poiseuille law.

  13. 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

  14. 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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  17. Evaluate and Analysis Efficiency of Safaga Port Using DEA-CCR, BCC and SBM Models-Comparison with DP World Sokhna

    Science.gov (United States)

    Elsayed, Ayman; Shabaan Khalil, Nabil

    2017-10-01

    The competition among maritime ports is increasing continuously; the main purpose of Safaga port is to become the best option for companies to carry out their trading activities, particularly importing and exporting The main objective of this research is to evaluate and analyze factors that may significantly affect the levels of Safaga port efficiency in Egypt (particularly the infrastructural capacity). The assessment of such efficiency is a task that must play an important role in the management of Safaga port in order to improve the possibility of development and success in commercial activities. Drawing on Data Envelopment Analysis(DEA)models, this paper develops a manner of assessing the comparative efficiency of Safaga port in Egypt during the study period 2004-2013. Previous research for port efficiencies measurement usually using radial DEA models (DEA-CCR), (DEA-BCC), but not using non radial DEA model. The research applying radial - output oriented (DEA-CCR), (DEA-BCC) and non-radial (DEA-SBM) model with ten inputs and four outputs. The results were obtained from the analysis input and output variables based on DEA-CCR, DEA-BCC and SBM models, by software Max DEA Pro 6.3. DP World Sokhna port higher efficiency for all outputs were compared to Safaga port. DP World Sokhna position is below the southern entrance to the Suez Canal, on the Red Sea, Egypt, makes it strategically located to handle cargo transiting through one of the world's busiest commercial waterways.

  18. Modification of the gasless fetoscopy technique for the treatment of large myelomeningocele: a study in sheep

    Directory of Open Access Journals (Sweden)

    Denise Araujo Lapa Pedreira

    2010-03-01

    Full Text Available Objective: To change the gasless fetoscopy technique in order to reduce the diameter of entry orifices in the myometrium. Methods: Seven pregnant ewes were submitted to fetoscopy for repairing a large skin defect measuring 4.0 x 3.0 cm, created in the fetal lumbar region at the gestational age of 100 days. The defect was repaired through continuous suture of the skin with approximation of borders. Gasless fetoscopy was used for performing the suture with three orifices to allow entry of the trocar into the myometrium. A 5.0-mm optical trocar, and 3.5-mm grasping, dissecting and suturing forceps were used. After surgery, pregnancy was maintained until the animals were euthanized on the 133rd day of gestation, and the fetuses were evaluated. Results: Seven pregnant ewes underwent surgery; the first two cases were characterized as the Pilot Group, in which the endoscopic technique was modified and caliber reduction was possible in two out of three entry orifices in the myometrium. In the five remaining cases (Study Group, the repair was successfully carried out in all the fetuses, and the mean duration of fetoscopy was 98 minutes. There was a case of maternal death attributed to intrauterine infection. Mean intrauterine permanence after surgery was 12 days. Conclusions: The technique was successfully modified, allowing reduction of the uterine orifices necessary to perform the repair of a skin defect in the fetal lumbar region through a new fetoscopy technique. The impact of this modification in repair of myelomeningocele in human fetuses should be studied.

  19. Risk factors for pressure sores in adult patients with myelomeningocele – a questionnaire-based study

    Science.gov (United States)

    Plaum, Pål-Erik; Riemer, Gunnar; Frøslie, Kathrine Frey

    2006-01-01

    Background Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. Methods A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Results Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. Conclusion Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment. PMID:17196099

  20. Risk factors for pressure sores in adult patients with myelomeningocele--a questionnaire-based study.

    Science.gov (United States)

    Plaum, Pål-Erik; Riemer, Gunnar; Frøslie, Kathrine Frey

    2006-12-29

    Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment.

  1. Risk factors for pressure sores in adult patients with myelomeningocele – a questionnaire-based study

    Directory of Open Access Journals (Sweden)

    Frøslie Kathrine

    2006-12-01

    Full Text Available Abstract Background Myelomeningocele (MMC is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. Methods A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Results Out of 193 total, 87 patients participated and 71 patients (82% reported sores; 26 (30% at the time of the interview and 45 (52% during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02, Arnold Chiari malformation (p = 0.02 and a record of previous sores (p = 0.004. Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21% reported skin inspection by others and the remainder relied on self-inspection. Conclusion Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment.

  2. Bladder changes after several coverage modalities in the surgically induced model of myelomeningocele in lambs.

    Science.gov (United States)

    Burgos, L; Encinas, J L; García-Cabezas, M Á; Peiró, J L; López-Santamaría, M; Jaureguízar, E

    2014-01-01

    To assess the presence of early bladder abnormalities in a prenatally corrected and uncorrected animal model of Myelomeningocele (MMC). A MMC-like lesion was surgically created in 18 fetal lambs between the 60th and the 80th day of gestation. Eight of them did not undergo fetal repair (group A), three were repaired with an open two-layer closure (group B), three using BioGlue® (groupC) and four fetoscopically (group D). At term, bladders were examined macroscopically and histopathological changes were assessed using H-E and Masson Trichrome. Five animals in group A (5/8, 62%), two in group B (2/3, 66%), one in group C (1/3, 33%) and one in group D (1/4, 25%) survived. Macroscopically bladders in group A were severely dilated and showed thinner walls. Microscopically they showed a thin layer of colagenous tissue (Blue layer. BL) lying immediately subjacent to the urothelium. The muscular layers were thinner. Non compliant pattern with thick wall and low capacity was also found in the non corrected model. Group B and the control showed preservation of muscular layers and absence of BL. Groups C and D presented BL but also preservation of muscular layers. Bladder changes in a surgically-induced model of MMC can be described using histopathological data. Both extremes of bladder changes can be observed in the model. These changes were completely prevented with open fetal surgery and partially with other coverage modalities. Copyright © 2013 AEU. Published by Elsevier Espana. All rights reserved.

  3. Health care expenditures of children and adults with spina bifida in a privately insured U.S. population.

    Science.gov (United States)

    Ouyang, Lijing; Grosse, Scott D; Armour, Brian S; Waitzman, Norman J

    2007-07-01

    We provide new estimates of medical care utilization and expenditures over the lifespan for persons living with spina bifida in the United States. Updated estimates are essential for calculations of lifetime costs and for economic evaluations of prevention and management strategies for spina bifida. We analyzed data from the 2001-2003 MarketScan database on paid medical and prescription drug claims of persons covered by employer-sponsored health insurance in the United States. Medical care utilization and expenditures during 2003 were analyzed for persons with a diagnosis of spina bifida recorded during 2001-2003 who had 12 months of coverage in a fee-for-service health plan. To calculate expenditures during infancy, a separate analysis was performed for those born during 2002 with claims and expenditures data during the first 12 months of life. We compared medical expenditures for persons with and without spina bifida by age groups. Average incremental medical expenditures comparing patients with spina bifida and those without were $41,460 per year at age 0, $14,070 at ages 1-17, $13,339 at ages 18-44, and $10,134 at ages 45-64. Children ages 1-17 years with spina bifida had average medical expenditures 13 times greater than children without spina bifida. Adults with spina bifida had average medical expenditures three to six times greater than adults without spina bifida in this privately insured population. Although per capita medical care utilization and expenditures are highest among children, adults constitute an important and growing share of the population living with spina bifida. (c) 2007 Wiley-Liss, Inc.

  4. Fasting serum blood measures of bone and lipid metabolism in children with myelomeningocele for early detection of cardiovascular and bone fragility risk factors.

    Science.gov (United States)

    Van Speybroeck, Alexander; Mueske, Nicole M; Mittelman, Steven D; Kremer, Richard K; Ryan, Deirdre D; Wren, Tishya A L

    2017-03-01

    This study examined serum levels in children with myelomeningocele to identify the prevalence of pre-clinical signs of disease. A prospective, cross-sectional study. Patients were actively recruited from multidisciplinary care clinics at tertiary children's hospitals from 2010-2012. The control comparison group was recruited by word-of-mouth. Twenty-eight children with myelomeningocele (93% Hispanic; 17 males; 10.0 ± 2.1 years) and 58 controls (84% Hispanic; 30 males; 10.4 ± 2.4 years) provided ≥ 8-hour fasting blood samples with concomitant dual-energy x-ray absorptiometry measurements of body fat. Not applicable. The serum analysis included a lipid panel (cholesterol, triglycerides, high-density lipoprotein, low-density lipoprotein), insulin, glucose, leptin, aspartate aminotransferase, alanine transaminase, alkaline phosphatase, albumin, creatinine, calcium, phosphatase, parathyroid hormone, and vitamin D. Children with myelomeningocele had higher body fat (35.2% versus 29.9%, p=0.01) and altered lipid profiles (lower high-density lipoprotein levels, 43.9 mg/dL versus 51.6 mg/dL, P = 0.03) suggesting elevated risk of metabolic syndrome. They also had a higher prevalence of vitamin D deficiency (43% versus 17%, p=0.02) and significantly lower levels of calcium (9.4 mg/dL versus 9.7 mg/dL, P = 0.003) and alkaline phosphatase (187.0 U/L versus 237.0 U/L, P = 0.003). Unexpectedly children with myelomeningocele had lower parathyroid hormone levels (14.5 pg/mL versus 18.4 pg/mL, P = 0.02) than controls despite lower calcium, vitamin D and alkaline phosphatase levels. This suggests an alteration in the sensing mechanism or response of the parathyroid gland to normal physiological stimuli in patients with myelomeningocele. Children with myelomeningocele have abnormal biochemical markers for cardiovascular disease, insulin resistance and bone and mineral metabolism. Early recognition and monitoring of these risk factors in patients with

  5. Changes in muscle activation patterns in response to enhanced sensory input during treadmill stepping in infants born with myelomeningocele.

    Science.gov (United States)

    Pantall, Annette; Teulier, Caroline; Ulrich, Beverly D

    2012-12-01

    Infants with myelomeningocele (MMC) increase step frequency in response to modifications to the treadmill surface. The aim was to investigate how these modifications impacted the electromyographic (EMG) patterns. We analyzed EMG from 19 infants aged 2-10 months, with MMC at the lumbosacral level. We supported infants upright on the treadmill for 12 trials, each 30 seconds long. Modifications included visual flow, unloading, weights, Velcro and lcriction. Surface electrodes recorded EMG from tibialis anterior, lateral gastrocnemius, rectus femoris and biceps femoris. We determined muscle bursts for each stride cycle and from these calculated various parameters. Results indicated that each of the five sensory conditions generated different motor patterns. Visual flow and friction which we previously reported increased step frequency impacted lateral gastrocnemius most. Weights, which significantly decreased step frequency increased burst duration and co-activity of the proximal muscles. We also observed an age effect, with all conditions increasing muscle activity in younger infants whereas in older infants visual flow and unloading stimulated most activity. In conclusion, we have demonstrated that infants with myelomeningocele at levels which impact the myotomes of major locomotor muscles find ways to respond and adapt their motor output to changes in sensory input. Copyright © 2012 Elsevier B.V. All rights reserved.

  6. Pilot study in neonates using low-level laser therapy in the immediate postoperative period of myelomeningocele

    Directory of Open Access Journals (Sweden)

    Nathali Cordeiro Pinto

    2010-03-01

    Full Text Available Objective: To analyze the tissue repair behavior after corrective surgical incision in neonates submitted to low-level laser therapy, in an attempt to diminish the incidence of postoperative dehiscence following the surgery for myelomeningocele performed immediately after birth. Methods: It is a prospective pilot study with 13 myelomeningocele patients submitted to surgery at birth who received adjuvant treatment with low-level laser therapy (Group A. Diode laser C.W., λ = 685t nm, p = 21 mW, E = 0.19 J was punctually applied along the surgical incision, summing up 4 to 10 J energy delivered per patient, according to the surgical wound area and, then, compared with the previous results, which were obtained from 23 patients undergoing surgery without laser therapy (Group B. Results: This pilot study showed a significant decline in dehiscence of surgical wounds in neonates submitted to low-level laser therapy as compared to controls (7.69 versus 17.39%, respectively, demonstrating this is an effective, safe and noninvasive treatment method. Conclusion: This new adjuvant therapeutic proposal with low-level laser therapy aided healing of surgical wounds, preventing morbidities, as well as decreasing hospital stay, which implies cost of reduction for patients and for the institution.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. Levels of Cd, Cu, Pb and V in marine sediments in the vicinity of the Single Buoy Moorings (SBM3) at Mina Al Fahal in the Sultanate of Oman.

    Science.gov (United States)

    Al-Husaini, Issa; Abdul-Wahab, Sabah; Ahamad, Rahmalan; Chan, Keziah

    2014-06-15

    Recently in the Sultanate of Oman, there has been a rapid surge of coastal developments. These developments cause metal contamination, which may affect the habitats and communities at and near the coastal region. As a result, a study was conducted to assess the level of metal contamination and its impact on the marine sediments in the vicinity of the Single Buoy Moorings 3 (SBM3) at Mina Al Fahal in the Sultanate of Oman. Marine subtidal sediment samples were collected from six different stations of the SBM3 for the period ranging from June 2009 to April 2010. These samples were then analyzed for their level and distribution of the heavy metals of cadmium (Cd), copper (Cu), lead (Pb) and vanadium (V). Overall, low concentrations of all four heavy metals were measured from the marine sediments, indicating that the marine at SBM3 is of good quality. Copyright © 2014 Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  11. Motor contingency learning and infants with Spina Bifida.

    Science.gov (United States)

    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.

  12. Daily time management in children with spina bifida.

    Science.gov (United States)

    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.

  13. Long-term influence of multiple heat extraction bore-holes; programme 3-D FRACTure and comparison with a g-function calculated with the SBM programme

    Energy Technology Data Exchange (ETDEWEB)

    Brenni, R.; Kohl, Th. [Eidgenoessische Technische Hochschule (ETH), Institut fuer Geophysik, Hoenggerberg (Switzerland); Pahud, D. [Scuola universitaria professionale della Svizzera italiana (SUPSI), Dipartimento delle costruzioni e del territorio (DCT), Laboratorio di energia, ecologia ed economia LEEE, Canobbio (Switzerland)

    2001-07-01

    For typical bore-hole heat exchangers (length of about 100 m), the long-term influence of neighbouring bore-hole heat exchangers normally appears after several years of operation, and approaches asymptotically a stationary state. Depending on the number of bore-holes involved, it may take from several tens up to several hundred of years before the magnitude of the influence stabilises. Under these conditions it is difficult to collect measurements of thermally interacting bore-hole heat exchangers. However, there is a need to be able to answer the question of the long-term influence of neighbouring borehole heat exchangers, as this situation is supposed to occur more often in the future, as the number of ground-coupled heat pump systems (GCHP system) steadily increases with time. This topic needs also to be studied if themes such as 'neighbour rights' or sustainability related to GCHP system are discussed. This report is focused on the first phase of the project, whose objective is to check the g-function calculation with a more detailed programme. Three bore-holes on an equilateral triangle is the borehole configuration chosen for the comparison between the two computer programmes FRACTure and SBM. SBM is used in the g-function mode, in order to test the concept of g-function against the more detailed programme FRACTure. The agreement between the results obtained with the two programmes indicates that for typical 100 m deep bore-holes the g-function analysis provides fast and sufficiently accurate results. (author)

  14. Awakening sleeping beauty: production of propionic acid in Escherichia coli through the sbm operon requires the activity of a methylmalonyl-CoA epimerase.

    Science.gov (United States)

    Gonzalez-Garcia, Ricardo Axayacatl; McCubbin, Tim; Wille, Annalena; Plan, Manuel; Nielsen, Lars Keld; Marcellin, Esteban

    2017-07-17

    Propionic acid is used primarily as a food preservative with smaller applications as a chemical building block for the production of many products including fabrics, cosmetics, drugs, and plastics. Biological production using propionibacteria would be competitive against chemical production through hydrocarboxylation of ethylene if native producers could be engineered to reach near-theoretical yield and good productivity. Unfortunately, engineering propionibacteria has proven very challenging. It has been suggested that activation of the sleeping beauty operon in Escherichia coli is sufficient to achieve propionic acid production. Optimising E. coli production should be much easier than engineering propionibacteria if tolerance issues can be addressed. Propionic acid is produced in E. coli via the sleeping beauty mutase operon under anaerobic conditions in rich medium via amino acid degradation. We observed that the sbm operon enhances amino acids degradation to propionic acid and allows E. coli to degrade isoleucine. However, we show here that the operon lacks an epimerase reaction that enables propionic acid production in minimal medium containing glucose as the sole carbon source. Production from glucose can be restored by engineering the system with a methylmalonyl-CoA epimerase from Propionibacterium acidipropionici (0.23 ± 0.02 mM). 1-Propanol production was also detected from the promiscuous activity of the native alcohol dehydrogenase (AdhE). We also show that aerobic conditions are favourable for propionic acid production. Finally, we increase titre 65 times using a combination of promoter engineering and process optimisation. The native sbm operon encodes an incomplete pathway. Production of propionic acid from glucose as sole carbon source is possible when the pathway is complemented with a methylmalonyl-CoA epimerase. Although propionic acid via the restored succinate dissimilation pathway is considered a fermentative process, the engineered pathway

  15. 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...

  16. Prenatal folic acid use associated with decreased risk of myelomeningocele: A case-control study offers further support for folic acid fortification in Bangladesh.

    Science.gov (United States)

    Kancherla, Vijaya; Ibne Hasan, Md Omar Sharif; Hamid, Rezina; Paul, Ligi; Selhub, Jacob; Oakley, Godfrey; Quamruzzaman, Quazi; Mazumdar, Maitreyi

    2017-01-01

    Neural tube defects contribute to severe morbidity and mortality in children and adults; however, they are largely preventable through maternal intake of folic acid before and during early pregnancy. We examined the association between maternal prenatal folic acid supplement intake and risk of myelomeningocele (a severe and common type of neural tube defect) in the offspring. We performed secondary analysis using data from a case-control study conducted at Dhaka Community Hospital, Bangladesh between April and November of 2013. Cases and controls included children with and without myelomeningocele, respectively, and their mothers. Cases were identified from local hospitals and rural health clinics served by Dhaka Community Hospital. Controls were selected from pregnancy registries located in the same region as the cases, and matched (1:1) to cases by age and sex. Myelomeningocele in the offspring was confirmed by a pediatrician with expertise in classifying neural tube defects. Maternal prenatal folic acid supplement intake was the main exposure of interest. We estimated crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) using conditional logistic regression analysis. There were 53 pairs of matched cases and controls in our study. Overall, 51% of case mothers reported using folic acid supplements during pregnancy compared to 72% of control mothers (p = 0.03). Median plasma folate concentrations at the time of study visit were 2.79 ng/mL and 2.86 ng/mL among case and control mothers, respectively (p = 0.85). Maternal prenatal folic acid use significantly decreased the odds of myelomeningocele in the offspring (unadjusted OR = 0.42, 95% CI = 0.18-0.96). The association was slightly attenuated after adjusting for maternal age at the time of pregnancy (adjusted OR = 0.43, 95% CI = 0.18-1.02). Our study confirms the protective association between maternal prenatal folic acid supplement use and myelomeningocele among children born in Bangladesh. Our

  17. Prenatal folic acid use associated with decreased risk of myelomeningocele: A case-control study offers further support for folic acid fortification in Bangladesh.

    Directory of Open Access Journals (Sweden)

    Vijaya Kancherla

    Full Text Available Neural tube defects contribute to severe morbidity and mortality in children and adults; however, they are largely preventable through maternal intake of folic acid before and during early pregnancy. We examined the association between maternal prenatal folic acid supplement intake and risk of myelomeningocele (a severe and common type of neural tube defect in the offspring. We performed secondary analysis using data from a case-control study conducted at Dhaka Community Hospital, Bangladesh between April and November of 2013. Cases and controls included children with and without myelomeningocele, respectively, and their mothers. Cases were identified from local hospitals and rural health clinics served by Dhaka Community Hospital. Controls were selected from pregnancy registries located in the same region as the cases, and matched (1:1 to cases by age and sex. Myelomeningocele in the offspring was confirmed by a pediatrician with expertise in classifying neural tube defects. Maternal prenatal folic acid supplement intake was the main exposure of interest. We estimated crude and adjusted odds ratios (OR and 95% confidence intervals (CI using conditional logistic regression analysis. There were 53 pairs of matched cases and controls in our study. Overall, 51% of case mothers reported using folic acid supplements during pregnancy compared to 72% of control mothers (p = 0.03. Median plasma folate concentrations at the time of study visit were 2.79 ng/mL and 2.86 ng/mL among case and control mothers, respectively (p = 0.85. Maternal prenatal folic acid use significantly decreased the odds of myelomeningocele in the offspring (unadjusted OR = 0.42, 95% CI = 0.18-0.96. The association was slightly attenuated after adjusting for maternal age at the time of pregnancy (adjusted OR = 0.43, 95% CI = 0.18-1.02. Our study confirms the protective association between maternal prenatal folic acid supplement use and myelomeningocele among children born in

  18. Fetal Therapy Model of Myelomeningocele with Three-Dimensional Skin Using Amniotic Fluid Cell-Derived Induced Pluripotent Stem Cells

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    Kazuhiro Kajiwara

    2017-06-01

    Full Text Available Myelomeningocele (MMC is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth, and no effective treatment has been reported to date. Only surgical repairs have been reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs generated from a patient with Down syndrome (AF-T21-iPSCs and twin-twin transfusion syndrome (AF-TTTS-iPSCs to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I. For generation of epidermis, we developed a protocol using Y-27632 and epidermal growth factor. The artificial skin was successfully covered over MMC defect sites during pregnancy, implying a possible antenatal surgical treatment with iPSC technology.

  19. 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

  20. 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

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

    Science.gov (United States)

    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.

  2. 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

  3. 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.

  4. 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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  7. 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

  8. 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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  11. 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

  12. 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.

  13. 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

  14. Levels of Cd, Cu, Pb and V in marine sediments in the vicinity of the Single Buoy Moorings (SBM3) at Mina Al Fahal in the Sultanate of Oman

    International Nuclear Information System (INIS)

    Al-Husaini, Issa; Abdul-Wahab, Sabah; Ahamad, Rahmalan; Chan, Keziah

    2014-01-01

    Highlights: • Assessed metal contamination in the SBM3 marine sediments of Mina Al Fahal, Oman. • Examined heavy metal concentration levels of Cd, Cu, Pb and V. • Mean concentration in the sediments, from highest to lowest, is V > Cu > Pb > Cd. • Highest concentration of V due to waste discharges from nearby heavy tanker traffic. • ICP-OES found low concentrations of all four heavy metals; SMB3 region in good quality. - Abstract: Recently in the Sultanate of Oman, there has been a rapid surge of coastal developments. These developments cause metal contamination, which may affect the habitats and communities at and near the coastal region. As a result, a study was conducted to assess the level of metal contamination and its impact on the marine sediments in the vicinity of the Single Buoy Moorings 3 (SBM3) at Mina Al Fahal in the Sultanate of Oman. Marine subtidal sediment samples were collected from six different stations of the SBM3 for the period ranging from June 2009 to April 2010. These samples were then analyzed for their level and distribution of the heavy metals of cadmium (Cd), copper (Cu), lead (Pb) and vanadium (V). Overall, low concentrations of all four heavy metals were measured from the marine sediments, indicating that the marine at SBM3 is of good quality

  15. 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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  18. 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.

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

    Science.gov (United States)

    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.

  20. 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

  1. 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

  2. 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.

  3. Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile

    Science.gov (United States)

    Suazo, José; Castillo, Silvia; Martin, Luz Maria; Rojas, Francisca; Santos, José Luis; Rotter, Karin; Solar, Margarita; Tapia, Eva

    2013-01-01

    Obese/diabetic mothers present a higher risk to develop offspring with myelomeningocele (MM), evidence supporting the role of energy homeostasis-related genes in neural tube defects. Using polymerase chain reaction–restriction fragment length polymorphism, we have genotyped SLC2A1, HK1, and LEPR single-nucleotide polymorphisms in 105 Chilean patients with MM and their parents in order to evaluate allele–phenotype associations by means of allele/haplotype transmission test (TDT) and parent-of-origin effects. We detected an undertransmission for the SLC2A1 haplotype T-A (rs710218-rs2229682; P = .040), which was not significant when only lower MM (90% of the cases) was analyzed. In addition, the leptin receptor rs1137100 G allele showed a significant increase in the risk of MM for maternal-derived alleles in the whole sample (2.43-fold; P = .038) and in lower MM (3.20-fold; P = .014). Our results support the role of genes involved in energy homeostasis in the risk of developing MM, thus sustaining the hypothesis of diverse pathways and genetic mechanisms acting in the expression of such birth defect. PMID:23427181

  4. Fetal Therapy Model of Myelomeningocele with Three-Dimensional Skin Using Amniotic Fluid Cell-Derived Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Kajiwara, Kazuhiro; Tanemoto, Tomohiro; Wada, Seiji; Karibe, Jurii; Ihara, Norimasa; Ikemoto, Yu; Kawasaki, Tomoyuki; Oishi, Yoshie; Samura, Osamu; Okamura, Kohji; Takada, Shuji; Akutsu, Hidenori; Sago, Haruhiko; Okamoto, Aikou; Umezawa, Akihiro

    2017-06-06

    Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth, and no effective treatment has been reported to date. Only surgical repairs have been reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I. For generation of epidermis, we developed a protocol using Y-27632 and epidermal growth factor. The artificial skin was successfully covered over MMC defect sites during pregnancy, implying a possible antenatal surgical treatment with iPSC technology. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    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

  9. 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.

  10. 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.)

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

    Directory of Open Access Journals (Sweden)

    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

  12. 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:

  13. 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

  14. 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

  15. 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:

  16. 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:

  17. 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

  18. 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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  2. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

    Directory of Open Access Journals (Sweden)

    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

  3. Spinal column shortening for tethered cord syndrome associated with myelomeningocele, lumbosacral lipoma, and lipomyelomeningocele in children and young adults.

    Science.gov (United States)

    Aldave, Guillermo; Hansen, Daniel; Hwang, Steven W; Moreno, Amee; Briceño, Valentina; Jea, Andrew

    2017-06-01

    OBJECTIVE Tethered cord syndrome is the clinical manifestation of an abnormal stretch on the spinal cord, presumably causing mechanical injury, a compromised blood supply, and altered spinal cord metabolism. Tethered cord release is the standard treatment for tethered cord syndrome. However, direct untethering of the spinal cord carries potential risks, such as new neurological deficits from spinal cord injury, a CSF leak from opening the dura, and retethering of the spinal cord from normal scar formation after surgery. To avoid these risks, the authors applied spinal column shortening to children and transitional adults with primary and secondary tethered cord syndrome and report treatment outcomes. The authors' aim with this study was to determine the safety and efficacy of spinal column shortening for tethered cord syndrome by analyzing their experience with this surgical technique. METHODS The authors retrospectively reviewed the demographic and procedural data of children and young adults who had undergone spinal column shortening for primary or secondary tethered cord syndrome. RESULTS Seven patients with tethered cord syndrome caused by myelomeningocele, lipomyelomeningocele, and transitional spinal lipoma were treated with spinal column shortening. One patient with less than 24 months of follow-up was excluded from further analysis. There were 3 males and 4 females; the average age at the time was surgery was 16 years (range 8-30 years). Clinical presentations for our patients included pain (in 5 patients), weakness (in 4 patients), and bowel/bladder dysfunction (in 4 patients). Spinal column osteotomy was most commonly performed at the L-1 level, with fusion between T-12 and L-2 using a pedicle screw-rod construct. Pedicle subtraction osteotomy was performed in 6 patients, and vertebral column resection was performed in 1 patient. The average follow-up period was 31 months (range 26-37 months). Computed tomography-based radiographic outcomes showed solid

  4. 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...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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

  12. 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.

  13. Longitudinal mediators of achievement in mathematics and reading in typical and atypical development.

    Science.gov (United States)

    Barnes, Marcia A; Raghubar, Kimberly P; English, Lianne; Williams, Jeffrey M; Taylor, Heather; Landry, Susan

    2014-03-01

    Longitudinal studies of neurodevelopmental disorders that are diagnosed at or before birth and are associated with specific learning difficulties at school-age provide one method for investigating developmental precursors of later-emerging academic disabilities. Spina bifida myelomeningocele (SBM) is a neurodevelopmental disorder associated with particular problems in mathematics, in contrast to well-developed word reading. Children with SBM (n=30) and typically developing children (n=35) were used to determine whether cognitive abilities measured at 36 and 60 months of age mediated the effect of group on mathematical and reading achievement outcomes at 8.5 and 9.5 years of age. A series of multiple mediator models showed that: visual-spatial working memory at 36 months and phonological awareness at 60 months partially mediated the effect of group on math calculations, phonological awareness partially mediated the effect of group on small addition and subtraction problems on a test of math fluency, and visual-spatial working memory mediated the effect of group on a test of math problem solving. Groups did not differ on word reading, and phonological awareness was the only mediator for reading fluency and reading comprehension. The findings are discussed with reference to theories of mathematical development and disability and with respect to both common and differing cognitive correlates of math and reading. Copyright © 2013 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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.

  15. 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 ...

  16. 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. ...

  17. Intrauterine myelomeningocele repair postnatal results and follow-up at 3.5 years of age--initial experience from a single reference service in Brazil.

    Science.gov (United States)

    Hisaba, Wagner Jou; Cavalheiro, Sérgio; Almodim, Carlos Gilberto; Borges, Carolina Peixoto; de Faria, Tereza Cristina Carbonari; Araujo Júnior, Edward; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes

    2012-03-01

    Present the outcomes of six cases submitted to intrauterine myelomeningocele (MMC) repair. Descriptive observational study of six children submitted to antenatal surgical repair of MMC between 26 and 27 weeks gestation. All deliveries were through cesarean section. The following neonatal variables were assessed: gestational age at delivery, birth weight, Apgar scores, need for intubation, duration of hospital stay and need for postnatal shunt procedures. After 3.5 years, the children were evaluated using the Columbia Mental Maturity Scale or Denver II tests and the Hoffer Ambulation Scale. All deliveries were preterm at a mean gestational age of 32 + 4 weeks and mean birth weight was 1,942 g. Two infants had Apgar scores <7 at 1 min and 1 at 5 min. Ventricular-peritoneal shunts were placed in two cases. All six children are alive: five have normal cognitive development and one has a neuropsychomotor developmental delay. Two children had normal leg movements, a sacral functional level and are community ambulators. Three children had upper lumbar anatomical level lesions and one had a lower thoracic level lesion at the time of fetal surgery. One child, with an L1-L2 anatomical level lesion, in noambulatory and fully dependent on a wheelchair for mobility. Antenatal surgical repair of MMC reduced the need for postnatal shunt placements. Despite preterm delivery, the cognitive development of most children at 3.5 years was normal. Antenatal surgery seemed to improve lower limb motor function in these cases.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  5. Reinnervating the penis in spina bifida patients in the United States: ilioinguinal-to-dorsal-penile neurorrhaphy in two cases.

    Science.gov (United States)

    Jacobs, Micah A; Avellino, Anthony M; Shurtleff, David; Lendvay, Thomas S

    2013-10-01

    Penile sensation is absent in some patients with myelomeningocele owing to the dysfunction of the pudendal nerve. Here, we describe the introduction of penile sensation via ilioinguinal-to-dorsal-penile neurorrhaphy in two patients with penile anesthesia due to neural tube defects. To establish penile sensation via ilioinguinal-to-dorsal-penile-nerve neurorrhaphy. A 20-year-old and a 35-year-old male with L5/S1 myelomeningocele were both highly functioning and ambulatory, with intact ilioinguinal nerve distribution sensation but anesthesia of the penis and glans. They were sexually active and able to ejaculate antegrade. Both had high International Index of Erectile Function scores for confidence to achieve erection sufficient for intercourse. An incision was made from anterior superior iliac crest to the glans penis to expose the inguinal canal and ilioinguinal nerve. The ilioinguinal and dorsal penile nerve were transected and anastomosed. The anastomotic site was then wrapped in a hemostatic agent and a drain was left in place. For penile rehabilitation, both patients were instructed to stimulate the penis while looking at the genitalia to encourage redistribution of perceived sensation. Presence of erogenous penile sensation was tested by neurologic examination and patient feedback, and patients completed sexual health questionnaires. Both patients reported paresthesias of the groin with penile stimulation 1 month after surgery. Both patients are now 24 months postoperative and have erogenous sensation on the ipsilateral glans and shaft during intercourse. Neither patient has difficulty achieving or maintaining erections. We present two patients with dorsal penile reinnervation via the ilioinguinal nerve. Although nerve reinnervation has been used in urological procedures, this is the first description of an attempt to resupply penile sensation via the dorsal penile nerve in the United States with a minimum of 18 months follow-up. Early follow-up suggests

  6. 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...

  7. 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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  11. 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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  17. '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.

  18. 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.

  19. Desempenho psicolinguístico e escolar de irmãos com mielomeningocele Psycholinguistic and school performance of brothers with myelomeningocele

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    Dionísia Aparecida Cusin Lamônica

    2012-08-01

    myelomeningocele. The study included a boy, 14 years and 5 months (P1 and his sister, 6 years and 6 months (P2. The procedures consisted of an interview, Communicative Behavior Observation (CBO, Vocabulary Test Peabody Picture - PPVT, Illinois Test of Psycholinguistic Abilities (ITPA, Phonological Abilities Profile (PAP, School Performance Test (SPT, and recognition of letters and numbers (RLN. The analysis was descriptive and respecting the manuals of the instruments. RESULTS: the oral language has no obvious change. In ITPA and PAP, we found that P1 and P2 had difficulty in memory skills, closure listening, verbal, combination of sounds and phonological awareness. P1 still had difficulty in the ability of visual reception and P2 in the abilities of auditory association and closure grammar. Both children showed difficulties in the learning activities. CONCLUSION: the study subjects performed quite well in communicative skills, oral language and receptive vocabulary without obvious changes. P1 and P2 had changes in psycholinguistic skills and performance of activities involving reading, writing and arithmetic. Difficulties cause major impact on academic activities, demonstrating the vulnerability of the brain in the system supporting learning activity.

  20. Validation of the ovine fetus as an experimental model for the human myelomeningocele defect Validação do feto de ovino como modelo experimental de meningomielocele

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    Denise Araújo Lapa Pedreira

    2007-06-01

    Full Text Available PURPOSE: To produce a myelomeningocele-like human defect in the ovine fetus and validate this experimental model in our population. METHODS: A prospective study on 12 pregnant sheep of a crossed Hampshire/Down breed where a spinal defect was surgically created between Day 75 and Day 77 after conception. The technique consisted of a hysterotomy with exposure of fetal hind limbs and tail up to the mid spine. Fetal skin, paravertebral muscles, and 4 posterior spinal arches were excised, exposing the spinal cord. Duramater was opened and the medulla was incised until the medullar canal. Animals were euthanized at 139 days of gestation for fetal evaluation. The central nervous system was submitted to post-mortem magnetic resonance imaging (MRI and the spine was submitted to pathological examination. RESULTS: The defect was created in 13 fetuses and 5 survived. Mean gestational age at necropsy was 121.6 days (varying from 93 to 145 days. Macroscopically, the defect was present in 4 cases. Microscopy revealed a flattened medulla with disappearance of the medullar canal and disruption of normal medullar architecture with neuronal apoptosis and/or fusion of the piamater and duramater. The MRI showed herniation of the cerebellum into the cervical canal and syringomyelia. CONCLUSIONS: The surgically produced defect mimics the defect found in the human fetus, including the Arnold-Chiari malformation. Post-mortem MRI was used for the first time in our study and proved an excellent alternative for demonstrating the cerebellar herniation. We standardized the technique for creating the defect in our population.OBJETIVO: Produzir um defeito semelhante a meningomielocele humana em feto de ovinos, validando este modelo experimental, em nosso meio. MÉTODOS: Estudo prospectivo com 12 ovelhas de cruzamento das raças Hampshire e Down, onde um defeito na coluna foi criado cirurgicamente com 75 a 77 dias de gestação. A técnica consistiu em histerotomia com exposi

  1. 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

  2. Society of Behavioral Medicine (SBM) position statement: SBM supports curbing summertime weight gain among America's youth.

    Science.gov (United States)

    Bohnert, Amy; Zarrett, Nicole; Beets, Michael W; Hall, Georgia; Buscemi, Joanna; Heard, Amy; Pate, Russell

    2017-12-01

    The Society of Behavioral Medicine recommends adoption of policies at the district, state, and federal levels that minimize weight gain among youth over the summertime, particularly among low-income, minority school-age youth who appear to be at greater risk. Policies that facilitate (1) partnerships between school districts and community organizations to provide affordable summertime programming, (2) strategic efforts by schools and communities to encourage families to enroll and attend summertime programming via the creation of community-wide summertime offerings offices, (3) adoption of joint-use/shared use agreements in communities to promote use of indoor and outdoor school facilities to provide affordable programming during the summer months, and (4) implementation of strategies that help summer programs achieve the Healthy Eating and Physical Activity (HEPA) standards which have been endorsed by the Healthy Out-of-School Time (HOST) coalition. Research is needed to elucidate key mechanisms by which involvement in structured programming may reduce weight gain over the summer months.

  3. Como Lo Hago Yo: Myelomeningocele

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    Lazareff, Jorge

    2014-01-01

    Fortificación con ádico fólico es efectiva, pero aún falta conciencia en los jóvenes. La legalidad del aborto aumenta la importancia de la consulta prenatal. Realizo la cirugía bajo microcoscopio por razones didácticas. Irrigación continua para reducir la temperatura del tejido. Trato a la plaqueta como tejido viable. No suturo la plaqueta. No cierro músculo. ATB por una semana después de cirugía. Hidrocefalia: Válvula en todos los casos de ventriculomegalia. Médula anclada: Desanclar una sola vez. Chiari II: Revisar la válvula. Incluir en el seguimiento rendimiento escolar, puede indicar obstrucción de la válvula o médula anclada. PMID:24791217

  4. 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

  5. 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.

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

    Science.gov (United States)

    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.

  7. 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

  8. 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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  11. First 60 fetal in-utero myelomeningocele repairs at Saint Louis Fetal Care Institute in the post-MOMS trial era: hydrocephalus treatment outcomes (endoscopic third ventriculostomy versus ventriculo-peritoneal shunt).

    Science.gov (United States)

    Elbabaa, Samer K; Gildehaus, Anne M; Pierson, Matthew J; Albers, J Andrew; Vlastos, Emanuel J

    2017-07-01

    The published results of the Management of Myelomeningocele Study (MOMS) trial in 2011 showed improved outcomes (reduced need for shunting, decreased incidence of Chiari II malformation, and improved scores of mental development and motor function) in the fetal prenatal repair group compared to the postnatal group. Historically, endoscopic third ventriculostomy (ETV) remains as a controversial hydrocephalus treatment option with high failure rates in pediatric patients with a history of myelomeningocele (MMC). We report hydrocephalus treatment outcomes in the fetal in-utero myelomeningocele repair patients who underwent repair at our Saint Louis Fetal Care Institute following the MOMS trial. We looked carefully at ETV outcomes in this patient population and we identified risk factors for failure. At our Saint Louis Fetal Care Institute, we followed the maternal and fetal inclusion and exclusion criteria used by the MOMS trial. The records of our first 60 fetal MMC repairs performed at our institute between 2011 and 2017 were examined. We retrospectively reviewed the charts, prenatal fetal magnetic resonance imaging (MRI) and ultrasound (US) imaging findings, postnatal brain MRI, and Bayley neurodevelopment testing results for infants and children who underwent surgical treatment of symptomatic hydrocephalus (VP shunt versus ETV). Multiple variables possibly related to ETV failure were considered for identifying risk factors for ETV failure. Between May 2011 and March 2017, 60 pregnant female patients underwent the prenatal MMC repair for their fetuses between 20 and 26 weeks' gestational age (GA) utilizing the standard hysterotomy for exposure of the fetus, and microsurgical repair of the MMC defect. All MMC defects underwent successful in-utero repair, with subsequent progression of the pregnancy. At the time of this study, 58 babies have been born, 56 are alive since there were 2 mortalities in the neonatal period due to prematurity. One patient was excluded

  12. [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

  13. Three-dimensional reconstructed computed tomography-magnetic resonance fusion image-based preoperative planning for surgical procedures for spinal lipoma or tethered spinal cord after myelomeningocele repair. Technical note

    International Nuclear Information System (INIS)

    Bamba, Yohei; Nonaka, Masahiro; Nakajima, Shin; Yamasaki, Mami

    2011-01-01

    Surgical procedures for spinal lipoma or tethered spinal cord after myelomeningocele (MMC) repair are often difficult and complicated, because the anatomical structures can be deformed in complex and unpredictable ways. Imaging helps the surgeon understand the patient's spinal anatomy. Whereas two-dimensional images provide only limited information for surgical planning, three-dimensional (3D) reconstructed computed tomography (CT)-magnetic resonance (MR) fusion images produce clearer representations of the spinal regions. Here we describe simple and quick methods for obtaining 3D reconstructed CT-MR fusion images for preoperative planning of surgical procedures using the iPlan cranial (BrainLAB AG, Feldkirchen, Germany) neuronavigation software. 3D CT images of the vertebral bone were combined with heavily T 2 -weighted MR images of the spinal cord, lipoma, cerebrospinal fluid (CSF) space, and nerve root through a process of fusion, segmentation, and reconstruction of the 3D images. We also used our procedure called 'Image Overlay' to directly project the 3D reconstructed image onto the body surface using an light emitting diode (LED) projector. The final reconstructed 3D images took 10-30 minutes to obtain, and provided the surgeon with a representation of the individual pathological structures, so enabled the design of effective surgical plans, even in patients with bony deformity such as scoliosis. None of the 19 patients treated based on our 3D reconstruction method has had neurological complications, except for CSF leakage. This 3D reconstructed imaging method, combined with Image Overlay, improves the visual understanding of complicated surgical situations, and should improve surgical efficiency and outcome. (author)

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  17. 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 ...

  18. 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 ...

  19. 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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  4. 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.

  5. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

    Science.gov (United States)

    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.

  11. 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

  12. 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, ...

  13. 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.

  14. 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

  15. Society of Behavioral Medicine (SBM) position statement: SBM urges Congress to preserve and increase the financing of federally funded nutrition assistance programs and services.

    Science.gov (United States)

    Behrman, Pamela; Demirci, Jill; Yanez, Betina; Beharie, Nisha; Laroche, Helena

    2018-05-03

    Deep cuts have been proposed to federally funded nutrition assistance programs, including the Supplemental Nutrition Assistance Program (SNAP); the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC); and federally subsidized school breakfast and lunch programs. Yet, these programs help parents afford healthy meals for their families, pregnant and postpartum mothers access supplemental foods and health services for themselves and their infants and young children, and children obtain the nutrition necessary for optimal school performance. Participation in these programs is linked with reductions in perinatal morbidity and mortality, improved childhood growth trajectories, enhanced school performance, and reductions in food insecurity and poverty. Given these compelling health and economic benefits, the Society of Behavioral Medicine urges Congress to protect and increase funding for federally funded nutrition assistance programs, specifically SNAP, WIC, and school breakfast and lunch programs. Per the recent (2017) recommendations of the School Nutrition Association, Congress should also resist any attempts to "block-grant" subsidized school breakfast and lunch programs, which could reduce access to these programs. It is further recommended that Congress improve the scope of implementation- and outcomes-based assessments of these programs. Finally, we recommend efforts to increase awareness of and participation in SNAP, WIC, and federally funded school meal programs for eligible individuals, children, and families.

  16. Resultados clínicos e radiográficos do tratamento cirúrgico da escoliose paralítica na mielomeningocele Resultados clínicos y radiográficos del tratamiento quirúrgico de la escoliosis paralítica en la mielomeningocele Clinical and radiographic results of surgical treatment of paralytic scoliosis in myelomeningocele

    Directory of Open Access Journals (Sweden)

    Marcos Gassen Martins

    2012-12-01

    inmediato para 10º, y en el periodo postoperatorio tardío para 13º. El promedio de la descompensación del tronco fue de 117 mm, inicialmente ajustado en 67 mm y en el seguimiento final se deterioró hasta 98 mm. CONCLUSIONES: Los pacientes en los que se extendió la instrumentación hasta la pelvis, obtuvieron mejores resultados para todos los cambios relacionados con el tiempo, o sea, escoliosis, oblicuidad pélvica y descompensación del tronco, excepto por la pérdida de corrección de la escoliosis, que fue menor en pacientes que no tenían la fijación de la pelvis.OBJECTIVE: To evaluate the clinical and radiographic results of surgical treatment for paralytic scoliosis in myelomeningocele. METHODS: A retrospective study by reviewing medical records and radiographs of patients with myelomeningocele, surgically treated between the years 1999 and 2009. RESULTS: We analyzed the medical records and radiographs of 29 patients. The mean age at surgery was 12.2 years, with a mean follow-up of 3.8 years. The mean preoperative angle of scoliosis was 77º, initially adjusted to 29º that, at the end of follow-up, deteriorated to 34º. The average of the pelvic obliquity was 16º, corrected in the immediate postoperative period to 10º, and in the late postoperative period to 13º. The trunk decompensation average was 117 mm, initially adjusted to 67 mm and, at final follow-up, deteriorated to 98 mm. CONCLUSIONS: Patients in which the instrumentation was extended to the pelvis, obtained better results for all related changes over time, namely, scoliosis, pelvic obliquity and decompensation of the trunk, except for the loss of scoliosis correction that was lower in patients not undergoing pelvic fixation.

  17. SBM recommends policy support to reduce smoking disparities for sexual and gender minorities.

    Science.gov (United States)

    Matthews, Phoenix Alicia; Blok, Amanda C; Lee, Joseph G L; Hitsman, Brian; Sanchez-Johnsen, Lisa; Watson, Karriem; Breen, Elizabeth; Ruiz, Raymond; Scout; Simon, Melissa A; Fitzgibbon, Marian; Hein, Laura C; Winn, Robert

    2018-01-27

    The Society of Behavioral Medicine supports the inclusion of gender and sexual minorities in all local, state, and national tobacco prevention and control activities. These activities include surveillance of tobacco use and cessation activities, targeted outreach and awareness campaigns, increasing access to culturally appropriate tobacco use dependence treatments, and restricting disproportionate marketing to lesbian, gay, bisexual, and transgender communities by the tobacco industry, especially for mentholated tobacco products. © The Society of Behavioral Medicine 2018. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  18. Ganho de peso nos pacientes portadores de mielomeningocele após tratamento com prótese vertical expansível de titânio para costela Aumento de peso en pacientes con mielomeningocele después del tratamiento con la prótesis vertical expansible de titanio para costilla Weight gain in patients with myelomeningocele after treatment with vertical expandable prosthetic titanium rib

    Directory of Open Access Journals (Sweden)

    Rafael Marques Ielpo

    2012-09-01

    analizaron los pesos, las desviaciones estándar, en el que cada paciente se encontraba en la edad en comparación con tabla de edad versus peso de los valores de referencia de la OMS y también la cifosis angular en el preoperatorio y postoperatorio inmediato y tardío. RESULTADOS: Hubo un aumento de peso absoluto en todos los pacientes con una media de 8,7 kg. (rango 30-20 Kg.. Seis pacientes (75% tuvieron un aumento de peso seguida de un aumento en el valor de la desviación estándar acercarse a la mediana de la curva edad versus peso referencia después del inicio del tratamiento con VEPTR . CONCLUSIÓN: La ganancia de peso absoluto observada no fue acompañada por mejora del estado nutricional y no había ninguna relación entre la corrección de la cifosis y aumento de peso.OBJECTIVE: To evaluate weight gain and change in nutritional status of patients with thoracic myelomeningocele after using the vertical expandable prosthetic titanium rib (VEPTR as an option for treatment of the spine without fusion. METHODS: We conducted a retrospective study including eight patients (mean age of 5.3 years, ranging from 3.6 to 7.6 years at the time of initial surgery, with thoracic myelomeningocele presenting with scoliosis higher than 40º and kyphosis greater than 80º, measured by the Cobb method. All patients were surgically treated with VEPTR by the Scoliosis Group of the AACD in São Paulo. We analyzed patient weights and nutritional status by comparing the standard deviations in weight for age groups based on the WHO reference chart. We also analyzed the angular kyphosis at preoperative, and immediate and late post-operative periods. RESULTS: There was an absolute weight gain in all patients with a mean gain of 8.7 kg (range 3 to 20 kg. Six patients (75% gained weight and had increased value of the standard deviation, resulting in approximation of their weight in relation to the median considered normal weight versus age reference curve after starting treatment with VEPTR

  19. Learning Among Children with Spina Bifida

    Science.gov (United States)

    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 ...

  20. 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 ...

  1. 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 ...

  2. 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

    Directory of Open Access Journals (Sweden)

    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

  3. Diagnosis of fetal neural tube defects by MRI

    International Nuclear Information System (INIS)

    Dong Suzhen; Zhu Ming; Zhong Yumin; Zhang Hong; Pan Huihong

    2010-01-01

    Objective: To explore the diagnostic value of MRI on fetal neural tube defects. Methods: Ten pregnant women, aged from 25 to 35 years (average 28 years) and with gestation from 20-39 weeks (average 33 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound (US) studies. The imaging protocol included fast-imaging employing steady-state acquisition, single-shot FSE and T 1 -weighted fast inversion recovery motion insensitive sequences in the axial, fromtal, and sagittal planes relative to the fetal brain, thorax, abdomen, and spines. Prenatal US and MRI findings were compared with postnatal MRI diagnoses (3 fetuses) or autopsy (7 fetuses). Results: Ten pregnant women (9 with a single fetus and 1 with twin fetuses) were examined. For all cases, the diagnoses established by MRI were correct when compared with postnatal diagnosis or autopsy. In 7 cases, US and MRI findings were in complete agreement with postnatal diagnoses. US missed the diagnosis in 1 cases and misdiagnosed in 2 cases. Ten neural tube defects in this study included anencephaly (1 case), exencephaly (1 case), meningoencephalocele associated with amniotic band sequence (1 case), meningocele (1 case), thoracic myelomeningocele (1 case), lumbar spinal bifida (1 case), sacroiliac myelomeningocele (2 cases), sacroiliac large cystic spinal meningocele (1 case), sacroiliac spinal bifida (1 case). Conclusions: Prenatal MRI is effective in the assessment of fetal neural tube defects. It can exactly discriminate herniated contents and locate the spinal lesion level. (authors)

  4. Decreased incidence of myelomeningocele at birth: effect of folic acid recommendations or prenatal diagnostics?

    DEFF Research Database (Denmark)

    Clemmensen, Dorte; Thygesen, Mathias; Rasmussen, Mikkel Mylius

    2011-01-01

    was noted, incidence rate ratio (IRR) = 40% [22% – 73%], p = 0.3%. We found no change in MMC birth rate after introduction of folic acid supplementation, IRR = 121% [81% – 181%], p = 36%. Conclusion: In conclusion, our findings demonstrate no effect of introducing national folic acid recommendations when...

  5. Upper and Lower Urinary Tract Outcomes in Adult Myelomeningocele Patients: A Systematic Review

    Science.gov (United States)

    Veenboer, Paul W.; Bosch, J. L. H. Ruud; van Asbeck, Floris W. A.; de Kort, Laetitia M. O.

    2012-01-01

    Background The introduction of sophisticated treatment of bladder dysfunction and hydrocephalus allows the majority of SB patients to survive into adulthood. However, no systematic review on urological outcome in adult SB patients is available and no follow-up schemes exist. Objectives To systematically summarize the evidence on outcome of urinary tract functioning in adult SB patients. Methods A literature search in PubMed and Embase databases was done. Only papers published in the last 25 years describing patients with open SB with a mean age >18 years were included. We focused on finding differences in the treatment strategies, e.g., clean intermittent catheterization and antimuscarinic drugs versus early urinary diversion, with regard to long-term renal and bladder outcomes. Results A total of 13 articles and 5 meeting abstracts on urinary tract status of adult SB patients were found describing a total of 1564 patients with a mean age of 26.1 years (range 3–74 years, with a few patients incontinence. Renal function was studied in 1128 adult patients. In 290/1128 (25.7%; range 3–81.8%) patients some degree of renal damage was found and end-stage renal disease was seen in 12/958 (1.3%) patients. Detrusor-sphincter dyssynergy and detrusor-overactivity acted as adverse prognostic factors for the development of renal damage. Conclusions These findings should outline follow-up schedules for SB patients, which do not yet exist. Since renal and bladder deterioration continues beyond adolescence, follow-up of these individuals is needed. We recommend standardization in reporting the outcome of urinary tract function in adult SB patients. PMID:23119003

  6. Desempenho funcional de crianças com mielomeningocele Functional performance of children with myelomeningocele

    Directory of Open Access Journals (Sweden)

    Luanda André Collange

    2008-01-01

    Full Text Available Este trabalho visou analisar o impacto dos níveis de lesão, deambulação e alterações neurológicas associadas ao quadro clínico da mielomeningocele sobre o desempenho funcional de seus portadores. Neste estudo transversal prospectivo foram examinadas 40 crianças com mielomeningocele, avaliando-se nível de lesão, deambulação, malformação de Arnold-Chiari, hidrocefalia, hidromielia, medula ancorada e incontinência esfincteriana. O desempenho funcional foi avaliado pelo Pediatric Evaluation of Disability Inventory (PEDI, para um registro quantitativo da capacidade funcional e autonomia nas atividades cotidianas, nas áreas de autocuidado, mobilidade e função social. Os dados coletados foram analisados estatisticamente, estabelecendo-se o nível de significância em pThis study aimed at analysing the impact of level of lesion, locomotion, and neurological changes associated to meningomyelocele clinical framework concerning functional performance. For this prospective cross-sectional study 40 children with meningomyelocele were assessed as to level of lesion, ambulatory ability, Arnold-Chiari malformation, hydrocephalus, hydromyelia, tethered cord, and sphincter incontinence. Functional performance was evaluated by the Pediatric Evaluation of Disability Inventory (PEDI which quantitatively assesses functional performance and independence in daily activities in the areas of self-care, mobility, and social functioning. Collected data were statistically analysed and the significance level set at p<0.05. Lesion levels and ambulatory ability had a significant (p<0.01 impact on scores of all three PEDI areas. Limitation degree was found to be directly proportional to level of lesion. Functional performance was more severely affected in self-care and mobility activities, and the best functional scores being obtained in social functioning. In patients with thoracic lesion level, symptomatic hydromyelia proved to be a significant factor for self-care (p<0.01. Lesion level and ambulatory ability thus may be said to influence, at different levels of impact, each area of functional performance. For patients with thoracic lesion level, symptomatic hydromyelia may be pointed out as a self-care limiting factor.

  7. Surgical decompression for symptomatic Chiari II malformation in neonates with myelomeningocele

    NARCIS (Netherlands)

    Vandertop, W. P.; Asai, A.; Hoffman, H. J.; Drake, J. M.; Humphreys, R. P.; Rutka, J. T.; Becker, L. E.

    1992-01-01

    Between January, 1981, and July, 1991, 17 infants under 1 month of age were admitted to The Hospital for Sick Children with the signs and symptoms of a Chiari II malformation. These patients' presentation included swallowing difficulty (71%), stridor (59%), apneic spells (29%), aspiration (12%),

  8. Surgery on Fetus Reduces Complications of Spina Bifida

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  3. How Do Health Care Providers Diagnose Spina Bifida?

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  20. Society of Behavioral Medicine (SBM) position statement: improving access to psychosocial care for individuals with persistent pain: supporting the National Pain Strategy's call for interdisciplinary pain care.

    Science.gov (United States)

    Janke, E Amy; Cheatle, Martin; Keefe, Francis J; Dhingra, Lara

    2018-03-01

    Policy makers have articulated a need for clear, evidence-based guidance to help inform pain policy. Persistent pain is common, expensive, and debilitating, and requires comprehensive assessment and treatment planning. Recently released opioid prescribing guidelines by the CDC (2016) emphasize the importance of using nonopioid therapies before considering opioid treatment for those without a malignant illness. The National Pain Strategy (2016) underscores the importance of comprehensive, interdisciplinary pain care. Unfortunately, despite persuasive evidence supporting the efficacy of psychosocial approaches, these interventions are inaccessible to the majority of Americans. Psychosocial approaches to pain management should be available for all individuals with persistent pain and in all health care settings and contexts as part of the comprehensive, interdisciplinary approach to pain care as outlined in the National Pain Strategy. To achieve this, we must prioritize reimbursement of evidence-based psychosocial approaches for pain assessment and management and improve provider training and competencies to implement these approaches.