Arsenic modifies the effect of folic acid in spina bifida prevention, a large hospital-based case-control study in Bangladesh.

BACKGROUND: Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida. This study examines the relationships between mother's arsenic exposure, folic acid, and spina bifida risk in Bangladesh. METHODS: We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified by a neurosurgeon and imaging. Controls were drawn from children seen at NINS&H and nearby Dhaka Shishu Hospital. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS). We used logistic regression to examine the associations between arsenic and spina bifida. We used stratified models to examine the associations between folic acid and spina bifida at different levels of arsenic exposure. RESULTS: We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother's arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median value of 0.46 µg/g, and no association was seen among mothers with toenail arsenic concentrations higher than 0.46 µg/g (adjusted OR: 1.09, 95% CI: 0.52-2.29, p = 0.82). CONCLUSIONS: Mother's arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.

Patients With Spina Bifida Have Longer Length of Hospital Stay: Statewide Health Care Utilization in California From 1995 to 2017.

INTRODUCTION: Our goal was to better understand the health care utilization of patients with spina bifida (SB) by evaluating length of hospital stay (LOS) as well as identifying what characteristics within the SB population are contributing to shorter or longer LOS. METHODS: By querying the Department of Health Care Access and Information database of all encounters at California-licensed hospitals from January 1995 through December 2017, this study analyzed LOS as a measure of health care utilization. Patients with SB were identified using the International Classification of Diseases-9 and -10 coding system, and the data collected for both SB and control cohorts were compared using linear and logistic regression models. RESULTS: Patients with SB spent a mean LOS of 7.3 days compared to 4.7 days among the control cohort (P < .001). In multivariable analysis, SB was found to be an independent predictor of longer LOS. Within the SB encounters, increasing comorbidities and nonprivate insurance were associated with longer LOS, while being female and Hispanic were associated with a shorter LOS. CONCLUSIONS: SB is an independent predictor of longer LOS when compared to the control cohort. These findings highlight the importance of understanding the preventive health care access and needs of the vulnerable SB population to decrease hospital utilization rates.

Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring.

BACKGROUND: Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. METHODS: Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied. RESULTS: Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null. CONCLUSIONS: Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.

Prevalence of neural tube defect and its identification during antenatal period: a cross-sectional study in eastern Indian state.

OBJECTIVE: To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions. DESIGN: A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data. SETTING: The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively. PARTICIPANTS: All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled. RESULTS: The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable. CONCLUSION: This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities. TRIAL REGISTRATION NUMBER: CTRI/2021/06/034487.

Mortality rates, cause and risk factors in people with spina bifida, register-based study over five decades.

AIM: Care for people with spina bifida can be improved. This may be done by evaluating mortality rates and causes of death. METHODS: Between 1973 and 2021, 1735 people with spina bifida appeared in registers of the Swedish population. Survival rates and causes of death were calculated according to age and decade. RESULTS: Over almost 50 years, the prevalence of spina bifida decreased from 5.2 to 1.2 per 10 000 births. Mortality fell sharply during the first year of life, with survival rising from 75% to 94%. For children aged 2-18 years and adults, mortality rates were low and differences between decades were minimal. Causes of childhood deaths were congenital abnormalities, hydrocephalus and infections, the latter two also in adults. Adult causes also included self-inflicted injuries and substance abuse, with suicidal or unclear intent, both more common than in the general population. Bladder malignancies were also more frequent, although after reconstructive bladder surgery, mortality rates were similar. CONCLUSION: Survival in the first year of life increased in children with spina bifida, whereas there was no difference in survival rates between adults born between 1973 and 1999. For adults, proactive prevention methods regarding self-inflicted injury, substance abuse and bladder cancer are warranted.

A global update on the status of prevention of folic acid-preventable spina bifida and anencephaly in year 2022.

BACKGROUND: Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice). METHODS: We used year 2022 data from the Food Fortification Initiative to identify countries (n = 69) with mandatory fortification of grains that includes folic acid. Sixty-eight countries were eligible for analysis with complete data. Proportion of FAP SBA prevention was modeled assuming >150 mcg/day of folic acid fortification protects against FAP SBA, reducing post-fortification prevalence to a lowest achievable level of 0.5 cases per 1000 births. RESULTS: Our analysis found that a total of 63,520 cases of FAP SBA were prevented in the year 2022 in 68 countries implementing mandatory folic acid fortification of grains with folic acid. This translated to a 23.7% prevention of all possible FAP SBA prevention globally. An excess of 204,430 cases of FAPSBA still occurred in over 100 countries where mandatory staple food fortification with folic acid is not implemented. CONCLUSION: Our study showed that only a quarter of all FAP SBA cases were averted through mandatory folic acid fortification in the year 2022; many countries are not implementing the policy, resulting in a large proportion of FAP SBA cases that can be prevented. Fortification will help countries with achieving 2030 Sustainable Development Goals on neonatal- and under-five mortality, disability, stillbirths, and elective terminations prevention, from FAP SBA.

Spinal dysraphism in congenital scoliosis and kyphosis: a retrospective analysis in an Indian population.

PURPOSE: Early recognition is crucial for occult spinal dysraphism associated with congenital spinal deformities. There is limited literature available on its occurrence in congenital scoliosis and kyphosis in the Indian population. METHODS: Our study involved a retrospective review of 247 children who presented at a single centre. We analyzed their demographics and clinical and radiological findings, which included the type of deformity, its location, vertebral anomaly, Cobb angle, and MRI findings. The deformities were categorized as congenital scoliosis or congenital kyphosis with failure of formation, failure of segmentation, or both. RESULTS: A total of 247 cases were examined (congenital scoliosis-229, congenital kyphosis-18). The average age was seven years (range 0.8 to 19 years, SD 4.6). The mean Cobb angle at presentation in the congenital scoliosis group was 49.4° (range 8 to 145°, SD 23.77) for those with abnormal MRI and 42.45° (range 5 to 97°, SD 20.09) for those with normal MRI. For the congenital kyphosis group, the mean K angle at presentation was 47.7° (range 14 to 110°, SD 33.33) for those with abnormal MRI and 47.36° (range 15 to 70°, SD 16.63) for those with normal MRI. Abnormal MRI results were observed in 130 of the patients (congenital scoliosis-53.7%, congenital kyphosis-38.8%). The highest incidence of abnormal MRI findings was observed in the failure of segmentation (66.6%) and mixed (65%) types. Deformities in the dorsal region had the highest incidence (61.9%). The most common dysraphism instances were diastematomyelia and tethered cord. There was a significant correlation between type of deformity and presence of dysraphism. CONCLUSION: This is the largest case series of congenital scoliosis and kyphosis reported from India. We found a high incidence of occult spinal dysraphism as compared to other published series. Occult spinal dysraphism is more common in the thoracic region. Diastematomyelia followed by tethered cord was the most common anomaly observed. We recommend MRI screening of whole spine and craniovertebral junction.

Oral contraceptive use in women with spina bifida in Sweden.

BACKGROUND: Thanks to improved medical care, individuals with spina bifida (SB) live well into adulthood and go through the process of reproductive maturation and the development of sexual desires. However, access to reproductive counselling and contraceptive use has been reported to be lower for women with physical and intellectual disabilities compared to the general population. OBJECTIVE: We investigated oral contraceptive use in women with SB, residing in Sweden and how use varies based on the level of lesion and demographic factors. METHODS: This was a population-based case-control study using annual data from national registers from 2006 to 2015. The sample consisted of 7045 women aged 15-49 years, of which 1173 had a diagnosis of SB. χ2 tests and logistic regression were used to investigate the study objective. RESULTS: The rate of oral contraceptive use in women with SB was 24.6 % compared to 34.5 % among the general population. After adjusting for potential confounders women with SB were found to have a lower probability of using oral contraceptives (OR 0.63 95 % CI 0.56-0.71) compared to women without SB. Among women with SB, those with diagnoses Q05.8 (Sacral SB without hydrocephalus) and Q05.9 (SB unspecified) had a higher likelihood of using oral contraceptives compared to other Q05 diagnoses. CONCLUSION: Women with SB had a lower likelihood of being on oral contraceptives compared to the control group. Further research should investigate if the lower use indicates that oral contraceptives are not an inappropriate method of contraception for women with SB.

Prevalence of sexual abuse and intimate partner violence in adults with spina bifida.

BACKGROUND: People with disabilities and chronic medical conditions are known to be at higher risk of sexual abuse (SA) and intimate partner violence (IPV). People with spina bifida (SB) are vulnerable, but little is known about the prevalence of abuse in this population. OBJECTIVE: To evaluate the prevalence and risk factors of SA and IPV in adults with SB. METHODS: An anonymous international cross-sectional online survey of adults with SB asked about history of SA ("sexual contact that you did not want") and IPV ("hit, slapped, kicked, punched or hurt physically by a partner"). RESULTS: Median age of the 405 participants (61% female) was 35 years. Most self-identified as heterosexual (85%) and were in a romantic relationship (66%). A total of 19% reported a history of SA (78% no SA, 3% preferred not to answer). SA was more frequently reported by women compared to men (27% vs. 5%, p < 0.001) and non-heterosexual adults compared to heterosexuals (41% vs. 15%, p < 0.001). Twelve percent reported a history of IPV (86% no IPV, 2% preferred not to answer). IPV was more frequently reported by women compared to men (14% vs. 9%, p = 0.02), non-heterosexuals compared to heterosexuals (26% vs. 10%, p = 0.002), and adults with a history of sexual activity versus those without (14% vs. 2%, p = 0.01). CONCLUSION: People with SB are subjected to SA and IPV. Women and non-heterosexuals are at higher risk of both.

Fetal spina bifida associates with dysregulation in nutrient-sensitive placental gene networks: Findings from a matched case-control study.

To improve outcomes in fetuses with spina bifida (SB), better understanding is needed of the molecular drivers of SB and its comorbidities. Pregnant people carrying a fetus with isolated SB (cases; n = 12) or a fetus with no congenital anomalies (controls; n = 21) were recruited at Mount Sinai Hospital, Toronto, Ontario, Canada. Clinical data and placental samples were collected. Placental transcriptome was sequenced (Clariom D microarray) and a nutrient-focused gene expression analysis pipeline was applied to determine whether fetal SB associates with placental dysfunction. Of the 391 differentially expressed genes (DEGs) in cases, 11% (n = 42) had at least one nutrient cofactor, including B vitamins (n = 7 genes), iron/heme (n = 6), and zinc (n = 11). Cases had dysregulation in genes not previously known to associate with SB, and in placental genes that have known links to SB but have not been previously identified in the placenta. Cases also had downregulated nutrient transport and upregulated branching angiogenesis and immune/inflammatory processes. Five nutrient-dependent transcription regulators, collectively predicted to target 46% of DEGs in cases, were identified and were most commonly dependent on B vitamins (n = 3) and zinc (n = 2). Placental gene expression changes were most acute in cases with poor growth. Placentae from fetuses with SB have dysregulation in several gene networks, including those that are sensitive to multiple micronutrients beyond the well-known folic acid. An improved understanding of placental phenotype in fetuses with SB may help identify novel mechanisms associated with comorbidities in fetuses with SB, and reveal new targets to improve fetal outcomes in this population.

The etiology of pediatric hydrocephalus across Asia: a systematic review and meta-analysis.

OBJECTIVE: Despite the high prevalence and significant implications of pediatric hydrocephalus, the etiological distribution of pediatric hydrocephalus across the diverse Asian demographic is poorly understood. This study aimed to inform clinical guidelines and public health decisions by identifying the etiological distribution of pediatric hydrocephalus across Asia. METHODS: In this systematic review and meta-analysis, the authors searched EMBASE, MEDLINE, CENTRAL, Global Health, Global Index Medicus, and Scopus, with no language restriction, from inception to January 27, 2023. Observational or experimental studies with pediatric data on the causes of hydrocephalus in a country within Asia were included. Pooled proportions of postinfectious hydrocephalus, nonpostinfectious hydrocephalus, and hydrocephalus related to spinal dysraphism were calculated using a random-effects model. Subgroup analyses were performed on prespecified moderators. Methodological study quality was assessed using the modified Newcastle-Ottawa Score and Cochrane's risk-of-bias tool as per the registered protocol on PROSPERO. RESULTS: The search yielded 5110 results, for which 79 articles were included, with data on 11,529 children from 18 Asian countries. The pooled proportion of nonpostinfectious hydrocephalus was 29.0% (95% CI 22.9-35.5); postinfectious hydrocephalus was 10.7% (95% CI 7.7-14.1); and hydrocephalus secondary to dysraphism was 7.6% (95% CI 5.1-10.5). The pooled proportion of postinfectious hydrocephalus was greatest in lower-middle-income countries (19.2% [95% CI 12.8-26.3]). There was a negative association between the proportion of postinfectious hydrocephalus and Human Development Index (-1.45 [95% CI -2.21 to -0.69]; p < 0.001); urbanization of the country (-0.008 [95% CI -0.012 to -0.004]; p < 0.001); and increasing distance from the equator (-0.016 [95% CI -0.026 to -0.006]; p = 0.002). The pooled proportion of nonpostinfectious hydrocephalus was greatest in high-income countries (36.7% [95% CI 27.6-46.3]). Certain etiologies of pediatric hydrocephalus were more common in different cultural regions, with postinfectious hydrocephalus most common in South Asia (23.2% [95% CI 15.8-31.5]); nonpostinfectious in East Asia (38.3% [95% CI 26.6-50.7]); and dysraphism in West Asia (11.9% [95% CI 6.4-18.8]). CONCLUSIONS: Geographic and economic characteristics are associated with the etiological distribution of pediatric hydrocephalus in Asia, with implications for prevention and management strategies. The large proportion of hydrocephalus cases in which the etiology was unclear highlights the need for both improved diagnostics as well as clear and strict universal guidelines on the etiological classification of hydrocephalus.

Location Matters: The Role of the Neighborhood Environment for Incident Cardiometabolic Disease in Adults Aging With Physical Disability.

PURPOSE: People aging with disability may be limited in their ability to engage in healthy behaviors to maintain cardiometabolic health. We investigated the role of health promoting features in the neighborhood environment for incident cardiometabolic disease in adults aging with physical disability in the United States. DESIGN: Retrospective cohort study. SETTING: Optum's Clinformatics® Data Mart Database (2007-2018) of administrative health claims. SUBJECTS: ICD-9-CM codes were used to identify 15 467 individuals with a diagnosis of Cerebral Palsy, Spina Bifida, Multiple Sclerosis, or Spinal Cord Injury. MEASURES: Cardiometabolic disease was identified using ICD-9-CM/ICD-10-CM codes over 3 years of follow-up. Measures of the neighborhood environment came from the National Neighborhood Data Archive and linked to individual residential ZIP codes over time. Covariates included age, sex, and comorbid health conditions. ANALYSIS: Cox regression models estimated hazard ratios (HR) for incident cardiometabolic disease. Using a 1-year lookback period, individuals with pre-existing cardiometabolic disease were excluded from the analysis. RESULTS: Net of individual risk factors, residing in neighborhoods with a greater density of broadband Internet connections (HR = .88, 95% CI: .81, .97), public transit stops (HR = .89, 95% CI: .83, .95), recreational establishments (HR = .89, 95% CI: .83, .96), and parks (HR = .88, 95% CI: .82, .94), was associated with reduced risk of 3-year incident cardiometabolic disease. CONCLUSION: Findings identify health-promoting resources that may mitigate health disparities in adults aging with disability.

The Aperta type of neural tube defect: The relevant experience in a local community with the diversity of the presentation.

A series of birth defects known as neural tube defects (NTDs) appear when the neural tube fails to fully or partially close during fetal development. In nations without folic acid supplementation, their incidence ranges from 0.5 to 2 per 1,000 births. The purpose of our study is to estimate the prevalence of NTDs and define the workup for newborn infants with an open neural tube in Al-Qadissiyah, Iraq. This 18-year descriptive retrospective analysis included all babies with NTD diagnoses at the Maternity and Child Teaching Hospital in Al-Qadissiyah Governorate, Iraq. Over the research period, 187 cases of NTDs were evaluated. NTDs presented a male predominance and an incidence rate of 9.4 per 1,000 births, with spina bifida (67.9%), encephalocele (24.02%), and anencephaly (8.02%) being the most prevalent defects. The typical gestational age was 36±5, whereas the typical maternal age was 30±5. It should be noted that 29.9% of women did not take folic acid supplements during the first trimester, while one-third of moms did not benefit from medical supervision during pregnancy. In 65.2% of instances, an antenatal diagnosis was made, and cesarean section was the mode of delivery in 87,8% of cases. Other than that, 64.7% of women lived in low socioeconomic conditions, and 67.9% were from rural areas. The relevance of reinforcing and maximizing folic acid measures throughout the periconceptional phase is emphasized by the fact that NTDs require high intensity and advanced care.

Tendencia de los Defectos de Tubo Neural en el Estado de Hidalgo México del 2013-2018 / Trend of Neural Tube Defects in Hidalgo Mexico from 2013-2018

INTRODUCCIÓN: los Defectos de Tubo Neural (DTN) son defectos congénitos del sistema nervioso central resultado del cierre inadecuado en alguna zona del tubo neural, siendo los más frecuentes Anencefalia y Espina Bífida en sus diferentes variantes. En Latinoamérica y México se encuentran dentro de las principales causas de morbilidad y mortalidad infantil. MATERIAL Y MÉTODOS: Análisis de series de tiempo de casos y defunciones de DTN en Hidalgo del 2013-2018 generado a partir de la base de datos de la Dirección General de Vigilancia Epidemiológica de los Defectos del Tubo Neural y Craneofaciales proporcionada por la Secretaria de Salud del Estado de Hidalgo, se incluyeron 187 casos con DTN que nacieron y radican en el Estado. Se calcularon las tasas de mortalidad infantil específicas por DTN con el objetivo de identificar probables factores que incidan o incrementen dichas tendencias. RESULTADOS: la incidencia de DTN fue de 58.7 en el periodo estudiado, la Anencefalia es el más incidente 45% (84), seguido del Mielomeningocele 33% (62) él cual muestra una incidencia creciente. El 84% de la población estaba afiliada al Seguro Popular. Solo el 7.5% (14) de las madres de los casos consumieron ácido fólico tres meses previos al embarazo y el 55% (103) acudieron a 3 consultas prenatales o menos. CONCLUSIONES: Los DTN requieren de estudio y vigilancia permanente pues representan una causa importante de morbilidad y mortalidad en la infancia que afecta a los individuos que los padecen, sus familias, la sociedad y el sistema de salud, con esto se evitarían resultados negativos

INTRODUCTION: Neural Tube Defects (DTN) are congenital defects of the central nervous system resulting from an inadequate closure in some area of ​​the neural tube, the most frequent being Anencephaly and Spina Bifida in their different variants. In Latin America and Mexico, they are among the main causes of infant morbidity and mortality. MATERIAL AND METHODS: Analysis of time series of cases and deaths of DTN in Hidalgo from 2013-2018 generated from the database of the General Directorate of Epidemiological Surveillance of Neural Tube and Craniofacial Defects directly by the Ministry of Health of the State of Hidalgo, included 187 cases with DTN that were born and reside in the State. DTN specific infant mortality rates will be calculated in order to identify probable factors that influence or increase various trends. RESULTS: the incidence of DTN was 58.7 in the period studied, Anencephaly is the most incident 45% (84), followed by Myelomeningocele 33% (62), which shows an increasing incidence. 84% of the population was affiliated at the Seguro Popular. Only 7.5% (14) of the mothers of the cases consumed folic acid three months before the pregnancy and 55% (103) attended 3 or less prenatal visits. CONCLUSIONS: DTN are problems of study and permanent surveillance, since they represent an important cause of morbidity and mortality in childhood that affect the individuals who suffer, their families, society and the health system, this would avoid negative results

Manifestaciones neurológicas asociadas a espina bífida en adultos / Neurological manifestations associated with spina bifida in adults

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Unidad de asistencia coordinada a pacientes con anomalías del tubo neural y sus familias / Coordinated care unit for patients with neural tube anomalies and their families

La Espina Bífida es una malformación multisistémica incurable y transmisible, con múltiples secuelas importantes, unas tratables y otras evitables, que afectan y limitan tanto la salud como la vida socio-laboral. El objetivo principal debe ser la prevención. La primaria, es decir la no ocurrencia, se puede realizar conociendo los posibles factores etiológicos implicados en la población. Esto es una responsabilidad de política sanitaria basada en la evidencia científica y la opinión de los expertos. La prevención secundaria es intentar disminuir las secuelas y mejorar la calidad y expectativa de vida de los nacidos con EB. En la actualidad las personas nacidas con Espina Bífida, tienen una prolongada expectativa de vida, con una serie de necesidades específicas durante toda su existencia. Son fundamentales los primeros años de vida. En la adolescencia y la adultez hay un gran riesgo si se abandona cualquier aspecto socio-sanitario a la evolución natural, dejando los controles y cuidados propios de la asistencia coordinada pediátrica, ya que la tendencia será a producirse complicaciones totalmente evitables. El paciente con Espina Bífida es fundamentalmente una persona, no una suma de patologías. Es imprescindible tener una visión holística e integral de cada persona con EB, y no como una serie de diferentes especialidades inconexas. La intervención independiente de los múltiples profesionales implicados pueden interferirse perjudicialmente, pero pueden lograr la máxima eficiencia (costo-eficacia) y calidad asistencial si lo hacen de manera continua y coordinada. Los esfuerzos realizados y los objetivos conseguidos en la edad pediátrica pueden mejorarse con la Asistencia Coordinada Multidisciplinar, pero pueden perderse si no se continúan durante toda la vida, produciéndose un deterioro evitable, en la calidad de vida y una perdida de los elevados recursos sanitarios invertidos

Bifid Spine is a multisystem malformation incurable and transmissible with a lot of important sequelae, some of them with treatment and some other avoidable. They affect and limit not only health but social-work life too.The main objective must be prevention. The primary prevention, meaning not occurrence, could be done by recognizing the possible etiologic factors that affect the population. This is a responsibility of health policies based in scientific evidences and expert's opinions. Secondary prevention would be to make efforts to decrease the consequences and improve newborns with bifid spine life`s quality and life expectancy. Actually, persons born with bifid spine, have a long-term life expectancy with specific necessities during their lives. The first two years of life are very important. During their adolescence and adult life, risk increases if any social-health aspect is abandoned giving up follow and self-care from the pediatrics coordinated assistance team, as it follows its natural evolution. It will cause totally avoidable complications. A patient with bifid spine is basically a person, not a group of diseases. It is essential to have a holistic and total look for each person with bifid spine and not consider the patient like a collection of troubles treated with different non coordinated specialities. The individual intervention of each medical doctor could damage and it could be better if they work coordinated for a long time. This strategy would allow improved efficiency (cost/efficacy) and quality of assistance.Every effort done and the objectives reached in childhood can be improved with the multidisciplinary coordinated assistance, but it can be lost if it does not continue during all life. It may cause a serious and evitable damage in life quality with loss of spent health resources

Siringomielias en pediatría: estudio retrospectivo de 25 casos / Syringomyelias in paediatrics: a retrospective study of 25 cases

Introducción. Se define siringomielia como una cavidad que contiene líquido cefalorraquídeo dispuesta en el interior de la médula espinal. Objetivo. Describir las características clínicas de una serie de pacientes con siringomielia, su diagnóstico y tratamiento. Pacientes y métodos. Estudio descriptivo retrospectivo realizado mediante la revisión de historias clínicas en nuestro centro. Resultados. Se revisaron 25 pacientes diagnosticados de siringomielia. En cinco el diagnóstico fue casual y ocho presentaban una patología grave previa (tumoral, ósea o vascular). Dos pacientes comenzaron con hidrocefalia y clínica de hipertensión intracraneal y únicamente dos destacaban cefalea como único síntoma. Cuatro presentaron escoliosis progresiva, dos de ellos como queja inicial, y precisaron cirugía con artrodesis y uso de corsé, respectivamente. Destaca la precocidad del diagnóstico. La mayoría presentaba únicamente pérdida de fuerza leve, con potenciales somatosensoriales y electromiograma normales. En todos se hicieron controles con resonancia magnética. Ocho pacientes precisaron craniectomía descompresiva con laminectomía posterior C1-C2, con drenaje de la cavidad siringomiélica en cuatro. Nueve requirieron válvula de derivación y dos precisaron, además, ventriculostomía. Conclusiones. La presencia de siringomielia en pediatría es rara, y se asocia generalmente a malformaciones en la fosa posterior y antecedentes de disrafismo espinal. Destaca la escoliosis progresiva como posible manifestación aislada. Un abordaje multidisciplinar con controles radiológicos seriados y la valoración por servicios de neurología y neurocirugía pediátricos son mandatorios para su seguimiento (AU)

Introduction. Syringomyelia is defined as a cavity containing cerebrospinal fluid inside the spinal cord. Aim. To describe the clinical characteristics of a series of patients with syringomyelia, as well as its diagnosis and treatment. Patients and methods. We conducted a retrospective descriptive study by reviewing the medical records at our centre. Results. We reviewed 25 patients diagnosed with syringomyelia. In five cases, the diagnosis was reached casually, and eight of them presented a previous severe pathology (tumour, bone or vascular). Two patients began with hydrocephalus and clinical signs and symptoms of intracranial hypertension and just two of them reported headaches as the only symptom. Four presented progressive scoliosis, two of them as the initial complaint, and required surgery with arthrodesis and the use of a corset, respectively. A notable feature was the earliness of the diagnosis. Most of them only presented a slight loss of strength, with normal somatosensory potentials and electromyogram. Check-ups were carried out with magnetic resonance. Eight patients required a decompressive craniectomy with posterior C1-C2 laminectomy, with drainage of the syringomyelic cavity in four cases. Nine of them required a bypass valve and a ventriculostomy also had to be performed in two of them. Conclusions. The presence of syringomyelia is rare in paediatric patients, and is generally associated with malformations in the posterior fossa and a medical history of spinal dysrhaphism. Progressive scoliosis stands out as a possible isolated manifestation. A multidisciplinary approach with regular radiological check-ups and evaluation by paediatric neurology and neurosurgery services are mandatory for its follow-up (AU)

Oral health status of a sample of Venezuelan patients with spina bifida: a cross-sectional study / Estado de salud bucal de una muestra de pacientes venezolanos con espina bífida: estudio transversal

Abstract: 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 percent of the patients had a history of caries: 22 percent in the 1-4 year group, 71.4 percent in the 5-7 year group, and 100 percent in the 8-16 year group. The dmft and DMFT indices were 1.55 and 3.50, respectively. A 46.7 percent of the patients had gingivitis, 30 percent had dental calculus, with an OHI-S of 2. The 83 percent had Angle Class II and 17 percent, Angle Class I. A 40 percent had parafunctional habits such as digital suction, use of pacifiers and onicophagia. The 70 percent 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.

Resumen: la espina bífida (EB) es una malformación congénita de la médula espinal con alteraciones vertebrales simultáneas, debido al cierre incompleto del tubo neural. El objetivo de este trabajo es reportar el estado de salud bucal de una muestra de pacientes venezolanos con EB. Materiales y métodos: se realizó un estudio observacional de corte transversal donde se evaluaron 30 pacientes con EB para determinar su estado de salud bucal y otras variables de interés. Resultados: Un 46,7 por ciento de los pacientes presentó historia de caries, con un 22,2 por ciento en el grupo de 1-4 años, 71,4 por ciento en el grupo 5-7 años y del 100 por ciento en los pacientes de 8 a 16 años. El índice ceod fue de 1.55 y el COPD de 3.50. Un 46,7 por ciento presentó gingivitis, el 30 por ciento presentó cálculo dental, siendo el IHOS de 2. El 83 por ciento presentó clase II de Angle y el 17 por ciento clase I de Angle. El 40 por ciento tenía hábitos parafuncionales, siendo éstos, la succión digital, uso de pacificadores y la onicofagia. El 70 por ciento de los pacientes presentó paladar profundo. Conclusiones: Los pacientes con EB presentan características bucales particulares y factores de riesgo que deben ser considerados durante la consulta odontológica para brindarle una atención de adecuada y mejorar su calidad de vida.