Understanding the Mothers of Children with Spina Bifida and Hydrocephalus in Tanzania.

OBJECTIVE: To identify if there are cultural, medical, educational, economic, nutritional and geographic barriers to the prevention and treatment of spina bifida and hydrocephalus. METHODS: The mothers of infants with spina bifida and hydrocephalus admitted to Muhimbilli Orthopaedic Institute, Dar Es Salaam, Tanzania, between 2013 and 2014 were asked to complete a questionnaire. A total of 299 infants were identified: 65 with myelomeningoceles, 19 with encephaloceles, and 215 with isolated hydrocephalus. The questionnaire was completed by 294 of the mothers. RESULTS: There was a high variation in the geographic origin of the mothers. Approximately 85% traveled from outside of Dar Es Salaam. The mean age was 29 (15-45) years old with a parity of 3 (1-10). The rates of consanguinity, obesity, antiepileptic medication, HIV seropositivity, and family history were 2%, 13%, 0%, 2%, and 2%, respectively. A maize-based diet was found in 84%, and only 3% of woman took folic acid supplementation, despite 61% of mothers stating that they wished to conceive another baby. Unemployment was high (77%), a low level of education was common (76% not attended any school or obtaining a primary level only), and 20% were single mothers. Hospital only was the preferred method of treatment for 94% of the mothers, and 85% of the babies were born in a hospital. CONCLUSIONS: Our study highlights some of the cultural, educational, geographic, nutritional, and economic difficulties in the prevention and management of spina bifida and hydrocephalus in Tanzania.

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

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 findings point to an overall low folic acid supplement use and low plasma folate concentrations among women of reproductive age in Bangladesh. Mandatory fortification of staple foods with folic acid can address low folate status among women of child-bearing age, and prevent child morbidity and mortality associated with myelomeningocele in Bangladesh.

Research: Prevalence of neural tube defects Khartoum, Sudan August 2014-July 2015.

BACKGROUND: Neural tube defects (NTDs) are birth defects that results from failure of the neural tube to develop properly during early pregnancy. METHODS: We studied the prevalence of neural tube defects in newborns admitted to the NICU in Soba University and Omdurman Maternity hospitals, during the period 1st August 2014 to 31st July 2015. A cross-sectional hospital based study, involved all newborns with any type of neural tube defect admitted to the NICU in the study area during the study period. Data was collected using a questionnaire reviewing the medical, social history and clinical examination. RESULTS: Out of the 36,785 delivered newborns during the study period, the prevalence of NTDs was 2.8:1000. Females were 56 (54.4%) predominated males 47 (45.6%). History of neural tube defects was found in 11 (10.7%) of the affected newborns siblings. Sixty-eight (66%) of the studied mothers received folic acid during pregnancy with the current child, of those who received folic acid 66 (97.1%) started folic acid after conception, 36 (54.5%) in the first trimester and 39 (57.4%) had no regular intake of the folic acid. The types of NTDs include myelomeningocele 49 (47.6%), anencephaly 18 (17.5%), encephalocele 14 (13.6%), myelomeningocele and hydrocephalus 11 (10.7%) and meningocele 8 (7.8%). CONCLUSION: The prevalence of neural tube defects is 2.8:1000. Myelomeningocele is the commonest encountered NTD. The use of preconception folic acid needs to be advocated.

Arsenic is associated with reduced effect of folic acid in myelomeningocele prevention: a case control study in Bangladesh.

BACKGROUND: Arsenic induces neural tube defects in several animal models, but its potential to cause neural tube defects in humans is unknown. Our objective was to investigate the associations between maternal arsenic exposure, periconceptional folic acid supplementation, and risk of posterior neural tube defect (myelomeningocele) among a highly exposed population in rural Bangladesh. METHODS: We performed a case-control study that recruited physician-confirmed cases from community health clinics served by Dhaka Community Hospital in Bangladesh, as well as local health facilities that treat children with myelomeningocele. Controls were selected from pregnancy registries in the same areas. Maternal arsenic exposure was estimated from drinking water samples taken from wells used during the first trimester of pregnancy. Periconceptional folic acid use was ascertained by self-report, and maternal folate status was further assessed by plasma folate levels measured at the time of the study visit. RESULTS: Fifty-seven cases of myelomeningocele were identified along with 55 controls. A significant interaction was observed between drinking water inorganic arsenic and periconceptional folic acid use. As drinking water inorganic arsenic concentrations increased from 1 to 25 µg/L, the estimated protective effect of folic acid use declined (OR 0.22 to 1.03), and was not protective at higher concentrations of arsenic. No main effect of arsenic exposure on myelomeningocele risk was identified. CONCLUSIONS: Our study found a significant interaction between drinking water inorganic arsenic concentration from wells used during the first trimester of pregnancy and reported intake of periconceptional folic acid supplements. Results suggest that environmental arsenic exposure reduces the effectiveness of folic acid supplementation in preventing myelomeningocele.

Spina bifida.

Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60-70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa.

Prevention of myelomeningocele: African perspectives.

BACKGROUND: The prevention of neural tube defects (NTDs) is now an issue of major public health concern. Myelomeningocele, the most common NTD, often results in severe disabilities and may be life threatening. In Africa, there is little awareness of the NTDs, and most African countries lag behind in the global efforts at preventing them. PURPOSE: Following a review of global literature, we discuss the burden of myelomeningocele on the society and the current state of its prevention with an emphasis on Africa within the global context. The realization that folate supplementation reduces the occurrence of NTDs by as much as 85 % offers an opportunity to promote global reduction in the incidence of NTDs through (1) effective folate supplementation strategies combined with (2) secondary prevention using prenatal detection and termination of NTD pregnancies within respective national legal frameworks. We call attention to the poor state of understanding of NTDs in Africa and the alarming rarity of policies to prevent the condition in the continent. CONCLUSIONS: The understanding of the contributions of folate deficiency to the causation of NTDs has enabled appropriate, though still inadequate, preventive measures to be taken in several countries. We call on African governments and the international community to rapidly promote policies aimed at making fortification of wheat (and or other substitute staple foods) with folic acid universally available.

Reduction in neural injury with earlier delivery in a mouse model of congenital myelomeningocele: laboratory investigation.

OBJECT: The authors undertook this study to assess the effect of preterm delivery with respect to neural protection in a congenital myelomeningocele (MMC) mouse model. METHODS: After confirmation of pregnancy in 15 female mice, a congenital MMC model was produced by administration of retinoic acid on the 7th day of gestation. The pregnant mice underwent cesarean sections on Days 15 (n = 5, Group E15), 17 (n = 5, Group E17), and 19 (n = 5, Group E19). Histological analyses were conducted on the lumbar defect and on the craniocervical junction in all fetuses with MMC. RESULTS: Fetuses in Group E19 showed the most significant injury to neural tissue of the spinal cord at the MMC area followed by those in Group E17, with Group E15 being the least affected. All groups exhibited a degree of Chiari malformation; Group E19 was the most affected, followed by Group E17, and Group E15 was the least affected. CONCLUSIONS: Development of both Chiari malformation and exposed spinal cord injury are progressive during gestation. Preterm delivery in this mouse model of congenital MMC may minimize the degree of injury to the spinal cord neural tissue and the degree of Chiari malformation.

Risk factors associated with lipomyelomeningocele: a case-control study.

BACKGROUND: In general, it seems that both genetic and environmental factors play important roles in the induction of neural tube defects. Lipomyelomeningocele (LipoMMC) is a rather common type of closed neural tube defect, but only limited studies have investigated the potential risk factors of this anomaly. Therefore, the purpose of this case-control study was to investigate the risk factors involved in LipoMMC formation. MATERIAL AND METHOD: Various risk factors were evaluated in 35 children between 1 month and 10 years of age with LipoMMC in a hospital-based case-control study. The 2 control arms consisted of 35 children with myelomeningocele (MMC group) and 35 children with congenital anomalies other than central nervous system problems (control group). All groups were matched for age and visited the same hospital. A structured questionnaire was used for the collection of all data, including the mothers' weight and height during pregnancy, education, reproductive history, previous abortions, and socioeconomic status, as well as the parents' consanguinity and family history of the same anomalies. RESULTS: Univariate analysis of the children with LipoMMC compared to the control group showed that the use of periconceptional folic acid supplementation was significantly lower in the MMC and LipoMMC groups compared to the control group. In addition, comparison of the MMC and control groups revealed statistically significant differences regarding the use of folic acid and maternal obesity. In multivariate analysis, use of folic acid in the periconceptional period and during the first trimester was an independent risk factor for LipoMMC and MMC. Furthermore, maternal obesity was a significantly positive risk factor for MMC. CONCLUSION: The probable risk factors for LipoMMC were investigated in this case-control study. Consumption of folic acid in the periconceptional period and during the first trimester is an independent protective factor against LipoMMC. It seems that larger studies are needed to examine other possible risk factors.

Avaliação do conhecimento dos profissionais da saúde sobre a prevenção da mielomeningocele / Evaluating the knowledge of health professionals on the prevention of myelomeningocele / Evaluación del conocimiento de profesionales de salud sobre prevención de mielomeningocele

Objetivo: avaliar o conhecimento dos profissionais de saúde sobre a prevenção da mielomeningocele em Recife-PE,quanto à época, dosagem e período da utilização do ácido fólico e seu o real impacto como medida preventiva. Método:estudo do tipo coorte transversal, realizado nos distritos sanitários da cidade do Recife, no qual foram avaliados 90 profissionais de saúde envolvidos no atendimento pré-natal das unidades de saúde, entre janeiro e outubro de 2008 após aprovação pelo Comitê de Ética do Cisam n. 025/07, CAAE 0020.0.250.000-07. Resultados: 93% desses profissionais são do sexo feminino. A maioria é especializada em saúde da família, com experiência de mais de cinco anos em consultas de pré-natal, nas quais se prescreve o ácido fólico regularmente. No que se refere à autoavaliação sobre a importância do ácido fólico, 28% consideraram ter alto conhecimento e 69% consideraram ter razoável conhecimento. Conclusão: aqueles profissionais que estão há menos tempo no atendimento pré-natal têm um maior conhecimento do papel do ácido fólico na prevenção da mielomeningocele e que não houve associação estatisticamente significativa entre o tempo de atuação na área pré-natal e o uso correto do ácido fólico na gestação (p > 0,05).(AU)

Objective: to evaluate the knowledge of healthcare professionals on the prevention of myelomeningocele in Recife, Pernambuco, Brazil, with regard to time, dosage, and period for using folic acid, as well as its actual impact as a preventive measure. The study was approved by the Research Ethics Committee of Cisam/UPE under the Opinion 025/07, CAAE 0020.0.250.000-07. Method: this is a cross-sectional study, carried out in the sanitary districts of Recife city, in which 90 healthcare professionals (nurses and physicians) involved with prenatal care at health units were evaluated, between January and October 2008. Results: 93% of these professionals are women. Most of them is specialized in family health, with more than five years experience in prenatal care appointments, in which folic acid is regularly prescribed. With regard to the self-evaluation on the importance of folic acid, 28% considered themselves to have a great knowledge about it and 69% considered themselves to have a reasonable knowledge about it. Conclusion: those healthcare professionals who are less experienced in prenatal care have a greater knowledge on the role of folic acid for the prevention of myelomeningocele and that there was no statistically significant association between the length of experience in prenatal care and the correct use of folic acid during pregnancy (p > 0.05).(AU)

Objetivo: evaluar el conocimiento de los profesionales de la salud acerca de la prevención de la mielomeningocele en Recife, Pernambuco, Brasil, en cuanto a la época, dosificación y período del uso de ácido fólico y su impacto real como medida preventiva. Método: esto es un estudio de corte transversal, realizado en los distritos sanitarios de la ciudad de Recife, que evaluó a 90 profesionales de la salud (enfermeros y médicos) que trabajan con la atención prenatal de las unidades de salud, entre enero y octubre de 2008. Resultados: 93% de eses profesionales son mujeres. La mayoría es especializada en salud de la familia, con experiencia de más de cinco años en consultas prenatales, donde el ácido fólico es prescrito con regularidad. En lo que respecta a la autoevaluación acerca de la importancia del ácido fólico, 28% consideraron tener un profundo conocimiento y 69% consideraron tener un razonable conocimiento. Conclusión: aquellos profesionales que están trabajando hay menos tiempo con la atención prenatal tienen un mejor conocimiento del papel del ácido fólico en la prevención de mielomeningocele y que no hubo asociación estadísticamente significativa entre el tiempo de trabajo en la área de prenatal y el uso correcto del ácido fólico durante el embarazo (p > 0,05).(AU)

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

PURPOSE: In Denmark, prevention to reduce the spina bifida birth rate has focused on two areas: folic acid supplementation (1997) and changes in the national ultrasonography screening programme (2004). Myelomeningocele (MMC) is the most severe malformation among the spina bifidas. Taking into consideration the potential negative effect of high-dose folic acid consumption, we found a need to look into the effectiveness of these two strategies in our complete MMC population. METHODS: All spina bifida patients born in the western part of Denmark are differentiated into proper subgroups based on MR imaging, giving us a unique chance to study a true MMC population. The total number of the group of MMC children since 1983 is 121. One hundred and eight (89%) parents answered a questionnaire. RESULTS: Following the changes in the prenatal ultrasonography screening programme in 2004, a significant decline of 60% live birth MMC per year 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: Our findings demonstrate no effect of folic acid recommendation due to lack of compliance among women of reproductive age in Denmark. However, we found an improved early detection rate of prenatal MMC by high-quality ultrasonography. Subsequent early termination of pregnancy has led to a significant reduction of birth rate of babies with MMC.

[Prenatal techniques to prevent central nervous system malformations in the surgically induced model of myelomeningocele]. / El modelo de mielomeningocele en oveja presenta alteraciones cerebrales semejantes a las del humano y estas pueden ser prevenidas mediante cirugía fetal abierta.

AIM: To describe central nervous system malformations in the surgically induced model of Myelomeningocele (MMC) and their prevention using different prenatal treatments. METHODS: MMC was surgically created in 33 fetal lambs. Fifteen did not undergo fetal repair (group A). Of the lambs that did undergo repair, 10 were repaired with open two layer surgical closure (group B), 5 with fetoscopic coverage using bioglue (group C) and 3 fetoscopically using a patch (group D). All procedures were recorded and lamb brains and spinal cords were examined grossly and microscopically in coronal sections for structural organization anomalies. Histopathological changes were assessed using HE and S-100 neural marker. RESULTS: Hydrocephalus, Arnold-Chiari type II (AC-II) malformation and some neuronal migration disorders were observed in group A. Brains from group B and D were not hydrocephalic and had neither cell migration disorders nor hindbrain herniation. Group C presents mild degrees of hydrocephalus and AC-II. In group C lumbar lesion was covered by fibrous tissue. CONCLUSIONS: Some of the central nervous system abnormalities observed in human disease are present in the surgically induced model of MMC. In this model avoidance of fluid drainage using open fetal surgery limits malformation severity.

Control local de la carga bacteriana en un úlcera por presión infectada. Mediante un apósito hidropolimérico con plata iónica / Local control treatment of bacteria found present in an infected bed sore by means of a hydropolymer dressing with ionic silver

Todas las heridas crónicas presentan microorganismos en su superficie y, por ello, su contaminación es universal e inevitable, pero la mayoría no está infectada. Es importante, entonces, afinar el diagnóstico de infección identificando los microorganismos que han conseguido profundizar en tejidos submarginales, con el fin de prevenir tratamientos antibióticos innecesarios o inadecuados y minimizar las posibles complicaciones. Una carga bacteriana elevada, próxima a los 105 UFC por gramo de tejido, aunque no produzca manifestaciones clínicas de infección, puede interferir con los mecanismos reparadores impidiendo la cicatrización de la herida. A causa de esta dificultad para identificar de manera exacta los microorganismos causantes de la infección, los pacientes con sepsis relacionada con UPP son habitualmente tratados de manera empírica con antibióticos de amplio espectro, potencialmente más tóxicos y a menudo más caros. Pero es importante restringir el uso de antibióticos locales en el tratamiento de las heridas crónicas y priorizar la utilización de la limpieza y los diversos métodos de desbridamiento para reducir la carga bacteriana. El uso de antibióticos sistémicos debe limitarse a las indicaciones precisas, dado que hoy en día disponemos de alternativas al tratamiento con antibióticos tópicos, principalmente los apósitos que contienen plata(AU)

Every chronic wound has microorganisms present on its surface and therefore, its contamination is universal and unavoidable, but the majority of these wounds are not infected. It is important, therefore, to refine the diagnosis of infection indentifying the microorganisms which have succeeded in gaining access to the submarginal tissues in order to be able to prevent unnecessary or inappropriate antibiotic treatment and to lessen possible complications. A high level of bacteria present, close to 105 «UFC» per gram of tissue, even though this does not manifest a clinical infection, might interfere with the repair mechanisms and impede cicatrization of the wound. Due to this difficulty to identify in a precise manner the microorganisms which cause an infection, those patients who have sepsis related to bed sores are habitually treated empirically with wide spectrum range antibiotics, potentially more toxic and often more expensive. But it is important to restrict the use of local antibiotics when treating chronic wounds and to prioritize the use of cleaning methods and diverse debridement methods in order to lower the presence of bacteria. The use of systemic antibiotics should be limited to precise indications, considering that today we have at our disposal alternate treatments with topical antibiotics, principally dressings which contain silver(AU)

Myelomeningocoele in dizygotic twins.

BACKGROUND: Periconceptional use of folic acid can reduce a woman's risk of having a baby with a neural-tube defect and other congenital abnormalities. METHOD: Case reports of babies OO both males, who were delivered at term by emergency caesarean section by a 21 year old woman. At birth, both twins had neural tube defects, bilateral talipes equinovarusdeformity, bladder and bowel dysfunction. Twin one in addition had hydrocephalus and a ventriculoseptal heart defect (VSD). CONCLUSION: We advocate comprehensive neural tube defect (NTD) surveillance, a folic acidsupplementation program for high-risk women who have had a NTD-affectedpregnancy and a national folic acid education campaign for allwomen of reproductive age preconceptionally.

[Myelomeningocoele - how did the procedure during the first stage of surgical treatment change. Analysis of two groups of patients treated in the years 1986-1992 and 1999-2005]. / Przepuklina oponowo-rdzeniowa - jak zmienilo sie postepowanie podczas pierwszego etapu leczenia chirurgicznego wady. Ocena dwóch grup pacjentów leczonych w latach 1986-1992 oraz 1999-2005.

UNLABELLED: Myelomeningocoele is a serious congenital deformity requiring multidisciplinary medical care, and parent' s aware cooperation. The accessibility and popularity of foetal ultrasonography enables early prenatal diagnosis which makes possible optimal management during pregnancy and treatment after birth. AIM: Evaluation of the treatment of newborns with myelomeningocoele in the last 20 years in relation to the changes in diagnostics and operative procedures. MATERIAL AND METHODS: The evaluation was performed in 114 newborns, operated on because of myelomeningocoele between 1986-1992 (group I) and 1999-2005 (group II). Prenatal diagnosis, the term and kind of labour, anatomical description of deformity, the level of spinal cord damage were analyzed. Evaluation also included: the term and kind of operation, the presence of active hydrocephalus and its association with the anatomical picture of deformity, the strategy of shunt implantation and the number of deaths during the first hospitalization. Orthopaedic and urological problems were not evaluated. RESULTS: During twenty years, reduction in the number of patients with myelomeningocoele was not observed, despite the introduction of the programme of women' s folic acid prophylaxis. In two analyzed periods there were 8 new cases treated each year. The number of prenatal diagnoses increased: in group I prenatal diagnosis was made only in 8 cases (14%), in group II in 25 cases (44%), but in most cases diagnosis was established late (in the last 3 months of pregnancy). Analysis of different anatomical forms of the deformity showed, that the number of thoracic myelomeningocoeles decreased from 32 cases in group I to 18 cases in group II. In both groups operation was performed during 24 hours following admission of the newborn to the Institute. The surgical technique has not change: large skin defects were closed with the use of rhomboidal muscle and skin flap (Limberg' s plasty). The number of complications in wound healing decreased from 26.4% to 7%. Active hydrocephalus was confirmed in 49 of 57 patients in group I (85%) and in 46 of 57 patients in group II (80%). Patients without active hydrocephalus (group I - 8 children, group II - 11 children) presented lumbo-sacral or sacral localization of defect. In the years 1999-2005 (group II), contemporary with the operation of myelomeningocoele, Rickham reservoir was implanted in 11 newborns with massive hydrocephalus. The shunt was added after the confirmation of active hydrocephalus and after a negative result of cerebrospinal fluid culture. Decrease of deaths during the first hospitalization was observed (8 in group I, 2 in group II). The principal cause of death in both groups was inborn infection. CONCLUSIONS: 1. On the basis of own investigations the authors did not find positive results of introducing of women' s folic acid prophylaxis programme in Poland in the decrease of number of newborns, treated surgically on spina bifida in the Institute of Mother and Child. In the last years more often sacral and lumbo-sacral type of defects and, in consequence, more patients without active hydrocephalus are observed, which may be the result of parent' s decision about terminating of pregnancy in cases of high (thoracic) deformity. 2. In the years 1999-2005 the increasing number of prenatal ultrasonography is observed. However, the prenatal diagnosis of myelomeningocele in most cases is established late (in the third trimester). 3. Significant fall in the number of local and general complications of treatment is responsible for the decrease in mortality of the newborns with myelomeningoloele. The method of closing large skin defects using cutaneo-muscular rhomboidal flap, introduced in 1986, showed to be very effective in the prophylaxis of complications of wound healing. 4. Congenital intrauterine infection was the main cause of death of neonates with this deformity, what points to the necessity of regular bacteriological and serological diagnostics during pregnancy and proper perinatal treatment.

Defectos del tubo neural: epidemiología y factores perinatales asociados en fetos y recién nacidos / Neural tube defects: epidemiology and associated perinatal factors in fetuses and newborn infants

Objetivos: Estudiar la epidemiología de los defectos del tubo neural(DTN) diagnosticados en el Servicio de Neonatología del Hospital Clínico «San Carlos» (HCSC) de Madrid entre enero de 1983 y junio de 2005; describir la evolución neurológica y las complicaciones de los pacientes durante su ingreso en el Servicio de Neonatología; analizar el papel del sexo del recién nacido en relación con los DTN en el grupo de pacientes estudiado; e identificar las variables independientes relacionadas con la mortalidad. Material y métodos: Se ha realizado un estudio descriptivo, longitudinal, de casos clínicos, mediante la recogida de datos procedentes de las historias clínicas de los pacientes nacidos en el Servicio de Neonatología del HCSC de Madrid. Las variables cualitativas se expresan en porcentajes y las variables cuantitativas con sus medias y sus desviaciones estándar. Las diferencias entre variables cuantitativas son analizadas usando el test de la t de Student o un test no paramétrico de Mann-Whitney. Las diferencias entre las variables cualitativas se analizan mediante el test de la ji al cuadrado o el test de Fisher. Se ha considerado significativa una p <0,05. Se ha ajustado un modelo de regresión logística para evaluar los factores asociados al fallecimiento de estos pacientes. Resultados: Del total de 52.121 recién nacidos vivos, 38 presentaron un DTN. La incidencia global obtenida ha sido de 0,72 por cada 1.000 nacimientos; entre 1983 y 1994, fue de 0,94/1.000 y, entre 1995 y 2005, de 0,52/1.000 nacimientos. La relación mujer/hombre fue de 2/1 aproximadamente. Más del 50% fueron recién nacidos pretérmino. El 94% de las madres no habían tomado ácido fólico periconcepcionalmente. El defecto más habitual fue el mielomeningocele lumbosacro. Cerca del 85% fue intervenido quirúrgicamente en las primeras 48 horas de vida. El 63% presentó una exploración neurológica similar al ingreso y al alta. La mortalidad fue del 26%. Conclusiones: Existe una tendencia generalizada a la disminución progresiva de la incidencia de los DTN. Las niñas presentaron una menor edad gestacional media (p <0,05), un menor peso (p <0,012), un menor perímetro cefálico (p <0,05) y una menor talla (p <0,004). Las mujeres registraron una mayor mortalidad (p <0,03) y lesiones anatómicamente más altas (p <0,03). La mortalidad fue superior cuanto menor era la edad gestacional (p <0,001) y mayor la altura anatómica de la lesión (p<0,001). El único factor relacionado con la mortalidad de forma independiente fue la edad gestacional (odds ratio [OR]= 0,567; intervalo de confianza [IC] del 95%: 0,38-0,826; p <0,003). Dada la elevada morbimortalidad de estos defectos, la prevención constituye el aspecto fundamental en el manejo de estos trastornos (AU)

Aims: 1) To study the epidemiology of neural tube defects (NTDs) diagnosed in the Neonatology Department of Hospital Clínico San Carlos (HCSC) in Madrid, Spain, between January 1983 and June 2005. 2) To describe the progression of neurological disease and complications arising in these patients during their stay in the Neonatology Department. 3) To analyze the association between sex and the development of NTD. 4) To identify the independent variables related to mortality. Materials and methods: A descriptive, longitudinal study was undertaken, collecting data from the clinical histories of the neonates born in the Neonatology Department of HCSC. Qualitative variables were expressed as percentages and quantitative variables as means and standard deviations. The differences between quantitative variables were analyzed using Student’s t test or the non-parametric Mann-Whitney test. The differences between qualitative variables were analyzed using the c2 or Fisher’s test. Significance was set at p<0.05. Logistic regression analysis was used to determine the factors associated with death. Results: The study involved 52,121 live newborns, 38 of whom had a NTD. The overall incidence was 0.72 per 1000 births. Between 1983 and 1994, we recorded an incidence of0. 94/1000, which fell to 0.52/1000 between 1995 and 2005.The male/female ratio was approximately 2:1. More than 50%of those born with a NTD were premature. Ninety-four percent of the mothers who gave birth to a child with a NTD did not take folic acid prior to conception. The most common defect was lumbosacral myelomeningocele. Nearly 85% underwent surgery within the first 48 h of life. The results of neurological exploration were similar at admission and release in 63%.Mortality was 26%.Conclusions: A progressive reduction in the incidence of NTDs was seen. Girls born with NTDs had a younger mean gestational age (p <0.05), weighed less (p <0.012), had a smalleroccipitofrontal circumference (p <0.05) and a shorter birth length (p <0.004) than boys. The mortality rate in girls was greater (p <0.03) and they were more likely to have anatomically higher lesions (p <0.03). Mortality increased with decreasing gestational age (p <0.001) and with increasing anatomical height of the lesion (p <0.001). The only factor independently associated with mortality was gestational age (odds ratio:0.567; 95% confidence interval: 0.38-0.826; p <0.003). Given the high morbidity and mortality rates associated with these defects, prevention is essential (AU)

Impact of folic acid food fortification on the birth prevalence of lipomyelomeningocele in Canada.

BACKGROUND: Recent studies reported no reduction in the frequency of lipomeningomyelocele (LMMC) in Hawaii and Nova Scotia after the implementation of a folic acid food fortification policy in 1998, while a marked reduction in the prevalence of other NTDs was observed. This study was performed to assess the prevalence of LMMC in Canada in relation to the timing of food fortification. METHODS: The study population included livebirths, stillbirths, and terminations of pregnancies because of fetal anomaly to women residing in seven Canadian provinces, from 1993 to 2002. In each province, the ascertainment of NTD cases relied on multiple sources, and in addition all medical charts were reviewed. The study period was divided into pre-, partial, and full fortification periods, based on results of red cell folate tests published in the literature. RESULTS: A total of 86 LMMC cases were recorded among approximately 1.9 million live births. The average birth prevalence rate was 0.05/1,000, ranging from a minimum of 0.01/1,000 in 2002 to a maximum of 0.08/1,000 in 1999. There was statistical heterogeneity between years (p = .01), but no pattern compatible with a decrease following fortification. Comparing the full fortification period with the prefortification period, there was a slight but not statistically significant decrease in LMMC birth prevalence. CONCLUSIONS: LMMC seems to be pathogenically distinct from myelomeningocele and more studies are needed to understand the embryologic mechanisms leading to this condition, and the environmental and genetic factors involved in its etiology.

Myelomeningocele: a review of the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals.

UNLABELLED: Although the use of folic acid before conception decreases the chance that a fetus will have an open neural tube defect, this condition still affects 0.5-1.0/1000 pregnancies in the United States. Results of a recent survey suggest that there are gaps in obstetrician-gynecologists' knowledge of risk factors for conception, strategies for prenatal diagnosis, and prognosis for affected individuals. To address these gaps this paper reviews the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals, presents current information, and makes suggestions for expanding obstetrician-gynecologists' knowledge of myelomeningocele. TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians. LEARNING OBJECTIVES: After completion of this article, the reader should be able to state that despite a large amount of professional and public education on the use of folic acid in prevention of open neural tube defects (ONTDs) the incidence still affects 0.5-1.0/1000 pregnancies and recall that a recent survey conducted by the ACOG shows substantial misunderstanding and misinformation on major categories of neural tube birth defects.

Ineffectiveness of dietary folic acid supplementation on the incidence of lipomyelomeningocele: pathogenetic implications.

OBJECT: Periconceptual folic acid supplementation is effective in myelomeningocele prevention. The relationship between folic acid and lipomyelomeningocele (LMM) and the overall incidence of this occult form of spina bifida has never been studied. The objectives of this study were to determine the impact of dietary folic acid supplementation on the incidence of LMM and to measure its overall incidence. METHODS: In a retrospective population-based study the authors calculated the incidence of LMM in Nova Scotia between 1985 and 2001. Because of changes in public policy during this period, there are three intervals defined in relation to the treatment of the food supply with folic acid: 1) prior to folic acid fortification (1985-1994); 2) postsupplementation but prefortification (1995-1998); and 3) postfortification. The overall incidence of LMM in Nova Scotia between 1985 and 2001 was 16 per 100,000 live births or one case per 6121 live births. Its incidence between 1985 and 1994 was 15 per 100,000 live births, and between 1995 and 1998 it was 12 per 100.000 live births (relative risk [RR] 0.82, 95% confidence interval [CI] 0.31-2.22; p = 0.7). Between 1999 and 2001, the incidence of LMM was 29 per 100,000 live births, which was not significantly different from that between 1995 and 1998 (RR 2.41. 95% CI 0.79-7.36; p = 0.11) or between 1985 and 1994 (RR 1.98, 95% CI 0.86-4.56; p = 0.1). CONCLUSIONS: The overall incidence of LMM between 1985 and 2001 in Nova Scotia was 16 per 100,000 live births and has not been reduced by dietary folic acid supplementation. This finding provides epidemiological evidence that the embryogenesis of LMM is fundamentally different from that of myelomeningocele.