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Myelomeningocele (MMC) is an in-utero closure defect of the posterior portion of the neural tube, and it is the most common neural tube defect (NTD) compatible with life. It is usually associated with other congenital malformations, such as hydrocephalus and Chiari type 2 syndrome. Therefore, the long-term outcome depends on early repair, and the surgery is urgently scheduled. Newborns with MMC are a special population that requires meticulous preoperative preparation to maintain hemodynamic stability during the procedure and a favorable outcome. In this case report, we describe the challenges of unruptured myelomeningocele closure surgery in a newborn with 12 hours of life. This special case emphasizes the importance of a multidisciplinary approach between anesthesiologists, neurosurgeons, and plastic surgeons to provide the best care to this subset of patients.

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OBJECTIVE: To evaluate the association between wildfire exposure in pregnancy and spina bifida risk. METHODS: This retrospective cohort study used the California Office of Statewide Health Planning and Development Linked Birth File with hospital discharge data between 2007 and 2010. The Birth File data were merged with the California Department of Forestry and Fire Protection data of the same year. Spina bifida was identified by its corresponding ICD-9 code listed on the hospital discharge of the newborn. Wildfire exposure was determined based on the zip code of the woman's home address. Pregnancy was considered exposed to wildfire if the mother lived within 15 miles of a wildfire during the pregnancy or within 30 days prior to pregnancy. RESULTS: There were 2,093,185 births and 659 cases of spina bifida between 2007 and 2010. The births were analyzed using multivariable logistic regression models and adjusted for potential confounders. Exposure to wildfire in the first trimester was associated with higher odds of spina bifida (aOR= 1.43 [1.11-1.84], p-value = 0.01). Wildfire exposure 30 days before the last menstrual period and during the second and third trimesters were not associated with higher spina bifida risk. CONCLUSION: Wildfire exposure has shown an increased risk of spina bifida during the early stages of pregnancy.

Asunto(s)

Disrafia Espinal , Incendios Forestales , Humanos , Femenino , Disrafia Espinal/epidemiología , Embarazo , Estudios Retrospectivos , Adulto , California/epidemiología , Incendios Forestales/estadística & datos numéricos , Recién Nacido , Adulto Joven , Factores de Riesgo , Exposición Materna/efectos adversos , Exposición Materna/estadística & datos numéricos , Características de la Residencia/estadística & datos numéricos

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Background: Myelomeningocele is a severe and complex congenital malformation of the central nervous system. Failure of neural tube closure at around four weeks of gestation results in an open communication between the neural placode and the external environment with varied functional impairment. Surgery is usually required. Objectives: The primary goals of surgical management are to preserve neural function and minimise infection. Reconstruction is dependent upon the site and size of the defect as well as the quality of the surrounding soft tissues. Surgeons may employ a range of reconstructive techniques in order to achieve closure. Skin substitutes, also known as dermal regeneration templates, have also been utilised. Discussion: In our unit, we use NovoSorb Biodegradable Temporising Matrix to reconstruct full-thickness skin and soft tissue defects. It is a synthetic, biodegradable, dermal regeneration template, composed of polyurethane foam bonded to a transparent sealing membrane and typically requires a two stage reconstruction. Integration and vascularisation take approximately three weeks. After this time, the recipient wound bed is suitable for split thickness skin grafting. A further benefit of dermal regeneration templates is the possibility of 'stacking' layers, which serves to increase the thickness of the final construct and to minimise overall contour defects. The authors present the case of a one-day-old full-term neonate with a large lumbosacral myelomeningocele that was successfully managed with staged, stacked NovoSorb Biodegradable Temporising Matrix and split thickness skin grafting. The authors believe this is the first case in which a 'stacked' dermal regeneration templates has been used to achieve healing of a primary myelomeningocele defect. Lay Summary: Background: NovoSorb Biodegradable Temporising Matrix (BTM) is a dermal regeneration template (DRT) and is used to reconstruct wounds following full-thickness skin and soft tissue loss resulting from burn injury, trauma, infection or surgery. It is composed of 2-millimetre thick, synthetic, biodegradable polyurethane foam bonded to a transparent (non-biodegradable) sealing membrane. Like all DRTs, it acts as a scaffold for cellular integration and vascularisation to eventually form a 'neo-dermis'. This is usually apparent from around three weeks. A second stage procedure can then be performed, with removal of the outer sealing membrane and split thickness skin grafting of the vascularised layer.Objectives: Myelomeningocele is a severe and complex congenital malformation of the central nervous system and forms the group of anomalies commonly referred to as neural tube defects (NTDs). Neural tube closure usually occurs at around four weeks of gestation and failure to do so, results in an open communication between the neural placode and the external environment. The degree of functional impairment varies but can include: lower limb paralysis; sensory loss; bladder and bowel dysfunction. In order to preserve neural function and minimise the risk of infection, surgery is usually required to close the defect. Reconstruction is varied and is dependent upon the site and size of the defect as well as the quality of the surrounding soft tissues. The use of local flaps has the potential complication of skin necrosis. Muscle based flaps may be debilitating and limit future functionality and worsen postural development. We were presented with a one-day-old neonate with a large lumbosacral myelomeningocele. A DRT (NovoSorb BTM) was selected as the primary reconstruction. Firstly, selection provided relatively low risk, with minimal morbidity and preserved the full complement of flap based reconstructive options for a later stage should instrumentation be required. Secondly, NovoSorb BTM conferred a robust seal over the dural repair with no demonstrable cerebrospinal fluid leak. Thirdly, the ability to add layers ('stack') of NovoSorb BTM in stages, once integration and vascularisation of the previous layer is complete, allows reconstruction of deeper contour defects.Discussion: We have illustrated the successful use of NovoSorb BTM as a DRT to achieve closure of a large lumbosacral myelomeningocele without complication and with longstanding stability. We believe this technique provides reconstructive teams with an alternative option that is effective, safe and reproducible and which spares local tissues for future elective reconstructive procedures, should they be required.

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SARS-CoV-2 infection during pregestational and early pregnancy periods has an unclear impact on fetal development. Although vertical transmission is rare, potential effects on the developing fetal brain are plausible. However, robust evidence linking maternal SARS-CoV-2 infection to congenital anomalies is limited due to inadequate tracking of infection history and methodological flaws in published studies. This is further complicated by limitations, such as restricted testing access and undiagnosed infections, particularly in low- and middle-income countries. Most data focus on hospitalized women near term, lacking information on first- and second-trimester infections. Thus, an accurate assessment of the impact of COVID-19 on congenital anomalies is essential. It should however be emphasised that we have robust evidence that vaccination against COVID-19 before or during early pregnancy is not associated with malformations, ruling out any role of COVID-19 vaccines in these increased rates of congenital abnormalities. This viewpoint discusses findings from surveillance registries, highlights study limitations, and offers research recommendations to inform clinical guidelines and public health strategies, aiming to mitigate the effects of viral infections on early neurodevelopment.

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BACKGROUND: Previous reviews explored the association between maternal use of folic acid and multivitamin supplements and risk of neural tube defect (NTD) in children, with no definitive conclusion. These reviews had produced contradictory results, and there had been no umbrella review. Therefore, the objective of this umbrella review is to combine the inconsistent data on the effect of prenatal folic acid and/or multivitamin supplementation for the prevention of NTD in offspring. METHODS: Using the PRISMA guideline, PubMed, Embase, Scopus, Web of Sciences, Cochrane Database of Systematic Reviews, Scopus, and Google Scholar reported that the effects of folic acid and/or multivitamin supplementation for the prevention of NTD in offspring were searched. The quality of the included studies was assessed using Assessment of Multiple Systematic Reviews (AMSTAR). A weighted inverse variance random-effects model was applied to find the pooled estimates. The subgroup analysis, heterogeneity, publication bias, and sensitivity analysis were also assessed. RESULT: Ten SRM with 296,816 study participants were included. The random-effects model analysis from 10 included systematic review and meta-analysis revealed that the pooled effect of either folic acid or multivitamin supplementation for the prevention of NTD globally is found to be 0.43 (95% CI: 0.29, 0.58) (I2 = 93.50%; p ≤0.001). In the subgroup analysis, the pooled effect was found to be 0.23 (0.09, 0.37) in folic acid group, while this estimate is 0.63 (0.53, 0.72) and 0.61 (0.46, 0.75) in groups who took multivitamin. The pooled effect of prevention of NTD was found to be 0.50 (0.34, 0.66) in SRMs aimed at occurrence prevention (primary prevention) group, while this estimate is 0.20 (-0.01, 0.41) among SRMs, which aimed at reoccurrence (secondary) prevention, and 0.61 (0.46, 0.75) among those SRMs aimed to assess the effect folic acid or multivitamin for the prevention of both occurrence and reoccurrence. The pooled effect of either folic acid or multivitamin supplementation for the prevention of NTD was found to be 0.45 (0.03, 0.87) in SRMs of observational studies, while this estimate is 0.43 (0.32, 0.54) among SRMs of randomized controlled trials. CONCLUSION: This umbrella review of systematic review and meta-analysis found that prenatal folic acid and/or multivitamin supplementation was associated with a 57% reduction in NTD. Participants who took folic acid supplementation were associated with a slightly higher (77%) percentage of reduction in NTD compared with those who took multivitamin (37%). Reductions of 80% and 50% were observed for reoccurrence and occurrence prevention of NTD. Reductions of 57% and 55% of NTD have been found in SRM of RCTs and observational studies. This umbrella review revealed that both folic acid and multivitamin were associated with significantly lower levels of NTD in children. Considering the incorporation of those supplements in NTD prevention strategies during the preconception period is recommended. More large-scale prospective cohort and RCTs are needed to understand the protective effect of multivitamins and/or folic acid on NTD risk addressing the molecular mechanisms and to determine the optimal dose, duration, and timing of maternal multivitamin and folic acid intake for best child NTD risk reduction.

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BACKGROUND: Beyond 18 weeks of gestation, an increased size of the fetal lateral ventricles is reported in most fetuses with open spina bifida. In the first trimester of pregnancy, the definition of ventriculomegaly is based on the ratio of the size of the choroid plexus to the size of the ventricular space or the entire fetal head. However, contrary to what is observed from the midtrimester of pregnancy, in most fetuses with open spina bifida at 11 to 13 weeks of gestation, the amount of fluid in the ventricular system seems to be reduced rather than increased. OBJECTIVE: This study aimed to compare the biometry of the lateral ventricles at 11 0/7 to 13 6/7 weeks of gestation between normal fetuses and those with confirmed open spina bifida. STUDY DESIGN: This was a retrospective cohort study that included all cases of isolated open spina bifida detected at 11 0/7 to 13 6/7 weeks of gestation over a period of 5 years and a group of structurally normal fetuses attending at our center over a period of 1 year for the aneuploidy screening as controls. Transventricular axial views of the fetal brain obtained from cases and controls were extracted from the archive for post hoc measurement of cerebral ventricles. The choroid plexus-to-lateral ventricle length ratio, sum of the choroid plexus-to-lateral ventricle area ratio, choroid plexus area-to-fetal head area ratio, and mean choroid plexus length-to-occipitofrontal diameter ratio were calculated for both groups. The measurements obtained from the 2 groups were compared, and the association between each parameter and open spina bifida was investigated. RESULTS: A total of 10 fetuses with open spina bifida were compared with 358 controls. Compared with controls, fetuses with open spina bifida showed a significantly smaller size of the cerebral ventricle measurements, as expressed by larger values of choroid plexus-to-lateral ventricle area ratio (0.49 vs 0.72, respectively; P<.001), choroid plexus-to-lateral ventricle length ratio (0.70 vs 0.79, respectively; P<.001), choroid plexus area-to-fetal head area ratio (0.28 vs 0.33, respectively; P=.006), and choroid plexus length-to-occipitofrontal diameter ratio (0.52 vs 0.60, respectively; P<.001). The choroid plexus-to-lateral ventricle area ratio was found to be the most accurate predictor of open spina bifida, with an area under the curve of 0.88, a sensitivity of 90%, and a specificity of 82%. CONCLUSION: At 11 0/7 to 13 6/7 weeks of gestation, open spina bifida is consistently associated with a reduced amount of fluid in the lateral cerebral ventricles of the fetus, as expressed by a significantly increased choroid plexus-to-lateral ventricle length ratio, choroid plexus-to-lateral ventricle area ratio, choroid plexus area-to-fetal head area ratio, and choroid plexus length-to-occipitofrontal diameter ratio.

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Objectives: Maternal smoking is a potent teratogen among congenital malformations, however its role in the development of Neural Tube Defects (NTDs) is still unclear. In this systematic review, we intend to further investigate the interaction of smoking during pregnancy and the incidence of NTDs. Materials & Methods: This article was written according to PRISMA criteria from February 2015 and August 2022. After examining the four stages of PRISMA criteria, we selected clinical articles. These articles were selected from PubMed, Scopus and Google scholar (for results follow-up) databases. We gathered NTDs effect and types, smoking type and habit of parents, from neonates. Results: Eventually, 8 articles were included by two separated authors, Smoking was associated with an increase NTDs in the population of pregnant mothers and also among children whose fathers smoked. The main side effects that were considered to be the cause of NTDs besides smoking were alcohol and BMI (18.5-24.9). Smoking also affects the level of folic acid as a substance with an essential role that affects the closure of the neural tube. folic acid available to infants changing along with the level of other blood elements such as zinc, that necessary prevent for NTDs condition. Conclusion: Parental smoking can be considered as one of the strong teratogens in the occurrence of NTDs. Smoking, whether active or passive by the mother, or by the father, is associated with the occurrence of NTDs, In order to reduce the prevalence this disorder, we advise pregnant mothers and neonate's fathers to quit smoking.

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BACKGROUND: Chiari malformation type II (CMII) was originally reported in humans as a rare disorder characterized by the downward herniation of the hindbrain and towering cerebellum. The congenital brain malformation is usually accompanied by spina bifida, a congenital spinal anomaly resulting from incomplete closure of the dorsal aspect of the spinal neural tube, and occasionally by other lesions. A similar disorder has been reported in several animal species, including cattle, particularly as a congenital syndrome. A cause of congenital syndromic Chiari-like malformation (CSCM) in cattle has not been reported to date. We collected a series of 14 CSCM-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). WGS was performed on 33 cattle, including eight cases with parents (trio-based; group 1), three cases with one parent (group 2), and three single cases (solo-based; group 3). RESULTS: Sequencing-based genome-wide association study of the 13 Holstein calves with CSCM and 166 controls revealed no significantly associated genome region. Assuming a single Holstein breed-specific recessive allele, no region of shared homozygosity was detected suggesting heterogeneity. Subsequent filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case 13 in group 3. Furthermore, these two variants were only observed in Holstein cattle when querying WGS data of > 5,100 animals. Alternatively, potential de novo mutational events were assessed in each case. Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3. Finally, the presence of larger structural DNA variants and chromosomal abnormalities was investigated in all cases. Depth of coverage analysis revealed two different partial monosomies of chromosome 2 segments in cases 1 and 7 in group 1 and a trisomy of chromosome 12 in the WDR45B homozygous case 13 in group 3. CONCLUSIONS: This study presents for the first time a detailed genomic evaluation of CSCM in Holstein cattle and suggests an unexpected genetic and allelic heterogeneity considering the mode of inheritance, as well as the type of variant. For the first time, we propose candidate causal variants that may explain bovine CSCM in a certain proportion of affected calves. We present cattle as a large animal model for human CMII and propose new genes and genomic variants as possible causes for related diseases in both animals and humans.

Asunto(s)

Malformación de Arnold-Chiari , Enfermedades de los Bovinos , Estudio de Asociación del Genoma Completo , Animales , Bovinos/genética , Enfermedades de los Bovinos/genética , Enfermedades de los Bovinos/congénito , Enfermedades de los Bovinos/patología , Malformación de Arnold-Chiari/veterinaria , Malformación de Arnold-Chiari/genética , Femenino , Estudio de Asociación del Genoma Completo/veterinaria , Masculino , Secuenciación Completa del Genoma/veterinaria

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BACKGROUND: Our aim was to evaluate the prevalence, mortality, regional and sex distribution of neural tube defects (NTDs) in Finland. METHODS: Data for this population-based study were collected from 1987 to 2018 from the national health and social welfare registers. RESULTS: There were in total 1634 cases of NTDs, of which 511 were live births, 72 pregnancies ended in stillbirth and 1051 were terminations of pregnancy due to fetal anomaly (TOPFA). The total prevalence of NTDs was 8.6 per 10 000 births and it increased slightly annually (OR 1.008; 95% CI: 1.002, 1.013) during the 32-year study period. The birth prevalence of NTDs decreased (OR 0.979; 95% CI: 0.970, 0.987), but the prevalence of TOPFA increased annually (OR 1.024; 95% CI 1.017, 1.031). The perinatal mortality of NTD children was 260.7 per 1000 births and the infant mortality was 184.0 per 1000 live births, whereas these measures in the general population were 4.6 per 1000 births and 3.3 per 1000 live births, respectively. There was no difference in the NTD prevalence between males and females (P-value 0.77). The total prevalence of NTDs varied from 7.1 to 9.4 per 10 000 births in Finland by region. CONCLUSIONS: Although the majority of NTDs are preventable with an adequate folic acid supplementation, the total prevalence increased in Finland during the study period when folic acid supplementation was mainly recommended to high-risk families and to women with folic acid deficiency. NTDs remain an important cause of infant morbidity and mortality in Finland.

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Defectos del Tubo Neural , Sistema de Registros , Mortinato , Humanos , Finlandia/epidemiología , Femenino , Defectos del Tubo Neural/epidemiología , Masculino , Prevalencia , Recién Nacido , Embarazo , Mortinato/epidemiología , Lactante , Distribución por Sexo , Nacimiento Vivo/epidemiología , Mortalidad Infantil/tendencias , Adulto , Mortalidad Perinatal/tendencias

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Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs. Both calves had spina bifida on the spinal lumbar segment and were submitted to euthanasia due to poor prognosis. Postmortem examination revealed cerebellar herniation, caudal displacement of the brainstem, rostral deviation of the cranial nerves, caudal extension of occipital lobes, absence of dorsal lamina of lumbar vertebrae with exposed spinal cord, myelodysplasia, kyphosis, segmental spinal agenesis, renal fusion, muscular atrophy, and arthrogryposis. Histology highlighted myelodysplasia (syringomyelia and diplomyelia) and muscular atrophy. The reverse transcription-polymerase chain reactions for ruminant pestivirus were negative. Based on these lesions, the diagnosis of complex neural tube and skeletal malformations was made. A review of previous publications on calves diagnosed with these malformations, originally called Chiari or Arnold-Chiari malformations, revealed a wide range of nervous system and skeletal lesions. These variations amplified the uncertainty regarding whether all cases represent the same disorder and reinforced the importance of reconfiguring the terminology.

Asunto(s)

Malformación de Arnold-Chiari , Enfermedades de los Bovinos , Animales , Bovinos , Femenino , Enfermedades de los Bovinos/diagnóstico , Enfermedades de los Bovinos/patología , Enfermedades de los Bovinos/congénito , Malformación de Arnold-Chiari/veterinaria , Defectos del Tubo Neural/veterinaria , Defectos del Tubo Neural/diagnóstico , Defectos del Tubo Neural/patología , Animales Recién Nacidos , Brasil

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INTRODUCTION: Spina bifida (SB) occurs in 3.5/10,000 live births and is associated with significant long-term neurologic and urologic morbidity. We explored the characteristics and outcomes of pediatric patients with SB and the facilities that treat them in Texas. METHODS: We retrospectively reviewed a statewide hospital inpatient discharge database (2013-2021) to identify patients aged <18 y with SB using International Classification of Diseases 9/10 codes. Patients transferred to outside hospitals were excluded to avoid double-counting. Descriptive statistics and chi-square test were performed. RESULTS: Seven thousand five hundred thirty one inpatient hospitalizations with SB were analyzed. Most SB care is provided by a few facilities. Two facilities (1%) averaged >100 SB admissions per year (33% of patients), while 15 facilities (8%) treat 10-100 patients per year (51% of patients). Most facilities (145/193, 75%) average less than one patient per year. Infants tended to be sicker (17% extreme illness severity, P < 0.001). Overall mortality is low (1%), primarily occurring in the neonatal period (8%, P < 0.001). Most admissions are associated with surgical intervention, with 63% of encounters having operating room charges with an average cost of $25,786 ± 24,884. Admissions for spinal procedures were more common among infants, whereas admissions for genitourinary procedures were more common among older patients (P < 0.001). The average length of stay was 8 ± 16 d with infants having the longest length of stay (19 ± 33, P < 0.001). CONCLUSIONS: Patients have significant long-term health needs with evolving pediatric surgical indications as they grow. Pediatric SB care is primarily provided by a small number of facilities in Texas. Longitudinal care coordination of their multidisciplinary surgical care is needed to optimize patient care.

Asunto(s)

Disrafia Espinal , Humanos , Disrafia Espinal/terapia , Disrafia Espinal/mortalidad , Texas/epidemiología , Estudios Retrospectivos , Femenino , Niño , Masculino , Lactante , Adolescente , Preescolar , Recién Nacido , Tiempo de Internación/estadística & datos numéricos , Tiempo de Internación/economía , Hospitalización/estadística & datos numéricos , Hospitalización/economía , Resultado del Tratamiento

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Neural tube defects (NTDs), which are caused by impaired embryonic neural tube closure, are one of the most serious and common birth defects. Peptidyl-prolyl cis/trans isomerase 1 (Pin1) is a prolyl isomerase that uniquely regulates cell signaling by manipulating protein conformation following phosphorylation, although its involvement in neuronal development remains unknown. In this study, we explored the involvement of Pin1 in NTDs and its potential mechanisms both in vitro and in vivo. The levels of Pin1 expression were reduced in NTD models induced by all-trans retinoic acid (Atra). Pin1 plays a significant role in regulating the apoptosis, proliferation, differentiation, and migration of neurons. Moreover, Pin1 knockdown significantly was found to exacerbate oxidative stress (OS) and endoplasmic reticulum stress (ERs) in neuronal cells. Further studies showed that the Notch1-Nrf2 signaling pathway may participate in Pin1 regulation of NTDs, as evidenced by the inhibition and overexpression of the Notch1-Nrf2 pathway. In addition, immunofluorescence (IF), co-immunoprecipitation (Co-IP), and GST pull-down experiments also showed that Pin1 interacts directly with Notch1 and Nrf2. Thus, our study suggested that the knocking down of Pin1 promotes NTD progression by inhibiting the activation of the Notch1-Nrf2 signaling pathway, and it is possible that this effect is achieved by disrupting the interaction of Pin1 with Notch1 and Nrf2, affecting their proteostasis. Our research identified that the regulation of Pin1 by retinoic acid (RA) and its involvement in the development of NTDs through the Notch1-Nrf2 axis could enhance our comprehension of the mechanism behind RA-induced brain abnormalities.

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Peptidilprolil Isomerasa de Interacción con NIMA , Defectos del Tubo Neural , Tretinoina , Animales , Femenino , Humanos , Ratones , Apoptosis/efectos de los fármacos , Diferenciación Celular/efectos de los fármacos , Movimiento Celular/efectos de los fármacos , Proliferación Celular/efectos de los fármacos , Regulación hacia Abajo/efectos de los fármacos , Estrés del Retículo Endoplásmico/efectos de los fármacos , Tubo Neural/metabolismo , Tubo Neural/efectos de los fármacos , Defectos del Tubo Neural/metabolismo , Defectos del Tubo Neural/genética , Defectos del Tubo Neural/inducido químicamente , Neuronas/metabolismo , Neuronas/efectos de los fármacos , Factor 2 Relacionado con NF-E2/metabolismo , Factor 2 Relacionado con NF-E2/genética , Peptidilprolil Isomerasa de Interacción con NIMA/metabolismo , Peptidilprolil Isomerasa de Interacción con NIMA/genética , Estrés Oxidativo/efectos de los fármacos , Receptor Notch1/metabolismo , Receptor Notch1/genética , Transducción de Señal/efectos de los fármacos , Tretinoina/metabolismo , Tretinoina/farmacología

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Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis. It's a preventable neural tube defect (NTD) with timely intake of folic acid, is caused by the incomplete closure of the neural tube during fetal development, resulting in the absence of the cerebrum (responsible for thinking and coordination) and the front part of the brain (forebrain) in affected infants. While anencephaly in a triplet is scarcely reported, spontaneous reabsorption of an anencephalic fetus in utero is a rare and unexpected event, with no documented cases in triplet pregnancies until now. We report a case of anencephaly in a triplet pregnancy where the mother presented late during her third trimester, the reabsorption of the anencephalic fetus in utero is an unprecedented event, highlighting the unique nature of this triplet pregnancy.

Asunto(s)

Meningomielocele , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Meningomielocele/complicaciones , Meningomielocele/diagnóstico , Defectos del Tubo Neural/diagnóstico

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A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two or three layers: endoderm, mesoderm, and ectoderm. It is a rare, benign transformation of somatic tissue most commonly found in the sacrococcygeal region and may resemble an uncomplicated spina bifida on prenatal ultrasonography. In this case report, we describe a female newborn with an extremely rare mature cystic teratoma in the thoracolumbar region. She presented prenatally with a preliminary diagnosis of meningomyelocele, diastematomyelia, and Chiari II malformation and a possible teratoma. However, a mass containing solid glandular tissues and bony calcifications approximately 3 × 4 cm in size was observed in the thoracolumbar region upon birth. During surgical resection, no nerve roots were found in the associated meningocele. The patient retained full lower body function postoperatively following surgical excision of the thecal sac and teratoma.

Asunto(s)

Meningomielocele , Teratoma , Humanos , Teratoma/cirugía , Teratoma/diagnóstico por imagen , Meningomielocele/cirugía , Meningomielocele/diagnóstico por imagen , Femenino , Recién Nacido , Diagnóstico Prenatal/métodos , Embarazo , Vértebras Torácicas/diagnóstico por imagen , Vértebras Torácicas/cirugía , Vértebras Lumbares/cirugía , Vértebras Lumbares/diagnóstico por imagen , Adulto , Ultrasonografía Prenatal

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BACKGROUND: Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion. OBSERVATIONS: This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism. LESSONS: Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.

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A cerebrospinal-fluid-related (CSF-related) problem occurred in 25-30% of frontoethmoidal encephalocele (FEE) cases. Since there was no algorithm or guideline, the judgment to treat the CSF-related problem often relies upon the surgeon's experience. In our institution, the early shunt was preferable to treat the problem, but it added risks to the children. We developed an algorithm, "Shunt Algorithm for Frontoethmoidal Encephalocele" (SAFE), to guide the surgeon in making the most reasonable decision. To evaluate the SAFE's efficacy in reducing unnecessary early shunting for FEE with CSF-related intracranial abnormality. Medical records of FEE patients with CSF-related abnormalities treated from January 2007 to December 2019 were reviewed. The patients were divided into two groups: before the SAFE group as group 1 (2007 - 2011) and after the SAFE group as group 2 (2012 - 2019). We excluded FEE patients without CSF-related abnormalities. We compared the number of shunts and the complications between the two groups. One hundred and twenty-nine patient's medical records were reviewed. The males were predominating (79 versus 50 patients) with an average age of 58.2±7.1 months old (6 to 276 months old). Ventriculomegaly was found in 18 cases, arachnoid cysts in 46 cases, porencephalic cysts in 19 cases, and ventricular malformation in 46 cases. Group 1, with a score of 4 to 7 (19 cases), received an early shunt along with the FEE repair. Complications occurred in 7 patients of this group. Group 2, with a score of 4-7, received shunts only after the complication occurred in 3 cases (pseudomeningocele unresponsive with conservative treatment and re-operation in 2 cases; a sign of intracranial hypertension in 1 case). No complication occurred in this group. Groups 1 and 2, with scores of 8 or higher (6 and 8 cases, respectively), underwent direct shunt, with one complication (exposed shunt) in each group. The SAFE decision algorithm for FEE with CSF-related intracranial abnormalities has proven effective in reducing unnecessary shunting and the rate of shunt complications.

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Hidrocefalia , Hipertensión Intracraneal , Niño , Masculino , Humanos , Preescolar , Encefalocele/diagnóstico , Encefalocele/cirugía , Hidrocefalia/cirugía , Encéfalo/cirugía , Hipertensión Intracraneal/cirugía , Procedimientos Neuroquirúrgicos , Derivaciones del Líquido Cefalorraquídeo , Estudios Retrospectivos

RESUMEN

PURPOSE: To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology. METHODS: We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities. RESULTS: Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17). CONCLUSION: The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.

Asunto(s)

Anomalías Múltiples , Hernia Diafragmática , Lipoma , Meningocele , Defectos del Tubo Neural , Disrafia Espinal , Niño , Humanos , Columna Vertebral/anomalías , Médula Espinal/patología , Meningocele/patología , Defectos del Tubo Neural/patología , Imagen por Resonancia Magnética

RESUMEN

BACKGROUND AND PURPOSE: Spina bifida is the second major cause of congenital disorders and the most common central nervous system congenital malformation compatible with life primarily. Herein, we describe the short-term outcome of post-natal Myelomeningocele (MMC) surgical management and predictors of its postoperative complications and mortality. METHODS: This retrospective chart review studies the children who underwent post-natal surgical management for MMC in Namazi hospital, a tertiary referral center, in southern Iran from May 2001 to September 2020. RESULTS: 248 patients were included in this study. The mean age at the operation was 8.47 ± 8.69 days. The most common site of involvement of MMC was Lumbosacral (86%, n = 204). At the evaluation conducted prior to the operation, cerebrospinal fluid leak was observed in 7% (n=16) of the patients. Postoperatively, 5.7% of the patients expired in the 30-day follow-up after the operation (n = 14), while 24% needed readmission (n = 47). The most common complications leading to readmission were wound dehiscence (n = 10, 42%) and wound purulence (n = 6, 25%). Only the site of the lesion (p-value = 0.035) was associated with postoperative complication. After controlling for potential confounders, the site of the lesion (adjusted odds ratio = 0.146, 95% confidence interval = 0.035-0.610, p-value = 0.008) and age at surgery (adjusted odds ratio = 1.048, 95% confidence interval = 1.002-1.096, p-value = 0.041) were significantly associated with mortality CONCLUSIONS: The age of the patients at the surgery and the site of the lesion are the two factors that were associated with mortality. However, further investigations into preoperative interventions and risk factors to mitigate the risk of complications and mortality are highly encouraged.

Asunto(s)

Hidrocefalia , Meningomielocele , Niño , Humanos , Recién Nacido , Meningomielocele/cirugía , Meningomielocele/complicaciones , Estudios Retrospectivos , Hidrocefalia/cirugía , Complicaciones Posoperatorias/epidemiología , Resultado del Tratamiento

RESUMEN

INTRODUCTION: Congenital malformations of the central nervous system (CNS) are morphological abnormalities of the brain and spinal cord that occur during fetal development. They constitute the second most common congenital disability, after congenital cardiac defects. Many risk factors have been identified; however, these studies included various types of congenital abnormality. Furthermore, there is a lack of information on risk factors for congenital CNS malformation, and notably in the Zinder region of Niger. OBJECTIVE: This study aimed to identify the risk factors associated with congenital CNS malformations in the Zinder region. METHODS: In a case-control design, patients with congenital CNS malformation were enrolled between June 2022 and April 2023 in the Department of Neurosurgery of the National Hospital of Zinder. RESULTS: Family history of malformation (aOR:3.31, 95% CI:1.25-8.78) and consanguine marriage (aOR:2.28, 95% CI:1.23-4.20) were significantly associated with congenital CNS malformation. In contrast, folic acid supplementation (aOR:0.34, 95% CI:0.13, 0.89), multiparity (aOR:0.34, 95% CI:0.13, 0.89), and grand multiparity (aOR, 0.47; 95% CI:0.23, 0.97) had a protective effect. CONCLUSION: Risk factors such as family malformation history and consanguine marriage increased the risk of developing congenital malformations of the central nervous system. In contrast, folic acid supplementation in the index period and multiparity had a significant protective effect.

Asunto(s)

Malformaciones del Sistema Nervioso , Humanos , Niger/epidemiología , Malformaciones del Sistema Nervioso/epidemiología , Factores de Riesgo , Ácido Fólico