Neural Tube Defects Research Articles

The global, regional, and national patterns of change in the burden of congenital birth defects, 1990–2021: an analysis of the global burden of disease study 2021 and forecast to 2040

Congenital birth defects (CBDs) present enormous challenges to global healthcare systems. These conditions severely impact patients' health and underscore issues related to socioeconomic development and healthcare accessibility and efficiency. Previous studies have been geographically limited and lacked comprehensive global analysis. This study provides global, regional, and national disability-adjusted life years (DALYs) data for four major congenital birth defects-congenital heart defects (CHD), neural tube defects (NTDs), digestive congenital anomalies (DCAs), and Down syndrome (DS) from 1990 to 2021, emphasizing health inequalities. The goal is to offer scientific evidence for optimizing resource allocation, focusing on high-burden populations, and reducing disease burden. This study systematically evaluated the global, regional, and national burden of CBDs and their changes from 1990 to 2021 using the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021. To conduct a more focused analysis, four specific CBDs were selected: CHD, NTDs, DCAs, and DS. DALYs were used as the metric, combined with the sociodemographic index (SDI). Analyses included the slope index of inequality and concentration index to measure health inequalities, frontier analysis to estimate achievable outcomes based on development levels, decomposition analysis to identify drivers of disease burden changes, Joinpoint regression analysis to assess temporal trends, and the Bayesian age-period-cohort (BAPC) model to predict future disease burden trends. Compared to 1990, the global burden of the CBDs in 2021 showed a downward trend. Males had a higher burden than females, with the highest burden observed in low-SDI regions. When examining CHD, NTDs, DCAs, and DS specifically, trends in burden changes varied across different CBDs at the global, regional, and national levels. Frontier analysis revealed potential for burden improvement in various countries and territories. Decomposition analysis highlighted differences in disease burden drivers across SDI regions, showing the greatest improvement observed in low-SDI regions. Joinpoint regression analysis indicated a downward trend in DALYs burden across SDI regions, and BAPC model predictions suggested that the burden of CBDs will continue to decline in the future. CBDs pose a major challenge to global public health. Despite an overall decline in disease burden, health inequalities remain prominent, particularly in countries and territories with lower levels of development. Future public health interventions should focus on countries and territories with low levels of development by optimizing healthcare resource allocation, improving basic health infrastructure, enhancing health education, and reducing disease burden inequalities. Global collaboration and data sharing are essential to promote a lifecycle management model for CBDs research and treatment, advancing global health development. This study was supported by the National Natural Science Foundation of China (No. 82270310) and the Jiangsu Provincial Key Research and Development Program (No. BE2023662).

Improvement of serum folate status in the US women of reproductive age with fortified iodised salt with folic acid (FISFA study).

Mandatory folic acid fortification of enriched grains has reduced neural tube defect prevalence in several countries. We examined salt as an additional vehicle for folic acid fortification. The primary objective was to examine the change in serum folate concentration after 1 month of consumption of fortified iodised salt with folic acid (FISFA) among women of reproductive age. The secondary objectives were to examine (1) the feasibility of implementing FISFA intervention and (2) the acceptability of FISFA. We conducted a pre–post intervention study (January–April 2023). Participants received a FISFA saltshaker with the study salt (1 g of sodium chloride salt fortified with 100 mcg of folic acid) to use instead of regular table salt for 1 month. Serum folate was measured using the Elecsys Folate-III immunoassay method at baseline and 1-month endpoint. Change in serum folate was assessed using a two-tailed Wilcoxon signed rank test for paired samples. Metropolitan city, Southern USA. Non-pregnant, 18–40-year-old women who lived alone/with a partner. Thirty-two eligible women consented to participate, including eleven non-Hispanic-White, eleven non-Hispanic-Black and ten Hispanic. Post-intervention, there was a significant increase in median serum folate concentration of 1·40 nmol/l (IQR 0·74–2·05; P < 0·001) from 24·08 nmol/l to 25·96 nmol/l in an analytical sample of n 29. An increase was seen in 28/29 (93 %) participants. Feasibility: 100 % study consent and compliance. FISFA acceptability: 25 d average use; 1·28 g average daily intake; 96·7 % and 90 % reported taste and colour of FISFA as highly acceptable, respectively. FISFA is an effective approach to increasing serum folate concentrations among women of reproductive age. Findings should be replicated in a larger study.

Clinical Profile and Surgical Management of Intramedullary Spinal Cord Tumors

Background and Aim: Intramedullary spinal cord tumors (IMSCTs) are rare tumors of the spine. The study aims to analyze the clinical profile and surgical management of IMSCTs. Methods and Materials/Patients: This is a retrospective study to review the IMSCTs operated between January 2007 to December 2021. Myxopapillary ependymomas were excluded from the study. Results: There were twenty-seven operated cases of IMSCTs. The Mean±SD age was 39±22 years. Fifteen (55.5%) were males and 12(44.5%) were female patients. There were 6(22%) cervical, 7(26%) cervicodorsal, 9 (33%) dorsal, and 5(19%) dorsolumbar IMSCTs. The Mean±SD duration of symptoms was 10±14 months. Ten (37%) patients had spinal cord syrinx. Motor weakness and pain were the most common symptoms. Intraoperative gross total resection (GTR) was achieved in 12(44.4%) patients, near-total resection in 4(14.8%) patients, subtotal resection in 2(7.4%) patients, decompression in 7(26%) patients, and biopsy in 2(7.4%) patients. Eighteen (66.6%) patients had neurological status same as preoperative status. Four (14.8%) patients had improvement and 5(18.5%) patients had deterioration in neurological status. Ependymoma was the most common histological type of IMSCT (40.5%). Other lesions are glioma, hemangioblastoma, lipoma, schwannoma, lymphoma, capillary hemangioma, arachnoid cyst, and epidermoid cyst with spinal dysraphism. Ependymomas had well-defined margins compared to other gliomas. Duration of stay in the hospital was 9±3.5 days. Conclusion: Dorsal spine is the most common location of IMSCTs and ependymoma is the most common histological type. It is the surgeon’s intraoperative decision regarding the extent of resection of the tumor based on the spinal cord infiltration and tumor type. GTR is possible in the majority of ependymomas and some other histological tumors like schwannoma, arachnoid cyst, and epidermoid cyst.

Anesthetic management of laparoscopically assisted fetoscopic surgery to correct spina bifida

Introduction. The growing incidence of intrauterine pathology in the fetus at the present stage dictates the need to develop and improve intrauterine surgical correction of defects in the fetus. Myelomeningocele (SPINA BIFIDA) is the most common and severe neural tube defect in the fetus, the severity of the neurological deficit is determined by the level of location and extent of the anomaly. By uniting doctors of various specialties (obstetricians-gynecologists, neonatologists, surgeons, anesthesiologists-resuscitators), the Clinic of the St. Petersburg State Pediatric Medical University effectively introduces methods of prenatal surgery.The objective was to demonstrate by clinical example the experience of successful fetoscopic correction of myeloneningocele to reduce maternal risks and injuries, to reduce risks aimed at protecting the tissues of the spinal cord of the fetus, as well as to reduce the need for postpartum correction of the defect in the fetus, to improve prognosis and risks of subsequent disability.Materials and methods. The article presents the first successful experience of minimally invasive laparoscopic correction of myelomeningocele in the fetus with the participation of the multidisciplinary team and the features of anesthesiological support of the method.Conclusion. Laparoscopic access, together with the optimal choice of anesthetic management in fetal surgery, allows not only to successfully correct the defect in myelomeningocele in the fetus, but also to significantly minimize and reduce the risks of injury to the mother, and also reduces the need for postpartum surgical treatment and reduce disability. Accumulation and improvement of experience, a multidisciplinary approach is the key to successful correction of intrauterine fetal pathology.

Desmoid fibromatosis following surgery of an intradural spinal lipoma in a young cat

BackgroundIntradural lipomas have been previously reported in individuals with spinal dysraphism; however, they have not been reported in cats with an intact spinal canal. Desmoid tumors are a rare finding in veterinary medicine, and there is no prior description of these tumors invading the spinal cord. Furthermore, the etiopathogenesis remains debated, with trauma, such as surgical intervention of an intradural structure, potentially contributing to its development.Case descriptionA 10-month-old domestic shorthair cat was presented initially with progressive proprioceptive ataxia. The MRI identified an intradural compressive lesion at the cranio-cervical junction, confirmed as a lipoma by histopathology. Despite surgical removal, postoperative complications led to the cat's euthanasia. Postmortem examination revealed invasion of a desmoid tumor at the surgical site.ConclusionsThis case highlights the rarity of intradural lipomas in this location and the unusual complication of desmoid tumor invasion. It underscores the need for further research into the underlying mechanisms and potential diagnostic and therapeutic strategies for similar cases and suggests that these findings may be added to the list of potential post-surgical complications.

Maternal factors for neural tube defects in offspring: An umbrella review.

We conducted an umbrella review focusing on maternal risk factors during pregnancy associated with neural tube defects (NTDs). Our search was in databases PubMed, Scopus, and Web of Science. We specifically targeted meta-analyses examining maternal factors during pregnancy in relation to NTDs. The comparison involved assessing metrics such as odds ratio (OR) or related risk ratios reported in the included studies, as well as parameters like heterogeneity (I²), 95% prediction interval, small-study effects, excess significance biases, and sensitivity analysis. Three risk factors for fetal NTDs, namely hyperthermia with an OR of 1.92, obesity with an OR of 1.68, and passive smoking with an OR of 1.90, were classified as highly suggestive evidence (Class II). Influenza, with an OR of 3.33, was considered a risk factor with suggestive evidence (Class III). Multivitamin supplementation during pregnancy, with an OR of 0.76, and low maternal vitamin B12, with an OR of 2.41, were categorized as weak evidence (Class IV). We identified four risk factors including hyperthermia, influenza, obesity, and passive smoking as suggestive or highly suggestive evidence for NTDs. Low maternal vitamin B12 was identified as a risk factor for NTDs, supported by weak evidence.

Particularities of spasticity in myelomeningocele patients.

Myelomeningocele (MMC), a congenital neural tube defect, is the most common developmental anomaly of the central nervous system (CNS). Spasticity is among the main disabling factors in these patients, affecting up to 1/5 of children. The purpose of this article is to review the current knowledge regarding spasticity in MMC patients, mainly focusing on its manifestations and management. A literature search was conducted using the PubMed database for the terms "myelomeningocele" and "spasticity." Data were collected by 5 independent investigators and then synthesized in a scoping format. Causes of spasticity in these patients include hydrocephalus, tethered cord syndrome (TCS), syringomyelia, CNS infection, and associated congenital brain and spine anomalies. Clinical manifestations include limb spasticity and neurogenic bladder. Spasticity primarily affects muscles below the neurological level and contributes to gait impairment. Besides walking ability, spasticity also severely affects functional mobility in general, self-care, and quality of life. The majority of MMC patients experience neurogenic bladder. Treatment of spasticity can be symptomatic or target its cause. Medical and surgical options are available for both limb and bladder spasticity. Regular physiotherapy and orthotics are used to prevent contractures and the early introduction of orthoses is the cornerstone of a gait training program. Neurosurgical treatment options for spasticity include nonablative and ablative procedures such as selective dorsal rhizototmy. The urodynamic pattern guides treatment strategies, with intermittent catheterization being the best treatment option for patients with underactive detrusor and overactive sphincter muscles. Given the particularities of spasticity in MMC patients, a multidisciplinary team approach and early rehabilitation programs are keys for their optimal management.

Vitamin E supplementation prevents obesogenic diet-induced developmental abnormalities in SR-B1 deficient embryos.

Genetic and environmental factors influence the risk of neural tube defects (NTD), congenital malformations characterized by abnormal brain and spine formation. Mouse embryos deficient in Scavenger Receptor Class B Type 1 (SR-B1), which is involved in the bidirectional transfer of lipids between lipoproteins and cells, exhibit a high prevalence of exencephaly, preventable by maternal vitamin E supplementation. SR-B1 knock-out (KO) embryos are severely deficient in vitamin E and show elevated reactive oxygen species levels during neurulation. We fed SR-B1 heterozygous female mice a high-fat/high-sugar (HFHS) diet and evaluated the vitamin E and oxidative status in dams and embryos from heterozygous intercrosses. We also determined the incidence of NTD. HFHS-fed SR-B1 HET females exhibited altered glucose metabolism and excess circulating lipids, along with a higher incidence of embryos with developmental delay and NTD. Vitamin E supplementation partially mitigated HFHS-induced maternal metabolic abnormalities and completely prevented embryonic malformations, likely through indirect mechanisms involving the reduction of oxidative stress and improved lipid handling by the parietal yolk sac.

Ethionine-induced S-adenosylmethionine deficiency suppressed H3K27me3 and cell differentiation during neural tube development in mice.

S-adenosylmethionine (SAM) as a major methyl donor plays a key role in methylation modification in vivo, and its disorder was closely related to neural tube defects (NTDs). However, the exact mechanism between SAM deficiency and NTDs remained unclearly. Hence, we investigated the association between histone methylation modification and cell differentiation in NTDs mice induced by SAM deficiency. The levels of SAM and SAH (S-adenosylhomocysteine) were determined by enzyme linked immunosorbent assay (ELISA). The level of histone methylation, β-catenin were analyzed by Western blot, reversing transcription and quantitative PCR (RT-qPCR) and immunofluorescence. The results showed that the incidence rate of NTDs induced by ethionine were 46.2%. Post treatment of ethionine combined with SAM, the incidence rate of NTDs was reduced to 26.2%. The level of SAM was significantly decreased (p < 0.05) and a reduction in the SAM/SAH ratio was observed after entionine treatment. The SAM deficiency caused the reduction of H3K27me3 modifications and the elevated UTX activity (p < 0.05), and inhibited the expressions of β-catenin. The differentiations of NSCs into neurons and oligodendrocytes were inhibited under SAM deficiency (p < 0.05). These results indicated that the SAM deficiency led to reduce H3K27me3 modifications, prevented the β-catenin signaling pathway and NSCs differentiation, which provided an understanding of the novel function of epigenetic regulation in NTDs.

Folate fortification for spina bifida: preventing neural tube defects.

Neural tube defects (NTDs), such as spina bifida and anencephaly, are severe congenital anomalies affecting the development of the brain and spine. These conditions are often linked to folic acid deficiency during early pregnancy, a modifiable risk factor. While high-income countries have implemented mandatory folic acid fortification in staple foods, resulting in significant reductions in NTD prevalence, low- and middle-income countries (LMICs) continue to experience disproportionately high rates of these birth defects. Folic acid supplementation and fortification are proven interventions for preventing NTDs, but many LMICs face political, financial, and logistical barriers to implementing these programs. This paper highlights the importance of mandatory folic acid fortification as a cost-effective public health intervention and advocates for its expansion in LMICs. It reviews the successes of fortification programs in high-income countries, explores alternative food vehicles like rice for regions with different dietary staples, and discusses the potential of multi-nutrient fortification strategies. Additionally, this paper emphasizes the need for global collaboration, enhanced monitoring and evaluation, and public health education campaigns to ensure that women of reproductive age, especially in LMICs, receive adequate folic acid. By addressing these challenges, the global health community can significantly reduce the incidence of NTDs, improve maternal and child health, and promote health equity worldwide. The time to act is now, as the benefits of folic acid fortification far outweigh the costs of inaction.

Burden of neural tube defects in India: a systematic review and meta-analysis.

One of the most common and serious congenital defects is neural tube defect (NTD) in India. The data about the NTDs in India is lacking. The objective of this meta-analysis is to provide an estimate of NTDs in India with regional variations. This study was conducted by doing a literature search using PubMed (Medline) and Embase databases for studies published from their inception to 1 October 2023 by using relevant keywords. We have prepared our study protocol by following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist, and our study is registered in PROSPERO. Pooled prevalence was calculated by using the Der Simonian-Liard method and random effect model to find out the burden of NTD in India. Additionally, subgroup and sensitivity analyses were also performed. NHLBI (National Heart, Lung, and Blood Institute) tool was used for assessing the study quality. A total of 1129 articles were identified by using the predefined keywords in which 27 articles were selected which were fitting the selection criteria defined in our study. The prevalence of NTDs in our meta-analysis was found to be 9.46 per 1000 births with a 95% confidence interval of 8.01 to 10.91 per 1000 births with significant heterogeneity with I2 of 99.15%. Our study highlights the increasing trend of NTDs over the past decades, with significant regional variation in India. There is an urgent need for comprehensive prevention strategies such as advocacy and awareness, antenatal screening for NTDs, folic acid supplementation, and food fortification. Future research is required for identification and implementation for a target-based approach for region specific.

Fumonisins in infant cereals marketed as complementary food in Argentina

ABSTRACT Infant cereals are typically the first foods introduced as complementary foods. Cereals used to elaborate complementary foods, such as wheat, maize and rice, are susceptible to mycotoxin contamination. Among mycotoxins, fumonisins have been epidemiologically associated, in humans, with oesophageal cancer, neural tube defects and stunting. Fumonisins have been found in maize and wheat grains in Argentina. In the present study, a survey was conducted to determine their occurrence in 82 wheat-based and multicereal-based infant cereal items collected from retail stores in Rio Cuarto, Argentina, using HPLC-MS. Of these samples, 84% showed FBs contamination with levels ranging from 0.05 to 992 μg/kg). Although FB1 was the most prevalent fumonisin, FB2 was found at higher levels. Most samples had levels below the limit of 200 μg/kg set for Argentinean cereal products for children. The outcome of this survey provides information on the naturally presence of fumonisin in infant cereal intended for children in Argentina, which can be helpful to consider relevant monitoring programmes.

A-321 Rethinking the Role of Race in Prenatal AFP Screening for Open Neural Tube Defects

Abstract Background The quantification of alpha-fetoprotein (AFP) in maternal serum is commonly used in prenatal screening to estimate the risk of fetal open neural tube defects (ONTDs). This involves comparing a patient’s measured AFP concentration to the median AFP for women of similar gestational age and weight, reported in AFP multiples of the median (MoM). Current guidelines recommend establishing population medians separately grouped by patients’ race, based on historical reports documenting differences in median AFP concentrations across different populations. We aimed to reevaluate this practice of race based ONTD risk stratification given the limited and questionable historical evidence as well as the small observed differences in AFP concentrations in our practice and in a recent report. Methods We collected maternal serum AFP screening data for patients between 12/30/19 and 2/9/24. Informed by the statistical methods used for clinical risk stratification, we developed two log-linear multiple variable regression models for estimating AFP: gestational age (GA), weight, and interaction terms (Model 1) and Model 1 predictors, race, and interaction terms (Model 2). AFP MoMs were calculated by dividing the measured AFP concentration by the model-estimated AFP. Results We analyzed maternal ONTD screening for 7,702 patients with singleton pregnancies. The current clinical process uses race and ethnicity as documented in the electronic health record, which was categorized as Black (N = 2,360), White (N = 3,734), Hispanic (N = 209), Asian (N = 641), and Other (N = 758). The addition of race in Model 2 included statistically significant predictors (p &amp;lt; 0.001) for Black (β = 0.2), Asian (β = 0.05), and Black:weight interaction (β = -5.9 x 10-4). Between Model 1 and Model 2, the mean change in AFP MoMs was -0.05, +0.03, 0.0, -0.02, and +0.01 for Black, White, Hispanic, Asian, and Other patients, respectively. 95% of Black patients had a change &amp;lt; 0.12 in AFP MoM and &amp;gt; 99% of all other patients had a change &amp;lt; 0.1. Using the clinical interpretative threshold, 56 (0.7%) results were considered elevated in both models, 4 (0.05%) elevated in Model 1 only (3 Black, 1 Other), and 4 (0.05%) elevated in Model 2 only (3 White, 1 Hispanic). Chart review of the 8 discordant interpretations showed small changes in MoMs (mean absolute difference = 0.09) and no cases of ONTDs. Conclusions In our health system’s population, maternal race appears to have a small statistically significant association with maternal AFP concentration, even after adjustment for weight and maternal GA. However, preliminary analyses indicate that this difference has a small impact on the clinical interpretation of these studies, with most patients classified similarly when race is not accounted for in the calculation. Further investigation is needed to clarify whether this small impact on estimation of risk warrants the continued inclusion of race in NTD screening, as well as whether other clinical, social, or community factors available for inclusion in this clinical risk stratification model would be better predictors than the poorly defined and discriminatory concept of race.

Clean intermittent catheterisation determinants and caregiver adherence in paediatric patients with spinal dysraphism and spinal cord injury in a paediatric spinal differences clinic: a mixed methods study protocol

IntroductionClean intermittent catheterisation (CIC) is the standard of care for treating neurogenic lower urinary tract dysfunction (NLUTD), the most common bladder dysfunction in children diagnosed with spinal dysraphism (SD) and...

Defining pediatric neurosurgery in low-income countries: a cross-sectional study in Ethiopia.

Pediatric neurosurgical practice is prevalent in most low- and lower-middle-income countries but lacks comprehensive documentation of practice patterns, demographics, and case variety. This study aimed to present the current state of pediatric neurosurgery in Ethiopia, including workforce characterization, case variety, and relevant procedures. A survey was developed and distributed to all Ethiopian fully trained neurosurgeons (n = 50). Survey questions assessed sociodemographic variables, level of training, case variety, and neurosurgical practice. Statistical analysis was conducted to describe the current practice of pediatric neurosurgery. A total of 45 neurosurgeons responded (90%). Three respondents (7%) were women. There was only 1 fellowship-trained pediatric neurosurgeon, while most neurosurgeons were general neurosurgeons who served a pediatric patient population. Most neurosurgeons (56%) worked in the capital city, Addis Ababa, while another 13% worked in other urban settings. The top three indications for a pediatric neurosurgical procedure were neural tube defects (NTDs) (96%), hydrocephalus (93%), and trauma (60%). NTD-associated hydrocephalus was the most common hydrocephalus type seen (71%). The most common procedure for hydrocephalus was shunt insertion (96%). A prenatal diagnosis of NTD was made in < 10% of cases, as reported by 84% of respondents. The study highlights Ethiopia's need for more pediatric neurosurgeons. Suggested strategies to facilitate subspecialty training include the establishment of a fellowship program facilitated by the implementation of a nationwide pediatric neurosurgery registry. Promoting efforts for early diagnosis and treatment of pediatric conditions coupled with NTD prevention initiatives could improve pediatric neurosurgical care in Ethiopia.

Management of cloacal exstrophy: Experience from tertiary hospital, Tanzania. Case series

Introduction and importanceCloacal exstrophy (CE) is defined as a complex anomaly that affects the urogenital and intestinal tracts. It is the most serious form of anomaly that is described within the so-called exstrophy-epispadias complex. These malformations usually present a challenge in the management of particular conditions, as most of these forms require multiple surgeries, resulting in the use of multidisciplinary approaches, including reconstructive urologists, pediatric surgeons, orthopedic surgeons, endocrinologists, pediatricians, psychologists and nutritionists. Additionally, these patients present with ambiguous genitalia, which is another aspect that needs to be taken into consideration during the management of this condition. Case presentationThe first patient, a baby who was 8 days of life and referred from a peripheral hospital, presented with classic features of cloaca exstrophy. He underwent first-stage cloacal exstrophy repair. The intraoperative findings included a bi-halved bladder and phallus, and the ureters were not appreciated, but there was continuous urine leakage from the bi-halved bladder and no uterus or ovaries. Poorly formed cecum, cecal-cutaneous fistula with an everted part of the terminal ileum protruding outside (mucosa-out), no transverse, no descending colon, collapsing small bowel, left undescended testis in the inguinal region, and right abdominal undescended testis. He first underwent surgery, which involved ileostomy, omphalocele closure and proper bladder exstrophy construction.The second patient, a 6-day-old female, had a similar presentation and physical findings as the first patient did, except that she had elephantoid trunk deformity with a cecal fistula, bifid clitoris, two cervical orifices, and two uteri completely separated with ovaries. Mobilization of the hindgut, closure of the cecal fistula, and proper bladder exstrophy after repair of the posterior wall were performed.The third patient was a 10-day-old female, similar to the second patient, but this patient presented with a left leg deformity with wide diastasis. In this case, the urinary bladder was not bivalved, and the cecal fistula had perforated just below the posterior wall of the urinary bladder. A mild omphalocele, bifid clitoris and vagina, one cervical orifice, and two uteri completely separated, with ovaries observed. Mobilization of the hindgut, closure of the cecal fistula, and proper bladder exstrophy after repair of the posterior wall were performed. The postoperative period was uneventful. Clinical discussionSurgical management of cloacal exstrophy is typically undertaken in the newborn period (48–72 h) as a combined effort between pediatric surgery and urology. In the setting of associated spinal dysraphism, neurosurgical consultation and closure should be undertaken as soon as the infant becomes medically stable. Early operation minimizes bacterial colonization of exposed viscera and may decrease the need for pelvic osteotomy. The goals of treatment include securing the abdominal wall and bladder closure, preserving renal function, preventing short bowel syndrome, creating functional and cosmetically acceptable genitalia, and attaining acceptable urinary and fecal continence. ConclusionCloacal exstrophy remains a rare and complex congenital anomaly characterized by an array of anatomical defects affecting multiple organ systems. With respect to the approach of this congenital malformation, it is therefore important that these individuals and their families remain under the care of a multidisciplinary team of providers who can offer medical care, counseling and life-long follow-up.

Meningocele manqué. Case report of a rare disorder

A case of meningocele manqué with its management is presented and the literature of this rarely reported condition is reviewed. A one-year-old child was admitted with a small sac like lesion in the upper dorsal region with a soft swelling in the dorso lumbar region, was also associated with congenital bilateral talipes equinovarus which was being treated by a paediatric orthopedic surgeon. Methods. Craniospinal MRI was suggestive of dorso lumbar lipomyelomeningocele, and corresponding to the dorsal sinus/sac at DV3/DV4 level there was another tethering seen on the MRI due to a band and associated with syrinx of the dorsal cord below that, s/o meningocele manqué. Treatment. This patient underwent in 1st stage, DV2 to DV5 laminoplasty, excision of the sinus, durotomy, dissection of the multiple arachnoid cysts, and cutting of the dorsal band. In second stage will undergo surgery for Lipomyelomeningocele Conclusion: Meningocele Manque is rare, it can present in isolation or associated with other spinal dysraphism. With other spinal dysraphism they can be either at the same or at another location, as was seen in our case. Before operating all cases of spinal dysraphism it is of paramount importance to MRI screen the entire neuraxis and study images thoroughly. In our case along with the dorso lumbar lipomyelomeningocele, there was a Meningocele manqué at DV3/DV4 level. It is essential that the meningocele manqué be addressed first; if not the returning/recoiling cord after de-tethering at the lower level can get tugged/sheared at the tethered meningocele manqué causing deficits.

A Single-Centre Analysis of Surgical Techniques for Myelomeningocele Closure: Methods, Outcomes, and Complications.

(1) Background: Neural tube defects are a prevalent cause of congenital malformations, myelomeningocele (MMC) being the most severe form. This study evaluates the clinical outcome and postoperative-associated complications following MMC surgical closures, focusing on the following three techniques: direct suture (DS); VY advancement flap (VYF); and Limberg flap (LF). (2) Methods: A retrospective observational study was conducted from March 2015 to February 2023, and the inclusion criteria were newborns who underwent lumbosacral MMC within 24 h of birth. (3) Results: Out of 20 cases, 45% underwent DS closure; 25% underwent VY-F closure; 15% underwent LF closure, and 15% (n = 3) underwent combined flap closure. A significant statistical correlation was observed between intracranial hypertension (IH), the need for external ventricular drainage (EVD), and DS closure type. In the DS group, 60% of patients required EVD (p = 0.041), and 90% had IH (p = 0.027). CSF fistula was present in 40% of LF cases and 30% of DS cases, while wound dehiscence was observed in 60% of LF cases and 30% of DS cases. (4) Conclusions: Our study demonstrated that DS was linked to higher rates of complications. The VY-F is the safest method for closing MMC defects.

Diabetes and Early Development: Epigenetics, Biological Stress, and Aging.

Pregestational diabetes, either type 1 or type 2 diabetes, induces structural birth defects including neural tube defects and congenital heart defects in human fetuses. Rodent models of type 1 and type 2 diabetic embryopathy have been established and faithfully mimic human conditions. Hyperglycemia of maternal diabetes triggers oxidative stress in the developing neuroepithelium and the embryonic heart leading to the activation of proapoptotic kinases and excessive cell death. Oxidative stress also activates the unfolded protein response and endoplasmic reticulum stress. Hyperglycemia alters epigenetic landscapes by suppressing histone deacetylation, perturbing microRNA (miRNA) expression, and increasing DNA methylation. At cellular levels, besides the induction of cell apoptosis, hyperglycemia suppresses cell proliferation and induces premature senescence. Stress signaling elicited by maternal diabetes disrupts cellular organelle homeostasis leading to mitochondrial dysfunction, mitochondrial dynamic alteration, and autophagy impairment. Blocking oxidative stress, kinase activation, and cellular senescence ameliorates diabetic embryopathy. Deleting the mir200c gene or restoring mir322 expression abolishes maternal diabetes hyperglycemia-induced senescence and cellular stress, respectively. Both the autophagy activator trehalose and the senomorphic rapamycin can alleviate diabetic embryopathy. Thus, targeting cellular stress, miRNAs, senescence, or restoring autophagy or mitochondrial fusion is a promising approach to prevent poorly controlled maternal diabetes-induced structural birth defects. In this review, we summarize the causal events in diabetic embryopathy and propose preventions for this pathological condition. KEY POINTS: · Maternal diabetes induces structural birth defects.. · Kinase signaling and cellular organelle stress are critically involved in neural tube defects.. · Maternal diabetes increases DNA methylation and suppresses developmental gene expression.. · Cellular apoptosis and senescence are induced by maternal diabetes in the neuroepithelium.. · microRNAs disrupt mitochondrial fusion leading to congenital heart diseases in diabetic pregnancy..

From Awareness to Action: Addressing Folic Acid Supplementation in Western India Among Women of Reproductive Age.

Background Folate, a vitamin B9, can be sourced naturally in the diet or the form of supplements. Studies highlight the prevention of neural tube abnormalities in women of reproductive age. To prevent these, low daily doses of FA (400-800 μg) are recommended for all women planning pregnancy, with higher doses for those with previous NTD-affected pregnancies. Folic acid supplementation lowers the risk of NTDs, other birth defects, and obstetrical complications. Methods The study explored awareness of and knowledge of folic acid supplements among women of childbearing age in Pune City, western Maharashtra, India. The cross-sectional survey was carried out at Symbiosis University Hospital and Research Centre (SUHRC), involving 300 female participants aged 16-44 years. The study utilized a structured questionnaire to evaluate participants' knowledge of folic acid supplements, their benefits, and usage patterns. Results Use as well as awareness of folic acid supplements was strongly associated with educational attainment. The awareness was low or none in participants who never attended school, and highest among the university graduates. The study included 300 women aged 16-45. About 43% of the study participants were between the ages of 23 and 29 years old; 57.7% were single, and 59.3% among them were university graduates. 59.7% of the study participants knew about folic acid supplements, but only 20% took them regularly. Knowledge about ideal timing and benefits was limited among them. 38% correctly identified prepregnancy as the ideal time to start. Only 18% knew it prevents neural tube defects, and 27% knew it could be obtained naturally. Conclusion The study highlights a lack of detailed knowledge about folic acid supplements among the study participants. Recommendations to enhance the supplement's intake include public health campaigns, enhanced healthcare provider education, easy-to-read informational materials, and strengthening government supplement programs to improve awareness and food fortification. Further research on consumption barriers for the supplement needs to be carried out.