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Frontiers in Neuroscience 2024Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the...
BACKGROUND
Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the world. Much efforts have been made to investigate the reasons that contribute to NTD and explore new ways to for prevention. We trawl the past decade (2013-2022) published records in order to get a worldwide view about NTDs research field.
METHODS
7,437 records about NTDs were retrieved from the Web of Science (WOS) database. Tools such as shell scripts, VOSviewer, SCImago Graphica, CiteSpace and PubTator were used for data analysis and visualization.
RESULTS
Over the past decade, the number of publications has maintained an upward trend, except for 2022. The United States is the country with the highest number of publications and also with the closest collaboration with other countries. Baylor College of Medicine has the closest collaboration with other institutions worldwide and also was the most prolific institution. In the field of NTDs, research focuses on molecular mechanisms such as genes and signaling pathways related to folate metabolism, neurogenic diseases caused by neural tube closure disorders such as myelomeningocele and spina bifida, and prevention and treatment such as folate supplementation and surgical procedures. Most NTDs related genes are related to development, cell projection parts, and molecular binding. These genes are mainly concentrated in cancer, Wnt, MAPK, PI3K-Akt and other signaling pathways. The distribution of NTDs related SNPs on chromosomes 1, 3, 5, 11, 14, and 17 are relatively concentrated, which may be associated with high-risk of NTDs.
CONCLUSION
Bibliometric analysis of the literature on NTDs field provided the current status, hotspots and future directions to some extant. Further bioinformatics analysis expanded our understanding of NTDs-related genes function and revealed some important SNP clusters and loci. This study provided some guidance for further studies. More extensive cooperation and further research are needed to overcome the ongoing challenge in pathogenesis, prevention and treatment of NTDs.
PubMed: 38650623
DOI: 10.3389/fnins.2024.1293400 -
Clinical Case Reports Apr 2024Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and...
Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and concurrent presentation of all those pathological states in a single individual can be considered one of the rarest forms of spinal dysraphism globally. Moreover for prompt management with optimal prognosis needs refined neurosurgical intervention guided by intraoperative neuromonitoring so as to bring about the best quality of life in the patient.
PubMed: 38645607
DOI: 10.1002/ccr3.8783 -
Journal of Craniovertebral Junction &... 2024Neurofibromatosis-1 (NF1) presents complex challenges due to its multisystemic effects, including kyphoscoliosis, dural ectasia, and arteriovenous fistulas (AVF). We...
Neurofibromatosis-1 (NF1) presents complex challenges due to its multisystemic effects, including kyphoscoliosis, dural ectasia, and arteriovenous fistulas (AVF). We present a case of a 31-year-old male with NF1 exhibiting severe cervical kyphoscoliosis, dural ectasia, a bisected cervical cord, and an arteriovenous fistula, highlighting the intricacies of managing such intricate cases. Rapid weakening in the patient's right arm and leg prompted imaging revealing severe cervical kyphotic deformity and a dural fold dividing the spinal cord. Surgical intervention addressed a high-flow arteriovenous fistula involving the right vertebral artery and an epidural vein, necessitating sacrifice of the artery. Posterior fusion and laminectomy were performed, resulting in stable neurological status postoperatively and significant improvement in sensory loss and weakness at three months. This case underscores the importance of a tailored posterior-only approach, involving dural fold release, to allow the spinal cord to relocate to a less tense position, thus demonstrating effective decompression in complex NF1 cases with concurrent kyphotic deformity and vertebral artery AVF.
PubMed: 38644911
DOI: 10.4103/jcvjs.jcvjs_138_23 -
Neurosurgical Review Apr 2024Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior...
BACKGROUND
Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior fossa-related conditions, such as Chiari malformation, trigeminal neuralgia, post-operative pediatric cerebellar mutism syndrome, and Crouzon syndrome. Herein, we present a summary of the current literature on segmentation of the posterior fossa. The review highlights the various segmentation techniques, and their respective strengths and weaknesses, employed along with objectives and outcomes of the various studies reported in the literature.
METHODS
A literature search was conducted in PubMed, Embase, Cochrane, and Web of Science up to November 2023 for articles on segmentation techniques of posterior fossa. The two senior authors searched through databases based on the keywords of the article separately and then enrolled joint articles that met the inclusion and exclusion criteria.
RESULTS
The initial search identified 2205 articles. After applying inclusion and exclusion criteria, 77 articles were selected for full-text review after screening of titles/abstracts. 52 articles were ultimately included in the review. Segmentation techniques included manual, semi-automated, and fully automated (atlas-based, convolutional neural networks). The most common pathology investigated was Chiari malformation.
CONCLUSIONS
Various forms of segmentation techniques have been used to assess posterior fossa volumes/pathologies and each has its advantages and disadvantages. We discuss these nuances and summarize the current state of literature in the context of posterior fossa-associated pathologies.
Topics: Humans; Arnold-Chiari Malformation; Cranial Fossa, Posterior; Magnetic Resonance Imaging
PubMed: 38637466
DOI: 10.1007/s10143-024-02366-4 -
Disability and Health Journal Jul 2024Thanks to improved medical care, individuals with spina bifida (SB) live well into adulthood and go through the process of reproductive maturation and the development of...
BACKGROUND
Thanks to improved medical care, individuals with spina bifida (SB) live well into adulthood and go through the process of reproductive maturation and the development of sexual desires. However, access to reproductive counselling and contraceptive use has been reported to be lower for women with physical and intellectual disabilities compared to the general population.
OBJECTIVE
We investigated oral contraceptive use in women with SB, residing in Sweden and how use varies based on the level of lesion and demographic factors.
METHODS
This was a population-based case-control study using annual data from national registers from 2006 to 2015. The sample consisted of 7045 women aged 15-49 years, of which 1173 had a diagnosis of SB. χ tests and logistic regression were used to investigate the study objective.
RESULTS
The rate of oral contraceptive use in women with SB was 24.6 % compared to 34.5 % among the general population. After adjusting for potential confounders women with SB were found to have a lower probability of using oral contraceptives (OR 0.63 95 % CI 0.56-0.71) compared to women without SB. Among women with SB, those with diagnoses Q05.8 (Sacral SB without hydrocephalus) and Q05.9 (SB unspecified) had a higher likelihood of using oral contraceptives compared to other Q05 diagnoses.
CONCLUSION
Women with SB had a lower likelihood of being on oral contraceptives compared to the control group. Further research should investigate if the lower use indicates that oral contraceptives are not an inappropriate method of contraception for women with SB.
Topics: Humans; Female; Sweden; Spinal Dysraphism; Adult; Adolescent; Case-Control Studies; Young Adult; Middle Aged; Contraceptives, Oral; Contraception Behavior; Disabled Persons; Logistic Models; Registries; Contraception
PubMed: 38637232
DOI: 10.1016/j.dhjo.2024.101627 -
Archives of Biochemistry and Biophysics May 2024Regulation of nucleotide biosynthesis is necessary for maintaining cellular processes including DNA replication and repair. A key enzyme in this process is...
Regulation of nucleotide biosynthesis is necessary for maintaining cellular processes including DNA replication and repair. A key enzyme in this process is deoxythymidylate kinase (dTYMK), which catalyzes the initial step in the production of dTTP from dTMP. This gene constitutes the first merged step of dTTP synthesis from the de novo and salvage pathways which regulate dTMP biosynthesis. Decreased de novo dTMP biosynthesis causes dysregulated dTTP:dUTP pools, and leads to increased uracil in DNA and neural tube closure defect (NTD) development in mice. The goal of this research was to investigate if dTYMK, the downstream enzyme in dTTP production, is an essential gene in mice and if impairments in dTYMK play a causal role in development including NTD pathology in mice. Dtymk C57BL/6J females were weaned onto either a control, excess folic acid, or folic acid deficient diet and timed breeding was performed after 8 weeks on diet. The offspring were analyzed for NTDs and other reproductive outcomes at embryonic day 12.5 (E12.5). Dtymk mice were confirmed to be embryonic lethal before E12.5, and Dtymk mice on all three experimental diets did not show the presence of open neural tube defects, spina bifida or exencephaly. However, the expression of dTYMK in Dtymk mouse embryos was confirmed to be decreased by approximately 3-fold compared to Dtymk embryos. Although dTYMK was demonstrated to be an essential gene in mice and is required for the regulation of nucleotide pools in vitro, there was no evidence of increased risk of NTDs because of a reduction in expression of this enzyme during embryonic development. It is possible that a further reduction in expression may be required to see developmental anomalies in C57BL/6J mice.
PubMed: 38621447
DOI: 10.1016/j.abb.2024.109991 -
Environmental Epidemiology... Apr 2024Direct potable reuse (DPR) involves adding purified wastewater that has not passed through an environmental buffer into a water distribution system. DPR may help address...
BACKGROUND
Direct potable reuse (DPR) involves adding purified wastewater that has not passed through an environmental buffer into a water distribution system. DPR may help address water shortages and is approved or is under consideration as a source of drinking water for several water-stressed population centers in the United States, however, there are no studies of health outcomes in populations who receive DPR drinking water. Our objective was to determine whether the introduction of DPR for certain public water systems in Texas was associated with changes in birth defect prevalence.
METHODS
We obtained data on maternal characteristics for all live births and birth defects cases regardless of pregnancy outcome in Texas from 2003 to 2017 from the Texas Birth Defects Registry and birth and fetal death records. The ridge augmented synthetic control method was used to model changes in birth defect prevalence (per 10,000 live births) following the adoption of DPR by four Texas counties in mid-2013, with county-level data on maternal age, percent women without a high school diploma, percent who identified as Hispanic/Latina or non-Hispanic/Latina Black, and rural-urban continuum code as covariates.
RESULTS
There were nonstatistically significant increases in prevalence of all birth defects collectively (average treatment effect in the treated = 53.6) and congenital heart disease (average treatment effect in the treated = 287.3) since June 2013. The estimated prevalence of neural tube defects was unchanged.
CONCLUSIONS
We estimated nonstatistically significant increases in birth defect prevalence following the implementation of DPR in four West Texas counties. Further research is warranted to inform water policy decisions.
PubMed: 38617421
DOI: 10.1097/EE9.0000000000000300 -
Journal of Indian Association of... 2024Management of neural tube defects (NTDs) is challenging and the outcome is demanding.
BACKGROUND
Management of neural tube defects (NTDs) is challenging and the outcome is demanding.
AIMS
To analyze the outcomes in operated cases of NTDs closed using various types of flaps.
MATERIALS AND METHODS
The data between June 2017 and May 2023 were analyzed. The mode of presentation, timing of intervention, type of flap, neurological status after closure, status of the wound, presence of hydrocephalous, flap blackening, flap necrosis, features of sepsis, and the outcome were recorded and analyzed. Covered NTD; closure done using primary closure or 'Z' Plasty (everywhere); incomplete data; lost to follow-up; and not giving consent were excluded from the study.
RESULTS
Out of 92 cases, 35 were operated using the rhomboid flap, 33 using dufourmentel modification of limberg flap, and 24 using keystone island flap. The mean age at presentation was 4 days (range: 0-28 days). The mean duration of surgery after presentation was 2 days (range: 1-3 days). Mean operating time was 1.15 h (range: 0.45-3.15 h). A ventriculoperitoneal shunt was required in 62 cases at various stages. The preoperative and the postoperative power were nearly the same in all. Wound infection was seen in 2, 3, and 1 cases in each group. Blackening of the flap was seen in 3, 2, and 1 cases in three groups. Cerebrospinal fluid (CSF) leak was seen in 2, 2, and 0 cases. Wound dehiscence was present in one case in each group and sepsis was present in 2, 3, and 2, respectively.
CONCLUSION
The management of open NTD requires adequate planning. CSF shunting and flap closure are often required.
PubMed: 38616832
DOI: 10.4103/jiaps.jiaps_189_23 -
Cureus Mar 2024Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is...
Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient's maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.
PubMed: 38601418
DOI: 10.7759/cureus.55917