Central Nervous System Congenital Malformations, Especially Neural Tube Defects in 29 Provinces, Metropolitan Cities and Autonomous Regions of China:

1990 ◽  
Vol 19 (4) ◽  
pp. 978-982 ◽  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Metropolitan Cities ◽  
Autonomous Regions

Paediatric neuroscience care

2020 ◽  
pp. 467-492
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Disorders ◽  
Adult Services ◽  
Central Nervous System Tumours ◽  
Basic Understanding ◽  
Craniofacial Syndromes

Paediatric neurology services care for children aged 0–16 years. Many of these children suffer genetic and complex neurological problems and frequently require life-long support. Hydrocephalus and central nervous system tumours are commonly presenting disorders; however, craniofacial syndromes, spinal disorders, spinal neural tube defects, epilepsy, and trauma including non-accidental injuries are frequently managed. Paediatric nurses specialize in the care of these children and support of their families but as they grow up and transition into adult services, it is the responsibility of general nurses to have a basic understanding of some of their conditions so they can maintain and continue their care.

scholarly journals Histone methylations in the developing central nervous system and in neural tube defects

Neuroforum ◽  
2018 ◽  
Vol 24 (2) ◽  
pp. A85-A94
Author(s):  
Alejandro Villarreal ◽  
Henriette Franz ◽  
Tanja Vogel
Keyword(s):  
Gene Expression ◽  
Central Nervous System ◽  
Nervous System ◽  
Cell Differentiation ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
System Development ◽  
Epigenetic Modification ◽  
Nervous System Development ◽  
Central Nervous System Development

Abstract Understanding central nervous system genesis is of crucial relevance to decode different human diseases such as microcephaly or neural tube defects, which arise from incorrect developmental processes. Epigenetic mechanisms regulate gene expression in a spatio-temporal manner and are implicated in diverse cellular actions one of which is cell differentiation. Therefore, the study of these mechanisms is of great relevance in the context of development and disease. In this article, we will review histone methylations as epigenetic modification and how they impact on gene expression and cell differentiation in central nervous system development and neural differentiation. Further, we will discuss an emerging link between histone methylation in the etiology of neural tube defects. We will specifically highlight the role of the disruptor of telomeric silencing like 1 (DOT1L) and histone H3 lysine 79 methylation (H3K79me), which is an unusual histone modification with implication for proper central nervous system development.

scholarly journals Evaluation of Fetal Central Nervous System Anomalies; Perinatology Council Data of a Reference Center

2020 ◽  
Author(s):  
Meltem Koyuncu Arslan ◽  
Melek Akar ◽  
Halil Gürsoy Pala ◽  
Cüneyt Eftal Taner ◽  
Mehmet Yekta Öncel
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
High Risk ◽  
Pregnant Women ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Week ◽  
The Mean ◽  
Cns Anomalies

INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.

scholarly journals Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis

2019 ◽  
Vol 22 (6) ◽  
pp. 546-557
Author(s):  
Camilla Struksnæs ◽  
Harm-Gerd Karl Blaas ◽  
Christina Vogt
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Heart Defects ◽  
World Health ◽  
Chromosomal Anomalies ◽  
Fetal Autopsy ◽  
Autopsy Findings ◽  
Cns Anomalies

ObjectivesCentral nervous system (CNS) anomalies are the second most frequent category of congenital anomalies after congenital heart defects (CHDs). In this study, the aim was to investigate the distribution of different CNS anomalies with associated anomalies and karyotype in a fetal autopsy population of terminated pregnancies over a 30-year period and to correlate the ultrasonographic diagnoses of CNS anomalies with autopsy findings.Materials and MethodsThis study includes 420 intact fetuses with CNS anomalies terminated at gestational ages 11+ 0to 33+ 6over a 30-year period from 1985 to 2014. An ultrasound (US) examination was performed at the National Centre for Fetal Medicine, St. Olavs Hospital, Trondheim. The autopsies were performed at the Department of Pathology at the same hospital or a collaborating hospital. The anomalies were subcategorized according to the classification by the World Health Organization.ResultsNeural tube defects such as anencephaly (22.4%, 107/477) and spina bifida (22.2%, 106/477) constituted the most common CNS anomalies, followed by congenital hydrocephalus (17.8%, 85/477). In total, the karyotype was abnormal in 21.0% of all termination of pregnancies (TOPs), with trisomy 18 as the most frequent abnormal karyotype. CHDs, skeletal anomalies, and urinary anomalies were the most common associated organ anomalies. Throughout the study period, there was full agreement between US and postmortem findings of CNS anomalies in 96.9% (407/420) of TOPs.ConclusionIn this study of autopsy findings of CNS anomalies in intact fetuses terminated after prenatal US diagnosis, neural tube defects were most common. About half of the fetuses had isolated serious CNS anomalies, while the other half were CNS anomalies associated with structural and/or chromosomal anomalies. The prenatal US diagnoses were in good concordance with autopsy findings. In particular, due to challenges of diagnoses made early in pregnancy, it is necessary to continue the validation practice.

scholarly journals Recent perspectives on the development of the central nervous system and the genetic background of neural tube defects

2009 ◽  
Vol 150 (19) ◽  
pp. 873-882 ◽  
Author(s):  
József Gábor Joó
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity ◽  
Genetic Basis ◽  
Neural Tube Closure ◽  
Increased Risk ◽  
Underlying Causes ◽  
The Central Nervous System

Neural tube defects are rare and mostly lethal malformations. The pattern of inheritance of these malformations is multifactorial, rendering the identification of the underlying causes. Numerous studies have been conducted to elucidate the genetic basis of the development of the central nervous system. Essential signaling pathways of the development of the central nervous system include the planar cell polarity pathway, which is important for the initiation of neural tube closure as well as well as sonic hedhehog pathway, which regulates the neural plate bending. Genes and their mutations influencing the different stages of neurulation have been investigated for their eventual role in the development of these malformations. Among the environmental factors, folic acid seems to be the most important modifier of the risk of human neural tube defects. Genes of the folate metabolism pathways have also been investigated to identify mutations resulting in increased risk of NTDs. In this review the author has attempted to summarize the knowledge on neural tube defects, with special regard to genetic factors of the etiology.

Neural Tube Defects

1979 ◽  
Vol 1 (6) ◽  
pp. 187-190
Author(s):  
Gerald S. Golden
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Good Deal ◽  
The United States ◽  
Incidence Rates ◽  
Number Of Factors ◽  
The Central Nervous System ◽  
Major Congenital Malformations

The term "neural tube defects" refers to a biologically interrelated series of malformations of the central nervous system and overlying tissues. There is an abnormality in morphogenesis of the brain and/or spinal cord, associated with varying degrees of absence or malformation of the meninges, bone, muscle, and skin. In addition to morphologic similarities, these lesions are related epidemiologically and probably genetically. The terminology is complex, but the lesions can be placed in a simple framework. The Table outlines the most common defects. The malformation occurs early in embryonic development, since the gross structure of the central nervous system has been completed by the 26th gestational day. There are numerous theories of pathogenesis and there is a good deal of subprimate teratologic research, but no single etiologic hypothesis is widely accepted or rigorously proven. Despite this, clinical risk factors have been clearly defined and empiric techniques for prenatal diagnosis have been developed. FREQUENCY AND EPIDEMIOLOGY Neural tube defects represent one of the most common groups of major congenital malformations. Each year approximately 6,000 to 8,000 infants are born with these conditions in the United States. Incidence rates vary among different groups from 0.6 to 4.1/1,000 total births for anencephaly. The risk is not uniformly spread over the entire population; a number of factors are related to initial occurrence and recurrence.

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