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Birth Defects Research Jan 2020Neural tube defects (NTDs) result from failure of neural tube closure during embryogenesis. These severe birth defects of the central nervous system include anencephaly...
BACKGROUND
Neural tube defects (NTDs) result from failure of neural tube closure during embryogenesis. These severe birth defects of the central nervous system include anencephaly and spina bifida, and affect 0.5-2 per 1,000 pregnancies worldwide in humans. It has been demonstrated that acetylation plays a pivotal role during neural tube closure, as animal models for defective histone acetyltransferase proteins display NTDs. Acetylation represents an important component of the complex network of posttranslational regulatory interactions, suggesting a possible fundamental role during primary neurulation events. This study aimed to assess protein acetylation contribution to early patterning of the central nervous system both in human and murine specimens.
METHODS
We used both human and mouse (Cited2 ) samples to analyze the dynamic acetylation of proteins during embryo development through immunohistochemistry, western blot analysis and quantitative polymerase chain reaction.
RESULTS
We report the dynamic profile of histone and protein acetylation status during neural tube closure. We also report a rescue effect in an animal model by chemical p53 inhibition.
CONCLUSIONS
Our data suggest that the p53-acetylation equilibrium may play a role in primary neurulation in mammals.
Topics: Acetylation; Anencephaly; Animals; Disease Models, Animal; Embryonic Development; Histone Acetyltransferases; Humans; Mammals; Mice; Neural Tube Defects; Neurulation; Repressor Proteins; Spinal Dysraphism; Trans-Activators; Transcription Factors; Tumor Suppressor Protein p53
PubMed: 31758757
DOI: 10.1002/bdr2.1618 -
The Lancet. Global Health Jul 2022July 20, 2021 marked the 30th anniversary of the publication of the landmark trial by the British Medical Research Council showing unequivocally that maternal intake of... (Review)
Review
July 20, 2021 marked the 30th anniversary of the publication of the landmark trial by the British Medical Research Council showing unequivocally that maternal intake of folic acid (vitamin B) starting before pregnancy prevents most cases of infant spina bifida and anencephaly-two major neural tube defects that are severe, disabling, and often fatal. Mandatory food fortification with folic acid is a safe, cost-effective, and sustainable intervention to prevent spina bifida and anencephaly. Yet few countries implement fortification with folic acid; only a quarter of all preventable spina bifida and anencephaly cases worldwide are currently avoided by food fortification. We summarise scientific evidence supporting immediate, mandatory fortification with folic acid to prevent the development of spina bifida and anencephaly. We make an urgent call to action for the World Health Assembly to pass a resolution for universal mandatory folic acid fortification. Such a resolution could accelerate the slow pace of spina bifida and anencephaly prevention globally, and will assist countries to reach their 2030 Sustainable Development Goals on child mortality and health equity. The cost of inaction is profound, and disproportionately impacts susceptible populations in low-income and middle-income countries.
Topics: Anencephaly; Child; Female; Folic Acid; Food, Fortified; Health Equity; Humans; Infant; Pregnancy; Prevalence; Spinal Dysraphism
PubMed: 35617975
DOI: 10.1016/S2214-109X(22)00213-3 -
Radiology Case Reports Feb 2021Meroanencephaly occurs when there is an incomplete open median calvarial defect. This condition, which is in the spectrum of anencephaly, results in ectopic brain...
Meroanencephaly occurs when there is an incomplete open median calvarial defect. This condition, which is in the spectrum of anencephaly, results in ectopic brain without skin covering and a normal foramen magnum. We present a rare case of a female fetus with meroanencephaly referred to our institution at 24 weeks and imaged with both prenatal ultrasound and MRI, demonstrating an open neural tube defect in the high parietal area and lack of visualization of the supratentorial ventricular system. Postnatal the child survived and went on to require antibiotic therapy and closure of the defect without cerebral spinal fluid diversion but demonstrates severe permanent neurologic deficits.
PubMed: 33343779
DOI: 10.1016/j.radcr.2020.12.006 -
Reproductive Health Oct 2022Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the exact prevalence of this common neural tube defect; thus, carried out through systematic review and meta-analysis, the present study was conducted to determine the worldwide prevalence, incidence and mortality of anencephaly.
METHODS
Cochran's seven-step instructions were used as the guideline. Having determined the research question and inclusion and exclusion criteria, we studied MagIran, SID, Science Direct, WoS, Web of Science, Medline (PubMed), Scopus, and Google Scholar databases. Moreover, the search strategy in each database included using all possible keyword combinations with the help of "AND" and "OR" operators with no time limit to 2021. The I test was used to calculate study heterogeneity, and Begg and Mazumdar rank correlation tests were employed to assess the publication bias. Data were analyzed by Comprehensive Meta-Analysis software (Version 2).
RESULTS
In this study, the statements of Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) were used. In the first stage, 1141 articles were found, of which 330 duplicate studies were omitted. 371 articles were deleted based on the inclusion and exclusion criteria by reviewing the title and abstract of the study. 58 articles were removed by reviewing the full text of the article because it was not relevant to the research. 360 studies with a sample size of 207,639,132 people were considered for the meta-analysis. Overall estimate of the prevalence, incidence and attenuation of anencephaly worldwide were 5.1 per ten thousand births (95% confidence interval 4.7-5.5 per ten thousand births), 8.3 per ten thousand births (95% confidence interval 5.5-9.9 per ten thousand births), 5.5 per ten thousand births (95% confidence interval 1.8-15 per ten thousand births) respectively the highest of which according to the subgroup analysis, belonged to the Australian continent with 8.6 per ten thousand births (95% confidence interval 7.7-9.5 per ten thousand births).
CONCLUSION
The overall prevalence of anencephaly in the world is significant, indicating the urgent need for preventive and treating measures.
Topics: Anencephaly; Australia; Humans; Neural Tube Defects; Prevalence
PubMed: 36253858
DOI: 10.1186/s12978-022-01509-4 -
Journal of Medical Ethics Feb 2006Neuroscience and technological medicine in general increasingly faces us with the imminent reality of cyborgs-integrated part human and part machine complexes. If my... (Review)
Review
Neuroscience and technological medicine in general increasingly faces us with the imminent reality of cyborgs-integrated part human and part machine complexes. If my brain functions in a way that is supported by and exploits intelligent technology both external and implantable, then how should I be treated and what is my moral status-am I a machine or am I a person? I explore a number of scenarios where the balance between human and humanoid machine shifts, and ask questions about the moral status of the individuals concerned. The position taken is very much in accordance with the Aristotelian idea that our moral behaviour is of a piece with our social and personal skills and forms a reactive and reflective component of those skills.
Topics: Anencephaly; Brain Injuries; Craniocerebral Trauma; Cybernetics; Electric Stimulation; Humans; Man-Machine Systems; Morals; Personality Disorders; Prostheses and Implants; Robotics; Spirituality; Vision Disorders
PubMed: 16446411
DOI: 10.1136/jme.2005.012583 -
Revista Medica Del Instituto Mexicano... Feb 2022Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of...
BACKGROUND
Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of closure of the neural tube which involves skin, paravertebral muscles, connective tissue, bone and spinal cord.
CLINICAL CASE
36-year-old woman with a pregnancy of 25.3 weeks, corroborated by second trimester ultrasound. She had a previous pregnancy with anencephaly and a poor prenatal care in the actual pregnancy. An obstetric ultrasound was performed with the diagnosis of craniorachischisis, which is why the delivery was performed by vaginal birth with labor induction with prostaglandins.
CONCLUSIONS
The craniorachischisis is a rare defect of the neural tube that must be diagnosed early because it is a pathology incompatible with life.
Topics: Adult; Anencephaly; Central Nervous System; Female; Humans; Neural Tube Defects; Pregnancy; Ultrasonography, Prenatal
PubMed: 35274915
DOI: No ID Found -
British Medical Journal Mar 1958
Topics: Abnormalities, Severe Teratoid; Anencephaly
PubMed: 13510775
DOI: No ID Found -
Epilepsia 2003Neural tube defects (NTDs)-malformations secondary to abnormal neural tube closure between the third and fourth weeks of gestational age-have a complex and imperfectly... (Review)
Review
Neural tube defects (NTDs)-malformations secondary to abnormal neural tube closure between the third and fourth weeks of gestational age-have a complex and imperfectly understood etiology in which both genetic and environmental factors appear to be involved. A number of specific chromosomal or single-gene disorders, presumably not affected by environmental influences, are associated with the development of NTDs, but such syndromal cases account for a small proportion of NTDs in live-born infants. Analysis of recurrence patterns within families and of twin-concordance data provides evidence of a genetic influence in nonsyndromal cases, but factors such as socioeconomic status and geographic area (independent of race or ethnicity) are also associated with variations in the incidence of NTDs. The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected pregnancies has undermined the reliability of birth prevalence rate as an estimate of incidence. Some occupational and other exposures, including maternal use of antiepileptic drugs (AEDs), are associated with increased risk for NTDs. Among women who have had an NTD-affected pregnancy, recurrence risk is markedly higher than the risk for a first NTD-affected pregnancy in the general population. There is strong evidence, overall, for a protective effect of adequate folate consumption. In some high-risk groups, however, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk.
Topics: Anencephaly; Cross-Cultural Comparison; Dietary Supplements; Female; Folic Acid; Folic Acid Deficiency; Genetic Heterogeneity; Global Health; Humans; Infant, Newborn; Neural Tube Defects; Pregnancy; Prevalence; Recurrence; Risk Factors; Spinal Dysraphism
PubMed: 12790881
DOI: 10.1046/j.1528-1157.44.s3.2.x -
Biomedica : Revista Del Instituto... Sep 2022Introduction: Rare diseases are characterized by their low prevalence, chronically debilitating and life-threatening nature. Objective: To determine the characteristics...
Introduction: Rare diseases are characterized by their low prevalence, chronically debilitating and life-threatening nature. Objective: To determine the characteristics and factors associated with mortality due to rare diseases in Chile from 2002 to 2017. Materials and methods: We conducted an analytical cross-sectional study based on secondary mortality database from the Departamento de Estadística e Información en Salud (DEIS), Ministerio de Salud de Chile (Department of Statistics and Health Information, Chile Ministry of Health) from 2002 to 2017. The specific mortality rates adjusted by age and sex were calculated. A normality analysis was conducted using the Kolmogorov-Smirnov test. In addition, a chi-square test of independence for associations and multivariate logistic regression was applied to determine the probability of death. Results: Between 2008 and 2012 there were 10,718 deaths due to rare diseases, 53.2% of them occurred among women. The average annual mortality rate was 3.9 per 100,000 inhabitants: 4.1 in women and 3.8 in men. The main causes of mortality among women were Creutzfeldt-Jakob disease, anencephaly and autoinmune hepatitis, and among men, Creutzfeldt-Jakob disease, muscular dystrophy and anencephaly. Women are 1.75 times more likely to die than men (adjusted Odds Ratio (aOR) = 1.75; 95% CI: 1.69 - 1.82). The highest probability of dying occurred among children aged 0-4 years (aOR = 15.30; 95% CI: 14.10 - 19.20). Conclusion: Overall, the burden of mortality due to rare disease was higher among women of all ages in Chile between 2002 and 2017.
Topics: Anencephaly; Child; Chile; Creutzfeldt-Jakob Syndrome; Cross-Sectional Studies; Female; Humans; Male; Rare Diseases
PubMed: 36122290
DOI: 10.7705/biomedica.6281 -
Birth Defects Research. Part A,... Nov 2012In regions where prenatal screening for anencephaly and spina bifida is widespread, many cases of these defects are diagnosed prenatally. The purpose of this study was... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
In regions where prenatal screening for anencephaly and spina bifida is widespread, many cases of these defects are diagnosed prenatally. The purpose of this study was to estimate the frequency of termination of pregnancy (TOP) following prenatal diagnosis of anencephaly or spina bifida and to investigate factors associated with TOP that might lead to selection bias in epidemiologic studies.
METHODS
We included articles indexed in Medline or Embase between 1990 and May 2012 reporting the frequency of TOP following prenatal diagnosis of anencephaly or spina bifida with English-language abstracts, 20 or more prenatally diagnosed cases, and at least half of the study years in 1990 or later. We summarized the frequency of TOP across studies using random-effects metaanalysis and stratified results by fetal and study characteristics.
RESULTS
Among the 17 studies identified, 9 included anencephaly and 15 included spina bifida. Nine were from Europe, six were from North America, and one each was from South America and Asia. The overall frequency of TOP following prenatal diagnosis was 83% for anencephaly (range, 59-100%) and 63% for spina bifida (range, 31-97%). There were insufficient data to stratify the results for anencephaly; TOP for spina bifida was more common when the prenatal diagnosis occurred at less than 24 weeks' gestation, with defects of greater severity, and in Europe versus North America.
CONCLUSIONS
Because underascertainment of birth defects might be more likely when the pregnancy ends in TOP and TOP is associated with fetal characteristics, selection bias is possible in epidemiologic studies of anencephaly or spina bifida.
Topics: Abortion, Induced; Americas; Anencephaly; Asia; Europe; Female; Gestational Age; Humans; Pregnancy; Prenatal Diagnosis; Publication Bias; Spinal Dysraphism
PubMed: 23097374
DOI: 10.1002/bdra.23086