scholarly journals Reducing inequities in preventable neural tube defects: the critical and underutilized role of neurosurgical advocacy for folate fortification

2018 ◽  
Vol 45 (4) ◽  
pp. E20 ◽  
Author(s):  
Dagoberto Estevez-Ordonez ◽  
Matthew C. Davis ◽  
Betsy Hopson ◽  
Anastasia Arynchyna ◽  
Brandon G. Rocque ◽  
...  

Neural tube defects (NTDs) are one of the greatest causes of childhood mortality and disability-adjusted life years worldwide. Global prevalence at birth is approximately 18.6 per 10,000 live births, with more than 300,000 infants with NTDs born every year. Substantial strides have been made in understanding the genetics, pathophysiology, and surgical treatment of NTDs, yet the natural history remains one of high morbidity and profound impairment of quality of life. Direct and indirect costs of care are enormous, which ensures profound inequities and disparities in the burden of disease in countries of low and moderate resources. All indices of disease burden are higher for NTDs in developing countries. The great tragedy is that the majority of NTDs can be prevented with folate fortification of commercially produced food. Unequivocal evidence of the effectiveness of folate to reduce the incidence of NTDs has existed for more than 25 years. Yet, the most comprehensive surveys of effectiveness of implementation strategies show that more than 100 countries fail to fortify, and consequently only 13% of folate-preventable spina bifida is actually prevented. Neurosurgeons harbor a disproportionate, central, and fundamental role in the management of NTDs and enjoy high standing in society. No organized group in medicine can speak as authoritatively or convincingly. As a result, neurosurgeons and organized neurosurgery harbor disproportionate potential to advocate for more comprehensive folate fortification, and thereby prevent the most common and severe birth defect to impact the human nervous system. Assertive, proactive, informed advocacy for folate fortification should be a central and integral part of the neurosurgical approach to NTDs. Only by making the prevention of dysraphism a priority can we best address the inequities often observed worldwide.

2021 ◽  
Author(s):  
Li Zhang ◽  
Rui Cao ◽  
Dandan Li ◽  
Yuqing Sun ◽  
Juan Zhang ◽  
...  

Abstract Neural tube defects (NTDs) remain one of the most life-threatening birth defects affecting infants. Most patients with a NTDs eventually develop lifelong disability, which cause significant morbidity and mortality and seriously reduce the quality of life. Therefore, identifiable of novel pathogenic strategies for NTDs patients is urgently required. Increasing evidence indicates that METTL3-mediated m6A modification is present in many physiopathological processes of cell apoptosis and survival. Our results demonstrate that SAM play not only a compensatory role, SAM can also lead to m6A modification changes in neural tube development and regulation. This research provides a good theoretical basis for further research on folic acid deficiency leading to NTDs, reveals the important role of SAM in the development of NTDs, and provides new clue for clinical researchers and clinical work.


Author(s):  
Muhammad Fayyaz ◽  
Arshad Khushdil ◽  
Shehla Baqai

Abstract Neural Tube Defects (NTDs) are serious congenital abnormalities and most of them are incompatible with life. The extremely debilitating quality of life, if one survives, calls for actions to prevent such sufferings.  Experts agree on the role of Folic Acid in primary prevention of NTDs, yet, despite best efforts, the use of Folic Acid has reduced NTDs by only 50%. These cases too can be prevented by employing secondary preventive measures. These involve timely interruption of pregnancy -- a decision which, in addition to a medical judgment, is based on ethics, social, cultural and Muslim religious value systems in Pakistan. Indeed, it is a complex issue but empathic understanding and strong co-ordination, once established between different disciplines, can help parents to decide and opt for necessary secondary prevention by interruption of malformed foetus within the given time frame mandated by medical and religious authorities. Continuous....


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Li Zhang ◽  
Rui Cao ◽  
Dandan Li ◽  
Yuqing Sun ◽  
Juan Zhang ◽  
...  

AbstractNeural tube defects (NTDs) remain one of the most life-threatening birth defects affecting infants. Most patients with NTDs eventually develop lifelong disability, which cause significant morbidity and mortality and seriously reduce the quality of life. Our previous study has found that ethionine inhibits cell viability by disrupting the balance between proliferation and apoptosis, and preventing neural stem cells from differentiating into neurons and astrocytes. However, how ethionine participates in the pathogenesis of neural tube development through N6-methyladenosine (m6A) modification remains unknown. This study aims to investigate METTL3- and ALKBH5-mediated m6A modification function and mechanism in NTDs. Herein, our results demonstrate that SAM play not only a compensatory role, it also leads to changes of m6A modification in neural tube development and regulation. Additionally, these data implicate that METTL3 is enriched in HT-22 cells, and METTL3 knockdown reduces cell proliferation and increases apoptosis through suppressing Wnt/β-catenin signaling pathway. Significantly, overexpression of ALKBH5 can only inhibit cell proliferation, but cannot promote cell apoptosis. This research reveals an important role of SAM in development of NTDs, providing a good theoretical basis for further research on NTDs. This finding represents a novel epigenetic mechanism underlying that the m6A modification has profound and lasting implications for neural tube development.


1995 ◽  
Vol 11 (4) ◽  
pp. 673-684 ◽  
Author(s):  
Dean T. Jamison ◽  
Helen Saxenian ◽  
Yves Bergevin

AbstractCountries worldwide spend huge sums on health—about $1,700 billion a year, or roughly 8% of global income. But the World Development Report 1993: Investing in Health shows that these monies could be spent much more wisely, in the process doing a great deal to help the world's 1 billion poor. Essential national public health and clinical packages are proposed based on assessment of the burden of disease (measured in disability adjusted life years) and the cost-effectiveness of interventions. Governments can play a central role in improving the health of their citizens: they can foster an environment that enables households to improve health and they can also improve their own spending on health, targeting it to support universal access to essential national public health and clinical packages based on the above methods. This is a good example of the concept of needs-based technology assessment, combining the disciplines of epidemiology, economics, and policy formulation. When applied, it should lead to improved effectiveness, efficiency, and equity.


2021 ◽  
Vol 68 (1) ◽  
pp. 40-47
Author(s):  
Catalina Diana Stanica ◽  
◽  
Adrian , Neacsu ◽  
Romina Marina Sima ◽  
Raluca Gabriela Ioan ◽  
...  

Endometriosis is a benign, chronic, estrogen-dependent condition, present in 10% of women of reproductive age. The condition is associated with chronic pelvic pain and infertility that influence their quality of life, as well as married life and has important socio-economic consequences. Despite its high morbidity, its etiopathogenesis is incompletely known. A large number of studies suggest that the ability of endometrial implants to grow in ectopic locations may be correlated with the altered immune response towards the endometriotic tissue. There are enough data to show that immune system mediators, such as cytokines and chemokines, are playing key roles in the onset and olso on progression of endometriosis. There are studies that prove the association between endometriosis and autoimmune diseases. The present paper aims to investigate the implications of the immune response in the etiopathogenesis of endometriosis. The study of cellular or humoral immunity deficits, the presence of autoantibodies associated with this condition, can facilitate the understanding of the mechanisms that lead to the appearance and spread of endometriosis. We hope that this information will ultimately provide the basis for the development of new effective approaches in endometriosis management.


2019 ◽  
Vol 24 (6) ◽  
pp. 823-829 ◽  
Author(s):  
Minha Hong ◽  
Bomi Park ◽  
Sang Min Lee ◽  
Geon Ho Bahn ◽  
Moon Jung Kim ◽  
...  

Objective: We investigated the economic burden and disability-adjusted life years (DALYs) for attention deficit/hyperactivity disorder (ADHD) in the Republic of Korea. Method: Using the National Health Insurance Service claims data for the population aged 19 years or younger, a prevalence-based approach was used to calculate the DALYs of ADHD. Direct medical costs, direct nonmedical costs, and indirect costs resulting from ADHD were estimated to calculate the economic burden of ADHD. Results: A total of 69,353 people in Korea were diagnosed with ADHD in 2012. The burden of ADHD as measured by the prevalence-based approach was 32,605 DALYs. The total economic burden of ADHD was US$47.55 million, which accounted for approximately 0.004% of Korean GDP (gross domestic product) in 2012. Conclusion: Our findings shed light on the considerable burden of ADHD, emphasizing the need for policies that can encourage ADHD treatment and enhance compliance.


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