Neural Tube Defects in Tunisia: Epidemiological, Biochemical and Genetic Factors.

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-09 DOI:10.1080/15513815.2025.2514602

Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi

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引用次数: 0

Abstract

Introduction: This study resumed epidemiological, biochemical and genetic factors associated with the occurrence of neural tube defects in Tunisia. Material and methods: This work builds on our previously published investigations, utilizing data retrospectively collected during (1991-2011), and prospectively collected between January 1, 2012, and December 30, 2013. Results: Our studies have demontrated that plasma folate, vitamin B12 and vitamin D concentrations were significantly lower in cases compared with controls. Homocysteine concentrations were significantly higher in cases compared with controls. Cases had higher concentrations of heptadecanoic acid, linolelaidic acid and arachidonic acid/(eicosapentaenoic acid + docosahexaenoic acid) ratio than controls. Nervonic acid, arachidonic acid, adrenic acid, Eicosapentaenoic Acid, Docosahexaenoic Acid, and omega 3 polyunsatured fatty acids concentrations were significantly lower in cases. Conclusion: Such research would contribute to a better understanding of the biochemical and genetic variances in mothers, highlighting the suitable status of vitamins, homocysteine, lipid profile, and genotype.

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突尼斯神经管缺陷：流行病学、生化和遗传因素。

前言：本研究恢复了与突尼斯神经管缺损发生相关的流行病学、生化和遗传因素。材料和方法：这项工作建立在我们之前发表的调查基础上，利用了1991-2011年期间回顾性收集的数据，以及2012年1月1日至2013年12月30日期间前瞻性收集的数据。结果：我们的研究表明，与对照组相比，这些病例的血浆叶酸、维生素B12和维生素D浓度显著降低。同型半胱氨酸浓度明显高于对照组。病例中十六烷酸、亚油酸和花生四烯酸/（二十碳五烯酸+二十二碳六烯酸）浓度比均高于对照组。神经酸、花生四烯酸、肾上腺酸、二十碳五烯酸、二十二碳六烯酸和omega - 3多不饱和脂肪酸浓度显著降低。结论：该研究有助于更好地了解母亲的生化和遗传差异，突出维生素、同型半胱氨酸、脂质谱和基因型的适宜状态。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.