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JOURNAL ARTICLE
Becky L Tsang, Carlen Stadnik, Michelle Duong, Helena Pachón, Homero Martinez
(1) Background: Fortifying maize and wheat flours with folic acid has effectively reduced neural tube defect-affected births. However, maize and wheat flours may not be widely consumed in all countries; further reduction in neural tube defect-affected births could benefit from the identification of alternative food vehicles. We aimed to use dietary intake or apparent consumption data to determine alternative food vehicles for large-scale fortification with folic acid in low-income and lower-middle-income countries (LILMICs) and identify current research related to examining the technological feasibility of fortifying alternative foods with folic acid...
April 27, 2024: Nutrients
#2
JOURNAL ARTICLE
Daniela Zizioli, Eugenia Quiros-Roldan, Sara Ferretti, Luca Mignani, Giorgio Tiecco, Eugenio Monti, Francesco Castelli, Isabella Zanella
Dolutegravir (DTG) is one of the most prescribed antiretroviral drugs for treating people with HIV infection, including women of child-bearing potential or pregnant. Nonetheless, neuropsychiatric symptoms are frequently reported. Early reports suggested that, probably in relation to folic acid (FA) shortage, DTG may induce neural tube defects in infants born to women taking the drug during pregnancy. Subsequent reports did not definitively confirm these findings. Recent studies in animal models have highlighted the association between DTG exposure in utero and congenital anomalies, and an increased risk of neurologic abnormalities in children exposed during in utero life has been reported...
April 24, 2024: International Journal of Molecular Sciences
#3
REVIEW
C Martins-Costa, V Wilson, A Binagui-Casas
The anterior-to-posterior (head-to-tail) body axis is extraordinarily diverse among vertebrates but conserved within species. Body axis development requires a population of axial progenitors that resides at the posterior of the embryo to sustain elongation and is then eliminated once axis extension is complete. These progenitors occupy distinct domains in the posterior (tail-end) of the embryo and contribute to various lineages along the body axis. The subset of axial progenitors with neuromesodermal competency will generate both the neural tube (the precursor of the spinal cord), and the trunk and tail somites (producing the musculoskeleton) during embryo development...
2024: Current Topics in Developmental Biology
#4
JOURNAL ARTICLE
Siya Khanna, Susanne Aufreiter, Amanda J MacFarlane, Yaseer Shakur, Deborah L O'Connor
In 1998, Health Canada mandated folic acid fortification of white flour and enriched grain products to prevent neural tube defects. At the time, neither the Canadian Nutrient File (CNF) nor product labels reflected the actual folate content of foods. We aimed to assess if 20 years post-fortification, the CNF values for total folate and synthetic folic acid accurately reflect amounts determined by direct analysis. Using the 2001 Food Expenditure Survey and ACNielsen Company data, we identified 10 to 15 of the most purchased fortified foods across 7 food categories in Canada...
May 10, 2024: Applied Physiology Nutrition and Metabolism
#5
REVIEW
Fikadu Seyoum Tola
Folic acid is the synthetic form of vitamin B9, found in supplements and fortified foods, while folate occurs naturally in foods. Folic acid and its derivatives are extremely important in the synthesis of nucleic acids (DNA and ribose nucleic acid [RNA]) and different proteins. It acts as a coenzyme for the transfer of 1 carbon in the biosynthesis of purine, pyrimidine, and amino acids. Folic acid is critically important in rapidly proliferating tissues, including fetus and trophoblastic tissue to prevent neural tube defect (NTD)...
May 10, 2024: Medicine (Baltimore)
#6
EDITORIAL
Sven Vilain
No abstract text is available yet for this article.
2024: Frontiers in Cell and Developmental Biology
#7
JOURNAL ARTICLE
Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi, Moncef Feki, Raja Marrakchi
OBJECTIVE: This study aims to determine if 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms were associated with fatty acid (FA) levels in mothers of fetuses with neural tube defects (NTDs) and whether these associations were modified by environmental factors. METHODS: Plasma FA composition was assessed using capillary gas chromatography. Concentrations of studied FA were compared between 42 mothers of NTDs fetuses and 30 controls as a function of each polymorphism by the Kruskal-Wallis nonparametric test...
May 2024: Birth Defects Research
#8
JOURNAL ARTICLE
Lei Lu, Meizhu Bai, Yufang Zheng, Xiukun Wang, Zhongzhong Chen, Rui Peng, Richard H Finnell, Tongjin Zhao, Chengtao Li, Bo Wu, Yunping Lei, Jinsong Li, Hongyan Wang
Heparan sulfate proteoglycan 2 (HSPG2) gene encodes the matrix protein Perlecan, and genetic inactivation of this gene creates mice that are embryonic lethal with severe neural tube defects (NTDs). We discovered rare genetic variants of HSPG2 in 10% cases compared to only 4% in controls among a cohort of 369 NTDs. Endorepellin, a peptide cleaved from the domain V of Perlecan, is known to promote angiogenesis and autophagy in endothelial cells. The roles of enderepellin in neurodevelopment remain unclear so far...
March 15, 2024: Science Bulletin
#9
REVIEW
E Marcati, G Meccariello, L Mastino, M Picano, P D Giorgi, G Talamonti
Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due to a failure in the dorsal fusion of the nascent neural tube during embryonic development. MMC is often accompanied by a constellation of collateral conditions, including hydrocephalus, Arnold - Chiari II malformation, brainstem disfunction, hydrosyringomyelia, tethered cord syndrome and scoliosis. Beyond early surgical repair of the dorsal defect, MMC requires lifelong cares...
2024: Advances and Technical Standards in Neurosurgery
#10
REVIEW
Takeshi Hara, Yukoh Ohara, Akihide Kondo
Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without a connecting extradural component, intradural fibrous adhesions, diastematomyelia, and neural placode adhesions following closure of a myelomeningocele.It usually occurs in childhood and adolescence as the spine grows in length, but it can also develop in adulthood. Symptoms of tethered cord syndrome are slowly progressive and varied. Incorrect diagnosis and inappropriate treatment may be provided if the physician lacks knowledge and understanding of this disease...
2024: Advances and Technical Standards in Neurosurgery
#11
JOURNAL ARTICLE
Bin Yuan, Shungen Huang, Xiangming Yan, Hangzhou Wang
No abstract text is available yet for this article.
May 2, 2024: Journal of Korean Neurosurgical Society
#12
JOURNAL ARTICLE
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K McNamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M McDonald-McGinn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson, Allison Elizabeth Ashley Koch, Hal S Meltzer, Joan Le, Kit Sing Au, Hope Northrup, Gyang Markus Bot, Valeria Capra, Richard H Finnell, Zoha Kibar, Philip J Lupo, Helio R Machado, Camila Araújo, Tony Magana, Ahmed I Marwan, Gia Melikishvili, Osvaldo M Mutchinick, Roger E Stevenson, Anna Yurrita, Maha S Zaki, Sara Mumtaz, José Ramón Medina-Bereciartu, Caroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt, Mahmoud M Noureldeen, Aida Ms Salem, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H Westley Phillips, Brian Hanak, Bülent Kara, Ayfer Sakarya Güneş, David D Gonda, Salman Kirmani, Tinatin Tkemaladze, Joseph G Gleeson
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele...
May 3, 2024: Science
#13
JOURNAL ARTICLE
Denise Araújo Lapa, Gustavo Yano Callado, Giulia Catissi, Lucas Trigo, Fernanda Faig-Leite, Ana Paola Arthaud Berthet Sevilla
OBJECTIVE: To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. METHODS: An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed...
2024: Einstein
#14
JOURNAL ARTICLE
Wango Chaulo, Elias C Nyanza, Moses Asori, Deborah S K Thomas, Florentina Mashuda
Congenital anomalies in Sub-Sahara Africa (SSA) are understudied despite the significant pediatric health burden. This retrospective longitudinal hospital-based study evaluated the records of 326 inpatient children under the age of two years with congenital anomalies at Bugando Medical Centre, a tertiary referral hospital in northwestern Tanzania. Classical logistic regression was used in the analysis of congenital malformation of muscles, gastrointestinal malformation, oral facial clefts, neural tube defects, and skeletal malformations...
2024: PLOS Glob Public Health
#15
Amrit Bhusal, Tek Nath Yogi, Jwala Budthapa, Shailendra Katwal, Asim Mahat
Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis...
July 2024: Radiology Case Reports
#16
JOURNAL ARTICLE
Kaustubh Wagh, Vijaya Kancherla, Amanda Dorsey, Helena Pachón, Godfrey P Oakley
BACKGROUND: Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice). METHODS: We used year 2022 data from the Food Fortification Initiative to identify countries (n = 69) with mandatory fortification of grains that includes folic acid...
May 2024: Birth Defects Research
#17
JOURNAL ARTICLE
Wubshet Nebiyu Mogess, Tefera Belsty Mihretie
BACKGROUND: Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour to ascertain the pooled prevalence of congenital anomalies and associated determinants among neonates in Ethiopia. METHOD: PubMed, Google Scholar, CINAHAL, Hinari, and Global Health databases were systematically searched. Joanna Briggs Institute (JBI) assessment checklist was used to assess quality of included studies...
2024: PloS One
#18
JOURNAL ARTICLE
Annie Chen-Carrington, Dean Leonard, Adam Goodreau, Jennifer Rhodes, Gary W Tye
A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two or three layers: endoderm, mesoderm, and ectoderm. It is a rare, benign transformation of somatic tissue most commonly found in the sacrococcygeal region and may resemble an uncomplicated spina bifida on prenatal ultrasonography. In this case report, we describe a female newborn with an extremely rare mature cystic teratoma in the thoracolumbar region. She presented prenatally with a preliminary diagnosis of meningomyelocele, diastematomyelia, and Chiari II malformation and a possible teratoma...
April 29, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#19
JOURNAL ARTICLE
Mikael Aseged Shimekit, Ermias Fikru Yesuf, Simon Mulugeta Teferi, Mahlet Getachew Lemma
BACKGROUND: Lipomyelomeningocele associated with an ulnar club hand in the spectrum of VACTERL association ([costo-]vertebral abnormalities; anal atresia; cardiac defects; tracheal-esophageal abnomalities, including atresia, stenosis, and fistula; renal and radial abnormalities; limb abnormalities; single umbilical artery) is a very rare and infrequently reported phenomenon. Within the fat mass of the lipoma, it is not common to find a well-defined cartilaginous mass with no attachments to the surrounding tissue...
April 29, 2024: J Neurosurg Case Lessons
#20
JOURNAL ARTICLE
Yogeshwari S Ambekar, Carlo Donato Caiaffa, Bogdan J Wlodarczyk, Manmohan Singh, Alexander W Schill, John W Steele, Jitao Zhang, Salavat R Aglyamov, Giuliano Scarcelli, Richard H Finnell, Kirill V Larin
Neurulation is a highly synchronized biomechanical process leading to the formation of the brain and spinal cord, and its failure leads to neural tube defects (NTDs). Although we are rapidly learning the genetic mechanisms underlying NTDs, the biomechanical aspects are largely unknown. To understand the correlation between NTDs and tissue stiffness during neural tube closure (NTC), we imaged an NTD murine model using optical coherence tomography (OCT), Brillouin microscopy, and confocal fluorescence microscopy...
April 29, 2024: Development
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