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About 653 results

ALLMedicine™ Anencephaly Center

Research & Reviews  210 results

MTHFD1 is critical for the negative regulation of retinoic acid receptor signalling in ...
https://doi.org/10.1093/brain/awad084
Brain : a Journal of Neurology; Xiaolu X, Chuang L et. al.

Mar 18th, 2023 - Neural tube defects (NTDs) are the most severe congenital malformations that result from failure of neural tube closure during early embryonic development, and the underlying molecular mechanisms remain elusive. Retinoic acid (RA), an active deriv...

Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube de...
https://doi.org/10.1002/mgg3.2150
Molecular Genetics & Genomic Medicine; Wang F, Cheng H et. al.

Feb 23rd, 2023 - Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1...

Prevented cases of neural tube defects and cost savings after folic acid fortification ...
https://doi.org/10.1371/journal.pone.0281077
PloS One; Rodrigues VB, Silva END et. al.

Feb 23rd, 2023 - Anencephaly, encephalocele, and spina bifida are congenital neural tube defects and are the main causes of neonatal morbidity and mortality and impose a heavy economic burden on health systems. This study to estimates the direct costs of neural tu...

Pathogenic/likely pathogenic copy number variations and regions of homozygosity in feta...
https://doi.org/10.1007/s00404-022-06866-w
Archives of Gynecology and Obstetrics; Zhi Y, Liu L et. al.

Dec 5th, 2022 - To explore pathogenic/likely pathogenic copy number variations (P/LP CNVs) and regions of homozygosity (ROHs) in fetal central nervous system (CNS) malformations. A cohort of 539 fetuses with CNS malformations diagnosed by ultrasound/MRI was retro...

The role of neurosurgeons in global public health: the case of folic acid fortification...
https://doi.org/10.3171/2022.9.PEDS22188
Journal of Neurosurgery. Pediatrics; Shlobin NA, Roach JT et. al.

Nov 6th, 2022 - The global neurosurgery movement arose at the crossroads of unmet neurosurgical needs and public health to address the global burden of neurosurgical disease. The case of folic acid fortification (FAF) of staple foods for the prevention of spina b...

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Guidelines  1 results

Practice Bulletin No. 187: Neural Tube Defects.
https://doi.org/10.1097/AOG.0000000000002412
Obstetrics and Gynecology;

Dec 1st, 2017 - Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrom...

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Drugs  3 results see all →

Clinicaltrials.gov  6 results

Congenital Anomalies in Infants of Diabetic Mother
https://clinicaltrials.gov/ct2/show/NCT05393167

May 26th, 2022 - Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal ag...

Metals/Vitamins Levels in NTD
https://clinicaltrials.gov/ct2/show/NCT04523233

Aug 31st, 2021 - Detailed Description: This observational case-control study will be conducted at the Department of Obstetrics and Gynecology, Cengiz Gokcek Public Hospital, Gaziantep, Turkey, between August 2020 and March 2021. The protocol was approved by the Et...

Genetics of Spina Bifida and Anencephaly
https://clinicaltrials.gov/ct2/show/NCT00636233

Apr 2nd, 2020 - The goal of this research study is to discover the genetic and environmental factors that contribute to the cause of neural tube defects such as spina bifida and anencephaly. Ultimately, this type of research may result in improved diagnosis, impr...

Vitamin B9 Supplementation Recommendations in Rennes CHU
https://clinicaltrials.gov/ct2/show/NCT04195542

Dec 12th, 2019 - Neural tube closure defects are among the most common birth defects. They are also called Spina Bifida or spinal dysraphism. According to the latest epidemiological studies in Europe based on the EUROCAT register (1991-2011), the prevalence of neu...

Genetics of Neural Tube Defects
https://clinicaltrials.gov/ct2/show/NCT01253746

Dec 3rd, 2010 - The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and environmental factors that co...

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News  36 results

Folic Acid Being Added to Some Flour 
https://www.medscape.com/viewarticle/959047

Sep 20th, 2021 - Folic acid is to be added to non-wholemeal wheat flour across the UK to help reduce neural tube defects in babies by around 20%, or 200 cases a year. The decision follows a consultation in 2019 and is based on evidence of successful fortification ...

First Trimester Use of Macrolide Antibiotics and Risk of Congenital Anomaly
https://www.medscape.com/viewarticle/944995

Feb 2nd, 2021 - Takeaway First trimester use of macrolide antibiotics (mainly erythromycin, spiramycin, clarithromycin and azithromycin) was not associated with an increased risk of congenital heart defects (CHDs) as a whole. Erythromycin, clarithromycin and azit...

Consultation on Fortifying Flour With Folic Acid 
https://www.medscape.com/viewarticle/902737

Oct 23rd, 2018 - The Government plans to consult on the mandatory fortification of flour with folic acid in a move to reduce birth defects. The consultation will start early next year and will look at the evidence around folic acid fortification as well as its pra...

Birth Defects Tied to Low Carb Diets (ScienceDaily)
https://www.medpagetoday.com/obgyn/pregnancy/70753

Jan 25th, 2018 - During pregnancy, low- and no-carbohydrate diets may not be a good choice, ScienceDaily reported. Originally published in the Birth Defects Research journal, the study found low-carb diets throughout pregnancy were associated with a 30% higher ris...

Crucial Vote in Brazil Could Lead to Ban on Abortion for Rape Victims
https://www.medscape.com/viewarticle/888996

Nov 22nd, 2017 - RIO DE JANEIRO (Thomson Reuters Foundation) - More pregnant women could die in Brazil if it passes a law banning all abortions on Tuesday, including in cases of rape or when the mother's life is in danger, critics said. Thousands of women took to ...

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Patient Education  5 results see all →