31,201 results match your criteria Neural Tube Defects


Retrieving the Moral in the Ethics of Maternal-Fetal Surgery.

Camb Q Healthc Ethics 2020 Jul;29(3):480-493

Open-uterine surgery to repair spina bifida, or 'fetal surgery of open neural tube defects,' has generated questions throughout its history-and continues to do so in a variety of contexts. As clinical ethics consultants who worked (Mark J. Bliton) and trained (Virginia L. Read More

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http://dx.doi.org/10.1017/S0963180120000225DOI Listing

Differentiation and localization of interneurons in the developing spinal cord depends on DOT1L expression.

Mol Brain 2020 May 29;13(1):85. Epub 2020 May 29.

Department of Molecular Embryology, Institute of Anatomy and Cell Biology, Faculty of Medicine, Albert-Ludwigs-University Freiburg, 79104, Freiburg, Germany.

Genetic and epigenetic factors contribute to the development of the spinal cord. Failure in correct exertion of the developmental programs, including neurulation, neural tube closure and neurogenesis of the diverse spinal cord neuronal subtypes results in defects of variable severity. We here report on the histone methyltransferase Disruptor of Telomeric 1 Like (DOT1L), which mediates histone H3 lysine 79 (H3K79) methylation. Read More

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http://dx.doi.org/10.1186/s13041-020-00623-3DOI Listing

Approaches to Studying the Genomic Architecture of Complex Birth Defects.

Prenat Diagn 2020 May 28. Epub 2020 May 28.

Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas.

Every year nearly 6 percent of children worldwide are born with a serious congenital malformation, resulting in death or lifelong disability. In the United States, birth defects remain one of the leading causes of infant mortality. Amongst the common structural congenital defects are conditions known as neural tube defects (NTDs). Read More

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http://dx.doi.org/10.1002/pd.5760DOI Listing

Keystone flap: a safe coverage option in the handling of salvage for myelomeningocele.

Childs Nerv Syst 2020 May 28. Epub 2020 May 28.

Universidad Nacional de Colombia, Hospital Universitario Nacional, Bogotá, D.C., Colombia.

Background: Myelomeningocele (MMC) is the most common and severe pathology of open spina bifida compatible with life. Its early closure is an urgent therapeutic objective to reduce the morbidity and mortality of neonates, being a surgical challenge with two major objectives: (1) achieve closure of the dural cerebrum-spinal fluid fistula and (2) ensure a stable and durable soft tissue coverage. The use of fasciocutaneous flaps in keystone design is shown as a safe and stable surgical option with excellent aesthetic results in patients with MMC and who presented failed primary closures. Read More

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http://dx.doi.org/10.1007/s00381-020-04662-yDOI Listing

Prenatal diagnosis of central nervous system abnormalities: Neurosonography versus fetal magnetic resonance imaging.

Eur J Obstet Gynecol Reprod Biol 2020 May 13;250:195-202. Epub 2020 May 13.

Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.

Objective: To share our experience in diagnosis of congenital central nervous system (CNS) abnormalities by fetal magnetic resonance imaging (MRI).

Study Design: This study consisted of 110 pregnancies. Neurosonography (NS) findings were compared with MRI results. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2020.05.013DOI Listing

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital.

Ital J Pediatr 2020 May 24;46(1):72. Epub 2020 May 24.

Department of Health Promotion Sciences, Maternal and Infant Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.

Background: Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period.

Methods: The medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement), demographic (ethnicity/origin, residence) and clinical features (eventual use of assisted reproduction techniques, prenatal diagnosis, gestational age, fetal presentation, type of delivery, birth weight, preoperative imaging, antibiotics and analgesics use, description of the surgery intervention, length of hospital stay, comorbidities, complications), and follow-up. Read More

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http://dx.doi.org/10.1186/s13052-020-00836-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247239PMC

Role of Cbp, p300 and Akt in valproic acid induced neural tube defects in CD-1 mouse embryos.

Reprod Toxicol 2020 May 20;95:86-94. Epub 2020 May 20.

Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada; School of Environmental Studies, Queen's University, Kingston, ON K7L 3N6, Canada. Electronic address:

Valproic acid (VPA), an antiepileptic and mood-stabilizing drug, is prescribed to women of reproductive age. VPA is associated with a 1-2% increase in neural tube defects in offspring following gestational exposure and results in epigenetic modifications induced by perturbations in transcription cofactors. Cbp and p300, two transcription cofactors, play key roles in embryonic neural development. Read More

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http://dx.doi.org/10.1016/j.reprotox.2020.05.008DOI Listing

Nkx2.1 downregulation is involved in brain abnormality induced by excess retinoic acid.

Acta Biochim Biophys Sin (Shanghai) 2020 May 23. Epub 2020 May 23.

Department of Biochemistry and Molecular Biology, Shanxi Key Laboratory of Birth Defect and Cell Regeneration, Shanxi Medical University, Taiyuan 030001, China.

Abnormal development of central nervous system (CNS) caused by neural tube defects is not only a major contributor in the prevalence of stillbirths and neonatal deaths but also causes lifelong physical disability in surviving infants. Due to insufficient known investigated causes, CNS developmental abnormality has brought sever burden on health around the world. From previous results of high throughput transcriptome sequencing, we selected transcription factor Nkx2. Read More

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http://dx.doi.org/10.1093/abbs/gmaa037DOI Listing

Periconceptional folic acid supplement use among women of reproductive age and its determinants in central rural Germany: Results from a cross sectional study.

Birth Defects Res 2020 May 22. Epub 2020 May 22.

Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

Background: Prevalence of neural tube defects (NTD) has not decreased in Germany despite longstanding recommendations for folic acid supplementation. To examine the prevalence of periconceptional folic acid supplement use and associated factors among German women of reproductive age.

Methods: Cross-sectional survey was conducted in hospital-based maternity units in rural Germany. Read More

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http://dx.doi.org/10.1002/bdr2.1714DOI Listing

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

Development 2020 May 21. Epub 2020 May 21.

Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Australia

Laminin alpha 5 (LAMA5) is a member of a large family of proteins which trimerize and then polymerise to form a central component of all basement membranes. Consequently, the protein plays an instrumental role in shaping the normal development of the kidney, skin, neural tube, lung, limb and many other organs and tissues. Pathogenic mutations in some laminins have been shown to cause a range of largely syndromic conditions affecting the competency of the basement membranes to which they contribute. Read More

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http://dx.doi.org/10.1242/dev.189183DOI Listing

An economic analysis of prenatal fetoscopic versus open neural tube defect repair.

Ultrasound Obstet Gynecol 2020 May 21. Epub 2020 May 21.

Department of Obstetrics and Gynecology, Baylor College of Medicine/Texas Children's Hospital.

Objective: Fetal repair of an open neural tube defect by hysterotomy has been shown to reduce the need for shunting and improve motor outcomes for infants, but increases the risk of cesarean section and prematurity. Fetoscopic repair is an alternate approach that may confer similar neurological benefits, but allows for vaginal delivery and reduces the incidence of hysterotomy related complications. We sought to compare the cost of the two approaches, from fetal surgery until neonatal discharge. Read More

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http://dx.doi.org/10.1002/uog.22089DOI Listing

Safety of Antimicrobials During Pregnancy: A Systematic Review of Antimicrobials Considered for Treatment and Postexposure Prophylaxis of Plague.

Clin Infect Dis 2020 May;70(Supplement_1):S37-S50

Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia, USA.

Background: The safety profile of antimicrobials used during pregnancy is one important consideration in the decision on how to treat and provide postexposure prophylaxis (PEP) for plague during pregnancy.

Methods: We searched 5 scientific literature databases for primary sources on the safety of 9 antimicrobials considered for plague during pregnancy (amikacin, gentamicin, plazomicin, streptomycin, tobramycin, chloramphenicol, doxycycline, sulfadiazine, and trimethoprim-sulfamethoxazole [TMP-SMX]) and abstracted data on maternal, pregnancy, and fetal/neonatal outcomes.

Results: Of 13 052 articles identified, 66 studies (case-control, case series, cohort, and randomized studies) and 96 case reports were included, totaling 27 751 prenatal exposures to amikacin (n = 9), gentamicin (n = 345), plazomicin (n = 0), streptomycin (n = 285), tobramycin (n = 43), chloramphenicol (n = 246), doxycycline (n = 2351), sulfadiazine (n = 870), and TMP-SMX (n = 23 602). Read More

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http://dx.doi.org/10.1093/cid/ciz1231DOI Listing

Closing in on Mechanisms of Open Neural Tube Defects.

Trends Neurosci 2020 May 15. Epub 2020 May 15.

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92025, USA. Electronic address:

Neural tube defects (NTDs) represent a failure of the neural plate to complete the developmental transition to a neural tube. NTDs are the most common birth anomaly of the CNS. Following mandatory folic acid fortification of dietary grains, a dramatic reduction in the incidence of NTDs was observed in areas where the policy was implemented, yet the genetic drivers of NTDs in humans, and the mechanisms by which folic acid prevents disease, remain disputed. Read More

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http://dx.doi.org/10.1016/j.tins.2020.04.009DOI Listing

Fetal spina bifida in a pregnant woman following omega gastric bypass: Case report and literature review.

Int J Surg Case Rep 2020 May 11;70:137-139. Epub 2020 May 11.

Department of Digestive Surgery, Centre Hospitalier de Saint-Denis, 2 rue du Docteur Delafontaine, 93200 Saint-Denis, France. Electronic address:

Introduction: Bariatric surgery has been increasingly popular during the last years because of its proven efficacy on obesity and related complications. However, nutrient deficiency is common after surgery, in particular after Roux-en-Y gastric bypass (RYGB) or omega gastric bypass (OGB), due to iatrogenic malabsorption. All vitamins and minerals could be involved, including vitamin B9 which plays an important role in the prevention of neural tube defects during pregnancy. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.04.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229410PMC

Deficiency of the Oxidative Stress-Responsive Kinase p70S6K1 Restores Autophagy and Ameliorates Neural Tube Defects in Diabetic Embryopathy.

Am J Obstet Gynecol 2020 May 13. Epub 2020 May 13.

Department of Obstetrics, Gynecology & Reproductive Sciences, University of Maryland School of Medicine, Baltimore, MD 21201; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201. Electronic address:

Background: Autophagy is highly active in neuroepithelial cells of the developing neuroepithelium, and impaired autophagy leads to neural tube defects (NTDs). We have demonstrated that maternal diabetes induces NTDs, and that impaired autophagy and consequent cellular imbalance, including the endoplasmic reticulum (ER), where critical events occur leading to the induction of diabetic embryopathy. Because the mammalian target of rapamycin (mTOR) pathway suppresses autophagy, we hypothesize that p70S6K1 (70 kDa ribosomal protein S6 kinase 1), a major downstream effector of mTOR, mediates the inhibitory effect of maternal diabetes on autophagy in the developing neuroepithelium. Read More

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http://dx.doi.org/10.1016/j.ajog.2020.05.015DOI Listing

Male-to-female ratios among NTDs and women's periconceptional intake of folic acid.

Birth Defects Res 2020 May 16. Epub 2020 May 16.

Baylor College of Medicine, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Houston, Texas, USA.

Background: About a decade ago, a hypothesis was put forward to explain the preponderance of females among neural tube defect (NTD) fetuses. That hypothesis predicts that a woman's higher levels of early gestational intake of methyl groups, such as folic acid, will be associated with lesser male-to-female ratio differences in NTD-affected births, specifically less preponderance of females. We explored this hypothesis in four distinct studies that investigated human NTDs, obtained information on folic acid, and capitalized on timing of folic acid fortification by investigating data that were collected both prior to and after the 1998 initiation of U. Read More

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http://dx.doi.org/10.1002/bdr2.1708DOI Listing

Principles of Epilepsy Management for Women in Their Reproductive Years.

Front Neurol 2020 28;11:322. Epub 2020 Apr 28.

Department of Neurology, Stony Brook Medicine, Stony Brook, NY, United States.

In the United States, there are over one million women with epilepsy (WWE) in their childbearing years. Pregnancy can be challenging for this population. A number of international registries have documented that children born to these women are at increased risk for major congenital malformations (MCM), lower intelligence quotient scores and neurodevelopmental disorders, when the mother is managed on antiseizure medications (ASMs). Read More

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http://dx.doi.org/10.3389/fneur.2020.00322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198776PMC

Deoxyuracil in DNA in health and disease.

Curr Opin Clin Nutr Metab Care 2020 May 7. Epub 2020 May 7.

Texas A&M AgriLife Research, Texas A&M University, College Station, Texas, USA.

Purpose Of The Review: Genome instability has long been implicated as a primary causal factor in cancer and diseases of aging. The genome is constantly under attack from extrinsic and intrinsic damaging agents. Uracil misincorporation in DNA and its repair is an intrinsic factor resulting in genomic instability and DNA mutations. Read More

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http://dx.doi.org/10.1097/MCO.0000000000000660DOI Listing

The Fallacy of Using Administrative Data in Assessing the Effectiveness of Food Fortification. Comment on: "Folic Acid Fortification and Neural Tube Defect Risk: Analysis of the Food Fortification Initiative Dataset. 2020, , 247".

Nutrients 2020 May 8;12(5). Epub 2020 May 8.

Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA 30322, USA.

Our objective in this comment is to highlight several limitations in an ecological research study that was published in by Murphy and Westmark (2020) in January 2020. The study used data from the Food Fortification Initiative (FFI) website, and applying an ecological study design, made an error of "ecologic fallacy" in concluding that "national fortification with folic acid is not associated with a significant decrease in the prevalence of neural tube defects (NTDs) at the population level". We list study limitations that led to their erroneous conclusions, stemming from incorrect considerations regarding NTD prevalence, the average grain availability for a country, the fortification coverage in a country, the population reach of fortified foods within a country, and the absence of the consideration of fortification type (voluntary vs. Read More

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http://dx.doi.org/10.3390/nu12051352DOI Listing

Nitric Oxide Modulation by Folic Acid Fortification.

Antioxidants (Basel) 2020 May 7;9(5). Epub 2020 May 7.

Okinawa Industrial Technology Center, 12-2 Suzaki, Uruma, Okinawa 904-2234, Japan.

Folic acid (FA) can be protected the neural tube defects (NTDs) causing nitric oxide (NO) induction, but the alleviation mechanism of the detailed FA function against NO has not yet been clarified. This study focused on elucidation of the interaction of FA and NO. FA suppressed nitrite accumulation as the NO indicator in lipopolysaccharide (LPS)-stimulated RAW264. Read More

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http://dx.doi.org/10.3390/antiox9050393DOI Listing

Urological Evaluation of Tethered Cord Syndrome.

Authors:
Kwanjin Park

J Korean Neurosurg Soc 2020 May 1;63(3):358-365. Epub 2020 May 1.

Department of Urology, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

To describe how to perform urological evaluation in children with tethered cord syndrome (TCS). Although a common manifestation of TCS is the development of neurogenic bladder in developing children, neurosurgeons often face difficulty in detecting urological problems in patients with TCS. From a urological perspective, diagnosis of TCS in developing children is further complicated due to the differentiation between neurogenic bladder dysfunctions and transient bladder dysfunctions owing to developmental problems. Read More

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http://dx.doi.org/10.3340/jkns.2020.0072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218197PMC

Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.

Neurogenetics 2020 May 9. Epub 2020 May 9.

Institute of Reproductive and Child Health, National Health Commission Key Laboratory for Reproductive Health; Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Peking University, Beijing, 100191, China.

Select single-nucleotide variants in planar cell polarity (PCP) genes are associated with increased risk for neural tube defects (NTDs). However, whether copy number variants (CNVs) in PCP genes contribute to NTDs is unknown. Considering that CNVs are implicated in several human developmental disorders, we hypothesized that CNVs in PCP genes may be causative factors to human NTDs. Read More

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http://dx.doi.org/10.1007/s10048-020-00613-6DOI Listing

Research progress in relation of infection with pregnancy-related diseases and adverse pregnancy outcomes.

Authors:
Bai Zhou Fen Wang

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2020 Mar;45(3):338-344

Depatment of Gastroenterology, Third Xiangya Hospital, Central South University, Changsha 410013

() is a Gram-negative microaerobic bacterium, which is parasitic on gastric mucosa and is associated with the pathogenesis of chronic gastritis, gastric ulcer, gastric cancer and other gastric diseases. Meanwhile, the infection is related with pregnancy-related diseases, pregnancy outcomes, and the health status of offspring, such as infertility, premature delivery, abortion, infection of newborn and neural tube defects. infection is also related to hyperemesis of pregnancy, preeclampsia, gestational diabetes mellitus, iron deficiency anemia, idiopathic thrombocytopenic purpura. Read More

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http://dx.doi.org/10.11817/j.issn.1672-7347.2020.190032DOI Listing

Valproate and folate: Congenital and developmental risks.

Epilepsy Behav 2020 May 3;108:107068. Epub 2020 May 3.

Department of Pathology and Laboratory Medicine, University of California Davis, USA.

Increasing awareness of the congenital and developmental risks associated with the use of sodium valproate (VPA) has led to recent European guidelines designed to avoid the use of this drug in pregnancy if effective alternative treatments are available. In the general population, it is well established that periconceptual folic acid reduces the risk of neural tube defects (NTDs) and possibly other congenital abnormalities. We here review the evidence 1) that VPA interferes with one-carbon metabolism, including the transport of methylfolate into the brain and the placenta by targeting folate receptors; 2) that VPA effects on the folate metabolic system contribute to congenital and developmental problems associated with VPA exposure; and 3) that genetic factors, notably polymorphisms related to one-carbon metabolism, contribute to the vulnerability to these VPA-induced risks. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.107068DOI Listing

Is natural (6S)-5-methyltetrahydrofolic acid as effective as synthetic folic acid in increasing serum and red blood cell folate concentrations during pregnancy? A proof-of-concept pilot study.

Trials 2020 May 5;21(1):380. Epub 2020 May 5.

Food, Nutrition and Health, Faculty of Land and Food Systems, The University of British Columbia, 2205 East Mall, Vancouver, BC, V6T 1Z4, Canada.

Background: North American health authorities recommend 0.4 mg/day folic acid before conception and throughout pregnancy to reduce the risk of neural tube defects. Folic acid is a synthetic form of folate that must be reduced by dihydrofolate reductase and then further metabolized. Read More

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http://dx.doi.org/10.1186/s13063-020-04320-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201521PMC

Red Blood Cell Folate Likely Overestimated in Australian National Survey: Implications for Neural Tube Defect Risk.

Nutrients 2020 May 1;12(5). Epub 2020 May 1.

Women and Kids Theme, South Australian Health and Medical Research Institute, Adelaide 5000, South Australia, Australia.

In 2009, the Australian government mandated the addition of folic acid to bread flour to reduce the incidence of neural tube defects (NTD)-affected pregnancies. In 2011-2012, the Australian Health Measures Survey (AHMS) reported a mean red blood cell (RBC) folate in women of reproductive age (16-44 y) of 1647 nmol/L. Over 99% of women had an RBC folate ≥ 906 nmol/L, a concentration consistent with a very low risk of NTDs if a woman became pregnant. Read More

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http://dx.doi.org/10.3390/nu12051283DOI Listing

Epidemiology and determinant factors of neural tube defect: Narrative review.

Surg Neurol Int 2020 25;11:81. Epub 2020 Apr 25.

Public Health, Woldia University, Woldia, Amhara, Ethiopia.

Background: The epidemiology of neural tube defect (NTD) is face ignorance from the global community. However, the problem is complex and it is a cause for child mortality and morbidity. We provide the latest insights with respect to determinant factors of NTD. Read More

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http://dx.doi.org/10.25259/SNI_84_2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193254PMC

Preconception telomere length as a novel maternal biomarker to assess the risk of spina bifida in the offspring.

Birth Defects Res 2020 May 2;112(9):645-651. Epub 2020 May 2.

Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Background: Periconception interactions between maternal conditions and environmental and genetic factors are involved in the pathogenesis and prevention of neural tube defects (NTD), such as spina bifida. These factors have in common that they can impair the oxidative pathway, resulting in excessive (chronic) oxidative stress and inflammation.

Methods: Review of the literature concerning underlying mechanisms and biomarkers of aging particularly during reproduction. Read More

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http://dx.doi.org/10.1002/bdr2.1682DOI Listing

Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.

Hum Genet 2020 Apr 30. Epub 2020 Apr 30.

Ministry of Health Key Laboratory of Reproductive Health, Institute of Reproductive and Child Health, Peking University, Beijing, 100191, China.

Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesize that somatic mutations of planar polarity pathway (PCP) genes may play a role in the development of NTDs. Read More

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http://dx.doi.org/10.1007/s00439-020-02172-0DOI Listing

Placental defects lead to embryonic lethality in mice lacking the Formin and PCP proteins Daam1 and Daam2.

PLoS One 2020 30;15(4):e0232025. Epub 2020 Apr 30.

Cancer and Developmental Biology Laboratory, Center for Cancer Research, National Cancer Institute-Frederick, National Institutes of Health, Frederick, Maryland, United State of America.

The actin cytoskeleton plays a central role in establishing cell polarity and shape during embryonic morphogenesis. Daam1, a member of the Formin family of actin cytoskeleton regulators, is a Dvl2-binding protein that functions in the Wnt/Planar Cell Polarity (PCP) pathway. To examine the role of the Daam proteins in mammalian development, we generated Daam-deficient mice by gene targeting and found that Daam1, but not Daam2, is necessary for fetal survival. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232025PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192421PMC

Patterns in Psychiatrists' Prescription of Valproate for Female Patients of Childbearing Age With Bipolar Disorder in Japan: A Questionnaire Survey.

Front Psychiatry 2020 15;11:250. Epub 2020 Apr 15.

Department of Psychiatry, Chiba University Graduate School of Medicine, Chiba, Japan.

Background: Accumulating evidence has shown that valproate has the greatest teratogenic potential for increasing the risk of major congenital malformations, such as neural tube defects, cleft palate, and neurodevelopmental disability. Although valproate is a pharmacological option for acute mania and is used as a stabilization drug for patients with bipolar disorder, some global guidelines state that valproate should not be used for girls or women of childbearing age with bipolar disorder. We investigated patterns in psychiatrists' prescription of valproate for bipolar female patients of childbearing age in Japan. Read More

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http://dx.doi.org/10.3389/fpsyt.2020.00250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176044PMC

Multiple Neural Tube Defects: A Case Report.

Am J Case Rep 2020 Apr 30;21:e922312. Epub 2020 Apr 30.

Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

BACKGROUND Incomplete closure of the neural tube results in congenital anomalies called neural tube defects (NTD). These defects are rarely multiple, and are characterized by loss of central nervous system soft tissue and bony coverings, along with herniation of the involved part of the CNS through the defect. CASE REPORT A newborn female infant was delivered through planned cesarean section due to large occipital encephalocele diagnosed antenatally. Read More

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http://dx.doi.org/10.12659/AJCR.922312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209907PMC

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.

Mol Genet Genomic Med 2020 Apr 28:e1273. Epub 2020 Apr 28.

Department of Ophthalmology, Columbia University, New York, NY, USA.

Background: The C677T variant of the MTHFR (5,10-Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S deficiency is also associated with an increased risk of thromboembolism from reduced thrombin generation. In this report, we describe the case of a patient who presented with multiple retinal vein occlusions likely caused by an underlying combination of a homozygous MTHFR C677T variant and protein S deficiency. Read More

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http://dx.doi.org/10.1002/mgg3.1273DOI Listing

Association between preconception paternal smoking and birth defects in offspring: evidence from the database of the National Free Preconception Health Examination Project in China.

BJOG 2020 Apr 27. Epub 2020 Apr 27.

Obstetrics and Gynaecology Hospital, Fudan University, Shanghai, China.

Objective: To clarify whether preconception paternal smoking has any adverse effects on the offspring.

Design: Prospective, population-based study.

Setting: Preconception registry data from the National Free Preconception Health Examination Project. Read More

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http://dx.doi.org/10.1111/1471-0528.16277DOI Listing

Junctional Neural Tube Defect.

J Korean Neurosurg Soc 2020 May 27;63(3):327-337. Epub 2020 Apr 27.

Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children, NHS Trust, London, UK.

Junctional neurulation represents the most recent adjunct to the well-known sequential embryological processes of primary and secondary neurulation. While its exact molecular processes, occurring at the end of primary and the beginning of secondary neurulation, are still being actively investigated, its pathological counterpart -junctional neural tube defect (JNTD)- had been described in 2017 based on three patients whose well-formed secondary neural tube, the conus, is widely separated from its corresponding primary neural tube and functionally disconnected from corticospinal control from above. Several other cases conforming to this bizarre neural tube arrangement have since appeared in the literature, reinforcing the validity of this entity. Read More

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http://dx.doi.org/10.3340/jkns.2020.0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218194PMC

Syringomyelia in the Tethered Spinal Cords.

J Korean Neurosurg Soc 2020 May 27;63(3):338-341. Epub 2020 Apr 27.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Korea.

Cases of syringomyelia associated with spinal dysraphism are distinct from those associated with hindbrain herniation or arachnoiditis in terms of the suspected pathogenetic mechanism. The symptoms of terminal syringomyelia are difficult to differentiate from the symptoms caused by spinal dysraphism. Nonetheless, syringomyelia has important clinical implications, as it is an important sign of cord tethering. Read More

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http://dx.doi.org/10.3340/jkns.2020.0097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218206PMC

A loop-mediated isothermal amplification (LAMP) based assay for the rapid and sensitive group-specific detection of fumonisin producing Fusarium spp.

Int J Food Microbiol 2020 Jul 16;325:108627. Epub 2020 Apr 16.

Chair of Technical Microbiology, Technical University of Munich, Gregor-Mendel-Str. 4, 85354 Freising, Germany. Electronic address:

Fumonisins are mycotoxins that contaminate maize and maize-based food products, and feed. They have been associated with nerve system disorders in horses, pulmonary edema in swine as well as neural tube defects and esophageal cancer in humans. The fum1 gene codes for a polyketide synthase involved in the biosynthesis of fumonisins. Read More

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http://dx.doi.org/10.1016/j.ijfoodmicro.2020.108627DOI Listing

Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects.

Hum Mutat 2020 Apr 25. Epub 2020 Apr 25.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.

Neural tube defects (NTDs) are severe congenital malformations caused by failed neural tube closure. Recently, autophagy is revealed to play a vital role in neuroepithelium development and neurulation. Autophagy and beclin 1 regulator 1 (Ambra1) is a crucial regulator of autophagy initiation, and its deficiency in mice leads to exencephaly and/or spina bifida. Read More

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http://dx.doi.org/10.1002/humu.24028DOI Listing

Intra-Amniotic Delivery of CRMP4 siRNA Improves Mesenchymal Stem Cell Therapy in a Rat Spina Bifida Model.

Mol Ther Nucleic Acids 2020 Jun 19;20:502-517. Epub 2020 Mar 19.

Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang 110004, P.R. China. Electronic address:

Neural tube defects (NTDs) result in prenatal mortality and lifelong morbidity, and available treatments have limited efficacy. We previously suggested that prenatal bone marrow-derived mesenchymal stem cell (BMSC) transplantation could treat neuron deficiency in NTD rats; however, BMSC-based therapy is limited by the low survival rate of BMSCs when used to treat severe NTDs. Herein, a new therapy using combined BMSC transplantation and small interfering RNA of collapsin response mediator protein 4 (CRMP4 siRNA), which was identified as a novel potential target for the NTD treatment, is proposed. Read More

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http://dx.doi.org/10.1016/j.omtn.2020.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7177192PMC

miR-322 treatment rescues cell apoptosis and neural tube defect formation through silencing NADPH oxidase 4.

CNS Neurosci Ther 2020 Apr 24. Epub 2020 Apr 24.

Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China.

Aims: Failure of neural tube closure resulting from excessive apoptosis leads to neural tube defects (NTDs). NADPH oxidase 4 (NOX4) is a critical mediator of cell growth and death, yet its role in NTDs has never been characterized. NOX4 is a potential target of miR-322, and we have previously demonstrated that miR-322 was involved in high glucose-induced NTDs. Read More

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http://dx.doi.org/10.1111/cns.13383DOI Listing
April 2020
3.931 Impact Factor

Mis-Expression of a Cranial Neural Crest Cell-Specific Gene Program in Cardiac Neural Crest Cells Modulates HAND Factor Expression, Causing Cardiac Outflow Tract Phenotypes.

J Cardiovasc Dev Dis 2020 Apr 20;7(2). Epub 2020 Apr 20.

Herman B Wells Center for Pediatric Research, Departments of Pediatrics, Anatomy and Medical and Molecular Genetics, Indiana Medical School, Indianapolis, IN 46202, USA.

Congenital heart defects (CHDs) occur with such a frequency that they constitute a significant cause of morbidity and mortality in both children and adults. A significant portion of CHDs can be attributed to aberrant development of the cardiac outflow tract (OFT), and of one of its cellular progenitors known as the cardiac neural crest cells (NCCs). The gene regulatory networks that identify cardiac NCCs as a distinct NCC population are not completely understood. Read More

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http://dx.doi.org/10.3390/jcdd7020013DOI Listing

Preconception blood pressure and risk of gestational hypertension and preeclampsia: a large cohort study in China.

Hypertens Res 2020 Apr 22. Epub 2020 Apr 22.

Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health, Peking University Health Science Center, Beijing, China.

Our objective was to examine whether high blood pressure in the preconception period was associated with gestational hypertension and preeclampsia in Chinese women. Data were obtained from the China-US Collaborative Project for Neural Tube Defects Prevention, a large population-based cohort study. We included 45,628 women who were registered before pregnancy in seven counties in South China. Read More

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http://dx.doi.org/10.1038/s41440-020-0438-9DOI Listing

Neural tube defects in four Shetland sheepdog puppies: clinical characterisation and computed tomography investigation.

Aust Vet J 2020 Apr 22. Epub 2020 Apr 22.

Faculty of Science, Sydney School of Veterinary Science, The University of Sydney, Sydney, New South Wales, Australia.

Background: Here, we report on the occurrence of neural tube defects (NTDs) in four related Shetland sheepdog puppies. NTDs present as a range of congenital malformations affecting the spine, skull and associated structures. Despite the severity of these malformations and their relatively high prevalence in humans, the aetiology is not well understood. Read More

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http://dx.doi.org/10.1111/avj.12949DOI Listing

Ethionine Suppresses Mitochondria Autophagy and Induces Apoptosis via Activation of Reactive Oxygen Species in Neural Tube Defects.

Front Neurol 2020 7;11:242. Epub 2020 Apr 7.

Department of Biochemistry and Molecular Biology, Shanxi Medical University, Taiyuan, China.

Abnormal development of central nervous system (CNS) caused by neural tube defects (NTDs) is not only remained the major contributor in the prevalence of stillbirths and neonatal deaths, but also represents a significant cause of lifelong physical disability in the surviving infants. Ethionine is a non-proteinogenic amino acid and antagonist of methionine. Methionine cycle is essential for the elimination of reactive oxygen species (ROS), while lysosomes are involved in the initiation of autophagy. Read More

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http://dx.doi.org/10.3389/fneur.2020.00242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154092PMC

TRPM6 and TRPM7: Novel players in cell intercalation during vertebrate embryonic development.

Dev Dyn 2020 Apr 21. Epub 2020 Apr 21.

Department of Pharmacology, Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, USA.

A common theme in organogenesis is how the final structure of organs emerge from epithelial tube structures, with the formation of the neural tube being one of the best examples. Two types of cell movements co-occur during neural tube closure involving the migration of cells toward the midline of the embryo (mediolateral intercalation or convergent extension) as well as the deep movement of cells from inside the embryo to the outside of the lateral side of the neural plate (radial intercalation). Failure of either type of cell movement will prevent neural tube closure, which can produce a range of neural tube defects (NTDs), a common congenital disease in humans. Read More

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http://dx.doi.org/10.1002/dvdy.182DOI Listing

Uterovaginal Prolapse in a Newborn with Meningomyelocele: Case Report.

J Pediatr Adolesc Gynecol 2020 Apr 15. Epub 2020 Apr 15.

Division of Neonatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Neural tube defects are a group of congenital malformations in which the spinal column is bifid as a result of failed closure of the embryonic neural tube. Although not common, they might be complicated with pelvic organ prolapse mostly due to abnormal innervation and the resulting atrophy of the pelvic floor musculature.

Case: In this case report we present a newborn with uterovaginal prolapse in the setting of meningomyelocele, in whom the prolapse of pelvic organs spontaneously ameliorated after surgical correction of meningomyelocele. Read More

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http://dx.doi.org/10.1016/j.jpag.2020.04.001DOI Listing

Mouse Models of Neural Tube Defects.

Authors:
Irene E Zohn

Adv Exp Med Biol 2020 ;1236:39-64

Center for Genetic Medicine, Children's Research Institute, Children's National Medical Center, Washington, DC, USA.

During embryonic development, the central nervous system forms as the neural plate and then rolls into a tube in a complex morphogenetic process known as neurulation. Neural tube defects (NTDs) occur when neurulation fails and are among the most common structural birth defects in humans. The frequency of NTDs varies greatly anywhere from 0. Read More

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http://dx.doi.org/10.1007/978-981-15-2389-2_2DOI Listing

FvSTUA is a Key Regulator of Sporulation, Toxin Synthesis, and Virulence in .

Mol Plant Microbe Interact 2020 Jun 2:MPMI09190271R. Epub 2020 Jun 2.

USDA, ARS, US National Poultry Research Center, Toxicology & Mycotoxin Research Unit, Athens, GA, U.S.A.

is one of the most important pathogens of maize, causing rot and producing fumonisin mycotoxins during infection. Ingestion of fumonisin-contaminated corn causes underperformance and even fatal toxicity in livestock and is associated with neural tube birth defects, growth stunting in children, and some cancers. StuA, an APSES-class transcription factor, is a major developmental transcriptional regulator in fungi. Read More

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http://dx.doi.org/10.1094/MPMI-09-19-0271-RDOI Listing