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Int J Environ Res Public Health 2022 May 7;19(9). Epub 2022 May 7.

Institute of Health Sciences, University of Rzeszow, 35-959 Rzeszów, Poland.

Background: This study was conducted to evaluate the co-occurrence of hydrocephalus treated/untreated surgically and congenital nervous system disorders or neurological syndromes with symptoms visible since childhood, and with somatic development disorders, based on significant data obtained during admission to a neurological rehabilitation unit for children and adolescents.

Methods: The study applied a retrospective analysis of data collected during hospitalization of 327 children and adolescents, aged 4-18 years, all presenting congenital disorders of the nervous system and/or neurological syndromes associated with at least one neurodysfunction that existed from early childhood. To allow the identification of individuals with somatic development disorders in the group of children and adolescents with hydrocephalus treated/untreated surgically, the adopted criteria considered the z-score values for body height, body weight, head circumference, body mass index, and head circumference index. Read More

NPJ Genom Med 2022 May 13;7(1):31. Epub 2022 May 13.

Maternal and Child Health Hospital of Hubei Province, Hubei, 430070, China.

Structural anomalies of the central nervous system (CNS) are one of the most common fetal anomalies found during prenatal imaging. However, the genomic architecture of prenatal imaging phenotypes has not yet been systematically studied in a large cohort. Patients diagnosed with fetal CNS anomalies were identified from medical records and images. Read More

Clin Pharmacol Ther 2022 May 13. Epub 2022 May 13.

Department of Pharmaceutical Sciences, University of Toronto, Leslie Dan Faculty of Pharmacy, 144 College Street, Toronto, ON, M5S 3M2, Canada.

During its 4 transporter workshop in 2021, the International Transporter Consortium (ITC) provided updates on emerging clinically relevant transporters for drug development. Previously highlighted and new transporters were considered based on up-to-date clinical evidence of their importance in drug-drug interactions and potential for altered drug efficacy and safety, including drug-nutrient interactions leading to nutrient deficiencies. For the first time, folate transport pathways (PCFT, RFC, and FRα) were examined in-depth as a potential mechanism of drug-induced folate deficiency and related toxicities (e. Read More

FASEB J 2022 May;36 Suppl 1

Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA.

Craniofacial deformities, specifically non-syndromic cleft lip with or without palate (NSCL/P), are among the most common class of birth defects. Complex interactions between genetic and environmental factors contribute to the development of NSCL/P. Many genes have been associated with this disease, including ARHGAP29. Read More

FASEB J 2022 May;36 Suppl 1

Anatomy and Cell Biology, McGill University, Montreal, QC.

EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We previously showed that homozygous deletion of Eftud2 in neural crest cells causes brain and craniofacial malformations, affecting the same precursors as in MFDM patients. This phenotype was partially rescued by inhibition of the P53-pathway using pifithrin-α. Read More

FASEB J 2022 May;36 Suppl 1

Brigham Young University, Springville, UT.

More than 300,000 infants worldwide are born with neural tube defects (NTD), making it the second most common birth defect in the world. Many genetic and environmental factors have been identified as drivers of NTDs, some of which have been tied to damage of tight junctions (TJ), which are critical for the success of neural tube folding. Claudins (CLDN), occludin (OCLN) and junctional adhesion molecules (JAMs) are essential components of the TJ and are key players in its function. Read More

FASEB J 2022 May;36 Suppl 1

Human Genetics, McGill University, Montreal, QC.

The major spliceosome consists of U1, U2, U5, and U4/U6 small nuclear ribonucleoprotein (snRNPs), and each snRNP has distinct and sequential roles during the mRNA splicing process. Mutations in the core components of the spliceosome are associated with brain and neurological defects. The goal of this study is to examine the role of three core spliceosomal components, SNRPB, SF3B4, and EFTUD2, in brain patterning and morphogenesis, and whether or not they are required in the neural tube or neural crest cells for brain development. Read More

Arch Gynecol Obstet 2022 May 12. Epub 2022 May 12.

Department of Gynecologic Oncology and Obstetrics, Professor Witold Orlowski Public Teaching Hospital, Warsaw, Poland.

Objectives: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).

Methods: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department.

Results: The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (- 0. Read More

FASEB J 2022 May;36 Suppl 1

University of Colorado Boulder, Boulder, CO.

Neural tube defects (NTDs) are a common congenital disorder resulting from failed neural tube formation, the precursor of the brain and spinal cord. The complex etiology of NTDs involve both genetic and environmental factors, thus investigating gene-environment interactions is critical to understanding how NTDs occur or how NTDs may be prevented. For example, iron deficiency is among the most prevalent micronutrient deficiencies in pregnancy and there is evidence that iron deficiency can increase the risk of NTDs. Read More

PLoS One 2022 10;17(5):e0268225. Epub 2022 May 10.

Department of Orthopaedic Surgery, UConn Health, Farmington, Connecticut, United States of America.

Notch receptors are determinants of cell fate and function, and play an important role in the regulation of bone development and skeletal remodeling. Lateral Meningocele Syndrome (LMS) is a monogenic disorder associated with NOTCH3 pathogenic variants that result in the stabilization of NOTCH3 and a gain-of-function. LMS presents with neurological developmental abnormalities and bone loss. Read More

Pan Afr Med J 2022 17;41:143. Epub 2022 Feb 17.

Sree Balaji Dental College and Hospital, Chennai, Tamil Nadu, India.

J Radiol Case Rep 2021 Dec 1;15(12):1-9. Epub 2021 Dec 1.

Department of Radiology, Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA.

Encephalocele is protrusion of brain parenchyma through a defect in the cranium. It is classified into various types based on the defect location: sincipital (fronto-ethmoidal), basal (trans-sphenoidal, spheno-ethmoidal, trans-ethmoidal, and spheno-orbital), occipital and parietal. Double encephaloceles are very rare with only a handful of cases reported in the literature and most of these cases involved either occipital or sub-occipital region. Read More

Dis Model Mech 2022 May 6. Epub 2022 May 6.

Institute for Pediatric Regenerative Medicine of Shriners Hospitals for Children-Northern California, Department of Biochemistry and Molecular Medicine, University of California at Davis, School of Medicine, Sacramento, California 95817, USA.

Neural tube defects (NTDs) are among common and severe birth defects with poorly understood etiology. Mutations in the Wnt coreceptor LRP6 are associated with NTDs in humans. Either gain-of-function (GOF) or loss-of-function (LOF) mutations of Lrp6 can cause NTDs in mice. Read More

Sci Rep 2022 May 3;12(1):7196. Epub 2022 May 3.

The Enteric Nervous System in Gut and Brain Disorders INSERM, TENS, Université de Nantes, Nantes, France.

Our objectives were to better characterize the colorectal function of patients with Spina Bifida (SB). Patients with SB and healthy volunteers (HVs) completed prospectively a standardized questionnaire, clinical evaluation, rectal barostat, colonoscopy with biopsies and faecal collection. The data from 36 adults with SB (age: 38. Read More

BMJ Open 2022 May 3;12(5):e048092. Epub 2022 May 3.

Institute of Medical Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.

Objectives: To identify any associations between in utero exposure to five over-the-counter (non-prescription) analgesics (paracetamol, ibuprofen, aspirin, diclofenac, naproxen) and adverse neonatal outcomes.

Design: Retrospective cohort study using the Aberdeen Maternity and Neonatal Databank.

Participants: 151 141 singleton pregnancies between 1985 and 2015. Read More

WIREs Mech Dis 2022 May 3:e1559. Epub 2022 May 3.

Molecular Cellular Developmental Biology, University of Colorado, Boulder, Colorado, USA.

Neural tube closure (NTC) is crucial for proper development of the brain and spinal cord and requires precise morphogenesis from a sheet of cells to an intact three-dimensional structure. NTC is dependent on successful regulation of hundreds of genes, a myriad of signaling pathways, concentration gradients, and is influenced by epigenetic and environmental cues. Failure of NTC is termed a neural tube defect (NTD) and is a leading class of congenital defects in the United States and worldwide. Read More

Ann Plast Surg 2022 Apr 2. Epub 2022 Apr 2.

Department of Plastic and Reconstructive Surgery, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Republic of Korea.

Introduction: Myelomeningocele is the most common form of neural tube anomalies. Early reliable skin coverage should be achieved to reduce central nervous system infections. The keystone flaps are gaining popularity for myelomeningocele defect reconstruction. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2022 ;122(4):7-15

Kazan State Medical University of the Ministry of Health of Russia, Kazan, Russia.

A review on the pathogenesis, clinical picture and diagnosis of dislocations of the cerebellar tonsils in the large occipital foramen and the spectrum of Chiari malformations Type 1 is provided. The issues of surgical treatment of such patients are discussed. Read More

Front Cell Dev Biol 2022 11;10:777844. Epub 2022 Apr 11.

Regulation of Gene Expression, Pennington Biomedical Research Center, Louisiana State University System, Baton Rouge, LA, United States.

Maternal diabetes in early pregnancy increases the risk for birth defects in the offspring, particularly heart, and neural tube defects. While elevated glucose levels are characteristic for diabetic pregnancies, these are also accompanied by hyperlipidemia, indicating altered nutrient availability. We therefore investigated whether changes in the expression of nutrient transporters at the conception site or in the early post-implantation embryo could account for increased birth defect incidence at later developmental stages. Read More

Cell Rep 2022 04;39(4):110666

Department of Molecular Biosciences, Patterson Labs, The University of Texas at Austin, 2401 Speedway, Austin, TX 78712, USA. Electronic address:

Convergent extension (CE) is an evolutionarily conserved collective cell movement that elongates several organ systems during development. Studies have revealed two distinct cellular mechanisms, one based on cell crawling and the other on junction contraction. Whether these two behaviors collaborate is unclear. Read More

Childs Nerv Syst 2022 Apr 26. Epub 2022 Apr 26.

College of Medicine, University of the Philippines Manila, Pedro Gil Street, Ermita, Manila, Philippines.

Background: Spina bifida is a type of a neural tube defect which affects 243.14 per 100,000 babies in Asia. Research articles on spina bifida have increased in the recent years. Read More

BMJ Case Rep 2022 Apr 25;15(4). Epub 2022 Apr 25.

Department of Gynecology and Obstetrics, Centro Hospitalar do Médio Ave EPE, Santo Tirso, Portugal.

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. Read More

Fungal Genet Biol 2022 Apr 22;160:103696. Epub 2022 Apr 22.

USDA, Agricultural Research Service, National Center for Agricultural Utilization Research, Mycotoxin Prevention and Applied Microbiology Unit, 1815 N. University St., Peoria, IL 61604, USA.

The genus Fusarium includes pathogens of global concern to animal and plant health. Natural products (NPs) synthesized by Fusarium can contribute to pathogenesis or competitiveness of the fungus in the environment and to animal diseases, including cancer and neural tube defects. Polyketide synthases (PKSs) are a family of large, multi-domain enzymes that are required for synthesis of most fungal NPs. Read More

Neurol Clin 2022 May 31;40(2):297-307. Epub 2022 Mar 31.

National Institutes of Health, National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch, 10 Center Drive, Room 3D20, Bethesda, MD, 20892 USA. Electronic address:

Chiari Malformation Type I (CMI) is a congenital malformation diagnosed by MRI findings of at least 5 mm of cerebellar ectopy below the foramen magnum. CM1 is frequently associated with syringomyelia. Herein, we discuss the history of CMI and syringomyelia, including early pathological and surgical studies. Read More

Front Nutr 2022 8;9:873900. Epub 2022 Apr 8.

Department of Biochemistry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

Background: Neural tube defects (NTDs) are prevalent congenital defects associated with pre-pregnancy diet with low levels of maternal folate. They are linked to severe morbidity, disability, and mortality, as well as psychological and economic burdens.

Objective: The goal of this study was to determine the levels of folate, vitamin B12, and homocysteine in the blood of women who had a pregnancy impacted by NTDs. Read More

Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Mar 25;50(7):1-9. Epub 2021 Mar 25.

2. School of Public Health, Zhejiang University School of Medicine, Hangzhou 310058, China.

: To analyze the incidence, trends and related factors of birth defects in Huai'an from 2008 to 2020. : The surveillance data from maternal and child health system of Huai'an from 2008 to 2020 and Huai'an Statistical Yearbook were used for analysis. Taking the annual change percentage and average annual change percentage (AAPC) as the main outcome indicators, the JoinPoint regression analysis was performed to estimate the changing trend of birth defects from 2008 to 2020. Read More

Int J Mol Sci 2022 Apr 10;23(8). Epub 2022 Apr 10.

Department of Biochemistry and Biotechnology, University of Life Sciences, 60-632 Poznań, Poland.

Dysregulation of one-carbon metabolism affects a wide range of biological processes and is associated with a number of diseases, including cardiovascular disease, dementia, neural tube defects, and cancer. Accumulating evidence suggests that one-carbon metabolism plays an important role in COVID-19. The symptoms of long COVID-19 are similar to those presented by subjects suffering from vitamin B deficiency (pernicious anemia). Read More

Acta Ortop Mex 2021 Sep-Oct;35(5):399-404

Ortopedia y Traumatología. Hospital Italiano de Buenos Aires, Argentina.

Objective: The aim of the study was to evaluate the outcomes and complications in patients with myelomeningocele who have undergone spinal fusion for neuromuscular scoliosis.

Material And Methods: Retrospective study of 40 consecutive patients with myelomeningocele with neuromuscular scoliosis who underwent spinal arthrodesis, treated at our center between July 1991 and July 2028.

Results: Mean follow up was 10 years. Read More

Front Pediatr 2022 5;10:789158. Epub 2022 Apr 5.

Department of Health and Functioning, Western Norway University of Applied Sciences, Bergen, Norway.

Background: The preventive effect of maternal folic acid use on offspring neural tube defects is well-established. However, a putative link between supplement use and other neurodevelopmental outcome is inconsistent. The aim of this study was to examine the association of folic acid-containing supplement use before and during pregnancy with motor function in children aged 3-18 months. Read More

Toxins (Basel) 2022 Apr 13;14(4). Epub 2022 Apr 13.

Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.

Humans are chronically exposed to the mycotoxins deoxynivalenol (DON) and fumonisin B1 (FB1), as indicated by their widespread presence in foods and occasional exposure in the workplace. This exposure is confirmed by human biomonitoring (HBM) studies on (metabolites of) these mycotoxins in human matrices. We evaluated the exposure-health relationship of the mycotoxins in humans by reviewing the available literature. Read More