Neural tube

Organoids have emerged as robust tools for unravelling the mechanisms that underly tissue development. They also serve as important in vitro systems for studying fundamentals of stem cell behavior and for building advanced disease models. During early development, a crucial step in the formation of the central nervous system is patterning of the neural tube dorsal-ventral (DV) axis. Here we describe a simple and rapid culture protocol to produce human neuroepithelial (NE) cysts and DV-patterned organoids from single human-induced pluripotent stem cells (hiPSCs)...

Introduction Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 hours of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC. Methods We performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995-2021) and surgical logs...

Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spinous process. Myelomeningocele of post-natal tissue is well described; however, pre-natal tissue of this defect has no known previous histologic characterization. We compared the histology of different forms of pre-natal myelomeningocele and post-natal myelomeningocele tissue obtained via prenatal intrauterine and postnatal surgical repairs...

Neurodevelopment, a complex and highly regulated process, plays a foundational role in shaping the structure and function of the nervous system. The transient receptor potential melastatin 7 (TRPM7), a divalent cation channel with an α-kinase domain, mediates a wide range of cellular functions, including proliferation, migration, cell adhesion, and survival, all of which are essential processes in neurodevelopment. The global knockout of either TRPM7 or TRPM7-kinase is embryonically lethal, highlighting the crucial role of TRPM7 in development in vivo...

Regulation of nucleotide biosynthesis is necessary for maintaining cellular processes including DNA replication and repair. A key enzyme in this process is deoxythymidylate kinase (dTYMK), which catalyzes the initial step in the production of dTTP from dTMP. This gene constitutes the first merged step of dTTP synthesis from the de novo and salvage pathways which regulate dTMP biosynthesis. Decreased de novo dTMP biosynthesis causes dysregulated dTTP:dUTP pools, and leads to increased uracil in DNA and neural tube closure defect (NTD) development in mice...

BACKGROUND: Direct potable reuse (DPR) involves adding purified wastewater that has not passed through an environmental buffer into a water distribution system. DPR may help address water shortages and is approved or is under consideration as a source of drinking water for several water-stressed population centers in the United States, however, there are no studies of health outcomes in populations who receive DPR drinking water. Our objective was to determine whether the introduction of DPR for certain public water systems in Texas was associated with changes in birth defect prevalence...

UNLABELLED: As cross-disciplinary approaches drawing from physics and mechanics have increasingly influenced our understanding of morphogenesis, the tools available to measure and perturb physical aspects of embryonic development have expanded as well. However, it remains a challenge to measure mechanical properties and apply exogenous tissue-scale forces in vivo , particularly for epithelia. Exploiting the size and accessibility of the developing chick embryo, here we describe a simple technique to quantitatively apply exogenous forces on the order of ∼1-100 µ N to the endodermal epithelium...

BACKGROUND: Osteoporosis, a disease stemming from bone metabolism irregularities, affects approximately 200 million people worldwide. Timely detection of osteoporosis is pivotal in grappling with this public health challenge. Deep learning (DL), emerging as a promising methodology in the field of medical imaging, holds considerable potential for the assessment of bone mineral density (BMD). This study aimed to propose an automated DL framework for BMD assessment that integrates localization, segmentation, and ternary classification using various dominant convolutional neural networks (CNNs)...

BACKGROUND: Management of neural tube defects (NTDs) is challenging and the outcome is demanding. AIMS: To analyze the outcomes in operated cases of NTDs closed using various types of flaps. MATERIALS AND METHODS: The data between June 2017 and May 2023 were analyzed. The mode of presentation, timing of intervention, type of flap, neurological status after closure, status of the wound, presence of hydrocephalous, flap blackening, flap necrosis, features of sepsis, and the outcome were recorded and analyzed...

Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient's maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy...

Concrete-filled steel tube columns (CFSTCs) are important elements in the construction sector and predictive analysis of their behavior is essential. Recent works have revealed the potential of metaheuristic-assisted approximators for this purpose. The main idea of this paper, therefore, is to introduce a novel integrative model for appraising the axial compression capacity (Pu ) of CFSTCs. The proposed model represents an artificial neural network (ANN) supervised by satin bowerbird optimizer (SBO). In other words, this metaheuristic algorithm trains the ANN optimally to find the best contribution of input parameters to the Pu ...

Radiation-based gauges have been widely utilized in the industry as a dependable, non-destructive method of measuring metal layer thickness. It is only possible to trust the conventional radiation thickness meter when the material's composition is known in advance. Thickness measurement errors are to be anticipated in contexts like rolled metal factories, where the real component of the material could diverge greatly from the stated composition. An X-ray-based device was suggested in this study to measure aluminum sheet thickness and identify the type of its alloys...

UNLABELLED: Nonketotic hyperglycinemia due to deficient glycine cleavage enzyme activity causes a severe neonatal epileptic encephalopathy. Current therapies based on mitigating glycine excess have only limited impact. An animal model with postnatal phenotyping is needed to explore new therapeutic approaches. We developed a Gldc p.Ala394Val mutant model and bred it to congenic status in 2 colonies on C57Bl/6J (B6) and J129X1/SvJ (J129) backgrounds. Mutant mice had reduced P-protein and enzyme activity indicating a hypomorphic mutant...

An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound-detected encephalocele carried compound heterozygous variants in B3GALNT2 NM_152490.5:c.[1423C > T (p.Gln475Ter)]; [261-2A > G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in B3GALNT2 , a well-known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of B3GALNT2 -related disorders...

INTRODUCTION: Neural tube defects (NTDs) represent a spectrum of heterogeneous birth anomalies characterized by the incomplete closure of the neural tube. In Jordan, NTDs are estimated to occur in approximately one out of every 1000 live births. Timely identification of NTDs during the 18-22 weeks of gestation period offers parents various management options, including intrauterine NTD repair and termination of pregnancy (TOP). This study aims to assess and compare parental knowledge and perceptions of these management modalities between parents of affected children and those with healthy offspring...

BACKGROUND: Folic acid, a water-soluble B-complex vitamin, plays a crucial role in DNA synthesis and maintenance, making it particularly significant during reproduction. Its well-known ability to reduce the risk of congenital anomalies during the periconceptional period underscores its importance. The increased requirement for folate during pregnancy and lactation is essential to support the physiological changes of the mother and ensure optimal growth and development of the foetus and offspring...

In a developing embryo, formation of tissues and organs is remarkably precise in both time and space. Through cell-cell interactions, neighboring progenitors coordinate their activities, sequentially generating distinct types of cells. At present, we only have limited knowledge, rather than a systematic understanding, of the underlying logic and mechanisms responsible for cell fate transitions. The formation of the dorsal aspect of the spinal cord is an outstanding model to tackle these dynamics, as it first generates the peripheral nervous system and is later responsible for transmitting sensory information from the periphery to the brain and for coordinating local reflexes...

Volatile organic compounds (VOCs) indicative of pork microbial spoilage can be quantified rapidly at trace levels using selected-ion flow-tube mass spectrometry (SIFT-MS). Packaging atmosphere is one of the factors influencing VOC production patterns during storage. On this basis, machine learning would help to process complex volatolomic data and predict pork microbial quality efficiently. This study focused on (1) investigating model generalizability based on different nested cross-validation settings, and (2) comparing the predictive power and feature importance of nine algorithms, including Artificial Neural Network (ANN), k-Nearest Neighbors, Support Vector Regression, Decision Tree, Partial Least Squares Regression, and four ensemble learning models...

The hindbrain, which develops from the anterior end of the neural tube expansion, can differentiate into the metencephalon and myelencephalon, with varying sizes and functions. The midbrain-hindbrain boundary (MHB) and hindbrain myelencephalon/ventral midline (HMVM) are known to be the source of the progenitors for the anterior hindbrain and myelencephalon, respectively. However, the molecular networks regulating hindbrain morphogenesis in these structures remain unclear. In this study, we show that rb1 is highly expressed at the MHB and HMVM in zebrafish...

BACKGROUND: Abdominal wall defects (AWDs), such as gastroschisis and omphalocele, and neural tube defects (NTDs) such as open spina bifida (SB) are common congenital anomalies. These anomalies are considered a leading cause of neonatal mortality and have been advocated as bellwether conditions to measure access to surgical care. METHODS: Newborns with open SB or AWD presenting to the nursery at Queen Nandi Regional Hospital over four years (2018-2021) were retrospectively identified...