In addition to the apical-basal polarity pathway operating in epithelial cells, a planar cell polarity (PCP) pathway establishes polarity within the plane of epithelial tissues and is conserved from Drosophila to mammals. In Drosophila, a 'core' group of PCP genes including frizzled (fz), flamingo/starry night, dishevelled (dsh), Van Gogh/strabismus and prickle, function to regulate wing hair, bristle and ommatidial polarity. In vertebrates, the PCP pathway regulates convergent extension movements and neural tube closure, as well as the orientation of stereociliary bundles of sensory hair cells in the inner ear. Here we show that a mutation in the mouse protein tyrosine kinase 7 (PTK7) gene, which encodes an evolutionarily conserved transmembrane protein with tyrosine kinase homology, disrupts neural tube closure and stereociliary bundle orientation, and shows genetic interactions with a mutation in the mouse Van Gogh homologue vangl2. We also show that PTK7 is dynamically localized during hair cell polarization, and that the Xenopus homologue of PTK7 is required for neural convergent extension and neural tube closure. These results identify PTK7 as a novel regulator of PCP in vertebrates.
Encephalocele is a congenital neural tube defect (NTD). The pathophysiology of the NTDs is exceedingly complex. Numerous explanations have been proposed to explain it.
Introduction: Spina bifida is a condition that impacts the development of the neural tube leading to urological and gastrointestinal symptoms. Both systems are influenced together due to their shared innervation and embryological origin. Despite its impact on health and well-being there has been limited research on the relationship between manometry results and urodynamic tests, in this patient population.
Patients with nasogastric (NG) tubes require careful monitoring due to the potential impact of the tube on their ability to swallow safely. This study aimed to investigate the utility of high-resolution cervical auscultation (HRCA) signals in assessing swallowing functionality of patients using feeding tubes. HRCA, capturing swallowing vibratory and acoustic signals, has been explored as a surrogate for videofluoroscopy image analysis in previous research.
Folic acid (FA) supplementation is widely regarded as a key nutritional intervention during pregnancy due to its protective effect against neural tube defects. Recent research has reported FA supplementation outcomes on offspring's health, with increased incidences of allergy/respiratory problems. This study evaluates if increased levels of 5-methyltetrahydrofolate (5-MTHF) are associated with DNA modification, leading to disruption of cell proliferation in fetal lung cells and increasing susceptibility to asthma.
Introduction: In 2015, the FDA released a Drug Safety Communication regarding a possible link between opioid exposure during early pregnancy and an increased risk of fetal neural tube defects (NTDs). At the time, the indications for opioid use during pregnancy were not changed due to incomplete maternal toxicity data and limitations in human and animal studies. To assess these knowledge gaps, largescale animal studies are ongoing; however, state-of-the-art technologies have emerged as promising tools to assess otherwise non-standard endpoints.
