Results 61 to 70 of about 141,449 (304)

A case report of triple neural tube defect: revisiting the multisite closure theory

BMC Surgery, 2019
Background Triple neural tube defects are rare. To the author’s knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects.
Jayant Kumar Yadav, Ahtesham Khizar, Pradhumna Kumar Yadav, Ghulam Mustafa, Sajid Nazir Bhatti   +4 more
doaj   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Increased Blood Levels of NfL, GFAP, and Placental Growth Factor After Radiotherapy to the Brain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this study, we analyzed biomarkers of neuronal, glial, and vascular injury in longitudinal paired samples of blood and cerebrospinal fluid after prophylactic cranial irradiation in patients with small cell lung cancer. Neurofilament light chain protein (NfL) and glial fibrillary acidic protein (GFAP) increased in serum and cerebrospinal ...
Erik Fernström, Thomas Björk‐Eriksson, Pontus Erickson, Jan Nyman, Henrik Zetterberg, Marie Kalm   +5 more
wiley   +1 more source

Magnitude and Associated Factors of Neural Tube Defects in Ethiopia: A Systematic Review and Meta-Analysis

Global Pediatric Health, 2020
Neural tube defects remain a major problem in developing countries, but there are limited comprehensive national reports to date in Ethiopia. Therefore, this study aimed to assess the prevalence of neural tube defects and associated factors in Ethiopia ...
Zebenay Workneh Bitew MSc, MPH, Teshager Worku MSc, Anmut Alebel MSc, PhD, Ayinalem Alemu MSc, MPH, PhD   +3 more
doaj   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Tip60- and sirtuin 2-regulated MARCKS acetylation and phosphorylation are required for diabetic embryopathy

Nature Communications, 2019
Neural tube defects can arise from high glucose levels caused by maternal diabetes, and MARCKS is required for neural tube closure. Here, Yang et al. show that acetylation and phosphorylation of MARCKS in hyperglycemic conditions causes mitochondrial and
Penghua Yang, Cheng Xu, E. Albert Reece, Xi Chen, Jianxiang Zhong, Min Zhan, Deborah J. Stumpo, Perry J. Blackshear, Peixin Yang   +8 more
doaj   +1 more source

Fibronectin is a smart adhesive that both influences and responds to the mechanics of early spinal column development

eLife, 2020
An extracellular matrix of Fibronectin adheres the neural tube to the two flanking columns of paraxial mesoderm and is required for normal vertebrate development.
Emilie Guillon, Dipjyoti Das, Dörthe Jülich, Abdel-Rahman Hassan, Hannah Geller, Scott Holley   +5 more
doaj   +1 more source

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang, Yujie Liu, Fei Li, Xuelin Li, Lanlan Li, Jie Zhang, Yali Xu   +6 more
wiley   +1 more source

Hopfield Neural Networks for Online Constrained Parameter Estimation With Time‐Varying Dynamics and Disturbances

International Journal of Adaptive Control and Signal Processing, EarlyView.
This paper proposes two projector‐based Hopfield neural network (HNN) estimators for online, constrained parameter estimation under time‐varying data, additive disturbances, and slowly drifting physical parameters. The first is a constraint‐aware HNN that enforces linear equalities and inequalities (via slack neurons) and continuously tracks the ...
Miguel Pedro Silva
wiley   +1 more source