Results 41 to 50 of about 29,285 (251)

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Initial treatment approaches and healthcare utilization among veterans with low back pain: a propensity score analysis

BMC Health Services Research, 2023
Background Opioid prescriptions for Veterans with low back pain (LBP) persist despite the availability of PT, a lower medical risk treatment option. Patterns of treatment and subsequent healthcare utilization for Veterans with LBP are unknown.
Catherine Schmidt, Matthew Borgia, Tingting Zhang, Perman Gochyyev, Theresa I. Shireman, Linda Resnik   +5 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Smoking is associated with poorer quality-based outcomes in patients hospitalized with spinal disease

Frontiers in Surgery, 2015
Study design: Retrospective cross-sectional database analysisObjective: The cost of spine surgery is growing exponentially, and cost-effectiveness is a critical consideration. Smoking has been shown to increase hospital costs in general surgery, but this
Erica F Bisson, Christian A. Bowers, Samuel F. Hohmann, Meic H. Schmidt, MD, MBA   +3 more
doaj   +1 more source

Predicting and coding sound into action translation in spinal cord injured people

European Journal of Neuroscience, 2023
Abstract Motor activation in response to perception of action‐related stimuli may depend on a resonance mechanism subserving action understanding. The extent to which this mechanism is innate or learned from sensorimotor experience is still unclear. Here, we recorded EEG while people with paraplegia or tetraplegia consequent to spinal
Grisoni, Luigi, Piperno, Giulio, Moreau, Quentin, Molinari, Marco, Scivoletto, Giorgio, Aglioti, Salvatore Maria   +5 more
openaire   +2 more sources

The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp, Ludwig Karrasch, Helena Breitenstein, Andreas Straube, Katharina Kamm   +4 more
wiley   +1 more source

Perceptions, experiences, and beliefs regarding urinary tract infections in patients with neurogenic bladder: A qualitative study.

PLoS ONE, 2023
Although urinary tract infections (UTIs) are common in patients with neurogenic bladder (NB), limited data exist on UTI perceptions, experiences, and beliefs in these patients.
Margaret A Fitzpatrick, Pooja Solanki, Marissa Wirth, Frances M Weaver, Katie J Suda, Stephen P Burns, Nasia Safdar, Eileen Collins, Charlesnika T Evans   +8 more
doaj   +1 more source