Neuroscience

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

Hearing loss (HL) is the most common disability of human senses characterized by a great allelic heterogeneity. GJB2 and TMPRSS3 are two well-known HL genes typically underlying its monogenic form. Recently, TMPR...

Authors: Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło and Henryk Skarżyński

Adipose afferent reflex is enhanced by TNFα in paraventricular nucleus through NADPH oxidase-dependent ROS generation in obesity-related hypertensive rats

The adipose afferent reflex (AAR), a sympatho-excitatory reflex, can promote the elevation of sympathetic nerve activity (SNA) and blood pressure (BP). Inflammation in the paraventricular nucleus (PVN) involve...

Authors: Lei Ding, Ying Kang, Hang-Bing Dai, Fang-Zheng Wang, Hong Zhou, Qing Gao, Xiao-Qing Xiong, Feng Zhang, Tian-Run Song, Yan Yuan, Ming Liu, Guo-Qing Zhu and Ye-Bo Zhou

Proteomic profiling of plasma biomarkers in acute ischemic stroke due to large vessel occlusion

Acute ischemic stroke (AIS) due to large vessel occlusion (LVO) is a devastating cerebrovascular disorder, which could benefit from collateral circulation. Proteins associated with acute LVO pathogenesis and e...

Authors: Chuan Qin, Xin-Ling Zhao, Xiao-Tong Ma, Luo-Qi Zhou, Long-jun Wu, Ke Shang, Wei Wang and Dai-Shi Tian

Hemodynamic impacts of flow diverter devices on the ophthalmic artery

Flow diverter devices are increasingly used for endovascular treatment of internal carotid artery aneurysms. Treatment of ophthalmic segment aneurysms with flow diverter devices also includes coverage of the o...

Authors: Xinzhi Wu, Zhongbin Tian, Jian Liu, Wenqiang Li, Junfan Chen, Yangyang Zhou, Xinjian Yang and Shiqing Mu

Chronic abdominal vagus stimulation increased brain metabolic connectivity, reduced striatal dopamine transporter and increased mid-brain serotonin transporter in obese miniature pigs

Changes in brain metabolism has been investigated thoroughly during unilateral cervical chronic vagal stimulation in epileptic or depressive patients. Bilateral stimulation of the abdominal vagus (_aVNS) has recei...

Authors: Charles-Henri Malbert, Mickael Genissel, Jean-Louis Divoux and Christine Henry

Pediatric sleep disturbances and treatment with melatonin

There are no guidelines concerning the best approach to improving sleep, but it has been shown that it can benefit the affected children and their entire families. The aim of this review is to analyse the effi...

Authors: Susanna Esposito, Daniela Laino, Renato D’Alonzo, Annalisa Mencarelli, Lorenza Di Genova, Antonella Fattorusso, Alberto Argentiero and Elisabetta Mencaroni

Identification of a multidimensional transcriptome signature for survival prediction of postoperative glioblastoma multiforme patients

Glioblastoma multiform (GBM) is a devastating brain tumor with maximum surgical resection, radiotherapy plus concomitant and adjuvant temozolomide (TMZ) as the standard treatment. Diverse clinicopathological a...

Authors: Wei-Zhen Gao, Lie-Mei Guo, Tian-Qi Xu, Yu-Hua Yin and Feng Jia

Gut microbiota dysbiosis in male patients with chronic traumatic complete spinal cord injury

Neurogenic bowel dysfunction (NBD) is a major physical and psychological problem in patients with spinal cord injury (SCI), and gut dysbiosis is commonly occurs in SCI. Here, we document neurogenic bowel manag...

Authors: Chao Zhang, Wenhao Zhang, Jie Zhang, Yingli Jing, Mingliang Yang, Liangjie Du, Feng Gao, Huiming Gong, Liang Chen, Jun Li, Hongwei Liu, Chuan Qin, Yanmei Jia, Jiali Qiao, Bo Wei, Yan Yu…

Increased circulating endothelial progenitor cells and improved short-term outcomes in acute non-cardioembolic stroke after hyperbaric oxygen therapy

Acute ischemic stroke is a leading cause of mortality and long-term disability, and profiles of endothelial progenitor cells (EPCs) reflect the degree of endothelial impairment. This study tested the hypothesi...

Authors: Chen-Yu Chen, Re-Wen Wu, Nai-Wen Tsai, Mel S. Lee, Wei-Che Lin, Mei-Chi Hsu, Chih-Cheng Huang, Yun-Ru Lai, Chia-Te Kung, Hung-Chen Wang, Yu-Jih Su, Chih-Min Su, Sheng-Yuan Hsiao, Ben-Chung Cheng, Yi-Fang Chiang and Cheng-Hsien Lu

The dimensionality of fatigue in Parkinson’s disease

Fatigue is a common problem among individuals with Parkinson’s disease (PD). It may occur before the overt symptoms of bradykinesia, rigidity and tremor. Little is understood about how to measure fatigue in PD...

Authors: Raymond Chong, Lauren Albor, Chandramohan Wakade and John Morgan

Multimodal characterization of the semantic N400 response within a rapid evaluation brain vital sign framework

For nearly four decades, the N400 has been an important brainwave marker of semantic processing. It can be recorded non-invasively from the scalp using electrical and/or magnetic sensors, but largely within th...

Authors: Sujoy Ghosh Hajra, Careesa C. Liu, Xiaowei Song, Shaun D. Fickling, Teresa P. L. Cheung and Ryan C. N. D’Arcy

Adolescent mental health education InSciEd Out: a case study of an alternative middle school population

Mental illness contributes substantially to global disease burden, particularly when illness onset occurs during youth and help-seeking is delayed and/or limited. Yet, few mental health promotion interventions...

Authors: Joanna Yang, Roberto Lopez Cervera, Susannah J. Tye, Stephen C. Ekker and Chris Pierret

Facial nerve stimulation in normal pigs and healthy human volunteers: transitional development of a medical device for the emergency treatment of ischemic stroke

Magnetic stimulation of the facial nerve has been tested in preclinical studies as a new, non-invasive emergency treatment of ischemic stroke that acts by increasing cerebral blood flow (CBF). The objective of...

Authors: Olivia Sanchez, Andrea García, Fernando Castro-Prado, Miriam Perez, Rafael Lara-Estrada, Martin Ramirez-Meza, Montserrat Godinez, Michael L. Coco, Joaquín Azpiroz, Mark K. Borsody and Emilio Sacristán

Hepcidin, an emerging and important player in brain iron homeostasis

Hepcidin is emerging as a new important factor in brain iron homeostasis. Studies suggest that there are two sources of hepcidin in the brain; one is local and the other comes from the circulation. Little is k...

Authors: Driton Vela

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations...

Authors: Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski and Henryk Skarżyński

Sodium ferulate and n-butylidenephthalate combined with bone marrow stromal cells (BMSCs) improve the therapeutic effects of angiogenesis and neurogenesis after rat focal cerebral ischemia

Studies have indicated that bone marrow stromal cell (BMSC) administration is a promising approach for stroke treatment. For our study, we chose sodium ferulate (SF) and n-butylidenephthalide (BP) combined with B...

Authors: Qian Zhang, Yonghua Zhao, Youhua Xu, Zhenwei Chen, Naiwei Liu, Chienchih Ke, Bowen Liu and Weikang Wu

Longitudinal brain structural alterations and systemic inflammation in obstructive sleep apnea before and after surgical treatment

Systemic inflammation, neurocognitive impairments, and morphologic brain changes are associated with obstructive sleep apnea (OSA). Understanding their longitudinal evolution and interactions after surgical tr...

Authors: Wei-Che Lin, Chih-Cheng Huang, Hsiu-Ling Chen, Kun-Hsien Chou, Pei-Chin Chen, Nai-Wen Tsai, Meng-Hsiang Chen, Michael Friedman, Hsin-Ching Lin and Cheng-Hsien Lu

Effects of vagus nerve stimulation on cognitive functioning in rats with cerebral ischemia reperfusion

Vagus nerve stimulation (VNS) has become the most common non-pharmacological treatment for intractable drug-resistant epilepsy. However, the contribution of VNS to neurological rehabilitation following stroke ...

Authors: Ai-fen Liu, Feng-bo Zhao, Jing Wang, Yi-Fan Lu, Jian Tian, Yin Zhao, Yan Gao, Xia-jun Hu, Xiao-yan Liu, Jie Tan, Yun-li Tian and Jing Shi

Betel quid dependence is associated with functional connectivity changes of the anterior cingulate cortex: a resting-state fMRI study

It is generally acknowledged that drug dependence is connected with abnormal functional organization in the individual’s brain. The present study aimed to identify the anterior cingulate cortex (ACC) abnormali...

Authors: Tao Liu, Jianjun Li, Zhongyan Zhao, Yuan Zhong, Zhiqiang Zhang, Qiang Xu, Guoshuai Yang, Guangming Lu, Suyue Pan and Feng Chen

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss

Autosomal recessive non-syndromic hearing loss (ARNSHL) is highly heterogeneous, and mutations in the gene encoding transmembrane channel-like 1 (TMC1) have been implicated in its development. To date, 35 homo...

Authors: Jiongjiong Hu, Fei Liu, Wenjun Xia, Lili Hao, Jun Lan, Zhenghua Zhu, Jing Ye, Duan Ma and Zhaoxin Ma

NGF eye-drops topical administration in patients with retinitis pigmentosa, a pilot study

Preclinical trials have shown beneficial effects of nerve growth factor (NGF) administration on visual function in animal models of retinitis pigmentosa (RP). The aim of this pilot study was to explore the po...

Authors: Benedetto Falsini, Giancarlo Iarossi, Antonio Chiaretti, Antonio Ruggiero, Luigi Manni, Lucia Galli-Resta, Giovanni Corbo and Edoardo Abed

Brain mediators of systemic oxidative stress on perceptual impairments in Parkinson’s disease

Parkinson’s disease (PD) is well documented to be associated with elevated systemic oxidative stress and perceptual impairments. Furthermore, the striatum and extrastriatal cortical areas, which are involved i...

Authors: Wei-Che Lin, Kun-Hsien Chou, Pei-Lin Lee, Yung-Cheng Huang, Nai-Wen Tsai, Hsiu-Ling Chen, Kuei-Yueh Cheng, Hung-Chen Wang, Tsu-Kung Lin, Shau-Hsuan Li, Meng-Hsiang Chen, Cheng-Hsien Lu and Ching-Po Lin

Autophagy biomarkers in CSF correlates with infarct size, clinical severity and neurological outcome in AIS patients

Autophagy is demonstrated to be involved in acute ischemic stroke(AIS), which, however, is confined to cells and/or animals levels. The aim of this study was to determine two autophagy biomarkers, Beclin1 and ...

Authors: Honghong Li, Shuwei Qiu, Xiangpen Li, Mei Li and Ying Peng

Development of patient-derived xenograft models from a spontaneously immortal low-grade meningioma cell line, KCI-MENG1

There is a paucity of effective therapies for recurrent/aggressive meningiomas. Establishment of improved in vitro and in vivo meningioma models will facilitate development and testing of novel therapeutic app...

Authors: Sharon K Michelhaugh, Anthony R Guastella, Kaushik Varadarajan, Neil V Klinger, Prahlad Parajuli, Aamir Ahmad, Seema Sethi, Amro Aboukameel, Sam Kiousis, Ian M Zitron, Salah A Ebrahim, Lisa A Polin, Fazlul H Sarkar, Aliccia Bollig-Fischer and Sandeep Mittal

Severe disturbance of glucose metabolism in peripheral blood mononuclear cells of schizophrenia patients: a targeted metabolomic study

Schizophrenia is a widespread and debilitating mental disorder. However, the underlying molecular mechanism of schizophrenia remains largely unknown and no objective laboratory tests are available to diagnose ...

Authors: Mei-Ling Liu, Xiao-Tong Zhang, Xiang-Yu Du, Zheng Fang, Zhao Liu, Yi Xu, Peng Zheng, Xue-Jiao Xu, Peng-Fei Cheng, Ting Huang, Shun-Jie Bai, Li-Bo Zhao, Zhi-Guo Qi, Wei-Hua Shao and Peng Xie

Differential hypoglycaemic, anorectic, autonomic and emetic effects of the glucagon-like peptide receptor agonist, exendin-4, in the conscious telemetered ferret

Rodents are incapable of emesis and consequently the emetic potential of glucagon-like peptide-1 receptor (GLP-1R) agonists in studies designed to assess a potential blood glucose lowering action of the compou...

Authors: Zengbing Lu, Nathalie Percie Du Sert, Sze Wa Chan, Chi-Kong Yeung, Ge Lin, David TW Yew, Paul LR Andrews and John A Rudd

Growth factor-eluting cochlear implant electrode: impact on residual auditory function, insertional trauma, and fibrosis

A cochlear implant (CI) is an artificial hearing device that can replace a damaged cochlea. The present study examined the use of growth factor-eluting gelatin hydrogel coatings on the electrodes to minimize i...

Authors: Yayoi S Kikkawa, Takayuki Nakagawa, Lin Ying, Yasuhiko Tabata, Hirohito Tsubouchi, Akio Ido and Juichi Ito

Biochemical and inflammatory biomarkers in ischemic stroke: translational study between humans and two experimental rat models

our objective was to examine the plasma levels of three biological markers involved in cerebral ischemia (IL-6, glutamate and TNF-alpha) in stroke patients and compare them with two different rat models of foc...

Authors: Patricia Martínez-Sánchez, María Gutiérrez-Fernández, Blanca Fuentes, Jaime Masjuán, María Alonso de Leciñana Cases, Maria Elena Novillo-López and Exuperio Díez-Tejedor

Existence of a potential neurogenic system in the adult human brain

Prevailingly, adult mammalian neurogenesis is thought to occur in discrete, separate locations known as neurogenic niches that are best characterized in the subgranular zone (SGZ) of the dentate gyrus and in t...

Authors: Adriano Barreto Nogueira, Mari Cleide Sogayar, Alison Colquhoun, Sheila Aparecida Siqueira, Ariel Barreto Nogueira, Paulo Eurípedes Marchiori and Manoel Jacobsen Teixeira

Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum

Racial and regional factors are important for the clinical diagnosis of non-syndromic hearing impairment. Comprehensive genetic analysis of deaf patients in different regions of China must be performed to prov...

Authors: Kaitian Chen, Ling Zong, Min Liu, Xianren Wang, Wei Zhou, Yuan Zhan, Hui Cao, Chang Dong, Haocheng Tang and Hongyan Jiang

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most p...

Authors: Xue Gao, Qing-yan Zhu, Yue-Shuai Song, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Li-ping Guan, Jian-guo Zhang and Pu Dai

MiRNA-329 targeting E2F1 inhibits cell proliferation in glioma cells

MicroRNAs have recently emerged as key regulators of cancers, miR-329 located on 14q32.31 is one of down-regulated miRNAs in glioma, but the function and molecular mechanisms of miR-329 in determining the mali...

Authors: Bingxiang Xiao, Li Tan, Benfu He, Zhiliang Liu and Ruxiang Xu

Neuromimetic model of saccades for localizing deficits in an atypical eye-movement pathology

When patients with ocular motor deficits come to the clinic, in numerous situations it is hard to relate their behavior to one or several deficient neural structures. We sought to demonstrate that neuromimetic...

Authors: Pierre M Daye, Lance M Optican, Emmanuel Roze, Bertrand Gaymard and Pierre Pouget

Evaluating glymphatic pathway function utilizing clinically relevant intrathecal infusion of CSF tracer

Neurodegenerative diseases such as Alzheimer’s are associated with the aggregation of endogenous peptides and proteins that contribute to neuronal dysfunction and loss. The glymphatic system, a brain-wide peri...

Authors: Lijun Yang, Benjamin T Kress, Harris J Weber, Meenakshisundaram Thiyagarajan, Baozhi Wang, Rashid Deane, Helene Benveniste, Jeffrey J Iliff and Maiken Nedergaard

Activation of axonal Kv7 channels in human peripheral nerve by flupirtine but not placebo - therapeutic potential for peripheral neuropathies: results of a randomised controlled trial

Flupirtine is an analgesic with muscle-relaxing properties that activates Kv7 potassium channels. Kv7 channels are expressed along myelinated and unmyelinated peripheral axons where their activation is expecte...

Authors: Johannes Fleckenstein, Ruth Sittl, Beate Averbeck, Philip M Lang, Dominik Irnich and Richard W Carr

Nerve growth factor: from the early discoveries to the potential clinical use

The physiological role of the neurotrophin nerve growth factor (NGF) has been characterized, since its discovery in the 1950s, first in the sensory and autonomic nervous system, then in central nervous, endocr...

Authors: Luigi Aloe, Maria Luisa Rocco, Patrizia Bianchi and Luigi Manni

Alzheimer's disease biomarker discovery using in silico literature mining and clinical validation

Alzheimer’s Disease (AD) is the most widespread form of dementia in the elderly but despite progress made in recent years towards a mechanistic understanding, there is still an urgent need for disease modifica...

Authors: Ines Greco, Nicola Day, Joanna Riddoch-Contreras, Jane Reed, Hilkka Soininen, Iwona Kłoszewska, Magda Tsolaki, Bruno Vellas, Christian Spenger, Patrizia Mecocci, Lars-Olof Wahlund, Andrew Simmons, Julie Barnes and Simon Lovestone

Standards and pitfalls of focal ischemia models in spontaneously hypertensive rats: With a systematic review of recent articles

We reviewed the early development of various focal ischemia models in spontaneously hypertensive rats (SHR), and summarized recent reports on this topic. Among 6 focal ischemia models established in divergent ...

Authors: Hiroshi Yao and Toru Nabika

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender biased and incomplete penetrance. The majority of LHON patients are caused by one of the three primary mutations (m.3460G > A, m...

Authors: A-Mei Zhang, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang and Yong-Gang Yao

Cellular therapies for treating pain associated with spinal cord injury

Spinal cord injury leads to immense disability and loss of quality of life in human with no satisfactory clinical cure. Cell-based or cell-related therapies have emerged as promising therapeutic potentials bot...

Authors: Lawrence Leung

MGMT promoter methylation in gliomas-assessment by pyrosequencing and quantitative methylation-specific PCR

Methylation of the O⁶-methylguanine-DNA methyltransferase (MGMT) gene promoter is a favorable prognostic factor in glioblastoma patients. However, reported methylation frequencies vary significantly partly due to...

Authors: Annette Bentsen Håvik, Petter Brandal, Hilde Honne, Hanne-Sofie Spenning Dahlback, David Scheie, Merete Hektoen, Torstein Ragnar Meling, Eirik Helseth, Sverre Heim, Ragnhild A Lothe and Guro Elisabeth Lind

Identification and proteomic profiling of exosomes in human cerebrospinal fluid

Exosomes are released from multiple cell types, contain protein and RNA species, and have been exploited as a novel reservoir for disease biomarker discovery. They can transfer information between cells and ma...

Authors: Jonathan M Street, Perdita E Barran, C Logan Mackay, Stefan Weidt, Craig Balmforth, Tim S Walsh, Rod TA Chalmers, David J Webb and James W Dear

MicroRNA modulation in complex regional pain syndrome

Aberrant expression of small noncoding RNAs called microRNAs (miRNAs) is a common feature of several human diseases. The objective of the study was to identify miRNA modulation in patients with complex regiona...

Authors: Irina A Orlova, Guillermo M Alexander, Rehman A Qureshi, Ahmet Sacan, Alessandro Graziano, James E Barrett, Robert J Schwartzman and Seena K Ajit

Introducing the neurosciences section of the journal of translational medicine

Authors: Luis F Alguacil