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Sensory neuropathy

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https://www.readbyqxmd.com/read/28091556/vegf-b-promotes-recovery-of-corneal-innervations-and-trophic-functions-in-diabetic-mice
#1
Guohu Di, Xiaowen Zhao, Xia Qi, Songmei Zhang, Lu Feng, Weiyun Shi, Qingjun Zhou
Vascular endothelial growth factor (VEGF)-B possesses the capacity of promoting injured peripheral nerve regeneration and restore their sensory and trophic functions. However, the contribution and mechanism of VEGF-B in diabetic peripheral neuropathy remains unclear. In the present study, we investigated the expression and role of VEGF-B in diabetic corneal neuropathy by using type 1 diabetic mice and cultured trigeminal ganglion (TG) neurons. Hyperglycemia attenuated the endogenous expression of VEGF-B in regenerated diabetic corneal epithelium, but not that of VEGF receptors in diabetic TG neurons and axons...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#2
Suzan L Harris, Marcin Kazmierczak, Tina Pangršič, Prahar Shah, Nadiya Chuchvara, Alonso Barrantes-Freer, Tobias Moser, Martin Schwander
Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival...
January 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#3
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28074305/clinical-effectiveness-of-low-level-laser-treatment-on-peripheral-somatosensory-neuropathy
#4
REVIEW
Alireza Fallah, Alireza Mirzaei, Norbert Gutknecht, Amir Saberi Demneh
Peripheral sensory neuropathy treatment is one of the common treatment problems and causes morbidity and mortality in people suffering from that. Although treatment depends on the underlying cause of the condition, nevertheless, in some cases, there is no cure for it, and it requires palliative and symptomatic treatment. In laboratory studies, low-level laser has been effective in the nerves protection and restoration. The aim of this article is to investigate the clinical efficacy of low-level laser on improvement of the peripheral somatosensory neuropathy...
January 10, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#5
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#6
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28061451/nanoparticle-albumin-bound-paclitaxel-as-neoadjuvant-chemotherapy-of-breast-cancer-a-systematic-review-and-meta-analysis
#7
REVIEW
Yu Zong, Jiayi Wu, Kunwei Shen
BACKGROUND: The value of nanoparticle albumin-bound paclitaxel (nab-paclitaxel) in neoadjuvant systemic therapy for breast cancer remains uncertain. METHODS: Both electronic databases and proceedings of oncologic meetings were included in systematic literature search. Pooled rates of pathological complete response (pCR), odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using fixed-effect or random-effect model to determine the effect of neoadjuvant nab-paclitaxel...
January 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28051077/fig4-variants-in-central-european-patients-with-amyotrophic-lateral-sclerosis-a-whole-exome-and-targeted-sequencing-study
#8
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant inheritance and incomplete penetrance. Additionally, 200 central European ALS patients were analyzed using whole-exome or targeted sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28050358/to-study-brain-stem-auditory-evoked-potential-in-patients-with-type-2-diabetes-mellitus-a-cross-sectional-comparative-study
#9
Mishra Indira Sushil, J N Muneshwar, Sayeeda Afroz
INTRODUCTION: Neuropathy is one of the commonest complications of Diabetes Mellitus (DM). Apart from having peripheral and autonomic neuropathy patients with type 2 DM may also suffer from sensory neural hearing loss, which is more severe at higher frequencies. However, few studies have done detailed evaluation of sensory pathway in these patients. In this study brain stem auditory evoked potential is used to detect the acoustic and central neuropathy in a group of patients with type 2 DM with controlled and uncontrolled blood sugar...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28041759/numb-chin-syndrome-a-harbinger-of-tumor-progression-or-relapse
#10
Namasivayam Balamurugan, S V Arathisenthil, Subramanian Senthilkumaran, Ponniah Thirumalaikolundusubramanian
Numb chin syndrome (NCS) is a rare yet potentially ominous sensory neuropathy in the distribution of the mental or inferior alveolar nerve characterized by unilateral hypoesthesia over the lower lip, chin and occasionally gingival mucosa. Recognizing NCS is clinically important as this may be a subtle sign of occult malignancy progression or heralding the relapses. It may also occur in benign disease, both systemic and dental in origin. Current expert opinion is that patients with NCS without apparent cause should be assumed to have a malignant etiology until proven otherwise Lossos and Siegal (1992) [1]...
December 1, 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28040425/safety-and-efficacy-of-folfirinox-in-elderly-patients-with-metastatic-or-locally-advanced-pancreatic-adenocarcinoma-a-retrospective-analysis
#11
C Baldini, A Escande, O Bouché, F El Hajbi, J Volet, V Bourgeois, T Renaut Vantroys, A Ploquin, C Desauw, M Hebbar
BACKGROUND: FOLFIRINOX is a polychemotherapy regimen currently used to treat inoperable pancreatic cancer in patients with a good performance status (PS). FOLFIRINOX lengthens overall survival time (OS), but no specific data are available in elderly patients. METHODS: All cases of inoperable pancreatic adenocarcinoma in patients over 70 years old treated with FOLFIRINOX were retrospectively reviewed between 2008 and 2015 in five institutions in France. The primary objective was to evaluate the safety and efficacy of FOLFIRINOX in the elderly...
December 24, 2016: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/28033318/a-point-mutation-in-a-lincrna-upstream-of-gdnf-is-associated-to-a-canine-insensitivity-to-pain-a-spontaneous-model-for-human-sensory-neuropathies
#12
Jocelyn Plassais, Laetitia Lagoutte, Solenne Correard, Manon Paradis, Eric Guaguère, Benoit Hédan, Alix Pommier, Nadine Botherel, Marie-Christine Cadiergues, Philippe Pilorge, David Silversides, Maud Bizot, Mark Samuels, Carme Arnan, Rory Johnson, Christophe Hitte, Gilles Salbert, Agnès Méreau, Pascale Quignon, Thomas Derrien, Catherine André
Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies. Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact. Through a Genome Wide Association Study (GWAS) with 24 affected and 30 unaffected sporting dogs using the Canine HD 170K SNP array (Illumina), we identified a 1...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28031222/the-chemokine-cxcl12-mediates-the-anti-amyloidogenic-action-of-painless-human-nerve-growth-factor
#13
Simona Capsoni, Francesca Malerba, Nicola Maria Carucci, Caterina Rizzi, Chiara Criscuolo, Nicola Origlia, Mariantonietta Calvello, Alessandro Viegi, Giovanni Meli, Antonino Cattaneo
Nerve growth factor is a therapeutic candidate for Alzheimer's disease. Due to its pain-inducing activity, in current clinical trials nerve growth factor is delivered locally into the brain by neurosurgery, but data on the efficacy of local nerve growth factor delivery in decreasing amyloid-β deposition are not available. To reduce the nerve growth factor pain-inducing side effects, thus avoiding the need for local brain injection, we developed human painless nerve growth factor (hNGFp), inspired by the human genetic disease hereditary sensory and autonomic neuropathy type V...
January 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28031030/outcome-after-protected-full-weightbearing-treatment-in-an-orthopedic-device-in-diabetic-neuropathic-arthropathy-charcot-arthropathy-a-comparison-of-unilaterally-and-bilaterally-affected-patients
#14
Niklas Renner, Stephan Hermann Wirth, Georg Osterhoff, Thomas Böni, Martin Berli
BACKGROUND: Charcot neuropathic arthropathy (CN) is a chronic, progressive, destructive, non-infectious process that most frequently affects the bone architecture of the foot in patients with sensory neuropathy. We evaluated the outcome of protected weightbearing treatment of CN in unilaterally and bilaterally affected patients and secondarily compared outcomes in protected versus unprotected weightbearing treatment. METHODS: Patient records and radiographs from 2002 to 2012 were retrospectively analyzed...
December 29, 2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28030472/epigenetic-divergence-in-the-trpa1-promoter-correlates-with-pressure-pain-thresholds-in-healthy-individuals
#15
Sara Gombert, Mathias Rhein, Mirjam Eberhardt, Tino Münster, Stefan Bleich, Andreas Leffler, Helge Frieling
The expression pattern of important transduction molecules in nociceptive sensory neurons is likely to dictate pain sensitivity. While this notion is well established for increased pain sensitivities under conditions like inflammation and neuropathy, less is known as to which molecules are defining interindividual differences in pain sensitivity in healthy subjects. A genome-wide methylation analysis on monozygotic twins found that methylation of a CpG dinucleotide in the promoter of transient receptor potential ankyrin 1 (TRPA1) is inversely associated with the threshold for heat-induced pain...
December 22, 2016: Pain
https://www.readbyqxmd.com/read/28025409/a-case-of-acute-autonomic-and-sensory-neuropathy-aasn-with-antibody-against-a-mixture-of-galactocerebroside-and-phospholipids
#16
Teruyuki Ishikura, Kazushiro Takata, Makoto Kinoshita, Kei Fukada, Jinichi Sawada, Takanori Hazama
A 62-year-old woman presented with paresthesia of limbs, gait disturbance, urinary retention and constipation following upper respiratory infection. Neurological examination revealed gait disturbance due to loss of position sense in her extremities with intact muscle power, and autonomic failure represented by orthostatic hypotension, constipation and autonomic bladder. Cerebrospinal fluid analysis showed normal cell counts with elevated protein levels. Nerve conduction study showed sensory nerve impairment with almost normal motor nerve conduction in her upper and lower extremities...
December 23, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28025370/prognosis-after-surgical-treatment-of-trigeminal-neuropathy-with-a-pga-c-tube-report-of-10-cases
#17
Kenji Seo, Makoto Terumitsu, Yuji Inada, Tatsuo Nakamura, Keiji Shigeno, Yutaka Tanaka
OBJECTIVE: Although surgery using a polyglycolic acid-collagen (PGA-c) tube is effective for peripheral nerve injury-induced chronic hand pain, it has not been applied to trigeminal nerve lesions because of the difficult approach. We used a PGA-c tube during surgery for trigeminal neuropathy and evaluated its prognosis based on the outcomes. DESIGN: Case report. SETTING AND PATIENTS: In the dental anesthesia division of a university hospital, 11 patients with severe dysesthesia underwent surgical repair of a damaged lingual nerve (LN) or inferior alveolar nerve (IAN)...
December 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28025096/early-vs-late-intervention-of-high-fat-low-dose-streptozotocin-treated-c57bl-6j-mice-with-enalapril-%C3%AE-lipoic-acid-menhaden-oil-or-their-combination-effect-on-diabetic-neuropathy-related-endpoints
#18
Matthew S Yorek, Alexander Obrosov, Hanna Shevalye, Lawrence J Coppey, Randy H Kardon, Mark A Yorek
We have previously demonstrated that enalapril, α-lipoic acid and menhaden (fish) oil has potential as a treatment for diabetic peripheral neuropathy. In this study we sought to determine the efficacy of these treatments individually or in combination on multiple neuropathic endpoints in a high fat fed low dose streptozotocin treated mouse, a model of type 2 diabetes, following early or late intervention. Four or twelve weeks after the onset of hyperglycemia, diabetic mice were treated with enalapril, α-lipoic acid, menhaden oil or their combination for 12 weeks...
December 23, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/28018906/chaperonopathies-spotlight-on-hereditary-motor-neuropathies
#19
REVIEW
Vincenzo Lupo, Carmen Aguado, Erwin Knecht, Carmen Espinós
Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases...
2016: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28017218/clinical-characteristics-and-impairment-and-disability-scale-scores-for-different-cidp-disease-activity-status-classes
#20
Majed Alabdali, Alon Abraham, Abdulla Alsulaiman, Ari Breiner, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, Bruce A Perkins, Vera Bril
INTRODUCTION: Selecting proper outcome measures is important for clinical practice and clinical studies assessing treatable neuropathies, such as chronic inflammatory demyelinating polyneuropathy (CIDP). OBJECTIVES: To explore clinical characteristics and impairment and disability scores in CIDP patients, and assess their relationship to different CIDP Disease Activity Status (CDAS) classes. METHODS: We performed a retrospective chart review of CIDP patients attending the neuromuscular clinic between January 2014 and December 2015, and explored clinical characteristics, and various impairment and disability scores for different CDAS classes...
January 15, 2017: Journal of the Neurological Sciences
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