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Journal of the Peripheral Nervous System: JPNS

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https://www.readbyqxmd.com/read/28177573/novel-ntrk1-mutations-associated-with-congenital-insensitivity-to-pain-with-anhidrosis-verified-by-functional-studies
#1
Tai-Seung Nam, Wenting Li, Somy Yoon, Gwang Hyeon Eom, Myeong-Kyu Kim, Sung Taek Jung, Seok-Yong Choi
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior and variable mental retardation. Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. We identified four novel NTRK1 mutations in six Korean patients from four unrelated families. Of the four mutations, we demonstrated using a splicing assay that IVS14+3A>T causes aberrant splicing of NTRK1 mRNA, leading to introduction of a premature termination codon...
February 8, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28177572/diabetes-mellitus-may-affect-short-term-outcome-of-guillain-barr%C3%A3-syndrome
#2
Stojan Peric, Ivo Bozovic, Bogdan Bjelica, Ivana Berisavac, Olivera Stojiljkovic, Ivana Basta, Ljiljana Beslac-Bumbasirevic, Vidosava Rakocevic-Stojanovic, Dragana Lavrnic, Zorica Stevic
We sought to determine influence of diabetes mellitus on GBS course and short-term prognosis. Among the 257 GBS patients included in this retrospective study, diabetes mellitus was present in 17%. The degree of disability at admission and on discharge was assessed according to the GBS Disability Scale (mild disability = 0-3, severe disability = 4-6). Even after correction for age, diabetes mellitus was significantly associated with more severe disability at nadir (OR=3.4, P < 0.05) and on discharge (OR=2...
February 8, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27991707/guillain-barr%C3%A3-syndrome-in-france-a-nationwide-epidemiological-analysis-based-on-hospital-discharge-data-2008-2013
#3
Alexandra Delannoy, Jérémie Rudant, Christophe Chaignot, Francis Bolgert, Yann Mikaeloff, Alain Weill
Guillain-Barré syndrome (GBS) is potentially life-threatening and typically occurs after an infection. No detailed information is available concerning the epidemiological characteristics of GBS in France. We estimated age- and sex-specific incidence rates (IR) based on a French nationwide hospital discharge database. All patients hospitalized for GBS between 2008 and 2013 were identified by ICD-10 code G61.0 as principal diagnosis. Patients previously hospitalized for GBS in 2006 and 2007 were excluded. Sensitivity analyses were performed by considering alternative case definitions, based on more restrictive sets of codes...
December 19, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27982524/a-novel-ndrg1-mutation-in-a-non-romani-patient-with-cmt4d-hmsn-lom
#4
Giuseppe Piscosquito, Stefania Magri, Paola Saveri, Micaela Milani, Claudia Ciano, Laura Farina, Franco Taroni, Davide Pareyson
Charcot-Marie-Tooth disease type 4D (CMT4D), also known as Hereditary Motor Sensory Neuropathy Lom Type (HMSNL), is an autosomal recessive, early-onset, severe demyelinating neuropathy with hearing loss, caused by NDRG1 mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38-year-old Italian female with motor development delay, progressive neuropathy and sensorineural deafness. MRI showed slight atrophy of cerebellum, medulla oblongata and upper cervical spinal cord...
December 16, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27982499/hereditary-gelsolin-amyloidosis-hga-a-neglected-cause-of-bilateral-progressive-or-recurrent-facial-palsy
#5
Anna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, Laura Fadda, Lisa Melzi, Antonio Morico, Claudia Ciano, Franco Taroni, Dante Facchetti, Ettore Salsano, Davide Pareyson
We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother...
December 16, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27935216/modulation-of-diet-induced-mechanical-allodynia-by-metabolic-parameters-and-inflammation
#6
Michael A Cooper, Janelle M Ryals, Pau Yen Wu, Kellen D Wright, Katherine R Walter, Douglas E Wright
Dietary-associated diseases have increased tremendously in our current population, yet key molecular changes associated with high-fat diets that cause clinical prediabetes, obesity, hyperglycemia, and peripheral neuropathy remain unclear. This study examines molecular and metabolic aspects altered by voluntary exercise and a high-fat diet in the mouse dorsal root ganglion. Mice were examined for changes in mRNA and proteins encoding anti-inflammatory mediators, metabolic-associated molecules, and pain associated ion channels...
December 9, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27917570/handwriting-difficulties-of-children-with-charcot-marie-tooth-disease-type-1a
#7
Daniel Kunovsky, Reinie Cordier, Paula Bray, Joshua Burns
Hand weakness and impaired manual dexterity have been reported in children with Charcot-Marie-Tooth disease type 1A (CMT1A). This early onset of upper limb involvement might explain frequent clinical referrals for assessment and treatment of impaired handwriting performance. The aim of this study was to examine the impact of CMT1A on handwriting speed and legibility, and identify demographic, anthropometric and physical measures that might relate to handwriting performance. Handwriting speed (Handwriting Speed Test), handwriting legibility (Evaluation Tool of Children's Handwriting-Cursive) and hand strength (hand-held dynamometry of tip pinch, lateral pinch and grip) were assessed in 30 children with CMT1A (aged 8-17 years) and 30 age- and sex-matched controls...
December 5, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27717230/asymptomatic-dengue-infection-may-trigger-guillain-barr%C3%A3-syndrome
#8
LETTER
Thirugnanam Umapathi, Christen Sheng Jie Lim, Eng Eong Ooi, Summer L Zhang, Eunice Jin Hui Goh, Hwee Cheng Tan, Kelly Yi Shi Chng, Hugh Willison
No abstract text is available yet for this article.
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27717217/histopathological-features-of-a-patient-with-charcot-marie-tooth-disease-type-2u-ad-cmtax-mars
#9
Makito Hirano, Nobuyuki Oka, Akihiro Hashiguchi, Shuichi Ueno, Hikaru Sakamoto, Hiroshi Takashima, Yujiro Higuchi, Susumu Kusunoki, Yusaku Nakamura
Charcot-Marie-Tooth (CMT) disease is a complex of peripheral nervous system disorders. CMT type 2U (CMT2U) is an autosomal dominant (AD) disease caused by mutations in the MARS gene encoding methionyl-tRNA synthetase; this disease has thus been newly called AD-CMTax-MARS. A few families with mutations in the MARS gene have been reported, without detailed histopathological findings. We describe a 70-year-old woman who had bilateral dysesthesia of the soles since the age of 66 years. Sural nerve biopsy showed a decrease in the density of large myelinated nerve fibers...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27706887/increased-mitochondrial-fusion-in-a-autosomal-recessive-cmt2a-family-with-mitochondrial-gtpase-mitofusin-2-mutations
#10
Philippe Codron, Arnaud Chevrollier, Mariame S Kane, Andoni Echaniz-Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early-onset autosomal recessive CMT2A (AR-CMT2A) have been reported in recent years. In this study, we characterized the structure of the mitochondrial network in cultured primary fibroblasts obtained from AR-CMT2A family members. The patient-derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27699915/relationship-between-physical-performance-and-quality-of-life-in-charcot-marie-tooth-disease-a-pilot-study
#11
Daniel Roberts-Clarke, Che Fornusek, Nidhi Saigal, Mark Halaki, Joshua Burns, Garth Nicholson, Maria Fiatarone Singh, Daniel Hackett
Charcot-Marie-Tooth (CMT) is a rare inherited peripheral neuropathy in which quality of life (QoL) is reduced compared with the general population. This paper investigates the relationship between QoL and physical performance in people with CMT with the aim of identifying avenues for future research into rehabilitation strategies. Cross-sectional data was obtained from 10 participants (5 men, 5 women, age 46 ± 13 years, height 1.7 ± 0.1 m, body mass 77 ± 17 kg) with CMT (CMT1A n = 5; CMT-X n = 3; unknown genetic origin n = 2)...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27616152/guillain-barr%C3%A3-syndrome-in-bangladesh-validation-of-brighton-criteria
#12
Mohammad B Islam, Zhahirul Islam, Kaniz S Farzana, Sumit K Sarker, Hubert P Endtz, Quazi D Mohammad, Bart C Jacobs
Guillain-Barré syndrome has a diverse clinical phenotype related to geographical origin. To date, the majority of large-scale studies on Guillain-Barré syndrome (GBS) have been conducted in developed countries. We aimed to evaluate the key diagnostic features and assess the suitability of the Brighton criteria in 344 adult GBS patients from Bangladesh. All patients fulfilled the National Institute of Neurological Diseases and Stroke (NINDS) diagnostic criteria. Standardized data on demographic characteristics and clinical features, cerebrospinal fluid (CSF) analysis, and nerve conduction study (NCS) results were elaborated to measure the sensitivity of Brighton criteria...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27616001/top-100-cited-articles-on-guillain-barr%C3%A3-syndrome-a-bibliometric-analysis
#13
Jee-Eun Kim, Jong Kuk Kim, Kang Min Park, Yerim Kim, Dae Young Yoon, Jong Seok Bae
Since the first description of Guillain-Barré syndrome (GBS) 100 years ago, the concept of this syndrome has changed remarkably. The purpose of our study was to identify and characterize the most-cited articles that have contributed to advancing the understanding of GBS. Based on the database of Journal Citation Reports, we selected 554 journals that were considered as potential sources of reports on studies related to clinical neurology and general medicine. The Web of Science search tools were used to identify the most-cited articles relevant to GBS or other variants in the selected journals...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27513454/gait-in-children-and-adolescents-with-charcot-marie-tooth-disease-a-systematic-review
#14
REVIEW
Rachel A Kennedy, Kate Carroll, Jennifer L McGinley
Symptoms of Charcot-Marie-Tooth (CMT) disease typically arise in childhood or adolescence with gait difficulty most common. A systematic review was conducted to synthesise, review, and characterise gait in paediatric CMT. Health-related electronic databases were reviewed with search terms related to CMT and gait. Of 454 articles, 10 articles describing seven studies met eligibility criteria; samples ranged from 1 to 81, included mixed CMT sub-types and had a participant mean age of 13 years. Assessments included a variety of methods to examine only barefoot gait...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27477441/incidence-of-guillain-barr%C3%A3-syndrome-in-chile-a-population-based-study
#15
Gonzalo Rivera-Lillo, Rodrigo Torres-Castro, Pablo I Burgos, Gonzalo Varas-Díaz, Roberto Vera-Uribe, Homero Puppo, Mauricio Hernández
The Guillain-Barré syndrome (GBS) incidence rate (IR) varies between 0.16 and 3.00 cases per 100,000 inhabitants. Little data exist on the epidemiology of GBS in Latin American countries. Our objective was to describe GBS epidemiology based on a national database in a Latin American country and to contribute to the global map of GBS epidemiology. This was a retrospective study that included all reported GBS cases in Chile between 2001 and 2012. Gender, age, seasonal occurrence, and geographical distribution were analyzed...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27403623/transthyretin-familial-amyloid-polyneuropathy-ttr-fap-in-mallorca-a-comparison-between-late-and-early-onset-disease
#16
Juan Buades-Reinés, Manuel Raya-Cruz, Cristina Gallego-Lezaún, Tomás Ripoll-Vera, Mercedes Usón-Martín, Hernán Andreu-Serra, Eugenia Cisneros-Barroso
The age of onset (AO) of hereditary ATTR amyloidosis (hATTR) is known to vary between populations, with differing characteristics reported according to AO in endemic/non-endemic foci. This was a retrospective study of patients with early AO (<50 years) and late AO (≥50 years) hATTR at our center in Mallorca. Data were collected on patient demographics, clinical disease manifestation, and physical symptoms. A total of 95 patients were analyzed, with mean follow-up of 9 years from diagnosis. The early AO group included 53 patients (33 male) and the late AO group included 42 patients (21 male)...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27868289/determinants-of-health-related-quality-of-life-in-anti-mag-neuropathy-a-cross-sectional-multicentre-european-study
#17
Emilien Delmont, Fu Liong Hiew, Julien Cassereau, Anne-Catherine Aubé-Nathier, Aude-Marie Grapperon, Shahram Attarian, Yusuf A Rajabally
Our objective was to assess determinants of quality of life (QoL) in anti-myelin associated glycoprotein antibody (MAG) neuropathy. The SF-36 questionnaire was assessed in 55 patients, from Marseille, Angers (France) and Birmingham (United Kingdom). Routine clinical evaluations included MRC sum score, INCAT sensory score, Inflammatory Rasch-built Overall Disability Score (I-RODS), ataxia score, Jamar grip dynamometry, timed 10 m-walk, Neuropathic Pain Symptom Inventory (NPSI) score, and Fatigue Severity Score (FSS)...
November 21, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#18
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p...
November 17, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27862672/clinical-and-genetic-spectra-of-charcot-marie-tooth-disease-in-chinese-han-patients
#19
Bo Sun, Zhaohui Chen, Li Ling, Fei Yang, Xusheng Huang
Charcot-Marie-Tooth disease (CMT) is a common hereditary motor and sensory neuropathy. Epidemiological data for Chinese CMT patients are few. This study aimed to analyze the electrophysiological and genetic characteristics of Chinese Han patients. 106 unrelated patients with the clinical diagnosis of CMT were included. Clinical examination, nerve conduction studies (NCS), next-generation sequencing (NGS), and bioinformatic analyses were performed. Genetic testing was performed for 82 patients; 27 (33%) patients carried known CMT-associated gene mutations...
November 8, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27801990/inhibition-of-complement-in-guillain-barr%C3%A3-syndrome-the-ica-gbs-study
#20
Amy I Davidson, Susan K Halstead, John A Goodfellow, Govind Chavada, Arup Mallik, James Overell, Michael P Lunn, Alex McConnachie, Pieter van Doorn, Hugh J Willison
The outcome of Guillain-Barré syndrome remains unchanged since plasma exchange and intravenous immunoglobulin were introduced over 20 years ago. Pathogenesis studies on GBS have identified the terminal component of complement cascade as a key disease mediator and therapeutic target. We report the first use of terminal complement pathway inhibition with eculizumab in humans with GBS. In a randomised, double-blind, placebo-controlled trial, 28 subjects eligible on the basis of GBS disability grade of at least 3 were screened, of whom 8 (29%) were randomised...
November 1, 2016: Journal of the Peripheral Nervous System: JPNS
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