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Genetic neuropathies

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https://www.readbyqxmd.com/read/28640813/identification-of-a-sj%C3%A3-gren-s-syndrome-susceptibility-locus-at-oas1-that-influences-isoform-switching-protein-expression-and-responsiveness-to-type-i-interferons
#1
He Li, Tove Ragna Reksten, John A Ice, Jennifer A Kelly, Indra Adrianto, Astrid Rasmussen, Shaofeng Wang, Bo He, Kiely M Grundahl, Stuart B Glenn, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Deborah S Cunninghame Graham, Ketan Patel, Adam J Adler, A Darise Farris, Michael T Brennan, James Chodosh, Rajaram Gopalakrishnan, Michael H Weisman, Swamy Venuturupalli, Daniel J Wallace, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Evan S Vista, Contessa E Edgar, Michael D Rohrer, Donald U Stone, Timothy J Vyse, John B Harley, Patrick M Gaffney, Judith A James, Sean Turner, Ilias Alevizos, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, Courtney G Montgomery, R Hal Scofield, Susan Kovats, Xavier Mariette, Lars Rönnblom, Torsten Witte, Maureen Rischmueller, Marie Wahren-Herlenius, Roald Omdal, Roland Jonsson, Wan-Fai Ng, Gunnel Nordmark, Christopher J Lessard, Kathy L Sivils
Sjögren's syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study...
June 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#2
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28623566/clinical-and-molecular-genetic-features-of-cerebrotendinous-xanthomatosis-patients-in-chinese-families
#3
Chen Chen, Yue Zhang, Hui Wu, Yi-Min Sun, Ye-Hua Cai, Jian-Jun Wu, Jian Wang, Ling-Yun Gong, Zheng-Tong Ding
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The features of Chinese CTX patients reported previously were also reviewed. Three novel mutations of p.Arg513Cys, c...
June 17, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28620280/pathophysiology-of-chemotherapy-induced-peripheral-neuropathy
#4
REVIEW
Hana Starobova, Irina Vetter
Chemotherapy-induced neuropathy is a common, dose-dependent adverse effect of several antineoplastics. It can lead to detrimental dose reductions and discontinuation of treatment, and severely affects the quality of life of cancer survivors. Clinically, chemotherapy-induced peripheral neuropathy presents as deficits in sensory, motor, and autonomic function which develop in a glove and stocking distribution due to preferential effects on longer axons. The pathophysiological processes are multi-factorial and involve oxidative stress, apoptotic mechanisms, altered calcium homeostasis, axon degeneration and membrane remodeling as well as immune processes and neuroinflammation...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28617998/schwann-cell-specific-deletion-of-the-endosomal-pi-3-kinase-vps34-leads-to-delayed-radial-sorting-of-axons-arrested-myelination-and-abnormal-erbb2-erbb3-tyrosine-kinase-signaling
#5
Anne M Logan, Anna E Mammel, Danielle C Robinson, Andrea L Chin, Alec F Condon, Fred L Robinson
The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a recurring cause of demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy. Here, we investigated the role of Vps34, and PI3P, in mouse Schwann cells by selectively deleting Vps34 in this cell type. Vps34-Schwann cell knockout (Vps34(SCKO) ) mice show severe hypomyelination in peripheral nerves...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28611204/clinical-and-genome-wide-analysis-of-cisplatin-induced-peripheral-neuropathy-in-survivors-of-adult-onset-cancer
#6
M Eileen Dolan, Omar El Charif, Heather E Wheeler, Eric R Gamazon, Shirin Ardeshir-Rouhani-Fard, Patrick Monahan, Darren R Feldman, Robert Hamilton, David J Vaughn, Clair Beard, Chunkit Fung, Sophie D Fossa, Daniel L Hertz, Taisei Mushiroda, Michiaki Kubo, Lawrence H Einhorn, Nancy Cox, Lois Travis
Our purpose was to characterize the clinical influences, genetic risk factors, and gene mechanisms contributing to persistent cisplatin-induced peripheral neuropathy (CisIPN) in testicular cancer survivors (TCS).<br /><br />Experimental Design: <p>TCS given cisplatin-based therapy completed the validated EORTC QLQ-CIPN20 questionnaire. An ordinal CisIPN phenotype was derived and associations with age, smoking, excess drinking, hypertension, body mass index, diabetes, hypercholesterolemia, cumulative cisplatin dose, and self-reported health were examined for 680 TCS...
June 13, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28606272/-progression-of-the-pathogenesis-of-thyroid-associated-ophthalmopathy
#7
L Wang, J M Ma
Thyroid associated ophthalmopathy (TAO) is a common complication of Graves' disease (GD). The clinical manifestations are mainly swelling and retracted eyelid, protopsis and limited eye movements, and optic neuropathy can be seen in severe cases. The mechanism of TAO is not yet clear. A large number of studies have found that the disorders of autoimmunity play an important role in TAO, while genetic factors, oxidative stress, and environmental factors such as smoking participate in it. Therefore, we consult a large number of studies and expound the pathogenesis from the aspects of genetic susceptibility, immune mechanism, oxidative stress, and the effects of smoking to provide referrences for clinical associated studies...
June 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28601886/auna2-a-novel-type-of-non-syndromic-slowly-progressive-auditory-synaptopathy-auditory-neuropathy-with-autosomal-dominant-inheritance
#8
Ruth Lang-Roth, Eva Fischer-Krall, Cornelia Kornblum, Gudrun Nürnberg, Dieter Meschede, Ingrid Goebel, Peter Nürnberg, Dirk Beutner, Christian Kubisch, Martin Walger, Alexander E Volk
BACKGROUND: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative...
June 10, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28600132/brentuximab-vedotin-or-physician-s-choice-in-cd30-positive-cutaneous-t-cell-lymphoma-alcanza-an-international-open-label-randomised-phase-3-multicentre-trial
#9
H Miles Prince, Youn H Kim, Steven M Horwitz, Reinhard Dummer, Julia Scarisbrick, Pietro Quaglino, Pier Luigi Zinzani, Pascal Wolter, Jose A Sanches, Pablo L Ortiz-Romero, Oleg E Akilov, Larisa Geskin, Judith Trotman, Kerry Taylor, Stephane Dalle, Michael Weichenthal, Jan Walewski, David Fisher, Brigitte Dréno, Rudolf Stadler, Tatyana Feldman, Timothy M Kuzel, Yinghui Wang, Maria Corinna Palanca-Wessels, Erin Zagadailov, William L Trepicchio, Wenwen Zhang, Hui-Min Lin, Yi Liu, Dirk Huebner, Meredith Little, Sean Whittaker, Madeleine Duvic
BACKGROUND: Cutaneous T-cell lymphomas are rare, generally incurable, and associated with reduced quality of life. Present systemic therapies rarely provide reliable and durable responses. We aimed to assess efficacy and safety of brentuximab vedotin versus conventional therapy for previously treated patients with CD30-positive cutaneous T-cell lymphomas. METHODS: In this international, open-label, randomised, phase 3, multicentre trial, we enrolled adult patients with CD30-positive mycosis fungoides or primary cutaneous anaplastic large-cell lymphoma who had been previously treated...
June 6, 2017: Lancet
https://www.readbyqxmd.com/read/28595831/-charcot-marie-tooth-disease-associated-with-hip-dysplasia-in-an-adolescent
#10
T Langlais, J-C Leonard, C Ursu, C Morin
Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28591300/risk-factors-for-unstable-blood-glucose-level-integrative-review-of-the-risk-factors-related-to-the-nursing-diagnosis
#11
Andressa Magalhães Teixeira, Rosangela Tsukamoto, Camila Takáo Lopes, Rita de Cassia Gengo E Silva
Objective: to identify evidence in the literature on the possible risk factors for the risk of unstable blood glucose diagnosis in individuals with type 2 diabetes mellitus, and to compare them with the risk factors described by NANDA International. Method: an integrative literature review guided by the question: what are the risk factors for unstable blood glucose level in people with type 2 diabetes mellitus? Primary studies were included whose outcomes were variations in glycemic levels, published in English, Portuguese or Spanish, in PubMed or CINAHL between 2010 and 2015...
June 5, 2017: Revista Latino-americana de Enfermagem
https://www.readbyqxmd.com/read/28587874/neuropathies-in-the-setting-of-neurofibromatosis-tumor-syndromes-complexities-and-opportunities
#12
REVIEW
Alexander Schulz, Peter Grafe, Christian Hagel, Philipp Bäumer, Helen Morrison, Victor-Felix Mautner, Said Farschtschi
The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum...
June 3, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28579746/psychological-morbidity-in-leber-s-hereditary-optic-neuropathy-depends-on-phenotypic-social-economic-and-genetic-factors
#13
COMMENT
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28571779/clinical-and-molecular-characterization-of-6-children-with-glutamate-cysteine-ligase-deficiency-causing-hemolytic-anemia
#14
Fatima Almusafri, Hiba E Elamin, Tamam E Khalaf, Alaa Ali, Tawfeg Ben-Omran, Ayman W El-Hattab
Glutathione (gamma-glutamylcysteinylglycine) has diverse functions including free radicals scavenging and modulating many critical cellular processes. Glutathione is synthesized by the consecutive action of the enzymes glutamate-cysteine ligase (GCL) and glutathione synthetase. GCL is composed of a catalytic subunit encoded by the GCLC gene and a regulatory subunit encoded by the GCLM gene. GCL deficiency due to homozygous mutations in GCLC has been reported in 6 individuals from 4 independent families. All presented with hemolytic anemia and 4 had additional neurological manifestations including cognitive impairment, neuropathy, ataxia, and myopathy...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28566165/peripheral-neuropathy-in-idiopathic-parkinson-s-disease-a-systematic-review
#15
REVIEW
Panagiotis Zis, Richard A Grünewald, Ray Kallol Chaudhuri, Marios Hadjivassiliou
BACKGROUND: Parkinson's disease (PD) has been associated with peripheral neuropathy (PN). PN has been demonstrated in some rare genetic forms of PD (e.g. PARK2 mutations) but has also been linked to levodopa exposure. OBJECTIVE: The aim of this systematic review is to clarify any evidence of peripheral nervous system involvement in idiopathic PD. METHODS: A systematic computer-based literature search was conducted on PubMed database. FINDINGS: The pooled estimate of the prevalence of large fiber PN in PD was 16...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28560631/genetics-of-hiv-associated-sensory-neuropathy-and-related-pain-in-africans
#16
REVIEW
Huguette Gaelle Ngassa Mbenda, Antonia Wadley, Zane Lombard, Catherine Cherry, Patricia Price, Peter Kamerman
Despite the use of safer antiretroviral medications, the rate of HIV-associated sensory neuropathy (HIV-SN), the most common neurological complication of HIV, remains high. This condition is often painful and has a negative effect on quality of life. Up to 90% of those with HIV-SN experience pain for which there is no effective analgesic treatment. Genetic factors are implicated, but there is a lack of a comprehensive body of research for African populations. This knowledge gap is even more pertinent as Africans are most affected by HIV...
May 30, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28555600/audiological-findings-in-charcot-marie-tooth-disease-type-4c
#17
Rafael Sivera, Laura Cavalle, Juan J Vílchez, Carmen Espinós, Herminio Pérez Garrigues, Teresa Sevilla
OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. Vestibulopathy caused by the dysfunction of cranial nerve VIII has been demonstrated in a high percentage of these patients, but the presence and degree of auditory neuropathy are unknown. The aim of the study was to characterize the hearing abnormalities of a series of patients with CMT4C and to determine the presence and severity of auditory neuropathy (AN) in these patients...
April 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28553203/autophagy-as-an-emerging-common-pathomechanism-in-inherited-peripheral-neuropathies
#18
REVIEW
Mansour Haidar, Vincent Timmerman
The inherited peripheral neuropathies (IPNs) comprise a growing list of genetically heterogeneous diseases. With mutations in more than 80 genes being reported to cause IPNs, a wide spectrum of functional consequences is expected to follow this genotypic diversity. Hence, the search for a common pathomechanism among the different phenotypes has become the holy grail of functional research into IPNs. During the last decade, studies on several affected genes have shown a direct and/or indirect correlation with autophagy...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28552035/novel-pnkp-mutation-in-siblings-with-ataxia-oculomotor-apraxia-type-4
#19
Nicoline Schiess, David S Zee, Khurram A Siddiqui, Miklos Szolics, Ayman W El-Hattab
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory evaluation revealed hypoalbuminemia, hypercholesterolemia with elevated LDL, elevated IgE levels and normal α fetoprotein levels...
March 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28545922/diseases-of-connexins-expressed-in-myelinating-glia
#20
REVIEW
Charles K Abrams
Connexins are a family of integral membrane proteins most of which form gap junctions and many of which form hemichannels as well. Mutations in at least 9 of the 21 genes encoding human connexin proteins cause human diseases. Mutations in GJB1 (Cx32), expressed in both Schwann cells and oligodendrocytes, cause both a form of inherited peripheral neuropathy and a variety of CNS symptoms. Mutations in GJC2 (Cx47), expressed only in oligodendrocytes within the nervous system, cause a severe early onset dysmyelinating disorder, Pelizaeus-Merzbacher-Like disease (PMLD1 or HLD2), hereditary spastic paraplegia (SPG44), which has a milder phenotype and later onset, and a subclinical leukodystrophy...
May 22, 2017: Neuroscience Letters
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