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Polyneuropathies

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https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#1
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28447661/the-nonsystemic-vasculitic-neuropathies
#2
REVIEW
Michael P Collins, Robert D Hadden
Nonsystemic vasculitic neuropathy (NSVN) is an under-recognized single-organ vasculitis of peripheral nerves that can only be diagnosed with a nerve biopsy. A Peripheral Nerve Society guideline group published consensus recommendations on the classification, diagnosis and treatment of NSVN in 2010, and new diagnostic criteria for vasculitic neuropathy were developed by the Brighton Collaboration in 2015. In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory sensory neuropathy and postsurgical inflammatory neuropathy...
April 27, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28447402/is-extra-glandular-organ-damage-in-primary-sj%C3%A3-gren-s-syndrome-related-to-the-presence-of-systemic-auto-antibodies-and-or-hypergammaglobulinemia-a-long-term-cohort-study-with-110-patients-from-the-netherlands
#3
Evert-Jan Ter Borg, Johannes Cornelis Kelder
AIM: To test the hypothesis that systemic auto-antibodies or hypergammaglobulinemia are related to the prevalence of extra-glandular tissue organ damage (EGOD) in primary Sjögren's syndrome (SS). METHODS: A real practice-based investigation of a relatively large (n = 110) Dutch cohort of primary SS patients systematically followed up in a large non-academic hospital. RESULTS: After a follow up of mean 8.2 years a significant correlation was found between disease duration and the prevalence of EGOD...
April 26, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28446142/differences-in-peripheral-myelin-antigen-specific-t-cell-responses-and-t-memory-subsets-in-atypical-versus-typical-cidp
#4
M Staudt, J M Diederich, C Meisel, A Meisel, J Klehmet
BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is presented by a large heterogeneity of clinical phenotypes. Around 50% of patients suffer from typical CIDP and show better therapy response than atypical variants. The goal of our study was to search for cellular immunological differences in typical versus atypical CIDP in comparison to controls. METHODS: We evaluated 26 (9 typical, 17 atypical) patients with mainly active-unstable CIDP using clinical and immunological examinations (enzyme-linked immunospot assay ELISPOT, fluorescence-activated cell sorting FACS) in comparison to 28 healthy, age-matched controls (HC)...
April 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28438772/severe-vincristine-induced-polyneuropathy-in-a-teenager-with-anaplastic-medulloblastoma-and-undiagnosed-charcot-marie-tooth-disease
#5
Yasmin Aghajan, Janet M Yoon, John Ross Crawford
Severe neuropathy is a known adverse effect of vincristine in patients with Charcot-Marie-Tooth disease (CMT). We present the case of a 16-year-old girl with anaplastic medulloblastoma treated with gross total resection and high-dose craniospinal radiation with adjuvant vincristine chemotherapy who developed acute-onset severe quadriplegia and vocal cord paralysis. Vincristine and radiation therapy were discontinued. Although her neuropathy slowly improved over several weeks, she developed metastatic extraneural medulloblastoma and died 5 months after diagnosis...
April 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438471/predictors-of-response-to-treatment-with-actovegin-for-6-months-in-patients-with-type-2-diabetes-and-symptomatic-polyneuropathy
#6
Dan Ziegler, Sally Edmundson, Irina Gurieva, Boris Mankovsky, Nikolaos Papanas, Igor Strokov
AIMS: To evaluate two definitions of response and the predictive value of baseline covariates for response to actovegin treatment in type 2 diabetic patients with symptomatic diabetic sensorimotor polyneuropathy (DSPN). METHODS: Response to 6-months treatment with actovegin or placebo was defined as a clinically meaningful decline from baseline to 6months in (1) both Neuropathy Impairment Score of Lower Limbs (NIS-LL) ≥2 points and Total Symptom Score (TSS) >50% and (2) NIS-LL ≥2 points only...
March 30, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28438080/guillain-barr%C3%A3-syndrome-in-pregnancy-a-case-report
#7
Misai Hukuimwe, Tawanda T Matsa, Muchabayiwa F Gidiri
Guillain-Barré syndrome is a rare condition in pregnancy which is characterised by symmetrical progressive ascending polyneuropathy. A case of a 16-year-old nulliparous woman who presented with rapidly progressive limb paralysis following an upper respiratory tract infection a week prior to presentation is discussed. She was intubated as she had developed respiratory failure and managed in the intensive care unit by a multidisciplinary team. Plasma exchange and intravenous immunoglobulin were not readily available so she was managed conservatively...
April 1, 2017: Women's Health
https://www.readbyqxmd.com/read/28434507/motor-neuropathies-and-lower-motor-neuron-syndromes
#8
REVIEW
A Verschueren
Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available...
April 20, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28434350/antibody-therapy-for-transthyretin-related-hereditary-amyloid-polyneuropathy-another-therapeutic-option
#9
Yukio Ando, Mitsuharu Ueda
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434346/refine-penetrance-estimates-in-the-main-pathogenic-variants-of-transthyretin-hereditary-familial-amyloid-polyneuropathy-ttr-fap-using-a-new-non-parametric-approach-npse
#10
Farida Gorram, Flora Alarcon, Hervé Perdry, Bérénice Hébrard, Thibaud Damy, Pascale Fanen, Benoît Funalot, Gregory Nuel, Violaine Planté-Bordeneuve
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434345/epidemiological-and-clinical-characteristics-of-persons-with-transthyretin-hereditary-amyloid-polyneuropathy-a-global-synthesis-of-532-cases
#11
Márcia Waddington Cruz, Hartmut Schmidt, Marc F Botteman, John A Carter, Avijeet S Chopra, Michelle Stewart, Markay Hopps, Shari Fallet, Leslie Amass
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434340/long-term-effects-of-liver-transplantation-on-small-fiber-dysfunction-in-japanese-transthyretin-attr-v30m-hereditary-amyloidosis-with-polyneuropathy-fap
#12
Konen Obayashi, Mitsuharu Ueda, Taro Yamashita, Masayoshi Tasaki, Ayane Izaki, Yukako Yanagisawa, Teruaki Masuda, Yohei Misumi, Yukio Ando
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434339/global-epidemiology-of-transthyretin-hereditary-amyloid-polyneuropathy-a-systematic-review
#13
Hartmut Schmidt, Márcia Waddington Cruz, Marc F Botteman, John A Carter, Avijeet Chopra, Michelle Stewart, Markay Hopps, Shari Fallet, Leslie Amass
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434329/de-novo-hereditary-familial-amyloid-polyneuropathy-fap-in-a-fap-liver-recipient
#14
Sarah Guttmann, Christoph Röcken, Martina Schmidt, Inga Grünewald, Andree Zibert, Jörg Stypmann, Matthias Schilling, Hartmut Schmidt
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434315/diflunisal-compassive-use-in-transthyretin-hereditary-amyloid-polyneuropathy-report-of-a-first-spanish-experience
#15
Sebastián Ernesto Azorín, Christopher Elliot Cabib, Josep Maria Campistol
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28433926/discredited-legacy-stigma-and-familial-amyloid-polyneuropathy-in-northwestern-portugal
#16
Álvaro Mendes, Liliana Sousa, Jorge Sequeiros, Angus Clarke
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness...
April 15, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28432188/magnetic-resonance-neurography-visualizes-abnormalities-in-sciatic-and-tibial-nerves-in-patients-with-type-1-diabetes-and-neuropathy
#17
Michael Vaeggemose, Mirko Pham, Steffen Ringgaard, Hatice Tankisi, Niels Ejskjaer, Sabine Heiland, Per L Poulsen, Henning Andersen
This study evaluates whether diffusion-tensor-imaging MR-Neurography (DTI-MRN), T2-relaxation-time and proton-spin-density can detect and grade neuropathic abnormalities in patients with type 1 diabetes.Forty-nine patients with type 1 diabetes (11 with severe polyneuropathy (sDPN), 13 with mild polyneuropathy (mDPN) and 25 without polyneuropathy (nDPN)) and 30 healthy controls (HC) were included. Clinical examinations, nerve-conduction-studies and vibratory-perception-thresholds determined the presence and severity of DPN...
April 21, 2017: Diabetes
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#18
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28429469/high-body-mass-and-kidney-dysfunction-relate-to-worse-nerve-function-even-in-adults-without-neuropathy
#19
Rens Hanewinckel, M Arfan Ikram, Oscar H Franco, Albert Hofman, Judith Drenthen, Pieter A van Doorn
Polyneuropathy is a prevalent and disabling disorder. Despite extensive evaluation, the cause often remains unknown. Factors that predispose for the development of polyneuropathy need to be identified. We investigated the effect of anthropometric and metabolic factors on peripheral nerve function in 908 participants of the population-based Rotterdam Study without any symptoms or signs of polyneuropathy. Participants underwent nerve conduction studies of the sural and peroneal nerve. Data on age, height, weight, waist circumference, diabetes, lipid levels, hypertension and kidney function were collected...
April 20, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28427125/-the-clinical-value-of-sudoscan-in-diagnosis-of-diabetic-distal-symmetrical-peripheral-neuropathy
#20
J J Ma, S L Hao, X T Cheng, Y Yuan
Objective: To evaluate the clinical value of SUDOSCAN in diagnosis of diabetic distal symmetrical peripheral neuropathy. Methods: According to the diagnostic criteria for multiple diabetic distal symmetrical peripheral neuropathy, a total of 130 patients with type 2 diabetes mellitus (T2DM) in Department of Endocrinology, the Affiliated Hospital of Qingdao University between August 2015 and July 2016 were divided into two groups, diabetic peripheral neuropathy group (DPN group, 50 cases) and non-diabetic peripheral neuropathy group (NDPN group, 80 cases)...
April 18, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
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