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autonomic sensory neuropathy

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https://www.readbyqxmd.com/read/28807049/oral-manifestations-dental-management-and-a-rare-homozygous-mutation-of-the-prdm12-gene-in-a-boy-with-hereditary-sensory-and-autonomic-neuropathy-type-viii-a-case-report-and-review-of-the-literature
#1
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28798722/autonomic-neuropathy-and-albuminocytologic-dissociation-in-cerebrospinal-fluid-as-the-presenting-features-of-primary-amyloidosis-a-case-report
#2
Jingjing Li, Yi Li, Hongbing Chen, Shihui Xing, Huiyu Feng, Dawei Liu, Dilong Wang, Jinsheng Zeng, Yuhua Fan
OBJECTIVE: Primary amyloidosis is a disease with a poor prognosis and multi-organ involvement. Here, we report the clinical and pathological features of a patient with primary amyloidosis featuring autonomic neuropathy as the initial symptom and albuminocytologic dissociation in the cerebrospinal fluid (CSF). METHODS: The patient was a 60-year-old Chinese male with numbness, orthostatic hypotension, and gastrointestinal symptoms. For diagnosis, we performed an electromyogram (EMG), lumbar puncture, Bence Jones protein urine test, serum electrophoresis blood test, sural nerve and rectal membrane biopsies, transthyretin (TTR) gene sequencing, and bone marrow puncture...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28797631/hspb1-mutations-causing-hereditary-neuropathy-in-humans-disrupt-non-cell-autonomous-protection-of-motor-neurons
#3
Patrick L Heilman, SungWon Song, Carlos J Miranda, Kathrin Meyer, Amit K Srivastava, Amy Knapp, Christopher G Wier, Brian K Kaspar, Stephen J Kolb
Heat shock protein beta-1 (HSPB1), is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. HSPB1 also displays neuroprotective properties in many neuronal disease models, including the motor neuron disease amyotrophic lateral sclerosis (ALS)...
August 7, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28780535/clinical-physiological-and-pathological-characterisation-of-the-sensory-predominant-peripheral-neuropathy-in-copper-deficiency
#4
Sean W Taylor, Ruple S Laughlin, Neeraj Kumar, Brent Goodman, Christopher J Klein, Peter J Dyck, P James B Dyck
INTRODUCTION: Myelopathy is considered the most common neurological complication of copper deficiency. Concurrent peripheral neuropathy has been recognised in association with copper deficiency but has not been well characterised. OBJECTIVES: To characterise the clinical, physiological and pathological features of copper-deficient peripheral neuropathy. METHODS: Patients with simultaneous copper deficiency (<0.78 μg/mL) and peripheral neuropathy seen at the Mayo Clinic from 1985 to 2005 were identified...
August 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28766925/posterior-column-ataxia-with-retinitis-pigmentosa-coexisting-with-sensory-autonomic-neuropathy-and-leukemia-due-to-the-homozygous-p-pro221ser-flvcr1-mutation
#5
Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando
FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p...
August 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28747449/loss-of-cutaneous-large-and-small-fibers-in-naive-and-l-dopa-treated-pd-patients
#6
Maria Nolano, Vincenzo Provitera, Fiore Manganelli, Rosa Iodice, Annamaria Stancanelli, Giuseppe Caporaso, Annamaria Saltalamacchia, Francesca Califano, Bernardo Lanzillo, Marina Picillo, Paolo Barone, Lucio Santoro
OBJECTIVE: To study small and large fiber pathology in drug-naive and l-dopa-treated patients affected by Parkinson disease (PD) in early phases, before the occurrence of neuropathic electrophysiologic abnormalities. METHODS: We enrolled 85 patients with idiopathic PD (male/female 49/36, age 61.3 ± 9.7 years) without electrophysiologic signs of neuropathy, including 48 participants naive to l-dopa treatment. All patients underwent clinical, functional, and morphologic assessment of sensory and autonomic nerves through dedicated questionnaires, quantitative sensory testing, sympathetic skin response, dynamic sweat test, and punch biopsies from glabrous and hairy skin...
July 26, 2017: Neurology
https://www.readbyqxmd.com/read/28743660/oxaliplatin-induced-peripheral-neuropathy-and-identification-of-unique-severity-groups-in-colorectal-cancer
#7
Kathleen A Griffith, Shijun Zhu, Meg Johantgen, Michael D Kessler, Cynthia Renn, Andreas S Beutler, Rahul Kanwar, Nicholas Ambulos, Guido Cavaletti, Jordi Bruna, Chiara Briani, Andreas A Argyriou, Haralabos P Kalofonos, Laura M Yerges-Armstrong, Susan G Dorsey
CONTEXT: Oxaliplatin-induced peripheral neuropathy (OIPN) is a dose limiting toxicity of oxaliplatin and affects most colorectal cancer (CRC) patients. OIPN is commonly evaluated by patient symptom report, using scales to reflect impairment. They do not discriminate between unique grouping of symptoms and signs, which impedes prompt identification of OIPN. OBJECTIVE: Our study objective was to identify clusters of symptoms and signs that differentiated underlying clinical severity and segregated patients within our population into OIPN subgroups...
July 22, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28736206/bpag1-in-muscles-structure-and-function-in-skeletal-cardiac-and-smooth-muscle
#8
REVIEW
Masao Horie, Nozomu Yoshioka, Hirohide Takebayashi
BPAG1, also known as Dystonin or BP230, belongs to the plakin family of proteins, which has multiple cytoskeleton-binding domains. Several BPAG1 isoforms are produced by a single BPAG1 genomic locus using different promoters and exons. For example, BPAG1a, BPAG1b, and BPAG1e are predominantly expressed in the nervous system, muscle, and skin, respectively. Among BPAG1 isoforms, BPAG1e is well studied because it was first identified as an autoantigen in patients with bullous pemphigoid, an autoimmune skin disease...
July 20, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28706586/influence-of-cardiac-nerve-status-on-cardiovascular-regulation-and-cardioprotection
#9
REVIEW
John G Kingma, Denys Simard, Jacques R Rouleau
Neural elements of the intrinsic cardiac nervous system transduce sensory inputs from the heart, blood vessels and other organs to ensure adequate cardiac function on a beat-to-beat basis. This inter-organ crosstalk is critical for normal function of the heart and other organs; derangements within the nervous system hierarchy contribute to pathogenesis of organ dysfunction. The role of intact cardiac nerves in development of, as well as protection against, ischemic injury is of current interest since it may involve recruitment of intrinsic cardiac ganglia...
June 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28685718/clinical-characteristics-electrophysiology-and-skin-biopsy-of-38-peripheral-neuropathy-cases-with-small-fiber-involvement-of-various-etiologies
#10
Bo Sun, Li-Zhi Liu, Yi-Fan Li, Zhao-Hui Chen, Li Ling, Fei Yang, Fang Cui, Xu-Sheng Huang
BACKGROUND: In small fiber neuropathy (SFN), thinly myelinated Aδ and unmyelinated C fibers are primarily affected, resulting in sensory and/or autonomic symptoms. Various etiologies have been shown to be associated with SFN. This study was aimed to analyze a variety of features in peripheral neuropathy (PN) with small fiber involvement, and to compare disease severity among patients with idiopathic PN, PN associated with impaired glucose tolerance (IGT), and metabolic syndrome (MS) PN...
July 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28676377/is-there-a-connection-between-postprandial-hyperglycemia-and-igt-related-sensory-nerve-dysfunction
#11
N Németh, Z Putz, I Istenes, A E Körei, O E Vági, M Kempler, R Gandhi, G Jermendy, S Tesfaye, Á G Tabák, P Kempler
BACKGROUND AND AIMS: To assess the risk factors for sensory nerve dysfunction in subjects with isolated impaired glucose tolerance (IGT). METHODS AND RESULTS: Seventy-two people with isolated IGT (WHO 1999 criteria) and 39 gender and age-matched healthy volunteers underwent detailed clinical and neurological assessment including quantitative sensory testing using the Neurometer device (current perception threshold measurement on four limbs at three different frequencies)...
May 11, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28667575/animal-and-cellular-models-of-familial-dysautonomia
#12
REVIEW
Frances Lefcort, Marc Mergy, Sarah B Ohlen, Yumi Ueki, Lynn George
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. FD is classified as a hereditary sensory and autonomic neuropathy (HSAN type III) and is both a developmental and a progressive neurodegenerative condition that results from an autosomal recessive mutation in the gene IKBKAP, also known as ELP1. FD primarily impacts the peripheral nervous system but also manifests in central nervous system disruption, especially in the retina and optic nerve...
August 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28664460/the-prevalence-and-pattern-of-chemotherapy-induced-peripheral-neuropathy-among-women-with-breast-cancer-receiving-care-in-a-large-community-oncology-practice
#13
Natalie B Simon, Michael A Danso, Thomas A Alberico, Ethan Basch, Antonia V Bennett
PURPOSE: To describe the prevalence, severity, and risk factors of chemotherapy-induced peripheral neuropathy (CIPN) and its impact on function and quality of life (QOL) among women treated for breast cancer in a large U.S. Community Oncology practice. METHODS: Women previously treated with taxane-based chemotherapy for early-stage breast cancer completed the EORTC QLQ-C30, QLQ-BR23, and QLQ-CIPN20. Subscales are scored 0-100; higher scores indicate greater symptom severity...
June 29, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28645526/injury-induced-gp130-cytokine-signaling-in-peripheral-ganglia-is-reduced-in-diabetes-mellitus
#14
Jon P Niemi, Angela R Filous, Alicia DeFrancesco, Jane A Lindborg, Nisha A Malhotra, Gina N Wilson, Bowen Zhou, Samuel D Crish, Richard E Zigmond
Neuropathy is a major diabetic complication. While the mechanism of this neuropathy is not well understood, it is believed to result in part from deficient nerve regeneration. Work from our laboratory established that gp130 family of cytokines are induced in animals after axonal injury and are involved in the induction of regeneration-associated genes (RAGs) and in the conditioning lesion response. Here, we examine whether a reduction of cytokine signaling occurs in diabetes. Streptozotocin (STZ) was used to destroy pancreatic β cells, leading to chronic hyperglycemia...
June 20, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28644253/spectrum-of-autonomic-nervous-system-impairment-in-sj%C3%A3-gren-syndrome
#15
Brent P Goodman, Amy Crepeau, Priya S Dhawan, Julie A Khoury, Lucinda A Harris
OBJECTIVE: To describe the spectrum of autonomic dysfunction in a uniformly evaluated cohort of patients with Sjögren syndrome. METHODS: A series of 13 patients underwent a comprehensive evaluation for suspected autonomic impairment, including a neurological examination, autonomic testing, and laboratory studies. A diagnosis of Sjögren syndrome was established as the cause of autonomic dysfunction in all. Clinical features, findings on autonomic testing, and laboratory results are described...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28620280/pathophysiology-of-chemotherapy-induced-peripheral-neuropathy
#16
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/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#17
REVIEW
Eliyahu Mass
The oro-dento-facial features and dysfunctions of children with hereditary sensory and autonomic neuropathy type III (HSAN III), known as familial dysautonomia (FD) or Riley-Day syndrome, were first described in the scientific literature in 1949. They include: dental trauma, dental and soft tissue selfmutilation, normal dental age, normal sequence and timing of eruption and exfoliation of teeth, smaller tooth size, different and disproportional tooth components, normal alveolar bone height, small jaws, mild crowding and malocclusion...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28526993/microvascular-complications-associated-with-rapid-improvements-in-glycemic-control-in-diabetes
#18
REVIEW
Christopher H Gibbons, Ann Goebel-Fabbri
PURPOSE OF REVIEW: Aggressive glycemic control has become the standard clinical approach to diabetes care. Unintended consequences have included the development of microvascular complications that are related to the rapidity of glycemic improvement. RECENT FINDINGS: Diabetic neuropathy may develop in up to 10% of individuals secondary to aggressive glycemic control. The neuropathy is predominantly small fiber sensory and autonomic, and the severity of the neuropathy is tied to the change in the glycosylated hemoglobin A1C...
July 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28468842/novel-mutations-in-dystonin-provide-clues-to-the-pathomechanisms-of-hsan-vi
#19
Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana P Rebelo, Vincenzo Provitera, Filippo M Santorelli, Michael E Shy, Tommaso Russo, Stephan Zuchner, Lucio Santoro
OBJECTIVE: To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC). METHODS: The family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation and genetic analysis. Two patients underwent quantitative sensory testing (QST), cardiovascular reflexes, dynamic sweat test, and skin biopsy to evaluate somatic and autonomic cutaneous innervation and to get fibroblast cultures for developing iPSC-derived neurons...
May 30, 2017: Neurology
https://www.readbyqxmd.com/read/28442382/relationship-between-sensorimotor-peripheral-nerve-function-and-indicators-of-cardiovascular-autonomic-function-in-older-adults-from-the-health-aging-and-body-composition-study
#20
Brittney S Lange-Maia, Anne B Newman, John M Jakicic, Jane A Cauley, Robert M Boudreau, Ann V Schwartz, Eleanor M Simonsick, Suzanne Satterfield, Aaron I Vinik, Sasa Zivkovic, Tamara B Harris, Elsa S Strotmeyer
BACKGROUND: Age-related peripheral nervous system (PNS) impairments are highly prevalent in older adults. Although sensorimotor and cardiovascular autonomic function have been shown to be related in persons with diabetes, the nature of the relationship in general community-dwelling older adult populations is unknown. METHODS: Health, Aging and Body Composition participants (n=2399, age=76.5±2.9years, 52% women, 38% black) underwent peripheral nerve testing at the 2000/01 clinic visit...
October 1, 2017: Experimental Gerontology
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