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Sensorimotor polyneuropathy

Marie Lumeau, Mathieu Lempereur, Emmanuel Sonnet, Olivier Remy Neris
OBJECTIVE: Distal sensorimotor polyneuropathy (DPN) is a leading risk factor of developing ulcer, including increased pressures at the forefoot. The rocker sole shoes are prescribed to decrease pressures but could induce instability [1]. The aim of this study was to compare the postural stability between normal shoes (NS) and rocker sole shoes (RSS) in patients with type 2 diabetes and DPN. MATERIAL/PATIENTS AND METHODS: In this preliminary, randomized, controlled study, NS and RSS were compared during static standing and gait...
September 2016: Annals of Physical and Rehabilitation Medicine
Katherine Power, Steven A Sparr
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Semiha Kurt, Betul Cevik, Durdane Aksoy, E Irmak Sahbaz, Aslı Gundogdu Eken, A Nazli Basak
Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient...
2016: Case Reports in Neurological Medicine
Vikram A Londhey
SLE (systemic lupus erythematosus) is a multisystem autoimmune disorder of unknown aetiology which can present with myriad clinical presentation. The neurological manifestations of SLE consist of central nervous system (CNS) and peripheral nervous system manifestations (PNS). The CNS manifestations are aseptic meningitis, cerebrovascular accidents (stroke), demyelinating disorders, headache, involuntary movements like chorea, myelopathy, acute confusional states, cognitive dysfunction, mood disorder, seizures, psychosis and cranial nerve palsies...
December 2015: Journal of the Association of Physicians of India
Ernesto Maddaloni, Francesco Sabatino
In vivo corneal confocal microscopy (IVCCM) is a novel, reproducible, easy and noninvasive technique that allows the study of the different layers of the cornea at a cellular level. As cornea is the most innervated organ of human body, several studies investigated the use of corneal confocal microscopy to detect diabetic neuropathies, which are invalidating and deadly complications of diabetes mellitus. Corneal nerve innervation has been shown impaired in subjects with diabetes and a close association between damages of peripheral nerves due to the diabetes and alterations in corneal sub-basal nerve plexus detected by IVCCM has been widely demonstrated...
September 15, 2016: World Journal of Diabetes
Benedetta Miglino, Michele Viana, Rossana Tiberio, Paolo Boggio, Guido Valente, Gionata Strigaro, Enrico Colombo
The authors report a case of sensorimotor polyneuropathy, diffuse hemangiomas and monoclonal gammopathy. Besides weight loss, there were diabetes mellitus and severe hypothyroidism. These alterations were consistent with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes) syndrome, which is a rare systemic disease with monoclonal proliferation of plasmacytes and slow progression. Because of its rarity, the incidence of this disease is still unknown.
September 15, 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo
OBJECTIVE: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS: We collected DNA samples of 28 family members, including 7 living affected individuals, whose clinical records were reviewed by a neurologist experienced in ataxia. We combined linkage data of 21 family members with whole exome sequencing in 2 affected individuals to identify shared heterozygous variants mapping to potentially linked regions...
October 2016: Neurology. Genetics
Vinod Puri, Ashish Kumar Duggal, Neera Chaudhry
A, 21-years-old, male, presented with acute onset, gradually progressive, predominantly distal, symmetrical weakness of both upper and lower limbs with arreflexia. He had impaired sensations in glove and stocking distribution with distal gradient. He was found to have absolute CD4 + cell count of 188 cells/μL, absolute CD8 cell count, 532 cells/μL and CD4: CD8 ratio of 0.35. Electrophysiology revealed reduced to absent CMAP amplitude as well as SNAPs in various nerves of upper and lower limbs, along with normal conduction velocity and normal F wave latencies...
July 2016: Annals of Indian Academy of Neurology
Anish Lawrence, Madhu Nagappa, Anita Mahadevan, Arun B Taly
OBJECTIVE: To describe clinical, electrophysiological, and histopathological profile of vasculitic neuropathy in elderly subjects aged 65 years or more. DESIGN: Retrospective chart review. SETTING: Departments of Neurology and Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. PATIENTS AND METHODS: Elderly subjects, diagnosed vasculitic neuropathy by nerve biopsy over one decade, were studied...
July 2016: Annals of Indian Academy of Neurology
Wendy K M Liew, Christina A Pacak, Nicole Visyak, Basil T Darras, Athos Bousvaros, Peter B Kang
OBJECTIVE: To characterize the longitudinal clinical and electrophysiological patterns of thalidomide neuropathy in children and adolescents. STUDY DESIGN: Retrospective analysis of clinical records at a tertiary care children's hospital, including serial electrophysiological studies. RESULTS: Sixteen patients aged 6-24 years received thalidomide to treat Crohn's disease from 2002 to 2012. Nine subjects had electrophysiological evidence of sensorimotor axonal polyneuropathy, 8 of whom had sensory and/or motor symptoms...
August 24, 2016: Journal of Pediatrics
Haris Hakeem, Masood Uz Zaman, Sara Khan
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) carries a grim prognosis. Various ALS mimics have been reported and should be excluded before confirming this diagnosis. METHODS: We report the case of a 61-year-old man who presented with progressively worsening limb weakness and dysphagia. His examination showed mixed upper and lower motor neuron signs without sensory impairment. ALS was suspected, however atypical diffuse pain prompted diagnostic work-up to exclude other causes...
August 12, 2016: Muscle & Nerve
Christeen Ramane J Pedurupillay, Silja S Amundsen, Tuva Barøy, Magnhild Rasmussen, Anne Blomhoff, Barbro Fossøy Stadheim, Kristin Ørstavik, Asbjørn Holmgren, Tahir Iqbal, Eirik Frengen, Doriana Misceo, Petter Strømme
Biallelic mutations in IGHMBP2 cause spinal muscular atrophy with respiratory distress type 1 (SMARD1) or Charcot-Marie-Tooth type 2S (CMT2S). We report three families variably affected by IGHMBP2 mutations. Patient 1, an 8-year-old boy with two homozygous variants: c.2T>C and c.861C>G, was wheelchair bound due to sensorimotor axonal neuropathy and chronic respiratory failure. Patient 2 and his younger sister, Patient 3, had compound heterozygous variants: c.983_987delAAGAA and c.1478C>T. However, clinical phenotypes differed markedly as the elder with sensorimotor axonal neuropathy had still unaffected respiratory function at 4...
September 2016: Neuromuscular Disorders: NMD
Samar M Hammad, Nathaniel L Baker, Jad M El Abiad, Stefanka D Spassieva, Jason S Pierce, Barbara Rembiesa, Jacek Bielawski, Maria F Lopes-Virella, Richard L Klein
Plasma deoxy-sphingoid bases are elevated in type 2 diabetes patients and correlate with the stage of diabetic distal sensorimotor polyneuropathy; however, associations between deoxy-sphingolipids (DSL) and neuropathy in type 1 diabetes have not been examined. The primary aim of this exploratory pilot study was to assess the associations between multiple sphingolipid species including DSL and free amino acids and the presence of symptomatic neuropathy in a DCCT/EDIC type 1 diabetes subcohort. Using mass spectroscopy, plasma levels of DSL and free amino acids in DCCT/EDIC type 1 diabetes participants (n = 80), with and without symptoms of neuropathy, were investigated...
July 7, 2016: Neuromolecular Medicine
Antoine Rousseau, Cecile Cauquil, Benedicte Dupas, Antoine Labbé, Christophe Baudouin, Emmanuel Barreau, Marie Théaudin, Catherine Lacroix, Anne Guiochon-Mantel, Anouar Benmalek, Marc Labetoulle, David Adams
IMPORTANCE: Small fiber neuropathy (SFN) is an important feature of transthyretin familial amyloid polyneuropathy (TTR-FAP). A practical and objective method for the clinical evaluation of SFN is needed to improve the management of this disease. In vivo confocal microscopy (IVCM) of the corneal nerves, a rapid noninvasive technique, may be used as a surrogate marker of SFN. OBJECTIVE: To determine the correlation of SFN with IVCM in patients with TTR-FAP. DESIGN, SETTING, AND PARTICIPANTS: A prospective, single-center, cross-sectional controlled study was conducted at the French National Reference Center for TTR-FAP from June 1, 2013, to June 30, 2014...
September 1, 2016: JAMA Ophthalmology
Ari Breiner, Mohammad Qrimli, Hamid Ebadi, Majed AlAbdali, Leif E Lovblom, Alon Abraham, Hana Albulahi, Bruce A Perkins, Vera Bril
BACKGROUND: High-resolution ultrasound (HRU) is used in the diagnosis of peripheral neuropathies. There are conflicting data regarding HRU findings in patients with diabetic sensorimotor polyneuropathy (DSP). OBJECTIVES: To measure nerve cross-sectional areas (CSA) in patients with diabetes, with and without DSP. METHODS: We performed a prospective peripheral nerve HRU study of 100 diabetic subjects, assessed the CSA at predefined sites and compared the results to 100 normal subjects...
June 16, 2016: Muscle & Nerve
Xin Chen, Jim Graham, Mohammad Dabbah, Ioannis Petropoulos, Mitra Tavakoli, Rayaz Malik
OBJECTIVE: We describe and evaluate an automated software tool for nerve fibre detection and quantification in corneal confocal microscopy (CCM) images, combining sensitive nerve-fibre detection with morphological descriptors. METHOD: We have evaluated the tool for quantification of Diabetic Sensorimotor Polyneuropathy (DSPN) using both new and previously published morphological features. The evaluation used 888 images from 176 subjects (84 controls and 92 patients with Type 1 diabetes)...
June 7, 2016: IEEE Transactions on Bio-medical Engineering
A L Zygulska, M Banach, K Krzemieniecki
Cold-induced neuropathy is the most observed side effect of oxaliplatin. Presence of neuropathy is routinely assessed by electroneurographical examination. The use of electroneurography has not been a part of typical oncological monitoring and treatment protocols, leading to untreated, irreversible damage to patients' peripheral nerves, undiagnosed for long periods of time. 36 colorectal cancer patients followed FOLFOX4 with/without bevacizumab or XELOX were enrolled between February 2013 and January 2015 in the study at the University Hospital Oncological Department, Krakow, Poland...
2016: Neoplasma
Marcus Kühn, Kety Sammartin, Mitja Nabergoj, Fabrizio Vianello
Peripheral neuropathy is a common complication of arsenic toxicity. Symptoms are usually mild and reversible following discontinuation of treatment. A more severe chronic sensorimotor polyneuropathy characterized by distal axonal-loss neuropathy can be seen in chronic arsenic exposure. The clinical course of arsenic neurotoxicity in patients with coexistence of thiamine deficiency is only anecdotally known but this association may potentially lead to severe consequences. We describe a case of acute irreversible axonal neuropathy in a patient with hidden thiamine deficiency who was treated with a short course of arsenic trioxide for acute promyelocytic leukemia...
2016: Mediterranean Journal of Hematology and Infectious Diseases
Jinho Lee, Sung-Chul Jung, Young Bin Hong, Jeong Hyun Yoo, Heasoo Koo, Ja Hyun Lee, Hyun Dae Hong, Sang-Beom Kim, Ki Wha Chung, Byung-Ok Choi
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, ataxia and peripheral neuropathy. The present study describes a 10-year-old boy with Behr syndrome presenting with early‑onset severe optic atrophy, sensorimotor neuropathy, ataxia and congenital cataracts...
July 2016: Molecular Medicine Reports
V Bril
Multiple phase III clinical trials have failed to show disease-modifying benefits for diabetic sensorimotor polyneuropathy (DSP) and this may be due to the design of the clinical trials. The perfect clinical trial in DSP would enroll sufficiently large numbers of patients having early or minimal disease, as demonstrated by nerve conduction studies (NCS). These patients would be treated with an intervention given at an effective and well-tolerated dose for a sufficient duration of time to show change in the end points selected...
2016: International Review of Neurobiology
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