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https://www.readbyqxmd.com/read/29341354/a-mutation-in-the-heptad-repeat-2-domain-of-mfn2-in-a-large-cmt2a-family
#1
Lois Dankwa, Jessica Richardson, William W Motley, Stephan Züchner, Steven S Scherer
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29341326/elevated-leukocyte-count-in-cerebrospinal-fluid-of-patients-with-chronic-inflammatory-demyelinating-polyneuropathy
#2
Ilse M Lucke, Stojan Peric, Gwen G A van Lieverloo, Luuk Wieske, Camiel Verhamme, Ivo N van Schaik, Ivana Basta, Filip Eftimov
Cerebrospinal fluid (CSF) examination is often part of the diagnostic work-up of a patient suspected of having chronic inflammatory demyelinating polyneuropathy (CIDP). According to the EFNS/PNS criteria, an elevated protein level without pleocytosis (leukocytes <10 cells/μl) is supportive of the diagnosis CIDP. It is unclear how many CSF leukocytes are compatible with the diagnosis CIDP and how extensive the diagnostic work-up should be in patients with a demyelinating neuropathy and pleocytosis. We performed a retrospective study at two tertiary neuromuscular referral clinics and identified 14 out of 273 (6%) patients with CIDP with elevated CSF leukocytes (≥10 cells/μl)...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29334857/association-of-neutrophil-lymphocyte-ratio-with-intravenous-immunoglobulin-treatment-in-children-with-guillain-barr%C3%A3-syndrome
#3
Ezgi Altuntas Hüner, Alper I Dai, Abdullah T Demiryürek
Guillain-Barré syndrome (GBS) is an acute immune-mediated inflammatory polyneuropathy of the peripheral nervous system. The authors aimed to investigate whether the neutrophil/lymphocyte (N/L) and platelet/lymphocyte (P/L) ratios are the parameters that associated with the drug treatment or severity of GBS. Twenty-seven children with GBS were retrospectively analyzed from the medical records of patients who attended to the Pediatric Neurology Department of the Gaziantep University Hospital. Biochemical and hematologic parameters were measured...
February 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29332184/neurologic-complications-of-immune-checkpoint-inhibitors
#4
Avi Fellner, Chen Makranz, Michal Lotem, Felix Bokstein, Alisa Taliansky, Shai Rosenberg, Deborah T Blumenthal, Jacob Mandel, Suzana Fichman, Elena Kogan, Israel Steiner, Tali Siegal, Alexander Lossos, Shlomit Yust-Katz
Immune checkpoint inhibitors (ICPIs) have recently emerged as a novel treatment for cancer. These agents, transforming the field of oncology, are not devoid of toxicity and cause immune-related side effects which can involve any organ including the nervous system. In this study, we present 9 patients (7 men and 2 women) with neurologic complications secondary to ICPI treatment. These included meningoencephalitis, limbic encephalitis, polyradiculitis, cranial polyneuropathy, myasthenic syndrome and myositis...
January 13, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29330601/assessment-of-vestibular-evoked-myogenic-potentials-and-video-head-impulse-test-in-type-2-diabetes-mellitus-patients-with-or-without-polyneuropathy
#5
Mehmet Kalkan, Ali Bayram, Ferhat Gökay, Hasan Selçuk Cura, Cemil Mutlu
This study aimed to compare cervical vestibular-evoked myogenic potentials (cVEMP), ocular vestibular-evoked myogenic potentials (oVEMP) and video head impulse test (vHIT) results between patients with type 2 diabetes mellitus (DM) or diabetic polyneuropathy (DPN) and healthy controls to determine vestibular end-organ pathologies. The participants in the present study consisted of three groups: the type 2 DM group (n = 33 patients), the DPN group (n = 33 patients), and the age- and sex-matched control group (n = 35)...
January 13, 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29330472/amyloid-deposition-in-a-mouse-model-humanized-at-the-transthyretin-and-retinol-binding-protein-4-loci
#6
Xiangshun Li, Yanyi Lyu, Jingling Shen, Yanshuang Mu, Lixia Qiang, Li Liu, Kimi Araki, Bruno P Imbimbo, Ken-Ichi Yamamura, Shoude Jin, Zhenghua Li
Familial amyloidotic polyneuropathy is an autosomal dominant disorder caused by a point mutation in the transthyretin (TTR) gene. The process of TTR amyloidogenesis begins with rate-limiting dissociation of the TTR tetramer. Thus, the TTR stabilizers, such as Tafamidis and Diflunisal, are now in clinical trials. Mouse models will be useful to testing the efficacy of these drugs. Although several mouse models have been generated, they all express mouse Rbp4. Thus, human TTR associates with mouse RBP4, resulting in different kinetic and thermodynamic stability profiles of TTR tetramers...
January 12, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29329712/risk-factors-and-frequency-of-ingrown-nails-in-adult-diabetic-patients
#7
Secil Vural, Seher Bostanci, Pelin Koçyigit, Deniz Çaliskan, Nilgun Baskal, Nursel Aydin
The present study evaluated the properties of nails, frequency of ingrown nails in patients with type 2 diabetes mellitus (DM), risk factors for developing ingrown nails, and effect of diabetic polyneuropathy and vasculopathy on the development and outcome of ingrown nails. Our 6-month epidemiologic prospective study included 300 patients with type 2 DM attending a DM outpatient clinic for routine examinations. The general characteristics and foot changes of the study population were investigated. Diabetic polyneuropathy and vasculopathy were evaluated using a biothesiometer, monofilament tests, and arterial Doppler ultrasonography...
January 10, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29329103/analysis-of-anti-ganglioside-antibodies-by-a-line-immunoassay-in-patients-with-chronic-inflammatory-demyelinating-polyneuropathies-cidp
#8
Juliane Klehmet, Stefanie Märschenz, Klemens Ruprecht, Benjamin Wunderlich, Thomas Büttner, Rico Hiemann, Dirk Roggenbuck, Andreas Meisel
BACKGROUND: Unlike for acute immune-mediated neuropathies (IN), anti-ganglioside autoantibody (aGAAb) testing has been recommended for only a minority of chronic IN yet. Thus, we used a multiplex semi-quantitative line immunoassay (LIA) to search for aGAAb in chronic-inflammatory demyelinating polyneuropathy (CIDP) and its clinical variants. METHODS: Anti-GAAb to 11 gangliosides and sulfatide (SF) were investigated by LIA in 61 patients with IN (27 typical CIDP, 12 distal-acquired demyelinating polyneuropathy, 6 multifocal-acquired demyelinating sensory/motor polyneuropathy, 10 sensory CIDP, 1 focal CIDP and 5 multifocal-motoric neuropathy), 40 with other neuromuscular disorders (OND) (15 non-immune polyneuropathies, 25 myasthenia gravis), 29 with multiple sclerosis (MS) and 54 healthy controls (HC)...
January 12, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29328996/acute-and-sub-acute-neurological-toxicity-in-children-treated-for-acute-lymphoblastic-leukemia
#9
REVIEW
Natalia C Millan, Analía Pastrana, Myriam R Guitter, Pedro A Zubizarreta, María S Monges, María S Felice
Eighty percent of children with acute lymphoblastic leukemia (ALL) survive with current treatments. Neurotoxicity is an infrequent adverse event. We describe clinical presentations of neurological toxicity, phases of treatment when these adverse events were more frequent and patients ́ outcome. From January-1995 to December-2015, 1379 ALL cases were admitted. Neurotoxicity was diagnosed in 49 patients (3.6%) and classified according to neurological syndromes. Medical records, laboratory-tests and images were reviewed...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29326294/guillain-barr%C3%A3-syndrome-in-southern-china-retrospective-analysis-of-hospitalised-patients-from-14-provinces-in-the-area-south-of-the-huaihe-river
#10
Shuping Liu, Zheman Xiao, Min Lou, Fang Ji, Bei Shao, Hongyuan Dai, Can Luo, Bo Hu, Ruiling Zhou, Zhangyu Zou, Jing Li, Xiaoyi Li, Jun Xu, Fan Hu, Chao Qin, Lian Wang, Tao Liu, Runtao Bai, Yangmei Chen, Haiyan Lv, Ruxu Zhang, Xiaoming Wang, Yunfu Wang, Shanling Ren, Xiaoming He, Zhenwei Jiang, Huiwen Wu, Donghui Yu, Wenqiong Yang, Wenjing Luo, Daokai Gong, Bin Chen, Yin Liu, Jiajia Yao, Yujie Yang, Jingxia Guan, Mingzhen Zhu, Xiujuan Fu, Genshan Gao, Hong Zhang, Man Ding, Shanghua Fan, Qian Cao, Jingyi Lu, Zuneng Lu
OBJECTIVES: The clinical and epidemiological profiles of Guillain-Barré syndrome (GBS) in southern China have yet to be fully recognised. We aimed to investigate the subtypes of GBS in southern China, compare the clinical features of demyelinating form with that of axonal form and test whether preceding infections and age have influence on the clinical phenotype, disease course and severity of GBS. METHODS: Medical records of patients with a diagnosis of GBS admitted to 31 tertiary hospitals, located in 14 provinces in southern China, from 1 January 2013 to 30 September 2016, were collected and retrospectively reviewed...
January 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29326035/myoclonus-in-the-elderly-a-retrospective-analysis-of-clinical-and-electrophysiological-characteristics-of-patients-referred-to-an-electrophysiology-laboratory
#11
Meral E Kiziltan, Aysegul Gunduz, Melih Tutuncu, Sibel Ertan, Hulya Apaydin, Gunes Kiziltan
BACKGROUND AND OBJECTIVE: Late-onset myoclonus in the elderly is mainly related to dementia or systemic disease. In this report, we aimed to investigate the clinical and electrophysiological features of patients with late-onset myoclonus. PATIENTS AND METHOD: We retrospectively assessed the medical records of patients who were referred to our electromyography laboratory. From these records, we included all patients who had myoclonus which started after the age of 60 years and in whom it was confirmed by polymyography...
December 26, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29325611/autosomal-recessive-cerebellar-ataxias
#12
Brent L Fogel
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29322703/impact-of-electrophysiological-and-clinical-variants-and-timing-of-plasmapheresis-on-outcome-of-guillain-barr%C3%A3-syndrome
#13
Bipin Amin, Himanshu Meghnathi, M D Gajjar, Tarak Patel, Jignesh Vanani, Nidhi Gupta, Anil Chauhan
Introduction: Guillain-Barré syndrome (GBS) is an autoimmune polyneuropathy causing acute flaccid paralysis and it is known to improve with plasmapheresis. Objective: To study effects of electrophysiological type of GBS, clinical variant of GBS and time taken for initiation of plasmapheresis on outcome of disease. Methods: 50 consecutive patients of GBS attending tertiary care hospital underwent clinical examination and electrophysiological studies...
November 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29314079/the-high-frequency-of-monoclonal-gammopathy-in-patients-with-diabetic-sensorimotor-polyneuropathy
#14
Alon Abraham, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, A Perkins Bruce, Vera Bril
INTRODUCTION: Monoclonal gammopathy has been reported in several polyneuropathies. In this study, we aimed to explore the frequency and characteristics of monoclonal gammopathy in patients with diabetic sensorimotor polyneuropathy (DSP). METHODS: Patients with type 1 and 2 diabetes mellitus (DM 1, DM 2), and controls without diabetes, were evaluated between November 2008 and December 2013. RESULTS: 50 controls, 66 patients with DM 1, and 106 patients with DM 2, were included, with an average age of 43 ± 18, 45 ± 17, and 65 ± 10 years respectively...
January 4, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29313871/standing-postural-reaction-to-visual-and-proprioceptive-stimulation-in-chronic-acquired-demyelinating-polyneuropathy
#15
Clement P Provost, Sophie Tasseel-Ponche, Pierre Lozeron, Giulia Piccinini, Victorine Quintaine, Bertrand Arnulf, Nathalie Kubis, Alain P Yelnik
OBJECTIVE: To investigate the weight of visual and proprioceptive inputs, measured indirectly in standing position control, in patients with chronic acquired demyelinating polyneuropathy (CADP). DESIGN: Prospective case study. SUBJECTS: Twenty-five patients with CADP and 25 healthy controls. METHODS: Posture was recorded on a double force platform. Stimulations were optokinetic (60°/s) for visual input and vibration (50 Hz) for proprioceptive input...
January 9, 2018: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29310464/annals-express-unwanted-road-to-anemia-in-transthyretin-familial-amyloid-polyneuropathy-may-continue-irrespective-of-tafamidis-treatment
#16
Tokunori Ikeda, Teruaki Masuda, Mitsuharu Ueda, Taro Yamashita, Yohei Misumi, Satoru Shinriki, Yukio Ando
BACKGROUND: This retrospective longitudinal study was performed to determine whether tafamidis treatment leads to improvements in commonly used blood data for transthyretin familial amyloid polyneuropathy (TTR-FAP). METHODS: Commonly used blood data (complete blood count [including a hemogram], total protein, albumin, blood urea nitrogen, creatinine, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, γ-glutamyl transpeptidase, total bilirubin [T-Bil], creatine kinase, choline esterase, high density lipoprotein cholesterol, low density lipoprotein cholesterol, estimated glomerular filtration rate [eGFR], serum amyloid A protein, TTR, hemoglobin A1c, free triiodothyronine [FT3], and free thyroxine [FT4]) were investigated in 33 TTR-FAP patients...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29309384/toe-walking-a-neurological-perspective-after-referral-from-pediatric-orthopaedic-surgeons
#17
Katherine B Haynes, Robert L Wimberly, Jonathan M VanPelt, Chan-Hee Jo, Anthony I Riccio, Mauricio R Delgado
BACKGROUND: Toe walking (TW) in children is often idiopathic in origin. Our purpose was to determine the incidence of a neurological etiology for TW in patients seen in the neurology clinic after referral from pediatric orthopaedic surgeons. METHODS: We performed an Institutional Review Board approved retrospective review of 174 patients referred to the neurology clinic from orthopaedic surgeons at an academic pediatric tertiary care center between January 2010 and September 2015...
January 5, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29306858/guillain-barr%C3%A3-syndrome-with-exaggerated-pleocytosis-and-anti-gm1-ganglioside-antibodies
#18
Gabriel T Doctor, Sian K Alexander, Aleksandar Radunovic
An 81-year-old man presented with fever, confusion and rapidly-progressive flaccid tetraparesis. Clinical presentation and neurophysiology were consistent with a severe axonal polyneuropathy. Anti-GM1 and Campylobacter serology were both positive, consistent with postinfectious axonal-variant Guillain-Barré syndrome (GBS). GBS is characterised by albuminocytological dissociation, where an elevated protein and acellular cerebrospinal fluid are typical. However, in this case, CSF analysis revealed an exaggerated pleocytosis (72 white blood cells (WBC)/mm3)...
January 6, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29305208/vestibulo-cochlear-function-in-inflammatory-neuropathies
#19
Marisa Blanquet, Jens A Petersen, Antonella Palla, Dorothe Veraguth, Konrad P Weber, Dominik Straumann, Alexander A Tarnutzer, Hans H Jung
OBJECTIVE: We aimed to quantify peripheral-vestibular deficits that may contribute to imbalanced stance/gait in patients with inflammatory neuropathies. METHODS: Twenty-one patients (58 ± 15 y [mean age ± 1SD]; chronic-inflammatory-demyelinating-polyneuropathy = 10, Guillain-Barré Syndrome = 5, Anti-MAG peripheral neuropathy = 2, multifocal-motor-neuropathy = 4) were compared with 26 healthy controls. All subjects received video-head-impulse testing (vHIT), caloric irrigation and cervical/ocular vestibular-evoked myogenic-potentials (VEMPs)...
December 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29301549/icu-acquired-weakness-should-medical-sovereignty-belong-to-any-specialist
#20
Domenico Intiso
ICU-acquired weakness (ICUAW), including critical illness polyneuropathy, critical illness myopathy, and critical illness polyneuropathy and myopathy, is a frequent disabling disorder in ICU subjects. Research has predominantly been performed by intensivists, whose efforts have permitted the diagnosis of ICUAW early during an ICU stay and understanding of several of the pathophysiological and clinical aspects of this disorder. Despite important progress, the therapeutic strategies are unsatisfactory and issues such as functional outcomes and long-term recovery remain unclear...
January 4, 2018: Critical Care: the Official Journal of the Critical Care Forum
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