Results 51 to 60 of about 8,171 (275)

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. [PDF]

, 2016
BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration ...
A Boizot, AK Asbury, Andrew H. Crosby, Aviva Mimouni-Bloch, Barry A. Chioza, BL Johnson-Kerner, BO Berg, E Allen, E Sobel, F Hentati, G Kuhlenbaumer, Gaurav V. Harlalka, IA Adzhubei, JJ Kang, Katy E. S. Barwick, LA Roth, M Abu-Rashid, M Furukawa, M Tazir, Meriel M. McEntagart, Michael Weedon, O Koop, P Bomont, P Bomont, R Zemmouri, Rachel Straussberg, S Mahammad, Sharon Aharoni, VC Cullen, Y Choi, Yoram Nevo   +30 more
core   +1 more source

The Neurophysiologic Frequency of Hereditary Neuropathy with Liability to Pressure Palsy in Entrapment Neuropathies

Türk Nöroloji Dergisi, 2016
Objective: Hereditary neuropathy with liability to pressure palsy (HNPP) needs to be differentiated from entrapment neuropathies due to differences in the treatment management.
F Gökçem Yıldız, Gülay Nurlu, Sevim Erdem Özdamar, Çağrı Mesut Temuçin   +3 more
doaj   +1 more source

Clinical characteristics of anti‐neurofascin 155 antibody‐positive autoimmune nodopathy in children

Pediatric Investigation, EarlyView.
Pediatric anti‐neurofascin 155 antibody autoimmune nodopathy was uncommon, featuring distal limb weakness with sensory symptoms. Cerebrospinal fluid protein levels were elevated, and neuroimaging revealed nerve root thickening. As intravenous immunoglobulin was ineffective, early immunosuppressive therapy was recommended.
Liya Cui, Shuai Gong, Yongxiang Zhao, Siwei Wang, Xinying Yang, Shen Zhang, Weihua Zhang, Jiuwei Li, Bingbing Jia, Xiaona Fu, Lin Ge, Junlan Lv, Yun Peng, Hui Xiong   +13 more
wiley   +1 more source

Kubitaalkanali sündroom [PDF]

, 2013
Kubitaalkanali sündroom (KuKS) on n. ulnaris’el (küünarluunärv, ulnaarnärv) kõige sagedamini esinev perifeerse närvi kompressioonisündroom. Karpaalkanali sündroomi järel on see teine enam levinud perifeerse närvi kompressioonisündroom üldse.
Kõiv, Kennet, Kõiv, Leho
core   +2 more sources

Spontaneous Diabetic Myonecrosis Presenting as Acute Carpal Tunnel Syndrome

Journal of Hand Surgery Global Online, 2022
A 57-year-old man with diabetes mellitus presented with a 4-day history of left palm pain out of proportion, with swelling, erythema, and dense median and ulnar nerve distribution sensory changes.
Farhan Ahmad, BS, Joseph Michalski, MPH, MS, Matthew Winterton, MD, Xavier Simcock, MD, Robert W. Wysocki, MD   +4 more
doaj  

Sonographic Imaging of the Superficial Radial Nerve and its Branches: A Pictorial Review

Sonography, EarlyView.
ABSTRACT Entrapment of the superficial radial nerve (SRN) can be a source of radial wrist, dorsal hand, and thumb pain which can be challenging to clinically differentiate from other pathological entities. Ultrasound allows direct visualization of the SRN and its branches as well as the assessment of the site, extent, and type of nerve injury or ...
Michelle Fenech, Jodie Gallagher, Andrew Grant   +2 more
wiley   +1 more source

Clinical neurophysiology and imaging of nerve injuries: preoperative diagnostic work-up and postoperative monitoring [PDF]

, 2015
Peripheral nerve injuries are a heterogeneous group of lesions that may occurs secondary to various causes. Several different classifications have been used to describe the pathophysiological mechanisms leading to the clinical deficit, from simple and ...
CILLINO, Michele, Gagliardo, A., MAGGI', Francesco, Mariolo, A. V., MOSCHELLA, Francesco, TOIA, Francesca   +5 more
core   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

High resolution ultrasonography of peripheral nerves: measurements on 14 nerve segments in 56 healthy subjects and reliability assessments. [PDF]

, 2014
Purpose: The aim of this study was to assess different aspects of reliability in high-resolution ultrasonography (HRUS) of the peripheral nerves and to establish reference values for the most frequently examined nerve segments. Materials and Methods:
Arányi, Zsuzsanna, Bereczki, Dániel, Böhm, József, Scheidl, Erika, Schelle T   +4 more
core   +1 more source

Patient positioning on the operating table and patient safety: A systematic review and meta‐analysis

Journal of Advanced Nursing, EarlyView.
Abstract Aim To identify occurrence of harmful incidents related to patient positioning on operating table. Design Systematic review and meta‐analysis. Data Sources Eight databases including Ovid, Medline, Embase, CINAHL, the Cochrane Library, Epistemonikos, Scopus, Web of Science and Google Scholar were systematically searched from the inception of ...
Signe Berit Bentsen, Geir Egil Eide, Siri Wiig, Tone Rustøen, Cathrine Heen, Benedikte Bjøro   +5 more
wiley   +1 more source