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https://www.readbyqxmd.com/read/29321516/clinical-and-mutational-spectrum-of-japanese-patients-with-recessive-variants-in-sh3tc2
#1
Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Masahiro Ando, Kazutaka Shiomi, Kayoko Saito, Makoto Takahashi, Keiko Ichinose, Takuma Ohmichi, Kazushi Ichikawa, Adachi Tadashi, Hiroshi Takigawa, Hidehiro Shibayama, Hiroshi Takashima
SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven patients with demyelinating CMT, we identified eight recessive variants in the SH3TC2 gene, consisting of five novel (pathogenic/likely pathogenic) and three reported variants...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29298213/electrophysiology-of-cranial-nerve-testing-spinal-accessory-and-hypoglossal-nerves
#2
Amro M Stino, Benn E Smith
Multiple techniques have been developed for the electrodiagnostic evaluation of cranial nerves XI and XII. Each of these carries both benefits and limitations, with more techniques and data being available in the literature for spinal accessory than hypoglossal nerve evaluation. Spinal accessory and hypoglossal neuropathy are relatively uncommon cranial mononeuropathies that may be evaluated in the outpatient electrodiagnostic laboratory setting. A review of available literature using PubMed was conducted regarding electrodiagnostic technique in the evaluation of spinal accessory and hypoglossal nerves searching for both routine nerve conduction studies and repetitive nerve conduction studies...
January 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/29296634/anterior-interosseous-mononeuropathy-associated-with-hev-infection
#3
Bart Swinnen, Steven Boeynaems, Maarten Schrooten, Veroniek Saegeman, Kristl G Claeys, Philip Van Damme
No abstract text is available yet for this article.
March 2018: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29217421/isolated-suprascapular-mononeuropathy-following-nondisplaced-scapular-fracture
#4
Marcin Kowalczuk, Albert Lin
No abstract text is available yet for this article.
December 5, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/29214617/gehs-neurophysiological-classification-system-for-patients-with-neuropathy-of-the-ulnar-nerve-at-the-elbow
#5
David G Greathouse, Greg Ernst, John S Halle, Scott W Shaffer
BACKGROUND: Neuropathy of the ulnar nerve at the elbow is one of a number of muscle-related and nerve-related disorders that affect people performing intensive work with their hands and upper extremities, and is the second most prevalent peripheral nerve mononeuropathy. There are several classification systems currently being used by the medical community for patients with neuropathy of the ulnar nerve at the elbow. However, few of these classification systems include the clinical electrophysiologic parameters nerve conduction (NCS) and electromyographic (EMG) studies...
October 2017: U.S. Army Medical Department Journal
https://www.readbyqxmd.com/read/29189555/what-is-in-the-literature
#6
Mark B Bromberg
This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (MMND)], and childhood forms [spinal muscle atrophy (SMA)].
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29176796/revisiting-primary-neural-leprosy-clinical-serological-molecular-and-neurophysiological-aspects
#7
Diogo Fernandes Dos Santos, Matheus Rocha Mendonça, Douglas Eulálio Antunes, Elaine Fávaro Pípi Sabino, Raquel Campos Pereira, Luiz Ricardo Goulart, Isabela Maria Bernardes Goulart
BACKGROUND: Leprosy neuropathy is considered the most common peripheral neuropathy of infectious etiology worldwide, representing a public health problem. Clinical diagnosis of primary neural leprosy (PNL) is challenging, since no skin lesions are found and the slit skin smear bacilloscopy is negative. However, there are still controversial concepts regarding the primary-neural versus pure-neural leprosy definition, which will be explored by using multiple clinical-laboratory analyses in this study...
November 27, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29118955/effect-of-electrical-stimulation-on-motor-nerve-regeneration-in-sciatic-nerve-ligated-mice
#8
Farzaneh Samiee, Mohammad-Reza Zarrindast
The purpose of this study was to investigate the effect of electrical stimulation on sciatic nerve regeneration and functional recovery of target muscles. Mice were randomly divided into 3 groups: ligated without electrical stimulation, ligated with electrical stimulation and control (non-ligated). The unilateral peripheral mononeuropathy was produced on the right hind limb. Sciatic nerve was then electrically stimulated daily for a period of 2 weeks (duration: 0.2 msec, frequency: 100Hz, amplitude: 15mA). Evoked surface EMG was recorded from biceps femoris (BF) and gluteus maximus (GM) muscles on the 3rd, 7th, 10th and 14th day after sciatic nerve ligation...
June 27, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29109739/a-case-of-polyarteritis-nodosa-presenting-as-rapidly-progressing-intermittent-claudication-of-right-leg
#9
Chathuranga Lakmal Fonseka, Sampath Rukshani Galappaththi, Dayakshi Abeyaratne, Nirmali Tissera, Lalith Wijayaratne
Background: Polyarteritis nodosa (PAN) is a medium vessel vasculitis which causes significant morbidity and mortality. Usually, it presents with constitutional symptoms with angiographic evidence of aneurysms or segmental stenosis of arteries of mesenteric or renal vasculature. It is exceedingly uncommon for PAN to present with symptomatic progressive intermittent claudication. Case Presentation: We describe a 60-year-old male who presented with rapidly progressive intermittent claudication of his right leg...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/29082637/peripheral-nerve-stimulation-for-painful-mononeuropathy-secondary-to-leprosy-a-12-month-follow-up-study
#10
Tiago da Silva Freitas, Erich Talamoni Fonoff, Oswaldo Ribeiro Marquez Neto, Iruena Moraes Kessler, Laura Mendes Barros, Ronan Wilk Guimaraes, Monalisa Ferreira Azevedo
OBJECTIVE: Leprosy affects approximately 10-15 million patients worldwide and remains a relevant public health issue. Chronic pain secondary to leprosy is a primary cause of morbidity, and its treatment remains a challenge. We evaluated the feasibility and safety of peripheral nerve stimulation (PNS) for painful mononeuropathy secondary to leprosy that is refractory to pharmacological therapy and surgical intervention (decompression). METHODS: Between 2011 and 2013 twenty-three patients with painful mononeuropathy secondary to leprosy were recruited to this prospective case series...
October 29, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29078790/hereditary-neuropathy-with-liability-to-pressure-palsy-hnpp-report-of-a-family-with-a-new-point-mutation-in-pmp22-gene
#11
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. CASE PRESENTATION: We report on a familial case harbouring a new point mutation in the PMP22 gene...
October 27, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29042820/necrobiotic-xanthogranuloma-scleritis-in-a-case-of-granulomatosis-with-polyangiitis-wegener-s-granulomatosis
#12
Narumon Keorochana, Kanaspana Klanarongran, Kantang Satayasoontorn, Sumapa Chaiamnuay
The purpose of this study was to describe a case of necrobiotic xanthogranuloma scleritis in a 53-year-old male with unilateral progressive visual loss, scleritis, prolonged fever, and multiple mononeuropathy. Scleral biopsy showed necrosis with small abscess, and the pathological tissues revealed submucosal infiltration of mononucleated foamy histiocytes (xanthoma cells), hemosiderin-laden macrophages, neutrophils, lymphocytes, plasma cells, and erythrocytes without Touton giant cells or cholesterol clefts...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29036889/single-administration-of-melatonin-modulates-the-nitroxidergic-system-at-the-peripheral-level-and-reduces-thermal-nociceptive-hypersensitivity-in-neuropathic-rats
#13
Elisa Borsani, Barbara Buffoli, Veronica Bonazza, Russel J Reiter, Rita Rezzani, Luigi F Rodella
Neuropathic pain is a severe condition with unsatisfactory treatments. Melatonin, an indolamine, seems to be a promising molecule suitable for this purpose due to its well-known anti-inflammatory, analgesic, and antioxidant effects, as well as its modulation of the nitroxidergic system. Nevertheless, the data on its mechanism of action and potentialities are currently insufficient in this pathology, especially at the peripheral level. Thus, this work evaluated the effect of a single administration of melatonin in an established mononeuropathy pain model that monitors the behaviour and the changes in the nitroxidergic system in dorsal root ganglia and skin, which are affected by nervous impairment...
October 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28983379/hypoglossal-nerve-mononeuropathy-as-the-first-presenting-symptom-of-progressing-multiple-myeloma
#14
Neil B Newman, Vidya Puthenpura, Stephanie Mischell, Gabriela Ferreira
Multiple myeloma (MM) rarely presents with a primary neurological dysfunction, and if it does it is usually due to a plasmacytoma. This is the first case to discuss hypoglossal nerve dysfunction as the first sign of MM progression secondary to severe pathophysiologic bone lysis. A PubMed-based literature search was completed on April 17, 2016 for the terms "multiple myeloma" and "hypoglossal nerve neuropathy". A 73-year-old woman with known MM who received little treatment for several years, presented secondary to dysarthria and at first was thought to have hyperviscosity syndrome...
February 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/28971059/common-peroneal-neuropathy-with-anterior-tibial-artery-occlusion-a-case-report
#15
Sungsoo Jeon, Da-Ye Kim, Dong Jae Shim, Min-Wook Kim
Peroneal neuropathy is a common mononeuropathy of the lower limb. Some studies have reported cases of peroneal neuropathy after vascular surgery or intervention. However, no cases of peroneal neuropathy with occlusion of a single peripheral artery have been previously reported. A 73-year-old man was referred with a 3-week history of left-sided foot drop. He had a history of valvular heart disease and arrhythmia, and had previously been treated with percutaneous coronary intervention. Computed tomography angiogram of the lower extremity showed proximal occlusion of the left anterior tibial artery...
August 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28955515/an-unusual-case-of-bilateral-meralgia-paresthetica-following-femoral-cannulations
#16
Seong-Il Oh, Eung Gyu Kim, Sang Jin Kim
Meralgia paresthetica (MP) is a sensory mononeuropathy of the lateral femoral cutaneous nerve (LFCN). MP has rarely been reported after a femoral intervention approach. We report a case of bilateral meralgia paresthetica following bilateral femoral cannulation. A 64-year-old male received cardiac catheterization and treatment via a bilateral femoral vein. After cardiac catheterization, the patient presented with paresthesia in the anterolateral aspect of the bilateral thigh. After performing nerve conduction studies and electromyography, he was diagnosed as MP...
September 2017: Neurointervention
https://www.readbyqxmd.com/read/28954972/steroid-responsive-demyelinating-peripheral-neuropathy-associated-with-chronic-lymphoproliferative-disorders-of-natural-killer-cells
#17
Hironori Sano, Toshihiko Maeda, Masatoshi Omoto, Jun-Ichi Ogasawara, Michiaki Koga, Motoharu Kawai, Takashi Kanda
We herein report the findings of a 67-year-old woman with steroid-responsive multiple mononeuropathy associated with chronic natural killer (NK) cell lymphocytosis. The patient developed progressive, asymmetric weakness and numbness in all four extremities in the course of a three-month period. Nerve conduction studies revealed asymmetric demyelination in both the motor and sensory nerves, and a biopsy specimen of the sural nerve showed a conspicuous difference in the demyelination between the neighboring fascicles and the infiltration of NK cells in the endoneurium...
October 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28914883/cidp-and-other-inflammatory-neuropathies-in-diabetes-diagnosis-and-management
#18
REVIEW
Yusuf A Rajabally, Mark Stettner, Bernd C Kieseier, Hans-Peter Hartung, Rayaz A Malik
Distal symmetric polyneuropathy (DSPN) is the most common neuropathy to occur in diabetes mellitus. However, patients with diabetes can also develop inflammatory neuropathies, the most common and most treatable of which is chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Whether diabetes is a risk factor for CIDP remains under debate. Early studies suggested that patients with diabetes were at increased risk of CIDP, but epidemiological studies failed to confirm the association, and subsequent data have re-opened the debate...
October 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28884720/-etiopathogenetic-factors-of-peripheral-neuropathic-pain-in-rheumatoid-arthritis
#19
E S Filatova, Sh F Erdes
AIM: To determine a neuropathic component of pain and define its causes in patients with rheumatoid arthritis (RA). MATERIAL AND METHODS: One hundred and eighty-three patients with confirmed RA, mean age 46,5±11,7 years, RA duration from 3 month to 30 years, were studied. Rheumatology, neurological, using the DN4 questionnaire, examinations and stimulation electromyography were used. Results and сonclusion. Signs of neuropathic pain (NP) assessed with the DN4 were identified in 73 (43%) patients with RA...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28870564/evaluation-of-polymerase-chain-reaction-in-nerve-biopsy-specimens-of-patients-with-hansen-s-disease
#20
Vandana Tiwari, Kiranpreet Malhotra, Kainat Khan, Pradeep K Maurya, Ajai Kumar Singh, Anup Kumar Thacker, Nuzhat Husain, Dinkar Kulshreshtha
BACKGROUND: Pure neuritic variety of leprosy (PNL) presents as peripheral neuropathy with absent skin lesions and negative skin smears. Diagnosing PNL is an uphill task as most of these patients have nonspecific changes on nerve biopsy. In such circumstances, additional molecular diagnostic tools like polymerase chain reaction (PCR) has proven to be useful in diagnosing leprosy. The present study was planned to evaluate the role of PCR in nerve biopsy specimens of patients with PNL. METHODS: Patients attending the neuromuscular clinic from January 2013 to June 2014 with mononeuropathy multiplex underwent detailed diagnostic evaluation to ascertain the cause of neuropathy...
September 15, 2017: Journal of the Neurological Sciences
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