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https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#1
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28447405/high-mortality-from-guillain-barr%C3%A3-syndrome-in-bangladesh
#2
Tanveen Ishaque, Mohammad B Islam, Gulshan Ara, Hubert P Endtz, Quazi D Mohammad, Bart C Jacobs, Zhahirul Islam
Although Guillain-Barré syndrome (GBS) has higher incidence and poor outcome in Bangladesh, mortality from GBS in Bangladesh has never been explored before. We sought to explore the frequency, timing and risk factors for deaths from GBS in Bangladesh. We conducted a prospective study on 407 GBS patients who were admitted to Dhaka Medical College Hospital, Dhaka, Bangladesh from 2010 to 2013. We compared deceased and alive patients to identify risk factors. Cox regression model was used to adjust for confounders...
April 26, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28446938/minimally-invasive-surgery-for-resection-of-ossification-of-the-ligamentum-flavum-in-the-thoracic-spine
#3
Wei Zhao, Chaoxiong Shen, Ranze Cai, Jianfeng Wu, Yuandong Zhuang, Zhaowen Cai, Rui Wang, Chunmei Chen
INTRODUCTION: Thoracic ossification of the ligamentum flavum (TOLF) is a common cause of progressive thoracic myelopathy. Surgical decompression is commonly used to treat TOLF. AIM: To evaluate the clinical outcomes of microsurgical decompression of TOLF via a paraspinal approach, using a percutaneous tubular retractor system. MATERIAL AND METHODS: First, three-dimensional (3D) image reconstruction and printed models were made from thin computed tomography scans for each patient...
2017: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/28446584/the-human-primary-somatosensory-cortex-is-differentially-involved-in-vibrotaction-and-nociception
#4
Cédric Lenoir, Gan Huang, Yves Vandermeeren, Samar M Hatem, André Mouraux
The role of the primary somatosensory cortex (S1) in vibrotaction is well established. In contrast, its involvement in nociception remains debated. Here, we test whether S1 is similarly involved in the processing of non-nociceptive and nociceptive somatosensory input in humans by comparing the after-effects of high-definition transcranial direct current stimulation (HD-tDCS) of the primary sensorimotor cortex on the event-related potentials (ERPs) elicited by non-nociceptive and nociceptive somatosensory stimuli delivered to the ipsilateral and contralateral hand...
April 26, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28446579/modulation-of-long-latency-afferent-inhibition-by-the-amplitude-of-sensory-afferent-volley
#5
Claudia V Turco, Jenin El-Sayes, Hunter J Fassett, Robert Chen, Aimee Jennifer Nelson
Long-latency afferent inhibition (LAI) is the inhibition of the transcranial magnetic stimulation (TMS) motor-evoked potentials (MEP) by the sensory afferent volley following electrical stimulation of a peripheral nerve. It is unknown how the activation of sensory afferent fibres relates to the magnitude of LAI. This study investigated the relationship between LAI and the sensory nerve action potentials (SNAP) from the median nerve (MN) and the digital nerves (DN) of the second digit. LAI was obtained by delivering nerve stimulation 200 ms prior to a TMS pulse delivered over the motor cortex...
April 26, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28445266/recurrent-laryngeal-nerve-injury-after-thyroid-and-parathyroid-surgery-incidence-and-postoperative-evolution-assessment
#6
Gaëtan-Romain Joliat, Valentine Guarnero, Nicolas Demartines, Valérie Schweizer, Maurice Matter
Recurrent laryngeal nerve (RLN) injury is a feared complication after thyroid and parathyroid surgery. It induces important postoperative morbidity. The present study aimed to assess the incidence of transient/permanent postoperative RLN injuries after thyroid and parathyroid surgery in the present cohort, to observe the timing of recovery, and to identify risk factors for permanent RLN injury after thyroidectomy.All consecutive patients operated on at our institution for thyroid and parathyroid pathologies from 2005 to 2013 were reviewed for vocal cord paresis...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28441281/incarcerated-medial-epicondyle-fractures-with-elbow-dislocation-risk-factors-associated-with-morbidity
#7
Carley Vuillermin, Kyna S Donohue, Patricia Miller, Andrea S Bauer, Dennis E Kramer, Yi-Meng Yen
BACKGROUND: Incarcerated medial epicondyle fractures in association with elbow trauma are rare and an absolute indication for intervention. Because of the infrequent nature, outcomes following this injury are not well documented. We studied a large cohort of these injuries to determine factors associated with functional outcomes. It was hypothesized that a greater duration between initial presentation and time of surgery would lead to poorer outcomes. METHODS: A total of 32 patients aged 18 and under who underwent surgical treatment for an incarcerated medical epicondyle fracture at a level-1 pediatric trauma center from 2003 to 2015 were identified...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28439675/a-pilot-study-assessing-the-efficacy-of-posterior-tibial-nerve-stimulation-in-the-treatment-of-low-anterior-resection-syndrome
#8
V Vigorita, S Rausei, P Troncoso Pereira, I Trostchansky, A Ruano Poblador, E Moncada Iribarren, C Facal Alvarez, A de San Ildefonso Pereira, E Casal Núñez
BACKGROUND: Low anterior resection for rectal cancer often results in severe bowel dysfunction, specifically low anterior resection syndrome (LARS), with symptoms such as incontinence, urgency, and frequent bowel movements. Percutaneous tibial nerve stimulation (PTNS) resulted in a high rate of success in patients with fecal incontinence. The aim of this study was to evaluate the effectiveness of treatment with PTNS in LARS and to identify predictors of the outcome of the technique. METHODS: The study was conducted from May 2012 to April 2015 at the Alvaro Cunqueiro Hospital, University Hospital Complex of Vigo, Spain...
April 24, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28438411/magnetic-resonance-imaging-of-the-digital-nerves-of-the-hand-anatomy-and-spectrum-of-pathology
#9
REVIEW
Charles H Mitchell, Laura M Fayad, Shivani Ahlawat
Digital nerves are intrinsic to the sensory and motor function of the hand. These nerves represent the terminal ramifications of the ulnar, median, and radial nerves and are located distal to the carpal tunnel and Guyon canal. With magnetic resonance imaging, traumatic and nontraumatic abnormalities of the digital nerves can be shown with high contrast as well as high spatial resolution. Digital nerve abnormalities are most commonly posttraumatic in nature; however, infection, inflammatory, vascular malformations, and neoplasms can rarely occur...
March 6, 2017: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28438258/intraneural-glomus-tumor-of-uncertain-malignant-potential-and-with-braf-mutation-in-the-median-nerve-an-unusual-case
#10
Lars B Dahlin, Peter Scherman, Jack Besjakov, Eva Lindberg, David A Solomon, Andrew E Horvai, Arie Perry
A glomus tumor of uncertain malignant potential is defined as a glomus tumor with some, but not all, criteria for malignancy and without a known metastasis. Here, we present a rare example presenting in the median nerve in a 40-year-old woman with a long history of severely impaired left median nerve function. A large panel of immunohistochemical stains excluded other diagnoses, and the designation of a "uncertain malignant potential" was based on the high proliferative activity, the tumor size and location, and the lack of WHO malignancy criteria such as marked nuclear atypia, necrosis, or atypical mitoses...
April 25, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28437363/intratympanic-dexamethasone-in-the-treatment-of-m%C3%A3-ni%C3%A3-re-s-disease-a-comparison-of-two-techniques
#11
Jason A Beyea, Ryan S Instrum, Sumit K Agrawal, Lorne S Parnes
OBJECTIVE: To assess the efficacy and safety of two different intratympanic dexamethasone (IT Dex) injection protocols for intractable unilateral Ménière's disease. STUDY DESIGN: Prospective case series. SETTING: Tertiary neurotology clinic. PATIENTS: One hundred six consecutive adult patients with definite unilateral Ménière's disease who had failed medical management were studied for an average of 1,061 days. None had previous oral steroid, IT steroid, or ablative treatment...
April 21, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28436592/diagnostic-value-of-virtual-touch-tissue-imaging-quantification-for-evaluating-median-nerve-stiffness-in-carpal-tunnel-syndrome
#12
Chen Zhang, Miao Li, Jue Jiang, Qi Zhou, Li Xiang, Yajuan Huang, Wenrui Ban, Wei Peng
OBJECTIVES: To measure the shear wave velocity (SWV) of the median nerve by Virtual Touch tissue imaging quantification (VTIQ; Siemens AG, Erlangen, Germany) through the beginning of the carpal tunnel and to determine whether VTIQ could be used to diagnose carpal tunnel syndrome. METHODS: This study recruited 49 consecutive patients (72 wrists) with a definitive diagnosis of carpal tunnel syndrome and 23 healthy volunteers (46 wrists). We measured the median nerve diameter and cross-sectional area by 2-dimensional sonography and the SWV by VTIQ...
April 24, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28435568/early-vessels-exploration-of-pink-pulseless-hand-in-gartland-iii-supracondylar-fracture-humerus-in-children-facts-and-controversies
#13
T Z Tunku-Naziha, Wms Wan-Yuhana, D Hadizie, Muhammad-Paiman, S Abdul-Nawfar, W S Wan-Azman, M S Arman-Z, S Abdul-Razak, M Z Rhendra-Hardy, W I Wan-Faisham
The management of pink pulseless limbs in supracondylar fractures has remained controversial, especially with regards to the indication for exploration in a clinically well-perfused hand. We reviewed a series of seven patients who underwent surgical exploration of the brachial artery following supracondylar fracture. All patients had a non-palpable radial artery, which was confirmed by Doppler ultrasound. CT angiography revealed complete blockage of the artery with good collateral and distal run-off. Two patients were more complicated with peripheral nerve injuries, one median nerve and one ulnar nerve...
March 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28434080/predictive-risk-factors-for-peritoneal-recurrence-after-pancreatic-cancer-resection-and-strategies-for-its-prevention
#14
Kyohei Ariake, Fuyuhiko Motoi, Hideo Ohtsuka, Koji Fukase, Kunihiro Masuda, Masamichi Mizuma, Hiroki Hayashi, Kei Nakagawa, Takanori Morikawa, Shimpei Maeda, Tatsuyuki Takadate, Takeshi Naitoh, Shinichi Egawa, Michiaki Unno
PURPOSE: To evaluate the risk factors for peritoneal recurrence (PR) of pancreatic adenocarcinoma and to discuss the appropriate management strategies. METHODS: We reviewed the medical records of 236 patients who underwent pancreatectomy for pancreatic adenocarcinoma. We then compared the clinicopathological characteristics of patients with vs. those without PR. The independent risk factors for PR were defined using the Cox proportional hazards regression model...
April 22, 2017: Surgery Today
https://www.readbyqxmd.com/read/28433831/ultrasonography-of-the-transverse-movement-and-deformation-of-the-median-nerve-and-its-relationships-with-electrophysiological-severity-in-the-early-stages-of-carpal-tunnel-syndrome
#15
Donghwi Park
BACKGROUND: To date, there have been conflicting suggestions regarding theinitial pathogenesis of CTS.It has been characterized as either inflammation of the median nerve caused by compression ornon-inflammatory fibrosis of the subsynovial connective tissue (SSCT). OBJECTIVE: To investigate the initialpathogenesis of CTS, we compared the deformation and displacement of the median nerve in accordance with the electrophysiological severity between patients with CTS (via Bland`s scale) and healthy controls...
April 19, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28432749/motor-nerve-excitability-after-childhood-guillain-barr%C3%A3-syndrome
#16
Judith Drenthen, Joyce Roodbol, Ellen M Maathuis, Coriene E Catsman-Berrevoets, Joleen H Blok, Marie-Claire Y de Wit, Bart C Jacobs
OBJECTIVE: To determine the residual motor nerve dysfunction after pediatric Guillain-Barré syndrome (GBS). METHODS: Observational cross-sectional cohort study in patients who previously developed GBS during childhood (<18 years). Ulnar motor nerve dysfunction was defined by compound motor action potential (CMAP) scan in patients after a follow-up of at least one year compared with age-matched healthy controls, in relation to clinical course and outcome. RESULTS: Thirty-seven persons previously diagnosed with GBS in childhood were included with a mean age at current examination of 20...
April 21, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28432693/multimodal-neurophysiological-monitoring-in-healthy-infants-born-at-term-normative-continuous-somatosensory-evoked-potentials-data
#17
Silvia Lori, Simonetta Gabbanini, Maria Bastianelli, Giovanna Bertini, Iuri Corsini, Carlo Dani
AIM: To describe accurate, standardized 1h-multimodal neurophysiological monitoring (1h-MNM), while simultaneously recording VEEG, aEEG, and SEP-C bilaterally from median nerves, and to collect neonatal normative SEP-C data related to behavioural states. METHOD: Twenty healthy, term newborn infants (13 males, 7 females; gestational age 37-42wks; mean 39.6wks, standard deviation [SD] 1.3wks) underwent 1h-MNM within 2 days of life, with focus on recording of the SEP-C (band-pass setting 1-100 Hz, rate of stimulation 1...
April 22, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28432112/reduction-of-severe-visual-loss-and-complications-following-intra-arterial-chemotherapy-iac-for-refractory-retinoblastoma
#18
M Ashwin Reddy, Zishan Naeem, Catriona Duncan, Fergus Robertson, Jane Herod, Adam Rennie, Alki Liasis, Dorothy Ann Thompson, Mandeep Sagoo
BACKGROUND: Intra-arterial chemotherapy (IAC) for retinoblastoma has been documented as causing visual loss and ocular motility problems. A lack of safety data has precluded its acceptance in all centres. METHODS: Retrospective cohort study of patients with retinoblastoma from 2013 to 2015 who had a healthy foveola and relapsed following systemic chemotherapy. All required IAC. The correlation of complications with doses of melphalan +/- topotecan used and putative catheterisation complications was assessed...
April 21, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28431869/the-diagnostic-and-prognostic-value-of-the-optic-nerve-sheath-diameter-on-ct-for-diagnosis-spontaneous-subarachnoid-hemorrhage
#19
Murat Yesilaras, Turgay Yilmaz Kilic, Suveyda Yesilaras, Ozge Duman Atilla, Dilek Öncel, Mahmut Çamlar
INTRODUCTION: The aim of this study was to investigate the relationship between the optic nerve sheath diameter (ONSD) measured on non-contrast head computed tomography (CT) and the diagnosis and prognosis of spontaneous subarachnoid hemorrhage (SAH) on emergency department (ED) patients. METHOD: We used a matched control group of patients with the same age and gender who were diagnosed in the ED with spontaneous SAH and who admitted to the ED with headache. Four emergency medicine attending physicians made the ONSD measurements...
April 14, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28431823/sleepiness-and-activity-in-heart-failure-patients-with-reduced-ejection-fraction-and-central-sleep-disordered-breathing
#20
Angela Atalla, Thomas W Carlisle, Anita K Simonds, Martin R Cowie, Mary J Morrell
OBJECTIVE: Patients with heart failure (HF) and sleep disordered breathing (SDB) are typically not sleepy, unlike patients without heart failure. Previous work in HF patients with obstructive SDB suggested that sleepiness was associated with a reduction in daytime activity. The consequences of predominately central SDB on sleepiness in HF are less well understood. The aim of this study was to test the hypothesis that subjective sleepiness is associated with reduced daytime activity in HF patients with central SDB, compared to those without SDB...
January 23, 2017: Sleep Medicine
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