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Neuromuscular medicine

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https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#1
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28721951/recording-characteristics-of-electrical-impedance-myography-needle-electrodes
#2
Hyeuknam Kwon, Seward B Rutkove, Benjamin Sanchez
OBJECTIVE: The neurology and physiatry community need improved tools for the evaluation of skeletal muscle condition. Here, we evaluate needle electrical impedance myography (EIM), a new minimally invasive approach to determine muscle status that could ultimately become a bedside tool for the assessment of neuromuscular disorders. APPROACH: We design and study the recording characteristics of tetrapolar EIM needle electrodes combining theory and finite element model simulations...
July 19, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28654473/regenerative-rehabilitation-combining-stem-cell-therapies-and-activity-dependent-stimulation
#3
Chet T Moritz, Fabrisia Ambrosio
The number of clinical trials in regenerative medicine is burgeoning, and stem cell/tissue engineering technologies hold the possibility of becoming the standard of care for a multitude of diseases and injuries. Advances in regenerative biology reveal novel molecular and cellular targets, with potential to optimize tissue healing and functional recovery, thereby refining rehabilitation clinical practice. The purpose of this review is to (1) highlight the potential for synergy between the fields of regenerative medicine and rehabilitation, a convergence of disciplines known as regenerative rehabilitation; (2) provide translational examples of regenerative rehabilitation within the context of neuromuscular injuries and diseases; and (3) offer recommendations for ways to leverage activity dependence via combined therapy and technology, with the goal of enhancing long-term recovery...
July 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#4
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28642541/can-uk-undergraduate-dental-programmes-provide-training-in-non-surgical-facial-aesthetics
#5
T W M Walker, F Gately, S Stagnell, A Kerai, C Mills, S Thomas
Aim Recently, more and more dentists have found themselves engaging in the delivery of non-surgical facial aesthetics (NSFA) as part of their regular practice routine. NSFA is a growing field in aesthetic medicine that is practised by a range of clinicians including doctors, dentists and registered prescriber nurses and is an industry estimated to be worth over £3 billion in the UK alone. In the past few years, several public scandals in aesthetic medicine have prompted reactions by several bodies including the Government and Royal Colleges...
June 23, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28624388/geo-economic-variations-in-epidemiology-patterns-of-care-and-outcomes-in-patients-with-acute-respiratory-distress-syndrome-insights-from-the-lung-safe-prospective-cohort-study
#6
John G Laffey, Fabiana Madotto, Giacomo Bellani, Tài Pham, Eddy Fan, Laurent Brochard, Pravin Amin, Yaseen Arabi, Ednan K Bajwa, Alejandro Bruhn, Vladimir Cerny, Kevin Clarkson, Leo Heunks, Kiyoyasu Kurahashi, Jon Henrik Laake, Jose A Lorente, Lia McNamee, Nicolas Nin, Jose Emmanuel Palo, Lise Piquilloud, Haibo Qiu, Juan Ignacio Silesky Jiménez, Andres Esteban, Daniel F McAuley, Frank van Haren, Marco Ranieri, Gordon Rubenfeld, Hermann Wrigge, Arthur S Slutsky, Antonio Pesenti
BACKGROUND: Little information is available about the geo-economic variations in demographics, management, and outcomes of patients with acute respiratory distress syndrome (ARDS). We aimed to characterise the effect of these geo-economic variations in patients enrolled in the Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure (LUNG SAFE). METHODS: LUNG SAFE was done during 4 consecutive weeks in winter, 2014, in a convenience sample of 459 intensive-care units in 50 countries across six continents...
June 14, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28621200/muscle-derived-stem-cells-in-peripheral-nerve-regeneration-reality-or-illusion
#7
Jing Zhou, Haiyan Cui, Haibin Lu, Zhuqiu Xu, Weifeng Feng, Lulu Chen, Xiaolei Jin, Xiaonan Yang, Zuoliang Qi
Owing to the complicated and time-consuming regenerative process, the repair of injured peripheral nerves depends largely on ongoing stem-cell therapy. Decades ago, researchers successfully isolated and identified muscle-derived stem cells (MDSCs) and discovered their potential for multidifferentiation. MDSCs play an important role in trauma repair associated with neuromuscular and vascular injury by simultaneously promoting tissue regrowth via direct differentiation and systematic secretion under physiological conditions...
June 16, 2017: Regenerative Medicine
https://www.readbyqxmd.com/read/28545159/the-value-transformation-of-health-care-impact-on-neuromuscular-and-electrodiagnostic-medicine
#8
Pushpa Narayanaswami, Millie Suk, Lyell K Jones
Beginning in 2017, most physicians who participate in Medicare are subject to the Medicare Access and CHIP Reauthorization Act (MACRA), the milestone legislation that signals the US health care system's transition from volume-based to value-based care. Here we review emerging trends in development of value-based healthcare systems in the US. MACRA and the resulting Quality Payment Program create 2 participation pathways, the Merit-based Incentive Payment System (MIPS) and the Advanced Alternative Payment Model (AAPM) pathway...
May 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28543877/it-s-time-to-move-on-from-the-bell-curve
#9
Lawrence R Robinson
The bell curve was first described in the 18th century by de Moivre and Gauss to depict the distribution of binomial events, such as coin tossing, or repeated measures of physical objects. In the 19th and 20th centuries, the bell curve was appropriated, or perhaps misappropriated, to apply to biologic and social measures across people. For many years we used it to derive reference values for our electrophysiologic studies. There is, however, no reason to believe that electrophysiologic measures should approximate a bell-curve distribution, and empiric evidence suggests they do not...
May 23, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28501806/exercise-in-type-2-diabetes-genetic-metabolic-and-neuromuscular-adaptations-a-review-of-the-evidence
#10
REVIEW
Silvano Zanuso, Massimo Sacchetti, Carl Johan Sundberg, Giorgio Orlando, Paolo Benvenuti, Stefano Balducci
The biological responses to exercise training are complex, as almost all organs and systems are involved in interactions that result in a plethora of adaptations at the genetic, metabolic and neuromuscular levels.To provide the general practitioner and the sports medicine professionals with a basic understanding of the genetic, metabolic and neuromuscular adaptations at a cellular level that occur with aerobic and resistance exercise in subjects with type 2 diabetes.For each of the three domains (genetic, metabolic and neuromuscular), the results of the major systematic reviews and original research published in relevant journals, indexed in PubMed, were selected...
May 13, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28498889/uk-anaesthetists-perspectives-and-experiences-of-severe-perioperative-anaphylaxis-nap6-baseline-survey%C3%A2
#11
H I Kemp, T M Cook, M Thomas, N J N Harper
Background: There is limited information on UK anaesthetists' perspectives and experiences of perioperative anaphylaxis. This baseline survey of the Sixth National Audit Project (NAP6) aimed to identify relevant departmental preparedness and practices, and individual experiences, perceptions and drug-avoidance patterns. Methods: All anaesthetists in 356 UK NHS hospitals were invited to complete an electronic survey. Results: 11 104 anaesthetists (77% crude response rate) from 341 (96%) hospitals responded...
May 12, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28484823/-prolonged-weaning-during-early-neurological-and-neurosurgical-rehabilitation-s2k-guideline-published-by-the-weaning-committee-of-the-german-neurorehabilitation-society-dgnr
#12
REVIEW
J D Rollnik, J Adolphsen, J Bauer, M Bertram, J Brocke, C Dohmen, E Donauer, M Hartwich, M D Heidler, V Huge, S Klarmann, S Lorenzl, M Lück, M Mertl-Rötzer, T Mokrusch, D A Nowak, T Platz, L Riechmann, F Schlachetzki, A von Helden, C W Wallesch, D Zergiebel, M Pohl
Prolonged weaning of patients with neurological or neurosurgery disorders is associated with specific characteristics, which are taken into account by the German Society for Neurorehabilitation (DGNR) in its own guideline. The current S2k guideline of the German Society for Pneumology and Respiratory Medicine is referred to explicitly with regard to definitions (e.g., weaning and weaning failure), weaning categories, pathophysiology of weaning failure, and general weaning strategies. In early neurological and neurosurgery rehabilitation, patients with central of respiratory regulation disturbances (e...
May 8, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28435672/tele-medicine-in-respiratory-diseases
#13
REVIEW
Nicolino Ambrosino, Dewi Nurul Makhabah, Yusup Subagio Sutanto
Information and Communication Technologies applied to health care and advances in sensor and data transmission technology allowed tele-medicine based programs of care also for patients with respiratory diseases. Different sensors, transmission devices and interventions are used in tele-medicine for some indications. Patients suffering from Chronic Obstructive Pulmonary Disease, asthma, neuromuscular diseases, ventilator assisted individuals and those undergoing pulmonary rehabilitation programs may benefit from this approach...
2017: Multidisciplinary Respiratory Medicine
https://www.readbyqxmd.com/read/28386682/-update-in-neuroanesthesiology-key-publications
#14
V-S Eckle, G Schneider
One of the aims of the Scientific Working Group Neuroanesthesia (WAKNA) of the German Society of Anesthesiology and Intensive Care Medicine is to disseminate new findings in the field of neuroscience and neuroanesthesia and to propagate novel therapeutic and diagnostic options into clinical practice. Once a year, the WAKNA displays and discusses recent noteworthy publications from the past 12 months at the German Anesthesia Meeting. In 2016, a new pharmacologic strategy with dexmedetomidine to prevent postoperative pain after craniotomy, the impact of the widely used anesthetic drug propofol on GABA receptor surface expression, a study highlighting the ultrasound-guided detection of increased intracranial pressure, and an article showing the interactions of neuromuscular blocking drugs on the BIS neuromonitoring were presented...
June 2017: Der Anaesthesist
https://www.readbyqxmd.com/read/28346315/the-effects-of-10-weeks-integrated-neuromuscular-training-on-fundamental-movement-skills-and-physical-self-efficacy-in-6-7-year-old-children
#15
Michael J Duncan, Emma L J Eyre, Samuel W Oxford
Integrated neuromuscular training (INT) has been suggested as an effective means to enhance athletic potential in children. However, few studies have reported the effects of school based INT programs. This study examined the effect of INT on process and product fundamental movement skill measures and physical self-efficacy in 6-7 year old children. Ninety-four children from 2 primary schools were randomised into either a 10 week INT program or a control group CON (n =41) group. Results indicated significantly greater increases in process FMS scores in INT vs CON (P = 0...
March 23, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28325621/-diplopia-an-important-symptom-in-internal-medicine
#16
S Bidot, V Biousse
Diplopia is defined as "double vision" when looking at a single object. Monocular diplopia is related to an ocular disorder and must be differentiated from binocular diplopia which is secondary to ocular misalignment. The examination of the patient with binocular diplopia is often challenging for non-specialists. However, a careful and systematic clinical examination followed by targeted ancillary testing allows the clinician to localize the lesion along the oculomotor pathways. The lesion may involve the brainstem, the ocular motor nerves III, IV or VI, the neuromuscular junction, the extraocular ocular muscles, or the orbit...
March 18, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28316262/tribute-to-dr-jacques-rogge-muscle-activity-and-fatigue-during-hiking-in-olympic-dinghy-sailing
#17
Jan G Bourgois, Jasmien Dumortier, Margot Callewaert, Bert Celie, Carlo Capelli, Gisela Sjøgaard, Dirk De Clercq, Jan Boone
'A tribute to Dr J. Rogge' aims to systematically review muscle activity and muscle fatigue during sustained submaximal quasi-isometric knee extension exercise (hiking) related to Olympic dinghy sailing as a tribute to Dr Rogge's merits in the world of sports. Dr Jacques Rogge is not only the former President of the International Olympic Committee, he was also an orthopaedic surgeon and a keen sailor, competing at three Olympic Games. In 1972, in fulfilment of the requirements for the degree of Master in Sports Medicine, he was the first who studied a sailors' muscle activity by means of invasive needle electromyography (EMG) during a specific sailing technique (hiking) on a self-constructed sailing ergometer...
March 19, 2017: European Journal of Sport Science
https://www.readbyqxmd.com/read/28272365/simultaneous-determination-of-three-furanocoumarins-by-uplc-ms-ms-application-to-pharmacokinetic-study-of-angelica-dahurica-radix-after-oral-administration-to-normal-and-experimental-colitis-induced-rats
#18
Youn-Hwan Hwang, Hye Jin Yang, Jin Yeul Ma
In traditional oriental medicine, Angelica dahurica Radix (ADR) is used in the treatment of gastrointestinal, respiratory, neuromuscular, and dermal disorders. We evaluated the pharmacokinetic profiles of oxypeucedanin, imperatorin, and isoimperatorin, major active ingredients of ADR, in normal and 2,4,6-trinitrobenzene sulfonic acid (TNBS)-induced colitis rats. A rapid, sensitive, and validated UPLC/MS/MS method was established for evaluating the pharmacokinetics of three furanocoumarins. After oral administration of ADR (0...
March 7, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28269087/analyzing-the-influence-of-curl-speed-in-fatiguing-biceps-brachii-muscles-using-semg-signals-and-multifractal-detrended-moving-average-algorithm
#19
Kiran Marri, Ramakrishnan Swaminathan
In this work, an attempt has been made to analyze surface electromyography (sEMG) signals of fatiguing biceps brachii muscles at different curl speeds using multifractal detrended moving average (MFDMA) algorithm. For this purpose, signals are recorded from fifty eight healthy subjects while performing curl exercise at their comfortable speed until fatigue. The signals of first and last curls are considered as nonfatigue and fatigue conditions, respectively. Further, the number of curls performed by each subject and the endurance time is used for computing the normalized curl speed...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28245730/peripheral-nervous-system-injury-after-high-dose-single-fraction-image-guided-stereotactic-radiosurgery-for-spine-tumors
#20
Michael D Stubblefield, Katarzyna Ibanez, Elyn R Riedel, Ori Barzilai, Ilya Laufer, Eric Lis, Yoshiya Yamada, Mark H Bilsky
OBJECTIVE The object of this study was to determine the percentage of high-dose (1800-2600 cGy) single-fraction stereotactic radiosurgery (SF-SRS) treatments to the spine that result in peripheral nervous system (PNS) injury. METHODS All patients treated with SF-SRS for primary or metastatic spine tumors between January 2004 and May 2013 and referred to the Rehabilitation Medicine Service for evaluation and treatment of neuromuscular, musculoskeletal, or functional impairments or pain were retrospectively identified...
March 2017: Neurosurgical Focus
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