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https://www.readbyqxmd.com/read/28102813/intramedullary-amputation-neuroma-a-case-report-and-review-of-the-literature
#1
Laura Stone McGuire, Mandana Behbahini, Sumit Das, David Loeffler, Peter Burger, Herbert Engelhard, Tibor Valyi-Nagy, Ankit Mehta
BACKGROUND AND IMPORTANCE: Amputation neuromas consist of non-neoplastic collections of myelinated axons and Schwann cells and typically arise in injured peripheral nerves. Rarely, however, neuromas occur within the spinal cord. Intramedullary amputation neuromas have been described both with and without a history of trauma within the peripheral nervous system. We report a rare case of an isolated intramedullary spinal cord amputation neuroma. CLINICAL PRESENTATION: This 43-year-old man presented with progressive and severe gait deterioration for ~ 7 years...
January 19, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28102719/pregnancy-and-delivery-in-women-with-spinal-muscular-atrophy
#2
Bakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, Sharon Chelnick, Sandra P Reyna, Stephen J Kolb, John T Kissel
OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy using a cohort of genetically proven SMA patients form USA. METHODS: This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2...
January 19, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28102010/a-muscular-imprint-on-the-anterolateral-surface-of-the-proximal-femurs-of-the-krapina-neandertal-collection
#3
Maria Giovanna Belcastro, Valentina Mariotti
OBJECTIVES: The purpose of this study is to report and interpret a feature on the anterolateral surface of the proximal femurs of the Krapina hominid collection that we briefly described in 2006 (Periodicum Biologorum, 108, 319-329). MATERIALS AND METHODS: We recorded the presence or absence of the feature in all the proximal femurs of the Krapina collection (six specimens recordable) and in 622 modern human adult femurs. RESULTS: The feature consists in a series of crests delimitating three raised or depressed areas...
January 19, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28101567/influence-of-arm-crank-ergometry-on-development-of-lymphedema-in-breast-cancer-patients-after-axillary-dissection-a-randomized-controlled-trail
#4
Thorsten Schmidt, Jette Berner, Walter Jonat, Burkhard Weisser, Christioph Röcken, Marion van Mackelenbergh, Christoph Mundhenke
OBJECTIVE: To investigate the safety and efficacy of arm crank ergometry in breast cancer patients after axillary lymph node dissection, with regard to changes in bioelectrical impedance analysis, arm circumference, muscular strength, quality of life and fatigue. DESIGN: Randomized controlled clinical intervention trial. SUBJECTS: Forty-nine patients with breast cancer after axillary lymph node dissection. METHODS: Arm crank ergometer training twice-weekly was compared with usual care over 12 weeks...
January 19, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28101413/significant-and-sustaining-elevation-of-blood-oxygen-induced-by-chinese-cupping-therapy-as-assessed-by-near-infrared-spectroscopy
#5
Ting Li, Yaoxian Li, Yu Lin, Kai Li
Cupping therapy has been used in traditional Chinese medicine for thousands of years to relieve muscle pain/tendency/fatigue and to cure or reduce symbols of other diseases. However, its therapeutic effect is sparsely interpreted in the language of modern physiology. To objectively evaluate its therapeutic effect, we focused on dry cupping treatment and utilized near-infrared spectroscopy (NIRS) to assess the concentration change in oxy-hemoglobin ([HbO2]), deoxy-hemoglobin ([Hb]), and blood volume in the course of cupping therapy over 13 volunteers on the infraspinatus muscle, where is usually applied for shoulder pains...
January 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28100912/cryptic-splice-activation-but-not-exon-skipping-is-observed-in-minigene-assays-of-dystrophin-c-9361-1g-a-mutation-identified-by-ngs
#6
Emma Tabe Eko Niba, Atsushi Nishida, Van Khanh Tran, Dung Chi Vu, Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Hisahide Nishio, Masafumi Matsuo
Next-generation sequencing (NGS) discloses nucleotide changes in the genome. Mutations at splicing regulatory elements are expected to cause splicing errors, such as exon skipping, cryptic splice site activation, partial exon loss or intron retention. In dystrophinopathy patients, prediction of splicing outcomes is essential to determine the phenotype: either severe Duchenne or mild Becker muscular dystrophy, based on the reading frame rule. In a Vietnamese patient, NGS identified a c.9361+1G>A mutation in the dystrophin gene and an additional DNA variation of A>G at +117 bases in intron 64...
January 19, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28099929/modeling-the-phenotype-of-spinal-muscular-atrophy-by-the-direct-conversion-of-human-fibroblasts-to-motor-neurons
#7
Qi-Jie Zhang, Jin-Jing Li, Xiang Lin, Ying-Qian Lu, Xin-Xin Guo, En-Lin Dong, Miao Zhao, Jin He, Ning Wang, Wan-Jin Chen
Spinal muscular atrophy (SMA) is a lethal autosomal recessive neurological disease characterized by selective degeneration of motor neurons in the spinal cord. In recent years, the development of cellular reprogramming technology has provided an alternative and effective method for obtaining patient-specific neurons in vitro. In the present study, we applied this technology to the field of SMA to acquire patient-specific induced motor neurons that were directly converted from fibroblasts via the forced expression of 8 defined transcription factors...
January 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099476/whole-body-counter-evaluation-of-internal-radioactive-cesium-in-dogs-and-cats-exposed-to-the-fukushima-nuclear-disaster
#8
Seiichi Wada, Nobuhiko Ito, Masamichi Watanabe, Takehiko Kakizaki, Masahiro Natsuhori, Jun Kawamata, Yoshio Urayama
As a result of the 2011 nuclear incident that occurred at the Fukushima Nuclear Power Plant, a large number of abandoned dogs and cats were left within the disaster zone. A small number of these animals were rescued and cared for at shelters. Prior to the dispersal of these animals to their owners or fosterers, we evaluated the degree of internal radiocesium contamination using a specially designed whole-body counter. We conducted 863 non-invasive measurements of gamma rays due to internal radioactive cesium for 68 dogs and 120 cats at one shelter...
2017: PloS One
https://www.readbyqxmd.com/read/28099279/new-survival-target-for-duchenne-muscular-dystrophy
#9
Marcello Villanova, Sifa Kazibwe
We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rare to find patients with Duchenne muscular dystrophy living into their fifth decade, this is the first report of a patient in his sixth decade of life. We believe that besides use of continuous noninvasive respiratory support, the fortuitous absence of dilated cardiomyopathy associated with the particular point mutation of his dystrophin gene has permitted prolonged survival...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28099237/lower-limb-muscular-strength-balance-and-mobility-levels-in-adults-following-severe-thermal-burn-injuries
#10
Mohammed T A Omar, Amal M Abd El Baky, Anwar A Ebid
Severe burn injuries are associated with hypermetabolic response and increased catabolism. These lead to a vast loss of muscle mass and reduced muscle strength and function. Therefore, the aim of this study is to determine the impact of severe burn injuries on lower-limb muscular strength, balance, and mobility level in adults. Forty burned adults with burned TBSA (burned TBSA) ≥40% participated in this study. The peak torque and total work of quadriceps and knee flexors were calculated at 150°/sec using Biodex isokinetic dynamometer...
January 10, 2017: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://www.readbyqxmd.com/read/28098058/repair-of-an-inguinoscrotal-hernia-in-a-patient-with-becker-muscular-dystrophy
#11
F Tatulli, A Caraglia, A Delcuratolo, S Cassano, G S Chetta
INTRODUCTION: Inguinal hernia repairs are routinely performed as outpatient procedures in most patients, whereas a few require admission due to clinical or social peculiarities. Muscular dystrophies are inherited disorders characterized by progressive muscle wasting and weakness. In case of surgery there is no definite recommendation for either general or regional anesthesia. CASE REPORT: This contribution regards a 48 y. o. male patient diagnosed with Becker Muscular Dystrophy by muscle biopsy 10 years earlier...
September 2017: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/28097449/open-retromuscular-large-mesh-reconstruction-of-lumbar-incisional-hernias-including-the-atrophic-muscular-area
#12
Y Renard, L de Mestier, A Cagniet, N Demichel, C Marchand, J-L Meffert, R Kianmanesh, J-P Palot
PURPOSE: Lumbar incisional hernias (LIH) are a rare wall defect, whose surgical management is challenging because no recommendation exists. Moreover, LIH are frequently associated with flank bulging which should be taken into account during LIH surgical repair. We aimed to describe a cohort of patients operated on for LIH using a homogeneous surgical technique and to report surgical outcomes. METHODS: The records of all consecutive patients operated on in a specialized surgical center between January 2009 and January 2015 were retrospectively reviewed...
January 17, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28097378/-molecular-pathogenesis-of-duchenne-muscular-dystrophy-related-fibrosis
#13
K Ohlendieck, D Swandulla
Progressive myofibrosis plays a key role in Duchenne muscular dystrophy. The dystrophic loss of contractile cells triggers a relatively nonspecific restructuring of the surrounding mesenchyme. The increase in connective and fatty tissue leads to muscular weakness and is therefore of critical importance for the cellular pathogenesis of muscular dystrophy. The systematic biochemical analysis of fibrosis using comparative proteomics has identified a number of extracellular matrix proteins that are indirectly involved in muscular dystrophy...
January 17, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28097245/consideration-of-proper-operative-route-for-interlaminar-approach-for-percutaneous-endoscopic-lumbar-discectomy
#14
Juichi Tonosu, Yasushi Oshima, Ryutaro Shiboi, Akihiko Hayashi, Yuichi Takano, Hirohiko Inanami, Hisashi Koga
BACKGROUND: Percutaneous endoscopic lumbar discectomy (PELD) is one of the less invasive treatments of lumbar disc herniation (LDH), and has three different operative approaches. This study focused on the interlaminar approach (ILA) and investigated the appropriate operative route for this approach. METHODS: ILA was performed in 41 patients with LDH. The width of the interlaminar space, LDH size, and positional relation between LDH and the corresponding nerve root were radiologically evaluated...
December 2016: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/28097207/upper-arm-and-cardiac-magnetic-resonance-imaging-in-duchenne-muscular-dystrophy
#15
Lasya Gaur, Alexander Hanna, W Patricia Bandettini, Kenneth H Fischbeck, Andrew E Arai, Ami Mankodi
We analyzed quantitative maps of T1 and T2 relaxation times and muscle fat fraction measurements in magnetic resonance imaging of the upper arm skeletal muscles and heart in ambulatory boys with Duchenne muscular dystrophy and age-range-matched healthy volunteer boys. The cardiac-optimized sequences detected fatty infiltration and edema in the upper arm skeletal muscles but not the myocardium in these Duchenne muscular dystrophy boys who had normal ejection fraction. Imaging the heart and skeletal muscle using the same magnetic resonance imaging methods during a single scan may be useful in assessing relative disease status and therapeutic response in clinical trials of Duchenne muscular dystrophy...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28096999/decreasing-skeletal-muscle-as-a-risk-factor-for-mortality-in-elderly-patients-with-sepsis-a-retrospective-cohort-study
#16
Keita Shibahashi, Kazuhiro Sugiyama, Masahiro Kashiura, Yuichi Hamabe
BACKGROUND: Older patients account for the majority of patients with sepsis. The objective of this study was to determine if decreased skeletal muscle mass is associated with outcomes in elderly patients with sepsis. METHODS: Patients (60 years and older) who were admitted to a tertiary medical center intensive care unit with a primary diagnosis of sepsis between January 2012 and February 2016 were included. Patients who had not undergone abdominal computed tomography on the day of admission, had cardiopulmonary arrest on arrival, or had iliopsoas abscess were excluded from the analyses...
2017: Journal of Intensive Care
https://www.readbyqxmd.com/read/28096758/effects-of-acute-ingestion-of-a-pre-workout-dietary-supplement-with-and-without-p-synephrine-on-resting-energy-expenditure-cognitive-function-and-exercise-performance
#17
Y Peter Jung, Conrad P Earnest, Majid Koozehchian, Elfego Galvan, Ryan Dalton, Dillon Walker, Christopher Rasmussen, Peter S Murano, Mike Greenwood, Richard B Kreider
BACKGROUND: The purpose of this study was to examine the effects of acute ingestion of a pre-workout dietary supplement (PWS) with and without p-synephrine (S) on perceptions of readiness to perform, cognitive function, exercise performance, and markers of safety. METHODS: In a randomized, double-blind, and counterbalanced manner; 25 healthy and recreationally active male and female participants ingested a flavored maltodextrin placebo (PLA), a PWS containing beta-alanine (3 g), creatine nitrate as a salt (2 g), arginine alpha-ketoglutarate (2 g), N-Acetyl-L-Tyrosine (300 mg), caffeine (284 mg), Mucuna pruiriens extract standardized for 15% L-Dopa (15 mg), Vitamin C as Ascorbic Acid (500 mg), niacin (60 mg), folate as folic acid (50 mg), and Vitamin B12 as Methylcobalamin (70 mg) with 2 g of maltodextrin and flavoring; or, the PWS with Citrus aurantium (PWS + S) extract standardized for 30% p-synephrine (20 mg)...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28096458/more-severe-disease-and-slower-recovery-in-younger-patients-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-associated-autoimmune-myopathy
#18
Eleni Tiniakou, Iago Pinal-Fernandez, Thomas E Lloyd, Jemima Albayda, Julie Paik, Jessie L Werner, Cassie A Parks, Livia Casciola-Rosen, Lisa Christopher-Stine, Andrew L Mammen
OBJECTIVE: To study disease severity and response to therapy in a large cohort of patients with anti-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)-associated myositis. METHODS: Muscle strength, creatine kinase levels and treatments were assessed in anti-HMGCR-positive patients at each clinical visit. Univariate and multivariate analyses were used to analyse the influence of clinical characteristics on strength and the change in strength over time. Whole exome sequencing was performed in a subset of patients...
January 17, 2017: Rheumatology
https://www.readbyqxmd.com/read/28096194/autologous-cell-therapy-for-peripheral-arterial-disease-systematic-review-and-meta-analysis-of-randomized-non-randomized-and-non-controlled-studies
#19
Mauro Rigato, Matteo Monami, Gian Paolo Fadini
RATIONALE: Critical limb ischemia (CLI) is a life-threatening complication of peripheral arterial disease (PAD). In patients who are ineligible for revascularization procedures, there are few therapeutic alternatives, leading to amputations and death. OBJECTIVE: To provide a systematic review of the literature and a meta-analysis of studies evaluating safety and efficacy of autologous cell therapy for intractable PAD/CLI. METHODS AND RESULTS: We retrieved 19 randomized controlled trials (RCTs; 837 patients), 7 non-randomized trials (338 patients), and 41 non-controlled studies (1,177 patients)...
January 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28095374/human-cytomegalovirus-infection-in-nonimmunocompromised-patients-a-retrospective-analysis-and-review-of-the-literature
#20
Konstantin Zedtwitz-Liebenstein, Magda Diab-Elschahaw, Michael Frass
In a retrospective analysis of patients visiting the Outpatient Department of the Division of Infectious Diseases and Tropical Medicine over a period of 3 years, we found a high incidence of symptomatic nonsevere human cytomegalovirus (HCMV) infection in nonimmunocompromised patients. We present 11 symptomatic cases of HCMV infection in nonimmunocompromised patients with non-life-threatening symptoms like long-lasting depletion, fatigue, and subfebrile fever with or without muscular pain and arthralgia. Although the symptoms were not life-threatening, all of the patients suffered a prolonged duration of the disease until improvement...
January 18, 2017: Intervirology
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