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https://www.readbyqxmd.com/read/27933692/preferential-changes-of-skeletal-muscle-echogenicity-in-myotonic-dystrophy-type-1
#1
N Takamatsu, K Sogawa, H Nodera, S Hashiguchi, Y Osaki, M Saito, A Mori, Y Izumi, R Kaji
BACKGROUND AND PURPOSE: In myotonic dystrophy type 1 (DM1), weakness of distal limb muscles affects quality of life. Non-invasive evaluation of muscular involvement by muscle sonography could be useful for characterizing muscle-specific involvement. METHODS: Sonography of the lower leg and forearm was performed in 19 patients with DM1 and 10 control subjects. The mean echo intensities (EIs) of seven limb muscles were obtained by computer-assisted histogram analysis and compared within DM1 according to the overall clinical severity...
December 9, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27932182/recovery-after-critical-illness-polyneuropathy-in-a-patient-with-orthotopic-liver-transplantation-a-case-report
#2
J Watanabe, E Ito, M Hatano, T Tohyama, Y Okada, Y Takada
After liver transplantation, some patients show neuromuscular abnormalities. A 43-year-old man with liver cirrhosis due to hepatitis C virus underwent living-donor liver transplantation. He developed severe neuromuscular dysfunction after sepsis, and acute respiratory distress syndrome. After the inflammatory reaction gradually improved, we observed bilateral weakness of the extremities and foot drop. Electrophysiological studies indicated primary axonal degeneration of peripheral motor and sensory fibers without inflammation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27931580/changes-in-muscle-strength-and-six-minute-walk-distance-before-and-after-living-donor-liver-transplantation
#3
Y Mizuno, S Ito, K Hattori, M Nagaya, T Inoue, Y Nishida, Y Onishi, H Kamei, N Kurata, Y Hasegawa, Y Ogura
BACKGROUND: Impaired exercise capacity and muscle weakness are important characteristics of liver transplantation recipients. Perioperative rehabilitation has been introduced to promote early mobilization of patients and to prevent postoperative pulmonary complications. However, it is unknown how physical status recovers during the hospital stay after a liver transplant. The purpose of this study was to evaluate the changes in clinical indicators that represent the functional exercise capacity and muscle strength before and after living donor liver transplantation (LDLT)...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#4
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27929389/diaphragm-dysfunction-diagnostic-approaches-and-management-strategies
#5
REVIEW
Bruno-Pierre Dubé, Martin Dres
The diaphragm is the main inspiratory muscle, and its dysfunction can lead to significant adverse clinical consequences. The aim of this review is to provide clinicians with an overview of the main causes of uni- and bi-lateral diaphragm dysfunction, explore the clinical and physiological consequences of the disease on lung function, exercise physiology and sleep and review the available diagnostic tools used in the evaluation of diaphragm function. A particular emphasis is placed on the clinical significance of diaphragm weakness in the intensive care unit setting and the use of ultrasound to evaluate diaphragmatic action...
December 5, 2016: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/27927766/phase-1-dose-finding-study-of-rebastinib-dcc-2036-in-patients-with-relapsed-chronic-myeloid-leukemia-and-acute-myeloid-leukemia
#6
Jorge Cortes, Moshe Talpaz, Hedy P Smith, David S Snyder, Jean Khoury, Kapil N Bhalla, Javier Pinilla-Ibarz, Richard Larson, David Mitchell, Scott C Wise, Thomas J Rutkoski, Bryan D Smith, Daniel L Flynn, Hagop M Kantarjian, Oliver Rosen, Richard A Van Etten
Available tyrosine kinase inhibitors for chronic myeloid leukemia bind in an ATP-binding pocket and are affected by evolving mutations that confer resistance. Rebastinib was identified as a switch control inhibitor of BCR-ABL1 and FLT3 and may be active against resistant mutations. A Phase 1, first in human, single-agent study investigated rebastinib in relapsed or refractory chronic or acute myeloid leukemia. Primary objectives were to investigate the safety of rebastinib and establish the maximum tolerated dose (MTD) and recommended Phase 2 dose...
December 7, 2016: Haematologica
https://www.readbyqxmd.com/read/27927595/decreased-cerebral-perfusion-in-duchenne-muscular-dystrophy-patients
#7
Nathalie Doorenweerd, Eve M Dumas, Eidrees Ghariq, Sophie Schmid, Chiara S M Straathof, Arno A W Roest, Beatrijs H Wokke, Erik W van Zwet, Andrew G Webb, Jos G M Hendriksen, Mark A van Buchem, Jan J G M Verschuuren, Iris Asllani, Erik H Niks, Matthias J P van Osch, Hermien E Kan
Duchenne muscular dystrophy is caused by dystrophin gene mutations which lead to the absence of the protein dystrophin. A significant proportion of patients suffer from learning and behavioural disabilities, in addition to muscle weakness. We have previously shown that these patients have a smaller total brain and grey matter volume, and altered white matter microstructure compared to healthy controls. Patients with more distal gene mutations, predicted to affect dystrophin isoforms Dp140 and Dp427, showed greater grey matter reduction...
October 17, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27926945/ear-structures-of-the-naked-mole-rat-heterocephalus-glaber-and-its-relatives-rodentia-bathyergidae
#8
Matthew J Mason, Hannah L Cornwall, Ewan St J Smith
Although increasingly popular as a laboratory species, very little is known about the peripheral auditory system of the naked mole-rat, Heterocephalus glaber. In this study, middle and inner ears of naked mole-rats of a range of ages were examined using micro-computed tomography and dissection. The ears of five other bathyergid species (Bathyergus suillus, Cryptomys hottentotus, Fukomys micklemi, Georychus capensis and Heliophobius argenteocinereus) were examined for comparative purposes. The middle ears of bathyergids show features commonly found in other members of the Ctenohystrica rodent clade, including a fused malleus and incus, a synovial stapedio-vestibular articulation and the loss of the stapedius muscle...
2016: PloS One
https://www.readbyqxmd.com/read/27924379/relationship-between-pelvic-floor-muscle-strength-and-sexual-dysfunction-in-postmenopausal-women-a-cross-sectional-study
#9
Maíra de Menezes Franco, Patricia Driusso, Kari Bø, Daniela Cristina Carvalho de Abreu, Lucia Alves da Silva Lara, Ana Carolina Japur de Sá Rosa E Silva, Cristine Homsi Jorge Ferreira
INTRODUCTION AND HYPOTHESIS: The prevalence of sexual dysfunction in postmenopausal women is high. Theoretically pelvic floor muscle (PFM) strength could influence sexual function, but to date there is scant evidence on this topic. The aim of this study was to evaluate the relationship between PFM strength and sexual function in postmenopausal women. The relationship between reported urinary incontinence (UI) and sexual dysfunction was also investigated. METHODS: This was a cross-sectional study including 113 postmenopausal women...
December 6, 2016: International Urogynecology Journal
https://www.readbyqxmd.com/read/27923984/short-term-effect-of-volume-recruitment-derecruitment-manoeuvre-on-chest-wall-motion-in-duchenne-muscular-dystrophy
#10
Henri Meric, Line Falaize, Didier Pradon, Matthieu Lacombe, Michel Petitjean, David Orlikowski, Hélène Prigent, Frédéric Lofaso
Because progressive respiratory muscle weakness leads to decreased chest-wall motion with eventual ribcage stiffening, the purpose was to compare vital capacity (VC) and contributions of chest-wall compartments before and after volume recruitment-derecruitment manoeuvres (VRDM) in Duchenne muscular dystrophy (DMD). We studied nine patients with DMD and VC lower than 30% of predicted. VRDM was performed using 15 insufflations-exsufflations of +30 to -30 cmH2O. VC and three-dimensional chest-wall motion were measured, as well as oxygen saturation, transcutaneous partial pressure of carbon dioxide and the rapid shallow breathing index (respiratory rate/tidal volume) before (baseline) and immediately and 1 hour after VRDM...
December 6, 2016: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/27923623/staged-total-knee-arthroplasty-for-bilateral-complex-knee-deformities-from-kashin-beck-disease-and-skeletal-dysplasia
#11
Ming Ling, Xueyuan Wu, Yanhai Chang, Xianghui Dong, Zhengming Sun, Li Ling, Shixun Wu, Bo Yang
This study reported two cases of patients with Grade III Kashin-Beck disease (KBD) with skeletal dysplasia concomitant with complex knee deformity and functional limitation treated by staged total knee arthroplasty (TKA). Detailed pre-operative planning, bone resection, and soft tissue balancing in affected knees were performed in the surgeries in this report. The results demonstrated that TKA could correct lower limb alignment, alleviate knee pain, improve function, and provide good quality of life in people with KBD...
December 3, 2016: Knee
https://www.readbyqxmd.com/read/27923622/factors-predicting-quadriceps-femoris-muscle-atrophy-during-the-first-12weeks-following-anterior-cruciate-ligament-reconstruction
#12
T Grapar Žargi, Matej Drobnič, Renata Vauhnik, Jadran Koder, Alan Kacin
BACKGROUND: Factors predicting quadriceps femoris muscle (QF) atrophy during the early period after arthroscopic ACL reconstruction have not been extensively studied. It is also yet to be confirmed whether muscle atrophy is a key determinant of postoperative QF weakness. METHODS: Mean changes in QF volume, MVIC torque and isometric endurance time were analysed in 25 patients prior to and at four and 12 weeks after surgery. A multivariable regression model of change in QF volume was made from combination of several parameters of preoperative QF size and strength and postoperative joint recovery...
December 3, 2016: Knee
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#13
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#14
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#15
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922494/approach-to-the-patient-with-hyperckemia
#16
Shannon L Venance
PURPOSE OF REVIEW: Neurologists commonly receive consultation requests regarding the evaluation of patients with an elevated serum creatine kinase (CK), a condition known as hyperCKemia. This article outlines an approach to the history and examination of patients with hyperCKemia in order to narrow the localization and differential of an elevated CK and guide possible next steps. This article aims to help clinicians identify treatable or reversible etiologies as well as those that will change management...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922457/daily-physical-activity-in-total-hip-arthroplasty-patients-undergoing-different-surgical-approaches-a-cohort-study
#17
Monika Engdal, Olav A Foss, Kristin Taraldsen, Vigdis S Husby, Siri B Winther
OBJECTIVE: Muscle weakness due to trauma from the surgical approach is anticipated to affect the ability of the patient to undertake daily physical activity early after total hip arthroplasty (THA). The objective of this study was to compare daily physical activity on days 1 to 4 after discharge, in patients following THA performed by 1 of 3 surgical approaches. DESIGN: A cohort study included 60 hip osteoarthritis patients, scheduled for THA, allocated to direct lateral approach, posterior approach, or anterior approach...
December 2, 2016: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27919547/granuloma-formation-in-a-patient-with-gne-myopathy-a-case-report
#18
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai, Daisuke Noto, Kenjiro Ono, Yukiko Hayashi, Ichizo Nishino, Masahito Yamada
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27918892/the-effects-of-muscle-weakness-on-degenerative-spondylolisthesis-a-finite-element-study
#19
Rui Zhu, Wen-Xin Niu, Zhi-Li Zeng, Jian-Hua Tong, Zhi-Wei Zhen, Shuang Zhou, Yan Yu, Li-Ming Cheng
BACKGROUND: Whether muscle weakness is a cause, or result, of degenerative spondylolisthesis is not currently well understood. Little biomechanical evidence is available to offer an explanation for the mechanism behind exercise therapy. Therefore, the aim of this study is to investigate the effects of back muscle weakness on degenerative spondylolisthesis and to tease out the biomechanical mechanism of exercise therapy. METHODS: A nonlinear 3-D finite element model of L3-L5 was constructed...
November 26, 2016: Clinical Biomechanics
https://www.readbyqxmd.com/read/27917636/-immune-mediated-necrotizing-myopathy-associated-with-statin-treatment
#20
Jiří Vencovský
Immune mediated necrotizing myopathy (IMNM) is an acquired inflammatory myopathy. One form of the disease is associated with serum anti-HMGCR autoantibodies and significant proportion of patients has a history of statin treatment. The disease is rare with the incidence estimated around 23 cases/100 000 statin treated individuals. In contrast to direct statin toxicity, anti-HMGCR associated IMNM is an induced autoimmune disease.Patients suffer particularly from severe muscle weakness, which may be occasionally totally immobilizing...
2016: Casopís Lékar̆ů C̆eských
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