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Muscle atrophy

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https://www.readbyqxmd.com/read/28645604/posterior-paramedian-approach-to-a-ventrally-located-spinal-meningioma
#1
Han Soo Chang
BACKGROUND: To approach a ventral spinal pathology, a lateral viewing angle is often required. However, lateral approaches to the spine are usually more technically demanding and require certain amount of surgical expertise. In this report, we describe a simple and easy technique to obtain the lateral viewing angle to the ventral spinal pathology. CASE DESCRIPTION: The technique is demonstrated in a ventrally located meningioma at C2 level. Axial magnetic resonance imaging (MRI) showed a square posterior shift of the spinal cord with little lateral space, which necessitated a more lateral viewing angle than the conventional posterior approach...
June 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28645253/a-case-report-of-thoracolumbar-paraspinal-myopathy-as-the-cause-of-camptocormia-in-a-patient-with-atypical-parkinsonism
#2
Yoon Kim, Ahro Kim, Aryun Kim, Beomseok Jeon
BACKGROUND: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. However, based on myopathic changes observed in the paraspinal muscle biopsies of some PD patients with camptocormia, the attempt to attribute camptocormia to myopathy has continued...
June 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28644884/ligand-induced-rapid-skeletal-muscle-atrophy-in-hsa-fv2e-perk-transgenic-mice
#3
Masato Miyake, Masashi Kuroda, Hiroshi Kiyonari, Kenji Takehana, Satoshi Hisanaga, Masatoshi Morimoto, Jun Zhang, Miho Oyadomari, Hiroshi Sakaue, Seiichi Oyadomari
BACKGROUND: Formation of 43S and 48S preinitiation complexes plays an important role in muscle protein synthesis. There is no muscle-wasting mouse model caused by a repressed 43S preinitiation complex assembly. OBJECTIVE: The aim of the present study was to develop a convenient mouse model of skeletal muscle wasting with repressed 43S preinitiation complex assembly. MATERIAL AND METHODS: A ligand-activatable PERK derivative Fv2E-PERK causes the phosphorylation of eukaryotic initiation factor 2α (eIF2α), which inhibits 43S preinitiation complex assembly...
2017: PloS One
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/28643102/post-operative-rotator-cuff-integrity-based-on-sugaya-s-classification-can-reflect-abduction-muscle-strength-of-the-shoulder
#5
Masahito Yoshida, Phillipe Collin, Thierry Josseaume, Alexandre Lädermann, Hideyuki Goto, Katumasa Sugimoto, Takanobu Otsuka
PURPOSE: Magnetic resonance (MR) imaging is common in structural and qualitative assessment of the rotator cuff post-operatively. Rotator cuff integrity has been thought to be associated with clinical outcome. The purpose of this study was to evaluate the inter-observer reliability of cuff integrity (Sugaya's classification) and assess the correlation between Sugaya's classification and the clinical outcome. It was hypothesized that Sugaya's classification would show good reliability and good correlation with the clinical outcome...
June 22, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28641925/safety-pharmacokinetics-and-sialic-acid-production-after-oral-administration-of-n-acetylmannosamine-mannac-to-subjects-with-gne-myopathy
#6
Xin Xu, Amy Q Wang, Lea L Latham, Frank Celeste, Carla Ciccone, May Christine Malicdan, Barry Goldspiel, Pramod Terse, James Cradock, Nora Yang, Selwyn Yorke, John C McKew, William A Gahl, Marjan Huizing, Nuria Carrillo
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle glycoproteins likely contributes to the pathophysiology of this disease. N-acetyl-D-mannosamine (ManNAc), an uncharged monosaccharide and the first committed precursor in the sialic acid biosynthetic pathway, is a therapeutic candidate that prevents muscle weakness in the mouse model of GNE myopathy...
April 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28641283/-healing-of-amyotrophic-lateral-sclerosis-a-case-report
#7
Inge Mangelsdorf, Harald Walach, Joachim Mutter
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease leading to death within 3-5 years in most cases. New approaches to treating this disease are needed. Here, we report a successful therapy. CASE REPORT: In a 49-year-old male patient suffering from muscle weakness and fasciculations, progressive muscular atrophy, a variant of ALS, was diagnosed after extensive examinations ruling out other diseases. Due to supposed mercury exposure from residual amalgam, the patient's teeth were restored...
June 12, 2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28638932/-treatment-of-recurrent-laryngeal-nerve-paralysis
#8
A H Müller
Whereas static vocal fold medialization or lateralization are currently the standard procedures, new dynamic treatment methods such as reinnervation and laryngeal pacing focus on better toning and remobilization of the paralyzed vocal folds. End-to-end or jump anastomoses of the recurrent laryngeal nerve can preserve muscle mass and avoid atrophy, thus enabling subsequent dynamic therapeutic options. Prognostic evaluation and the time point of therapeutic intervention are important issues in the management of patients with recurrent laryngeal nerve paralysis...
June 20, 2017: HNO
https://www.readbyqxmd.com/read/28638928/-fat-deposition-in-skeletal-muscle-and-its-regulation
#9
Li-Fang Zheng, Pei-Jie Chen, Yong-Zhan Zhou, Wei-Hua Xiao
Under normal condition, there are a few lipid droplets in skeletal muscle. But in skeletal muscle acute injury, muscular dystrophy, muscle atrophy, obesity, diabetes and other pathological conditions, the fat deposition in skeletal muscle increases, which implicate that the fat deposition may play an important role in the pathogenesis of these diseases. However, the mechanisms of development and regulation of fat deposition in skeletal muscle are not clear. Clarifying the key signaling pathways and regulatory factors that affect fat deposition in skeletal muscle, and exploring new ways to improve the fat deposition in skeletal muscle will not only help to deepen our understanding of the pathogenesis of these diseases, but also provide new ideas for the treatment of these diseases...
June 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28637335/astrocyte-produced-mir-146a-as-a-mediator-of-motor-neuron-loss-in-spinal-muscular-atrophy
#10
Samantha L Sison, Teresa N Patitucci, Emily R Seminary, Eric Villalon, Christian L Lorson, Allison D Ebert
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is caused by loss of the survival motor neuron-1 (SMN1) gene, which leads to motor neuron loss, muscle atrophy, respiratory distress, and death. Motor neurons exhibit the most profound loss, but the mechanisms underlying disease pathogenesis are not fully understood. Recent evidence suggests that motor neuron extrinsic influences, such as those arising from astrocytes, contribute to motor neuron malfunction and loss. Here we investigated both loss-of-function and toxic gain-of-function astrocyte mechanisms that could play a role in SMA pathology...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28637129/patient-reported-outcomes-in-gne-myopathy-incorporating-a-valid-assessment-of-physical-function-in-a-rare-disease
#11
Christina Slota, Margaret Bevans, Li Yang, Joseph Shrader, Galen Joe, Nuria Carrillo
BACKGROUND: The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS: This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments...
February 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#12
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28634560/atypical-lipomatous-tumor-well-differentiated-liposarcoma-developed-in-a-patient-with-progressive-muscular-dystrophy-a-case-report-and-review-of-the-literature
#13
Ryo Miyagi, Toshihiko Nishisho, Shinjiro Takata, Yoshimitsu Shimatani, Shunichi Toki, Koichi Sairyo
BACKGROUND: Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) is an intermediate or locally aggressive form of adipocytic soft tissue sarcoma. Muscular dystrophy (MD) is characterized by progressive muscle atrophy and its replacement by adipose and fibrous tissue. Recently, some authors have reported that MD genes are related to neoplastic formation, but there have been no detailed clinical reports of ALT associated with MD. CASE PRESENTATION: A 73-year-old woman with a diagnosis of limb-girdle MD visited our department for recurrence of a huge tumor in her left thigh...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28634552/inherited-paediatric-motor-neuron-disorders-beyond-spinal-muscular-atrophy
#14
REVIEW
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28634514/cystic-lesions-of-peripheral-nerves-are-we-missing-the-diagnosis-of-the-intraneural-ganglion-cyst
#15
Jyoti Panwar, Anil Mathew, Binu P Thomas
AIM: To highlight the salient magnetic resonance imaging (MRI) features of the intraneural ganglion cyst (INGC) of various peripheral nerves for their precise diagnosis and to differentiate them from other intra and extra-neural cystic lesions. METHODS: A retrospective analysis of the magnetic resonance (MR) images of a cohort of 245 patients presenting with nerve palsy involving different peripheral nerves was done. MR images were analyzed for the presence of a nerve lesion, and if found, it was further characterized as solid or cystic...
May 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28633725/well-differentiated-neuroendocrine-tumor-a-low-b-grade-tumor-s-aggressive-course-and-dismal-outcome-a-case-report
#16
Dinesh Atwal, Krishna Prasad Joshi, Susanne Jeffus, James Ntambi, Fade Mahmoud
INTRODUCTION: Incidence of well-differentiated neuroendocrine tumors (NETs) of the colon and rectum is increasing and is now approximately 1 per 100,000 in the US. NETs are either well-differentiated (indolent) or poorly differentiated (aggressive). The majority of these tumors are found incidentally during screening colonoscopies and rarely are associated with symptoms of hormonal syndrome, even during the advanced stage. Metastatic well-differentiated NETs of the colon and rectum are incurable, hard to treat, and associated with a poor prognosis and survival rates similar to colorectal adenocarcinoma survival...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28632558/the-long-term-clinical-effect-of-minimal-invasive-tlif-technique-in-1-segment-lumbar-disease
#17
Yi-Bing Li, Xiao-Dong Wang, Hong-Wei Yan, Ding-Jun Hao, Zheng-Hua Liu
STUDY DESIGN: A prospective cohort double-center study. OBJECTIVE: To assess the clinical effect of minimally invasive transforaminal lumbar interbody fusion (miTLIF) using the tunnel technique. SUMMARY OF BACKGROUND DATA: A series of short-term studies have indicated that miTLIF could reduce blood loss and improve clinical results. However, long-term clinical study and magnetic resonance imaging research are still scare. METHODS: From January 2008 to January 2009, 187 patients with 1-segment lumbar disease requiring intervertebral fusion were enrolled in this study...
July 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28631905/-rationale-of-pharmacotherapy-duration-in-patients-with-benign-prostatic-hyperplasia-a-clinical-morphological-study
#18
M E Sitdykova, D E Tsyplakov, E N Sitdykov, A R Nurtdinov
AIM: To investigate the nature of morphological alterations in the urinary bladder wall in BPH patients receiving pharmacotherapy to establish treatment time limits. MATERIALS AND METHODS: The study comprised 120 BPH patients who underwent a transvesical adenomectomy. Prior to the surgery, 110 patients received pharmacotherapy (-blockers and 5-reductase inhibitors) lasting from 1-6 months to 5-10 years. Preoperative evaluation included a standard diagnostic algorithm...
June 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28625674/regional-cerebral-cortical-thickness-correlates-with-autonomic-outflow
#19
REVIEW
Katelyn N Wood, Mark B Badrov, Mark R Speechley, J Kevin Shoemaker
Dysregulation of autonomic control often develops with advancing age, favoring a chronic state of heightened sympathetic outflow with parasympathetic withdrawal. However, the mechanisms of this age-related autonomic impairment are not known. This study tested the hypothesis that inter-individual differences in autonomic outflow across the adult age-span are related to cerebral cortex thickness. A total of 55 healthy, active individuals participated in this study (21-73years; 18 female). Physical fitness was treated as a possible covariate (VO2peak: 26-81mL/kg/min)...
June 7, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28624897/corrosion-of-harrington-rod-in-idiopathic-scoliosis-long-term-effects
#20
Beth Sherman, Tanya Crowell
PURPOSE: Metal implants have been used to treat adolescent idiopathic scoliosis since the 1960s. Only recently, however, it has the issue of metal-bone breakdown secondary to metal corrosion in situ come to light, raising concerns of possible long-term complications from the resulting metallosis and inflammation of spinal tissues. We present a case of a patient with neurological deficit, pain, and disability with Harrington rod in place for over 30 years, to bring attention to the issue of bio-corrosion of metal implants and its effect on human tissue...
June 17, 2017: European Spine Journal
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