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https://www.readbyqxmd.com/read/28531774/clinical-assessment-underestimates-fat-mass-and-overestimates-resting-energy-expenditure-in-children-with-neuromuscular-diseases
#1
Salesa Barja, Regina Pérez
BACKGROUND: Nutritional problems are frequent among patients with neuromuscular diseases, who consequently need an adequate evaluation. OBJECTIVE: to describe nutritional assessment and to estimate and measure body composition and energy requirement in children with neuromuscular diseases. SUBJECTS AND METHODS: We performed anthropometry, skinfold measurement and bioelectric impedance analysis (BIA) for estimate and measure, respectively, fat mass (FM)...
October 2016: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#2
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28524214/-possible-treatments-for-infantile-spinal-atrophy
#3
S I Pascual-Pascual, M Garcia-Romero
The new treatments of spinal muscular atrophy (SMA) due by SMN1 gene deletions are reviewed. There are several ways to increase the protein SMN, its activity and persistence in the tissues. Neuroprotective drugs as olesoxime or riluzole, and drugs acting by epigenetic mechanisms, as histone deacetylase inhibitors, have shown positive effects in preclinical studies but no clear efficacy in clinical trials. They might give in the future added benefits when used associated to other genetic modifying drugs. The best improvements in murine models of SMA and in clinical trials have been reached with antisense oligonucleotides, drugs that modify the splicing of SMN2, and they are expected to get better in the near future...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28522960/motomirs-mirnas-in-motor-neuron-function-and-disease
#4
REVIEW
Zachary C E Hawley, Danae Campos-Melo, Cristian A Droppelmann, Michael J Strong
MiRNAs are key regulators of the mammalian transcriptome that have been increasingly linked to degenerative diseases of the motor neurons. Although many of the miRNAs currently incriminated as participants in the pathogenesis of these diseases are also important to the normal development and function of motor neurons, at present there is no knowledge of the complete miRNA profile of motor neurons. In this review, we examine the current understanding with respect to miRNAs that are specifically required for motor neuron development, function and viability, and provide evidence that these should be considered as a functional network of miRNAs which we have collectively termed MotomiRs...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#5
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28515487/functional-interaction-between-fus-and-smn-underlies-sma-like-splicing-changes-in-wild-type-hfus-mice
#6
Alessia Mirra, Simona Rossi, Silvia Scaricamazza, Michela Di Salvio, Illari Salvatori, Cristiana Valle, Paola Rusmini, Angelo Poletti, Gianluca Cestra, Maria Teresa Carrì, Maur O Cozzolino
Several of the identified genetic factors in Amyotrophic Lateral Sclerosis (ALS) point to dysfunction in RNA processing as a major pathogenic mechanism. However, whether a precise RNA pathway is particularly affected remains unknown. Evidence suggests that FUS, that is mutated in familial ALS, and SMN, the causative factor in Spinal Muscular Atrophy (SMA), cooperate to the same molecular pathway, i.e. regulation of alternative splicing, and that disturbances in SMN-regulated functions, either caused by depletion of SMN protein (as in the case of SMA) or by pathogenic interactions between FUS and SMN (as in the case of ALS) might be a common theme in both diseases...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28511915/altered-ionic-currents-and-amelioration-by-igf-1-and-pacap-in-motoneuron-derived-cells-modelling-sbma
#7
Aura M Jiménez Garduño, Leon J Juárez-Hernández, María J Polanco, Laura Tosatto, Daniela Michelatti, Daniele Arosio, Manuela Basso, Maria Pennuto, Carlo Musio
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a motor neuron disease caused by the expansion of a polymorphic CAG tandem repeat encoding a polyglutamine (polyQ) tract in the androgen receptor (AR) gene. SBMA is triggered by the binding of mutant AR to its natural ligands, testosterone and dihydrotestosterone (DHT). To investigate the neuronal alterations of motor neuron cell models of SBMA, we applied patch-clamp methods to verify how polyQ expansions in the AR alter cell ionic currents...
May 10, 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28504671/reduced-sensory-synaptic-excitation-impairs-motor-neuron-function-via-kv2-1-in-spinal-muscular-atrophy
#8
Emily V Fletcher, Christian M Simon, John G Pagiazitis, Joshua I Chalif, Aleksandra Vukojicic, Estelle Drobac, Xiaojian Wang, George Z Mentis
Behavioral deficits in neurodegenerative diseases are often attributed to the selective dysfunction of vulnerable neurons via cell-autonomous mechanisms. Although vulnerable neurons are embedded in neuronal circuits, the contributions of their synaptic partners to disease process are largely unknown. Here we show that, in a mouse model of spinal muscular atrophy (SMA), a reduction in proprioceptive synaptic drive leads to motor neuron dysfunction and motor behavior impairments. In SMA mice or after the blockade of proprioceptive synaptic transmission, we observed a decrease in the motor neuron firing that could be explained by the reduction in the expression of the potassium channel Kv2...
May 15, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28504658/cure-sma-and-our-patient-community-celebrate-the-first-approved-drug-for-sma
#9
REVIEW
J Glascock, M Lenz, K Hobby, J Jarecki
Cure SMA is dedicated to the treatment and cure of spinal muscular atrophy (SMA), the number one genetic cause of death for infants. We fund groundbreaking research and provide families the support they need for today. Today, we have more than 115 000 members and supporters, with 35 volunteer chapters throughout the United States. In the last year, Cure SMA provided direct services to several thousand families. Since 1984, we've led and invested in the research that has made today's breakthroughs possible. With deep connections and expertise in both the patient and research communities, we have been uniquely positioned to direct funds to where they can make the greatest difference as quickly as possible...
May 15, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28503323/severe-cervical-flexion-myelopathy-with-long-tract-signs-a-case-report-and-a-review-of-literature
#10
Takahito Fujimori, Akiko Tamura, Toshitada Miwa, Motoki Iwasaki, Takenori Oda
INTRODUCTION: Hirayama disease, a type of cervical flexion myelopathy, is a rare neurological disease characterized by muscular atrophy of the forearms and hands. Generally, the pathology is limited to the gray matter of the anterior horns in the lower cervical spinal cord. However, in rare cases the damage can spread to the white matter and present as long tract signs. CASE PRESENTATION: We report on a 30-year-old female whose onset presented as unilateral muscle atrophy of the right hand in her teens...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28502804/wdr79-tcab1-plays-a-conserved-role-in-the-control-of-locomotion-and-ameliorates-phenotypic-defects-in-sma-models
#11
Maria Laura Di Giorgio, Alessandro Esposito, Paolo Maccallini, Emanuela Micheli, Francesca Bavasso, Ivan Gallotta, Fiammetta Vernì, Fabian Feiguin, Stefano Cacchione, Brian D McCabe, Elia Di Schiavi, Grazia Daniela Raffa
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the reason why its loss is especially critical in the motor system is still unclear. SMA genetic models have been employed to identify several modifiers that can ameliorate the deficits induced by SMN depletion. Here we focus on WDR79/TCAB1, a protein important for the biogenesis of several RNA species that has been shown to physically interact with SMN in human cells...
May 11, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28502335/limb-girdle-muscular-dystrophy-2b-and-miyoshi-presentations-of-dysferlinopathy
#12
Nirupa J Patel, Kenneth W Van Dyke, Luis R Espinoza
We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Genetic testing with polymerase chain reaction analysis of the DYSF gene confirmed the diagnosis in both patients...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28498636/study-protocol-evaluating-the-use-of-bowel-stimulation-before-loop-ileostomy-closure-to-reduce-postoperative-ileus-a-multicenter-randomized-controlled-trial
#13
Richard Garfinkle, Nora Trabulsi, Nancy Morin, Terry Phang, Sender Liberman, Liane Feldman, Gerald Fried, Marylise Boutros
AIM: Postoperative ileus is the most commonly observed morbidity following ileostomy closure. Studies have demonstrated that the defunctionalized bowel of a loop ileostomy undergoes a series of functional and structural changes, such as atrophy of the intestinal villi and muscular layers, which may contribute to ileus. A single-center study in Spain demonstrated that preoperative bowel stimulation via the distal limb of the loop ileostomy decreased postoperative ileus, length of stay, and time to gastrointestinal function...
May 12, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28493972/positive-radionuclide-imaging-of-mirna-expression-using-riles-and-the-human-sodium-iodide-symporter-as-reporter-gene-is-feasible-and-supports-a-protective-role-of-mirna-23a-in-response-to-muscular-atrophy
#14
Viorel Simion, Julien Sobilo, Rudy Clemoncon, Sharuja Natkunarajah, Safia Ezzine, Florence Abdallah, Stephanie Lerondel, Chantal Pichon, Patrick Baril
MicroRNAs (miRNAs) are key players in many biological processes and are considered as an emerging class of pharmacology drugs for diagnosis and therapy. However to fully exploit the therapeutic potential of miRNAs, it is becoming crucial to monitor their expression pattern using medical imaging modalities. Recently, we developed a method called RILES, for RNAi-Inducible Luciferase Expression System that relies on an engineered regulatable expression system to switch-ON the expression of the luciferase gene when a miRNA of interest is expressed in cells...
2017: PloS One
https://www.readbyqxmd.com/read/28491897/longitudinal-characterization-of-biomarkers-for-spinal-muscular-atrophy
#15
Ulrike Bonati, Štefan Holiga, Nicole Hellbach, Céline Risterucci, Tobias Bergauer, Wakana Tang, Patricia Hafner, Alain Thoeni, Oliver Bieri, Irene Gerlach, Anne Marquet, Omar Khwaja, Fabio Sambataro, Alessandro Bertolino, Juergen Dukart, Arne Fischmann, Dirk Fischer, Christian Czech
OBJECTIVE: Recent advances in understanding Spinal Muscular Atrophy (SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no general consensus has been reached on the most feasible ones. We observed a wide range of measures over 1 year to assess their ability to monitor the disease status and progression...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28489755/kennedy-disease-with-difficulty-in-differential-diagnosis-a-case-report
#16
Yating Chen, Peng Luo, Zhongli Li, Hengping Hu, Duobin Wu, Tingting Xu, Xingzuo Wang, Haiting Xie
RATIONALE: Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically. PATIENT CONCERNS: We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Physical examination showed gynecomastia, erectile dysfunction, bilateral tendon reflex and quadriceps weakness, and tongue muscle atrophy. DIAGNOSES: Laboratory examination found increased creatine kinase, impaired glucose tolerance, and abnormal lactic acid values...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#17
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28485722/how-the-discovery-of-iss-n1-led-to-the-first-medical-therapy-for-spinal-muscular-atrophy
#18
REVIEW
N N Singh, M D Howell, E J Androphy, R N Singh
Spinal muscular atrophy (SMA), a prominent genetic disease of infant mortality, is caused by low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the SMN1 gene. SMN2, a nearly identical copy of SMN1 present in humans, cannot compensate for the loss of SMN1 due to predominant skipping of exon 7 during pre-mRNA splicing. With the recent FDA approval of nusinersen (Spinraza™), the potential for correction of SMN2 exon 7 splicing as a SMA therapy has been affirmed. Nusinersen is an antisense oligonucleotide that targets intronic splicing silencer N1 (ISS-N1) discovered in 2004 at the University of Massachusetts Medical School...
May 9, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28481536/discovery-of-a-small-molecule-probe-that-post-translationally-stabilizes-the-survival-motor-neuron-protein-for-the-treatment-of-spinal-muscular-atrophy
#19
Anne Rietz, Hongxia Li, Kevin M Quist, Jonathan J Cherry, Christian L Lorson, Barrington G Burnett, Nicholas L Kern, Alyssa N Calder, Melanie Fritsche, Hrvoje Lusic, Patrick J Boaler, Sungwoon Choi, Xuechao Xing, Marcie A Glicksman, Gregory D Cuny, Elliot J Androphy, Kevin J Hodgetts
Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. We previously developed a high-throughput assay that employs an SMN2-luciferase reporter allowing identification of compounds that act transcriptionally, enhance exon recognition, or stabilize the SMN protein. We describe optimization and characterization of an analog suitable for in vivo testing. Initially, we identified analog 4m that had good in vitro properties but low plasma and brain exposure in a mouse PK experiment due to short plasma stability; this was overcome by reversing the amide bond and changing the heterocycle...
May 19, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28481224/intermittent-glucocorticoid-steroid-dosing-enhances-muscle-repair-without-eliciting-muscle-atrophy
#20
Mattia Quattrocelli, David Y Barefield, James L Warner, Andy H Vo, Michele Hadhazy, Judy U Earley, Alexis R Demonbreun, Elizabeth M McNally
Glucocorticoid steroids such as prednisone are prescribed for chronic muscle conditions such as Duchenne muscular dystrophy, where their use is associated with prolonged ambulation. The positive effects of chronic steroid treatment in muscular dystrophy are paradoxical because these steroids are also known to trigger muscle atrophy. Chronic steroid use usually involves once-daily dosing, although weekly dosing in children has been suggested for its reduced side effects on behavior. In this work, we tested steroid dosing in mice and found that a single pulse of glucocorticoid steroids improved sarcolemmal repair through increased expression of annexins A1 and A6, which mediate myofiber repair...
May 8, 2017: Journal of Clinical Investigation
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