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https://www.readbyqxmd.com/read/29327642/effects-of-arm-cycling-exercise-in-spinal-muscular-atrophy-type-ii-patients-a-pilot-study
#1
Gamze Bora, Şulenur Subaşı-Yıldız, Ayşe Yeşbek-Kaymaz, Numan Bulut, İpek Alemdaroğlu, Öznur Tunca-Yılmaz, Haluk Topaloğlu, Aynur Ayşe Karaduman, Hayat Erdem-Yurter
Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 ( SMN1) gene mutations, are drawing attention due to its beneficial effects. In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise. The physical functions were evaluated together with the SMN2 copy numbers, SMN protein levels, insulin-like growth factor 1(IGF1) and binding protein 3 (IGFBP3) levels...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29326874/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#2
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29325609/the-cag-polyglutamine-repeat-diseases-a-clinical-molecular-genetic-and-pathophysiologic-nosology
#3
Colleen A Stoyas, Albert R La Spada
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to an elongated polyglutamine (polyQ) tract in the resultant protein product, and accounts for a unique category of neurodegenerative disorders, known as the CAG-polyglutamine repeat diseases. The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29316633/investigation-of-new-morpholino-oligomers-to-increase-survival-motor-neuron-protein-levels-in-spinal-muscular-atrophy
#4
Agnese Ramirez, Sebastiano G Crisafulli, Mafalda Rizzuti, Nereo Bresolin, Giacomo P Comi, Stefania Corti, Monica Nizzardo
Spinal muscular atrophy (SMA) is an autosomal-recessive childhood motor neuron disease and the main genetic cause of infant mortality. SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene, which results in SMN protein deficiency. Only one approved drug has recently become available and allows for the correction of aberrant splicing of the paralogous SMN2 gene by antisense oligonucleotides (ASOs), leading to production of full-length SMN protein. We have already demonstrated that a sequence of an ASO variant, Morpholino (MO), is particularly suitable because of its safety and efficacy profile and is both able to increase SMN levels and rescue the murine SMA phenotype...
January 6, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29313812/pathogenic-commonalities-between-spinal-muscular-atrophy-and-amyotrophic-lateral-sclerosis-converging-roads-to-therapeutic-development
#5
REVIEW
Melissa Bowerman, Lyndsay M Murrray, Frédérique Scamps, Bernard L Schneider, Rashmi Kothary, Cédric Raoul
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene whilst ALS, albeit being mostly sporadic, can also be caused by mutations within genes, including superoxide dismutase 1 (SOD1), Fused in Sarcoma (FUS), TAR DNA-binding protein 43 (TDP-43) and chromosome 9 open reading frame 72 (C9ORF72)...
December 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#6
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29305266/pre-emptive-awake-airway-management-under-dexmedetomidine-sedation-in-a-parturient-with-spinal-muscular-atrophy-type-2
#7
C A Godlewski, P F Castellanos
Historically, pregnancy in females with spinal muscular atrophy was contraindicated due to the great risk to the parturient, but with improved management and increased survival more patients are becoming pregnant. We describe the management of a pregnant patient with spinal muscular atrophy type-2, who had severe restrictive lung disease, extensive spinal fusion that precluded neuraxial anesthesia, and chronic respiratory failure on nocturnal Bilevel Positive Airway Pressure. Airway management was further complicated by limited mouth opening and cervical spine ankylosis...
November 13, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29305137/diagnosis-and-management-of-spinal-muscular-atrophy-part-2-pulmonary-and-acute-care-medications-supplements-and-immunizations-other-organ-systems-and-ethics
#8
Richard S Finkel, Eugenio Mercuri, Oscar H Meyer, Anita K Simonds, Mary K Schroth, Robert J Graham, Janbernd Kirschner, Susan T Iannaccone, Thomas O Crawford, Simon Woods, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Ying Qian, Thomas Sejersen
This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications. Ethical issues and the choice of palliative versus supportive care are also addressed. These recommendations are becoming increasingly relevant given recent clinical trials and the prospect that commercially available therapies will likely change the survival and natural history of this disease...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29302496/selective-pectoralis-major-muscle-denervation-in-breast-reconstruction-a-technical-modification-for-more-effective-and-cosmetic-results
#9
Marco Bernini, Donato Casella, Carlo Mariotti
The use of pectoralis major muscle (PMM) in breast reconstruction has been a mainstay for decades. In recent years, although, a novel approach, the so-called subcutaneous or pre-pectoral breast reconstruction, has been introduced advocating the advantages of sparing the pectoralis muscle. Such advantages include more natural implant ptosis and appearance, significant reduction of capsular contracture and also avoidance of implant animation and animation deformities. These are all drawbacks that the use of muscles in implant coverage inevitably involves overtime...
December 2017: Gland Surgery
https://www.readbyqxmd.com/read/29299199/swimming-training-alleviated-insulin-resistance-through-wnt3a-%C3%AE-catenin-signaling-in-type-2-diabetic-rats
#10
Qiang Yang, Wen-Wen Wang, Pu Ma, Zhong-Xuan Ma, Meng Hao, Temitope I Adelusi, Lei-Du, Xiao-Xing Yin, Qian Lu
Objectives: Increasing evidence suggests that regular physical exercise improves type 2 diabetes mellitus (T2DM). However, the potential beneficial effects of swimming on insulin resistance and lipid disorder in T2DM, and its underlying mechanisms remain unclear. Materials and Methods: Rats were fed with high fat diet and given a low dosage of Streptozotocin (STZ) to induce T2DM model, and subsequently treated with or without swimming exercise. An 8-week swimming program (30, 60 or 120 min per day, 5 days per week) decreased body weight, fasting blood glucose and fasting insulin...
November 2017: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/29298901/five-year-follow-up-and-outcomes-of-noninvasive-ventilation-in-subjects-with-neuromuscular-diseases
#11
Mi Ri Suh, Won Ah Choi, Dong Hyun Kim, Jang Woo Lee, Eun Young Kim, Seong-Woong Kang
INTRODUCTION: The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. METHODS: We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group...
January 3, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29298295/synchrotron-microtomography-of-a-nothosaurus-marchicus-skull-informs-on-nothosaurian-physiology-and-neurosensory-adaptations-in-early-sauropterygia
#12
Dennis F A E Voeten, Tobias Reich, Ricardo Araújo, Torsten M Scheyer
Nothosaurs form a subclade of the secondarily marine Sauropterygia that was well represented in late Early to early Late Triassic marine ecosystems. Here we present and discuss the internal skull anatomy of the small piscivorous nothosaur Nothosaurus marchicus from coastal to shallow marine Lower Muschelkalk deposits (Anisian) of Winterswijk, The Netherlands, which represents the oldest sauropterygian endocast visualized to date. The cranial endocast is only partially encapsulated by ossified braincase elements...
2018: PloS One
https://www.readbyqxmd.com/read/29290580/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for-diagnosis-rehabilitation-orthopedic-and-nutritional-care
#13
Eugenio Mercuri, Richard S Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H Meyer, Anita K Simonds, Mary K Schroth, Robert J Graham, Janbernd Kirschner, Susan T Iannaccone, Thomas O Crawford, Simon Woods, Ying Qian, Thomas Sejersen
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29281826/converging-mechanisms-of-p53-activation-drive-motor-neuron-degeneration-in-spinal-muscular-atrophy
#14
Christian M Simon, Ya Dai, Meaghan Van Alstyne, Charalampia Koutsioumpa, John G Pagiazitis, Joshua I Chalif, Xiaojian Wang, Joseph E Rabinowitz, Christopher E Henderson, Livio Pellizzoni, George Z Mentis
The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons. Here, we show that cell-autonomous activation of p53 occurs in vulnerable but not resistant motor neurons of SMA mice at pre-symptomatic stages. Moreover, pharmacological or genetic inhibition of p53 prevents motor neuron death, demonstrating that induction of p53 signaling drives neurodegeneration. At late disease stages, however, nuclear accumulation of p53 extends to resistant motor neurons and spinal interneurons but is not associated with cell death...
December 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/29280463/cavernous-nerve-injury-by-radiation-therapy-may-potentiate-erectile-dysfunction-in-rats
#15
Javed Mahmood, Caroline Q Connors, Allen A Alexander, Radmila Pavlovic, Santanu Samanta, Sandrine Soman, Hotaka Matsui, Nikolai A Sopko, Trinity J Bivalacqua, Daniel Weinreich, Cheng-Ying Ho, John Eley, Amit Sawant, Isabel L Jackson, Zeljko Vujaskovic
PURPOSE/OBJECTIVES: Radiation-induced erectile-dysfunction (RiED) is one of the most common side effects of radiation therapy (RT) and significantly reduces the quality of life (QoL) of cancer patients. Approximately 50% of prostate cancer patients experience RiED within 3 to 5 years after completion of RT. A series of vascular, muscular, and neurogenic injuries after prostate RT lead to RiED; however, the precise role of RT-induced neurogenic injury in RiED has not been fully established...
November 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29273277/novel-bicd2-mutation-in-a-japanese-family-with-autosomal-dominant-lower-extremity-predominant-spinal-muscular-atrophy-2
#16
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki
INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. PATIENTS: The proband was the father, aged 30, and the son was aged 3...
December 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29261177/reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#17
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29260486/an-evidence-based-community-engaged-approach-to-develop-an-interactive-deliberation-tool-for-pediatric-neuromuscular-trials
#18
Rebecca R Moultrie, Megan A Lewis, Ryan S Paquin, Ann Lucas, Jill Jarecki, Holly L Peay
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29259166/inhibition-of-autophagy-delays-motoneuron-degeneration-and-extends-lifespan-in-a-mouse-model-of-spinal-muscular-atrophy
#19
Antonio Piras, Lorenzo Schiaffino, Marina Boido, Valeria Valsecchi, Michela Guglielmotto, Elena De Amicis, Julien Puyal, Ana Garcera, Elena Tamagno, Rosa M Soler, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (SMN1). SMA is characterized by motor impairment, muscle atrophy, and premature death following motor neuron (MN) degeneration. Emerging evidence suggests that dysregulation of autophagy contributes to MN degeneration. We here investigated the role of autophagy in the SMNdelta7 mouse model of SMA II (intermediate form of the disease) which leads to motor impairment by postnatal day 5 (P5) and to death by P13...
December 20, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29249939/co-expression-patterns-between-atn1-and-atxn2-coincide-with-brain-regions-affected-in-huntington-s-disease
#20
Arlin Keo, N Ahmad Aziz, Oleh Dzyubachyk, Jeroen van der Grond, Willeke M C van Roon-Mom, Boudewijn P F Lelieveldt, Marcel J T Reinders, Ahmed Mahfouz
Cytosine-adenine-guanine (CAG) repeat expansions in the coding regions of nine polyglutamine (polyQ) genes (HTT, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATN1, AR, and TBP) are the cause of several neurodegenerative diseases including Huntington's disease (HD), six different spinocerebellar ataxias (SCAs), dentatorubral-pallidoluysian atrophy, and spinobulbar muscular atrophy. The expanded CAG repeat length in the causative gene is negatively related to the age-at-onset (AAO) of clinical symptoms. In addition to the expanded CAG repeat length in the causative gene, the normal CAG repeats in the other polyQ genes can affect the AAO, suggesting functional interactions between the polyQ genes...
2017: Frontiers in Molecular Neuroscience
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