keyword
MENU ▼
Read by QxMD icon Read
search

Spinal muscular dystrophy treatment

keyword
https://www.readbyqxmd.com/read/29981392/insights-into-the-pharmaceuticals-and-mechanisms-of-neurological-orphan-diseases-current-status-and-future-expectations
#1
REVIEW
Teodorico C Ramalho, Alexandre A de Castro, Tássia S Tavares, Maria C Silva, Daniela R Silva, Pedro H Cesar, Lucas A Santos, Elaine F F da Cunha, Eugenie Nepovimova, Kamil Kuca
Several rare or orphan diseases have been characterized that singly affect low numbers of people, but cumulatively reach ∼6%-10% of the population in Europe and in the United States. Human genetics has shown to be broadly effective when evaluating subjacent genetic defects such as orphan genetic diseases, but on the other hand, a modest progress has been achieved toward comprehending the molecular pathologies and designing new therapies. Chemical genetics, placed at the interface of chemistry and genetics, could be employed to understand the molecular mechanisms of subjacent illnesses and for the discovery of new remediation processes...
July 4, 2018: Progress in Neurobiology
https://www.readbyqxmd.com/read/29941814/targeting-tgf%C3%AE-signaling-to-address-fibrosis-using-antisense-oligonucleotides
#2
REVIEW
James T March, Golnoush Golshirazi, Viktorija Cernisova, Heidi Carr, Yee Leong, Ngoc Lu-Nguyen, Linda J Popplewell
Fibrosis results from the excessive accumulation of extracellular matrix in chronically injured tissue. The fibrotic process is governed by crosstalk between many signaling pathways. The search for an effective treatment is further complicated by the fact that there is a degree of tissue-specificity in the pathways involved, although the process is not completely understood for all tissues. A plethora of drugs have shown promise in pre-clinical models, which is not always borne out translationally in clinical trial...
June 25, 2018: Biomedicines
https://www.readbyqxmd.com/read/29926204/molecular-therapies-for-muscular-dystrophies
#3
REVIEW
Ava Y Lin, Leo H Wang
PURPOSE OF REVIEW: To construct a framework to understand the different molecular interventions for muscular dystrophy. RECENT FINDINGS: The recent approval of antisense oligonucleotides treatment for Duchenne muscular dystrophy and spinal muscular atrophy and current clinical trials using recombinant adeno-associated virus for the treatment of those diseases suggests that we are at a tipping point where we are able to treat and potentially cure muscular dystrophies...
June 21, 2018: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29890394/carbon-nanofiber-based-multiplexed-immunosensor-for-the-detection-of-survival-motor-neuron-1-cystic-fibrosis-transmembrane-conductance-regulator-and-duchenne-muscular-dystrophy-proteins
#4
Shimaa Eissa, Nawal Alshehri, Mai Abduljabbar, Anas M Abdel Rahman, Majed Dasouki, Imran Y Nizami, Mohammad A Al-Muhaizea, Mohammed Zourob
Simultaneous and point-of-care detection of multiple protein biomarkers has significant impact on patient care. Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality. Therefore, rapid detection of biomarkers specific for these three disorders in newborns offers new opportunities for early diagnosis, delaying symptoms and effective treatment. Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins...
October 15, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29860398/the-inhibition-of-ctgf-ccn2-activity-improves-muscle-and-locomotor-function-in-a-murine-als-model
#5
David Gonzalez, Daniela L Rebolledo, Lina M Correa, Felipe Court, Waldo Cerpa, Kenneth E Lipson, Brigitte van Zundert, Enrique Brandan
Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. 20% of familial ALS (fALS) cases are explained by mutations in the superoxide dismutase 1 (SOD1) enzyme. Although more than twenty years have passed since the generation of the first ALS mouse model, the precise molecular mechanisms of ALS pathogenesis remain unknown. CTGF/CCN2 is a matricellular protein with associated fibrotic activity that is up-regulated in several chronic diseases...
May 30, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#6
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
June 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29479275/the-canadian-neuromuscular-disease-registry-connecting-patients-to-national-and-international-research-opportunities
#7
Yi Wei, Anna McCormick, Alex MacKenzie, Erin O'Ferrall, Shannon Venance, Jean K Mah, Kathryn Selby, Hugh J McMillan, Garth Smith, Maryam Oskoui, Gillian Hogan, Laura McAdam, Gracia Mabaya, Victoria Hodgkinson, Josh Lounsberry, Lawrence Korngut, Craig Campbell
Introduction: Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. Methods: In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry...
February 2018: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29475375/barriers-and-facilitators-to-clinical-trial-participation-among-parents-of-children-with-pediatric-neuromuscular-disorders
#8
Holly L Peay, Barbara B Biesecker, Benjamin S Wilfond, Jill Jarecki, Kendall L Umstead, Diana M Escolar, Aad Tibben
BACKGROUND/AIMS: Pediatric rare disease presents a challenging situation of high unmet need and a limited pool of potential clinical trial participants. Understanding perspectives of parents of children who have not participated in trials may facilitate approaches to optimize participation rates. The objective of this study was to explore factors associated with parental interest in enrolling children with pediatric neuromuscular disorders in clinical trials. METHODS: Parents of individuals with Duchenne or Becker muscular dystrophy and spinal muscular atrophy were recruited through advocacy organizations, a registry, and clinics...
April 2018: Clinical Trials: Journal of the Society for Clinical Trials
https://www.readbyqxmd.com/read/29419720/minimally-invasive-surgery-for-neuromuscular-scoliosis-results-and-complications-in-a-series-of-one-hundred-patients
#9
Lotfi Miladi, Mathilde Gaume, Nejib Khouri, Michael Johnson, Vicken Topouchian, Christophe Glorion
STUDY DESIGN: A retrospective review. OBJECTIVES: To report the results of an alternative technique using a minimally invasive fusionless surgery. The originality is based on the progressive correction of the deformities with proximal and distal fixation and on the reliability of the pelvic fixation using ilio-sacral screws on osteoporotic bones. SUMMARY OF BACKGROUND DATA: Spinal deformities are common in neuromuscular diseases. Conventional treatment involves bracing, followed by spinal instrumented fusion...
February 6, 2018: Spine
https://www.readbyqxmd.com/read/29411170/the-potential-of-antisense-oligonucleotide-therapies-for-inherited-childhood-lung-diseases
#10
REVIEW
Kelly M Martinovich, Nicole C Shaw, Anthony Kicic, André Schultz, Sue Fletcher, Steve D Wilton, Stephen M Stick
Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design. Through targeting the pre-mRNA, antisense oligonucleotides can alter splicing and induce a specific spliceoform or disrupt the reading frame, target an RNA transcript for degradation through RNaseH activation, block ribosome initiation of protein translation or disrupt miRNA function...
February 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29394243/effects-of-ovariectomy-in-an-hsod1-g93a-transgenic-mouse-model-of-amyotrophic-lateral-sclerosis-als
#11
Lina Yan, Yaling Liu, Can Sun, Qian Zheng, Pengli Hao, Jingxu Zhai, Yuanyuan Liu
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive muscular dystrophy and paralysis; most ALS patients die from respiratory failure within 3 to 5 years, and there is currently no effective treatment. Some studies have indicated sex differences in the incidence of ALS, and evidence suggests a neuroprotective role for estrogen. MATERIAL AND METHODS We used human Cu/Zn superoxide dismutase (hSOD1-G93A) transgenic mice to determine the effects of ovariotomy on the onset of disease and behavior; we also used Western blotting to measure the expression of aromatase and estrogen receptors, as well as the inflammatory cytokines and apoptosis markers, in the lumbar spinal cord to determine the mechanism of estrogen-mediated neuroprotection...
February 2, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29243458/prevalence-of-life-supporting-prolonged-invasive-ventilation-support-in-finland
#12
Waltteri Siirala, Aki Vainionpää, Annette Kainu, Jaana Korpela, Klaus Olkkola, Riku Aantaa
BACKGROUND: There is no comprehensive data in our country on the prevalence of life-supporting prolonged invasive ventilation support. The objective of the survey was to clarify in all hospital districts of continental Finland the prevalence of patients who were dependent on invasive ventilation support, and the disease leading to the treatment. PATIENTS AND METHODS: The KOTIVEHNO 2015 survey was carried out as population-based cross-sectional study by sending a questionnaire to all doctors in charge of prolonged invasive ventilation support...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29236822/the-relative-frequency-of-common-neuromuscular-diagnoses-in-a-reference-center
#13
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. OBJECTIVE: To report the relative frequency of common neuromuscular diagnoses in a reference center. METHODS: A 17-year chart review of patients with suspicion of myopathy. RESULTS: Among 3,412 examinations, 1,603 (46...
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#14
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29192260/antisense-oligonucleotides-the-next-frontier-for-treatment-of-neurological-disorders
#15
REVIEW
Carlo Rinaldi, Matthew J A Wood
Antisense oligonucleotides (ASOs) were first discovered to influence RNA processing and modulate protein expression over two decades ago; however, progress translating these agents into the clinic has been hampered by inadequate target engagement, insufficient biological activity, and off-target toxic effects. Over the years, novel chemical modifications of ASOs have been employed to address these issues. These modifications, in combination with elucidation of the mechanism of action of ASOs and improved clinical trial design, have provided momentum for the translation of ASO-based strategies into therapies...
January 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29188135/benefits-of-prenatal-taurine-supplementation-in-preventing-the-onset-of-acute-damage-in-the-mdx-mouse
#16
Robert G Barker, Deanna Horvath, Chris van der Poel, Robyn M Murphy
Introduction: Duchenne Muscular Dystrophy (DMD) is a debilitating muscle wasting disorder with no cure. Safer supplements and therapies are needed to improve the severity of symptoms, as severe side effects are associated with the only effective treatment, corticosteroids. The amino acid taurine has shown promise in ameliorating dystrophic symptoms in mdx mice, an animal model of DMD, however little work is in 21-28 (d)ay animals, the period of natural peak damage. Methods: This study compares the effect of prenatal taurine supplementation on tibialis anterior (TA) in situ contractile function, histopathological characteristics and the abundance of Ca2+ -handling as well as pathologically relevant proteins in non-exercised mdx mice at 28 and 70 d...
September 22, 2017: PLoS Currents
https://www.readbyqxmd.com/read/29109789/nucleic-acid-based-theranostics-for-tackling-alzheimer-s-disease
#17
REVIEW
Madhuri Chakravarthy, Suxiang Chen, Peter R Dodd, Rakesh N Veedu
Nucleic acid-based technologies have received significant interest in recent years as novel theranostic strategies for various diseases. The approval by the United States Food and Drug Administration (FDA) of Nusinersen, an antisense oligonucleotide drug, for the treatment of spinal muscular dystrophy highlights the potential of nucleic acids to treat neurological diseases, including Alzheimer's disease (AD). AD is a devastating neurodegenerative disease characterized by progressive impairment of cognitive function and behavior...
2017: Theranostics
https://www.readbyqxmd.com/read/29095413/segmental-pedicle-screw-instrumentation-and-fusion-only-to-l5-in-the-surgical-treatment-of-flaccid-neuromuscular-scoliosis
#18
Masashi Takaso, Toshiyuki Nakazawa, Takayuki Imura, Michinari Fukuda, Kazuhisa Takahashi, Seiji Ohtori
STUDY DESIGN: A retrospective cohort study was performed. OBJECTIVE: The purpose of this study was to determine the efficacy and safety of stopping segmental pedicle screw instrumentation constructs at L5 in the treatment of neuromuscular scoliosis. SUMMARY OF BACKGROUND DATA: Duchenne muscular dystrophy and spinal muscular atrophy are flaccid neuromuscular disorders in which gradual deterioration is the hallmark and have a lot of characteristics in common despite differences in etiology...
March 1, 2018: Spine
https://www.readbyqxmd.com/read/29079012/a-historical-and-current-review-of-newborn-screening-for-neuromuscular-disorders-from-around-the-world-lessons-for-the-united-states
#19
REVIEW
Lainie Friedman Ross, Angus John Clarke
BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain...
December 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28960187/genome-engineering-a-new-approach-to-gene-therapy-for-neuromuscular-disorders
#20
REVIEW
Christopher E Nelson, Jacqueline N Robinson-Hamm, Charles A Gersbach
For many neuromuscular disorders, including Duchenne muscular dystrophy, spinal muscular atrophy and myotonic dystrophy, the genetic causes are well known. Gene therapy holds promise for the treatment of these monogenic neuromuscular diseases, and many such therapies have made substantial strides toward clinical translation. Recently, genome engineering tools, including targeted gene editing and gene regulation, have become available to correct the underlying genetic mutations that cause these diseases. In particular, meganucleases, zinc finger nucleases, TALENs, and the CRISPR-Cas9 system have been harnessed to make targeted and specific modifications to the genome...
November 2017: Nature Reviews. Neurology
keyword
keyword
164141
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"