keyword
https://read.qxmd.com/read/38543180/real-world-safety-data-of-the-orphan-drug-onasemnogene-abeparvovec-zolgensma-%C3%A2-for-the-sma-rare-disease-a-pharmacovigilance-study-based-on-the-ema-adverse-event-reporting-system
#1
JOURNAL ARTICLE
Rosanna Ruggiero, Nunzia Balzano, Maria Maddalena Nicoletti, Gabriella di Mauro, Federica Fraenza, Maria Rosaria Campitiello, Francesco Rossi, Annalisa Capuano
The recent introduction of the innovative therapy, onasemnogene abeparvovec (Zolgensma® ), has revolutionized the spinal muscular atrophy (SMA) therapeutic landscape. Although Zolgensma® therapy has proven to lead to functional improvements in SMA children, some gaps in its safety profile still need to be investigated. To better characterize the Zolgensma® safety profile, we conducted a retrospective observational study, analyzing all the Individual Case Safety Reports (ICSRs) referred to it and collected in the European pharmacovigilance database between 1 January 2019 and 22 September 2023...
March 19, 2024: Pharmaceuticals
https://read.qxmd.com/read/38542497/disruption-of-neuromuscular-junction-following-spinal-cord-injury-and-motor-neuron-diseases
#2
REVIEW
Colin Nemeth, Naren L Banik, Azizul Haque
The neuromuscular junction (NMJ) is a crucial structure that connects the cholinergic motor neurons to the muscle fibers and allows for muscle contraction and movement. Despite the interruption of the supraspinal pathways that occurs in spinal cord injury (SCI), the NMJ, innervated by motor neurons below the injury site, has been found to remain intact. This highlights the importance of studying the NMJ in rodent models of various nervous system disorders, such as amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), spinal muscular atrophy (SMA), and spinal and bulbar muscular atrophy (SBMA)...
March 20, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38540986/switching-from-nusinersen-to-risdiplam-a-croatian-real-world-experience-on-effectiveness-and-safety
#3
JOURNAL ARTICLE
Andrej Belančić, Tea Strbad, Marta Kučan Štiglić, Dinko Vitezić
(1) Background: Data on combination or sequential treatment of spinal muscular atrophy (SMA) with disease-modifying drugs (DMDs) are missing and the latter field is poorly understood. The currently available data of patients on risdiplam previously treated with nusinersen are coming from exploratory research mainly focused on safety. Our aim was to investigate the real-world effectiveness (hypothesising non-inferiority) and safety profile of risdiplam in a paediatric-and-adult nusinersen-risdiplam spinal muscular atrophy switch cohort...
February 24, 2024: Journal of Personalized Medicine
https://read.qxmd.com/read/38540372/multiplex-real-time-pcr-based-newborn-screening-for-severe-primary-immunodeficiency-and-spinal-muscular-atrophy-in-osaka-japan-our-results-after-3-years
#4
JOURNAL ARTICLE
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testing technology have made it possible to simultaneously screen for severe primary immunodeficiency (PID) and spinal muscular atrophy (SMA) using quantitative real-time polymerase chain reaction (qPCR) assays. We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan...
February 28, 2024: Genes
https://read.qxmd.com/read/38533877/carrier-screening-and-diagnosis-for-spinal-muscular-atrophy-using-droplet-digital-pcr-versus-mlpa-analytical-validation-and-early-test-outcome
#5
JOURNAL ARTICLE
Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes...
March 27, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38532567/a-real-world-study-of-nusinersen-effects-in-adults-with-spinal-muscular-atrophy-type-2-and-3
#6
JOURNAL ARTICLE
Isabelle Côté, Victoria Hodgkinson, Marianne Nury, Louis Bastenier-Boutin, Xavier Rodrigue
No abstract text is available yet for this article.
March 27, 2024: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://read.qxmd.com/read/38531362/monitoring-spinal-muscular-atrophy-with-three-dimensional-optoacoustic-imaging
#7
JOURNAL ARTICLE
Emmanuel Nedoschill, Alexandra L Wagner, Vera Danko, Adrian Buehler, Roman Raming, Jörg Jüngert, Markus F Neurath, Maximilian J Waldner, Ulrich Rother, Joachim Woelfle, Regina Trollmann, Ferdinand Knieling, Adrian P Regensburger
BACKGROUND: Spinal muscular atrophy is a progressive neuromuscular disorder and among the most frequent genetic causes of infant mortality. While recent advancements in gene therapy provide the potential to ameliorate the disease severity, there is currently no modality in clinical use to visualize dynamic pathophysiological changes in disease progression and regression after therapy. METHODS: In this prospective diagnostic clinical study, ten pediatric patients with spinal muscular atrophy and ten age- and sex-matched controls have been examined with three-dimensional optoacoustic imaging and clinical standard examinations to compare the spectral profile of muscle tissue and correlate it with motor function (ClinicalTrials...
March 18, 2024: Med
https://read.qxmd.com/read/38529620/spinal-muscular-atrophy-sma-mortality-despite-novel-medications-case-reports
#8
JOURNAL ARTICLE
John R Bach, Nayara Conceição, Miguel R Goncalves
Despite new effective medications, patients with SMA types 1-3 can continue to have inadequate cough flows to prevent episodes of acute respiratory failure. Ventilator unweanable intubated patients are thought to require tracheostomy tubes. As a result, potentially beneficial medications may be discontinued and patients die despite receiving these medications. Three cases are presented of medically treated, physically strengthening children, with SMA type 1. All three subsequently died or underwent tracheotomy...
March 25, 2024: American Journal of Physical Medicine & Rehabilitation
https://read.qxmd.com/read/38520993/rare-homozygous-disease-associated-sequence-variants-in-children-with-spinal-muscular-atrophy-a-phenotypic-description-and-review-of-the-literature
#9
Limin Li, Manoj P Menezes, Melanie Smith, Robin Forbes, Stephan Züchner, Amber Burgess, Ian R Woodcock, Martin B Delatycki, Eppie M Yiu
5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95 % of individuals with SMA have homozygous exon 7 deletions in the SMN1 gene. Most of the remaining 4-5 % are compound heterozygous for deletion and a disease-associated sequence variant in the non-deleted allele. Individuals with SMA due to bi-allelic SMN1 sequence variants have rarely been reported...
March 12, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38520738/real-world-evidence-risdiplam-in-a-patient-with-spinal-muscular-atrophy-type-i-with-a-novel-splicing-mutation-and-one-smn2-copy
#10
JOURNAL ARTICLE
Kai Ma, Kaihui Zhang, Defang Chen, Chuan Wang, Mohnad Abdalla, Haozheng Zhang, Rujin Tian, Yang Liu, Li Song, Xinyi Zhang, Fangfang Liu, Guohua Liu, Dong Wang
Spinal muscular atrophy (SMA), which results from the deletion or/and mutation in the SMN1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. SMN2 is a paralogous gene of SMN1. SMN2 copy number affects the severity of SMA, but its role in patients treated with disease modifying therapies is unclear. The most appropriate individualized treatment for SMA has not yet been determined. Here, we reported a case of SMA type I with normal breathing and swallowing function...
March 23, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38517801/natural-history-of-mandibular-function-in-spinal-muscular-atrophy-types-2-and-3
#11
JOURNAL ARTICLE
H Willemijn van Bruggen, Camiel A Wijngaarde, Faylynn Asselman, Marloes Stam, Nico H J Creugers, Renske I Wadman, W Ludo van der Pol, Stanimira I Kalaykova
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is characterized by abnormal alpha motor neuron function in brainstem and spinal cord. Bulbar dysfunction, including limited mouth opening, is present in the majority of patients with SMA but it is unknown if and how these problems change during disease course. OBJECTIVE: In this prospective, observational, longitudinal natural history study we aimed to study bulbar dysfunction in patients with SMA types 2 and 3...
March 20, 2024: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/38515714/variants-located-in-intron-6-of-smn1-lead-to-misdiagnosis-in-genetic-detection-and-screening-for-sma
#12
JOURNAL ARTICLE
Yujin Qu, Jinli Bai, Hui Jiao, Hong Qi, Wenchen Huang, Shijia OuYang, Xiaoyin Peng, Yuwei Jin, Hong Wang, Fang Song
Accurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018. However, clinicians should remain alert to some pitfalls of genetic testing that can occur when following a routine diagnosis. In this study, we report the diagnosis of three unrelated individuals who were initially misdiagnosed as carrying a homozygous deletion of SMN1 exon 7. MLPA (P060 and P021) and qPCR were used to detect the copy number of SMN ...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38512107/nutritional-and-lipid-profile-status-of-children-with-spinal-muscular-atrophy-in-china-a-retrospective-case-control-study
#13
JOURNAL ARTICLE
Yijie Feng, Jia Wei, Mei Yao, Jianing Jin, Yiqin Cui, Qi Long, Fei Chen, Yi Hong, Dongming Zhou, Jingjing Hu, Xiao Chen, Feng Gao, Changzheng Yuan, Shanshan Mao
No abstract text is available yet for this article.
March 21, 2024: Chinese Medical Journal
https://read.qxmd.com/read/38503830/troponin-t-is-elevated-in-a-relevant-proportion-of-patients-with-5q-associated-spinal-muscular-atrophy
#14
JOURNAL ARTICLE
Hanna Sophie Lapp, Maren Freigang, Johannes Friese, Sarah Bernsen, Victoria Tüngler, Maja von der Hagen, Patrick Weydt, René Günther
Troponin T concentration (TNT) is commonly considered a marker of myocardial damage. However, elevated concentrations have been demonstrated in numerous neuromuscular disorders, pointing to the skeletal muscle as a possible extracardiac origin. The aim of this study was to determine disease-related changes of TNT in 5q-associated spinal muscular atrophy (SMA) and to screen for its biomarker potential in SMA. We therefore included 48 pediatric and 45 adult SMA patients in this retrospective cross-sequential observational study...
March 19, 2024: Scientific Reports
https://read.qxmd.com/read/38502672/feasibility-and-utility-of-in-home-body-weight-support-harness-system-use-in-young-children-treated-for-spinal-muscular-atrophy-a-single-arm-prospective-cohort-study
#15
JOURNAL ARTICLE
Megan A Iammarino, Lindsay N Alfano, Natalie F Reash, Brenna Sabo, Sara Conroy, Garey Noritz, Madalynn Wendland, Linda P Lowes
PURPOSE: This single-arm prospective cohort study aimed to evaluate the feasibility and utility of in-home body weight support harness system (BWSS) use in children treated for spinal muscular atrophy (SMA). METHODS: Individuals with 2 or 3 copies of SMN2 who received pharmacotherapeutic treatment, had head control, and weight <50lbs were enrolled. Families were provided a BWSS and documented use. Motor outcome assessments were completed at baseline, month 3 and month 6...
2024: PloS One
https://read.qxmd.com/read/38493520/no-significant-sex-differences-in-incidence-or-phenotype-for-the-smn%C3%AE-7-mouse-model-of-spinal-muscular-atrophy
#16
JOURNAL ARTICLE
Nicholas C Cottam, Melissa A Harrington, Pamela M Schork, Jianli Sun
Spinal muscular atrophy (SMA) is an autosomal recessive disease that affects 1 out of every 6,000-10,000 individuals at birth, making it the leading genetic cause of infant mortality. In recent years, reports of sex differences in SMA patients have become noticeable. The SMNΔ7 mouse model is commonly used to investigate pathologies and treatments in SMA. However, studies on sex as a contributing biological variable are few and dated. Here, we rigorously investigated the effect of sex on a series of characteristics in SMA mice of the SMNΔ7 model...
March 5, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38490302/diagnosis-of-challenging-spinal-muscular-atrophy-cases-with-long-read-sequencing
#17
JOURNAL ARTICLE
Ningning Wang, Kexin Jiao, Jin He, Bochen Zhu, Nachuan Cheng, Jian Sun, Lan Chen, Wanjin Chen, Lingyun Gong, Kai Qiao, Jianying Xi, Qihan Wu, Chongbo Zhao, Wenhua Zhu
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder primarily caused by the deletion or mutation of the Survival Motor Neuron 1 (SMN1) gene. This study assesses the diagnostic potential of Long-Read Sequencing (LRS) in three SMA patients. For Patient 1, who has a heterozygous SMN1 deletion, LRS unveiled a missense mutation in SMN1 exon 5. In Patient 2, an Alu/Alu-mediated rearrangement covering the SMN1 promoter and exon 1 was identified through a blend of Multiplex Ligation-Dependent Probe Amplification (MLPA), LRS, and Gap-PCR...
March 13, 2024: Journal of Molecular Diagnostics: JMD
https://read.qxmd.com/read/38490253/reliability-and-validity-of-the-turkish-translation-of-the-pedsqltm-3-0-neuromuscular-module-for-2-to-4-year-old-in-spinal-muscular-atrophy
#18
Seval Kutlutürk Yıkılmaz, Müberra Tanrıverdi, Sedat Öktem
BACKGROUND: The Pediatric Quality of Life InventoryTM Neuromuscular Module (PedsQLTM 3.0 NM) evaluates the health-related quality of life in children who are affected by neuromuscular diseases. This study's aim is to assess the adaptation of the PedsQLTM 3.0 NM Turkish version (PedsQLTM 3.0 NM-TR) for 2-4 years old in spinal muscular atrophy (SMA). METHODS: The procedure of translating the PedsQLTM 3.0 NM into Turkish was conducted in accordance with the translation methodology outlined by the PedsQLTM measurement model...
March 15, 2024: Neuropediatrics
https://read.qxmd.com/read/38487549/serum-myostatin-as-a-candidate-disease-severity-and-progression-biomarker-of-spinal-muscular-atrophy
#19
JOURNAL ARTICLE
Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Giovanna Câmara Giudicelli, Ana Lucia Portella Staub, Arthur Carpeggiani Weber, Jordana Miranda De Souza Silva, Michele Michelin Becker, Thayne Woycinck Kowalski, Marina Siebert, Jonas Alex Morales Saute
The identification of biomarkers for spinal muscular atrophy is crucial for predicting disease progression, severity, and response to new disease-modifying therapies. This study aimed to investigate the role of serum levels of myostatin and follistatin as biomarkers for spinal muscular atrophy, considering muscle atrophy secondary to denervation as the main clinical manifestation of the disease. The study evaluated the differential gene expression of myostatin and follistatin in a lesional model of gastrocnemius denervation in mice, as well as in a meta-analysis of three datasets in transgenic mice models of spinal muscular atrophy, and in two studies involving humans with spinal muscular atrophy...
2024: Brain communications
https://read.qxmd.com/read/38487326/the-impact-of-three-smn2-gene-copies-on-clinical-characteristics-and-effect-of-disease-modifying-treatment-in-patients-with-spinal-muscular-atrophy-a-systematic-literature-review
#20
Claudia Dosi, Riccardo Masson
OBJECTIVE: To review the clinical characteristics and effect of treatment in patients with spinal muscular atrophy (SMA) and three copies of the SMN2 gene. METHODS: We conducted a literature search in October 2022 to identify English-language clinical research on SMA that included SMN2 copy number according to PRISMA guidelines. RESULTS: Our search identified 44 studies examining the impact of three SMN2 copies on clinical characteristics (21 on phenotype, 13 on natural history, and 15 on functional status and other signs/symptoms)...
2024: Frontiers in Neurology
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