keyword
https://read.qxmd.com/read/38491364/defining-clinical-endpoints-in-limb-girdle-muscular-dystrophy-a-grasp-lgmd-study
#1
JOURNAL ARTICLE
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D Mathews, Conrad C Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E Johnson
BACKGROUND: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders. METHODS/DESIGN: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes...
March 15, 2024: BMC Neurology
https://read.qxmd.com/read/38357257/molecular-diagnosis-of-limb-girdle-muscular-dystrophy-using-next-generation-sequencing-panels
#2
JOURNAL ARTICLE
Gamze Sarıkaya Uzan, Ceren Yılmaz Uzman, Tayfun Çinleti, Çağatay Günay, Ayfer Ülgenalp, Semra Hız Kurul, Uluç Yiş
INTRODUCTION: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD. METHODS: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity...
February 2024: Molecular Syndromology
https://read.qxmd.com/read/38175727/the-super-healing-mrl-strain-promotes-muscle-growth-in-muscular-dystrophy-through-a-regenerative-extracellular-matrix
#3
JOURNAL ARTICLE
Joseph G O'Brien, Alexander B Willis, Ashlee M Long, Jason M Kwon, GaHyun Lee, Frank W Li, Patrick Gt Page, Andy H Vo, Michele Hadhazy, Melissa J Spencer, Rachelle H Crosbie, Alexis R Demonbreun, Elizabeth M McNally
The Murphy Roths Large (MRL) mouse strain has "super-healing" properties that enhance recovery from injury. In mice, the DBA/2J strain intensifies many aspects of muscular dystrophy so we evaluated the ability of the MRL strain to suppress muscular dystrophy in the Sgcg null mouse model of limb girdle muscular dystrophy. A comparative analysis of Sgcg null mice in the DBA/2J versus MRL strains showed greater myofiber regeneration with reduced structural degradation of muscle in the MRL strain. Transcriptomic profiling of dystrophic muscle indicated strain-dependent expression of the extracellular matrix (ECM) and TGF-β signaling genes...
January 4, 2024: JCI Insight
https://read.qxmd.com/read/38040038/effectiveness-of-splashguard-caregivers-prototype-in-reducing-the-risk-of-aerosol-transmission-in-intensive-care-unit-rooms-of-sars-cov-2-patients-a-prospective-and-simulation-study
#4
JOURNAL ARTICLE
Cecilia Rotava Buratti, Marc Veillette, Armelle Bridier, Carl Eric Aubin, Mélanie Lebrun, Arul Kumaran Ammaiyappan, Emmanuel Vanoli, Cyril Crawford, Caroline Duchaine, Philippe Jouvet
BACKGROUND: The contagiousness of SARS-CoV-2 is known to be linked to the emission of bioaerosols. Thus, clinical patient manipulation called "aerosol-generating procedures" (AGP) could increase the risk of healthcare worker (HCW) developing an infection. AIM: To investigate the impact of an aerosol protection box, the SplashGuard Caregivers (SGGC) with suction system, by direct analysis of the presence of viral particles after an AGP and by using the Computational Fluid Dynamics (CFD) simulation method...
November 29, 2023: Journal of Hospital Infection
https://read.qxmd.com/read/37900130/identification-of-optimal-feature-genes-in-patients-with-thyroid-associated-ophthalmopathy-and-their-relationship-with-immune-infiltration-a-bioinformatics-analysis
#5
JOURNAL ARTICLE
Chao Xiong, Yaohua Wang, Yue Li, Jinhai Yu, Sha Wu, Lili Wu, Boyuan Zhang, Yunxiu Chen, Puying Gan, Hongfei Liao
BACKGROUND: Thyroid associated ophthalmopathy (TAO) is an organ-specific autoimmune disease that has a significant impact on individuals and society. The etiology of TAO is complicated and poorly understood. Thus, the goal of this study was to use bioinformatics to look into the pathogenesis of TAO and to identify the optimum feature genes (OFGs) and immune infiltration patterns of TAO. METHODS: Firstly, the GSE58331 microarray data set was utilized to find 366 differentially expressed genes (DEGs)...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37886601/defining-clinical-endpoints-in-limb-girdle-muscular-dystrophy-a-grasp-lgmd-study
#6
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Kathy Mathews, Conrad C Weihl, Matthew Wicklund, Jeffery Statland, Nicholas E Johnson, Grasp-Lgmd Consortium
Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders. Methods/design: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes...
October 6, 2023: Research Square
https://read.qxmd.com/read/37852290/single-centre-experience-with-autosomal-recessive-limb-girdle-muscular-dystrophy-case-series-and-literature-review
#7
JOURNAL ARTICLE
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort...
October 18, 2023: Arquivos de Neuro-psiquiatria
https://read.qxmd.com/read/37688281/combined-sequence-and-copy-number-analysis-improves-diagnosis-of-limb-girdle-and-other-myopathies
#8
JOURNAL ARTICLE
Babi R R Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde
OBJECTIVE: Clinical and genetic heterogeneities make diagnosis of limb-girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence-based multi-gene panel ("The Lantern Focused Neuromuscular Panel") to detect both sequence variants and copy number variants in one assay. METHODS: Patients with clinical diagnosis of LGMD or other overlapping muscular dystrophies in the United States were tested by PerkinElmer Genomics in 2018-2021 via "The Lantern Project," a sponsored diagnostic testing program...
September 8, 2023: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/37526466/genetic-findings-in-czech-patients-with-limb-girdle-muscular-dystrophy
#9
JOURNAL ARTICLE
Jana Zídková, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Jana Haberlová, Radim Mazanec, Stanislav Voháňka, Andrea Gřegořová, Martina Langová, Tomáš Honzík, Jana Šoukalová, Hana Ošlejšková, Pavla Solařová, Emílie Vyhnálková, Lenka Fajkusová
Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty-four variants have been described only in the Czech LGMD population so far. LGMD R1 caplain3-related is the most frequent subtype of LGMD involving 53...
November 2023: Clinical Genetics
https://read.qxmd.com/read/37425960/the-super-healing-mrl-strain-promotes-muscle-growth-in-muscular-dystrophy-through-a-regenerative-extracellular-matrix
#10
Joseph G O'Brien, Alexander B Willis, Ashlee M Long, Jason Kwon, GaHyun Lee, Frank Li, Patrick G T Page, Andy H Vo, Michele Hadhazy, Rachelle H Crosbie, Alexis R Demonbreun, Elizabeth M McNally
UNLABELLED: Genetic background shifts the severity of muscular dystrophy. In mice, the DBA/2J strain confers a more severe muscular dystrophy phenotype, whereas the Murphy's Roth Large (MRL) strain has "super-healing" properties that reduce fibrosis. A comparative analysis of the Sgcg null model of Limb Girdle Muscular Dystrophy in the DBA/2J versus MRL strain showed the MRL background was associated with greater myofiber regeneration and reduced structural degradation of muscle. Transcriptomic profiling of dystrophic muscle in the DBA/2J and MRL strains indicated strain-dependent expression of the extracellular matrix (ECM) and TGF-β signaling genes...
June 30, 2023: bioRxiv
https://read.qxmd.com/read/37108089/unveiling-the-genomic-basis-of-chemosensitivity-in-sarcomas-of-the-extremities-an-integrated-approach-for-an-unmet-clinical-need
#11
JOURNAL ARTICLE
Silvia Vanni, Valentina Fausti, Eugenio Fonzi, Chiara Liverani, Giacomo Miserocchi, Chiara Spadazzi, Claudia Cocchi, Chiara Calabrese, Lorena Gurrieri, Nada Riva, Federica Recine, Roberto Casadei, Federica Pieri, Ania Naila Guerrieri, Massimo Serra, Toni Ibrahim, Laura Mercatali, Alessandro De Vita
Myxofibrosarcoma (MFS) and undifferentiated pleomorphic sarcoma (UPS) can be considered as a spectrum of the same disease entity, representing one of the most common adult soft tissue sarcoma (STS) of the extremities. While MFS is rarely metastasizing, it shows an extremely high rate of multiple frequent local recurrences (50-60% of cases). On the other hand, UPS is an aggressive sarcoma prone to distant recurrence, which is correlated to a poor prognosis. Differential diagnosis is challenging due to their heterogeneous morphology, with UPS remaining a diagnosis of exclusion for sarcomas with unknown differentiation lineage...
April 8, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36992678/targeted-next-generation-sequencing-determined-a-novel-sgcg-variant-that-is-associated-with-limb-girdle-muscular-dystrophy-type-2c-a-case-report
#12
Nam-Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc-Dung Nguyen, Chi Dung Vu, Van-Hung Nguyen, The-Hung Bui, Thanh Van Ta, Van Khanh Tran
Limb-girdle muscular dystrophy-type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26-year-old male who had inactive walking due to proximal muscle weakness. Targeted next-generation sequencing found a novel variant c.412C > T (Q138*) in the SGCG gene.
March 2023: Clinical Case Reports
https://read.qxmd.com/read/36816759/systemic-%C3%AE-sarcoglycan-aav-gene-transfer-results-in-dose-dependent-correction-of-muscle-deficits-in-the-lgmd-2c-r5-mouse-model
#13
JOURNAL ARTICLE
Young-Eun Seo, Stephen H Baine, Amber N Kempton, Oliver C Rogers, Sarah Lewis, Kaitlin Adegboye, Alex Haile, Danielle A Griffin, Ellyn L Peterson, Eric R Pozsgai, Rachael A Potter, Louise R Rodino-Klapac
Limb-girdle muscular dystrophy (LGMD) type 2C/R5 results from mutations in the γ-sarcoglycan ( SGCG ) gene and is characterized by muscle weakness and progressive wasting. Loss of functional γ-sarcoglycan protein in the dystrophin-associated protein complex destabilizes the sarcolemma, leading to eventual myofiber death. The SGCG knockout mouse ( SGCG -/- ) has clinical-pathological features that replicate the human disease, making it an ideal model for translational studies. We designed a self-complementary rAAVrh74 vector containing a codon-optimized human SGCG transgene driven by the muscle-specific MHCK7 promoter (SRP-9005) to investigate adeno-associated virus (AAV)-mediated SGCG gene transfer in SGCG -/- mice as proof of principle for LGMD 2C/R5...
March 9, 2023: Molecular Therapy. Methods & Clinical Development
https://read.qxmd.com/read/36401044/effects-of-glucocorticoids-in-murine-models-of-duchenne-and-limb-girdle-muscular-dystrophy
#14
JOURNAL ARTICLE
Michelle Wintzinger, Karen Miz, Allen York, Alexis R Demonbreun, Jeffery D Molkentin, Elizabeth M McNally, Mattia Quattrocelli
In vivo testing of glucocorticoid steroids in dystrophic mice offers important insights in benefits and risks of those drugs in the pathological context of muscular dystrophy. Frequency of dosing changes the spectrum of glucocorticoid effects on muscle and metabolic homeostasis. Here, we describe a combination of non-invasive and invasive methods to quantitatively discriminate the specific effects of intermittent (once-weekly) versus mainstay (once-daily) regimens on muscle fibrosis, muscle function, and metabolic homeostasis in murine models of Duchenne and limb-girdle muscular dystrophies...
2023: Methods in Molecular Biology
https://read.qxmd.com/read/36292638/homozygous-inversion-on-chromosome-13-involving-sgcg-detected-by-short-read-whole-genome-sequencing-in-a-patient-suffering-from-limb-girdle-muscular-dystrophy
#15
JOURNAL ARTICLE
Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum, Simone Rost
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases, there is a strong suspicion that the cause must lie in unexplored gene areas, such as deep-intronic or other non-coding regions. In order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it possible to sequence entire genomes to reveal these previously uninvestigated regions...
September 28, 2022: Genes
https://read.qxmd.com/read/35813381/first-identification-of-rare-exonic-and-deep-intronic-splice-altering-variants-in-patients-with-beta-sarcoglycanopathy
#16
JOURNAL ARTICLE
Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan
Background: The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients from two unrelated families with a suspected sarcoglycanopathy or dystrophinopathy based on their clinical, radiological, and pathological features, for whom routine genomic detection approaches failed to yield a definite genetic diagnosis...
2022: Frontiers in Pediatrics
https://read.qxmd.com/read/35796564/comparative-genomic-analyses-of-multiple-backcross-mouse-populations-suggest-sgcg-as-a-novel-potential-obesity-modifier-gene
#17
JOURNAL ARTICLE
Tanja Kuhn, Katharina Kaiser, Sandra Lebek, Delsi Altenhofen, Birgit Knebel, Ralf Herwig, Axel Rasche, Angela Pelligra, Sarah Görigk, Jenny Minh-An Khuong, Heike Vogel, Annette Schürmann, Matthias Blüher, Alexandra Chadt, Hadi Al-Hasani
To nominate novel disease genes for obesity and type 2 diabetes (T2D), we recently generated two mouse backcross populations of the T2D-susceptible New Zealand Obese (NZO/HI) mouse strain and two genetically different, lean and T2D-resistant strains, 129P2/OlaHsd and C3HeB/FeJ. Comparative linkage analysis of our two female backcross populations identified seven novel body fat-associated quantitative trait loci (QTL). Only the locus Nbw14 (NZO body weight on chromosome 14) showed linkage to obesity-related traits in both backcross populations, indicating that the causal gene variant is likely specific for the NZO strain as NZO allele carriers in both crosses displayed elevated body weight and fat mass...
July 7, 2022: Human Molecular Genetics
https://read.qxmd.com/read/35416532/clinical-genetic-profile-and-disease-progression-of-sarcoglycanopathies-in-a-large-cohort-from-india-high-prevalence-of-sgcb-c-544a-c
#18
JOURNAL ARTICLE
Mainak Bardhan, Ram Murthy Anjanappa, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Shamita Sanga, Hansashree Padmanabh, Ravi Kiran Valasani, Vikas Nishadham, Muddasu Keerthipriya, Thenral S Geetha, Vedam Ramprasad, Gautham Arunachal, Priya Treesa Thomas, Moulinath Acharya, Atchayaram Nalini
The clinico-genetic architecture of sarcoglycanopathies in Indian patients is reported only as short series. In the present study, we aimed to investigate the clinical picture, genetic basis, and disease progression of patients genetically confirmed to have sarcoglycanopathy. Next-generation sequencing was performed in 68 probands with suspected sarcoglycanopathy. A total of 35 different variants were detected in the sarcoglycan genes in 68 probands (M = 37; age range, 5-50 years). Consanguinity was present in 44 families...
July 2022: Neurogenetics
https://read.qxmd.com/read/35065666/novel-%C3%AE-sarcoglycan-interactors-in-murine-muscle-membranes
#19
JOURNAL ARTICLE
Tara C Smith, Georgios Vasilakos, Scott A Shaffer, Jason M Puglise, Chih-Hsuan Chou, Elisabeth R Barton, Elizabeth J Luna
BACKGROUND: The sarcoglycan complex (SC) is part of a network that links the striated muscle cytoskeleton to the basal lamina across the sarcolemma. The SC coordinates changes in phosphorylation and Ca++ -flux during mechanical deformation, and these processes are disrupted with loss-of-function mutations in gamma-sarcoglycan (Sgcg) that cause Limb girdle muscular dystrophy 2C/R5. METHODS: To gain insight into how the SC mediates mechano-signaling in muscle, we utilized LC-MS/MS proteomics of SC-associated proteins in immunoprecipitates from enriched sarcolemmal fractions...
January 22, 2022: Skeletal Muscle
https://read.qxmd.com/read/34624274/the-utility-of-whole-exome-sequencing-in-accurate-diagnosis-of-neuromuscular-disorders-in-consanguineous-families-in-jordan
#20
JOURNAL ARTICLE
Nidaa A Ababneh, Dema Ali, Ban Al-Kurdi, Raghda Barham, Isam K Bsisu, Deema Dababseh, Sally Arafat, Asim N Khanfar, Leen Makahleh, Abdee T Ryalat, Malik Sallam, Mohammed El-Khateeb, Basil Sharrack, Abdalla Awidi
BACKGROUND: Neuromuscular disorders (NMDs) encompass a large group of genetic and acquired diseases affecting muscles, leading to progressive muscular weakness. These disorders are frequently inherited in an autosomal-recessive (AR) pattern with extreme heterogeneity and various clinical presentations. Consanguinity increases the likelihood of AR disorders, with high rates of cousin inbreeding in Jordan and other Arab countries. In Jordan, the implementation of genetic diagnosis is limited, with delayed or misdiagnosis of genetic disorders...
October 5, 2021: Clinica Chimica Acta; International Journal of Clinical Chemistry
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