keyword
https://read.qxmd.com/read/38545625/newborn-screening-for-duchenne-muscular-dystrophy-the-perspectives-of-stakeholders
#1
JOURNAL ARTICLE
Charli Ji, Didu S Kariyawasam, Hugo Sampaio, Michelle Lorentzos, Kristi J Jones, Michelle A Farrar
BACKGROUND: The rapidly evolving clinical landscape of Duchenne muscular dystrophy (DMD) is driving innovative approaches for early diagnosis through genomic newborn bloodspot screening (NBS). However, the potential impact of these programs on families and healthcare systems remains unexplored. This study assessed the perceived benefits, harms, barriers, and enablers for DMD NBS amongst primary caregivers of children with DMD and healthcare professionals (HCPs). METHODS: This Australian multi-centre cross-sectional study used a mixed-methods convergent methodology...
April 2024: The Lancet Regional Health. Western Pacific
https://read.qxmd.com/read/38545205/a-novel-deep-intronic-variant-introduce-dystrophin-pseudoexon-in-becker-muscular-dystrophy-a-case-report
#2
Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie
Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most likely due to structural chromosome rearrangements and/or deep intronic pseudoexon-activating variants. Here, we report on a boy with a suspected diagnosis of Becker muscular dystrophy (BMD) who remained without a detectable DMD variant after exonic DNA-based standard genetic testing...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38542895/uncovering-the-power-of-gpr18-signalling-how-rvd2-and-other-ligands-could-have-the-potential-to-modulate-and-resolve-inflammation-in-various-health-disorders
#3
REVIEW
Ewelina Honkisz-Orzechowska, Dorota Łażewska, Grzegorz Baran, Katarzyna Kieć-Kononowicz
The resolution of inflammation is the primary domain of specialised pro-resolving mediators (SPMs), which include resolvins, protectins, and their forms synthesised under the influence of aspirin and the maresins. The role of these SPMs has been discussed by many authors in the literature, with particular reference to neuroinflammation and significant neurological disorders. This review discusses the role of G protein-coupled receptor 18 (GPR18), resolvin D2 (RvD2) activity, and the GPR18-RvD2 signalling axis, as well as the role of small molecule ligands of GPR18 in inflammation in various health disorders (brain injuries, neuropathic pain, neurodegenerative/cardiometabolic/cardiovascular/gastrointestinal diseases, peritonitis, periodontitis, asthma and lung inflammation, Duchenne muscular dystrophy, SARS-CoV-2-induced inflammation, and placenta disorders...
March 12, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://read.qxmd.com/read/38540736/mitochondrial-transplantation-therapy-ameliorates-muscular-dystrophy-in-mdx-mouse-model
#4
JOURNAL ARTICLE
Mikhail V Dubinin, Irina B Mikheeva, Anastasia E Stepanova, Anastasia D Igoshkina, Alena A Cherepanova, Alena A Semenova, Vyacheslav A Sharapov, Igor I Kireev, Konstantin N Belosludtsev
Duchenne muscular dystrophy is caused by loss of the dystrophin protein. This pathology is accompanied by mitochondrial dysfunction contributing to muscle fiber instability. It is known that mitochondria-targeted in vivo therapy mitigates pathology and improves the quality of life of model animals. In the present work, we applied mitochondrial transplantation therapy (MTT) to correct the pathology in dystrophin-deficient mdx mice. Intramuscular injections of allogeneic mitochondria obtained from healthy animals into the hind limbs of mdx mice alleviated skeletal muscle injury, reduced calcium deposits in muscles and serum creatine kinase levels, and improved the grip strength of the hind limbs and motor activity of recipient mdx mice...
March 7, 2024: Biomolecules
https://read.qxmd.com/read/38540201/amelioration-of-morphological-pathology-in-cardiac-respiratory-and-skeletal-muscles-following-intraosseous-administration-of-human-dystrophin-expressing-chimeric-dec-cells-in-duchenne-muscular-dystrophy-model
#5
JOURNAL ARTICLE
Maria Siemionow, Katarzyna Budzynska, Kristina Zalants, Paulina Langa, Sonia Brodowska, Krzysztof Siemionow, Ahlke Heydemann
Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutation in the dystrophin gene. Currently there is no cure for DMD. We introduced a novel human Dystrophin Expressing Chimeric (DEC) cell therapy of myoblast origin and confirmed the safety and efficacy of DEC in the mdx mouse models of DMD. In this study, we assessed histological and morphological changes in the cardiac, diaphragm, and gastrocnemius muscles of the mdx / scid mice after the transplantation of human DEC therapy via the systemic-intraosseous route...
March 6, 2024: Biomedicines
https://read.qxmd.com/read/38539027/population-longitudinal-analysis-of-gait-profile-score-and-north-star-ambulatory-assessment-in-children-with-duchenne-muscular-dystrophy
#6
JOURNAL ARTICLE
Jiexin Deng, Fangli Liu, Zhifen Feng, Zhigang Liu
Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder characterized by loss-of-function mutations in the gene encoding dystrophin. These mutations lead to progressive functional deterioration including muscle weakness, respiratory insufficiency, and musculoskeletal deformities. Three-dimensional gait analysis (3DGA) has been used as a tool to analyze gait pathology through the quantification of altered joint kinematics, kinetics, and muscle activity patterns. Among 3DGA indices, the Gait Profile Score (GPS), has been used as a sensitive overall measure to detect clinically relevant changes in gait patterns in children with DMD...
March 27, 2024: CPT: Pharmacometrics & Systems Pharmacology
https://read.qxmd.com/read/38533726/conformational-fingerprinting-with-raman-spectroscopy-reveals-protein-structure-as-a-translational-biomarker-of-muscle-pathology
#7
JOURNAL ARTICLE
James J P Alix, Maria Plesia, Alexander P Dudgeon, Catherine A Kendall, Channa Hewamadduma, Marios Hadjivassiliou, Gráinne S Gorman, Robert W Taylor, Christopher J McDermott, Pamela J Shaw, Richard J Mead, John C Day
Neuromuscular disorders are a group of conditions that can result in weakness of skeletal muscles. Examples include fatal diseases such as amyotrophic lateral sclerosis and conditions associated with high morbidity such as myopathies (muscle diseases). Many of these disorders are known to have abnormal protein folding and protein aggregates. Thus, easy to apply methods for the detection of such changes may prove useful diagnostic biomarkers. Raman spectroscopy has shown early promise in the detection of muscle pathology in neuromuscular disorders and is well suited to characterising the conformational profiles relating to protein secondary structure...
March 27, 2024: Analyst
https://read.qxmd.com/read/38530354/atrogin-1-promotes-muscle-homeostasis-by-regulating-levels-of-endoplasmic-reticulum-chaperone-bip
#8
JOURNAL ARTICLE
Avnika A Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P Hardee, Gordon S Lynch, Lee B Miles, Ashley Siegel, Thomas E Hall, Ralf B Schittenhelm, Peter D Currie
Skeletal muscle wasting results from numerous pathological conditions impacting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulting in increased proteolytic degradation of target proteins. Despite the critical role E3 ubiquitin ligases in regulating muscle mass, the specific proteins they target for degradation and the mechanisms by which they regulate skeletal muscle homeostasis remain ill-defined...
March 26, 2024: JCI Insight
https://read.qxmd.com/read/38526366/-sudden-cardiac-death-in-duchenne-muscular-dystrophy
#9
JOURNAL ARTICLE
Marcello Marcì, Grazia Crescimanno, Paola Vaccaro
No abstract text is available yet for this article.
April 2024: Giornale Italiano di Cardiologia
https://read.qxmd.com/read/38525691/integrated-biocompatible-3d-printed-isoporous-membranes-with-7-%C3%AE-m-pores
#10
JOURNAL ARTICLE
Matthew S Viglione, Aubrianna Saxton, Dawson Downs, Adam T Woolley, Kenneth A Christensen, Pam M Van Ry, Gregory P Nordin
In this work, we present a new 3D printing technique that enables the realization of native digital micro-mirror device (DMD) resolution in negative features of a 3D printed part without improving 3D printer hardware and demonstrate the fabrication of fully integrated, biocompatible isoporous membranes with pore sizes as small as 7 μm. We utilize this technique to construct a microfluidic device that mimics an established organ-on-a-chip configuration, including an integrated isoporous membrane. Two cell populations are seeded on either side of the membrane and imaged as a proof of concept for other organ-on-a-chip applications...
March 25, 2024: Lab on a Chip
https://read.qxmd.com/read/38525572/contribution-of-a-bonded-scholarship-scheme-to-staffing-rural-health-facilities
#11
JOURNAL ARTICLE
R G MacGregor, A J Ross
BACKGROUND: Local and international research has identified rural origin as an important reason why healthcare professionals (HCPs) work in rural areas, and in South Africa (SA) considerable effort has gone into recruiting and training rural-origin students. However, there is little information in the SA literature on where graduates supported by these initiatives work, and whether they contribute to the rural workforce long term. OBJECTIVE: To determine the number of years that rural-origin Umthombo Youth Development Foundation (UYDF)-supported graduates of different disciplines worked at rural public healthcare facilities (PHCFs)...
March 18, 2024: South African Medical Journal
https://read.qxmd.com/read/38525359/age-associated-sleep-spindle-characteristics-in-duchenne-muscular-dystrophy
#12
JOURNAL ARTICLE
Katharine C Simon, Chelsea Cadle, Neal Nakra, Marni C Nagel, Paola Malerba
Brain oscillations of non-rapid eye movement sleep, including slow oscillations (SO, 0.5-1.5 Hz) and spindles (10-16 Hz), mirror underlying brain maturation across development and are associated with cognition. Hence, age-associated emergence and changes in the electrophysiological properties of these rhythms can lend insight into cortical development, specifically in comparisons between pediatric populations and typically developing peers. We previously evaluated age-associated changes in SOs in male patients with Duchenne muscular dystrophy (DMD), finding a significant age-related decline between 4 and 18 years...
2024: Sleep advances: a journal of the Sleep Research Society
https://read.qxmd.com/read/38524609/effect-of-red-osier-dogwood-extract-on-in-vitro-gas-production-dry-matter-digestibility-and-fermentation-characteristics-of-forage-based-diet-or-grain-based-diet
#13
JOURNAL ARTICLE
W M S Gomaa, A M Saleem, E J McGeough, K Ominski, L Y Chen, W Z Yang
This in vitro batch culture study investigated the effects of red osier dogwood (ROD) extract supplementation on gas production (GP), dry matter disappearance (DMD), and fermentation characteristics in high forage (HF) and high grain (HG) diets with varying media pH level. The experiment was a factorial arrangement of treatments in a completely randomized design with 2 media pH (5.8 and 6.5) × 4 dose rates of ROD extract (0, 1, 3, and 5% of DM substrate). An additional treatment of monensin was added as a positive control for each pH level...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38520157/maltreatment-resilience-and-sexual-relationship-power-in-a-sample-of-justice-involved-women-with-opioid-use-disorder
#14
JOURNAL ARTICLE
Jaxin Annett, Martha Tillson, Megan Dickson, Mary Levi, J Matthew Webster, Michele Staton
Justice-involved women frequently report maltreatment and intimate relationships characterized by violence and abuse throughout adulthood. The present study aimed to (a) investigate the association between victimization and sexual relationship power (SRP) among justice-involved women with opioid use disorder (OUD) and (b) explore resilience as a potential moderating factor of the association between victimization and SRP. Under the ongoing Kentucky Justice Community Opioid Innovation Network (JCOIN) cooperative, justice-involved women (N = 700) were randomly selected from eight jails in Kentucky, screened for OUD, consented to participate, and interviewed by research staff...
March 23, 2024: Journal of Traumatic Stress
https://read.qxmd.com/read/38518239/medical-management-determinants-of-the-maxillofacial-precancerous-and-benign-diseases-malignancy
#15
JOURNAL ARTICLE
Oryna Z Detsyk, Nataliia Z Fedoryka, Zoya O Tsichon, Rostyslav Y Kovalchuk, Ihor M Karpinets
OBJECTIVE: Aim: To identify the medical management determinants of the maxillofacial precancerous and benign diseases malignancy. PATIENTS AND METHODS: Materials and Methods: 150 people with maxillofacial cancer and 100 people with precancerous and benign diseases of the same localization were interviewed. RESULTS: Results: There were revealed: a low percentage of detection during check-up (10.2-15.8%), more than a third of cases (35.8-37...
2024: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://read.qxmd.com/read/38517756/ion-channels-as-biomarkers-of-altered-myogenesis-in-myofiber-precursors-of-duchenne-muscular-dystrophy
#16
JOURNAL ARTICLE
Alessandro Giovanni Cerchiara, Paola Imbrici, Raffaella Quarta, Enrica Cristiano, Brigida Boccanegra, Erika Caputo, Dominic J Wells, Ornella Cappellari, Annamaria De Luca
Myogenesis is essential for skeletal muscle formation, growth, and regeneration and can be altered in Duchenne muscular dystrophy (DMD), an X-linked disorder due to the absence of the cytoskeletal protein dystrophin. Ion channels play a pivotal role in muscle differentiation and interact with the dystrophin complex. To investigate ion channel involvement in myogenesis in dystrophic settings, we performed electrophysiological characterization of two immortalized mouse cell lines, wild-type (WT) H2K-2B4 and the dystrophic (DYS) H2K-SF1, and measured gene expression of differentiation markers and ion channels...
March 22, 2024: Annals of the New York Academy of Sciences
https://read.qxmd.com/read/38517116/quantitative-ultrasonography-reveals-skeletal-muscle-abnormalities-in-carriers-of-dmd-pathogenic-variants
#17
JOURNAL ARTICLE
Bruna Melo Coelho Loureiro, Mariana Rabelo de Brito, Cristina Iwabe, Sergio San Juan Dertkigil, Marcondes C França
INTRODUCTION/AIMS: Carriers of DMD pathogenic variants may become symptomatic and develop muscle-related manifestations. Despite that, few studies have attempted to characterize changes in the muscles of these carriers using imaging tools, particularly muscle ultrasound (MUS). The aim of this study was to compare lower limb MUS findings in carriers of DMD pathogenic variants (cDMD) vs healthy controls. METHODS: Twenty-eight women (15 cDMD and 13 controls) underwent clinical evaluation and MUS...
March 22, 2024: Muscle & Nerve
https://read.qxmd.com/read/38514795/mcu-independent-ca-2-uptake-mediates-mitochondrial-ca-2-overload-and-necrotic-cell-death-in-a-mouse-model-of-duchenne-muscular-dystrophy
#18
JOURNAL ARTICLE
Michael J Bround, Eaman Abay, Jiuzhou Huo, Julian R Havens, Allen J York, Donald M Bers, Jeffery D Molkentin
Mitochondrial Ca2+ overload can mediate mitochondria-dependent cell death, a major contributor to several human diseases. Indeed, Duchenne muscular dystrophy (MD) is driven by dysfunctional Ca2+ influx across the sarcolemma that causes mitochondrial Ca2+ overload, organelle rupture, and muscle necrosis. The mitochondrial Ca2+ uniporter (MCU) complex is the primary characterized mechanism for acute mitochondrial Ca2+ uptake. One strategy for preventing mitochondrial Ca2+ overload is deletion of the Mcu gene, the pore forming subunit of the MCU-complex...
March 21, 2024: Scientific Reports
https://read.qxmd.com/read/38512499/the-exon-junction-complex-is-required-for-dmd-gene-splicing-fidelity-and-myogenic-differentiation
#19
JOURNAL ARTICLE
Dylan Da Cunha, Julie Miro, Charles Van Goethem, Cécile Notarnicola, Gérald Hugon, Gilles Carnac, Mireille Cossée, Michel Koenig, Sylvie Tuffery-Giraud
Deposition of the exon junction complex (EJC) upstream of exon-exon junctions helps maintain transcriptome integrity by preventing spurious re-splicing events in already spliced mRNAs. Here we investigate the importance of EJC for the correct splicing of the 2.2-megabase-long human DMD pre-mRNA, which encodes dystrophin, an essential protein involved in cytoskeletal organization and cell signaling. Using targeted RNA-seq, we show that knock-down of the eIF4A3 and Y14 core components of EJC in a human muscle cell line causes an accumulation of mis-splicing events clustered towards the 3' end of the DMD transcript (Dp427m)...
March 21, 2024: Cellular and Molecular Life Sciences: CMLS
https://read.qxmd.com/read/38511270/longitudinal-data-of-serum-creatine-kinase-levels-and-motor-pulmonary-and-cardiac-functions-in-337-patients-with-duchenne-muscular-dystrophy
#20
JOURNAL ARTICLE
Hiroyuki Awano, Yoshinori Nambu, Chieko Itoh, Akihiro Kida, Tetsushi Yamamoto, Tomoko Lee, Yasuhiro Takeshima, Kandai Nozu, Masafumi Matsuo
INTRODUCTION/AIMS: Duchenne muscular dystrophy (DMD) presents with skeletal muscle weakness, followed by cardiorespiratory involvement. The need for longitudinal data regarding DMD that could serve as a control for determining treatment efficacy in clinical trials has increased notably. The present study examined the longitudinal data of Japanese DMD patients collectively and assessed individual patients with pathogenic variants eligible for exon-skipping therapy. METHODS: Patients with DMD who visited Kobe University Hospital between March 1991 and March 2019 were enrolled...
March 21, 2024: Muscle & Nerve
keyword
keyword
3753
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

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"

We want to hear from doctors like you!

Take a second to answer a survey question.