Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy?

McKane, Meghann; Soslow, Jonathan H.; Xu, Meng; Saville, Benjamin R.; Slaughter, James C.; Burnette, W. Bryan; Markham, Larry W.

doi:10.1177/0883073816687422

Cited by 9 publications

(16 citation statements)

References 23 publications

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“…The latter study reported age at LOA by genotype, from 12 years (patients with exon 51 and 53 skip amenable mutations) to 20 years (patients with exon 44 skip amenable mutations). Six studies reported estimates from mixed corticosteroid use samples, and the range was tighter; from 10.0 (range: 4.0–14.0) years (in 67.4% of 85 patients from a single-center chart review) [ 34 ] to 12.4 years (in 64.9% of 225 patients from CINRG) [ 29 ].…”

Section: Resultsmentioning

confidence: 99%

“…The percentage who experienced LOA increased with time (Fig. 2 c) [ 20 , 22 – 25 , 28 – 31 , 33 , 34 , 36 , 37 ], from 12.3% at 10 years (from 223 corticosteroid-treated CINRG patients) [ 30 ] to 89.9% at 15 years (from 53 corticosteroid-treated MD STARnet patients) [ 31 ]. Estimates from longitudinal studies report that up to 30% of DMD patients lose ambulation by 10 years (CINRG) [ 28 ], and 90% by 15 years (MD STARnet) [ 31 ].…”

Section: Resultsmentioning

confidence: 99%

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The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

Szabo¹,

Salhany

Deighton³

et al. 2021

Orphanet J Rare Dis

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Background Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The standard of care for patients with DMD has been treatment with corticosteroids for the past decade; however a synthesis of contemporary data describing the clinical course of DMD is lacking. The objective was to summarize age at key clinical milestones (loss of ambulation, scoliosis, ventilation, cardiomyopathy, and mortality) in the corticosteroid-treatment-era. Methods A systematic review was conducted using MEDLINE and EMBASE. The percentage experiencing key clinical milestones, and the mean or median age at those milestones, was synthesized from studies from North American populations, published between 2007 and 2018. Results From 5637 abstracts, 29 studies were included. Estimates of the percentage experiencing key clinical milestones, and age at those milestones, showed heterogeneity. Up to 30% of patients lost ambulation by age 10 years, and up to 90% by 15 years of age. The mean age at scoliosis onset was approximately 14 years. Ventilatory support began from 15 to 18 years, and up to half of patients required ventilation by 20 years of age. Registry-based estimates suggest that 70% had evidence of cardiomyopathy by 15 years and almost all by 20 years of age. Finally, mortality rates up to 16% by age 20 years were reported; among those surviving to adulthood mortality was up to 60% by age 30 years. Conclusions Contemporary natural history studies from North America report that LOA on average occurs in the early teens, need for ventilation and cardiomyopathy in the late teens, and death in the third or fourth decade of life. Variability in rates may be due to differences in study design, treatment with corticosteroids or other disease-modifying agents, variations in clinical practices, and dystrophin mutations. Despite challenges in synthesizing estimates, these findings help characterize disease progression among contemporary North American DMD patients.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

Szabo¹,

Salhany

Deighton³

et al. 2021

Orphanet J Rare Dis

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“…Cardiac arrest can occur seven days after CAR-T cell infusion in patients with acute lymphoblastic leukemia (ALL). There have also been reports of a left ventricular ejection fraction that was 25% of the normal baseline [8,87,[96][97][98].…”

Section: Cardiotoxictymentioning

confidence: 99%

The Role of Immunological Synapse in Predicting the Efficacy of Chimeric Antigen Receptor (CAR) Immunotherapy

et al. 2020

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Chimeric Antigen Receptor (CAR) immunotherapy utilizes genetically-engineered immune cells that express a unique cell surface receptor that combines tumor antigen specificity with immune cell activation. In recent clinical trials, the adoptive transfer of CAR-modified immune cells (including CART and CAR-NK cells) into patients has been remarkably successful in treating multiple refractory blood cancers. To improve safety and efficacy, and expand potential applicability to other cancer types, CARs with different target specificities and sequence modifications are being developed and tested by many laboratories. Despite the overall progress in CAR immunotherapy, conventional tools to design and evaluate the efficacy and safety of CAR immunotherapies can be inaccurate, time-consuming, costly, and labor-intensive. Furthermore, existing tools cannot always determine how responsive individual patients will be to a particular CAR immunotherapy. Recent work in our laboratory suggests that the quality of the immunological synapse (IS) can accurately predict CAR-modified cell efficacy (and toxicity) that can correlate with clinical outcomes. Here we review current efforts to develop a Synapse Predicts Efficacy (SPE) system for easy, rapid and cost-effective evaluation of CAR-modified immune cell immunotherapy. Ultimately, we hypothesize the conceptual basis and clinical application of SPE will serve as an important parameter in evaluating CAR immunotherapy and significantly advance precision cancer immunotherapy.

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“…(BULFIELD et al, 1984;WILLMANN et al, 2012). Entretanto, seu fenótipo é considerado suave, pois sua performance funcional e expectativa de vida é próxima do normal (SICINSKI et al, 1989;DECONINCK et al, 1997;VAN PUTTEN, 2011 A fraqueza muscular inicial leva a criança a ter imperfeições na marcha, no correr, brincar, sentar e levantar e progressivamente por volta dos 12 anos de idade leva ao uso da cadeira de rodas e as disfunções dos músculos axiais resultam em alterações das curvaturas fisiológicas da coluna vertebral, como exemplo o desenvolvimento da escoliose (ARAÚJO et al, 2004;MCKANE et al, 2017).…”

Section: Materials E Métodounclassified

“…A fibrose e necrose do miocárdio resulta-se em cardiomiopatias, a expectativa de vida é severamente reduzida, e a morte súbita ainda pode ocorrer antes dos 20 anos de idade. Em torno da 2ª a 3ª década de vida, estes pacientes necessitam de recursos ventilatórios não invasivos, sendo o comprometimento cardíaco e ou respiratório responsáveis por 80% da causa mortis, devido à insuficiência respiratória sobreposta a um quadro infeccioso e/ou insuficiência cardíaca (CAROMANO, 1999;KORNEGAY et al, 1999;FLANIGAN, 2014;MCKANE et al, 2017). 1998;WILLMANN et al, 2012).…”

Section: Materials E Métodounclassified

<b>O efeito do suplemento do ácido ursólico em camundongos mdx</b>

Silveira¹

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A minha querida orientadora, Prof. Maria Angélica por ter me dado esta valiosa oportunidade. Pelos ensinamentos, disponibilidade e pela confiança. Por escutar as minhas ideias e direcioná-las da melhor maneira possível. Serei grata para sempre, por todos os momentos, que foram de extrema riqueza para o meu amadurecimento tanto pessoal quanto profissional. A toda minha família em especial a Tia Dora que sempre me incentivou e acreditou em mim. Fernanda pelo apoio, pelo teto, pelas palavras, desabafos, incentivos, pela nossa convivência nesses anos... A Ana Carolina que me inseriu na estatística, e que deixou os meus dias mais alegres no laboratório. Que família abençoada que eu possuo... Aos colegas, professores, funcionários da FMVZ-USP, pelo carinho, respeito e pela troca de conhecimento. Aos queridos amigos Rodrigo Barreto e Thaís Borges Lessa, não existem palavras que mensurem a gratidão que eu tenho por ter conhecido vocês. Imensamente grata pelo tempo, paciência, amizade e muito aprendizado.... Vocês foram e são muito importantes na minha vida. Ao professor Dr. David Feder, por conceder a oportunidade de trabalhar em outra universidade, pela doação dos animais usados nesta pesquisa, pela instrução, paciência, pelas ideias e questionamentos. Espero poder ter novas oportunidades e parceria com o senhor. A todos da faculdade de Medicina do ABC, Dra. Giuliana, José, todos do laboratório da Dra Alzira, funcionários, por me receberem de braços abertos. Dr. Fernando, que disponibilizou o seu laboratório de análises, Bia, Teka, Gláucia e ao querido Matheus, onde com toda paciência, me ensinou sobre a técnica de PCR, e me auxiliou em tudo, meus sinceros agradecimentos, do fundo do coração. A Capes, Proex, pelo apoio financeiro para o desenvolvimento desta pesquisa. Palavras-chaves: casca da maçã, distrofia muscular, inflamação, suplementação natural.

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Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy?

Cited by 9 publications

References 23 publications

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

The Role of Immunological Synapse in Predicting the Efficacy of Chimeric Antigen Receptor (CAR) Immunotherapy

<b>O efeito do suplemento do ácido ursólico em camundongos mdx</b>

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