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International Journal of Palliative... Dec 2016A systematic review was conducted to appraise and classify evidence related to the life transitions of adolescents and young adults with life-limiting conditions. (Review)
Review
AIMS
A systematic review was conducted to appraise and classify evidence related to the life transitions of adolescents and young adults with life-limiting conditions.
METHODS
The databases searched were MEDLINE, CINAHL, PsycINFO, CancerLit, and AMED. Methodological quality was assessed using an established tool and the final articles included in the study were rated as moderate to high quality. Articles were then assessed based on the insight that they provided into life transitions for adolescents and young adults.
RESULTS
Eighteen studies were included in the final review, with two major life transitions identified as pertinent: 'illness transition' and 'developmental transition'. These concurrent transitions were found to be relevant to adolescents and young adults with life-limiting conditions, generating complex needs. Sub-themes within the transitions were also identified. Furthermore, the illness transition was found to also impact significant others, namely family members, having physical, mental and emotional health implications and requiring them to make adaptations.
CONCLUSIONS
Future research is needed to focus on adolescent and young adult perspectives to bring further insight into these key transitions, since such perspectives are currently underrepresented. Attention to the impact of the illness on the whole family would be useful to expand findings from this review.
Topics: Adaptation, Psychological; Adolescent; Adolescent Development; Adult; Brain Neoplasms; Child; Cystic Fibrosis; Disease Progression; Emotions; Family; Health Status; Humans; Mental Health; Muscular Dystrophy, Duchenne; Neurodegenerative Diseases; Terminally Ill; Young Adult
PubMed: 27992275
DOI: 10.12968/ijpn.2016.22.12.608 -
Journal of Neurology Jul 2017A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed... (Review)
Review
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review. Data on preferentially involved or spared muscles were extracted for analysis. A total of 2172 titles and abstracts were screened, and 70 publications met our criteria for inclusion in the systematic review. There were 23 distinct genetic disorders represented in this analysis. In most studies, preferential involvement and sparing of specific muscles were reported. We conclude that magnetic resonance imaging studies can be used to identify distinct patterns of muscle involvement in the hereditary myopathies. However, larger studies and standardized methods of reporting are needed to develop imaging as a diagnostic tool in these diseases.
Topics: Humans; Magnetic Resonance Imaging; Muscles; Muscular Diseases
PubMed: 27888415
DOI: 10.1007/s00415-016-8350-6 -
Muscle & Nerve Jul 2021There is a great demand for accurate non-invasive measures to better define the natural history of disease progression or treatment outcome in Duchenne muscular...
There is a great demand for accurate non-invasive measures to better define the natural history of disease progression or treatment outcome in Duchenne muscular dystrophy (DMD) and to facilitate the inclusion of a large range of participants in DMD clinical trials. This review aims to investigate which MRI sequences and analysis methods have been used and to identify future needs. Medline, Embase, Scopus, Web of Science, Inspec, and Compendex databases were searched up to 2 November 2019, using keywords "magnetic resonance imaging" and "Duchenne muscular dystrophy." The review showed the trend of using T1w and T2w MRI images for semi-qualitative inspection of structural alterations of DMD muscle using a diversity of grading scales, with increasing use of T2map, Dixon, and MR spectroscopy (MRS). High-field (>3T) MRI dominated the studies with animal models. The quantitative MRI techniques have allowed a more precise estimation of local or generalized disease severity. Longitudinal studies assessing the effect of an intervention have also become more prominent, in both clinical and animal model subjects. Quality assessment of the included longitudinal studies was performed using the Newcastle-Ottawa Quality Assessment Scale adapted to comprise bias in selection, comparability, exposure, and outcome. Additional large clinical trials are needed to consolidate research using MRI as a biomarker in DMD and to validate findings against established gold standards. This future work should use a multiparametric and quantitative MRI acquisition protocol, assess the repeatability of measurements, and correlate findings to histologic parameters.
Topics: Animals; Evaluation Studies as Topic; Humans; Magnetic Resonance Imaging; Muscle, Skeletal; Muscular Dystrophy, Duchenne
PubMed: 33269474
DOI: 10.1002/mus.27133 -
Neuropathology : Official Journal of... Feb 2021Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative...
Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative of widespread grey and white matter involvement. The aim of the present study was to systematically review the literature on brain pathology in DM1. We conducted a structured search in EMBASE (index period 1974-2017) and MEDLINE (index period 1887-2017) on December 11, 2017, using free text and index search terms related to myotonic dystrophy type 1 and brain structures or regions. Eligible studies were full-text studies reporting on microscopic brain pathology of DM1 patients without potentially interfering comorbidity. We discussed the findings based on the anatomical region and the nature of the anomaly. Neuropathological findings in DM1 can be classified as follows: (1) protein and nucleotide deposits; (2) changes in neurons and glial cells; and (3) white matter alterations. Most findings are unspecific to DM1 and may occur with physiological aging, albeit to a lesser degree. There are similarities and contrasts with Alzheimer's disease; both show the appearance of neurofibrillary tangles in the limbic system without plaque occurrence. Likewise, there is myelin loss and gliosis, and there are dilated perivascular spaces in the white matter resemblant of cerebral small vessel disease. However, we did not find evidence of lacunar infarction or microbleeding. The various neuropathological findings in DM1 are reflective of the heterogeneous clinical and neuroimaging features of the disease. The strength of conclusions from this study's findings is bounded by limited numbers of participants in studies, methodological constraints, and lack of assessed associations between histopathology and clinical or neuroimaging findings.
Topics: Brain; Gray Matter; Humans; Inclusion Bodies; Myotonic Dystrophy; Neurofibrillary Tangles; Neuroimaging; White Matter
PubMed: 33599033
DOI: 10.1111/neup.12721 -
Neurology Dec 2021Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND OBJECTIVES
Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of its rarity, research literature and patient numbers are limited. To fully characterize the natural history, it is crucial to obtain appropriate estimates of the life expectancy and mortality rates of patients with DMD.
METHODS
A systematic review of the published literature on mortality in DMD up to July 2020 was undertaken, specifically focusing on publications in which Kaplan-Meier (KM) survival curves with age as a timescale were presented. These were digitized, and individual patient data (IPD) were reconstructed. The pooled IPD were analyzed with the KM estimator and parametric survival analysis models. Estimates were also stratified by birth cohort.
RESULTS
Of 1,177 articles identified, 14 publications met the inclusion criteria and provided data on 2,283 patients, of whom 1,049 had died. Median life expectancy was 22.0 years (95% confidence interval [CI] 21.2, 22.4). Analyses stratified by 3 time periods in which patients were born showed markedly increased life expectancy in more recent patient populations; patients born after 1990 have a median life expectancy of 28.1 years (95% CI 25.1, 30.3).
DISCUSSION
This article presents a full overview of mortality across the lifetime of a patient with DMD and highlights recent improvements in survival. In the absence of large-scale prospective cohort studies or trials reporting mortality data for patients with DMD, extraction of IPD from the literature provides a viable alternative to estimating life expectancy for this patient population.
Topics: Child, Preschool; Humans; Kaplan-Meier Estimate; Life Expectancy; Muscular Dystrophy, Duchenne; Prospective Studies
PubMed: 34645707
DOI: 10.1212/WNL.0000000000012910 -
Public Health Apr 2021A systematic narrative literature review was undertaken to assess the acceptability of childhood screening interventions to identify factors to consider when planning or...
OBJECTIVES
A systematic narrative literature review was undertaken to assess the acceptability of childhood screening interventions to identify factors to consider when planning or modifying childhood screening programs to maximize participation and uptake.
STUDY DESIGN
This is a systematic narrative literature review.
METHODS
Electronic databases were searched (MEDLINE, EMBASE, PsycINFO via Ovid, CINAHL, and Cochrane Library) to identify primary research studies that assessed screening acceptability. Studies were categorized using an existing theoretical framework of acceptability consisting of seven constructs: affective attitude, burden, ethicality, intervention coherence, opportunity costs, perceived effectiveness, and self-efficacy. A protocol was developed and registered with PROSPERO (registration no. CRD42018099763) RESULTS: The search identified 4529 studies, and 46 studies met the inclusion criteria. Most studies involved neonatal screening. Programs identified included newborn blood spot screening (n = 22), neonatal hearing screening (n = 13), Duchenne muscular dystrophy screening (n = 4), cystic fibrosis screening (n = 3), screening for congenital heart defects (n = 2), and others (n = 2). Most studies assessed more than one construct of acceptability. The most common constructs identified were affective attitude (how a parent feels about the program) and intervention coherence (parental understanding of the program, and/or the potential consequences of a confirmed diagnosis).
CONCLUSIONS
The main acceptability component identified related to parental knowledge and understanding of the screening process, the testing procedure(s), and consent. The emotional impact of childhood screening mostly explored maternal anxiety. Further studies are needed to examine the acceptability of childhood screening across the wider family unit. When planning new (or refining existing) childhood screening programs, it is important to assess acceptability before implementation. This should include assessment of important issues such as information needs, timing of information, and when and where the screening should occur.
Topics: Child; Humans; Infant; Infant, Newborn; Mass Screening; Neonatal Screening; Parents; Patient Acceptance of Health Care
PubMed: 33831694
DOI: 10.1016/j.puhe.2021.02.005 -
International Journal of Molecular... Aug 2023Muscular dystrophy is a heterogenous group of hereditary muscle disorders caused by mutations in the genes responsible for muscle development, and is generally defined... (Review)
Review
Muscular dystrophy is a heterogenous group of hereditary muscle disorders caused by mutations in the genes responsible for muscle development, and is generally defined by a disastrous progression of muscle wasting and massive loss in muscle regeneration. is closely associated with myogenesis, which is governed by various signaling pathways throughout a lifetime and is frequently used as an indicator in muscle research. In this review, an extensive literature search adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was performed to identify research that examined signaling pathways in living models, while quantifying expression in myogenesis. A total of 247 articles were retrieved from the Web of Science (WoS), PubMed and Scopus databases and were thoroughly examined and evaluated, resulting in 19 articles which met the inclusion criteria. Admittedly, we were only able to discuss the quantification of carried out in research affecting various type of genes and signaling pathways, rather than the expression of itself, due to the massive differences in approach, factor molecules and signaling pathways analyzed across the research. However, we highlighted the thorough evidence for the alteration of the muscle stem cell precursor in multiple signaling pathways described in different living models, with an emphasis on the novel approach that could be taken in manipulating expression itself in dystrophic muscle, towards the discovery of an effective treatment for muscular dystrophy. Therefore, we believe that this could be applied to the potential gap in muscle research that could be filled by tuning the well-established marker expression to improve dystrophic muscle.
Topics: Humans; Muscular Dystrophies; Muscles; Databases, Factual; Muscle Development; Signal Transduction; PAX7 Transcription Factor
PubMed: 37685856
DOI: 10.3390/ijms241713051 -
Translational Pediatrics Nov 2021Hormonal drug therapy has been widely used in clinical practice for the treatment of progressive muscular dystrophy (PMD). Glucocorticoids, as a common drug in the...
BACKGROUND
Hormonal drug therapy has been widely used in clinical practice for the treatment of progressive muscular dystrophy (PMD). Glucocorticoids, as a common drug in the clinical treatment of PMD, have been reported in several clinical studies.
METHODS
Chinese and English databases were respectively searched using "randomized controlled trials", "Duchenne-type myotonic dystrophy", "glucocorticoids", Prednisone", "Prednisolone", and "Methylprednisolone", and "Defibrotide" were used as search terms. The meta-analysis was performed using the RevMan 5.3 and Stata 13 software provided by the Cochrane system.
RESULTS
this study included five randomized controlled trials, all of which described the correct randomization method. There were four detailed descriptions of hidden distribution schemes. There were four literatures using blind method. Heterogeneity analysis showed that there was some heterogeneity between the results of the mean prognostic muscle strength, walking time of 9 meters, and 4 flights of stairs climbing between the glucocorticoid-treated group (the experimental group) and the placebo group (the control group). There were no significant differences between the experimental group and the control group in average muscle strength level, walking time of 9 meters and climbing time of 4 flights of stairs (MD =1.77; 95% CI: -0.95 to 4.48; P=0.20>0.05), (MD =-12.27; 95% CI: -35.94 to 11.40; P=0.31>0.01), (MD =-3.09; 95% CI: -11.16 to 4.99; P=0.45>0.05). In addition, glucocorticoid treatment significantly increased creatine kinase level in patients with PMD (MD =-0.28, 95% CI: -0.57 to 0.00; P=0.05). In terms of the incidence of adverse reactions, glucocorticoid treatment significantly increased the prognostic probability of acne, rapid hair growth, and emotional irritability in PMD patients (OR =2.40; 95% CI: 1.09 to 5.27; P=0.03<0.05), (OR =3.05; 95% CI: 1.55 to 5.99; P=0.001<0.05), (OR =4.04; 95% CI: 1.82 to 10.63; P=0.001<0.05). There was no significant difference in the incidence of prognostic depression between the experimental group and the control group (OR =5.11; 95% CI: 0.80 to 32.79; P=0.09>0.05).
DISCUSSION
The results suggest that glucocorticoids have a significant effect on PMD patients, but to a certain extent they increase the incidence of adverse reactions in patients after treatment. However, due to the lack of complete clinical data in some ongoing studies, our conclusions may not be fully representative.
PubMed: 34976770
DOI: 10.21037/tp-21-461 -
Omega Jul 2023Understanding the perceptions and experiences related to the end of life (EoL) of boys and men with Duchenne muscular dystrophy from their own and/or family perspective...
End of Life in Boys and Young Men With Duchenne Muscular Dystrophy - The Perspective of Dying Men and Their Families: A Systematic Review and Thematic Synthesis of Qualitative Evidence.
Understanding the perceptions and experiences related to the end of life (EoL) of boys and men with Duchenne muscular dystrophy from their own and/or family perspective is limited based on the available qualitative empirical studies. This systematic review was done with a thematic synthesis of qualitative evidence according to the PRISMA Statement Guidelines and the SPIDER search tool. The review included empirical, qualitative, and relevant full-text studies published in 2000-2023 in the EBSCO Discovery Service, ISI Web of Science, Scopus, PubMed, and ProQuest databases. From o total of eight included qualitative studies, four main key themes were identified: "Being a parent/caregiver" - psychosocial aspects, needs, and experiences; "Communication about EoL with healthcare and other professionals" - positive experiences and personal shortcomings; "Discussions about…" - the issue of EoL, dying and death; and "End of life" - end-of-life care, planning and the need for palliative care.
PubMed: 37408104
DOI: 10.1177/00302228231186358 -
Neuromuscular Disorders : NMD Dec 2017Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients... (Review)
Review
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness.
Topics: Adult; Age of Onset; Child; Humans; Infant; Muscular Dystrophy, Facioscapulohumeral
PubMed: 29102079
DOI: 10.1016/j.nmd.2017.09.007