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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 -
Hellenic Journal of Cardiology : HJC =... 2023Duchenne muscular dystrophy is a fatal X-linked recessive disease affecting approximately 1 in 3500 births. It is characterized by a genetic lack of dystrophin, which is... (Review)
Review
Duchenne muscular dystrophy is a fatal X-linked recessive disease affecting approximately 1 in 3500 births. It is characterized by a genetic lack of dystrophin, which is an essential protein for maintaining muscle integrity. The lack of dystrophin plays a pathophysiological role in the development of dilated cardiomyopathy in Duchenne muscular dystrophy. Currently, no consensus exists on specific pharmacological therapy guidelines for these patients; however, it centers around the guidelines for heart failure management. This systematic review investigated 12 randomized control trials dating back to 2005 in the pharmacotherapy of patients with dilated cardiomyopathy Duchenne muscular dystrophy. This review specifically included angiotensin-converting enzyme inhibitors, aldosterone receptor blockers, angiotensin receptor/neprilysin inhibitors, beta-blockers, and mineralocorticoid receptor antagonists. Despite their limitations, these studies have shown promising effects in improving the overall heart function and prognosis in patients with this condition. However, to attain higher statistical significance, future studies should investigate larger populations and for longer periods.
Topics: Humans; Cardiomyopathy, Dilated; Muscular Dystrophy, Duchenne; Dystrophin; Angiotensin-Converting Enzyme Inhibitors; Adrenergic beta-Antagonists
PubMed: 37406964
DOI: 10.1016/j.hjc.2023.06.007 -
Cureus Jun 2023Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle... (Review)
Review
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there is no established consensus on this disease treatment in terms of medications. We assessed the response to the treatment of the drugs utilized in clinical trials by performing a systematic literature review in English using the preferred reporting items for systematic reviews (PRISMA) and meta-analyses. We only used human clinical trials in patients diagnosed with FSHD that received consistent pharmacological treatment. We included 11 clinical trials that fulfilled our criteria. We concluded that albuterol had statistically significant results in three out of four clinical trials, with improved elbow flexors muscle strength. Vitamin C, vitamin E, zinc gluconate, and selenomethionine showed significant improvement in the maximal voluntary contraction and endurance limit time of quadriceps muscle. At the same time, diltiazem and MYO-029 demonstrate no improvement in function, strength, or muscle mass. Losmapimod, currently in phase I of the ReDUX4 trial, showed promising results. Peradventure, more clinical trials are still needed to address this subject. Nevertheless, this review provides a clear and concise update on the treatment for this disease.
PubMed: 37404420
DOI: 10.7759/cureus.39903 -
PloS One 2023This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and...
OBJECTIVE
This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and caregivers, treatment adherence, and economic impact of DMD.
METHODS
Systematic searches were conducted in PubMed, Embase and Web of Science up to January 2023. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol was registered in PROSPERO (CRD42021245196).
RESULTS
Thirteen studies were included. The prevalence of DMD in the general population is 1.7-3.4 cases per 100,000, while the birth prevalence is 21.7-28.2 per 100,000 live male births. The QoL of DMD patients and caregivers is lower than that of healthy subjects, and the burden for caregivers of DMD children is higher than that of caregivers of children with other neuromuscular disorders. The compliance of real-world DMD care to clinical guidelines recommendations in Italy is lower than in other European countries. The annual cost of illness for DMD in Italy is € 35,000-46,000 per capita while, adding intangible costs, the total cost amounts to € 70,000.
CONCLUSION
Although it is a rare disease, DMD represents a significant burden in terms of quality of life of patients and their caregivers, and economic impact.
Topics: Child; Humans; Male; Quality of Life; Muscular Dystrophy, Duchenne; Italy; Europe; Treatment Adherence and Compliance
PubMed: 37368924
DOI: 10.1371/journal.pone.0287774 -
Neuropathology and Applied Neurobiology Jun 2023Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is... (Meta-Analysis)
Meta-Analysis Review
AIMS
Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is suggested that IQ is negatively correlated with the number of affected isoforms (i.e., Dp427, Dp140 and Dp71). Therefore, the objective of this meta-analysis was to estimate the IQ, and the IQ-genotype association according to the altered dystrophin isoforms, in the population with BMD or DMD.
METHODS
A systematic search in Medline, Web of Science, Scopus and the Cochrane Library was conducted from inception to March 2023. Observational studies that determined the IQ and/or the IQ by genotype in the population with BMD or DMD were included. Meta-analyses of IQ, IQ by genotype and IQ-genotype association by comparing IQ according to the genotype were conducted. The results are shown as the mean/mean differences and 95% confidence intervals.
RESULTS
Fifty-one studies were included. The IQ in BMD was 89.92 (85.84, 94.01) and in DMD was 84.61 (82.97, 86.26). Moreover, the IQ for Dp427-/Dp140+/Dp71+ and Dp427-/Dp140-/Dp71+ was 90.62 (86.72, 94.53) and 80.73 (67.49, 93.98) in BMD, while the IQ for Dp427-/Dp140+/Dp71+, Dp427-/Dp140-/Dp71+ and Dp427-/Dp140-/Dp71- was 93.05 (89.42, 96.67), 81.78 (77.23, 86.32) and 49.19 (40.47, 57.90) in DMD. Finally, in DMD, Dp427-/Dp140-/Dp71+ vs Dp427-/Dp140+/Dp71+ and Dp427-/Dp140-/Dp71- vs Dp427-/Dp140-/Dp71+ were associated with -10.73 (-14.66, -6.81) and -36.14 (-48.87, -23.41) points, respectively.
CONCLUSIONS
The IQ in BMD and DMD was lower than the normative values. Moreover, in DMD, there is a synergistic association between the number of affected isoforms and IQ.
Topics: Humans; Dystrophin; Muscular Dystrophy, Duchenne; Protein Isoforms; Intelligence
PubMed: 37312416
DOI: 10.1111/nan.12914 -
Journal of Clinical Neuromuscular... Jun 2023The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated...
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.
Topics: Humans; Mutation; Phenotype; Genetic Testing; Muscle, Skeletal; Muscular Dystrophy, Duchenne
PubMed: 37219861
DOI: 10.1097/CND.0000000000000436 -
Journal of Neuromuscular Diseases 2023Muscular dystrophies (MDs) are characterized by chronic muscle wasting but also poorly understood metabolic co-morbidities. We have recently shown that Duchenne MD (DMD)... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Muscular dystrophies (MDs) are characterized by chronic muscle wasting but also poorly understood metabolic co-morbidities. We have recently shown that Duchenne MD (DMD) patients, dogs and asymptomatic carriers are affected by a new form of dyslipidemia that may exacerbate muscle damage.
OBJECTIVE
We aimed to perform a systematic review and meta-analysis for evidence that other types of MDs are associated with dyslipidemia compared to healthy controls.
METHODS
Search was conducted using MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials for reports that compare plasma/serum lipids from MD patients and controls, and meta-analysis of cross-sectional studies quantifying total cholesterol, high-density lipoprotein, low density lipoprotein and triglycerides was performed.
RESULTS
Out of 749 studies, 17 met our inclusion criteria for meta-analysis. 14 of the 17 studies (82%) included investigated myotonic dystrophy (DM); other studies were on pseudohypertrophic MD (PMD) or DMD. As a whole, MD individuals had significantly higher levels of circulating total cholesterol (Hedges' g with 95% confidence interval [CI], 0.80 [0.03 - 1.56]; p = 0.04) and triglycerides (Hedges' g with 95% confidence interval [CI], 2.28[0.63 - 3.92]; p = 0.01) compared to controls. Meta-regression analysis showed the percentage of male gender was significantly associated with the difference in total cholesterol (beta = 0.05; 95% CI, - 0.02 to 0.11; p = 0.043) and high-density lipoprotein (beta = - 9.38; 95% CI, - 16.26 to - 2.50; p = 0.028).
CONCLUSIONS
MD is associated with significantly higher circulating levels of total cholesterol and triglycerides. However, caution on the interpretation of these findings is warranted and future longitudinal research is required to better understand this relationship.
Topics: Male; Cholesterol; Cross-Sectional Studies; Dyslipidemias; Lipoproteins, HDL; Muscular Dystrophies; Triglycerides; Female; Humans
PubMed: 37182897
DOI: 10.3233/JND-230064 -
Frontiers in Bioengineering and... 2023The central nervous system simplifies motor control by sending motor commands activating groups of muscles, known as synergies. Physiological locomotion can be described... (Review)
Review
The central nervous system simplifies motor control by sending motor commands activating groups of muscles, known as synergies. Physiological locomotion can be described as a coordinated recruitment of four to five muscle synergies. The first studies on muscle synergies in patients affected by neurological diseases were on stroke survivors. They showed that synergies can be used as biomarkers for motor impairment as they vary in patients with respect to healthy people. Likewise, muscle synergy analysis has been applied to developmental diseases (DD). The need for a comprehensive view of the present findings is crucial for comparing results achieved so far and promote future directions in the field. In the present review, we screened three scientific databases and selected thirty-six papers investigating muscle synergies extracted from locomotion in children affected by DD. Thirty-one articles investigate how cerebral palsy (CP) influences motor control, the currently exploited method in studying motor control in CP and finally the effects of treatments in these patients in terms of synergies and biomechanics; two articles investigate how muscle synergies vary in Duchenne muscular dystrophy (DMD), and three other articles assess other developmental pathologies, such as chronic and acute neuropathic pain. For CP, most of the studies demonstrate that the number of synergies is lower and that the synergy composition varies in the affected children with respect to normal controls. Still, the predictability of treatment's effects and the etiology of muscle synergy variation are open questions, as it has been reported that treatments minimally modify synergies, even if they improve biomechanics. The application of different algorithms in extracting synergies might bring about more subtle differences. Considering DMD, no correlation was found between non-neural muscle weakness and muscle modules' variation, while in chronic pain a decreased number of synergies was observed as a possible consequence of plastic adaptations. Even if the potential of the synergistic approach for clinical and rehabilitation practices is recognized, there is not full consensus on protocols nor widely accepted guidelines for the systematic clinical adoption of the method in DD. We critically commented on the current findings, on the methodological issues and the relative open points, and on the clinical impact of muscle synergies in neurodevelopmental diseases to fill the gap for applying the method in clinical practice.
PubMed: 37180039
DOI: 10.3389/fbioe.2023.1145937 -
Annals of Pediatric Cardiology 2022The concept of cardiorenal syndrome (CRS) is derived from the crosstalk between the heart and kidneys in pathological conditions. Despite the rising importance of CRS,... (Review)
Review
The concept of cardiorenal syndrome (CRS) is derived from the crosstalk between the heart and kidneys in pathological conditions. Despite the rising importance of CRS, there is a paucity of information on the understanding of its pathophysiology and management, increasing both morbidity and mortality for patients. This review summarizes the existing conceptual pathophysiology of different types of CRS and delves into the associated therapeutic modalities with a focus on pediatric cases. Prospective or retrospective observational studies, comparative studies, case reports, case-control, and cross-sectional studies that include pediatric patients with CRS were included in this review. Literature was searched using PubMed, EMBASE, and Google Scholar with keywords including "cardio-renal syndrome, type," "reno-cardio syndrome," "children," "acute kidney injury," and "acute decompensated heart failure" from January 2000 to January 2021. A total of 14 pediatric studies were ultimately included and analyzed, comprising a combined population of 3608 children of which 32% had CRS. Of the 14 studies, 57% were based on type 1 CRS, 14% on types 2 and 3 CRS, and 7% were on types 4 and 5 CRS. The majority of included studies were prospective cohort, although a wide spectrum was observed in terms of patient age, comorbidities, etiologies, and treatment strategies. Commonly observed comorbidities in CRS type 1 were hematologic, oncologic, cardiology-related side effects, muscular dystrophy, and pneumonia/bronchiolitis. CRS, particularly type 1, is prevalent in children and has a significant risk of mortality. The current treatment regimen primarily involves diuretics, extracorporeal fluid removal, and treatment of underlying etiologies and comorbidities.
PubMed: 37152514
DOI: 10.4103/apc.apc_50_22 -
Journal of Neurology Aug 2023Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders comprising more than 20 genes. There have been increasing efforts to characterize...
Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders comprising more than 20 genes. There have been increasing efforts to characterize this group with Muscle MRI. However, due to the complexity and similarities, the interpretation of the MRI patterns is usually done by experts in the field. Here, we proposed a step-by-step image interpretation of Muscle MRI in LGDM by evaluating the variability of muscle pattern involvement reported in the literature. A systematic review with an open start date to November 2022 was conducted to describe all LGMDs' muscle MRI patterns. Eighty-eight studies were included in the final review. Data were found to describe muscle MRI patterns for 15 out of 17 LGMDs types. Although the diagnosis of LGMDs is challenging despite the advanced genetic testing and other diagnostic modalities, muscle MRI is shown to help in the diagnosis of LGMDs. To further increase the yield for muscle MRI in the neuromuscular field, larger cohorts of patients need to be conducted.
Topics: Humans; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Neuromuscular Diseases; Magnetic Resonance Imaging; Genetic Testing
PubMed: 37129643
DOI: 10.1007/s00415-023-11722-1