scholarly journals Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 998
Author(s):  
Rosario Licitra ◽  
Maria Marchese ◽  
Letizia Brogi ◽  
Baldassare Fronte ◽  
Letizia Pitto ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Genomic Medicine ◽  
Neuromuscular Diseases ◽  
Dystrophin Gene ◽  
Neuromuscular Disorder ◽  
Heme Oxygenase 1 ◽  
Zebrafish Model ◽  
Screening Study

Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is an inherited neuromuscular disorder that causes loss of muscle mass and motor skills. In the era of genomic medicine, there is still no known cure for DMD. In clinical practice, there is a growing awareness of the possible importance of nutrition in neuromuscular diseases. This is mostly the result of patients’ or caregivers’ empirical reports of how active substances derived from food have led to improved muscle strength and, thus, better quality of life. In this report, we investigate several nutraceutical principles in the sapje strain of zebrafish, a validated model of DMD, in order to identify possible natural products that, if supplemented in the diet, might improve the quality of life of DMD patients. Gingerol, a constituent of fresh ginger, statistically increased the locomotion of mutant larvae and upregulated the expression of heme oxygenase 1, a target gene for therapy aimed at improving dystrophic symptoms. Although three other compounds showed a partial positive effect on locomotor and muscle structure phenotypes, our nutraceutical screening study lent preliminary support to the efficacy and safety only of gingerol. Gingerol could easily be proposed as a dietary supplement in DMD.

scholarly journals Evaluation of the quality of life and sociodemographic features of patients with muscular dystrophies

2021 ◽  
Author(s):  
Askeri Turken
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Marital Status ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Educational Levels ◽  
Sociodemographic Data ◽  
Significant Difference ◽  
The Mean

Objective: Muscular dystrophies refers to a group of primary inherited myopathies that exhibit a chronic and unremitting progressive course. Quality of life is a concept, which mainly reflects individual responses given by a person to the physical, psychological, social and environmental impacts of the disease. In this study we aimed to evaluate quality of life and sociodemographic features of 146 patients who presented to the physical therapy and rehabilitation neuromuscular diseases outpatient clinic of our hospital. Methods: Patients’ sociodemographic data including gender, marital status and educational level were recorded and analyzed. WHOQOL-BREF survey was performed in order to determine quality of life in patients with muscular dystrophy. The scores obtained from the survey were transformed into WHOQOL 4-20 and WHOQOL 0-100 score ranges, and relationships between the sociodemographic data of the patients and WHOQOL-BRIEF survey results were evaluated. Results: Eighty-five (58.2%) patients were male and 61 (41.8%) were female. No statistically significant difference was found between the male and female MD patients in terms of the physical, psychological, social relationships and environmental domains of WHOQOL-BREF scale (for all p>0.05). No significant difference was found between single, married, divorced and widowed patients (for all p>0.05). There were significant differences between educational levels of the patients in terms of the mean WHOQOL-BREF scores (p<0.05). The mean scores increased as educational levels increased. Conclusion: Quality of life increases with the levels of education and does not differ according to gender and marital status in patients with muscular dystrophy. Patients with muscular dystrophy should be encouraged for education from the pediatric period.

scholarly journals Anorectal Dysfunction in Multiple Sclerosis: A Systematic Review

2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
Sanober Nusrat ◽  
Elsie Gulick ◽  
David Levinthal ◽  
Klaus Bielefeldt
Keyword(s):  
Quality Of Life ◽  
Multiple Sclerosis ◽  
Fecal Incontinence ◽  
English Language ◽  
Controlled Trial ◽  
Neuromuscular Diseases ◽  
Anorectal Dysfunction ◽  
Pubmed Database ◽  
Marginal Improvement

Constipation and fecal incontinence are common in patients with neuromuscular diseases. Despite their high prevalence and potential impact on overall quality of life, few studies have addressed anorectal dysfunction in patients with multiple sclerosis (MS). The goal of this paper is to define the prevalence, pathophysiology, impact, and potential treatment of constipation and incontinence in MS patients. Methods. The PubMed database was searched for English language publications between January 1973 and December 2011. Articles were reviewed to assess the definition of the study population, duration, type and severity of MS, sex distribution, prevalence, impact, results of physiologic testing, and treatments. Results. The reported prevalence of constipation and fecal incontinence ranged around 40%. Anorectal dysfunction significantly affected patients with nearly 1 in 6 patients limiting social activities or even quitting work due to symptoms. Caregivers listed toileting as a common and significant burden. The only randomized controlled trial showed a marginal improvement of constipation with abdominal massage. All other reports lacked control interventions and only demonstrated improvement in individuals with milder symptoms. Conclusion. Anorectal dysfunction is a common manifestation in MS that significantly affects quality of life. Therapies are at best moderately effective and often cumbersome, highlighting the need for simple and more helpful interventions.

Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

2021 ◽  
Vol 24 (10) ◽  
pp. 1490-1498
Author(s):  
Erik Landfeldt ◽  
Joel Iff ◽  
Erik Henricson ◽  
V. Vishwanathan ◽  
S. Chidambaranathan ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Rasch Analysis ◽  
Quality Of Life Inventory ◽  
Life Inventory

Effectiveness of Teleassistance at Improving Quality of Life in People with Neuromuscular Diseases

2014 ◽  
Vol 17 ◽  
Author(s):  
Oscar Martínez ◽  
Amaia Jometón ◽  
Manuel Pérez ◽  
Esther Lázaro ◽  
Imanol Amayra ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Social Interaction ◽  
New Technologies ◽  
Neuromuscular Diseases ◽  
Control Group ◽  
Related Quality ◽  
Health Related ◽  
Low Prevalence ◽  
Psychosocial Domain

AbstractRare neuromuscular diseases (NDs) are a group of inherited or acquired neurological pathologies affecting the muscles and the nervous system. Their low prevalence and high geographical dispersion can cause isolation and difficulties in social interaction between affected equals. New technologies, such as videoconferencing, offer a complementary option for improving the health of this population. The purpose of this study was to assess the effectiveness of a teleassistance program at improving health-related quality of life (HRQoL) through social interaction in adults with NDs. The sample consisted of 45 participants affected by rare NDs. Twenty-four participants were assigned to the experimental group (EG), which participated in the videoconferencing sessions, and 21 to the control group. Three questionnaires were administered: WHO-DAS II, Sickness Impact Profile, and SF-36 Health Survey. Effectiveness was assessed by a pre-post design. An online psychosocial program was applied over three-month period. Data revealed an improvement of the EG in psychosocial variables, e.g. “Getting along with people” (z = –2.289, r = –.47, p ≤ .05) or “Psychosocial Domain” (z = –2.404, r = –.49, p ≤ .05), and in physical variables, e.g. “Life activities” (z = –2.844, r = –.58, p ≤ .05). Social interaction appeared as a relevant factor at improving HRQoL levels. High levels of satisfaction about the teleassistance program were reported.

scholarly journals Zytux in Refractory Myasthenia Gravis: A Multicenter, Open-Labeled, Clinical Trial Study of Effectiveness and Safety of a Rituximab Biosimilar

2021 ◽  
Vol 12 ◽  
Author(s):  
Farzad Fatehi ◽  
Kamyar Moradi ◽  
Ali Asghar Okhovat ◽  
Ghazaleh Shojatalab ◽  
Behnaz Sedighi ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Trial ◽  
Myasthenia Gravis ◽  
Clinical Status ◽  
Neuromuscular Disorder ◽  
Clinical Trial Registration ◽  
Prednisolone Dose ◽  
Immune Mediated ◽  
Post Infusion

Objectives: Myasthenia gravis (MG) is an immune-mediated neuromuscular disorder responsive to immunomodulatory treatments. 10–20% of MGs are not responsive to conventional first-line therapies. Here, we sought to investigate the efficacy and safety of rituximab therapy in the treatment of patients with refractory MG.Methods: In a 48-week, multicenter, open-labeled, prospective cohort setting, 34 participants with refractory MG were assigned to receive infusions of Zytux, which is a rituximab biosimilar, according to a validated protocol. Clinical, functional, and quality of life (QoL) measurements were recorded at baseline, and seven further visits using the Myasthenia Gravis Foundation of America (MGFA), Myasthenia Gravis Composite (MGC), Myasthenia Gravis Activities of Daily Living profile (MG-ADL), and Myasthenia Gravis Quality of Life (MGQoL-15) scales. Besides, the post-infusion side effects were systematically assessed throughout the study.Results: The correlation analysis performed by generalized estimating equations analysis represented a significant reduction of MGC, MG-ADL, and MGQoL-15 scores across the trial period. The subgroup analysis based on the patients' clinical status indicated a significant effect for the interaction between time and MGFA subtypes on MG-ADL score, MGC score, and pyridostigmine prednisolone dose, reflecting that the worse clinical condition was associated with a better response to rituximab. Finally, no serious adverse event was documented.Conclusions: Rituximab therapy could improve clinical, functional, and QoL in patients with refractory MG in a safe setting. Further investigations with larger sample size and a more extended follow-up period are warranted to confirm this finding.Clinical Trial Registration: The study was registered by the Iranian Registry of Clinical Trials (IRCT) (Code No: IRCT20150303021315N18).

scholarly journals A.01 The relationship between fatigue and health-related quality of life in a clinical trial population of Duchenne muscular dystrophy patients

2017 ◽  
Vol 44 (S2) ◽  
pp. S8-S8
Author(s):  
Y Wei ◽  
B El-Aloul ◽  
C Nguyen ◽  
E Zapata-Aldana ◽  
C Campbell
Keyword(s):  
Quality Of Life ◽  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Parent Report ◽  
Health Related Quality ◽  
Patient Report ◽  
Related Quality ◽  
Health Related

Background: Fatigue was recently reported to be the largest contributor to poor health-related quality of life (HRQOL) in paediatric Duchenne muscular dystrophy (DMD). Additional studies are necessary to confirm the generalizability of this finding. Our objective was to explore the longitudinal relationship between fatigue and HRQOL in an additional cohort of DMD patients. Methods: We performed a secondary analysis of data from a clinical trial (NCT00592553), which enrolled patients with nonsense mutation DMD, aged 5–20 years, from 37 sites in 11 countries (N=174). Fatigue and HRQOL were assessed using the PedsQLTM Multidimensional Fatigue Scale and Generic Core Scales, respectively, by patient- and parent-report at baseline and over 48 weeks. Results: Patients reported greater fatigue than healthy controls from published data. There was no significant difference between patient- and parent-reported fatigue. Fatigue was significantly correlated with worse HRQOL at baseline, by patient-report (r=0.70, P<0.001) and parent-report (r=0.70, P<0.001); and at 48 weeks, by patient-report (r=0.79, P<0.001) and parent-report (r=0.74, P<0.001). Change in fatigue was significantly correlated with change in HRQOL over 48 weeks, by patient-report (r=0.64, P<0.001) and parent-report (r=0.67, P<0.001). Conclusions: Fatigue is a major contributor to HRQOL in DMD. The strong association between fatigue and HRQOL corroborates previous studies, and suggests that reducing fatigue may improve HRQOL.

scholarly journals P.072 Agreement between children and their parents’ ratings of the health-related quality of life of children with Duchenne Muscular Dystrophy

2018 ◽  
Vol 45 (s2) ◽  
pp. S35-S35
Author(s):  
S Brar ◽  
C Campbell ◽  
E McColl ◽  
W Martens ◽  
M McDermott ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Self Report ◽  
Health Related Quality ◽  
Related Quality ◽  
Health Related ◽  
Parent Proxy ◽  
Level Of Agreement

Background: When measuring young Duchenne Muscular Dystrophy (DMD) patients’ health-related quality of life (HRQoL), parent-proxy reports are heavily relied on. Therefore, it is imperative that the relationship between parent-proxy and child self-report HRQoL is understood. This study examined the level of agreement between children and their parent-proxy rating of the child’s HRQoL. Methods: We used FOR-DMD clinical trial baseline data. HRQoL, measured using the PedsQL inventory, was reported by 178 parent and child (ages 4 to 7 years) dyads. Intracorrelation coefficients (ICC) measured absolute agreement while paired t-tests determined differences in the average HRQoL ratings between groups. Results: The level of agreement between child and parent-proxy ratings of HRQoL was poor for the generic PedsQL scale (ICC: 0.29) and its subscales; and, similarly low for the neuromuscular disease module (ICC:0.16). On average, parents rated their child’s HRQoL as poorer than the children rated themselves in all scales except for psychosocial and school functioning. Conclusions: Child and parent-proxy HRQoL ratings are discordant in this study sample, as occurs in other chronic pediatric diseases. This should be taken into account when interpreting clinical and research HRQoL findings in this population. Future studies should examine reasons for parents’ perception of poorer HRQoL than that reported by their children.

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