Displaying publications 101 - 120 of 1512 in total

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  1. Sodergren SC, Hurley-Wallace A, Vassiliou V, Alkhaffaf B, Batsaikhan B, Darlington AS, et al.
    Gastric Cancer, 2024 Jul;27(4):722-734.
    PMID: 38668819 DOI: 10.1007/s10120-024-01492-8
    BACKGROUND: The EORTC QLQ-STO22 (QLQ-STO22) is a firmly established and validated measure of health-related quality of life (HRQoL) for people with gastric cancer (GC), developed over two decades ago. Since then there have been dramatic changes in treatment options for GC. Also, East Asian patients were not involved in the development of QLQ-STO22, where GC is most prevalent and the QLQ-STO22 is widely used. A review with appropriate updating of the measure was planned. This study aims to capture HRQoL issues associated with new treatments and the perspectives of patients and health care professionals (HCPs) from different cultural backgrounds, including East Asia.

    METHODS: A systematic literature review and open-ended interviews were preformed to identify potential new HRQoL issues relating to GC. This was followed by structured interviews where HCPs and patients reviewed the QLQ-STO22 alongside new issues regarding relevance, importance, and acceptability.

    RESULTS: The review of 267 publications and interviews with 104 patients and 18 HCPs (48 and 9 from East Asia, respectively) generated a list of 58 new issues. Three of these relating to eating small amounts, flatulence, and neuropathy were recommended for inclusion in an updated version of the QLQ-STO22 and covered by five additional questions.

    CONCLUSIONS: This study supports the content validity of the QLQ-STO22, suggesting its continued relevance to patients with GC, including those from East Asia. The updated version with additional questions and linguistic changes will enhance its specificity, but further testing is required.

    Matched MeSH terms: Quality of Life*
  2. Rajasegaran S, Ahmad NA, Tan SK, Lechmiannandan A, Tan YW, Sanmugam A, et al.
    Pediatr Surg Int, 2024 Jul 24;40(1):209.
    PMID: 39046543 DOI: 10.1007/s00383-024-05792-z
    PURPOSE: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without.

    METHODS: Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3-17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS).

    RESULTS: There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS.

    CONCLUSION: Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients.

    Matched MeSH terms: Quality of Life*
  3. Abdul Kadir NB, Ismail WNK, Abdullah NA, Helma R, Abdul Jalil SJ, Che Kasim A, et al.
    Int J Environ Res Public Health, 2021 Oct 03;18(19).
    PMID: 34639710 DOI: 10.3390/ijerph181910410
    The aim of this study was to validate the Short Multidimensional Inventory Lifestyle Evaluation-Confinement (SMILE-C) in a Malaysian context. The SMILE-C, which is a respondent-generated instrument, was used to ask participants questions on their lifestyle during the COVID-19 pandemic. The indices of seven sub-scores were then calculated. A total of 121 university staff members completed the Malay version of the SMILE-C as well as instruments for measuring well-being, family life satisfaction, mindfulness and awareness, work engagement, and quality of life. The Cronbach's alpha values and Pearson correlation coefficients were satisfactory in this initial validation of the instrument. The SMILE-C showed positive correlations with all the variables being studied. The results supported the criterion-related validity and psychometric properties of the Malay version of the SMILE-C as an instrument for assessing lifestyle changes during the COVID-19 pandemic.
    Matched MeSH terms: Quality of Life*
  4. Zhang Z, Azman N, Eyu HT, Nik Jaafar NR, Mohd Salleh Sahimi H, Mohamad Yunus MR, et al.
    Int J Environ Res Public Health, 2022 Nov 01;19(21).
    PMID: 36361144 DOI: 10.3390/ijerph192114266
    The assessment of stigma among cancer patients is of the utmost importance as stigma may lead to various psychological sequelae and a lower quality of life. This study aimed to translate the English version of the Shame and Stigma Scale (SSS) into Malay and validate the Malay version of the SSS (SSS-M) to assess the degree of stigma among cancer patients in Malaysia. Initially, the concurrent translation and back translation of the SSS-M were performed, and the face and content validity were assessed. Subsequently, the SSS-M was administered to a total of 234 patients with mixed types of cancer to assess its reliability (internal consistency and test-retest reliability), construct validity (convergent and discriminant validity), and conduct an exploratory factor analysis (EFA) and a confirmatory factor analysis (CFA). The SSS-M total score registered a good internal consistency (a Cronbach's α of 0.881) and test-retest reliability (an intraclass correlation coefficient of 0.876, p < 0.001). The EFA and CFA confirmed that the SSS-M consisted of 16 items in 3 domains. Its convergent and discriminant validity were achieved. Hence, the SSS-M demonstrated good psychometric properties and is available for use to assess stigma among cancer patients in Malaysia.
    Matched MeSH terms: Quality of Life*
  5. Fairlie T, Shah A, Talley NJ, Chey WD, Koloski N, Yeh Lee Y, et al.
    Lancet Gastroenterol Hepatol, 2023 Jul;8(7):646-659.
    PMID: 37211024 DOI: 10.1016/S2468-1253(23)00102-4
    BACKGROUND: Rome criteria differentiate distinct types of disorders of gut-brain interaction (DGBI); also known as functional gastrointestinal disorders. Overlap of symptom categories frequently occurs. This systematic review and meta-analysis aimed to define the prevalence of DGBI overlap and compare overlap in population-based, primary care or tertiary care health settings. Furthermore, we aimed to compare symptom severity of psychological comorbidities in DGBI with and without overlap.

    METHODS: For this systematic review and meta-analysis we searched MEDLINE (PubMed) and Embase electronic databases from inception until March 1, 2022, for original articles and conference abstracts of observational cross-sectional, case-controlled, or cohort design studies that reported the prevalence of DGBI overlap in adult participants (aged ≥18 years). We included only those studies where the diagnosis of DGBI was based on clinical assessment, questionnaire data, or specific symptom-based criteria. Studies were excluded if reporting on mixed populations of DGBI and organic diseases. Aggregate patient data were extracted from eligible published studies. The prevalence of DGBI overlap in all studies was pooled using the DerSimonian and Laird random effects model, and further analysis stratified by subgroups (care setting, diagnostic criteria, geographic region, and gross domestic product per capita). We also assessed the relationship between DGBI overlap with anxiety, depression, and quality of life symptom scores. This study was registered with PROSPERO (CRD42022311101).

    FINDINGS: 46 of 1268 screened studies, reporting on 75 682 adult DGBI participants, were eligible for inclusion in this systematic review and meta-analysis. Overall, 24 424 (pooled prevalence 36·5% [95% CI 30·7 to 42·6]) participants had a DGBI overlap, with considerable between-study heterogeneity (I2=99·51, p=0·0001). In the tertiary health-care setting, overlap among participants with DGBI was more prevalent (8373 of 22 617, pooled prevalence 47·3% [95% CI 33·2 to 61·7]) compared with population-based cohorts (11 332 of 39 749, pooled prevalence 26·5% [95% CI 20·5 to 33·4]; odds ratio 2·50 [95% CI 1·28 to 4·87]; p=0·0084). Quality of life physical component scores were significantly lower in participants with DGBI overlap compared with participants without overlap (standardised mean difference -0·47 [95% CI -0·80 to -0·14]; p=0·025). Participants with DGBI overlap had both increased symptom scores for anxiety (0·39 [95% CI 0·24 to 0·54]; p=0·0001) and depression (0·41 [0·30 to 0·51]; p=0·0001).

    INTERPRETATION: Overlap of DGBI subtypes is frequent, and is more prevalent in tertiary care settings and associated with more severe symptom manifestations or psychological comorbidities. Despite the large sample size, the comparative analyses revealed substantial heterogeneity, and the results should be interpreted with caution.

    FUNDING: National Health and Medical Research Council and Centre for Research Excellence.

    Matched MeSH terms: Quality of Life*
  6. Mustafa AA, Raad K, Mustafa NS
    Clin Case Rep, 2015 Nov;3(11):907-11.
    PMID: 26576270 DOI: 10.1002/ccr3.373
    Here, we aimed to assess whether postoperative oral rehabilitation for mandibulectomy patients is necessary to improve patients' general health in terms of health-related quality of life.
    Matched MeSH terms: Quality of Life
  7. Wafa SW, Shahril MR, Ahmad AB, Zainuddin LR, Ismail KF, Aung MM, et al.
    PMID: 27146199 DOI: 10.1186/s12955-016-0474-y
    Research suggests that physical activity plays a role to improve health related- quality of life (QoL), however studies examining the association between physical activity and HRQOL are limited in the paediatric literature. The aim of this study is to explore the relationship between physical activity and HRQoL among Malaysian children.
    Matched MeSH terms: Quality of Life
  8. Lai PSM, Chua SS, Chan SP, Low WY
    Int J Rheum Dis, 2008;11(4):421-429.
    DOI: 10.1111/j.1756-185X.2008.00402.x
    Background: Osteoporotic fractures will soon become a common problem in Asian countries including Malaysia, as the growth in the elderly population will be more marked in this region. This leads to loss of independence and reduced quality of life (QOL). QOL is used as an outcome measure in clinical trials to focus the management of diseases on the patient rather than the disease. To date, no such instrument for measuring QOL of osteoporosis patients has been validated in Malaysia. Aim: To investigate the reliability and validity of the English version of the Quality of Life Questionnaire of the European Foundation for Osteoporosis (QUALEFFO) in Malaysia. Methods: QUALEFFO was administered twice to postmenopausal osteoporotic women on alendronate. The patient group consisted of 46 women with back pain while the control group consisted of 42 women without back pain. Results: High internal consistency was seen in all domains in the QUALEFFO with Cronbach α of 0.74-0.95 and 0.53-0.89 in the patient and control group, respectively. Factor analysis also showed that each domain consisted of one component except for the social domain. The test-retest reliability showed high correlation coefficient in all domains (0.50-0.90, P < 0.001). Patients with back pain showed significantly worse QOL in the overall total QUALEFFO score compared to the control group (P < 0.0001). Conclusions: The English version of QUALEFFO was found to be reliable and valid for the evaluation of patients with osteoporosis and who understand English in Malaysia. This study also indicates that patients with back pain have poorer QOL. © 2008 Asia Pacific League of Associations for Rheumatology.
    Matched MeSH terms: Quality of Life
  9. Lim, Lee Min
    MyJurnal
    Tobacco products can be classified into combustible and smokeless types. It kills up to half of the users and globally around 5 million deaths every year. There are strong associations between smoking and health-related quality of life (HRQOL) measures.
    Matched MeSH terms: Quality of Life
  10. Jafarlou M, Baradaran B, Saedi TA, Jafarlou V, Shanehbandi D, Maralani M, et al.
    J Biol Regul Homeost Agents, 2016 Apr-Jun;30(2):315-21.
    PMID: 27358116
    Gene therapy has become a significant issue in science-related news. The principal concept of gene therapy is an experimental technique that uses genes to treat or prevent disease. Although gene therapy was originally conceived as a way to treat life-threatening disorders (inborn defects, cancers) refractory to conventional treatment, it is now considered for many non–life-threatening conditions, such as those adversely impacting a patient’s quality of life. An extensive range of efficacious vectors, delivery techniques, and approaches for developing gene-based interventions for diseases have evolved in the last decade. The lack of suitable treatment has become a rational basis for extending the scope of gene therapy. The aim of this review is to investigate the general methods by which genes are transferred and to give an overview to clinical applications. Maximizing the potential benefits of gene therapy requires efficient and sustained therapeutic gene expression in target cells, low toxicity, and a high safety profile. Gene therapy has made substantial progress albeit much slower than was initially predicted. This review also describes the basic science associated with many gene therapy vectors and the present progress of gene therapy carried out for various surface disorders and diseases. The conclusion is that, with increased pathobiological understanding and biotechnological improvements, gene therapy will become a standard part of clinical practice.
    Matched MeSH terms: Quality of Life
  11. Yap FB, Kiung ST, Yap JB
    Indian Dermatol Online J, 2016 Jul-Aug;7(4):255-8.
    PMID: 27559497 DOI: 10.4103/2229-5178.185495
    There is a paucity of data on quality of life issues in patients with leprosy suffering from erythema nodosum leprosum (ENL). Thus, we aim to study the effect of ENL on quality of life.
    Matched MeSH terms: Quality of Life
  12. Goh WN, Mustapha M, Zakaria SZS, Bastion MC
    Indian J Ophthalmol, 2022 08;70(8):3026-3032.
    PMID: 35918966 DOI: 10.4103/ijo.IJO_3198_21
    Purpose: To determine the effectiveness of laser vitreolysis in terms of contrast sensitivity function (CSF) and vision-related quality of life (VRQol) for symptomatic floaters due to posterior vitreous detachment (PVD).

    Materials: This is an interventional study that involved 57 eyes of 45 patients with symptomatic floaters for more than 3 months. Patients underwent one to three sessions of vitreolysis via Neodymiun-doped Yttrium Aluminum Garnet (Nd:YAG) laser. We examined the CSF using the computer programs Freiburg Acuity and Contrast Test (FrACT) and VRQoL survey using the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25) before, and 1 month after, vitreolysis.

    Results: Twelve patients had both eyes lasered and 33 patients had one eye lasered. The mean CSF improved from 3.20 ± 0.85%W to 2.64 ± 0.63%W 1 month after vitreolysis. Each use of the laser showed a significant mean difference in CSF (%W) as analyzed by paired t-test before and after the first laser (0.29 ± 0.49%W [P ≤ 0.001]); after the first and second laser (0.35 ± 0.53%W [P = 0.01]); and after second and third laser (0.21 ± 0.31%W [P = 0.02]). There was improvement in the median of four subscales in NEI VFQ-25 scores post treatment: general vision (z = -3.30, P = 0.001), near activity (z = 3.396, P = 0.001, distance activity (z = -2.788, P = 0.005), and mental health (z = -2.219, P = 0.026). The mean scores increased to 79.55 ± 9.45 from the baseline 75.06 ± 9.69 (P ≤ 0.001). No adverse events were recorded 1 month after the laser treatments.

    Conclusion: Vitreolysis by Nd:YAG laser improved the CFS and VRQoL in symptomatic PVD patients.

    Matched MeSH terms: Quality of Life
  13. Sundar VV, Ong SH, Easaw MEPM, Chee WSS
    Clin Nutr ESPEN, 2021 12;46:380-385.
    PMID: 34857224 DOI: 10.1016/j.clnesp.2021.08.039
    BACKGROUND & AIMS: Sarcopenia has been shown associated with functional decline, disability, poorer quality of life and mortality. However, there are limited studies among hospitalised cardiac patients in Malaysia. This study aimed to identify the association of sarcopenia and type 2 diabetes mellitus (T2DM) with clinical outcomes among hospitalised cardiac patients.

    METHODS: This prospective observational study assessed 100 patients who were admitted to the general wards at the National Heart Institute. We measured handgrip strength, body composition using bioelectrical impedance analysis (BIA) and recorded the length of stay (LOS), unplanned readmission and incidence of infection within 90 days after discharge. Logistic regression analysis at a significant level p 

    Matched MeSH terms: Quality of Life
  14. Shuzhen L, Hongyan G, Wei W, Ruiying W, Mulud ZA
    J Popul Ther Clin Pharmacol, 2022;29(4):e97-e106.
    PMID: 36441056 DOI: 10.47750/jptcp.2022.991
    The awareness and utilization of psychological therapies for Alzheimer's disease have increased significantly in recent years. Limitations on the utilization of pharmacological therapy for Alzheimer's disease in China have corresponded with this surge in greater studies in the field. For individuals who have Alzheimer's disease, cognitive stimulation therapy (CST) is a quick self-help that is founded on the theories of quality and cognitive functioning. People with Alzheimer's disease often participate in cognitive behavioral programs; however, their expense has never been studied. Being part of a meta-analysis, we analyze the application effectiveness of a CST program that is based on recent research for Alzheimer's disease patients. A CST group therapy was given to 91 Alzheimer's patients, who resided in healthcare settings or the general public, multiple times per week for 8 weeks; the other 70 people with Alzheimer's disease got a medical therapy. Costs were computed, and resource utilization was tracked for 8 weeks both before and after the therapy. It was determined by a value study. In the value study, cognition and quality of life were the major and tertiary outcomes, respectively. Contours of cost-effectiveness and acceptance were drawn. It was driven based on expert consultation and semistructured interviews. In Alzheimer's disease, CST improves intelligence and standard of living, and there was no difference in implementation expenditures between the categories. Regarding both outcome metrics, there is a significant chance that CST seems to be more expensive than conventional therapy within realistic expectations. The efficacy of CST for Alzheimer's patients is superior to conventional treatment, and it could be the greater value. The outcomes contrast well with pharmacological studies for Alzheimer's. Many people with Alzheimer's disease may benefit significantly from CST groups.
    Matched MeSH terms: Quality of Life
  15. Shafin N, Ismail CAN, Mustafa MZ, Ghani N, Ahmad AH, Othman Z, et al.
    Mult Scler, 2022 Dec;28(14):2160-2170.
    PMID: 35164590 DOI: 10.1177/13524585221075542
    Recent interest in multiple sclerosis research warrants literature analysis to evaluate the current state of the discipline and new research domains. This bibliometric review summarised the research trends and analysed research areas in multiple sclerosis over the last decade. The documents containing the term 'multiple sclerosis' in the article title were retrieved from the Scopus database. We used Harzing's Publish or Perish and VOSviewer for citation analysis and data visualisation, respectively. We found a total of 18,003 articles published in journals in the English language between 2012 and 2021. The emerging keywords identified utilising the enhanced strategic diagram were 'covid-19', 'teriflunomide', 'clinical trial', 'microglia', 'b cells', 'myelin', 'brain', 'white matter', 'functional connectivity', 'pain', 'employment', 'health-related quality of life', 'meta-analysis' and 'comorbidity'. This study demonstrates the tremendous growth of multiple sclerosis literature worldwide, which is expected to grow more than double during the next decade especially in the identified emerging topics.
    Matched MeSH terms: Quality of Life
  16. Syed Alwi SM, Mazlan M, Mohd Taib NA, Che Din N, Narayanan V
    PLoS One, 2022;17(11):e0277056.
    PMID: 36395277 DOI: 10.1371/journal.pone.0277056
    OBJECTIVE: Chemotherapy-related cognitive impairment (CRCI) is a well-known phenomenon among breast cancer survivors. Cognitive impairment among breast cancer survivors can significantly affect their quality of life and ability to function independently. However, there is a lack of specific and focused cognitive intervention to improve their cognitive performances. This study aimed to develop a tailored cognitive intervention framework module by adapting the attention and memory interventions from the Cognitive Rehabilitation Manual of the Brain Injury Interdisciplinary Special Interest Group (BI-SIG) of the American Congress of Rehabilitation Medicine (ACRM) and incorporating them with the relevant exercises for cognitive rehabilitation for Malaysian breast cancer survivors with CRCI based on the consensus agreement of the expert panel.

    METHODS AND ANALYSIS: The Delphi consensus technique was conducted online to review and evaluate the framework module. A panel of experts, including rehabilitation medicine physicians, occupational therapists, and clinical psychologists in Malaysia, was invited to participate in this study. For each round, the expert consensus was defined as more than 90% of the expert panel agreeing or strongly agreeing with the proposed items.

    RESULTS: A total of 33 practitioners completed the three Delphi rounds. 72.7% of the expert panel have been practising in their relevant clinical fields for more than six years (M = 10.67, SD = 5.68). In Round 1, 23% of the experts suggested that the framework module for attention training required further improvements, specifically in the language (M = 1.97, SD = 0.75) and instructions (M = 2.03, SD = 0.71) provided. In Round 2, 15% of the experts recommended additional changes in the instruction (M = 2.15, SD = 0.67) for attention training. Amendments made to the framework module in line with the recommendations provided by the experts resulted in a higher level of consensus, as 94% to 100% of the experts in Round 3 concluded the framework module was suitable and comprehensive for our breast cancer survivors. Following the key results, the objectives were practical, and the proposed approaches, strategies, and techniques for attention and memory training were feasible. The clarity of the instructions, procedures, verbatim transcripts, and timeframe further enhanced the efficacy and utility of the framework module.

    CONCLUSIONS: This study found out that the cognitive intervention framework module for breast cancer survivors with cognitive impairment following chemotherapy can be successfully developed and feasible to be implemented using Delphi technique.

    Matched MeSH terms: Quality of Life
  17. Engkasan JP
    NeuroRehabilitation, 2023;52(1):149-151.
    PMID: 36617764 DOI: 10.3233/NRE-228028
    BACKGROUND: Pressure ulcers may develop in people with impaired mobility, sensation, or cognition. Alternating pressure (active) air beds, overlays and mattresses are commonly used to prevent pressure ulcers.

    OBJECTIVE: This Cochrane Review aimed to determine the effects of alternating pressure (active) air beds, overlays or mattresses compared with any support surface in preventing pressure ulcers.

    METHODS: The population addressed was people at risk of and with existing pressure ulcers. Studies comparing alternating pressure (active) air surfaces with any beds, overlays or mattresses were included. The outcomes studied were pressure ulcer incidence, patient support-surface-associated comfort, adverse events, health-related quality of life and cost-effectiveness.

    RESULTS: There were 32 studies with a total of 9058 participants. There is low certainty evidence that alternating pressure (active) air surfaces compared with foam surfaces may reduce the incidence of pressure ulcers. It is uncertain whether there is a difference in the proportion of people developing new pressure ulcers between alternating pressure (active) air surfaces and reactive water-filled, fibre, air, gel or standard hospital surfaces.

    CONCLUSION: The use of alternating pressure (active) air surfaces may reduce the incidence of pressure ulcers compared to foam surfaces. However, it is uncertain if it is superior to reactive air surfaces, water surfaces and fiber surfaces in preventing pressure ulcers.

    Matched MeSH terms: Quality of Life
  18. Ramli R, Ghani N, Taib H, Mat-Baharin NH
    Dent Med Probl, 2022;59(3):451-460.
    PMID: 36206495 DOI: 10.17219/dmp/143354
    The prevalence of dentin hypersensitivity (DH) is increasing around the world. At least one in 10 individuals in the general population has been diagnosed with DH. It is a diagnosis that has significant negative effects on a person's oral health-related quality of life. This condition, which is characterized by sharp, short tooth pain in response to thermal, chemical, tactile, and evaporative stimuli, is more commonly seen in adults. DH has a tremendous impact on the social and financial aspects of patients and society at large. It is essential to recognize the factors that can contribute to a successful treatment outcome to guarantee the overall well-being of DH patients. The aim of this narrative review was to highlight strategies that can lead to successful DH treatment outcomes, along with current updates on DH mechanisms, treatment options, and the latest management approaches. A positive treatment outcome for DH requires a concerted effort from both the patient and the dental practitioner. Highly motivated patients and dental practitioners with sound knowledge of DH diagnosis and available treatment options will ensure successful long-term improvement of DH symptoms.
    Matched MeSH terms: Quality of Life
  19. Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, et al.
    Amyloid, 2023 Mar;30(1):1-9.
    PMID: 35875890 DOI: 10.1080/13506129.2022.2091985
    BACKGROUND: The study objective was to assess the effect of vutrisiran, an RNA interference therapeutic that reduces transthyretin (TTR) production, in patients with hereditary transthyretin (ATTRv) amyloidosis with polyneuropathy.

    METHODS: HELIOS-A was a phase 3, global, open-label study comparing the efficacy and safety of vutrisiran with an external placebo group (APOLLO study). Patients were randomized 3:1 to subcutaneous vutrisiran 25 mg every 3 months (Q3M) or intravenous patisiran 0.3 mg/kg every 3 weeks (Q3W) for 18 months.

    RESULTS: HELIOS-A enrolled 164 patients (vutrisiran, n = 122; patisiran reference group, n = 42); external placebo, n = 77. Vutrisiran met the primary endpoint of change from baseline in modified Neuropathy Impairment Score +7 (mNIS+7) at 9 months (p = 3.54 × 10-12), and all secondary efficacy endpoints; significant improvements versus external placebo were observed in Norfolk Quality of Life-Diabetic Neuropathy, 10-meter walk test (both at 9 and 18 months), mNIS+7, modified body-mass index, and Rasch-built Overall Disability Scale (all at 18 months). TTR reduction with vutrisiran Q3M was non-inferior to within-study patisiran Q3W. Most adverse events were mild or moderate in severity, and consistent with ATTRv amyloidosis natural history. There were no drug-related discontinuations or deaths.

    CONCLUSIONS: Vutrisiran significantly improved multiple disease-relevant outcomes for ATTRv amyloidosis versus external placebo, with an acceptable safety profile.

    CLINICALTRIALS.GOV: NCT03759379.

    Matched MeSH terms: Quality of Life
  20. Tan KL, Lee HC, Cheah PS, Ling KH
    Neuroscience, 2023 Feb 10;511:1-12.
    PMID: 36496187 DOI: 10.1016/j.neuroscience.2022.12.003
    Mitochondrial dysfunctions have been described in Down syndrome (DS) caused by either partial or full trisomy of chromosome 21 (HSA21). Mitochondria play a crucial role in various vital functions in eukaryotic cells, especially in energy production, calcium homeostasis and programmed cell death. The function of mitochondria is primarily regulated by genes encoded in the mitochondrion and nucleus. Many genes on HSA21 are involved in oxidative phosphorylation (OXPHOS) and regulation of mitochondrial functions. This review highlights the HSA21 dosage-sensitive nuclear-encoded mitochondrial genes associated with overexpression-related phenotypes seen in DS. This includes impaired mitochondrial dynamics, structural defects and dysregulated bioenergetic profiles such as OXPHOS deficiency and reduced ATP production. Various therapeutic approaches for modulating energy deficits in DS, effects and molecular mechanism of gene therapy and drugs that exert protective effects through modulation of mitochondrial function and attenuation of oxidative stress in DS cells were discussed. It is prudent that improving DS pathophysiological conditions or quality of life may be feasible by targeting something as simple as cellular mitochondrial biogenesis and function.
    Matched MeSH terms: Quality of Life
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