Therapeutic Advances in Chronic Disease最新文献

{"title":"Metabolic dysfunction-associated steatotic liver disease: an emerging comorbidity in COPD.","authors":"Ali Al Dailaty, Ahmad Ghanem, Ghaydaa Abou Daher, Toufic Chaaban, Rajaa Chatila","doi":"10.1177/20406223251378868","DOIUrl":"10.1177/20406223251378868","url":null,"abstract":"<p><p>Chronic obstructive pulmonary disease (COPD) and metabolic dysfunction-associated steatotic liver disease (MASLD) are highly prevalent conditions that frequently coexist. MASLD, now the leading cause of chronic liver disease globally, affects up to 25% of the population and is increasingly recognized in COPD patients. Shared cardiometabolic risk factors, chronic inflammation, and lipid-mediated injury underpin their pathophysiological link. This review outlines the epidemiology, shared mechanisms, and clinical impact of MASLD in COPD, as well as diagnostic strategies and current management approaches. Recognizing MASLD as a clinically significant comorbidity in COPD may offer new opportunities for risk stratification, integrated care, and targeted therapeutic interventions, underscoring the need for further research into their mechanistic interplay and bidirectional impact.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251378868"},"PeriodicalIF":2.8,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Practitioner's perception of myasthenia gravis management recommendations in clinical practice: a cross-sectional survey study.","authors":"Elena Cortés-Vicente, Antonio Guerrero-Sola, Fernando Caballero-Martínez, Francisco Javier Campos-Lucas, Juan Gómez-Salgado, Diana Monge-Martín, Rodrigo Álvarez-Velasco","doi":"10.1177/20406223251368063","DOIUrl":"10.1177/20406223251368063","url":null,"abstract":"<p><strong>Background: </strong>Myasthenia gravis (MG) is a chronic, fluctuating disease whose unique natural history complicates designing therapeutic trials. The evidence on which many MG management recommendations are based is limited.</p><p><strong>Objective: </strong>To determine the degree of knowledge, agreement, and application of internationally recognized recommendations for managing MG in actual practice.</p><p><strong>Design: </strong>A cross-sectional survey was conducted among Spanish neurologists specializing in MG.</p><p><strong>Methods: </strong>The survey assessed knowledge, agreement, and application of recommendations, along with the degree of agreement with international consensus definitions from the Myasthenia Gravis Foundation of America.</p><p><strong>Results: </strong>Fifty-three neurologists (mean age 45.4 years, 53% men) attended an average of 3.6 patients with MG daily. In 40 out of 61 recommendations, at least 90% of the neurologists were aware of the recommendation. The least known recommendations dealt with juvenile MG and MG in pregnancy. There was no majority agreement in two recommendations (for MG in pregnancy and the use of intravenous immunoglobulin in mild or ocular MG). The implementation of the recommendations was high except for the ones related to plasma exchange, thymectomy, methotrexate, or eculizumab.</p><p><strong>Conclusion: </strong>The recommendations are well-known, agreed upon, and applied. However, the evidence, consensus, and knowledge dissemination need reinforcement regarding aspects such as the management of juvenile MG, MG in pregnancy, or the use of certain treatments.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251368063"},"PeriodicalIF":2.8,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12426394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Joint effects of prognostic nutritional index and skeletal muscle index on prognosis of decompensated cirrhosis: a retrospective cohort study.","authors":"Shuangzhe Yao, Binbin Peng, Jia Li, Ziyi Yang, Chao Sun","doi":"10.1177/20406223251369763","DOIUrl":"10.1177/20406223251369763","url":null,"abstract":"<p><strong>Background: </strong>Liver cirrhosis, characterized by chronic inflammation, is frequently complicated by malnutrition. Nutritional indices, such as the prognostic nutritional index (PNI) and the skeletal muscle index (SMI), calculated as the muscle area quantified via CT scans at the third lumbar vertebra level divided by the square of the patient's height in meters (cm²/m²), are associated with outcomes in inflammatory diseases.</p><p><strong>Objectives: </strong>We aimed to evaluate the diagnostic efficacy of the PNI both independently and in combination with the SMI for identifying malnutrition in cirrhosis and to explore their prognostic implications.</p><p><strong>Design: </strong>A single-center retrospective cohort study of 262 hospitalized cirrhotic patients (2018-2023). Malnutrition was assessed using PNI, PNI-SMI, and Global Leadership Initiative on Malnutrition (GLIM) criteria, respectively.</p><p><strong>Methods: </strong>Nutritional status was defined by PNI (<28.85), PNI-SMI (either reduced PNI or SMI), and GLIM criteria. SMI was quantified via third lumbar vertebra CT scans. Diagnostic performance was evaluated using sensitivity, specificity, and area under the curve (AUC). Cox regression and Kaplan-Meier analyses assessed associations with 1-year mortality.</p><p><strong>Results: </strong>The prevalence of malnutrition, as determined by various criteria, was considerably heterogeneous: 26.72% by the PNI, 56.11% by the PNI-SMI, and 51.14% by the GLIM criteria. Patients classified as malnourished demonstrated inferior clinical parameters and a higher 1-year mortality rate. The PNI-SMI combination exhibited favorable diagnostic performance in detecting malnutrition, with a sensitivity of 75.51%, specificity of 80%, along with an area under the curve of 0.774. Multivariate Cox analysis indicated that all three malnutrition criteria were independently associated with 1-year all-cause mortality, with hazard ratios of 2.56, 4.20, and 7.20, respectively.</p><p><strong>Conclusion: </strong>The PNI, particularly when integrated with the SMI, offers a streamlined yet moderately accurate tool for nutritional and prognostic assessment in decompensated cirrhosis. This combined approach may serve as a practical supplement to GLIM criteria in select clinical contexts, potentially improving outcomes through targeted nutritional interventions.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251369763"},"PeriodicalIF":2.8,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145016207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Smoking, alcohol consumption, and new-onset impaired glucose metabolism in male patients with type 1 autoimmune pancreatitis: a retrospective cohort study.","authors":"Wenfeng Xi, Xiaoyin Bai, Tao Guo, Hanze Du, Yueyi Zhang, Xinyuan Cao, Qingwei Jiang, Yunlu Feng, Aiming Yang","doi":"10.1177/20406223251371512","DOIUrl":"10.1177/20406223251371512","url":null,"abstract":"<p><strong>Background: </strong>Type 1 autoimmune pancreatitis (AIP) is more prevalent among males, a significant proportion of whom are known to smoke and consume alcohol, both of which can cause damage to the pancreas. AIP is associated with the new-onset impaired glucose metabolism (NO-IGM). However, it remains unclear whether smoking and alcohol consumption exacerbate this risk.</p><p><strong>Objectives: </strong>The present study aims to clarify the potential impact of smoking and alcohol consumption on the risk of NO-IGM in male patients with type 1 AIP.</p><p><strong>Design: </strong>A retrospective cohort study.</p><p><strong>Methods: </strong>This retrospective cohort study included 305 male patients with type 1 AIP. The participants were categorized into four groups based on smoking and drinking status: neither, smoking-only, drinking-only, and both group. The impact of smoking and heavy drinking on AIP-related IGM was analyzed using multivariate modified Poisson regression.</p><p><strong>Results: </strong>The prevalence of NO-IGM was 40.66% in the study. In the multivariate modified Poisson regression analysis, smoking-only group (relative risk (RR), 2.44; 95% CI, 1.70-3.51) and both smoking and drinking (RR, 2.84; 95% CI, 1.93-4.19) were associated with an increased risk of type 1 AIP-related NO-IGM. Drinking only (estimated RR >1) also appeared to elevate this risk.</p><p><strong>Conclusion: </strong>In male patients with type 1 AIP, smoking and heavy drinking may increase the risk of AIP-related NO-IGM.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251371512"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12402637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic and opportunistic screening for atrial fibrillation and other arrhythmias in patients with obstructive sleep apnea: a prospective, single-center, cross-sectional study.","authors":"Tachawut Tiensuntisook, Voravut Rungpradubvong, Naruepat Sangpornsuk, Mananchaya Thapanasuta, Ronpichai Chokesuwattanaskul, Somchai Prechawat, Nattapong Jaimchariyatam","doi":"10.1177/20406223251348336","DOIUrl":"10.1177/20406223251348336","url":null,"abstract":"<p><strong>Background: </strong>Patients with obstructive sleep apnea (OSA) may be at high risk for atrial fibrillation (AF), but data on the benefits of early AF screening in this population, including the prevalence of AF detected through such screening, remain limited.</p><p><strong>Objectives: </strong>This study evaluates the prevalence of AF in OSA patients using three screening methods and aims to identify the most effective approach, as well as the potential benefits of early AF detection in this population.</p><p><strong>Design: </strong>Prospective, single-center, cross-sectional study.</p><p><strong>Methods: </strong>This study assessed AF prevalence using three screening methods: opportunistic screening via pulse taking during a routine visit, systematic screening with a handheld electrocardiogram (EKG), and EKG during polysomnography. The analysis also included the proportion of patients with positive screenings who were indicated for anticoagulation and the prevalence of other non-AF arrhythmias.</p><p><strong>Results: </strong>A total of 201 OSA patients were enrolled, with a mean age of 46 years and a mean CHA₂DS₂-VASc score of 1. The prevalence of AF was 1.5%, 2.5%, and 2.0% when detected by pulse taking, handheld EKG, and EKG during polysomnography, respectively, with no statistically significant difference (<i>p</i> = 0.933). All patients with positive screenings were indicated for oral anticoagulant therapy. The prevalence of other non-AF arrhythmias was higher than in the general population, and detecting arrhythmias during sleep appeared to be more effective than detecting them while awake, particularly for atrial tachycardia.</p><p><strong>Conclusion: </strong>The prevalence of AF in OSA patients ranged from 1.5% to 2.5%, with the highest rate observed in handheld EKG systematic screening, though the difference was not statistically significant. Non-AF arrhythmias were also more common than in the general population, highlighting the need for broader arrhythmia surveillance. Further large-scale studies in higher-risk OSA populations are needed to confirm the benefits of systematic AF screening.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251348336"},"PeriodicalIF":2.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12375163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144970268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatitis and periodontal health: an emerging oral-liver axis.","authors":"Ruth Rodríguez-Montaño, Melissa Martínez-Nieto, Gustavo Eder González-Alvarez, Mario Alberto Alarcón-Sánchez, Julieta Sarai Becerra-Ruiz, Artak Heboyan, Alba Ruiz-Gaitán, Sarah Monserrat Lomelí-Martínez","doi":"10.1177/20406223251368090","DOIUrl":"10.1177/20406223251368090","url":null,"abstract":"<p><p>Periodontitis and viral liver infections, particularly hepatitis B virus (HBV) and hepatitis C virus (HCV), are chronic inflammatory conditions with a high prevalence worldwide. Recent evidence establishes a possible bidirectional relationship between the two, based on shared immunological, microbial, and inflammatory mechanisms. The objective of this study was to analyze and synthesize the scientific literature on the interactions between viral hepatitis and periodontal health. Through a structured search of the PubMed, Scopus, and Web of Science databases, studies published in the last 20 years that explored the link between viral hepatitis and periodontitis were integrated. The findings from the reviewed studies show consistent, positive associations between HBV and HCV viruses and a higher prevalence and severity of periodontitis. Some studies show increased levels of proinflammatory cytokines (such as IL-6 and TNF-α) and immune dysfunction in participants with both diseases. Additionally, viral markers (such as HBsAg and HCV RNA) have been identified in gingival crevicular fluid, suggesting the presence of oral viral reservoirs. Ultimately, scientific evidence suggests a bidirectional relationship between viral hepatitis and periodontitis, influenced by systemic inflammation, immunological alterations, and microbial dysbiosis. The collected data support the relevance of interdisciplinary management between medical and dental professionals in patients with viral liver conditions.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251368090"},"PeriodicalIF":2.8,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12368331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144970254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of choline supplementation on oxidative stress and clinical outcomes among patients with non-alcoholic fatty liver disease: a randomized controlled study.","authors":"Sylvia S Sedhom, Lamia M El Wakeel, Eman M F Barakat, Hend I Shousha, Mostafa A Shamkh, Salwa H Salama, Doaa Z Zaky, Amal A El Kholy","doi":"10.1177/20406223251358659","DOIUrl":"10.1177/20406223251358659","url":null,"abstract":"<p><strong>Background: </strong>Non-alcoholic fatty liver disease (NAFLD) is a prevalent condition characterized by the accumulation of fat in the liver. Nutrition, particularly micronutrients, plays a crucial role in the development and progression of NAFLD.</p><p><strong>Objectives: </strong>This study aimed to assess the impact of choline supplementation on oxidative stress, inflammation, and clinical outcomes in patients with NAFLD.</p><p><strong>Design: </strong>A randomized, controlled, single-blinded study.</p><p><strong>Methods: </strong>Eligible NAFLD patients were randomized to; <i>choline group</i> (<i>n</i> = 39), received conventional management plus phosphatidylcholine (PC) 2400 mg/day for 12 weeks, or c<i>ontrol group</i> (<i>n</i> = 40), received conventional management for 12 weeks, and 10 healthy volunteers were included. Anthropometric, clinical, and laboratory evaluations were performed at baseline and after treatment.</p><p><strong>Results: </strong>After 12 weeks, choline group showed significant differences versus controls by improvement in controlled attenuation parameter (304 vs 332 dB/m, <i>p</i> < 0.001) and fibrosis score (5.3 vs 6.8 kPa, <i>p</i> < 0.001), reduction in thiobarbituric acid reactive substances levels (1.9 vs 3.8 nmol/mL, <i>p</i> < 0.001), a decline in leptin levels (1.3 vs 2.1 ng/mL, <i>p</i> < 0.001) and liver enzyme (alanine aminotransferase and aspartate aminotransferase), <i>p</i> < 0.001 and 0.004 respectively). Also, the lipid profile improved by a significant decline in triglyceride levels in choline versus controls 133 versus 158, <i>p</i> = 0.048.</p><p><strong>Conclusion: </strong>Choline supplementation in NAFLD patients demonstrated a favorable impact on hepatic steatosis, oxidative stress, inflammatory markers, liver enzyme levels, and lipid profile. These findings suggest that choline may be a promising therapeutic option for NAFLD management. Further large-scale, long-term studies are warranted to investigate the clinical benefits of choline supplementation in NAFLD patients.</p><p><strong>Trial registration: </strong>The study was registered at clinicaltrials.gov and given the ID number: NCT05200156.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251358659"},"PeriodicalIF":2.8,"publicationDate":"2025-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12361734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144970278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the therapeutic efficacy of microcurrent therapy: a narrative review.","authors":"Sarahrose Jonik, Andrew J Rothka, Neyha Cherin","doi":"10.1177/20406223251361677","DOIUrl":"10.1177/20406223251361677","url":null,"abstract":"<p><p>Microcurrent (MIC) therapy is a non-invasive, low-intensive electrical modality that remains underutilized despite evidence supporting its therapeutic potential. With applications in chronic pain, wound healing, musculoskeletal injuries, deconditioning, and neuropsychological conditions, MIC offers a pain-free alternative to traditional electrotherapies. This narrative review compiles the current literature on MIC therapy, highlighting its physiological mechanisms, such as promoting cellular repair, modulating inflammation, and reducing pain, without inducing discomfort or muscle fatigue. Though more high-quality evidence is needed, this review examines the current evidence on MIC's role in managing chronic and complex conditions across diverse healthcare environments and patient populations.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251361677"},"PeriodicalIF":2.8,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endoscopic treatment as secondary prophylaxis ameliorates short-term mortality for acute esophagogastric variceal bleeding in older patients with cirrhotic hepatocellular carcinoma.","authors":"Qi Li, Ruifeng Liu, Shenghui Zhou, Lingna Lyu, Chunlei Fan, Huiguo Ding","doi":"10.1177/20406223251356824","DOIUrl":"10.1177/20406223251356824","url":null,"abstract":"<p><strong>Background: </strong>Acute esophagogastric variceal bleeding (AEGVB) is a common complication of liver cirrhosis and hepatocellular carcinoma (HCC). It is unclear if older patients with cirrhotic HCC benefit from endoscopic treatment as secondary prophylaxis for AEGVB in short term.</p><p><strong>Objectives: </strong>We aim to investigate if endoscopic treatment as secondary prophylaxis for AEGVB reduces short-term mortality in older patients with cirrhotic HCC.</p><p><strong>Design: </strong>We retrospectively enrolled 138 consecutive patients over 60 years old with cirrhotic HCC and AEGVB from April 1, 2021 through December 31, 2022 in Emergency Room, Beijing You'an Hospital, Capital Medical University.</p><p><strong>Methods: </strong>A 1:1 propensity score matching (PSM) analysis was performed to adjust for confounding factors such as age, gender, Child-Pugh score in our statistical findings. Logistic regression and Cox regression analyses were used to investigate whether there was a significant negative association between endoscopic treatment and short-term mortality for AEGVB in older patients with cirrhotic HCC. Kaplan-Meier methodology was employed to compare overall survival over 6 weeks between the endoscopic treatment group and non-endoscopic treatment group.</p><p><strong>Results: </strong>In older patients with cirrhotic HCC and AEGVB, in-hospital mortality and 6-week mortality were significantly lower in the endoscopic treatment group compared to the non-endoscopic treatment group before PSM (5.33% vs 26.98%, <i>p</i> = 0.001 for in-hospital mortality; 12.00% vs 44.44%; <i>p</i> < 0.001 for 6-week mortality). These results remained consistent after PSM (4.76% vs 26.98%, <i>p</i> = 0.002 for in-hospital mortality; 9.52% vs 44.44%; <i>p</i> < 0.001 for 6-week mortality). Both logistic regression and Cox regression analyses found that endoscopic treatment contributed to reduced short-term mortality for AEGVB in older patients with cirrhotic HCC. Kaplan-Meier survival curves indicated that older patients undergoing endoscopic treatment had a higher short-term survival rate than those who didn't receive endoscopic treatment in our cohort. However, there was no significant difference in short-term survival between patients receiving endoscopic variceal ligation and those treated with endoscopic injection sclerotherapy.</p><p><strong>Conclusion: </strong>Secondary prophylaxis of endoscopic treatment helps to reduce 6-week mortality for AEGVB in older patients with cirrhotic HCC. Therefore, endoscopic treatment is suggested to be employed as secondary prophylaxis in this special population in clinical practice.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251356824"},"PeriodicalIF":2.8,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.","authors":"Elizabeth M McCormick, James T Peterson, Joaquim Diego D Santos, Jean Flickinger, Rui Xiao, Richard Haas, Zarazuela Zolkipli-Cunningham","doi":"10.1177/20406223251344763","DOIUrl":"10.1177/20406223251344763","url":null,"abstract":"<p><strong>Background: </strong>The impact of Mitochondrial Myopathy (MM) symptoms on functional ability across activities of daily living (ADLs) has not been fully characterized, nor is it understood how MM patients define their key symptoms. Furthermore, it is unclear what MM individuals perceive as a clinically meaningful improvement.</p><p><strong>Objective: </strong>We sought to characterize how MM patients feel about their symptoms in the key MM domains of muscle weakness, muscle fatigue, exercise intolerance, imbalance, and peripheral neuropathy; as well as their functional ability.</p><p><strong>Design: </strong>We conducted a single-center, observational, qualitative study that involved standardized structured and semi-structured patient interviews.</p><p><strong>Methods: </strong>Most interview questions were open-ended, allowing individuals to provide personalized narratives that were transcribed in real time. A total of 33 individuals with MM were interviewed either in-person or remotely. Interview transcripts underwent thematic analysis in accordance with grounded theory. Data was presented using a mixed-methods approach.</p><p><strong>Results: </strong>Subjects provided extensive narratives that demonstrated the substantial and widespread impact of MM across many aspects of MM patient lives, including the impact of each MM domain of muscle weakness, muscle fatigue, exercise intolerance, imbalance, and peripheral neuropathy on ADLs; the need to adapt to preserve independence and quality of life (QOL); impaired self-perception, participation in social activities, hobbies, and relationships; and change in circumstances over time.</p><p><strong>Conclusion: </strong>These meaningful insights highlight the critical and emergent need for approved drug treatment(s) in this profoundly burdened patient population. Our results will serve as a comprehensive resource to inform the physician, patient, industry and advocacy communities on outcome measure selection and clinical trial design; and to help inform regulatory agencies in the United States Food and Drug Administration (FDA) drug approval process for MM.</p>","PeriodicalId":22960,"journal":{"name":"Therapeutic Advances in Chronic Disease","volume":"16 ","pages":"20406223251344763"},"PeriodicalIF":2.8,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12304646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}