Communications medicine最新文献

{"title":"Inclusiveness of the All of Us Research Program improves polygenic risk scores and fosters genomic medicine for all","authors":"Benson R. Kidenya, Gerald Mboowa","doi":"10.1038/s43856-024-00647-z","DOIUrl":"10.1038/s43856-024-00647-z","url":null,"abstract":"Polygenic risk scores (PRS) show promise but have accuracy disparities across ancestries due to underrepresentation in the existing genomic databases. Here, we outline the initiative of All of Us Research Program in refining PRS and advancing genomic medicine for all. Kidenya and Mboowa discuss the current state of genomic inclusiveness in medicine. They champion the efforts of the All of Us Research Program to broaden diversity in population genomics and reduce disparities across different ancestries.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s43856-024-00647-z.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142595722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recommendations for the equitable integration of digital health interventions across the HIV care cascade","authors":"Megi Gogishvili, Anish K. Arora, Trenton M. White, Jeffrey V. Lazarus","doi":"10.1038/s43856-024-00645-1","DOIUrl":"10.1038/s43856-024-00645-1","url":null,"abstract":"Digital health interventions (DHIs) are being increasingly adopted to improve care outcomes and experiences for people living with HIV (PLHIV). Here, we highlight the importance of DHIs in the context of HIV management and recommendations for their equitable integration in the HIV care cascade. Gogishvili et al highlight the crucial role of digital health interventions (DHIs) in improving HIV care outcomes and experiences. They provide recommendations for the equitable integration of DHIs in the HIV care cascade, emphasizing the need to address the digital divide to ensure inclusive access to healthcare.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s43856-024-00645-1.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Access to radiotherapy in improving gastric cancer care quality and equality","authors":"Minmin Wang, Kepei Huang, Xiaohan Fan, Jia Wang, Yinzi Jin, Zhi-Jie Zheng","doi":"10.1038/s43856-024-00655-z","DOIUrl":"10.1038/s43856-024-00655-z","url":null,"abstract":"Quality health services could improve patient outcomes and prognosis. Gastric cancer care was of great disparity across genders. Disparities within radiotherapy units could impact gastric cancer care, potentially exacerbating gender-based inequalities. We retrieved the disease burden data from Global Burden of Disease 2019. A quality of care index was constructed by applying principal component analysis techniques. The disparity of gastric cancer care across genders was described, and the association of access to radiotherapy with gastric cancer care as well as gender disparity was explored. Males receive better quality of gastric cancer care than females, and this gender disparity is widening in middle-low socio-development regions. A positive correlation emerges between the density of radiotherapy facilities and an elevated quality of care, and reduced gender-based disparities. The association between robust radiotherapy access, improved gastric cancer QCI, and reduced gender-based disparities spotlights the imperative of fortifying radiotherapy infrastructure within areas and populations in greatest need. Gastric cancer is a prevalent disease which ranked fifth for incidence and fourth for mortality among all cancer types globally. Great differences in the quality of gastric cancer care have been reported across regions, countries and genders. Accessibility to essential treatment, especially radiotherapy units used in treatment, could impact the quality of gastric cancer care. We studied the role of health technologies in promoting gastric cancer care quality and equality. Our results identified an association between radiotherapy access and improved quality of gastric cancer care and reduced gender-based disparities. Results of this study highlighted the importance of increasing access to radiotherapy treatment in improving global health equality. Wang et al. constructed an index reflecting the quality of global gastric cancer care. They identified an association between robust radiotherapy access, improved gastric cancer QCI, and reduced gender-based disparities, and spotlighted the importance of fortifying radiotherapy infrastructure within areas and populations of greatest need.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s43856-024-00655-z.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iroquois homeobox 4 (IRX4) derived micropeptide promotes prostate cancer progression and chemoresistance through Wnt signalling dysregulation","authors":"Achala Fernando, Chamikara Liyanage, Srilakshmi Srinivasan, Janaththani Panchadsaram, Joseph A. Rothnagel, Judith Clements, Jyotsna Batra","doi":"10.1038/s43856-024-00613-9","DOIUrl":"10.1038/s43856-024-00613-9","url":null,"abstract":"Prostate cancer (PCa) is a commonly diagnosed cancer. Genome-wide association studies have implicated Iroquois homeobox 4 (IRX4) in PCa susceptibility, yet its functional roles remain unclear. We discovered a 78-amino acid micropeptide (miPEP, IRX4_PEP1), encoded from the alternative start site within the IRX4 gene. The miPEPs, encoded through short open reading frames (sORFs) have emerged as regulators of diverse biological processes. However, the significance of miPEPs in prostate tumorigenesis and therapy response remains unexplored to date. Here, we demonstrated the unique role of IRX4_PEP1 in PCa. The role of IRX4_PEP1 was evaluated in PCa in vitro via functional assays and comprehensive pathway analysis. The interacting partners of IRX4_PEP1 were identified using an immunoprecipitation assay, and the impact of IRX4_PEP1 on PCa stem cells was assessed through a stem cell enrichment assay. Additionally, the expression of IRX4_PEP1 was evaluated in PCa patient samples for its potential diagnostic and prognostic significance. Here we show IRX4_PEP1 promotes PCa cell proliferation, migration, and invasion by interacting with heterogeneous nuclear ribonucleoprotein K (HNRPK). Notably, IRX4_PEP1 dysregulates Wnt signalling by interacting with Catenin beta 1 (β catenin; CTNB1), elevating PCa stemness markers, and fostering docetaxel resistance. Clinically, IRX4_PEP1 expression is elevated in PCa tissues and correlates positively with disease aggressiveness. CTNNB1, HNRNPK levels, and ssGSEA enrichment score of WNT/CTNB1 signalling correlate positively with IRX4_PEP1 in PCa tissues. These findings highlight IRX4_PEP1 role in PCa stemness and chemoresistance, suggesting it as a therapeutic target and potential diagnostic marker. Prostate cancer (PCa) is a common cancer in men. Our early research identified a small protein, IRX4_PEP1, derived from the Iroquois homeobox 4 (IRX4) gene. The function of this protein was characterised through several assays using PCa cells and PCa stem cells. Our results show that IRX4_PEP1 helps PCa cells to grow and resist treatment by interacting with CTNB1 and HNRPK proteins, affecting the Wnt signalling pathway. Moreover, IRX4_PEP1 increased PCa stem cells and stem cell markers associated with PCa. IRX4_PEP1 levels are higher in PCa tissues and relate to more aggressive disease. This makes IRX4_PEP1 a potential target for PCa treatments and a marker for diagnosis. Fernando et al. investigate a micropeptide encoded in the Iroquois homeobox 4 (IRX4) gene for expression patterns and signalling effects. Their findings suggest it could serve as a therapeutic target and potential diagnostic marker in prostate cancer.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11530646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regional mechanical dyssynchrony and shortened systole are present in people with Takotsubo syndrome","authors":"Jan-Christian Reil, Vasco Sequeira, Gert-Hinrich Reil, Paul Steendijk, Christoph Maack, Thomas Fink, Elias Rawish, Ingo Eitel, Thomas Stiermaier","doi":"10.1038/s43856-024-00641-5","DOIUrl":"10.1038/s43856-024-00641-5","url":null,"abstract":"Takotsubo syndrome is characterized by transient regional systolic dysfunction, left ventricular (LV) dilatation, and edema, often occurring without obstructive coronary artery disease. The mechanisms underlying this stress-induced condition, especially the role of mechanical dyssynchrony in affecting systolic function, remain poorly understood. In our study, we evaluated global LV function and mechanical dyssynchrony in 24 Takotsubo patients compared to 20 controls by analyzing pressure-volume loops and time-varying elastance. Additionally, we monitored changes in LV segmental volume and internal flow. Here we show a significant reduction in global myocardial contractility and pronounced mechanical dyssynchrony in Takotsubo syndrome, particularly in the mid and apical LV segments, without disturbances in electrical conduction. Our findings reveal substantial mechanical dyssynchrony in Takotsubo patients, characterized by increased internal flow and a shortened systolic ejection time. This indicates a mechanical basis for the inefficient LV function in Takotsubo syndrome, independent of electrical conduction abnormalities. People with Takotsubo syndrome have temporarily weakened heart muscle, and this is often triggered by emotional or physical stress. We compared the heart pressure and volume between people with Takotsubo syndrome and healthy individuals. Our findings showed that people with Takotsubo syndrome have weaker heart muscles and irregular contractions, especially in the middle and tip of the heart, despite having normal electrical signals. This means that their hearts are less efficient at pumping blood. This study provides additional details about the impact of Takotsubo syndrome on heart function. Improved understanding of these issues could lead to better diagnosis and treatment for people with this condition in the future. Reil, Sequeira et al. investigate the role of mechanical dyssynchrony in Takotsubo Syndrome, revealing significant segmental dysfunction in the left ventricle. Their findings highlight the mechanical inefficiencies and reduced systolic function in Takotsubo patients, independent of electrical conduction abnormalities.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11530451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of sleep patterns in dementia and general population cohorts using passive in-home monitoring technologies","authors":"Louise Rigny, Nan Fletcher-Lloyd, Alex Capstick, Ramin Nilforooshan, Payam Barnaghi","doi":"10.1038/s43856-024-00646-0","DOIUrl":"10.1038/s43856-024-00646-0","url":null,"abstract":"Nocturnal disturbances are a common symptom experienced by People Living with Dementia (PLWD), and these often present prior to diagnosis. Whilst sleep anomalies have been frequently reported, most studies have been conducted in lab environments, which are expensive, invasive and not natural sleeping environments. In this study, we investigate the use of in-home nocturnal monitoring technologies, which enable passive data collection, at low cost, in real-world environments, and without requiring a change in routine. Clustering analysis of passively collected sleep data in the natural sleep environment can help identify distinct sub-groups based on sleep patterns. The analysis uses sleep activity data from; (1) the Minder study, collecting in-home data from PLWD and (2) a general population dataset (combined n = 100, >9500 person-nights). Unsupervised clustering and profiling analysis identifies three distinct clusters. One cluster is predominantly PLWD relative to the two other groups (72% ± 3.22, p = 6.4 × 10−7, p = 1.2 × 10−2) and has the highest mean age (77.96 ± 0.93, p = 6.8 × 10−4 and p = 6.4 × 10−7). This cluster is defined by increases in light and wake after sleep onset (p = 1.5 × 10−22, p = 1.4 × 10−7 and p = 1.7 × 10−22, p = 1.4 × 10−23) and decreases in rapid eye movement (p = 5.5 × 10−12, p = 5.9 × 10−7) and non-rapid eye movement sleep duration (p = 1.7 × 10−4, p = 3.8 × 10−11), in comparison to the general population. In line with current clinical knowledge, these results suggest detectable dementia sleep phenotypes, highlighting the potential for using passive digital technologies in PLWD, and for  detecting architectural sleep changes more generally. This study indicates the feasibility of leveraging passive in-home technologies for disease monitoring. Rigny et al. evaluate passive in-home nocturnal monitoring in real-world settings to identify distinct sleep pattern sub-groups between people living with dementia and the general population. The feasibility of using these technologies for screening dementia-related sleep signatures and monitoring broader sleep changes is demonstrated. People living with dementia commonly sleep poorly at night, and this often occurs before they are diagnosed with dementia. We investigated whether a sleep sensor placed under a person’s mattress could monitor sleep activity in people with dementia without disrupting their normal daily routines and behaviour. We compared sleep data collected from both people with dementia and the general population to identify whether differences could be detected. We found identifiable dementia-related sleep patterns, suggesting sleep sensors could be used both to monitor disease and more generally in research. In the future, using these types of sensors could enable better care for people living with dementia by monitoring their sleep.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142559624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Field cycling imaging to characterise breast cancer at low and ultra-low magnetic fields below 0.2 T","authors":"Vasiliki Mallikourti, P. James Ross, Oliver Maier, Katie Hanna, Ehab Husain, Gareth R. Davies, David J. Lurie, Gerald Lip, Hana Lahrech, Yazan Masannat, Lionel M. Broche","doi":"10.1038/s43856-024-00644-2","DOIUrl":"10.1038/s43856-024-00644-2","url":null,"abstract":"This prospective feasibility study explores Field-Cycling Imaging (FCI), a new MRI technology that measures the longitudinal relaxation time across a range of low magnetic field strengths, providing additional information about the molecular properties of tissues. This study aims to assess the performance of FCI and investigate new quantitative biomarkers at low fields within the context of breast cancer. We conducted a study involving 9 people living with breast cancer (10 tumours in total, mean age, 54 ± 10 years). FCI images were obtained at four magnetic field strengths (2.3 mT to 200 mT). FCI images were processed to generate T1 maps and 1/T1 dispersion profiles from regions of tumour, normal adipose tissue, and glandular tissue. The dispersion profiles were subsequently fitted using a power law model. Statistical analysis focused on comparing potential FCI biomarkers using a Mann-Whitney U or Wilcoxon signed rank test. We show that low magnetic fields clearly differentiate tumours from adipose and glandular tissues without contrast agents, particularly at 22 mT (1/T1, median [IQR]: 6.8 [3.9–7.8] s−1 vs 9.1 [8.9–10.2] s−1 vs 8.1 [6.2–9.2] s−1, P < 0.01), where the tumour-to-background contrast ratio was highest (62%). Additionally, 1/T1 dispersion indicated a potential to discriminate invasive from non-invasive cancers (median [IQR]: 0.05 [0.03–0.09] vs 0.19 [0.09–0.26], P = 0.038). To the best of our knowledge, we described the first application of in vivo FCI in breast cancer, demonstrating relevant biomarkers that could complement diagnosis of current imaging modalities, non-invasively and without contrast agents. Field cycling imaging (FCI) is a new medical imaging technique that uses low and variable magnetic fields to provide information on tissue properties that cannot be obtained by other medical imaging technologies. This study aimed at finding new types of signals from FCI images to better detect and characterise breast cancer. We acquired FCI images from people living with breast cancer at four different field strengths to demonstrate that low magnetic fields enable the detection of breast cancers without the need for potentially hazardous contrast agents unlike MRI systems. Additionally, we showed that the FCI technology has the potential to provide insights into tumour invasiveness, which is not visible with current imaging modalities. These findings suggest that FCI could complement existing clinical imaging techniques to improve the diagnosis of breast cancer. Mallikourti et al. assess whether breast cancer can be detected at low magnetic fields ranging from 2.3 mT to 200 mT using endogenous T1 contrast, thereby eliminating the need for contrast agents. They show this method of field cycling imaging can differentiate invasive from non-invasive breast tumours in people with breast cancer.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical validation of peripheral blood mononuclear cell DNA methylation markers for accurate early detection of hepatocellular carcinoma in Asian patients","authors":"David Cheishvili, Chifat Wong, Mohammad Mahbubul Karim, Mohammad Golam Kibria, Nusrat Jahan, Pappu Chandra Das, Abul Khair Yousuf, Atikul Islam, Dulal Chandra Das, Sheikh Mohammad Noor-E-Alam, Sarwar Alam, Mustafizur Rahman, Wasif A. Khan, Mamun Al-Mahtab, Moshe Szyf","doi":"10.1038/s43856-024-00652-2","DOIUrl":"10.1038/s43856-024-00652-2","url":null,"abstract":"Hepatocellular carcinoma (HCC), a leading cause of cancer-related deaths globally, poses significant challenges in early detection. Improved diagnostic accuracy can drastically influence patient outcomes, emphasizing the need for innovative, non-invasive biomarkers. This study utilized a cohort of 402 participants, including healthy controls, chronic hepatitis patients, and HCC patients from Bangladesh, to evaluate DNA methylation signatures in peripheral blood mononuclear cells (PBMC). We performed targeted next-generation sequencing on selected genes previously identified to assess their methylation dynamics. The development of M8 and M4 scores was based on these dynamics, using Receiver Operating Characteristic (ROC) analysis to determine their effectiveness in detecting early-stage HCC alongside existing markers such as epiLiver and alpha-fetoprotein (AFP). Integration of M8 and M4 scores with epiLiver and AFP significantly enhances diagnostic sensitivity for early-stage HCC. The M4+epiLiver score achieves a sensitivity of 79.4% in Stage A HCC, while combining M4 with AFP increases sensitivity to 88.2–95.7% across all stages, indicating a superior diagnostic performance compared to each marker used alone. Our study confirms that combining gene methylation profiles with established diagnostic markers substantially improves the sensitivity of detecting early-stage HCC. This integrated diagnostic approach holds promise for advancing non-invasive cancer diagnostics, potentially leading to earlier treatment interventions and improved survival rates for high-risk patients. Cheishvili et al. investigate the use of DNA methylation markers in peripheral blood mononuclear cells for early detection of hepatocellular carcinoma in an Asian cohort. The study demonstrates that these biomarkers can accurately distinguish between healthy controls and patients across different stages of the disease. Liver cancer is one of the top causes of cancer death worldwide, and finding it early is crucial for successful treatment. This research focuses on using a simple blood test to look for specific DNA changes that signal the early stages of liver cancer. We tested this method on a diverse group of people from Bangladesh, including those already at high risk for liver cancer due to chronic liver infections. By combining this new blood test with other existing tests, we were able to detect liver cancer more accurately and earlier than by using traditional methods alone. This approach could make it easier and less invasive to find liver cancer early, offering a better chance for effective treatment and a hopeful prognosis for those at risk.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11522327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disparities in steatosis prevalence in the United States by Race or Ethnicity according to the 2023 criteria","authors":"Luis Antonio Díaz, Jeffrey V. Lazarus, Eduardo Fuentes-López, Francisco Idalsoaga, Gustavo Ayares, Hailemichael Desaleng, Pojsakorn Danpanichkul, Thomas G. Cotter, Winston Dunn, Francisco Barrera, Karn Wijarnpreecha, Mazen Noureddin, Naim Alkhouri, Ashwani K. Singal, Robert J. Wong, Zobair M. Younossi, Mary E. Rinella, Patrick S. Kamath, Ramon Bataller, Rohit Loomba, Marco Arrese, Juan Pablo Arab","doi":"10.1038/s43856-024-00649-x","DOIUrl":"10.1038/s43856-024-00649-x","url":null,"abstract":"The 2023 nomenclature defined criteria for steatotic liver disease (SLD), including metabolic dysfunction-associated SLD (MASLD), alcohol-associated liver disease (ALD), and the overlapping MASLD/ALD (MetALD). We aimed to assess racial and ethnic disparities in the SLD prevalence among United States (US) adults based on this new nomenclature. We undertook a cross-sectional study employing the 2017–2018 National Health and Nutrition Examination Survey (NHANES) database. We identified SLD according to a controlled attenuation parameter ≥288 dB/m, liver stiffness ≥7.2 kPa, or elevated aminotransferase levels. Alcohol use thresholds were established according to the updated SLD definition. We estimated prevalences using the complex design of the NHANES survey. Multivariable logistic regressions with complex design weights were employed. A total of 5532 individuals are included. The mean age is 45.4 years, and 50.9% are women. The adjusted estimated prevalence of MASLD is 42.4% (95% CI: 41.1–43.8%), MetALD 1.7% (95% CI: 1.3–2.0%), and ALD 0.6% (95% CI: 0.3–0.8%). Hispanics exhibit a higher prevalence of SLD, but there are no significant differences in advanced fibrosis prevalence due to SLD among racial/ethnic groups. In MASLD, men, individuals aged 40–64 and ≥65 years, Hispanics, those with health insurance, higher BMI, diabetes, hypertension, hypertriglyceridemia, and low high-density lipoprotein (HDL) cholesterol or use of lipid-lowering agents are independently associated with a higher risk, while Blacks have the lowest risk. In MetALD, men and higher BMI are independently associated with a higher risk of MetALD in adjusted multivariable analysis. In ALD, the adjusted multivariable analysis shows that only health insurance is independently associated with a lower ALD risk. MASLD prevalence is high in the US, especially in men, older individuals, and Hispanics. MetALD and ALD prevalence was substantial but could be underestimated. This study aims to estimate the prevalence of different types of fatty liver disease, in which excess fat occurs in the liver. A particular type of fatty liver disease that is not caused by excess alcohol consumption affects 42.4% of adults in the USA, with men, older adults, and Hispanics being more likely to have this form of liver disease. People with health insurance are less likely to have liver disease caused by excess alcohol consumption. These results highlight the importance of targeted prevention efforts in people with a higher risk of developing liver disease. Future public health strategies should focus on reducing risk factors and providing equitable healthcare access. Díaz et al. estimate the prevalence of steatotic liver disease (SLD) in adults in the United States. Increased waist circumference, excess weight, abnormal glucose metabolism, and hypertension are associated with a higher risk of advanced fibrosis in SLD, with sex, hispanic ethnicity and lack of health insurance associated with certain types.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11522458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich’s Ataxia","authors":"Ram Kinker Mishra, Adonay S. Nunes, Ana Enriquez, Victoria R. Profeta, McKenzie Wells, David R. Lynch, Ashkan Vaziri","doi":"10.1038/s43856-024-00653-1","DOIUrl":"10.1038/s43856-024-00653-1","url":null,"abstract":"Friedreich ataxia (FRDA) results in progressive impairment in gait, upper extremity coordination, and speech. Currently, these symptoms are assessed through expert examination at clinical visits. Such in-clinic assessments are time-consuming, subjective, of limited sensitivity, and provide only a limited perspective of the daily disability of patients. In this study, we recruited 39 FRDA patients and remotely monitored their physical activity and upper extremity function using a set of wearable sensors for 7 consecutive days. We compared the sensor-derived metrics of lower and upper extremity function as measured during activities of daily living with FRDA clinical measures (e.g., mFARS and FA-ADL) and biological biomarkers of disease severity (guanine-adenine-adenine (GAA) and frataxin (FXN) levels), using Spearman correlation analyses. The results show significant correlations with moderate to high effect sizes between multiple sensor-derived metrics and the FRDA clinical and biological outcomes. In addition, we develop multiple machine learning-based models to predict disease severity in FRDA using demographic, biological, and sensor-derived metrics. When sensor-derived metrics are included, the model performance enhances 1.5-fold and 2-fold in terms of explained variance, R², for predicting FRDA clinical measures and biological biomarkers of disease severity, respectively. Our results establish the initial clinical validity of using wearable sensors in assessing disease severity and monitoring motor dysfunction in FRDA. Friedreich ataxia (FRDA) is a condition that impairs movement and coordination. Current clinical assessments are subjective, highlighting the need for better ways to monitor disease severity. By using wearable devices to track symptoms in everyday life, we can gain better insights into how patients function outside the clinical environment, offering a more comprehensive understanding of the disease’s impact. In this study, 39 patients were observed using wearable sensors for a week to track their physical activity and arm movements. The data collected was compared with traditional clinical tests and biological markers of the disease. The findings demonstrate that wearable sensors can accurately predict disease severity, offering continuous real-world monitoring that could enhance patient care and treatment outcomes. Mishra, Nunes et al. monitor the physical activity and upper limb function of 39 people with Friedreich ataxia (FRDA) using wearable sensors over 7 days. The results demonstrate that incorporating sensor data significantly enhances predictive models of disease severity, offering a comprehensive approach to assessing and monitoring FRDA.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}