Arun R. Sridhar, Jim W. Cheung, Rachel Lampert, Jennifer N. A. Silva, Rakesh Gopinathannair, Juan C. Sotomonte, Khaldoun Tarakji, Mark Fellman, Jonathan Chrispin, Niraj Varma, Rajesh Kabra, Nishaki Mehta, Sana M Al-Khatib, Jacob J. Mayfield, Rachita Navara, Bharath Rajagopalan, Rod Passman, Yann Fleureau, Maully J Shah, Mintu Turakhia, Dhanunjaya Lakkireddy
{"title":"State of the art of mobile health technologies use in clinical arrhythmia care","authors":"Arun R. Sridhar, Jim W. Cheung, Rachel Lampert, Jennifer N. A. Silva, Rakesh Gopinathannair, Juan C. Sotomonte, Khaldoun Tarakji, Mark Fellman, Jonathan Chrispin, Niraj Varma, Rajesh Kabra, Nishaki Mehta, Sana M Al-Khatib, Jacob J. Mayfield, Rachita Navara, Bharath Rajagopalan, Rod Passman, Yann Fleureau, Maully J Shah, Mintu Turakhia, Dhanunjaya Lakkireddy","doi":"10.1038/s43856-024-00618-4","DOIUrl":"10.1038/s43856-024-00618-4","url":null,"abstract":"The rapid growth in consumer-facing mobile and sensor technologies has created tremendous opportunities for patient-driven personalized health management. The diagnosis and management of cardiac arrhythmias are particularly well suited to benefit from these easily accessible consumer health technologies. In particular, smartphone-based and wrist-worn wearable electrocardiogram (ECG) and photoplethysmography (PPG) technology can facilitate relatively inexpensive, long-term rhythm monitoring. Here we review the practical utility of the currently available and emerging mobile health technologies relevant to cardiac arrhythmia care. We discuss the applications of these tools, which vary with respect to diagnostic performance, target populations, and indications. We also highlight that requirements for successful integration into clinical practice require adaptations to regulatory approval, data management, electronic medical record integration, quality oversight, and efforts to minimize the additional burden to health care professionals. Sridhar et al. review the opportunities that mobile health technologies offer to improve the care of patients with cardiac arrhythmias. The current status, challenges, and future opportunities to use these technologies to predict, screen, diagnose, and manage of cardiac arrhythmias are highlighted.","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/PMC11522556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549300","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}
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz
{"title":"Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model","authors":"Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz","doi":"10.1038/s43856-024-00648-y","DOIUrl":"10.1038/s43856-024-00648-y","url":null,"abstract":"Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a formylglycine-generating enzyme (FGE) that activates 17 different sulfatases. MSD patients show common features of other lysosomal diseases like mucopolysaccharidosis and metachromatic leukodystrophy, including neurologic impairments, developmental delay, and visceromegaly. There are currently no approved therapies for MSD patients. Hematopoietic stem cell transplant (HSCT) has been applied with success in the treatment of certain lysosomal diseases. In HSCT, donor-derived myeloid cells are a continuous source of active sulfatase enzymes that can be taken up by sulfatase-deficient host cells. Thus, HSCT could be a potential approach for the treatment of MSD. To test this hypothesis, we used a clinically relevant mouse model for MSD, B6-Sumf1(S153P/S153P) mice, engrafted with bone marrow cells, Sumf1+/+, from B6-PtprcK302E mice (CD45.1 immunoreactive). After 10 months post-transplant, flow cytometric analysis shows an average of 90% of circulating leukocytes of donor origin (Sumf1(+/+)). Enzymatic activity for ARSA, ARSB, and SGSH is significantly increased in spleen of B6-Sumf1(S153P/S153P) recipient mice. In non-lymphoid organs, only liver and heart show a significant correction of sulfatase activity and GAG accumulation. Frequency of inflammatory cells and lysosomal pathology is significantly reduced in liver and heart, while no significant improvement is detected in brain. Our results indicate that HSCT could be a suitable approach to treat MSD-pathology affecting peripheral organs, however that benefit to CNS pathology might be limited. Multiple Sulfatase Deficiency (MSD) is a rare genetic disorder caused by loss-of-function variations in the SUMF1 gene. This deficiency results in the accumulation of toxic compounds, leading to developmental delays and neurological impairments. In a bone marrow transplant (BMT), donor cells are infused into the patient and secrete active proteins that can help remove those toxic compounds. We carried out BMT in a mouse model for MSD and saw beneficial effects on peripheral organs, such as the liver and heart, but less change in neurological symptoms. Our results will be useful for the design of potential cell therapy approaches that could be used clinically to treat MSD. Presa et al. use a mouse model of multiple sulfatase deficiency (MSD) to assess efficacy of bone marrow transplantation to increase sulfatase activity. Sulfatase activity is partially restored in some peripheral tissues such as spleen, liver and heart, but no significant benefit is observed in the brain.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514027","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}
Allan Kalungi, Dan J. Stein, Niran Okewole, Segun Fatumo
{"title":"Approaches to enable equitable psychiatric genetic research in Africa","authors":"Allan Kalungi, Dan J. Stein, Niran Okewole, Segun Fatumo","doi":"10.1038/s43856-024-00639-z","DOIUrl":"10.1038/s43856-024-00639-z","url":null,"abstract":"African populations are currently underrepresented in global psychiatric genetics research. Here, we highlight the importance of conducting psychiatric genetics research in Africa, key issues which have hindered such research, and ongoing initiatives and strategies to overcome these issues. Kalungi et al. highlight the underrepresentation of African populations in psychiatric genetic research. They advocate for strategic investments, capacity building, and collaboration to empower African scientists and institutions, emphasizing community engagement and ethical considerations for robust and culturally sensitive research in Africa.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11511995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514026","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}
George Clarke, Jingwen Mao, Angus Hann, Yiyu Fan, Amita Gupta, Anisa Nutu, Erwin Buckel Schaffner, Kayani Kayani, Nicholas Murphy, Mansoor N. Bangash, Anna L. Casey, Isla Wootton, Alexander J. Lawson, Bobby V. M. Dasari, M. Thamara P. R. Perera, Hynek Mergental, Simon C. Afford
{"title":"A reproducible extended ex-vivo normothermic machine liver perfusion protocol utilising improved nutrition and targeted vascular flows","authors":"George Clarke, Jingwen Mao, Angus Hann, Yiyu Fan, Amita Gupta, Anisa Nutu, Erwin Buckel Schaffner, Kayani Kayani, Nicholas Murphy, Mansoor N. Bangash, Anna L. Casey, Isla Wootton, Alexander J. Lawson, Bobby V. M. Dasari, M. Thamara P. R. Perera, Hynek Mergental, Simon C. Afford","doi":"10.1038/s43856-024-00636-2","DOIUrl":"10.1038/s43856-024-00636-2","url":null,"abstract":"Normothermic machine perfusion of donor livers has become standard practice in the field of transplantation, allowing the assessment of organs and safe extension of preservation times. Alongside its clinical uses, there has been expanding interest in extended normothermic machine perfusion (eNMP) of livers as a potential vehicle for medical research. Reproducible extended normothermic machine perfusion has remained elusive due to its increased complexity and monitoring requirements. We set out to develop a reproducible protocol for the extended normothermic machine perfusion of whole human livers. Human livers declined for transplantation were perfused using a blood-based perfusate at 36 °C using the Liver Assist device (XVIVO, Sweden), with continuous veno-venous haemofiltration in-parallel. We developed the protocol in a stepwise fashion. Perfusion techniques utilised included: targeted physiological vascular flows, phosphate replacement (to prevent hypophosphataemia), N-acetylcysteine (to prevent methaemoglobin accumulation), and the utilisation of sodium lactate as both a nutritional source and real-time measure of hepatocyte function. All five human livers perfused with the developed protocol showed preserved function with a median perfusion time of 168 h (range 120–184 h), with preserved viability throughout. Livers can be reproducibly perfused in excess of 120 (range 121–184) hours with evidence of preserved hepatocyte and cholangiocyte function. Clarke et al. present a reproducible protocol for the extended normothermic machine perfusion of human livers. Function and are preserved in five human livers perfused between 121–184 h. Circulating blood through human livers at normal body temperature allows transplant surgeons to assess the function of the liver and safely extend the time it is out of the body prior to transplantation. Extending this perfusion of livers beyond 24 h has proven difficult. We evaluated improved techniques to circulate blood through the liver. We found the improved techniques could enable a machine to be used to reliably perfuse livers for more than 24 h, whilst preserving the function of the liver. Our improved method included varying the blood flow according to liver size and removing waste products from the circulating blood. Using our method could enable more livers to be used successfully in transplant operations, reducing the waiting times for people requiring liver transplantation and improving their quality of life.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142516777","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}
Shihui Jin, Alex R. Cook, Robert Kanwagi, Heidi J. Larson, Leesa Lin
{"title":"Comparing role of religion in perception of the COVID-19 vaccines in Africa and Asia Pacific","authors":"Shihui Jin, Alex R. Cook, Robert Kanwagi, Heidi J. Larson, Leesa Lin","doi":"10.1038/s43856-024-00628-2","DOIUrl":"10.1038/s43856-024-00628-2","url":null,"abstract":"In the midst of the global COVID-19 vaccine distribution challenge, religion stands out as a key determinant of vaccine hesitancy and health choices. Notably, the multifaceted religious environments of Africa and the Asia Pacific remain under-researched in this context. Utilizing data from two survey waves conducted between 2021 and 2022, this cross-sectional study investigated the effects of religious beliefs on perceptions of compatibility between religion and vaccines and COVID-19 vaccine acceptance in Africa and Asia Pacific. Logistic regression models were employed, with interaction terms between socio-economic factors incorporated to account for variations among diverse subpopulations. Among the eight religious groups identified, Atheists and Buddhists in the Asia Pacific exhibit the lowest agreement, with fewer than 60% acknowledging the religious compatibility of vaccines. Willingness to accept vaccines, however, is consistently higher in Asia Pacific by at least four percentage points compared to Africa, with the disparity widening further in the second wave. Impacts of education on vaccine perceptions vary across religious groups, while acknowledging vaccine compatibility with religion positively contributed to vaccine acceptance. Dynamics between region, religion, and other socio-demographic factors have changed substantially over time. All but Atheists and Muslims exhibit a higher propensity to endorse vaccines during Survey Wave 2. Our study reveals complex, context-dependent connections between vaccine attitudes and religion and the heterogeneous effects of time and education among different religious affiliations. Understanding the underlying drivers of these temporal variations helps inform tailored approaches aimed at addressing vaccine hesitancy, promoting vaccine uptake, and improving the well-being of each religious group. This study examined the effects of religious beliefs on thoughts about agreement between religion and vaccines, and COVID-19 vaccine acceptance in Africa and Asia Pacific. Data came from surveys of individuals across many regions during the COVID-19 pandemic in 2021 and 2022. We found lower agreement to compatibility between vaccine and religious belief among Atheists and Buddhists in the Asia Pacific, while Africans were generally less likely to accept the COVID-19 vaccines. In addition, education influenced vaccine views differently across religious groups, and those who felt vaccination was compatible with their religion were more likely to accept a vaccine. These findings show we should monitor vaccine confidence and tailor efforts to reduce vaccine hesitancy among different subgroups of people. Jin et al. explore the role of religion in perception of COVID-19 vaccination across Africa and Asia Pacific regions. They highlight important similarities and differences that may help inform future public health interventions around preventative medicine.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514028","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}
Lucie Bourguignon, Louis P. Lukas, Bethany R. Kondiles, Bobo Tong, Jaimie J. Lee, Tomás Gomes, Wolfram Tetzlaff, John L. K. Kramer, Matthias Walter, Catherine R. Jutzeler
{"title":"Impact of commonly administered drugs on the progression of spinal cord injury: a systematic review","authors":"Lucie Bourguignon, Louis P. Lukas, Bethany R. Kondiles, Bobo Tong, Jaimie J. Lee, Tomás Gomes, Wolfram Tetzlaff, John L. K. Kramer, Matthias Walter, Catherine R. Jutzeler","doi":"10.1038/s43856-024-00638-0","DOIUrl":"10.1038/s43856-024-00638-0","url":null,"abstract":"Complications arising from acute traumatic spinal cord injury (SCI) are routinely managed by various pharmacological interventions. Despite decades of clinical application, the potential impact on neurological recovery has been largely overlooked. This study aims to highlight commonly administered drugs with potential disease-modifying effects. This systematic literature review included studies referenced in PubMed, Scopus and Web of Science from inception to March 31st, 2021, which assess disease-modifying properties on neurological and/or functional recovery of drugs routinely administered following spinal cord injury. Drug effects were classified as positive, negative, mixed, no effect, or not (statistically) reported. Risk of bias was assessed separately for animal, randomized clinical trials, and observational human studies. We analyzed 394 studies conducting 486 experiments that evaluated 144 unique or combinations of drugs. 195 of the 464 experiments conducted on animals (42%) and one study in humans demonstrate positive disease-modifying properties on neurological and/or functional outcomes. Methylprednisolone, melatonin, estradiol, and atorvastatin are the most common drugs associated with positive effects. Two studies on morphine and ethanol report negative effects on recovery. Despite a large heterogeneity observed in study protocols, research from bed to bench and back to bedside provides an alternative approach to identify new candidate drugs in the context of SCI. Future research in human populations is warranted to determine if introducing drugs like melatonin, estradiol, or atorvastatin would contribute to enhancing neurological outcomes after acute SCI. Patients with spinal cord injury (SCI) are exposed to a wide range of medications treating health conditions arising as a consequence of the initial injury. The effect of providing patients with a large number of medications in the early period after injury, that is in the first days to weeks, on recovery from SCI, however, is typically not considered. This extensive and structured review of evidence from pre-clinical (animal) and clinical (human) studies quantifies these effects for the first time. 144 unique drugs or combinations of drugs previously reported to be administered in animal models or to patients with SCI have been studied for their effect on recovery across 486 distinct experiments. A small subset of drugs are associated with positive effects, and provide potential targets for further study to determine if they can be used to treat SCI. Bourguignon, Lukas et al. systematically review the effect of drugs commonly administered after traumatic spinal cord injury on the neurological recovery in both animal studies and humans. Extensive heterogeneity in study characteristics and results highlight the need for harmonization across the field but also the potential for drug repurposing.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514035","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}
Mridula Shankar, A. Metin Gülmezoglu, Joshua P. Vogel, Shivaprasad S. Goudar, Annie McDougall, Manjunath S. Somannavar, Sara Rushwan, Yeshita V. Pujar, Umesh Charantimath, Anne Ammerdorffer, Meghan A. Bohren
{"title":"Eliminating gender bias in biomedical research requires fair inclusion of pregnant women and gender diverse people","authors":"Mridula Shankar, A. Metin Gülmezoglu, Joshua P. Vogel, Shivaprasad S. Goudar, Annie McDougall, Manjunath S. Somannavar, Sara Rushwan, Yeshita V. Pujar, Umesh Charantimath, Anne Ammerdorffer, Meghan A. Bohren","doi":"10.1038/s43856-024-00629-1","DOIUrl":"10.1038/s43856-024-00629-1","url":null,"abstract":"Systematic under-representation of pregnant women and gender diverse pregnant people in clinical research has prevented them from benefitting fairly from biomedical advances. The resulting lack of pharmacological safety and efficacy data leads to medicine discontinuation, sub-optimal dosing, and reliance on repurposed therapies. We identify four roadblocks to fair inclusion. First, investment and research are inhibited by protectionist attitudes among research gatekeepers who view pregnancy as a vulnerable state. Second, exclusion ignores human-specific biological variations affecting medication absorption and impacts on the pregnant body. Third, pregnant populations in low-and middle-income countries face a double disadvantage due to gender and location, despite bearing a disproportionate maternal mortality burden. Fourth, perspectives and experiences of pregnant populations are undervalued in clinical intervention design. We propose five actions to optimize fair inclusion: fostering reciprocal partnerships, prioritizing multi-disciplinary research, awareness-raising of the need for pharmaceutical innovation, conducting regulatory analyses, and promoting responsible inclusion over presumptive exclusion. Shankar et al. discuss how to better undertake research and assure health interests of pregnant women and gender diverse pregnant people. Their recommendations include growing research and regulatory partnerships and innovation, plus promoting responsible inclusion in place of presumptive exclusion.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11500090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514029","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":"Understanding and mitigating the impact of race with adversarial autoencoders","authors":"Kathryn Sarullo, S. Joshua Swamidass","doi":"10.1038/s43856-024-00627-3","DOIUrl":"10.1038/s43856-024-00627-3","url":null,"abstract":"Artificial intelligence carries the risk of exacerbating some of our most challenging societal problems, but it also has the potential of mitigating and addressing these problems. The confounding effects of race on machine learning is an ongoing subject of research. This study aims to mitigate the impact of race on data-derived models, using an adversarial variational autoencoder (AVAE). In this study, race is a self-reported feature. Race is often excluded as an input variable, however, due to the high correlation between race and several other variables, race is still implicitly encoded in the data. We propose building a model that (1) learns a low dimensionality latent spaces, (2) employs an adversarial training procedure that ensure its latent space does not encode race, and (3) contains necessary information for reconstructing the data. We train the autoencoder to ensure the latent space does not indirectly encode race. In this study, AVAE successfully removes information about race from the latent space (AUC ROC = 0.5). In contrast, latent spaces constructed using other approaches still allow the reconstruction of race with high fidelity. The AVAE’s latent space does not encode race but conveys important information required to reconstruct the dataset. Furthermore, the AVAE’s latent space does not predict variables related to race (R2 = 0.003), while a model that includes race does (R2 = 0.08). Though we constructed a race-independent latent space, any variable could be similarly controlled. We expect AVAEs are one of many approaches that will be required to effectively manage and understand bias in ML. Computer models used in healthcare can sometimes be biased based on race, leading to unfair outcomes. Our study focuses on understanding and reducing the impact of self-reported race in computer models that learn from data. We use a model called an Adversarial Variational Autoencoder (AVAE), which helps ensure that the models don’t accidentally use race in their calculations. The AVAE technique creates a simplified version of the data, called a latent space, that leaves out race information but keeps other important details needed for accurate predictions. Our results show that this approach successfully removes race information from the models while still allowing them to work well. This method is one of many steps needed to address bias in computer learning and ensure fairer outcomes. Our findings highlight the importance of developing tools that can manage and understand bias, contributing to more equitable and trustworthy technology. Sarullo and Swamidass use an adversarial variational autoencoder (AVAE) to remove race information from computer models while retaining essential data for accurate predictions, effectively reducing bias. This approach highlights the importance of developing tools to manage bias, ensuring fairer and more trustworthy technology.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514037","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}
Keaton Stagaman, Matthew J. Kmiecik, Madeleine Wetzel, Stella Aslibekyan, Teresa Filshtein Sonmez, Pierre Fontanillas, 23andMe Research Team, Joyce Tung, Michael V. Holmes, Seth T. Walk, Madelyn C. Houser, Lucy Norcliffe-Kaufmann
{"title":"Oral and gut microbiome profiles in people with early idiopathic Parkinson’s disease","authors":"Keaton Stagaman, Matthew J. Kmiecik, Madeleine Wetzel, Stella Aslibekyan, Teresa Filshtein Sonmez, Pierre Fontanillas, 23andMe Research Team, Joyce Tung, Michael V. Holmes, Seth T. Walk, Madelyn C. Houser, Lucy Norcliffe-Kaufmann","doi":"10.1038/s43856-024-00630-8","DOIUrl":"10.1038/s43856-024-00630-8","url":null,"abstract":"Early detection of Parkinson’s disease (PD), a neurodegenerative disease with central and peripheral nerve involvement, ensures timely treatment access. Microbes influence nervous system health and are altered in PD. We examined gut and mouth microbiomes from recently diagnosed patients in a geographically diverse, matched case-control, shotgun metagenomics study. Here, we show greater alpha-diversity in 445 PD patients versus 221 controls. The microbial signature of PD includes overabundance of 16 OTUs, including Streptococcus mutans and Bifidobacterium dentium, and depletion of 28 OTUs. Machine learning models indicate that subspecies level oral microbiome abundances best distinguish PD with reasonably high accuracy (area under the curve: 0.758). Microbial networks are disrupted in cases, with reduced connectivity between short-chain fatty acid-producing bacteria the the gut. Importantly, microbiome diversity metrics are associated with non-motor autonomic symptom severity. Our results provide evidence that predictive oral PD microbiome signatures could possibly be used as biomarkers for the early detection of PD, particularly when there is peripheral nervous system involvement. Stagaman et al. investigate the associations between early idiopathic Parkinson’s disease (PD) and the diversity and composition of both saliva and stool microbiomes in a large, geographically diverse US cohort. Abundances of saliva microbes, particularly Prevotella, Neisseria, and Streptococcus OTUs, best distinguish between controls and cases. Parkinson’s disease (PD) is a neurodegenerative disease that is characterized by both motor symptoms, such as tremors, and non-motor symptoms, such as constipation. Our aim was to determine whether there were differences in the number and types of microbes living in the saliva and intestines of people with and without PD. We saw significant differences in the microbial communities living in healthy controls compared to people with PD. Additionally, we found that the proportions of microbe types in saliva were the best at distinguishing between controls and cases, and identified the specific kinds of microbes that were driving this distinction. These results highlight the potential importance of the saliva microbiome in understanding the causes and symptomatology of PD.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11499922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514036","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}
Daniel N. Candrea, Samyak Shah, Shiyu Luo, Miguel Angrick, Qinwan Rabbani, Christopher Coogan, Griffin W. Milsap, Kevin C. Nathan, Brock A. Wester, William S. Anderson, Kathryn R. Rosenblatt, Alpa Uchil, Lora Clawson, Nicholas J. Maragakis, Mariska J. Vansteensel, Francesco V. Tenore, Nicolas F. Ramsey, Matthew S. Fifer, Nathan E. Crone
{"title":"A click-based electrocorticographic brain-computer interface enables long-term high-performance switch scan spelling","authors":"Daniel N. Candrea, Samyak Shah, Shiyu Luo, Miguel Angrick, Qinwan Rabbani, Christopher Coogan, Griffin W. Milsap, Kevin C. Nathan, Brock A. Wester, William S. Anderson, Kathryn R. Rosenblatt, Alpa Uchil, Lora Clawson, Nicholas J. Maragakis, Mariska J. Vansteensel, Francesco V. Tenore, Nicolas F. Ramsey, Matthew S. Fifer, Nathan E. Crone","doi":"10.1038/s43856-024-00635-3","DOIUrl":"10.1038/s43856-024-00635-3","url":null,"abstract":"Brain-computer interfaces (BCIs) can restore communication for movement- and/or speech-impaired individuals by enabling neural control of computer typing applications. Single command click detectors provide a basic yet highly functional capability. We sought to test the performance and long-term stability of click decoding using a chronically implanted high density electrocorticographic (ECoG) BCI with coverage of the sensorimotor cortex in a human clinical trial participant (ClinicalTrials.gov, NCT03567213) with amyotrophic lateral sclerosis. We trained the participant’s click detector using a small amount of training data (<44 min across 4 days) collected up to 21 days prior to BCI use, and then tested it over a period of 90 days without any retraining or updating. Using a click detector to navigate a switch scanning speller interface, the study participant can maintain a median spelling rate of 10.2 characters per min. Though a transient reduction in signal power modulation can interrupt usage of a fixed model, a new click detector can achieve comparable performance despite being trained with even less data (<15 min, within 1 day). These results demonstrate that a click detector can be trained with a small ECoG dataset while retaining robust performance for extended periods, providing functional text-based communication to BCI users. Amyotrophic lateral sclerosis (ALS) is a progressive disease of the nervous system that causes muscle weakness and leads to paralysis. People living with ALS therefore struggle to communicate with family and caregivers. We investigated whether the brain signals of a participant with ALS could be used to control a spelling application. Specifically, when the participant attempted a grasping movement, a computer method detected increased brain signals from electrodes implanted on the surface of his brain, and thereby generated a mouse-click. The participant clicked on letters or words from a spelling application to type sentences. Our method was trained using 44 min’ worth of brain signals and performed reliably for three months without any retraining. This approach can potentially be used to restore communication to other severely paralyzed individuals over an extended time period and after only a short training period. Candrea et al. develop a brain-computer interface click detection algorithm using electrocorticographic signals. Using this click detector, a clinical trial participant with amyotrophic lateral sclerosis was able to control a switch-scanning spelling application and achieve high rates of spelling without model retraining.","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11494178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482293","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}