medRxiv (Cold Spring Harbor Laboratory)最新文献

{"title":"Closed-loop Cortical Network Stimulation as treatment for refractory epilepsy originating from the primary motor cortex","authors":"Dorien van Blooijs, Sifra Blok, Erik Aarnoutse, Nicole van Klink, Geertjan Huiskamp, Mireille Bourez-Swart, Tineke Gebbink, Pieter van Eijsden, Sandra van der Salm, Nick Ramsey, Frans Leijten","doi":"10.1101/2023.11.11.23298410","DOIUrl":"https://doi.org/10.1101/2023.11.11.23298410","url":null,"abstract":"Background: In epilepsy patients, cortical electrical stimulation is therapeutically applied in the seizure onset zone (SOZ) to reduce seizures. However, in patients with epilepsy arising from the primary motor cortex (M1), stimulation can result in undesired muscle contractions or loss of motor control. We postulate that seizure frequency reduction can also be obtained by cortical network stimulation in a site outside M1 with a connection to the SOZ in M1. Methods: Patients with electroclinical seizures suspected to arise from M1 were selected. SOZ was delineated during chronic intracranial EEG monitoring. Using Single Pulse Electrical Stimulation, the underlying effective corticocortical network was determined and a site for stimulation was selected that was connected to the SOZ. One subdural strip was implanted on top of the SOZ, and one on the stimulus location. A subcutaneous neurostimulator (Activa PC+S, Medtronic), capable of recording and closed-loop stimulation, was connected to both strips. Seizure data was collected for three to five months and used to optimize a seizure detection algorithm. After this, closed-loop cortical network stimulation was applied during seven to nine months. Results: In five subjects (two females, mean age 34 years, range: 21-51 years), a neurostimulation system was implanted. One subject was seizure free for 17 months post-implantation without applying any electrical stimulation. Two subjects were responders with a mean seizure frequency reduction of 73%. In two subjects, seizure frequency was reduced by on average 35%. Discussion: In this clinical trial with five subjects suffering from refractory epilepsy arising in M1, seizure frequency was reduced with electrical stimulation in all subjects. This is a proof of concept showing that closed-loop cortical network stimulation can reduce seizure frequency as equal to direct SOZ stimulation in non-primary motor epilepsy.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"7 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135037987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disentangling heterogeneity in Substance Use Disorders: Insights from Genome-Wide Polygenic Scores","authors":"Laura Vilar-Ribo, Silvia Alemany, Judit Cabana-Dominguez, Natalia Llonga, Lorena Arribas, Lara Grau-Lopez, Constanza Daigre, Bru Cormand, Noelia Fernandez-Castillo, Josep Antoni Ramos-Quiroga, Maria Soler Artigas, Marta Ribases","doi":"10.1101/2023.11.11.23298413","DOIUrl":"https://doi.org/10.1101/2023.11.11.23298413","url":null,"abstract":"Substance use disorder (SUD) is a global health problem with significant impact on individuals and society. The presentation of SUD is diverse, involving various substances, ages at onset, comorbid conditions, and disease trajectories. Current treatments for SUD struggle to address this heterogeneity, resulting in high relapse rates. SUD often co-occurs with other psychiatric and mental-health related conditions that contribute to the heterogeneity of the disorder and predispose to adverse disease trajectories. Family and genetic studies highlight the role of genetic and environmental factors in the course of SUD, and point to a shared genetic liability between SUDs and comorbid psychopathology. In this study, we aimed to disentangle SUD heterogeneity using a deeply phenotyped SUD cohort and polygenic scores (PGSs) for psychiatric disorders and related traits. We explored associations between PGSs and various SUD-related phenotypes, as well as PGS-environment interactions using information on lifetime emotional, physical and/or sexual abuse. Our results revealed different patterns of associations between the genetic liability for mental-health related traits and SUD-related phenotypes, which may help explain part of the heterogeneity observed in SUD. In our SUD sample, we found associations linking the genetic liability for ADHD with lower educational attainment, the genetic liability for PTSD with higher rates of unemployment, the genetic liability for educational attainment with lower rates of criminal records and unemployment and the genetic liability for well-being with lower rates of outpatient treatments and fewer problems related to family and social relationships. We also found evidence of PGS-environment interactions showing that genetic liability for suicide attempt worsened the psychiatric status in SUD individuals with a history of emotional physical and/or sexual abuse. Collectively, these data contribute to a better understanding of the role of the genetic liability for mental health-related conditions and adverse life experiences in SUD heterogeneity.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"1 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135038863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of Per- and Polyfluoroalkyl Substance (PFAS) concentrations in a community-based sample of infants from Samoa","authors":"Lacey W Heinsberg, Shan Niu, Kendall J Arslanian, Ruiwen Chen, Megha Bedi, Folla Unasa-Apelu, Ulai T Fidow, Christina Soti-Ulberg, Yvette P Conley, Daniel E Weeks, Carla A Ng, Nicola L Hawley","doi":"10.1101/2023.11.10.23298357","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298357","url":null,"abstract":"Per- and polyfluoroalkyl substances (PFAS) are persistent contaminants with documented harmful health effects. Despite increasing research, little attention has been given to studying PFAS contamination in low- and middle-income countries, including Samoa, where there is more recent modernization and potential window to examine earlier stages of PFAS exposure and consequences. Using data and biosamples collected through the Foafoaga o le Ola (\"Beginning of Life\") Study, which recruited a sample of mothers and infants from Samoa, we conducted an exploratory study to describe concentrations of 40 PFAS analytes in infant cord blood collected at birth (n=66) and dried blood spots (DBS) collected at 4 months post-birth (n=50). Of the 40 PFAS analytes tested, 19 were detected in cord blood, with 11 detected in >10% of samples (PFBA, PFPeA, PFHpA, PFOA, PFNA, PFDA, PFUnA, PFTrDA, PFHxS, PFOS, and 9Cl-PF3ONS); 12 analytes were detected in DBS, with 3 detected in >10% of samples (PFBA, PFHxS, and PFOS). PFAS concentrations were generally lower than those reported in existing literature, with the exception of PFHxS, which was detected at higher concentrations. In cord blood, we noted associations between higher PFHxS and male sex, higher PFPeA and residence in Northwest 'Upolu (NWU) compared to the Apia Urban Area (AUA), and lower PFUnA and 9Cl-PF3ONS with greater socioeconomic resources. In DBS, we found associations between higher PFBA and greater socioeconomic resources, and between lower PFBA and PFHxS and residence in NWU versus AUA. However, the latter association did not hold when controlling for socioeconomic resources. Finally, we observed associations between nutrition source at 4 months and DBS PFBA and PFHxS, with formula- or mixed-fed infants having higher concentrations compared to exclusively breastfed infants. This study presents the first evidence of PFAS contamination in Samoa. Additional work in larger samples is needed to identify potentially modifiable determinants of PFAS concentrations, information that is critical for informing environmental and health policy measures.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"15 24","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135042733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic Simulation Modeling to Analyze the Impact of Whole Genome Sequencing National Implementation Scenarios in Lung cancer on Time-to-Treatment, Costs and Patient Demand","authors":"Michiel van de Ven, Hendrik Koffijberg, Valesca Retel, Wim van Harten, Maarten IJzerman","doi":"10.1101/2023.11.10.23298371","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298371","url":null,"abstract":"Background: Although Whole Genome Sequencing (WGS) is increasingly proposed to unravel molecular origins of advanced cancers, it is less clear if and how WGS should be routinely offered in the health service. The objective of this study is to investigate how the cost per patient and time-to-treatment is affected if WGS were implemented in the national health system and how these outcomes differ among subgroups of patients with lung cancer. This first-ever study used health systems simulation modeling to analyze implementation scenarios ensuring sustainable access to cancer treatment. Methods: A base case and three scenarios (varying stage of disease and hospitals offering WGS) the optimal placement of WGS in the diagnostic pathway was simulated using a dynamic simulation model. The model simulated lung cancer patients undergoing molecular diagnostic procedures in one or multiple hospitals. The model also included patient and healthcare provider heterogeneity as well as referral patterns of lung cancer (LC) patients using patient-level data obtained from the Netherlands Cancer Registry. Model outcomes were the time-to-treatment, total diagnostic cost, and the demand for WGS sequencing capacity including the expertise of a molecular tumor board. Results: The time-to-treatment ranged between 20-46 days for all four scenarios considered. The cost of molecular diagnostic testing per patient ranged from Euro 621 in the base case to Euro 1930 in the scenario where all LC patients (stage I-IV) receive upfront WGS. Compared to the base case, upfront testing using WGS in all LC patients led to a 33% reduction in the time-to-treatment, a 210% increase in the cost per patient and a six-fold increase in total diagnostic costs. Conclusions: This first-ever study investigating implementation scenarios demonstrated that upfront WGS for all lung cancer patients can reduce the time to treatment yet at a higher cost. However, upfront WGS also reduces diagnostic pathway complexity, which may improve care planning and treatment efficiency. The model is versatile in its approach to study the impact of price discounts or the amount of actionable targets tested for and further analysis showed discounts on consumables up to 50% imply WGS would the preferred strategy.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"45 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135042815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural Mechanisms Underlying Attention Control In Relation To Anxiety And Depressive Symptoms","authors":"Raye Fion Loh, Savannah Siew, Junhong Yu","doi":"10.1101/2023.11.10.23298383","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298383","url":null,"abstract":"Poor attention control has been implicated in the development of anxiety and depression-related disorders and it is a key diagnostic criterion. This study aims to understand the possible neural mechanisms behind this. 191 German participants aged 20-80 were assessed on their level of attention control, depression and anxiety as part of the Leipzig Study for Mind-Body-Emotion Interactions. Network-based statistics were applied to their resting-state functional connectivity (rsFC) data to identify networks positively and negatively associated with attention control. Mediation analyses were then performed with these two networks as mediators. Attention control correlated negatively with both anxiety and depression. The frontoparietal- or dorsal attention-somatomotor connections featured prominently in the attention control-positive network (ACPN). This network correlated positively with attention control, and negatively with both anxiety and depression. The attention control-negative network (ACNN) was largely represented by the ventral attention- or dorsal attention-visual connections. The ACPN was a significant and partial mediator between attention control and anxiety and a complete mediator for the relationship between attention control and depression. These findings could prove useful as neuroeducation in anxiety- and depression-related disorders, and as evidence for attention-based therapy.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"16 22","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135042893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal exposure to environmental contaminants is associated with altered cord serum metabolite profiles in future immune-mediated diseases","authors":"Bagavathy Shanmugam Karthikeyan, Tuulia Hyotylainen, Tannaz Ghaffarzadegan, Eric Triplett, Matej Oresic, Johnny Ludvigsson","doi":"10.1101/2023.11.10.23298353","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298353","url":null,"abstract":"Prenatal exposure to environmental contaminants is a significant health concern because it has the potential to interfere with host metabolism, leading to adverse health effects in early childhood and later in life. Growing evidence suggests that genetic and environmental factors, as well as their interactions, play a significant role in the development of autoimmune diseases. In this study, we hypothesized that prenatal exposure to environmental contaminants impacts cord serum metabolome and contributes to the development of autoimmune diseases. We selected cord serum samples from All Babies in Southeast Sweden (ABIS) general population cohort, from infants who later developed one or more autoimmune-mediated and inflammatory diseases: celiac disease (CD), Crohn's disease (IBD), hypothyroidism (HT), juvenile idiopathic arthritis (JIA), and type 1 diabetes (T1D) (all cases, N = 62), along with matched controls (N = 268). Using integrated exposomics and metabolomics mass spectrometry (MS) based platforms, we determined the levels of contaminants and metabolites. Differences in exposure levels were found between the controls and those who later developed various diseases. High contaminant exposure levels were associated with changes in metabolome, including amino acids and free fatty acids. Specifically, we identified marked associations between metabolite levels and exposure levels of deoxynivalenol (DON), bisphenol S (BPS), and specific per- and polyfluorinated substances (PFAS). Our study suggests that prenatal exposure to specific environmental contaminants alters the cord serum metabolomes, which, in turn, might increase the risk of various immune-mediated disease later in life.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"16 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135043048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vision Impairment prediction for patients diagnosed with Multiple Sclerosis: Cosmos based model training and evaluation","authors":"Brandon Buxton, Amr Hassan, Nevin Shalaby, John W Lindsey, John Lincoln, Elmer Bernstam, Wagida Anwar, Degui Zhi, Laila Rasmy","doi":"10.1101/2023.11.10.23298366","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298366","url":null,"abstract":"Objectives Multiple sclerosis (MS) is a complex autoimmune neurological disorder that frequently impacts vision. One of the most frequent initial presentations of MS is acute vision loss due to optic neuritis, an acute disorder caused by MS involvement with the optic nerve. While vision impairment is often the first sign of MS, it can occur or recur at any time during the patient's course. In this study, we aim to develop and evaluate machine learning models to predict vision impairment in patients with MS, both at the time of first MS diagnosis and throughout their course of care. Early awareness and intervention in patients likely to have vision loss can help preserve patient quality of life. Materials and Methods Using the Epic Cosmos de-identified electronic health record (EHR) dataset, we queried 213+ million patients to extract our MS cohort. Cases were defined as MS patients with vision impairment or optic neuritis (VI) following their first MS diagnosis, while controls were MS patients without VI. We trained logistic regression (LR), light gradient boosting machine (LGBM), and recurrent neural network (RNN) models to predict future VI in MS patients. The models were evaluated for two distinct clinical tasks: prediction of VI at the time of the first MS diagnosis and prediction of VI at the most recent visit. Similarly, we trained the models on different segments of the patient trajectory including up until the first MS diagnosis (MS-First Diagnosis), or until the most recent visit before developing the outcome (MS-Progress) as well as the combination of both (MS-General). Finally, we trained a survival model with the goal of predicting patient likelihood of vision loss over time. We compared the models' performance using AUROC, AUPRC, and Brier scores. Results We extracted a cohort of 377,097 patients with MS, including 42,281 VI cases. Our trained models achieved ~80% AUROC, with RNN-based models outperforming LGBM and LR (79.6% vs 72.8% and 68.6%, respectively) when considering the full patient trajectory. The MS-General RNN model had the highest AUROC (64.4%) for predicting VI at the first MS diagnosis. The MS-Progress survival model achieved a 75% concordance index on the full trajectory, while the more clinically relevant MS-First Diagnosis model achieved 63.1% at initial diagnosis. Discussion and Conclusion The MS-Progress and MS-General RNN models performed best in both prediction scenarios. While MS-General achieved the best performance at the time of first MS diagnosis with around 1% AUROC increase compared to the MS-First Diagnosis model, it showed around 1% AUROC decrease on the MS progress scenario. All RNN survival models performed the best when they were trained on data corresponding to the evaluation use-case scenarios. RNN based models showed promising performance that demonstrates that they can be useful clinical tools to predict risk of future VI events in patients with MS. Further development of these models will focus ","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"20 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135086860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Liver Disease-Specific Large Language Model Chat Interface using Retrieval Augmented Generation","authors":"Jin Ge, Steve Sun, Joseph Owens, Victor Galvez, Oksana Gologorskaya, Jennifer C Lai, Mark J Pletcher, Ki Lai","doi":"10.1101/2023.11.10.23298364","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298364","url":null,"abstract":"Background: Large language models (LLMs) have significant capabilities in clinical information processing tasks. Commercially available LLMs, however, are not optimized for clinical uses and are prone to generating incorrect or hallucinatory information. Retrieval-augmented generation (RAG) is an enterprise architecture that allows embedding of customized data into LLMs. This approach \"specializes\" the LLMs and is thought to reduce hallucinations. Methods: We developed \"LiVersa,\" a liver disease-specific LLM, by using our institution's protected health information (PHI)-complaint text embedding and LLM platform, \"Versa.\" We conducted RAG on 30 publicly available American Association for the Study of Liver Diseases (AASLD) guidelines and guidance documents to be incorporated into LiVersa. We evaluated LiVersa's performance by comparing its responses versus those of trainees from a previously published knowledge assessment study regarding hepatitis B (HBV) treatment and hepatocellular carcinoma (HCC) surveillance. Results: LiVersa answered all 10 questions correctly when forced to provide a \"yes\" or \"no\" answer. Full detailed responses with justifications and rationales, however, were not completely correct for three of the questions. Discussions: In this study, we demonstrated the ability to build disease-specific and PHI-compliant LLMs using RAG. While our LLM, LiVersa, demonstrated more specificity in answering questions related to clinical hepatology - there were some knowledge deficiencies due to limitations set by the number and types of documents used for RAG. The LiVersa prototype, however, is a proof of concept for utilizing RAG to customize LLMs for clinical uses and a potential strategy to realize personalized medicine in the future.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135041819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Admissions to paediatric medical wards with a primary mental health diagnosis: a systematic review of the literature","authors":"Adriana Vazquez-Vazquez, Abigail Smith, Faith Gibson, Helen Roberts, Gabrielle Mathews, Joseph Ward, Russell M Viner, Dasha Nicholls, Francesca Cornaglia, Damian Roland, Kirsty Phillips, Lee D Hudson","doi":"10.1101/2023.11.10.23298368","DOIUrl":"https://doi.org/10.1101/2023.11.10.23298368","url":null,"abstract":"Objective: To systematically review the literature describing children and young people (CYP) admissions to paediatric general wards because of primary mental health reasons, particularly in MH crisis. Design: PubMed, Embase, PsychINFO, Web of Science and Google Scholar were searched. We addressed five search questions to inform: trends and/or the number of admissions, the risk factors for adverse care, the experiences of CYP, families/carers and health care professionals (HCPs) and the evidence of interventions aimed at improving the care during admissions. Two reviewers independently assessed the relevance of abstracts identified, extracted data and undertook quality assessment. This review was registered with Prospero (CRD42022350655). Results: Thirty-two studies met the inclusion criteria. Eighteen addressed trends and or numbers/proportions of admissions, 12 provided data about the views/experiences of HCPs, two provided data about CYPs experiences and four explored improving care. We were unable to identify studies examining risk factors for harm during admissions, but studies did report the length of stay in general paediatric/adult settings while waiting for specialised care, which could be considered a risk factor while caring for this group. Conclusions: MH admissions to childrens wards are a long-standing issue and are increasing. CYP will continue to need to be admitted in crisis, with paediatric wards a common allocation whilst waiting for assessment. For services to be delivered effectively and for CYPs and their families/carers to feel supported and HCPs to feel confident, we need to facilitate more integrated physical and MH pathways of care.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"8 10","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135042493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiological Surveillance of Amyotrophic Lateral Sclerosis: A Review","authors":"Christina Wolfson, Danielle Elizabeth Gauvin, Foluso Ishola, Maryam Oskoui, Boris Atabe","doi":"10.1101/2023.11.10.23297968","DOIUrl":"https://doi.org/10.1101/2023.11.10.23297968","url":null,"abstract":"Background: Registries and clinical databases are important tools to systematically record and collect information about individuals with rare diseases and to monitor disease patterns in populations. Through a review of the published literature on strategies used for surveillance of Amyotrophic Lateral Sclerosis (ALS), our objective was to better delineate the varied approaches used to monitor ALS at a population level. Further, we sought to determine the potential of registries to enhance knowledge on the epidemiology of ALS using a case study comparing epidemiological outputs from registries in the United States, United Kingdom, and Italy. Summary: We searched Medline, Embase, Global Health, PsycInfo, Cochrane Library, and CINAHL identifying articles published between January 1st, 2010, and May 12th, 2021. Studies describing population registries, cohorts of individuals with ALS, or large-scale studies aimed at systematically identifying people with ALS, were eligible for inclusion. 1,447 publications were found, of which 141 were selected for full text review, and 41 of those were selected for data extraction. We identified ALS registries and pertinent databases in 4 continents (North America, Europe, Asia, and Oceania). Stated objectives of the registries/databases shaped their framework, methodology, and follow-up. The US National Registry demonstrates substantial research outputs and methodological strengths, producing many descriptive epidemiological outputs (n=5 studies) and several methodological papers (n=12 studies). The UK and Italy overall each produced a similar number of studies (albeit with fewer methodological papers), across several different registries and regions. Key Messages: Due to challenges inherent to the surveillance of rare diseases, registries are a vital tool in determining and assessing the global impact of ALS. Nevertheless, the development and implementation of registries is not feasible everywhere in the world. There are advantages and drawbacks to structuring registries at a national or regional level, often dictated by funding availability, resources and health care infrastructure, and research objectives. To fully assess the epidemiological burden of ALS globally, collaborative initiatives are needed to fill gaps in knowledge, and there is a critical need to harmonize and optimize the development, collection, and sharing of data across registries.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135043229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}