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1.
J Med Internet Res ; 23(2): e26107, 2021 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-33529156

RESUMO

BACKGROUND: Changes in autonomic nervous system function, characterized by heart rate variability (HRV), have been associated with infection and observed prior to its clinical identification. OBJECTIVE: We performed an evaluation of HRV collected by a wearable device to identify and predict COVID-19 and its related symptoms. METHODS: Health care workers in the Mount Sinai Health System were prospectively followed in an ongoing observational study using the custom Warrior Watch Study app, which was downloaded to their smartphones. Participants wore an Apple Watch for the duration of the study, measuring HRV throughout the follow-up period. Surveys assessing infection and symptom-related questions were obtained daily. RESULTS: Using a mixed-effect cosinor model, the mean amplitude of the circadian pattern of the standard deviation of the interbeat interval of normal sinus beats (SDNN), an HRV metric, differed between subjects with and without COVID-19 (P=.006). The mean amplitude of this circadian pattern differed between individuals during the 7 days before and the 7 days after a COVID-19 diagnosis compared to this metric during uninfected time periods (P=.01). Significant changes in the mean and amplitude of the circadian pattern of the SDNN was observed between the first day of reporting a COVID-19-related symptom compared to all other symptom-free days (P=.01). CONCLUSIONS: Longitudinally collected HRV metrics from a commonly worn commercial wearable device (Apple Watch) can predict the diagnosis of COVID-19 and identify COVID-19-related symptoms. Prior to the diagnosis of COVID-19 by nasal swab polymerase chain reaction testing, significant changes in HRV were observed, demonstrating the predictive ability of this metric to identify COVID-19 infection.


Assuntos
/métodos , /fisiopatologia , Frequência Cardíaca/fisiologia , Dispositivos Eletrônicos Vestíveis , Adulto , Ritmo Circadiano/fisiologia , Feminino , Pessoal de Saúde , Humanos , Masculino , /isolamento & purificação
2.
medRxiv ; 2020 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-32511564

RESUMO

IMPORTANCE: Preliminary reports indicate that acute kidney injury (AKI) is common in coronavirus disease (COVID)-19 patients and is associated with worse outcomes. AKI in hospitalized COVID-19 patients in the United States is not well-described. OBJECTIVE: To provide information about frequency, outcomes and recovery associated with AKI and dialysis in hospitalized COVID-19 patients. DESIGN: Observational, retrospective study. SETTING: Admitted to hospital between February 27 and April 15, 2020. PARTICIPANTS: Patients aged ≥18 years with laboratory confirmed COVID-19 Exposures: AKI (peak serum creatinine increase of 0.3 mg/dL or 50% above baseline). Main Outcomes and Measures: Frequency of AKI and dialysis requirement, AKI recovery, and adjusted odds ratios (aOR) with mortality. We also trained and tested a machine learning model for predicting dialysis requirement with independent validation. RESULTS: A total of 3,235 hospitalized patients were diagnosed with COVID-19. AKI occurred in 1406 (46%) patients overall and 280 (20%) with AKI required renal replacement therapy. The incidence of AKI (admission plus new cases) in patients admitted to the intensive care unit was 68% (553 of 815). In the entire cohort, the proportion with stages 1, 2, and 3 AKI were 35%, 20%, 45%, respectively. In those needing intensive care, the respective proportions were 20%, 17%, 63%, and 34% received acute renal replacement therapy. Independent predictors of severe AKI were chronic kidney disease, systolic blood pressure, and potassium at baseline. In-hospital mortality in patients with AKI was 41% overall and 52% in intensive care. The aOR for mortality associated with AKI was 9.6 (95% CI 7.4-12.3) overall and 20.9 (95% CI 11.7-37.3) in patients receiving intensive care. 56% of patients with AKI who were discharged alive recovered kidney function back to baseline. The area under the curve (AUC) for the machine learned predictive model using baseline features for dialysis requirement was 0.79 in a validation test. CONCLUSIONS AND RELEVANCE: AKI is common in patients hospitalized with COVID-19, associated with worse mortality, and the majority of patients that survive do not recover kidney function. A machine-learned model using admission features had good performance for dialysis prediction and could be used for resource allocation.

3.
Sci Data ; 5: 180096, 2018 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-29786695

RESUMO

Widespread adoption of smart mobile platforms coupled with a growing ecosystem of sensors including passive location tracking and the ability to leverage external data sources create an opportunity to generate an unprecedented depth of data on individuals. Mobile health technologies could be utilized for chronic disease management as well as research to advance our understanding of common diseases, such as asthma. We conducted a prospective observational asthma study to assess the feasibility of this type of approach, clinical characteristics of cohorts recruited via a mobile platform, the validity of data collected, user retention patterns, and user data sharing preferences. We describe data and descriptive statistics from the Asthma Mobile Health Study, whereby participants engaged with an iPhone application built using Apple's ResearchKit framework. Data from 6346 U.S. participants, who agreed to share their data broadly, have been made available for further research. These resources have the potential to enable the research community to work collaboratively towards improving our understanding of asthma as well as mobile health research best practices.


Assuntos
Asma , Telemedicina , Asma/fisiopatologia , Asma/terapia , Feminino , Humanos , Masculino , Estudos Prospectivos , Smartphone , Inquéritos e Questionários
4.
BMC Med Genomics ; 11(1): 5, 2018 01 30.
Artigo em Inglês | MEDLINE | ID: mdl-29382336

RESUMO

BACKGROUND: To address the need for more effective genomics training, beginning in 2012 the Icahn School of Medicine at Mount Sinai has offered a unique laboratory-style graduate genomics course, "Practical Analysis of Your Personal Genome" (PAPG), in which students optionally sequence and analyze their own whole genome. We hypothesized that incorporating personal genome sequencing (PGS) into the course pedagogy could improve educational outcomes by increasing student motivation and engagement. Here we extend our initial study of the pilot PAPG cohort with a report on student attitudes towards genome sequencing, decision-making, psychological wellbeing, genomics knowledge and pedagogical engagement across three course years. METHODS: Students enrolled in the 2013, 2014 and 2015 course years completed questionnaires before (T1) and after (T2) a prerequisite workshop (n = 110) and before (T3) and after (T4) PAPG (n = 66). RESULTS: Students' interest in PGS was high; 56 of 59 eligible students chose to sequence their own genome. Decisional conflict significantly decreased after the prerequisite workshop (T2 vs. T1 p < 0.001). Most, but not all students, reported low levels of decision regret and test-related distress post-course (T4). Each year baseline decisional conflict decreased (p < 0.001) suggesting, that as the course became more established, students increasingly made their decision prior to enrolling in the prerequisite workshop. Students perceived that analyzing their own genome enhanced the genomics pedagogy, with students self-reporting being more persistent and engaged as a result of analyzing their own genome. More than 90% of respondents reported spending additional time outside of course assignments analyzing their genome. CONCLUSIONS: Incorporating personal genome sequencing in graduate medical education may improve student motivation and engagement. However, more data will be needed to quantitatively evaluate whether incorporating PGS is more effective than other educational approaches.


Assuntos
Educação de Pós-Graduação/métodos , Genômica/educação , Tomada de Decisões , Estudos Longitudinais , Motivação , Inquéritos e Questionários
5.
Cold Spring Harb Mol Case Stud ; 3(3): a001602, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28487882

RESUMO

Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sole known molecular driver for CD. Although other somatic mutations were reported in these studies, their contribution to the pathogenesis of CD remains unexplored. No molecular drivers have been established for a large proportion of CD cases and tumor heterogeneity has not yet been investigated using genomics methods. Also, even in USP8-mutant tumors, a possibility may exist of additional contributing mutations, following a paradigm from other neoplasm types where multiple somatic alterations contribute to neoplastic transformation. The current study utilizes whole-exome discovery sequencing on the Illumina platform, followed by targeted amplicon-validation sequencing on the Pacific Biosciences platform, to interrogate the somatic mutation landscape in a corticotroph adenoma resected from a CD patient. In this USP8-mutated tumor, we identified an interesting somatic mutation in the gene RASD1, which is a component of the corticotropin-releasing hormone receptor signaling system. This finding may provide insight into a novel mechanism involving loss of feedback control to the corticotropin-releasing hormone receptor and subsequent deregulation of ACTH production in corticotroph tumors.


Assuntos
Adenoma Hipofisário Secretor de ACT/genética , Proteínas ras/genética , Adenoma/genética , Hormônio Adrenocorticotrópico/genética , Adulto , Corticotrofos/metabolismo , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Feminino , Humanos , Mutação , Hipersecreção Hipofisária de ACTH/genética , Neoplasias Hipofisárias/genética , Receptores de Hormônio Liberador da Corticotropina/genética , Análise de Sequência de DNA , Ubiquitina Tiolesterase/genética
6.
Nat Biotechnol ; 35(4): 354-362, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28288104

RESUMO

The feasibility of using mobile health applications to conduct observational clinical studies requires rigorous validation. Here, we report initial findings from the Asthma Mobile Health Study, a research study, including recruitment, consent, and enrollment, conducted entirely remotely by smartphone. We achieved secure bidirectional data flow between investigators and 7,593 participants from across the United States, including many with severe asthma. Our platform enabled prospective collection of longitudinal, multidimensional data (e.g., surveys, devices, geolocation, and air quality) in a subset of users over the 6-month study period. Consistent trending and correlation of interrelated variables support the quality of data obtained via this method. We detected increased reporting of asthma symptoms in regions affected by heat, pollen, and wildfires. Potential challenges with this technology include selection bias, low retention rates, reporting bias, and data security. These issues require attention to realize the full potential of mobile platforms in research and patient care.


Assuntos
Asma/epidemiologia , Pesquisa sobre Serviços de Saúde/organização & administração , Inquéritos Epidemiológicos/estatística & dados numéricos , Vigilância da População/métodos , Projetos de Pesquisa , Telemedicina/estatística & dados numéricos , Adolescente , Adulto , Idoso , Asma/diagnóstico , Feminino , Inquéritos Epidemiológicos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , New York/epidemiologia , Estudos Observacionais como Assunto/métodos , Seleção de Pacientes , Prevalência , Fatores de Risco , Adulto Jovem
7.
Pac Symp Biocomput ; 22: 300-311, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27896984

RESUMO

In our recent Asthma Mobile Health Study (AMHS), thousands of asthma patients across the country contributed medical data through the iPhone Asthma Health App on a daily basis for an extended period of time. The collected data included daily self-reported asthma symptoms, symptom triggers, and real time geographic location information. The AMHS is just one of many studies occurring in the context of now many thousands of mobile health apps aimed at improving wellness and better managing chronic disease conditions, leveraging the passive and active collection of data from mobile, handheld smart devices. The ability to identify patient groups or patterns of symptoms that might predict adverse outcomes such as asthma exacerbations or hospitalizations from these types of large, prospectively collected data sets, would be of significant general interest. However, conventional clustering methods cannot be applied to these types of longitudinally collected data, especially survey data actively collected from app users, given heterogeneous patterns of missing values due to: 1) varying survey response rates among different users, 2) varying survey response rates over time of each user, and 3) non-overlapping periods of enrollment among different users. To handle such complicated missing data structure, we proposed a probability imputation model to infer missing data. We also employed a consensus clustering strategy in tandem with the multiple imputation procedure. Through simulation studies under a range of scenarios reflecting real data conditions, we identified favorable performance of the proposed method over other strategies that impute the missing value through low-rank matrix completion. When applying the proposed new method to study asthma triggers and symptoms collected as part of the AMHS, we identified several patient groups with distinct phenotype patterns. Further validation of the methods described in this paper might be used to identify clinically important patterns in large data sets with complicated missing data structure, improving the ability to use such data sets to identify at-risk populations for potential intervention.


Assuntos
Aplicativos Móveis , Telemedicina , Asma/classificação , Asma/diagnóstico , Asma/terapia , Telefone Celular , Análise por Conglomerados , Biologia Computacional/métodos , Simulação por Computador , Coleta de Dados , Humanos , Inquéritos e Questionários , Fatores de Tempo
8.
Genome Med ; 8(1): 62, 2016 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-27245685

RESUMO

BACKGROUND: Personalized therapy provides the best outcome of cancer care and its implementation in the clinic has been greatly facilitated by recent convergence of enormous progress in basic cancer research, rapid advancement of new tumor profiling technologies, and an expanding compendium of targeted cancer therapeutics. METHODS: We developed a personalized cancer therapy (PCT) program in a clinical setting, using an integrative genomics approach to fully characterize the complexity of each tumor. We carried out whole exome sequencing (WES) and single-nucleotide polymorphism (SNP) microarray genotyping on DNA from tumor and patient-matched normal specimens, as well as RNA sequencing (RNA-Seq) on available frozen specimens, to identify somatic (tumor-specific) mutations, copy number alterations (CNAs), gene expression changes, gene fusions, and also germline variants. To provide high sensitivity in known cancer mutation hotspots, Ion AmpliSeq Cancer Hotspot Panel v2 (CHPv2) was also employed. We integrated the resulting data with cancer knowledge bases and developed a specific workflow for each cancer type to improve interpretation of genomic data. RESULTS: We returned genomics findings to 46 patients and their physicians describing somatic alterations and predicting drug response, toxicity, and prognosis. Mean 17.3 cancer-relevant somatic mutations per patient were identified, 13.3-fold, 6.9-fold, and 4.7-fold more than could have been detected using CHPv2, Oncomine Cancer Panel (OCP), and FoundationOne, respectively. Our approach delineated the underlying genetic drivers at the pathway level and provided meaningful predictions of therapeutic efficacy and toxicity. Actionable alterations were found in 91 % of patients (mean 4.9 per patient, including somatic mutations, copy number alterations, gene expression alterations, and germline variants), a 7.5-fold, 2.0-fold, and 1.9-fold increase over what could have been uncovered by CHPv2, OCP, and FoundationOne, respectively. The findings altered the course of treatment in four cases. CONCLUSIONS: These results show that a comprehensive, integrative genomic approach as outlined above significantly enhanced genomics-based PCT strategies.


Assuntos
Variação Genética , Genômica/métodos , Neoplasias/tratamento farmacológico , Neoplasias/genética , Medicina de Precisão/métodos , Adolescente , Adulto , Idoso , Criança , Variações do Número de Cópias de DNA , Exoma , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/patologia , Polimorfismo de Nucleotídeo Único , Prognóstico , Adulto Jovem
9.
Genet Med ; 18(5): 501-12, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26334178

RESUMO

BACKGROUND: As whole-genome sequencing (WGS) increases in availability, WGS educational aids are needed for research participants, patients, and the general public. Our aim was therefore to develop an accessible and scalable WGS educational aid. METHODS: We engaged multiple stakeholders in an iterative process over a 1-year period culminating in the production of a novel 10-minute WGS educational animated video, "Whole Genome Sequencing and You" (https://goo.gl/HV8ezJ). We then presented the animated video to 281 online-survey respondents (the video-information group). There were also two comparison groups: a written-information group (n = 281) and a no-information group (n = 300). RESULTS: In the video-information group, 79% reported the video was easy to understand, satisfaction scores were high (mean 4.00 on 1-5 scale, where 5 = high satisfaction), and knowledge increased significantly. There were significant differences in knowledge compared with the no-information group but few differences compared with the written-information group. Intention to receive personal results from WGS and decisional conflict in response to a hypothetical scenario did not differ between the three groups. CONCLUSIONS: The educational animated video, "Whole Genome Sequencing and You," was well received by this sample of online-survey respondents. Further work is needed to evaluate its utility as an aid to informed decision making about WGS in other populations.Genet Med 18 5, 501-512.


Assuntos
Genoma Humano/genética , Educação de Pacientes como Assunto , Pesquisa/educação , Gravação em Vídeo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Meios de Comunicação , Técnicas de Apoio para a Decisão , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Participação do Paciente
10.
BMC Med Genomics ; 8: 47, 2015 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-26264128

RESUMO

The growing gap between the demand for genome sequencing and the supply of trained genomics professionals is creating an acute need to develop more effective genomics education. In response we developed "Practical Analysis of Your Personal Genome", a novel laboratory-style medical genomics course in which students have the opportunity to obtain and analyze their own whole genome. This report describes our motivations for and the content of a "practical" genomics course that incorporates personal genome sequencing and the lessons we learned during the first three iterations of this course.


Assuntos
Educação Médica/métodos , Genômica/educação , Laboratórios , Sequenciamento de Nucleotídeos em Larga Escala , Medicina de Precisão
11.
Genet Med ; 17(11): 866-74, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25634025

RESUMO

PURPOSE: Health-care professionals need to be trained to work with whole-genome sequencing (WGS) in their practice. Our aim was to explore how students responded to a novel genome analysis course that included the option to analyze their own genomes. METHODS: This was an observational cohort study. Questionnaires were administered before (T3) and after the genome analysis course (T4), as well as 6 months later (T5). In-depth interviews were conducted at T5. RESULTS: All students (n = 19) opted to analyze their own genomes. At T5, 12 of 15 students stated that analyzing their own genomes had been useful. Ten reported they had applied their knowledge in the workplace. Technical WGS knowledge increased (mean of 63.8% at T3, mean of 72.5% at T4; P = 0.005). In-depth interviews suggested that analyzing their own genomes may increase students' motivation to learn and their understanding of the patient experience. Most (but not all) of the students reported low levels of WGS results-related distress and low levels of regret about their decision to analyze their own genomes. CONCLUSION: Giving students the option of analyzing their own genomes may increase motivation to learn, but some students may experience personal WGS results-related distress and regret. Additional evidence is required before considering incorporating optional personal genome analysis into medical education on a large scale.


Assuntos
Genoma Humano , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Estudantes/psicologia , Atitude do Pessoal de Saúde , Estudos de Coortes , Tomada de Decisões , Feminino , Genômica/métodos , Humanos , Estudos Longitudinais , Masculino , Estudantes de Medicina/psicologia , Inquéritos e Questionários
12.
Genome Med ; 5(12): 113, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24373383

RESUMO

BACKGROUND: Multiple laboratories now offer clinical whole genome sequencing (WGS). We anticipate WGS becoming routinely used in research and clinical practice. Many institutions are exploring how best to educate geneticists and other professionals about WGS. Providing students in WGS courses with the option to analyze their own genome sequence is one strategy that might enhance students' engagement and motivation to learn about personal genomics. However, if this option is presented to students, it is vital they make informed decisions, do not feel pressured into analyzing their own genomes by their course directors or peers, and feel free to analyze a third-party genome if they prefer. We therefore developed a 26-hour introductory genomics course in part to help students make informed decisions about whether to receive personal WGS data in a subsequent advanced genomics course. In the advanced course, they had the option to receive their own personal genome data, or an anonymous genome, at no financial cost to them. Our primary aims were to examine whether students made informed decisions regarding analyzing their personal genomes, and whether there was evidence that the introductory course enabled the students to make a more informed decision. METHODS: This was a longitudinal cohort study in which students (N = 19) completed questionnaires assessing their intentions, informed decision-making, attitudes and knowledge before (T1) and after (T2) the introductory course, and before the advanced course (T3). Informed decision-making was assessed using the Decisional Conflict Scale. RESULTS: At the start of the introductory course (T1), most (17/19) students intended to receive their personal WGS data in the subsequent course, but many expressed conflict around this decision. Decisional conflict decreased after the introductory course (T2) indicating there was an increase in informed decision-making, and did not change before the advanced course (T3). This suggests that it was the introductory course content rather than simply time passing that had the effect. In the advanced course, all (19/19) students opted to receive their personal WGS data. No changes in technical knowledge of genomics were observed. Overall attitudes towards WGS were broadly positive. CONCLUSIONS: Providing students with intensive introductory education about WGS may help them make informed decisions about whether or not to work with their personal WGS data in an educational setting.

13.
J Community Genet ; 4(4): 469-82, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23794263

RESUMO

Patients from traditionally underrepresented communities need to be involved in discussions around genomics research including attitudes towards participation and receiving personal results. Structured interviews, including open-ended and closed-ended questions, were conducted with 205 patients in an inner-city hospital outpatient clinic: 48 % of participants self-identified as Black or African American, 29 % Hispanic, 10 % White; 49 % had an annual household income of <$20,000. When the potential for personal results to be returned was not mentioned, 82 % of participants were willing to participate in genomics research. Reasons for willingness fell into four themes: altruism; benefit to family members; personal health benefit; personal curiosity and improving understanding. Reasons for being unwilling fell into five themes: negative perception of research; not personally relevant; negative feelings about procedures (e.g., blood draws); practical barriers; and fear of results. Participants were more likely to report that they would participate in genomics research if personal results were offered than if they were not offered (89 vs. 62 % respectively, p < 0.001). Participants were more interested in receiving personal genomic risk results for cancer, heart disease and type 2 diabetes than obesity (89, 89, 91, 80 % respectively, all p < 0.001). The only characteristic consistently associated with interest in receiving personal results was disease-specific worry. There was considerable willingness to participate in and desire for personal results from genomics research in this sample of predominantly low-income, Hispanic and African American patients. When returning results is not practical, or even when it is, alternatively or additionally providing generic information about genomics and health may also be a valuable commodity to underrepresented minority and other populations considering participating in genomics research.

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