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1.
Front Med (Lausanne) ; 8: 666554, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34485323

RESUMO

Lyme disease (also known as Lyme borreliosis) is the most common vector-borne disease in the United States with an estimated 476,000 cases per year. While historically, the long-term impact of Lyme disease on patients has been controversial, mounting evidence supports the idea that a substantial number of patients experience persistent symptoms following treatment. The research community has largely lacked the necessary funding to properly advance the scientific and clinical understanding of the disease, or to develop and evaluate innovative approaches for prevention, diagnosis, and treatment. Given the many outstanding questions raised into the diagnosis, clinical presentation and treatment of Lyme disease, and the underlying molecular mechanisms that trigger persistent disease, there is an urgent need for more support. This review article summarizes progress over the past 5 years in our understanding of Lyme and tick-borne diseases in the United States and highlights remaining challenges.

2.
Front Psychiatry ; 11: 530995, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33101072

RESUMO

BACKGROUND: N-of-1 trials are single patient, multiple crossover, and comparative effectiveness experiments. Despite their rating as "level 1" evidence, they are not routinely used in clinical medicine to evaluate the effectiveness of treatments. OBJECTIVE: We explored the potential for implementing a mobile app-based n-of-1 trial platform for collaborative use by clinicians and patients to support data-driven decisions around the treatment of insomnia. METHODS: A survey assessing awareness and utilization of n-of-1 trials was administered to healthcare professionals that frequently treat patients with insomnia at the Icahn School of Medicine at Mount Sinai in New York City. RESULTS: A total of 45 healthcare professionals completed the survey and were included in the analysis. We found that 64% (29/45) of healthcare professionals surveyed had not heard of n-of-1 trials. After a brief description of these methods, 75% (30/40) of healthcare professionals reported that they are likely or highly likely to use an app-based n-of-1 trial at least once in the next year if the service were free and easy to offer to their patients. CONCLUSIONS: An app-based n-of-1 trials platform might be a valuable tool for clinicians and patients to identify the best treatments for insomnia. The lack of awareness of n-of-1 trials coupled with receptivity to their use suggests that educational interventions may address a current barrier to wider utilization of n-of-1 trials.

3.
JMIR Res Protoc ; 9(1): e16362, 2020 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-31913135

RESUMO

BACKGROUND: N-of-1 trials promise to help individuals make more informed decisions about treatment selection through structured experiments that compare treatment effectiveness by alternating treatments and measuring their impacts in a single individual. We created a digital platform that automates the design, administration, and analysis of N-of-1 trials. Our first N-of-1 trial, the app-based Brain Boost Study, invited individuals to compare the impacts of two commonly consumed substances (caffeine and L-theanine) on their cognitive performance. OBJECTIVE: The purpose of this study is to evaluate critical factors that may impact the completion of N-of-1 trials to inform the design of future app-based N-of-1 trials. We will measure study completion rates for participants that begin the Brain Boost Study and assess their associations with study duration (5, 15, or 27 days) and notification level (light or moderate). METHODS: Participants will be randomized into three study durations and two notification levels. To sufficiently power the study, a minimum of 640 individuals must begin the study, and 97 individuals must complete the study. We will use a multiple logistic regression model to discern whether the study length and notification level are associated with the rate of study completion. For each group, we will also compare participant adherence and the proportion of trials that yield statistically meaningful results. RESULTS: We completed the beta testing of the N1 app on a convenience sample of users. The Brain Boost Study on the N1 app opened enrollment to the public in October 2019. More than 30 participants enrolled in the first month. CONCLUSIONS: To our knowledge, this will be the first study to rigorously evaluate critical factors associated with study completion in the context of app-based N-of-1 trials. TRIAL REGISTRATION: ClinicalTrials.gov NCT04056650; https://clinicaltrials.gov/ct2/show/NCT04056650. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/16362.

4.
Pac Symp Biocomput ; 24: 415-426, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30864342

RESUMO

Anonymized electronic health records (EHR) are often used for biomedical research. One persistent concern with this type of research is the risk for re-identification of patients from their purportedly anonymized data. Here, we use the EHR of 731,850 de-identified patients to demonstrate that the average patient is unique from all others 98.4% of the time simply by examining what laboratory tests have been ordered for them. By the time a patient has visited the hospital on two separate days, they are unique in 72.3% of cases. We further present a computational study to identify how accurately the records from a single day of care can be used to re-identify patients from a set of 99 other patients. We show that, given a single visit's laboratory orders (even without result values) for a patient, we can re-identify the patient at least 25% of the time. Furthermore, we can place this patient among the top 10 most similar patients 47% of the time. Finally, we present a proof-of-concept technique using a variational autoencoder to encode laboratory results into a lower-dimensional latent space. We demonstrate that releasing latentspace encoded laboratory orders significantly improves privacy compared to releasing raw laboratory orders (<5% re-identification), while preserving information contained within the laboratory orders (AUC of >0.9 for recreating encoded values). Our findings have potential consequences for the public release of anonymized laboratory tests to the biomedical research community. We note that our findings do not imply that laboratory tests alone are personally identifiable. In the attack scenario presented here, reidentification would require a threat actor to possess an external source of laboratory values which are linked to personal identifiers at the start.


Assuntos
Técnicas de Laboratório Clínico/estatística & dados numéricos , Confidencialidade , Anonimização de Dados , Informações Pessoalmente Identificáveis , Algoritmos , Biologia Computacional , Registros Eletrônicos de Saúde/estatística & dados numéricos , Humanos , Informações Pessoalmente Identificáveis/estatística & dados numéricos
5.
Cureus ; 10(4): e2452, 2018 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-29888156

RESUMO

Familial hypercholesterolemia (FH) is a genetic disease associated with persistently elevated levels of low-density lipoprotein cholesterol (LDL-C), which ultimately leads to greatly increased rates of atherosclerosis and cardiovascular disease. Atherosclerosis progression can be clinically approximated through measurement of coronary artery calcification (CAC). CAC can be measured via electron beam computed tomography (EBCT), multi-slice computed tomography (MSCT), or contrast-enhanced CT coronary angiography (CTCA). Here, we present the case of a 72-year-old man with known FH and established hypercholesterolemia who has consistently tested negative for any significant CAC.

6.
Nat Biotechnol ; 34(5): 531-8, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-27065010

RESUMO

Genetic studies of human disease have traditionally focused on the detection of disease-causing mutations in afflicted individuals. Here we describe a complementary approach that seeks to identify healthy individuals resilient to highly penetrant forms of genetic childhood disorders. A comprehensive screen of 874 genes in 589,306 genomes led to the identification of 13 adults harboring mutations for 8 severe Mendelian conditions, with no reported clinical manifestation of the indicated disease. Our findings demonstrate the promise of broadening genetic studies to systematically search for well individuals who are buffering the effects of rare, highly penetrant, deleterious mutations. They also indicate that incomplete penetrance for Mendelian diseases is likely more common than previously believed. The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies.


Assuntos
Mapeamento Cromossômico/métodos , Resistência à Doença/genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Genoma Humano/genética , Análise da Randomização Mendeliana/métodos , Criança , Pré-Escolar , Mapeamento Cromossômico/estatística & dados numéricos , Análise Mutacional de DNA/métodos , Feminino , Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Humanos , Lactente , Recém-Nascido , Masculino , Análise da Randomização Mendeliana/estatística & dados numéricos , Polimorfismo de Nucleotídeo Único/genética , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
7.
Genome Med ; 6(2): 10, 2014 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-24713084

RESUMO

BACKGROUND: Since its initiation in 2005, the Harvard Personal Genome Project has enrolled thousands of volunteers interested in publicly sharing their genome, health and trait data. Because these data are highly identifiable, we use an 'open consent' framework that purposefully excludes promises about privacy and requires participants to demonstrate comprehension prior to enrollment. DISCUSSION: Our model of non-anonymous, public genomes has led us to a highly participatory model of researcher-participant communication and interaction. The participants, who are highly committed volunteers, self-pursue and donate research-relevant datasets, and are actively engaged in conversations with both our staff and other Personal Genome Project participants. We have quantitatively assessed these communications and donations, and report our experiences with returning research-grade whole genome data to participants. We also observe some of the community growth and discussion that has occurred related to our project. SUMMARY: We find that public non-anonymous data is valuable and leads to a participatory research model, which we encourage others to consider. The implementation of this model is greatly facilitated by web-based tools and methods and participant education. Project results are long-term proactive participant involvement and the growth of a community that benefits both researchers and participants.

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