personalized health care
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2022 ◽  
Vol 3 (1) ◽  
pp. 1-28
Author(s):  
Giorgio Grani ◽  
Andrea Lenzi ◽  
Paola Velardi

Social media analytics can considerably contribute to understanding health conditions beyond clinical practice, by capturing patients’ discussions and feelings about their quality of life in relation to disease treatments. In this article, we propose a methodology to support a detailed analysis of the therapeutic experience in patients affected by a specific disease, as it emerges from health forums. As a use case to test the proposed methodology, we analyze the experience of patients affected by hypothyroidism and their reactions to standard therapies. Our approach is based on a data extraction and filtering pipeline, a novel topic detection model named Generative Text Compression with Agglomerative Clustering Summarization ( GTCACS ), and an in-depth data analytic process. We advance the state of the art on automated detection of adverse drug reactions ( ADRs ) since, rather than simply detecting and classifying positive or negative reactions to a therapy, we are capable of providing a fine characterization of patients along different dimensions, such as co-morbidities, symptoms, and emotional states.


2021 ◽  
Vol 43 (3) ◽  
pp. 2189-2198
Author(s):  
Abigail Ferreira ◽  
Rui Lapa ◽  
Nuno Vale

Gemcitabine is a nucleoside analog effective against several solid tumors. Standard treatment consists of an intravenous infusion over 30 min. This is an invasive, uncomfortable and often painful method, involving recurring visits to the hospital and costs associated with medical staff and equipment. Gemcitabine’s activity is significantly limited by numerous factors, including metabolic inactivation, rapid systemic clearance of gemcitabine and transporter deficiency-associated resistance. As such, there have been research efforts to improve gemcitabine-based therapy efficacy, as well as strategies to enhance its oral bioavailability. In this work, gemcitabine in vitro and clinical data were analyzed and in silico tools were used to study the pharmacokinetics of gemcitabine after oral administration following different regimens. Several physiologically based pharmacokinetic (PBPK) models were developed using simulation software GastroPlus™, predicting the PK parameters and plasma concentration–time profiles. The integrative biomedical data analyses presented here are promising, with some regimens of oral administration reaching higher AUC in comparison to the traditional IV infusion, supporting this route of administration as a viable alternative to IV infusions. This study further contributes to personalized health care based on potential new formulations for oral administration of gemcitabine, as well nanotechnology-based drug delivery systems.


2021 ◽  
Vol 7 (25) ◽  
pp. eabf5695
Author(s):  
Sangyul Baik ◽  
Jihyun Lee ◽  
Eun Je Jeon ◽  
Bo-yong Park ◽  
Da Wan Kim ◽  
...  

Recent advances in bioinspired nano/microstructures have received attention as promising approaches with which to implement smart skin-interfacial devices for personalized health care. In situ skin diagnosis requires adaptable skin adherence and rapid capture of clinical biofluids. Here, we report a simple, all-in-one device consisting of microplungers and hydrogels that can rapidly capture biofluids and conformally attach to skin for stable, real-time monitoring of health. Inspired by the male diving beetle, the microplungers achieve repeatable, enhanced, and multidirectional adhesion to human skin in dry/wet environments, revealing the role of the cavities in these architectures. The hydrogels within the microplungers instantaneously absorb liquids from the epidermis for enhanced adhesiveness and reversibly change color for visual indication of skin pH levels. To realize advanced biomedical technologies for the diagnosis and treatment of skin, our suction-mediated device is integrated with a machine learning framework for accurate and automated colorimetric analysis of pH levels.


Rheumatology ◽  
2021 ◽  
Author(s):  
Yu Toyoda ◽  
Yusuke Kawamura ◽  
Akiyoshi Nakayama ◽  
Hirofumi Nakaoka ◽  
Toshihide Higashino ◽  
...  

Abstract Objectives Gout, caused by chronic elevation of serum uric acid levels, is the commonest form of inflammatory arthritis. The causative effect of common and rare variants of ATP-binding cassette transporter G2 (ABCG2/BCRP) on gout risk has been studied, but, little attention has been paid to the effect of common (rs121907892, p. W258X) and rare variants of urate transporter 1 (URAT1/SLC22A12) on gout, despite dysfunctional variants of URAT1 having been identified as pathophysiological causes of renal hypouricemia. Methods To address this important but overlooked issue, we investigated the effects of these URAT1 variants on gout susceptibility, using targeted exon sequencing on 480 clinically-defined gout cases and 480 controls of Japanese male in combination with a series of functional analyses of newly-identified URAT1 variants. Results Our results show that both common and rare dysfunctional variants of URAT1 markedly decrease the risk of gout (OR 0.0338, reciprocal OR 29.6, p = 7.66 × 1 0 −8). Interestingly, we also found that the URAT1-related protective effect on gout eclipsed the ABCG2-related causative effect (OR 2.30 – 3.32). Our findings reveal only one dysfunctional variant of URAT1 to have a substantial anti-gout effect, even in the presence of causative variants of ABCG2, a “gout gene”. Conclusion Our findings provide a better understanding of gout/hyperuricemia and its aetiology that is highly relevant to personalized health care. The substantial anti-gout effect of common and rare variants of URAT1 identified in the present study support the genetic concept of a ‘Common Disease, Multiple Common and Rare Variant’ model.


2021 ◽  
Vol 34 (13) ◽  
Author(s):  
João De Sá ◽  
João Ferreira ◽  
Ana Macedo

Introduction: Patient registries allow better evaluations of therapeutic outcomes and support personalized health care in several conditions. This study aimed to implement a local registry in a multiple sclerosis center in Portugal, in order to carry out a critical analysis of its development stages, and to perform an initial analysis of the included patients.Material and Methods: The establishment of the registry was divided in two phases – development (creation of the online platform for data entry) and implementation (recruitment of patients and retrospective and prospective collection of available information). A demographic and clinical analysis of patients was performed.Results: Neurologists and study coordinators participated in the project, accounting for a total of 1050 hours of work in the implementationphase. Amongst the 498 multiple sclerosis patients included, 72.9% were female and relapsing-remitting multiple sclerosis was the most common subtype of the disease. The most frequently prescribed drugs at diagnosis were beta interferons. Missing data in electronic health records were detected concerning the progression of disability and diagnostic tests.Discussion: The difficulties encountered could be mitigated by defining minimum elements to be included in patient records and by implementing more minimalist registries. This could reduce the time spent by healthcare professionals in collecting information, thus optimizing costs, and allowing the focus to be placed on personalized healthcare by taking advantage of the registry and its associated tools.Conclusion: Despite the amount of data collected within the scope of this study, several difficulties affected the implementation and maintenance of the registry, which could be overcome by improving future strategies.


PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0236907
Author(s):  
Hideki Tokunaga ◽  
Keita Iida ◽  
Atsushi Hozawa ◽  
Soichi Ogishima ◽  
Yoh Watanabe ◽  
...  

Identification of the population frequencies of definitely pathogenic germline variants in two major hereditary breast and ovarian cancer syndrome (HBOC) genes, BRCA1/2, is essential to estimate the number of HBOC patients. In addition, the identification of moderately penetrant HBOC gene variants that contribute to increasing the risk of breast and ovarian cancers in a population is critical to establish personalized health care. A prospective cohort subjected to genome analysis can provide both sets of information. Computational scoring and prospective cohort studies may help to identify such likely pathogenic variants in the general population. We annotated the variants in the BRCA1 and BRCA2 genes from a dataset of 3,552 whole-genome sequences obtained from members of a prospective cohorts with genome data in the Tohoku Medical Megabank Project (TMM) with InterVar software. Computational impact scores (CADD_phred and Eigen_raw) and minor allele frequencies (MAFs) of pathogenic (P) and likely pathogenic (LP) variants in ClinVar were used for filtration criteria. Familial predispositions to cancers among the 35,000 TMM genome cohort participants were analyzed to verify the identified pathogenicity. Seven potentially pathogenic variants were newly identified. The sisters of carriers of these moderately deleterious variants and definite P and LP variants among members of the TMM prospective cohort showed a statistically significant preponderance for cancer onset, from the self-reported cancer history. Filtering by computational scoring and MAF is useful to identify potentially pathogenic variants in BRCA genes in the Japanese population. These results should help to follow up the carriers of variants of uncertain significance in the HBOC genes in the longitudinal prospective cohort study.


2021 ◽  
Vol 53 (1) ◽  
pp. 58-60
Author(s):  
Cindy Schmidt ◽  
Loes Nauta ◽  
Andrew Dang

Background and Objectives: Religion and spirituality constitute aspects of diversity that physicians must respect to provide patient-centered care. By seeing patients as individuals and integrating their religious and spiritual needs into their medical care, providers can deliver personalized health care. Their needs become even more critical for the frontline providers during the COVID-19 pandemic. Most patients want their physicians to address their religious and spiritual needs when it comes to their health (eg, during isolation precautions). Despite increases in educational curricula about this integration, most physicians still do not provide this aspect of patient-centered care. Methods: In this observational study, we examined how medical students responded to a patient experiencing a religious and spiritual issue by having standardized patients (SPs) rate the students’ level of engagement with them. We also asked students to reflect on their own spirituality, in terms of their current and ideal levels of spirituality, the difference of which indicates spiritual dissonance. Medical students (n=232) completed the Spiritual Health and Life-Outcome Measure (SHALOM) questionnaire, and their SPs completed the Princess Margaret Hospital Satisfaction With Doctor Questionnaire (PSQ-MD). Results: Results indicated a significant, positive correlation between disengagement (from PSQ-MD) and transcendent spirituality dissonance (from SHALOM). Conclusions: Higher levels of disconnection from a patient case with a religious and spiritual issue (portrayed by an SP) were associated with higher levels of incongruity in medical students’ responses as to their ideal relationship with the transcendent (eg, God, Allah, peace).


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