Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series.
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ABSTRACT:
SUBMITTER: Peltekova I
PROVIDER: S-EPMC8400173 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Introduction: Autistic catatonia is an under-recognized debilitating syndrome with long-lasting negative effects for families, healthcare workers, and high-cost to the healthcare system. In this report, we describe two cases of excited catatonia in young men diagnosed with autism. Both endured a delay to diagnosis and difficulty to obtain appropriate treatment. Main concern: Each patient had a change in behavior from their baseline but with differences in severity and onset. The diagnosis in the first patient was made after only 3 months as the change was dramatic and sudden. Yet, despite a confirmed diagnosis, it was difficult to treat as the importance of M-ECT was not recognized by the clinicians. The second patient had been suffering for more than 5 years with a slow progression of worsening aggressive symptoms. The aggression was so uncontrollable that the patient required sedation, intubation and daily ECT. Both suffered from agitation, unprovoked aggression, urinary incontinence, stereotypic, and OCD behaviors and compulsive masturbation. Primary Diagnosis, intervention/outcomes: Both patients were diagnosed with autism, one high-functioning, attending high school and working a part-time job, the second low-functioning, nearly non-verbal, isolated to home and ABA school. The first patient's diagnosis of catatonia was only suspected after five psychiatric admissions and more than 20 medication trials. Lorazepam challenge was effective, he was treated with a short series of ECT but each time the treatments were tapered, the aggression returned. Ultimately, stabilized on weekly ECT. The second patient's behavior was escalating over a 5 month period, to the point, the aggression was uncontrollable. He presented to the ED under involuntary hold and the behavior could not be stabilized to the point that emergent ECT was initiated. Conclusion: Two cases of autistic catatonia diagnosed and treated within a year time span at a small community hospital indicates that this diagnosis is more common than previously recognized. We propose screening all patients with neurodevelopmental disorders with the Bush-Francis and Kanner scales to diagnose and treat them appropriately.
| S-EPMC8144290 | biostudies-literature
Project description:BACKGROUND:Currently, formal mechanisms for bioinformatics support are limited. The H3Africa Bioinformatics Network has implemented a public and freely available Helpdesk (HD), which provides generic bioinformatics support to researchers through an online ticketing platform. The following article reports on the H3ABioNet HD (H3A-HD)'s development, outlining its design, management, usage and evaluation framework, as well as the lessons learned through implementation. RESULTS:The H3A-HD evaluated using automatically generated usage logs, user feedback and qualitative ticket evaluation. Evaluation revealed that communication methods, ticketing strategies and the technical platforms used are some of the primary factors which may influence the effectivity of HD. CONCLUSION:To continuously improve the H3A-HD services, the resource should be regularly monitored and evaluated. The H3A-HD design, implementation and evaluation framework could be easily adapted for use by interested stakeholders within the Bioinformatics community and beyond.
| S-EPMC6937968 | biostudies-literature
Project description:National reports have called for the introduction of research experiences throughout the undergraduate curriculum, but practical implementation at many institutions faces challenges associated with sustainability, cost, and large student populations. We describe a novel course-based undergraduate research experience (CURE) that introduces introductory-level students to research in functional genomics in a 3-credit, multisection laboratory class. In the Pathways over Time class project, students study the functional conservation of the methionine biosynthetic pathway between divergent yeast species. Over the five semesters described in this study, students (N = 793) showed statistically significant and sizable growth in content knowledge (d = 1.85) and in self-reported research methods skills (d = 0.65), experimental design, oral and written communication, database use, and collaboration. Statistical analyses indicated that content knowledge growth was larger for underrepresented minority students and that growth in content knowledge, but not research skills, varied by course section. Our findings add to the growing body of evidence that CUREs can support the scientific development of large numbers of students with diverse characteristics. The Pathways over Time project is designed to be sustainable and readily adapted to other institutional settings.
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Project description:To evaluate the Radial Reload Stapler during laparoscopic low anterior resection (LAR) or anterior proctosigmoidectomy for rectal cancer by assessing the primary and secondary endpoints.
| 2133579 | ecrin-mdr-crc
Project description:Error estimation for differential protein quantification by label-free shotgun proteomics is challenging due to the multitude of error sources, each contributing uncertainty to the final results. We have previously designed a Bayesian model, Triqler, to combine such error terms into one combined quantification error. Here we present an interface for Triqler that takes MaxQuant results as input, allowing quick reanalysis of already processed data. We demonstrate that Triqler outperforms the original processing for a large set of both engineered and clinical/biological relevant data sets. Triqler and its interface to MaxQuant are available as a Python module under an Apache 2.0 license from https://pypi.org/project/triqler/.
| S-EPMC8041382 | biostudies-literature
Project description:Background: Autism spectrum disorder is a neurodevelopmental disorder accompanied by weak immune system and neuroinflammation. Multiple factors contribute to etiology of autism spectrum disorder including genetic disorders, environmental substances/toxins, imbalanced immune system, encephalitis, and viral infections. Autism spectrum disorder is an incurable disease; however, it can be managed by educational and medical interventions. Human embryonic stem cell therapy has been shown to improve blood perfusion in the brain; thus, this therapy may be effective in improving motor skills, social skills, and cognition in patients with autism spectrum disorder. Method: Three pediatric patients with autism spectrum disorder were administered human embryonic stem cell therapy. Their treatment plan comprised 3 to 4 therapy sessions (T1, T2, T3, T4) that were 4 to 6 weeks in length, with 4- to 8-month gap phases separating each therapy session. Results: The patients showed improvements in eye coordination, writing, balancing, cognition, and speech and showed reduced hypersensitivity to noises and smells. Conclusion: The use of human embryonic stem cell therapy may be a safe and effective treatment for patients with autism spectrum disorder. Studies with larger sample sizes are needed to support the use of human embryonic stem cell therapy in this patient population.
| S-EPMC5451033 | biostudies-literature
Project description:Objective: The accurate evaluation of outcomes at a personalized level in patients with intracerebral hemorrhage (ICH) is critical clinical implications. This study aims to evaluate how machine learning integrates with routine laboratory tests and electronic health records (EHRs) data to predict inpatient mortality after ICH. Methods: In this machine learning-based prognostic study, we included 1,835 consecutive patients with acute ICH between October 2010 and December 2018. The model building process incorporated five pre-implant ICH score variables (clinical features) and 13 out of 59 available routine laboratory parameters. We assessed model performance according to a range of learning metrics, such as the mean area under the receiver operating characteristic curve [AUROC]. We also used the Shapley additive explanation algorithm to explain the prediction model. Results: Machine learning models using laboratory data achieved AUROCs of 0.71-0.82 in a split-by-year development/testing scheme. The non-linear eXtreme Gradient Boosting model yielded the highest prediction accuracy. In the held-out validation set of development cohort, the predictive model using comprehensive clinical and laboratory parameters outperformed those using clinical alone in predicting in-hospital mortality (AUROC [95% bootstrap confidence interval], 0.899 [0.897-0.901] vs. 0.875 [0.872-0.877]; P <0.001), with over 81% accuracy, sensitivity, and specificity. We observed similar performance in the testing set. Conclusions: Machine learning integrated with routine laboratory tests and EHRs could significantly promote the accuracy of inpatient ICH mortality prediction. This multidimensional composite prediction strategy might become an intelligent assistive prediction for ICH risk reclassification and offer an example for precision medicine.
| S-EPMC8761736 | biostudies-literature
Project description:The National Institutes of Health (NIH) established the Building University Infrastructure Leading to Diversity (BUILD) initiative to increase engagement and retention of undergraduates from diverse backgrounds in biomedical research. Portland State University, in partnership with ten other academic institutions, received a BUILD award and developed the BUILD EXITO (Enhancing Cross-Disciplinary Infrastructure and Training at Oregon) project. The EXITO program offers a three-year research and mentorship experience for undergraduates in biomedical, behavioral, social science, clinical, and bioengineering disciplines. The BUILD initiative also emphasizes enhancing research capacity and infrastructure through institutional change and faculty development. A key piece of EXITO's program to enhance research capacity is offering faculty an opportunity to apply for up to $50,000 of funding to carry out a one-year pilot study. We conducted two separate RFAs for this purpose, closely modeled on NIH's Small Grant Program (R03), over two years. Principal Investigators of pilot projects were encouraged to include EXITO students, or other undergraduate students, on their research teams. Students then worked on these research projects as part of EXITO's intensive mentored research program. This paper reports on methods to conduct and implement a pilot project program intended to train primarily junior faculty members to write and submit an NIH proposal and fund successful applicants to gather pilot project data to aid in applying for future proposals. We provided a step-by-step rigorous submission and review process. We provided proposal writing and revising workshops, technical support, and helped pilot project Principal Investigators (PIs) with biosketches, IRB applications, IUCUC documents, budgets, and other proposal sections. We secured at least three external (not at any BUILD EXITO institution) reviewers for each proposal. PIs revised proposals before resubmitting and receiving their final scores. Across two RFAs, we provided funds twenty PIs to conduct pilot projects; these projects included at least 21 students working on them who received mentoring in research methods and in disseminating results. This paper describes important lessons learned, including the importance of: allotting sufficient time to recruit reviewers; recruiting reviewers through a variety of sources and methods; and assisting PIs in engaging with research administration staff at Portland State University and partner institutions. Challenges included: finding an optimal timeline that was neither too compressed nor too stretched out; encouraging applicants from distant partner institutions to apply and keeping them engaged and retained through the entire process; and assisting PIs from partner institutions to efficiently utilize Portland State University's sponsored projects department if similar resources were not available at their home institutions. Our goal is to provide guidance and insights to faculty and research-administration staff at other institutions interested in replicating or adapting EXITO's program to enhance institutional research capacity.
| S-EPMC8455099 | biostudies-literature
Project description:There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results. Here, we review the return of results debate in genomics research and propose that, as for genomic studies of other medical conditions, psychiatric genomics researchers should offer findings that meet the minimum criteria stated above. Additionally, if resources allow, psychiatry researchers could consider offering to return pre-specified 'clinically valuable' findings even if not medically actionable-for instance, findings that help corroborate a psychiatric diagnosis, and findings that indicate important health risks. Similarly, we propose offering 'likely clinically valuable' findings, specifically, variants of uncertain significance potentially related to a participant's symptoms. The goal of this Perspective is to initiate a discussion that can help identify optimal ways of managing the return of results from psychiatric genomics research.
| S-EPMC5752587 | biostudies-literature
Project description:Developments in genomics research have been accompanied by a controversial ethical injunction: that researchers disclose individually relevant research results to research participants. With the explosion of genomic research on complex psychiatric conditions such as autism, researchers must increasingly contend with whether--and which results--to report. We conducted a qualitative study with researchers and participants involved in autism genomics research, including 4 focus groups and 23 interviews with parents of autistic children, and 23 interviews with researchers. Respondents considered genomic research results 'reportable' when results were perceived to explain cause, and answer the question 'why;' that is, respondents set a standard for reporting individually relevant genetic research results to individual participants that is specific to autism, reflecting the metaphysical value that genetic information is seen to offer in this context. In addition to this standard of meaning, respondents required that results be deemed 'true.' Here, respondents referenced standards of validity that were context nonspecific. Yet in practice, what qualified as 'true' depended on evidentiary standards within specific research disciplines as well as fundamental, and contested, theories about how autism is 'genetic.' For research ethics, these finding suggest that uniform and context-free obligations regarding result disclosure cannot readily be specified. For researchers, they suggest that result disclosure to individuals should be justified not only by perceived meaning but also by clarity regarding appropriate evidentiary standards, and attention to the status of epistemological debates regarding the nature and cause of disorders.
| S-EPMC2987386 | biostudies-literature