scholarly journals Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study (Preprint)

2020 ◽  
Author(s):  
Jianqiao Li ◽  
Margaret A Hojlo ◽  
Sampath Chennuri ◽  
Nitin Gujral ◽  
Heather L Paterson ◽  
...  
Keyword(s):  
Online Survey ◽  
Phenotypic Variability ◽  
Genetic Disorders ◽  
Self Report ◽  
Rare Disorders ◽  
Survey Tool ◽  
Affected Person ◽  
Number Variation ◽  
Survey Results ◽  
Variable Presentation

BACKGROUND 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use a patient “self-phenotyping” survey to collect data directly from patients to further characterize the phenotypes of 16p13.11 microduplication syndrome. OBJECTIVE This study aimed to (1) discover self-identified phenotypes in 16p13.11 microduplication syndrome that have been underrepresented in the scientific literature and (2) demonstrate that self-phenotyping tools are valuable sources of data for the medical and scientific communities. METHODS As part of a large study to compare and evaluate patient self-phenotyping surveys, an online survey tool, Phenotypr, was developed for patients with rare disorders to self-report phenotypes. Participants with 16p13.11 microduplication syndrome were recruited through the Boston Children's Hospital 16p13.11 Registry. Either the caregiver, parent, or legal guardian of an affected child or the affected person (if aged 18 years or above) completed the survey. Results were securely transferred to a Research Electronic Data Capture database and aggregated for analysis. RESULTS A total of 19 participants enrolled in the study. Notably, among the 19 participants, aggression and anxiety were mentioned by 3 (16%) and 4 (21%) participants, respectively, which is an increase over the numbers in previously published literature. Additionally, among the 19 participants, 3 (16%) had asthma and 2 (11%) had other immunological disorders, both of which have not been previously described in the syndrome. CONCLUSIONS Several phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes.

scholarly journals Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

10.2196/21023 ◽  
2021 ◽  
Vol 23 (3) ◽  
pp. e21023
Author(s):  
Jianqiao Li ◽  
Margaret A Hojlo ◽  
Sampath Chennuri ◽  
Nitin Gujral ◽  
Heather L Paterson ◽  
...  
Keyword(s):  
Online Survey ◽  
Phenotypic Variability ◽  
Genetic Disorders ◽  
Self Report ◽  
Rare Disorders ◽  
Survey Tool ◽  
Affected Person ◽  
Number Variation ◽  
Survey Results ◽  
Variable Presentation

Background 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use a patient “self-phenotyping” survey to collect data directly from patients to further characterize the phenotypes of 16p13.11 microduplication syndrome. Objective This study aimed to (1) discover self-identified phenotypes in 16p13.11 microduplication syndrome that have been underrepresented in the scientific literature and (2) demonstrate that self-phenotyping tools are valuable sources of data for the medical and scientific communities. Methods As part of a large study to compare and evaluate patient self-phenotyping surveys, an online survey tool, Phenotypr, was developed for patients with rare disorders to self-report phenotypes. Participants with 16p13.11 microduplication syndrome were recruited through the Boston Children's Hospital 16p13.11 Registry. Either the caregiver, parent, or legal guardian of an affected child or the affected person (if aged 18 years or above) completed the survey. Results were securely transferred to a Research Electronic Data Capture database and aggregated for analysis. Results A total of 19 participants enrolled in the study. Notably, among the 19 participants, aggression and anxiety were mentioned by 3 (16%) and 4 (21%) participants, respectively, which is an increase over the numbers in previously published literature. Additionally, among the 19 participants, 3 (16%) had asthma and 2 (11%) had other immunological disorders, both of which have not been previously described in the syndrome. Conclusions Several phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes.

scholarly journals Perceptions of Rheumatologists on Diagnosis of Psoriatic Arthritis in China

2021 ◽  
Vol 12 ◽  
Author(s):  
Miao Chen ◽  
Hua Zhang ◽  
Zhiyong Chen ◽  
Sheng-Ming Dai
Keyword(s):  
Psoriatic Arthritis ◽  
Online Survey ◽  
Good Practice ◽  
Diagnostic Delay ◽  
Nationwide Survey ◽  
Self Report ◽  
Full Time ◽  
Survey Tool ◽  
Significant Difference ◽  
Practice Habits

ObjectiveHigh prevalence of undiagnosed psoriatic arthritis (PsA) and prolonged diagnostic delay are key troubles in the appropriate management of PsA. To analyze the possible causes for this phenomenon, a web-based nationwide survey was conducted to investigate rheumatologists’ perceptions on PsA diagnosis in China.MethodsThe electronic questionnaire consisting of 38 questions were designed by an expert panel and distributed with the online survey tool Sojump, which is a professional online survey platform. The completed questionnaires by real-name rheumatologists were collected.ResultsA total of 1594 valid questionnaires were included. More than half of Chinese rheumatologists reported it was challenging to make a diagnosis of PsA. The four major challenges were “Difficulties in identification of atypical or hidden psoriasis”, “Absence of diagnostic biomarkers”, “No active self-report of history or family history of psoriasis” and “Various musculoskeletal manifestations”. In diagnosing PsA, minor participants had incorrect knowledge of inflammatory arthropathy (13.7%), acute phase reactant (23.8%), and rheumatoid factor (28.7%). There were no significant differences in the knowledge of PsA and practice habits in diagnosing PsA between modern western medicine (WM)- and traditional Chinese medicine (TCM)-rheumatologists. The part-time rheumatologists were not as good as full-time rheumatologists in diagnosing PsA.ConclusionsAbout three quarters of Chinese rheumatologists are familiar with the elements in PsA diagnosis and have good practice habits in diagnosing PsA. Four main challenges in making PsA diagnosis are revealed. There was no significant difference in the knowledge of PsA between WM- and TCM-rheumatologists.

scholarly journals Video chat technology to remotely quantify dietary, supplement and medication adherence in clinical trials

2016 ◽  
Vol 116 (9) ◽  
pp. 1646-1655 ◽  
Author(s):  
Courtney M. Peterson ◽  
John W. Apolzan ◽  
Courtney Wright ◽  
Corby K. Martin
Keyword(s):  
Medication Adherence ◽  
Online Survey ◽  
Self Report ◽  
Rater Agreement ◽  
Monitoring Methods ◽  
Video Chat ◽  
Pill Counts ◽  
Survey Results ◽  
Adherence Monitoring ◽  
Study Participants

AbstractWe conducted two studies to test the validity, reliability, feasibility and acceptability of using video chat technology to quantify dietary and pill-taking (i.e. supplement and medication) adherence. In study 1, we investigated whether video chat technology can accurately quantify adherence to dietary and pill-taking interventions. Mock study participants ate food items and swallowed pills, while performing randomised scripted ‘cheating’ behaviours to mimic non-adherence. Monitoring was conducted in a cross-over design, with two monitors watching in-person and two watching remotely by Skype on a smartphone. For study 2, a twenty-two-item online survey was sent to a listserv with more than 20 000 unique email addresses of past and present study participants to assess the feasibility and acceptability of the technology. For the dietary adherence tests, monitors detected 86 % of non-adherent events (sensitivity) in-person v. 78 % of events via video chat monitoring (P=0·12), with comparable inter-rater agreement (0·88 v. 0·85; P=0·62). However, for pill-taking, non-adherence trended towards being more easily detected in-person than by video chat (77 v. 60 %; P=0·08), with non-significantly higher inter-rater agreement (0·85 v. 0·69; P=0·21). Survey results from study 2 (n 1076 respondents; ≥5 % response rate) indicated that 86·4 % of study participants had video chatting hardware, 73·3 % were comfortable using the technology and 79·8 % were willing to use it for clinical research. Given the capability of video chat technology to reduce participant burden and outperform other adherence monitoring methods such as dietary self-report and pill counts, video chatting is a novel and promising platform to quantify dietary and pill-taking adherence.

scholarly journals Use of Rapid Online Data Collection during a Large Community Enteric Outbreak in Toronto, Canada

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Anne Arthur ◽  
Effie Gournis ◽  
Kaitlin Bradley
Keyword(s):  
Public Health ◽  
Data Collection ◽  
Media Coverage ◽  
Online Survey ◽  
Foodborne Illness ◽  
Self Report ◽  
Survey Tool ◽  
Large Community ◽  
Exposed Population ◽  
Stomach Pain

ObjectiveTo describe the use of an online survey tool to rapidly collect data from a large community outbreak of enteric illness in Toronto, Canada.IntroductionIn the early morning of Friday January 20, 2017, Toronto Public Health (TPH) was notified of several reports of acute vomiting, diarrhea, and stomach pain/cramps among students living in residence at a post-secondary institution in Toronto, Canada. A public health investigation was initiated and it was quickly determined that a large number of students and visitors to the campus were affected. Following considerable media coverage, TPH began receiving an overwhelmingly high volume of reports from ill individuals who lived, visited, or worked at the college campus and had experienced gastrointestinal illness.MethodsGastroBusters – an established online foodborne illness reporting tool was quickly adapted to support the outbreak investigation. GastroBusters was rapidly updated to include a screening question allowing ill individuals connected with the outbreak location to self-identify and report their symptoms, onset dates and times, and food histories to TPH securely online. The necessary updates were developed, tested, and implemented in less than one hour. Ill individuals were directed to the GastroBusters website – tph.to/gastrobusters - by college administrators and through media messaging. Those who were ill and reported to TPH through other methods (e.g., by phone) were interviewed by TPH investigators to collect comparable data, which were entered by staff into an online survey that mirrored the structure of the GastroBusters questions. These two data sets were merged and descriptive analyses were conducted using MS Excel and SAS v9.2.ResultsIn total, 354 reports associated with the outbreak were received by TPH - 232 who self-reported through GastroBusters, and 122 reported through other methods who were interviewed by TPH. Use of GastroBusters allowed ill individuals to report at a time convenient to them - 204 (88%) reports were submitted outside of TPH's business hours. As well, by providing ill individuals a method to self-report, TPH was able to rapidly collect, analyze and interpret data over the weekend while minimizing use of TPH staff resources. A summary report was available on Monday January 23, 2017 by 9:00 am, describing 236 confirmed and probable cases whose data were collected via both online surveys (GastroBusters and TPH data collection tool), between Friday and Sunday evenings. These data supported the hypothesis that the source of illness for the outbreak was likely norovirus; this was later confirmed through laboratory results.ConclusionsThis investigation provides a successful example of how an existing online reporting system for foodborne illness can be used for rapid data collection during a large-scale community enteric outbreak, where the exposed population could not be easily defined and the source of illness was unknown. Advantages of using this approach included: 1) rapid and robust data collection resulting in prompt analysis, and 2) efficient use of public health resources given the volume of reports otherwise processed by a public health investigator. Moreover, the investigation coincided with a weekend when there are fewer staff available and large amounts of overtime costs would have been accrued. TPH is currently developing standards for the use of similar tools in the future.References1. Toronto [Internet]. Toronto: City of Toronto; c1998-2017. GastroBusters; [cited October 2, 2017]. Available from: tph.to/gastrobusters

scholarly journals Testing the Confluence Model Theory of Sexual Aggression

2020 ◽  
Author(s):  
Taylor Kohut ◽  
William Fisher
Keyword(s):  
Young Adult ◽  
Sexual Aggression ◽  
Online Survey ◽  
Self Report ◽  
Causal Explanations ◽  
Post Secondary ◽  
Confluence Model ◽  
Pornography Consumption ◽  
Pornography Use ◽  
Survey Results

The connection between pornography use and sexual violence remains an ongoing concern within and outside academia. The current research sought to test Confluence Model reasoning that pornography use will be most strongly related to sexual aggression among men who are high in the predisposing risk factors of hostile masculinity and impersonal sexuality. To this end, a sample of young adult (18-24 years of age) males from Mechanical Turk (N = 1,528) and two national samples of young adult Canadian males who were currently enrolled (N = 1,049) or not currently enrolled (N = 905) in post-secondary education completed self-report measures of pornography use, hostile masculinity, impersonal sexuality, and sexual aggression in an online survey. Results supported some aspects of Confluence Model theorizing but challenged others. When pornography use was operationalized with a contemporary approach that assessed use of all forms of pornography, the results did not confirm a positive relationship between pornography use and sexual aggression among men with high levels of hostile masculinity and impersonal sexuality. When operationalized as the use of pornographic magazines, a relatively uncommon contemporary form of pornography consumption, pornography use was found to be correlated with sexual aggression, and the magnitude of this association was larger among men who were high in either hostile masculinity or impersonal sexuality, depending on the sample. These discrepant findings serve as a challenge to causal explanations for previously published correlations of pornography use and sexual aggression and a warning about the non-equivalence of pornography use measures.

scholarly journals Comparison of Musculoskeletal Disorders between Pediatric Dentists and General Dentists

2021 ◽  
Vol 48 (2) ◽  
pp. 184-197
Author(s):  
Gimin Kim ◽  
Jaesik Lee ◽  
Hyunjung Kim ◽  
Soonhyeun Nam
Keyword(s):  
Back Pain ◽  
Musculoskeletal Disorders ◽  
Online Survey ◽  
Musculoskeletal Disorder ◽  
Regular Exercise ◽  
Survey Tool ◽  
Relieve Pain ◽  
Pediatric Dentists ◽  
Survey Results ◽  
General Dentists

The purpose of this study was to investigate the characteristics related to the musculoskeletal disorders in pediatric dentists and general dentists. This study was conducted based on the survey results of a total of 109 dentists who have been working for the last year. Forty - three pediatric dentists and 66 general dentists were surveyed through online survey tool. Both pediatric dentists and general dentists mainly complained of musculoskeletal disorders in the neck, shoulders, wrists, and back. Most pediatric dentists usually suffered from back pain due to their unbalanced posture while giving dental treatments. Pediatric dentists in sedative treatment felt more pain in particular part of their body, such as neck and shoulder. Regular exercise and stretching for the prevention of musculoskeletal disorder have been shown to mainly relieve pain in the back but no other parts in their body.

Does Dispositional Mindfulness Predict the Development of Grit?

2018 ◽  
Vol 39 (2) ◽  
pp. 76-87 ◽  
Author(s):  
Buaphrao Raphiphatthana ◽  
Paul Jose ◽  
Karen Salmon
Keyword(s):  
Undergraduate Students ◽  
Online Survey ◽  
Cross Sectional Study ◽  
Self Report ◽  
Dispositional Mindfulness ◽  
Cross Sectional ◽  
Report Data ◽  
Self Report Data ◽  
Acting With Awareness ◽  
Mindfulness Facets

Abstract. Grit, that is, perseverance and passion for long-term goals, is a novel construct that has gained attention in recent years ( Duckworth, Peterson, Matthews, & Kelly, 2007 ). To date, little research has been performed with the goal of identifying the antecedents of grit. Thus, in order to fill this gap in the literature, self-report data were collected to examine whether mindfulness, a mindset of being-in-the-present in a nonjudgmental way, plays a role in fostering grittiness. Three hundred and forty-three undergraduate students completed an online survey once in a cross-sectional study, and of these, 74 students completed the survey again 4.5 months later. Although the cross-sectional analyses identified a number of positive associations between mindfulness and grit, the longitudinal analysis revealed that the mindfulness facets of acting with awareness and non-judging were the most important positive predictors of grit 4.5 months later. This set of findings offers implications for future grit interventions.

Examining User Perception and Usage of Voice Search

2020 ◽  
Vol 5 (1) ◽  
pp. 40-47
Author(s):  
Ning Sa ◽  
Xiaojun (Jenny) Yuan
Keyword(s):  
Success Rate ◽  
Mobile Devices ◽  
Online Survey ◽  
Search Behavior ◽  
Mobile Technologies ◽  
User Perception ◽  
Daily Lives ◽  
Survey Results ◽  
Search Systems

AbstractWith the development of mobile technologies, voice search is becoming increasingly important in our daily lives. By investigating the general usage of voice search and user perception about voice search systems, this research aims to understand users’ voice search behavior. We are particularly interested in how users perform voice search, their topics of interest, and their preference toward voice search. We elicit users’ opinions by asking them to fill out an online survey. Results indicated that participants liked voice search because it was convenient. However, voice search was used much less frequently than keyboard search. The success rate of voice search was low, and the participants usually gave up voice search or switched to keyboard search. They tended to perform voice search when they were driving or walking. Moreover, the participants mainly used voice search for simple tasks on mobile devices. The main reasons why participants disliked voice search are attributed to the system mistakes and the fact that they were unable to modify the queries.

Advancing Women in Local Government: The Case of Illinois

Public Voices ◽  
2016 ◽  
Vol 13 (2) ◽  
pp. 89
Author(s):  
Rachel Lange ◽  
Kimberly Nelson
Keyword(s):  
Local Government ◽  
Positive Solution ◽  
Gender Gap ◽  
Family Life ◽  
Online Survey ◽  
Work Life ◽  
Time Commitment ◽  
Survey Results ◽  
Local Government Management ◽  
Professional Fields

Despite gains by women in many professional fields, the top level of local government management ranks continues to be populated primarily by man. The percentage of females serving as local government chief administrators has not increased since the 1980s. Little empirical research exists that attempts to uncover the reason for the gender gap. The purpose of this research is to identify some of the obstacles and barriers that affect a woman’s decision to advance her career in local government. Utilizing an online survey, the authors surveyed female chief administrative officers (CAOs), assistant CAOs, assistant to the CAOs, and deputy CAOs in Illinois. The survey results show that barriers such as a male dominated culture and time commitment to work life and family life are preventing females from achieving higher authority. Mentoring proves to be a positive solution to many of the barriers facing women in local government.

scholarly journals Integrating Sustainability and Lean: SLIM Method and Enterprise Game Proposed

2019 ◽  
Vol 11 (7) ◽  
pp. 2103 ◽  
Author(s):  
Ilie Tăucean ◽  
Matei Tămășilă ◽  
Larisa Ivascu ◽  
Șerban Miclea ◽  
Mircea Negruț
Keyword(s):  
Performance Indicators ◽  
Professional Training ◽  
Online Survey ◽  
Training Methods ◽  
Effective Solution ◽  
Survey Results ◽  
Education Activity ◽  
Industry And Education ◽  
The Unemployed

Sustainability and leanness are organizational approach concepts for more efficient activities and increased competitiveness. This paper presents a study and an application of the concepts of sustainability and lean, with the purpose to capitalize on the benefits of the two concepts’ tools when used together in an industry and education activity. A literature review was carried out to evaluate qualitatively and empirically the concepts of sustainability, lean, and enterprise games, and the possibility to integrate the first two concepts into a new tool applied into an enterprise game. An online survey was done to identify which tools are used within companies in the region, how and what training methods they used, and what the reported benefits are. The survey results were used to design a new tool integrated in a new enterprise game (SLIM) developed by the authors. The game was tested and validated in educational laboratory with students and actual employees from companies. The game follows the frame of an enterprise game, considering the simulation of enterprise classical functions. The game’s purpose is to improve the activity in successive rounds. A scorecard is used to fill in and compute the key performance indicators (KPIs), and a new indicator is proposed (SLIMx). Applications of the instrument/game include: students’ training in an educational laboratory; lifelong learning; professional training in companies; and professional perfection/reconversion of potential employees and the unemployed. The SLIM game was simulated in a team of 15 players over three rounds, with teachers playing the role of the supervisor. A number of possible improvements have been identified. The next step is testing it in enterprises with various fields of activity. SLIM has proven to be an effective solution to improve organizational efficiency and motivate players to gain new knowledge.

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