Disease-specific Information Research Articles

Unmet Care Needs and Related Factors of Spouses of Liver or Kidney Transplant Recipients.

This study aimed to (1) explore the unmet care needs of spouses of liver or kidney transplant recipients, (2) compare the unmet care needs, depression, and anxiety levels of transplant recipients and their spouses, and (3) identify factors related to spouses' unmet care needs. A cross-sectional study was conducted using purposive sampling from transplant outpatient departments at a medical center. Ninety-one liver or kidney transplant recipient-spouse dyads were recruited. Most unmet needs for dyads were involved in the psychological needs and health system and service needs domains. Spouses had significantly higher unmet needs, anxiety, and depression than recipients did. The significant factors related to the spouses' unmet needs included being male, having higher anxiety, and whose partners had higher unmet needs. Health care professionals must attend to the needs of both recipients and spouses. Providing disease-specific information and resources to spouses who potentially had higher unmet needs is strongly suggested.

Big data and innovative bioinformatics approaches in personalized genomic medicine

The field of human genetics has been radically changed by the introduction of massive parallel sequencing, also called next generation sequencing, approaches. Instead of studying a single gene or a few genetic variants, nowadays we can study genetic variation present in all genes and even throughout the entire human genome. For the first time in history, we can really study what makes us unique and use that to explain differences in for example disease susceptibility or response to treatment. In rare disease, genetics research is essential to identify the molecular diagnosis that provides the basis for a personalized patient management approach. It allows for more precise answers about the underlying cause and family recurrence risk, but also aids in optimizing treatment plans aimed at reducing co-morbidities and providing information about potential drugs or participation in drug trials, with an increasing number focused on gene therapy. These high-throughput sequencing technologies generate enormous amounts of data in order to assemble a genome and identify all of the variation present at different levels, from single nucleotide variations to chromosomal abnormalities. In addition, a genome sequence of a person in itself is not very useful. Value is derived from annotation of all the variation, and integration of the genome sequence with information about the patient involved (clinical information, disease-specific information, family history) as well as biological information (gene as well as variant-specific information, including population variation frequency, pathogenicity predictions, gene-expression information, etc). In this presentation, I will give an overview of the impact of genomics on the diagnosis of patients with rare developmental disorders and fertility disorders. I will highlight the importance of innovative bioinformatics approaches to detect and interpret genetic variation in a clinical context. Also, I will highlight some of the challenges that individual research and diagnostics units face in dealing with the data generated, discuss some of the ethical/privacy issues related to these approaches and discuss some of the latest genomics technologies being developed and validated.

The Economic Burden of Smoking-Attribution and Years of Life Lost due to Chronic Diseases in Mashhad, 2015-2016.

Background:Tobacco smoking is one of the most preventable causes of mortality related to noncommunicable diseases (NCDs). This study aimed to estimate the direct economic burden and years of life lost (YLL) attributable to smoking in NCDs in Mashhad, 2015–2016.Methods:Hospital-based data were utilized to calculate the economic burden of four selected diseases related to smoking. An epidemiological population-attributable risk method was used to determine the smoking-attributable fraction (SAF). Moreover, the study was conducted by data related to disease-specific expenditures and patients' information on cost and the number of mortality for estimating the YLL for each disease, population and life expectancy data, the prevalence of smoking, and the relative risk of smoking. Data analysis was performed with STATA software, version 12.Results:The total costs attributable to smoking for stroke, myocardial infarction, chronic obstructive pulmonary disease (COPD), and lung cancer were 94148, 151272, 1191396, and 574784 US Dollars, respectively (per 100000). In 2015, the YLL per deaths due to COPD were 4217 and 3522 among males and females, respectively. Furthermore, in 2016, the YLL per deaths due to the stroke in males and females were 8317 and 7563, respectively. In the same year, the highest proportion of years of potential life lost per 100000 smoking-attributable deaths belonged to COPD.Conclusions:The results of this study can be used to inform policy-makers about smoking-attributable diseases in Iran. To decrease the smoking-attributable costs, which have resulted in the spread of NCDs, policy-makers should adopt and implement effective policies regarding smoking prevention and control.

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

PurposeAccurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene–disease relationships, e.g., distinct consequences of gain-of-function versus loss-of-function variants. We hypothesized that incorporating disease-specific information would improve tool performance. MethodsWe developed a disease-specific variant classifier, CardioBoost, that estimates the probability of pathogenicity for rare missense variants in inherited cardiomyopathies and arrhythmias. We assessed CardioBoost’s ability to discriminate known pathogenic from benign variants, prioritize disease-associated variants, and stratify patient outcomes. ResultsCardioBoost has high global discrimination accuracy (precision recall area under the curve [AUC] 0.91 for cardiomyopathies; 0.96 for arrhythmias), outperforming existing tools (4–24% improvement). CardioBoost obtains excellent accuracy (cardiomyopathies 90.2%; arrhythmias 91.9%) for variants classified with >90% confidence, and increases the proportion of variants classified with high confidence more than twofold compared with existing tools. Variants classified as disease-causing are associated with both disease status and clinical severity, including a 21% increased risk (95% confidence interval [CI] 11–29%) of severe adverse outcomes by age 60 in patients with hypertrophic cardiomyopathy. ConclusionsA disease-specific variant classifier outperforms state-of-the-art genome-wide tools for rare missense variants in inherited cardiac conditions (https://www.cardiodb.org/cardioboost/), highlighting broad opportunities for improved pathogenicity prediction through disease specificity.

Forty years after Alma-Ata: primary health-care preparedness for chronic diseases in Mozambique, Nepal and Peru

ABSTRACT Background Four decades after the Alma-Ata Declaration, strengthening primary health care (PHC) remains a priority for health systems, especially in low- and middle-income countries (LMICs). Given the prominence of chronic diseases as a global health issue, PHC must include a wide range of components in order to provide adequate care. Objective To assess PHC preparedness to provide chronic care in Mozambique, Nepal and Peru, we used, as ‘tracer conditions’, diabetes, hypertension and a country-specific neglected tropical disease with chronic sequelae in each country. Methods By implementing a health system assessment, we collected quantitative and qualitative data from primary and secondary sources, including interviews of key informants at three health-system levels (macro, meso and micro). The World Health Organization’s health-system building blocks provided the basis for content analysis. Results In total, we conducted 227 interviews. Our findings show that the ambitious policies targeting specific diseases lack the support of technical, administrative and financial resources. Data collection systems do not allow the monitoring of individual patients or provide the health system with the information it requires. Patients receive limited disease-specific information. Clinical guidelines and training are either non-existent or not adapted to local contexts. Availability of medicines and diagnostic tests at the PHC level is an issue. Although medicines available through the public health care system are affordable, some essential medicines suffer shortages or are not available to PHC providers. This need, along with a lack of clear referral procedures and available transportation, generates financial issues for individuals and affects access to health care. Conclusion PHC in these LMICs is not well prepared to provide adequate care for chronic diseases. Improving PHC to attain universal health coverage requires strengthening the identified weaknesses across health-system building blocks.

The association between COVID-19 cases and deaths and web-based public inquiries

Background Corona Virus Disease 2019 (COVID-19) emerged in December 2019 and rapidly spread globally. Since there is still no specific treatment available, prevention of disease spread is crucial to manage the pandemic. Adequate public information is very important. To assess the optimal timing, the aim of this study was to investigate the association between web-based interest and new cases and deaths due to COVID-19. Methods Web-based interest for queries related to ‘coronavirus’ was assessed between 1 January and 19 June 2020, using Google Trends in Australia, Brazil, Canada, Germany, Italy, South Africa, South Korea, Spain, United Kingdom, and the United States of America. Reliability analysis of the used search terms was performed using the intraclass correlation coefficient. To investigate the association between web-based interest and new COVID-19 cases or deaths, the relative search volume was analysed for correlation with new cases and deaths. Results Reliability analysis revealed excellent reliability for COVID-19 search terms in all countries. Web-based interest peaked between 23 February and 5 April 2020, which was prior to the peak of new infections and deaths in most included countries. There was a moderate to strong correlation between COVID-19 related queries and new cases or new deaths. Conclusion Web-based interest in COVID-19 peaked prior to the peak of new infections and deaths in most countries included. Thus, monitoring public interest via Google Trends might be useful to select the optimal-timing of web-based disease-specific information and preventive measures.

S1152 A Survey Assessing Lifestyle Habits and Physician Counseling Among Patients With Hereditary Hemochromatosis

INTRODUCTION: Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in Caucasians, characterized by inappropriate dietary iron absorption. Physician counseling is important, as lifestyle habits including alcohol use, red meat consumption, and vitamin-C and iron intake may affect ferritin levels, and first degree family members of patients with HH should receive screening. The goal of this study was to assess lifestyle habits and physician counseling among patients with HH. METHODS: This was a survey study among patients evaluated at a dedicated clinic for HH at a tertiary medical center. A survey was created assessing demographic information, disease specific information, lifestyle habits, and physician counseling of patients with HH, and emailed to the study participants. Continuous variables were summarized with the sample mean and standard deviation. Categorical variables were summarized with number and percentage of patients. RESULTS: The survey was emailed to 379 patients previously evaluated in HH clinic, with 101 (26.6%) survey responses, of which 73 (72%) reported a diagnosis of HH. The mean age of diagnosis was 48.5, 41% of patients reported symptoms from HH, and the mean duration of symptoms was 11.9 years (Table 1). The most bothersome symptoms were joint pain (43.3%) and extreme fatigue (30.0%). Notably, 50% and 37% of patients reported red meat consumption and alcohol use respectively on a more than weekly basis (Table 2). 38.9% of participants reported taking a vitamin C supplement. Among patients with children and siblings, physicians failed to recommend HH screening 15.3% and 21.2% of the time respectively (Table 3). CONCLUSION: This is the first study to our knowledge reporting lifestyle habits and physician counseling among patients with HH. Despite the association between alcohol and the clinical expression of HH, regular alcohol use is common in 37% of patients. Not all patients receive counseling on important topics such as dietary habits or the screening of first degree family members for HH, which have important implications for the long term management and early detection of this disease.Table 1.: Disease characteristics among patients with hereditary hemochromatosisTable 2.: Lifestyle habits among patients with hereditary hemochromatosisTable 3.: Physician counseling of patients with hereditary hemochromatosis

Factors influencing quality of life of Asian breast cancer patients and their caregivers at diagnosis: perceived medical and psychosocial needs.

We aimed to examine the relative importance of medical and psychosocial needs of Asian breast cancer patients and their caregivers, and to identify the determinants of quality of life (QoL) at the time of diagnosis. This is a prospective observational study of the perceived needs and QoL of 99 dyads of breast cancer patients and their caregivers at diagnosis. A self-administered questionnaire was used to measure the perceived importance of medical and psychosocial support needs. Short Form-36 health survey (SF-36) version 2 was used to measure QoL. We also collected patient and caregiver demographic profiles and disease-specific information. Descriptive analysis of perceived needs was performed. SF-36 scores for eight domains and composite scores were calculated. Bivariate analysis and linear regression were performed to identify significant independent predictors of QoL of patients and caregivers. The mean ages of the patients and caregivers were 56.5 years and 51.7 years, respectively. To have family around (73%), prompt information about treatment and treatment options, including side effects (71%), and prompt treatment for side effects (71%) were the top three needs among patients and their caregivers. Supportive nurses and prompt treatment for side effects positively improved patients' social functioning and bodily pain scores. Stage of disease, age, education and ethnicity also influenced QoL. Only the presence of chronic disease influenced caregivers' physical functioning and role-physical scores. Patients and caregivers have similar perceptions of needs at diagnosis. A supportive healthcare team can positively influence patients' QoL, highlighting the importance of tailoring support according to needs.

Implementation of Breast Specific Radiotherapy Follow-Up Care Pamphlet

Patients require various information at the end of their radiotherapy (RT) treatment as they transition to the next phase of survivorship. Moreover, patients with different cancer diagnoses may benefit from disease-specific information. At our institution, a radiation therapist (RTT) provides patients with a short summary of post-treatment education together with a general post-treatment education pamphlet 1 week prior to the completion of RT. The pamphlet includes a collection of questions that patients should ask their attending radiation oncologist (RO) or team as part of their discharge care plan during their last review clinic appointment. However, some non-specific questions may seem irrelevant to breast RT patients and take valuable time from their encounter with the ROs and RTTs. The objective of this initiative is to identify breast-site specific information and design a specific RT pamphlet to address patient needs at the time of treatment completion.

Artificial intelligence and smartphone program applications (Apps) : Relevance for dermatological practice

With responsible, safe and successful use of artificial intelligence (AI), possible advantages in the field of dermato-oncology include the following: (1) medical work can focus on skin cancer patients, (2) patients can be more quickly and effectively treated despite the increasing incidence of skin cancer and the decreasing number of actively working dermatologists and (3) users can learn from the AI results. POTENTIAL DISADVANTAGES AND RISKS OF AI USE: (1) Lack of mutual trust can develop due to the decreased patient-physician contact, (2) additional time effort will be necessary to promptly evaluate the AI-classified benign lesions, (3) lack of adequate medical experience to recognize misclassified AI decisions and (4) recontacting a patient in due time in the case of incorrect AI classifications. Still problematic in the use of AI are the medicolegal situation and remuneration. Apps using AI currently cannot provide sufficient assistance based on clinical images of skin cancer. Smartphone program applications (apps) can be implemented responsibly when the image quality is good, the patient's history can be entered easily, transmission of the image and results are assured and medicolegal aspects as well as remuneration are clarified. Apps can be used for disease-specific information material and can optimize patient care by using teledermatology.

TSLP and IL-7R Variants Are Associated with Persistent Atopic Dermatitis

TSLP and IL-7R Variants Are Associated with Persistent Atopic Dermatitis

Immune-mediated inflammatory disease patients’ preferences in adverse drug reaction information regarding biologics

ABSTRACT Objectives Patient-reported outcomes (PROs) are increasingly used in studies and medical practice to obtain information on patients’ perspectives toward their treatment or disease. However, most study outcomes are primarily directed at healthcare professionals. It was aimed to obtain insight in which type of information immune-mediated inflammatory disease (IMID) patients prefer to receive after participating in the Dutch Biologic Monitor (DBM), a PRO-based prospective cohort event monitoring system focused on adverse drug reactions (ADRs). Methods A survey was conducted among DBM participants that wanted information about the results. Patients’ preferences were identified using twelve statements and rated with five-point Likert-type scales. Subgroup analyses and differences between statements were performed using Mann-Whitney U Tests. Results The survey was completed by 591 patients (response rate 67.6%). Most respondents had inflammatory rheumatic diseases (76.8%) and used adalimumab (37.2%) or etanercept (33.2%). Respondents preferred results per IMID over aggregated results (p = <0.001). Information on whether patients with similar IMIDs experience ADRs (average 4.5), which biologics are most likely to cause ADRs (4.4) and whether ADRs disappear (4.4) were most interesting. Conclusion DBM participants prefer to receive disease-specific information on ADRs that is tailored to their own biologic and IMID, including the outcome of ADRs.

Implementation of e-Puskesmas in Badung District, Bali, Indonesia

Background and purpose: Development of e-Puskesmas information system is one of the government’s efforts to improve efficiency and effectiveness of primary healthcare services. A comprehensive evaluation of e-Puskesmas implementation has not been conducted. This study aims to explore the implementation of e-Puskesmas system in Badung District from health providers’perspectives.Methods: This study was an explorative qualitative study conducted in Badung District from July to August 2019. Data collection was carried out through in-depth interviews with 14 informants who were selected purposively, consisted of managers and operators of e-Puskesmas in Badung District, Health Office and Public Health Centre (puskesmas). Semi-structured interview guidelines were developed based on the Health Metrics Network (HMN) Framework. Data were analyzed by thematic analysis. Data validation was carried out through source triangulation, member checking and peer debriefing.Results: The input of e-Puskesmas is generally sufficient in terms of policies, financing and infrastructure, but it is necessary to improve the quality and quantity of human resources, the internet network, and availability of standard operating procedure. The e-Puskesmas indicators have not accommodated the overall minimum health service standards of puskesmas, data on promotive and preventive programs, and data from private health care facilities. Data management is non optimal due to poor data completeness, breach of confidentiality and also the existence of other disease specific information system that is not integrated into the e-Puskesmas system. The quality of information produced from the system should be improved since there is lack of validity and unable to provide comprehensive information regarding health status of the community. The use and dissemination of information is limited to reporting to the health office while dissemination to the public has not been optimal.Conclusion: The implementation of e-Puskesmas in Badung District has not been optimal. Concerted efforts should be undertaken to overcome the barriers in the implementation and to develop a more effective, efficient and integrated health information system.

Abstract A28: Predictive factors for mortality after surgery alone for human papilloma virus-associated oropharynx squamous cell carcinoma: Analysis of the National Cancer Database

Abstract Objective: Assess survival outcomes after surgery alone for p16-positive/human papillomavirus (HPV)-associated oropharyngeal squamous cell carcinoma (HPV+OPSCC) using the National Cancer Database (NCDB). Background: Survival outcomes for surgery alone for HPV+OPSCC without adjuvant radiation and chemotherapy are unclear. Adjuvant treatment may be unnecessary for some cases of HPV+OPSCC, given the reliance of current guidelines on extrapolations from studies of non-HPV associated OPSCC treatment. Methods: Overall survival (OS) was analyzed for 736 HPV+OPSCC patients who underwent surgery alone from 2010-2014. We studied available risk factors for death in the NCDB. Kaplan-Meir curves and crude and adjusted hazard ratios (HR) with Cox and Firth regression modeling were used. Staging was readjusted from the American Joint Committee on Cancer 7th edition to the 8th. Results: Most patients had T1/T2 (84.7%) and N0/N1 (74.7%) disease. OS after surgery alone for pathologic stage 1 disease at 3 and 5 years was 94% and 92%, respectively (p &amp;lt; 0.001). Stage 1 patients without adverse features (nodal involvement, lymphovascular invasion [LVI], positive margins) had equivalent survival to those with adverse features (p=0.7). Multivariate analysis controlling for pathologic T stage found the following independent risk factors for death after surgery alone: N2 versus N0 disease (HR 6.3, p=0.00002), microscopic ENE (HR 2.5, p=0.06) and macroscopic ENE (HR 4.8, p&amp;lt;0.02) versus LNs without ENE. Positive margins conferred increased risk of death independent of pathologic T stage (HR 2.3, p=0.003) but was nonsignificant after adjusting for pathologic N stage (HR 1.7, p=0.07). Charlson-Deyo score, T stage, N1 disease, and LVI were not significant predictors of mortality. Kaplan-Meir OS curves were significantly worse for stage 3 versus 2 versus 1 (p&amp;lt;0.0001), for N2 versus N1 (p&amp;lt;0.0001), but not for N1 versus N0 (p=0.9), for LNs without ENE versus microscopic ENE (p&amp;lt;0.005) versus macroscopic ENE (p&amp;lt;0.001), and for positive versus negative margins (p=0.002). Conclusions: In this study, limited by the lack of data on smoking history, perineural invasion (PNI), recurrence, and disease-specific survival, HPV+OPSCC after surgery alone has a high overall survival, especially when stage 1 with pathologic N0 or N1 disease without ENE. Further studies of HPV+OPSCC patients who have refused adjuvant treatment with smoking, PNI, recurrence and disease-specific survival information are needed to evaluate the utility of surgery alone, especially for stage 1 cases with N1 disease. Citation Format: Mary Han, Gaelen B. Stanford-Moore, David W. Schoppy, William R. Ryan. Predictive factors for mortality after surgery alone for human papilloma virus-associated oropharynx squamous cell carcinoma: Analysis of the National Cancer Database [abstract]. In: Proceedings of the AACR-AHNS Head and Neck Cancer Conference: Optimizing Survival and Quality of Life through Basic, Clinical, and Translational Research; 2019 Apr 29-30; Austin, TX. Philadelphia (PA): AACR; Clin Cancer Res 2020;26(12_Suppl_2):Abstract nr A28.

MON-267 Need for Information Among Patients with Newly Diagnosed Pituitary Tumor: Possible Contributor to Patient Anxiety and Satisfaction

Introduction: Brain tumors, including benign pituitary adenomas (PA), cause high levels of anxiety and distress. Patients with PA also report high unmet needs for information, a factor correlated with anxiety. Although many factors can contribute to anxiety, condition-specific education may alleviate anxiety for these patients. Aim: To explore the patients’ experience related to discovery of a pituitary adenoma and pilot a patient education intervention to address peri-diagnostic anxiety. Method: This mixed-methods pilot study evaluated the acceptability and effectiveness of an education intervention for adults diagnosed with PA (nonfunctioning PA or prolactinoma). At their first endocrine appointment, patients were given disease-specific information verbally, reinforced with printed material. Anxiety [Generalized Anxiety Disorder (GAD)-7 and Visual Analogue Scale for Anxiety (VAS-A)], patient satisfaction (Likert 1–5), patient knowledge of pituitary tumors [patient knowledge questionnaire (PKQ)] and need for information (Likert 1–5) was measured prior, immediately after, and 1 month following appointment. Patients participated in a semi-structured phone interview designed to explore patient diagnostic experiences pre-and post- intervention and to elicit patient evaluation of the intervention. Interviews were tape-recorded, transcribed, and analyzed using qualitative methods. Results: Seventeen patients participated in the study; 15 of these completed the interview. Baseline need for information was high (4.6± 0.6). Anxiety level by VAS-A [median (IQR) was 50 (35–71) prior, 47 (21–68) immediately after and 1 month later 31 (14–44)] and GAD-7 [median value before 9 (4–13), immediately after 7 (3–13) and 1 month later 5 (3–8)] improved significantly (P < 0.01). PKQ was high at baseline (15 ± 0.4 /18) and increased (after 15.9 ± 0.4 and 1 month 15.8 ± 0.4, P=0.045). Patient satisfaction significantly improved (2.8 vs 4.6, P < 0.01). Analysis of the semi-structured interviews identified 3 main themes: (1) Communication, (2) Need for information; and (3) Impact of the diagnosis on patient experience. Patient experience in relation to each theme was reported negatively prior to the intervention and positively post-intervention. Conclusion: The diagnostic experience is challenging for patients with newly diagnosed PA and is associated with high levels of anxiety despite most patients being notified of the benign diagnosis. Although patients desire more information, patients scored highly on the baseline PKQ. The delivery of information had a significant positive impact on patient satisfaction and led to a reduction in anxiety. While these observations are not controlled, the themes identified have important clinical implications. They suggest that patient experience can be improved by a timely, streamlined diagnostic process with readily accessible information.

Impact of Patient-Centered Care on the Patient Experience in Nuclear Medicine

ObjectiveTo quantify the impact of direct patient-physician interaction within a nuclear medicine pretherapy consultation clinic on the patient experience. MethodsPatients were asked to complete a survey before and after meeting with the nuclear medicine physician. During each visit, the physician provided disease-specific information, discussed the planned therapy, answered questions, and provided tip sheets and checklists to prepare the patient for therapy. ResultsThirty-eight patients were included in the analysis. Before consultation, 17 patients (44.7%) were “somewhat” or “extremely” familiar with the term “nuclear medicine doctor,” whereas after the consultation, 33 patients (86.8%) were “somewhat” or “extremely” familiar with the term “nuclear medicine doctor” (P < 0.001). Thirteen patients (37.1%) felt they had either no understanding or a vague understanding of the therapy and no understanding of the plan for follow-up before the consultation, whereas 2 patients (5.4%) chose this response after the consultation (P < 0.001). More patients responded that they felt “generally” or “perfectly calm” toward the therapy overall after their consultation: 26 patients (68.4%) before vs 34 patients (91.9%) after consultation (P < 0.001). DiscussionPatient- and family-centered care in radiology includes direct physician participation in care delivery. In this report, we evaluate and measure the impact of our nuclear medicine pretherapy consultation clinic on the patient experience. We demonstrate significant impact of direct patient-physician encounters on patient anxiety, patient knowledge of the role of the nuclear medicine physician, and overall patient understanding of their treatment plan.

Improving data accessibility: New strategies towards implementation of a genomic data portal.

159 Background: It is now standard practice to utilize genomic profiling as a mechanism to navigate cancer patients to more effective therapies and clinical trials. Despite routine use, there is no single solution to perform these tests at most institutions, neither in-house nor external. As such, a myriad of options continue to be utilized for molecular diagnostic purposes. Significantly, lack of standardization in testing results in difficulty developing consistent mechanisms for ingesting, organizing, and accessing the data resulting from these tests. Ultimately, the result is a substantial gap in the types of studies researchers are able to perform simply due to lack of data accessibility. Methods: Typical workflows for genomic profiling do not involve a data repository such as the EMR or data warehouse for reasons including: lack of EMR ability to store genomic data, no processes for genomic profiling results to be integrated. The SKCC Cancer Informatics team at Jefferson has utilized the open source cBioPortal platform as a means of organizing, visualizing, and increasing overall access to Jefferson patient-specific genomic data at SKCC, termed the Genomic Data Portal (GDP). Results: We have developed processes for ingesting and transforming test results from multiple sources including in-house and external vendors. Once ingested, results are integrated with patient-specific clinical information from the EMR and tumor registry in order to increase the power of the data. The GDP currently houses over 1200 samples, including over 80 samples from advanced prostate cancer patients, with these numbers growing as more patients receive testing. Genomic results for each patient include gene mutation, fusion, and CNV, in addition to TMB and MSI. Clinical information drawn from the EMR and tumor registry includes demographics, overall survival, as well as disease specific information such as Gleason Score. Conclusions: The GDP has shown utility for multiple purposes including translational research studies and clinical trial feasibility and design. Importantly, this workflow can be adopted by institutions with varying technical expertise and resources, further enabling the research community.

Comprehensive Assessment of Orofacial Health and Disease Related Parameters in Adolescents with Juvenile Idiopathic Arthritis-A Cross-Sectional Study.

Background: The aim of this cross-sectional study was to investigate oral health and functional status of adolescents with juvenile idiopathic arthritis (JIA) and its possible link to disease specific parameters. Methods: Patients with JIA were recruited (November 2012–October 2014) and disease specific information was extracted from patients’ records. Oral examination included: dental findings (decayed-, missing- and filled-teeth-index (dmf-t/DMF-T)), gingival inflammation (papilla-bleeding-index (PBI)) and periodontal screening index (PSI). Functional examination followed Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Additionally, modified Helkimo’s Clinical Dysfunction Index and radiographic scoring were recorded. Results: 59 JIA patients were included. The mean dmf-t/DMF-T was 2.6. Only one patient showed no signs of gingival inflammation, while 57.6% had a maximum PSI of 2 or less. Positive functional findings were assessed clinically in more than half of the patients. Major diagnosis by RDC/TMD was osteoarthrosis. Patients with at least one positive anamnestic or clinical functional finding revealed significantly higher radiographic scores (CI = 0.440, p = 0.022). Patients with increased c-reactive-protein had a significantly higher PBI (Z = –2.118, p = 0.034) and increased radiographic scores (CI = 0.408, p = 0.043). Conclusions: Adolescents suffering from JIA show high levels of caries experience and gingival inflammation. Temporomandibular joint dysfunction is often seen in JIA patients. Consequently, special dental care programs would be recommendable.

The thyroid nodules in kids study (ThyNK study): An evaluation of clinical practice variation

PurposeThe purpose of this study was to evaluate the management of thyroid nodules in children and assess clinical practice variation (CPV) using the 2015 American Thyroid Association (ATA) guidelines as a standard. MethodsPediatric patients presenting to a tertiary care pediatric centre with a thyroid nodule from 2007 to 2017 were retrospectively analyzed. Demographic and disease specific information were collected. CPV and adherence to ATA guidelines were explored. ResultsOf 86 patient records reviewed, 47 (55%) were managed operatively (mean age 14.4, 59F:27M). Fifteen patients (17%) had malignant pathology, and 11/15 (73%) were papillary carcinoma. Of the 47 operative patients, 7 (15%) had no preoperative ultrasound, and 12 patients (26%) did not have preoperative cytology. All patients with low TSH had scintigraphy appropriately performed, and 1 patient with high/normal TSH did not have a preoperative FNA obtained. All differentiated thyroid cancers were appropriately managed with hemithyroidectomy or total thyroidectomy based on pathology. Where CPV from the guidelines was noted, it was associated with complex presentation, the surgeon's decision to proceed to surgery directly, and/or rare pathologies. ConclusionThe ATA guidelines provide a valuable framework for the management of pediatric thyroid nodules, but CPV persists given patient/disease complexity and heterogeneity. Type of StudyCase Series with No Comparison Groups. Level of EvidenceLevel VI: Case series with no comparison groups.

Survival following the placement of gastrostomy tube in patients with multiple sclerosis.

BackgroundAround a third of people with multiple sclerosis (MS) experience dysphagia. There is a need for disease-specific information on survival following placement of gastrostomy tube in people with MS.ObjectiveWe aimed to study survival following gastrostomy in patients with MS.MethodsWe reviewed medical records, home enteral feeding database and death certificates of people with MS who had gastrostomy from 2005 to 2017. Cox regression analysis was performed to identify independent predictors associated with mortality after gastrostomy.ResultsMedian survival of 53 patients with MS after gastrostomy was 21.73 months. Median duration of hospital stay after gastrostomy was 14 days (IQR 5.25, 51.5). Survival at 30 days, 3 months, 1, 2, 5 and 10 years were 100% (53/53), 98.1% (52/53), 81.1% (43/53), 54.7% (29/53), 22.4% (11/49) and 6.8% (3/44), respectively. Of 53 patients, 24 died due to respiratory tract infection. Patients who had gastrostomy tube before 50 years of age survived longer (median 28.48 months) compared with those who had the gastrostomy after age 50 years (median 17.51 months) (p = 0.040).ConclusionAround 54% of patients with MS survived two or more years following gastrostomy. Younger patients had better survival. The most frequent cause of death was respiratory infection.