Personal History Data Research Articles

Left atrial function predicts long-term outcome in hypertension and diabetes across genders

Abstract Introduction In the last decade, peak atrial longitudinal strain (PALS) was ascertained to be superior to conventional echocardiographic indices for secondary cardiovascular (CV) prevention. Purpose Standard and advanced echocardiography including PALS was evaluated to find predictors of prognosis in patients with arterial hypertension and/or diabetes for the optimization of primary CV prevention. Methods Hypertensive and/or diabetic patients >40 years old and in sinus rhythm who underwent a complete cardiological evaluation at our centre in 2008-2015 were retrospectively included. Personal history, physical examination, standard and advanced (speckle tracking) echocardiographic data were collected. The exclusion criteria were previous cv events or cardiac surgery, active pacemaker, more than moderate valvular regurgitation and/or stenosis, missing informed consent. All patients were followed up for a mean time of 11.2±1.3 years for the development of first atrial fibrillation (AF) episode, congestive heart failure hospitalization, transient ischemic attack, stroke, myocardial infarction/coronary revascularization, and CV death. Univariate and multivariable stepwise Cox regressions were performed to estimate Hazard Ratio (HR). Kaplan Meier curves (KM) compared the survival between patients with different ranges of Global PALS. Log-rank test was performed to compare the KM curves. Results This retrospective study included 292 adults (mean age 63.0±9.0 years, 50% female), among which 210 hypertensives and 67 diabetics. Mean left ventricular (LV) ejection fraction (EF) was 58.2±4.9%, mean GLS was -17.0±6.6%, mean left atrial volume was 52.9±24.9ml and mean PALS 29.7±11.1%. During follow up, 110 patients developed at least one cv event: 52 all-cause deaths, 28 CV deaths, 30 heart failure admissions, 31 first AF episode, 18 TIA/strokes, 25 myocardial infarction/revascularization. Dividing the population according to events occurrence, patients with events had similar EF (p= 0.06), while being older (65.8±9.6 vs 61.3±9.0 years) and with a worse diastolic function (E/E’ ratio 10.6±5.0 vs 8.7±3.6), LV longitudinal strain (GLS, -17.7±2.9 vs -15.7±3.4%) and PALS (34.6±9.9 vs 21.6±7.7%, all p <0.001). From univariate statistical analysis, age, E/E’, PAPs, GLS and PALS were all predictors of events, but only age (HR 1.03, p=0.03) and PALS (PALS<22.5% HR 18.99 and PALS 22.5-30 HR 7.68, both p<0.001) remained independently associated with outcome at multivariate analysis. Patients with PALS<22.5 have an event-free survival of 82.4% at 1 year, 49.8% at 5 years and 25.3% at 10 years compared to 100% at 1 year, 98.5% at 5 years and 92.5% at 10 years if PALS PALS>30% (Fig.1). The same results were confirmed in female population (Fig.2). Conclusions If confirmed by larger studies, PALS could be a quick, feasible and reliable part of cardiologic evaluation for prognostic stratification in primary CV prevention in hypertensive and/or diabetic patients.Fig. 1Fig. 2

Abstract C123: Exploring the cancer phenotype of a potential CDKN2A founder variant, c.146T>C (p.Ile49Thr), in Hispanic/Latinos of predominately Mexican ancestry

Abstract BACKGROUND: CDKN2A germline pathogenic/likely pathogenic variants (PVs) cause familial atypical multiple mole melanoma syndrome, which increases melanoma (MEL) and pancreatic cancer (PC) risk. The interpretation of genetic test results can be complicated by discordant variant classifications. CDKN2A c.146T>C (ClinVar ID:127523) is such a variant and is classified as likely pathogenic at some laboratories and as uncertain at others. Furthermore, the variant frequency in Hispanic/Latinos (H/Ls) is higher than typically expected for a PV in CDKN2A and some functional studies support that it is a PV. METHODS: Genetic counseling databases at various institutions were queried for demographic, personal and family cancer history data for individuals with known PVs in CDKN2A, with c.146T>C, and c.–2G>A (ClinVar ID:141245), a benign CDKN2A variant (BV) seen in H/Ls to serve as a comparator. The association between personal and/or family history of PC and/or MEL and demographic/clinical characteristics was tested using Fischer exact test, Chi-square test, and post-hoc test with ANOVA. Odds ratios were calculated with multinomial logistic regression. RESULTS: Overall, 219 individuals were identified; 109 with c.146T>C, 60 with other CDKN2A PVs, and 50 with the BV; 82% were female, 76% H/L, and 70% had a personal cancer history – 18% (n=27) had MEL and 10% (n=16) had PC. By variant group, 99% (c.146T>C) and 96% (BV) were H/L; 85% and 84% of Mexican ancestry, respectively. MEL was reported in 38% (n=22) of other PVs, 5% (n=5) of c.146T>C, and not at all in the BV group. Those with c.146T>C were 92% less likely to have MEL than other CDKN2A PVs (p<0.001), with no difference in mean age at diagnosis, 32y vs. 40y, respectively (p=0.71). Seven (12%) of other PVs had PC compared to 6% (n=7) of c.146T>C and 4% (n=2) of the BV. While this difference was not significant (p=0.27), the mean age at diagnosis in c.146T>C was significantly younger than other PVs (32y vs. 71y; p=0.02). When including family history, those with c.146T>C were 80% less likely to have a personal AND family history of MEL than other PVs (p<0.001), but the odds of having both a personal AND family history of PC was not significantly different (p=0.52). CONCLUSION: In the largest CDKN2A c.146T>C study (n=109) to date, MEL was significantly less frequent in individuals with this variant compared to other PVs CDKN2A. A similar, non-significant, trend was seen for PC. Notably, individuals with c.146T>C who developed PC presented at a significantly younger age than individuals with other CDKN2A PVs. The presence of c.146T>C in H/Ls of mostly Mexican ancestry suggests it may be a founder variant. While more research is needed to further refine cancer penetrance and associations, the conservative approach is to manage c.146T>C as per CDKN2A PV guidelines. Given the frequency of this variant in genomic databases, clarifying clinical impact is vital for risk- appropriate management and to reduce existing cancer disparities faced by many H/Ls. Citation Format: Daisy Hernandez, Ashlie Browning, Amber Gemmell, Karlena Lara-Otero, Mariana Niell-Swiller, Kathyrn A. Mraz, Amie Blanco, Yvonne Cardona, Emmeline Chang, Jacob Comeaux, Julie O. Culver, James M. Ford, Natalia Gutierrez, Daniella Kamara, Beth Y. Karlan, Ming Li, Jacqueline Mersch, Qi Nie, Maria L. Wei, Charité N. Ricker. Exploring the cancer phenotype of a potential CDKN2A founder variant, c.146T>C (p.Ile49Thr), in Hispanic/Latinos of predominately Mexican ancestry [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C123.

Prediction of the mechanism of suicide among Minnesota residents using data from the Minnesota violent death reporting system (MNVDRS)

BackgroundSuicide remains a major public health problem, and firearms are used in approximately half of all such incidents. This study sought to predict the occurrence of suicide specifically by firearm,...

Erectile Function in Men during the COVID-19 Pandemic

This research focused on two age groups of men (under 40 and over 40 years) and their sexual function during the COVID-19 pandemic. Somatic examinations, including the measurement of hormone levels, were conducted on all patients. The subjects also completed two questionnaires and provided personal history data. The first questionnaire covered the evaluation of erectile function, while the second assessed psychosocial trauma and stress. The results in the first group (men under 40 years of age) showed a correlation between prolactin values and erectile function score results (R = 0.54), between erectile function score results and trauma and psychosocial stress symptoms (R = 0.49) and also between prolactin values and trauma and psychosocial stress symptoms (R = 0.53). The results in the second group (men over the age of 40) showed a correlation between prolactin values and erectile function score results (R = 0.42), between erectile function score results and trauma and psychosocial stress symptoms (R = 0.54) and between free testosterone level and erectile function score results (R = 0.32). These findings support the hypothesis of a different impact of stress on the development of erectile dysfunction in men under 40 and over 40 years of age during COVID-19.

‘EXHAUSTION --- APPARENT ON MY FACE’1: FICTIONALIZATION, GRAPHIC HISTORIOGRAPHY AND DATA VISUALIZATION OF WOMEN’S EXCLUSION IN VIDYUN SABHANEY AND SHOHEI EMURA’S ‘HARD TIMES’

Deviating from commonplace comicbook superheroisms, recent comicbook graphic narrations of historical and statistical data promise to produce a humanization and visualization that apart from informing the audience about social realities of past and present manage also to stimulate an aesthetic response and emotionally attached sensitization. Based on statistical data provided in Indian Exclusion Report, 2015, ‘Hard Times’ by Vidyun Sabhaney and Shohei Emura is a comic that utilizes graphic language in order to voice concerns about struggles of working-class women and their exclusions. While it directly presents a literary and fictional narrative involving a young, widowed woman forced to work in the garments’ factory in the city and the challenges she faces in her workplace, it acts as a prologue to a graphic historical survey and data visualization of the general condition of women at workplaces and their position in the society at large. The present paper is a study of the ideologies and visual stylistics of graphic history and data visualization available in the fictional narrative in ‘Hard Times’ directed towards an attempt at identifying the processes of de-elitization of the comicbook narration and its ability to visualize multiple layers of personal and public history, historical and statistical data, the women’s spoken, unspoken, marginalized and unspeakable experiences, which often deviate from officially, academically and alphabetically mediated histories and statistics.

Quality of Life and Related Factors in Patients Undergoing Renal Replacement Therapy at the Hospital General Universitario de Ciudad Real: Cross Sectional Descriptive Observational Study.

Background: The aim of the present study was to determine the relationship between the quality of life of patients on renal replacement therapy and the Symptomatology they presented. Methods: Cross-sectional descriptive observational study: quality of life was assessed by means of the KDQOL-SF questionnaire, Symptomatology by the Palliative Care Outcome Scale-Symptoms Renal questionnaire, and sociodemographic and clinical data of patients in the Hemodialysis Unit (HD) of the Hospital General Universitario de Ciudad Real (HGUCR) by means of personal interviews and clinical history data. Results: A total of 105 patients participated in the study, 63 (60.57%) men and 42 (40.38%) female. The mean age was 62.5 dt (14.84) years. Of these, 43 (41%) were on peritoneal dialysis and 62 (59%) were on hemodialysis. The mean quality of life score was 44.89 dt (9.73). People on hemodialysis treatment presented a better quality of life than those on PD treatment: 49.66 dt (9.73) vs. 38.13 dt (9.12) t = 7.302, p < 0.001. A higher score on the symptom impairment scale (post-renal) correlated with worse scores on the total quality of life score: r = -0.807, p < 0.001. It was observed that those who improved the distress symptom scored better on the total quality of life questionnaire: 50.22 dt (8.44) vs. 46.42 dt (9.05), p < 0.001. Conclusions: The presence and management of the large number of symptoms that appear as side effects, such as distress or depression, could determine changes in some components of quality of life.

Abstract OT2-13-01: Willingness to Participate in a Trial Comparing Standard Genetic Counseling versus Genetic Counseling with Personalized Cancer Risks Estimates in Patients with Li-Fraumeni Syndrome

Abstract Background: Individuals with Li-Fraumeni Syndrome (LFS) have increased risk of developing breast cancer, sarcomas, brain tumors, leukemia, and other cancers throughout their lifetime. LFS is primarily caused by autosomal dominant germline mutations in the TP53 tumor suppressor gene. Due to the large number of cancers caused by LFS, and their variable age of presentation, each LFS family often presents very differently. Currently, standard genetic counseling for patients with LFS often involves general lifetime risk predictions for developing several primary cancers. At present, there are no standard tools available to help genetics providers obtain a personalized risk assessment for a patient with LFS based on their unique personal and family history data. To address this, the LFSPRO risk model was developed to estimate the likelihood of a proband having LFS, to provide cancer-specific risks of a first primary cancer, and to estimate risk of time to second primary cancer diagnosis by utilizing detailed personal and family history information. Specific Aims: This study aims to understand patients’ willingness to participate in a randomized trial comparing standard genetic counseling practice to personalized genetic counseling via LFSPRO risk estimates. Trial Design: Eligible patients or parents/guardians are invited via email to complete a survey assessing interest in a hypothetical clinical trial scenario where patients are randomized to receive one of two types of post-disclosure genetic counseling approaches: standard genetic counseling for TP53 results, involving generic risk predictions for developing cancers, or personalized risk information provided from LFSPRO. Following the hypothetical scenario, participants are asked about their perceived benefits and barriers to this research scenario and interest in receiving personalized risk results. Demographic information is also collected. Eligibility Criteria: Individuals who receive genetic counseling through MD Anderson Cancer Center genetics clinics specifically for TP53 genetic testing and who consent to undergo TP53 genetic testing or individuals who genetic testing already indicates a TP53 germline mutation are offered this survey. Patients must be 13 years or older to complete the survey, otherwise a parent/guardian may complete the survey on their behalf. Patients must have English fluency. Statistical methods: Descriptive statistics will be used to analyze the data and summarize the opinion of the participants. Accrual: Enrollment is set to open in July 2022. Currently, 157 patients have been identified to be invited to participate in the study. Funding: This research is supported by the Cancer Research and Prevention Institute of Texas. Contact: Jacynda Woodman-Ross, MS, CGC, The University of Texas MD Anderson Cancer Center, jawoodman@mdanderson.org Citation Format: Jacynda Woodman-Ross, Sierra O. Green, Jessica Corredor, Elissa Dodd-Eaton, Nathaniel Hernandez, Susan K. Peterson, Wenyi Wang, Banu K. Arun. Willingness to Participate in a Trial Comparing Standard Genetic Counseling versus Genetic Counseling with Personalized Cancer Risks Estimates in Patients with Li-Fraumeni Syndrome [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr OT2-13-01.

Overactive bladder with urodynamic study-induced bladder pain: An overactive bladder subtype with symptoms similar to those of interstitial cystitis/painful bladder syndrome.

Overactive bladder (OAB) and interstitial cystitis/painful bladder syndrome (IC/PBS) are 2 lower urinary tract disorders with urgency and bladder pain for diagnosis and with several other shared symptoms. Because of their overlapping symptoms, precise differential diagnosis of OAB and IC/PBS remains difficult. Thus, we characterize a subgroup of OAB with bladder pain (OAB-BP) that can be differentiated from OAB alone by urodynamic study (UDS) findings. We also further examined the clinical presentations and urodynamic parameters of OAB alone, OAB-BP, and IC/PBS. Data were collected between September 2018 and April 2019. Patients were categorized into 3 groups, OAB-alone (no bladder pain during UDS, n = 39), OAB-BP (with bladder pain during UDS, n = 35), and IC/PBS (the comparator, n = 39). Chi-square tests were used to compare OAB alone, OAB-BP, and IC/PBS with respect to their clinical presentations and urodynamic parameters. Factors with P < .05 were further analyzed through post hoc comparisons with Bonferroni adjustment. An unique subgroup of OAB patients was identified (i.e., OAB-BP), bladder pain can only be induced at maximal cytometric capacity during UDS. We also identified that the case histories and UDS parameters (e.g., low first desire, normal desire, and maximum cytometric capacity) of the OAB-BP group were more similar to those of the IC/PBS group than to those of the OAB-alone group. The OAB-BP group and the IC/PBS group reported more intrusive, longer-lasting symptoms before their final diagnoses, more extensive family history of urinary tract disorder, and more associated comorbidities (e.g., irritable bowel syndrome, and myofascial pain) than the OAB-alone group. The UDS assessment induced bladder pain in the OAB-BP group to reveal their hidden symptoms. Careful attention to patient history and sophisticated UDS evaluation may help to identify this unique OAB group.

Sistem Informasi Rekam Medis Berbasis Aplikasi Desktop untuk Daerah Pedesaan

Rural areas have several challenges that must be resolved. The availability of internet connections in the rural area is also one of the facilities that until now has not been evenly distributed. The clinical administration system is still conventional which has many weaknesses such as data processing, time management, and requires document storage space. So that the conventional system reduces the quality of clinical health services in the area. Therefore, this research was made with the method used is the waterfall model which aims to solve the challenges in making information systems. The advantage of using this method is that it is easy to use, directed, structured, and good for optimization. In this research, the information system created is in the form of a desktop application and is made using the Python programming language and MySQL database as a data storage area. This system is able to store personal data and patient history data according to the required information. In addition, this clinical information system is able to process data quickly and accurately, minimize lost data, search for the required data quickly, make patient data reports quickly and neatly, the system can be accessed by users even though there is no internet signal, and can reduce use of paper and reduce the use of space for patient data document storage.

High Prevalence of Demodex Infestation is Associated With Poor Blood Glucose Control in Type 2 Diabetes Mellitus: A Cross-Sectional Study in the Guangzhou Diabetic Eye Study.

The aim of this study was to investigate the association between type 2 diabetes mellitus (T2DM) and ocular Demodex mite infection. About 381 patients with T2DM from nearby communities were enrolled, and 163 age-matched and sex-matched nondiabetic patients from the cataract clinic were included as the control group. All subjects underwent personal history and demographic data collection, ocular examination, and lash sampling, followed by microscopic identification and counting of Demodex mites. Binocular fundus photography was performed for diabetic patients. Statistical correlation between ocular Demodex infestation and T2DM and blood glucose control status was performed. The Demodex mite infestation rate (62.5% vs. 44.8%, P < 0.001) and count [3 (0-12) vs. 2 (0-9.6), P = 0.01], especially of Demodex brevis (18.9% vs. 4.9%, P < 0.001) [0 (0-1) vs. 0 (0-0), P < 0.001], were significantly higher in the T2DM patient group than that in the control group. The ratio of Demodex brevis to Demodex folliculorum in the T2DM patient group was significantly higher than that in the control group (1:3 vs. 1:9, P < 0.001). Diabetic patients presented with more cylindrical dandruff (55.1% vs. 39.3%, P = 0.001). Ocular Demodex infestation was strongly associated with poor blood glucose control (HbA 1 c > 7%) (odds ratio = 1.82; 95% confidence interval, 1.12-2.94; P = 0.2) and female sex (odds ratio = 1.69, 95% confidence interval, 1.08-2.65, P = 0.02). No association was found between Demodex infestation and the severity of diabetic retinopathy. Patients with T2DM, especially those with poor blood glucose control, tend to have a higher prevalence of ocular Demodex infestation, suggesting that high blood glucose is a risk factor for demodicosis .

Effects of temperature and humidity on peritonsillar abscess volume of emergency patients.

Climate and temperature have long been considered in relation to human diseases and mortality. In this study, we investigated whether daily temperature and humidity and patients' personal history affect the volume of peritonsillar abscesses (PTAs). We included 52 patients with PTAs who were admitted to the emergency department of the study hospital; their computed tomography data were analyzed, and PTA volume was measured. We investigated the possible correlation between PTA volume and mean/minimum/maximum temperature and humidity. Furthermore, we obtained personal history data, including information on drinking status, smoking status, dental problems, and patients' treatment experiences at local clinics before visiting the emergency department. The mean PTA volume was 3.93 mL, which was significantly correlated with temperature differences between 1 and 2 days before hospitalization and the day of hospitalization (P < .05) and also with a lack of treatment experience at local clinics (P < .001). However, no significant correlation was noted between PTA volume and the mean/minimum/maximum temperature and humidity on the day of hospitalization (P > .05). Similar findings were obtained for drinking status, smoking status, and dental problems (P > .1). PTA volume appears to be strongly associated with temperature differences between 1 and 2 days before hospitalization and the day of hospitalization. Patients with treatment experience at local clinics exhibited substantial increases in PTA volume. Thus, an increased PTA volume may be observed in patients who visit the emergency department without any treatment experience at local clinics or from environments that differ considerably from their current environment in terms of temperature.

Understanding the Geography of Rape through the Integration of Data: Case Study of a Prolific, Mobile Serial Stranger Rapist Identified through Rape Kits.

Environmental criminological research on rape series is an understudied field due largely to deficiencies in official and publicly available data. Additionally, little is known about the spatial patterns of rapists with a large number of stranger rapes. With a unique integration and application of spatial, temporal, behavioral, forensic, investigative, and personal history data, we explore the geography of rape of a prolific, mobile serial stranger rapist identified through initiatives to address thousands of previously untested rape kits in two U.S. urban, neighboring jurisdictions. Rape kit data provide the opportunity for a more complete and comprehensive understanding of stranger rape series by linking crimes that likely never would have been linked if not for the DNA evidence. This study fills a knowledge gap by exploring the spatial offending patterns of extremely prolific serial stranger rapists. Through the lens of routine activities theory, we explore the motivated offender, the lack of capable guardianship (e.g., built environment), and the targeted victims. The findings have important implications for gaining practical and useful insight into rapists’ use of space and behavioral decision-making processes, effective public health interventions and prevention approaches, and urban planning strategies in communities subjected to repeat targeting by violent offenders.

Anemia and thrombocytopenia in HIV-positive pregnant women

BACKGROUND: During pregnancy and childbirth, anemia and thrombocytopenia are twice as common among HIV-positive women as in the general population. It has not been yet clear to what extent HIV affects the incidence of cytopenias, therefore, the correlation between the incidence and the HIV RNA level and CD4 count in HIV-positive pregnant women, as well as the role of antiretroviral therapy, requires further study.&#x0D; AIM: The aim of this study was to assess the effect of the HIV RNA level and CD4 count on the frequency of anemia and thrombocytopenia in HIV-positive pregnant women.&#x0D; MATERIALS AND METHODS: In this study, we analyzed social and demographic features, epidemiological personal history data, the frequency of pregnancy and delivery complications, and the timing of the initiation of antiretroviral therapy in 303 HIV-positive pregnant women, as well as the data of screening for HIV infection of their children. The study included 27 mother-child pairs with perinatal HIV transmission and 276 mother-child pairs without mother-to-child transmission of HIV. All pregnant women were divided into groups depending on the CD4 count and HIV RNA level. A comparative analysis of anemia and thrombocytopenia frequencies was carried out in the study groups.&#x0D; RESULTS: A direct correlation was revealed between the frequency of anemia and thrombocytopenia in HIV-positive pregnant women and markers of HIV infection: severe immunodeficiency (CD4 200 cells/l, p 0.01) and high HIV RNA levels (more than 100,000 copies / ml, p 0.01) in peripheral blood.&#x0D; CONCLUSIONS: We confirmed the high frequency of cytopenias in HIV-positive pregnant women, which exceeds the general population level. In addition, we demonstrated the effectiveness of prescribing antiretroviral therapy among women of reproductive age who planned to become pregnant or did not exclude the possibility of pregnancy (who did not use the effective methods of contraception), as a means of anemia and thrombocytopenia prevention during pregnancy.

The Association Between White Blood Cell Count and Insulin Resistance in Community-Dwelling Middle-Aged and Older Populations in Taiwan: A Community-Based Cross-Sectional Study.

BackgroundInsulin resistance (IR) is a major pathophysiological factor in the development and progression of diabetes mellitus (DM). DM is highly prevalent in Taiwan and has become one of the most common health problems in family medicine and primary care. We aimed to use white blood cell count (WBC), a common physiological parameter, to develop a simple clinical prediction rule for IR in the middle-aged and old Taiwanese population.MethodsIn this cross-sectional community-based study, the participants completed a questionnaire comprising personal and medical history data and underwent anthropometric measurements and blood sampling. IR was defined as a HOMA-IR index ≥2. Independent t-test, Mann–Whitney U test, chi-square test, Pearson's correlation test, multivariate binary logistic regression, and receiver operating characteristic curves were used to evaluate the association between the WBC count and IR.ResultsA total of 398 community-dwelling middle-aged and older persons (34.9% men) with a mean age of 64.43 ± 8.45 years were enrolled for the analysis. A significant association was identified between the WBC counts and IR, with a Pearson's correlation coefficient of 0.37 (p-value <0.001). Multivariate logistic regression revealed that WBC count (OR = 1.50; 95% CI = 1.25–1.81) was an independent risk factor for IR after adjusting for confounding variables. The area under the receiver operating characteristic curve for WBC count was 0.67, and the optimal threshold value was 5.65 1,000/uL.ConclusionA high WBC count is positively related to an increased risk of IR among middle-aged and older people in Taiwan.

Abstract OT1-20-01: Feasibility of creation of a clinico-biological database: A prospective longitudinal cohort study of metastatic breast cancer patients (epicuresein)

Abstract Background: Each year 5 to 10% of new breast cancers are diagnosed with a metastatic staging. Metastatic breast cancer remains an incurable disease despite significant therapeutic advances in both supportive cares and targeted specific therapies. The disease is in most cases characterized by the disruption of systemic homeostasis (coinciding with multiple interactive and dependent parameters). Decision algorithms rely on a number of objective and subjective parameters which allow the therapeutic decision making process to become the most individualized or adapted. Extrinsic objectives parameters are currently based on EBM (evidence-based-medicine). Intrinsic subjective parameters are taken into account in decision-making: parameters that are linked to the oncologist's assumptions, such asthe sensitivity to the theoretical efficacy of treatments and the definition of sensitivity. Currently, the clinician rationalizes these therapeutic indications according to the prediction of the treatment response from the "phenotypic classification". Cancer is a complex disease relying on numerous elements in dynamic, organized and evolving interactions, and analysis of a complex system requires a global approach. The research hypothesis is to evolve from a reductionist, disjunctive, analytical view of the characterization of cell components (genes, transcripts, proteins, etc.) to a global, systemic, conjunctive and organizational vision: distinct datasets are linked and we need to unravel these underlying links. With this project, we want to demonstrate the ability to exploit complex data in healthcare and in particular in cancer management. We chose a specific metastatic breast cancer model. Methods: Our project is to integrate massive and heterogeneous data concerning the patient’s environment, personal and familial history, clinical and biological data, imaging, histological results, multi-omics data, and microbiota analysis. These characteristics are multiple and in dynamic interaction overtime. The main objective is to prove feasibility of creation of a clinico-biological database prospectively by collecting epidemiological, socio-economic, clinical, biological, pathological, multi-omics data and to identify characteristics related to the disease progression before treatment and within 15 years after treatment start from a cohort of 300 patients with a metastatic breast cancer treated in our institution. Results: The EPICURE trial opened in December 2018. Overall recruitment as of July 2021 was 116 patients; 72% had history of adjuvant therapy and 28% had immediately metastatic disease. We created three groups: HR+/Her2- (75% of enrolment); HER2+ (12%); and triple-negative breast cancer (13%). For 89% of patients, we obtained metastatic biopsy during screening and at date 20 metastatic biopsies for recurrence. For all patients, we collected blood sample following the flow chart and microbiota at the screening. Conclusion: EPICURE is an original and longitudinal prospective biocollection of metastatic breast cancer patients. We expect answering specific scientific questions regarding metastatic disease with heterogeneous data, especially by collecting data without a priori value or links each other. Clinical trial information: NCT03958136. Funding: EPICURE is funded by the FEDER European fundings, Astra Zeneca and Lilly Citation Format: Mathilde Colombié, Pascal Jézéquel, Mathieu Rubeaux, Jean-Sebastien Frenel, Frédéric Bigot, Valérie Seegers, Mario Campone. Feasibility of creation of a clinico-biological database: A prospective longitudinal cohort study of metastatic breast cancer patients (epicuresein) [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr OT1-20-01.

Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

IntroductionBreast cancer patients with germline pathogenic variants may benefit from risk-reducing surgeries, intensive screening, and targeted cancer therapies. There is a paucity of data regarding prevalence and distribution of germline pathogenic variants in the Brazilian population. Our primary endpoint was the description of prevalence and distribution of germline pathogenic variants among breast cancer patients who underwent next-generation sequencing (NGS) panel testing. Secondary endpoint was the assessment of predictive factors of a positive test.MethodsWe analyzed NGS results, personal, and family history data from a prospectively collected cohort of breast cancer patients from August 2013 to May 2019. Exact logistic regression was used to perform multivariable analysis.ResultsOf 370 breast cancer patients, we found 59 pathogenic variants in 57 (15%) patients. Pathogenic variants were identified in BRCA1 (24%), ATM (14%), BRCA2 (10%), TP53 (8%), PALB2 (8%), CHEK2 (7%), CDH1 (3%), RAD51C (3%), MITF (2%), PMS2 (2%), RAD51D (2%), and TERT (2%). Monoallelic MUTYH pathogenic variants were found in 15%. After multivariable analysis, age of diagnosis (OR 0.89, 95% CI: 0.81–0.95, for each year increase), triple-negative subtype (OR 17.2, 95% CI: 3.74–114.72), and number of breast cancers in the family (OR 2.46, 95% CI 1.57–4.03, for each additional case) were associated with BRCA1 pathogenic variants. In the present study, a quarter of triple-negative breast cancer patients harbored a germline pathogenic variant and two-thirds of those were BRCA1 carriers.ConclusionsPrevalence and distribution of germline pathogenic variants in this Brazilian sample of breast cancer patients are mostly similar to other populations. However, there is a trend to an overrepresentation of TP53 pathogenic variants that merits confirmation in further studies. Early-onset breast cancer patients should be offered genetic counseling, particularly those with triple-negative subtype.

Encountering Cover Versions of Songs Derived from Personal Music-Listening History Data: a Design and Field Trial of Musée in Homes

Abstract We designed and implemented Musée to capture the novel experience of interpreting cover versions of music, which contain both familiar and unfamiliar musical components and are curated based on the user’s music-streaming history data. Musée is a tangible music player that enables users to explore and listen to professional or amateur covers of songs (via YouTube) in two categories: covers of songs from users’ most-liked artists and covers of users’ most-played songs. To investigate its potential value in situ, we conducted field trials of Musée in four households for 1 month. Findings showed that unfamiliar musical elements in cover music provided a sense of ‘freshness’ to past songs and helped the listener appreciate over-consumed music in new ways. In addition, restricting detailed information about cover songs that were playing helped users focus on the sound, thus priming them to infer and reflect on the original song and their memories associated with it. Our findings point to new insights for the design of interfaces that use historical personal data to expand users’ experience beyond solely revisiting prior tastes.

État de stress post-traumatique latent en psychiatrie au CHU Mohammed VI Oujda

IntroductionPosttraumatic stress disorder (PTSD) is a severe psychiatric disorder following exposure to a traumatic event. It is rarely diagnosed alone. High comorbidity has been observed between PTSD and other psychiatric disorders. ObjectivesThe purpose of this work is to evaluate the prevalence of latent PTSD in a population followed in a service of psychiatry and to describe the associated factors. Materials and methodsIt is a descriptive cross-sectional study of 300 patients treated for psychiatric disorders, using a hetero-questionnaire containing sociodemographic data, personal and family history, clinical and therapeutic data, and characteristics of the traumatic event. The MINI was used to screen for PTSD and assess suicidal risk. ResultsExposure to a traumatic event is reported by 46.7% of patients, and PTSD by 19.7%. The suicidal risk is 47.7% in the presence of this comorbidity. An ESPT is significantly associated with a schizoaffective disorder and significant suicidal risk. The recentness of the traumatic event, the presence of a state of acute stress and the absence of family psychological support are significantly associated with the occurrence of PTSD. ConclusionA significant number of patients with a psychiatric disorder have undiagnosed PTSD, thus explaining their clinical deterioration. Screening and treatment of the underlying PTSD would help to improve their management.

Biofilm Propensity of Staphylococcus Aureus Skin Isolates Is Associated With Increased Atopic Dermatitis Severity and Barrier Dysfunction in the MPAACH Pediatric Cohort

Atopic dermatitis (AD) patients are commonly colonized with Staphylococcus aureus, and staphylococcal biofilms have been described in adult AD lesions. The commensal Staphylococcus epidermidis can antagonize S aureus, but its role in AD is unclear. These investigators sought to characterize S aureus and S epidermidis colonization and biofilm propensity and determine their association with AD severity, barrier function, and epidermal gene expression in an early-life cohort of children with AD.The Mechanisms of Progression of Atopic Dermatitis to Asthma in Children (MPAACH) cohort consists of children aged 1 to 2 years in the greater Cincinnati, Ohio area with either physician-diagnosed AD or a positive parental response to all 3 questions on the Children’s Eczema Questionnaire.A total of 500 children are being enrolled. The current study was focused on the first 400 MPAACH participants. Demographic, environmental, asthma trigger, and personal and family allergy and asthma history data were compiled. AD severity was documented with the Scoring of Atopic Dermatitis scale. Topical medications were withheld the night before the visit. The biofilm propensity of staphylococcal isolates was assessed by crystal violet assays. Gene expression of filaggrin and antimicrobial alarmins S100A8 and S100A9 were measured in keratinocyte RNA extracted from skin tape strips. Staphylococcal biofilms were visualized with scanning electron microscopy.Among the entire 400 children, 26.5% had positive cultures for S aureus, whereas 71% were positive for S epidermidis. A total of 62% of staphylococcal isolates formed moderate or strong biofilms, whereas 68% of those co-colonized with both staphylococcal species exhibited strains that formed cooperative mixed-species biofilms. Scanning electron microscopy verified presence of biofilms. S aureus strains showing higher relative biofilm propensity compared with S epidermidis were associated with increased AD severity and increased lesional and nonlesional transepidermal water loss. Biofilm propensity was associated with decreased FLG expression, which otherwise encodes filaggrin, a structural protein essential to prevent water loss.Collectively, these data suggest that, although S. aureus colonization is associated with increased AD severity, it is the ability of S. aureus to form strong biofilms and the balance between biofilm-forming S. aureus and S epidermidis strains that are particularly important factors affecting AD severity and barrier dysfunction.Biofilms are important in many complex disease processes, and atopic dermatitis appears to be no exception. Whether through genetic (eg, allergy and filaggrin mutations), environmental, or other factors, the altered skin barrier predisposes to S aureus colonization. This jibes with the common clinical observation that acute AD flares are often responsive to a course of both systemic and topical antistaphylococcal therapy while aggressively employing moisturizing measures.

Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk

Hereditary cancer risk is informed by the presence of a germline gene variant more so than by family history of cancer. To assess gastric cancer risk among patients who received a diagnosis of hereditary lobular breast cancer (HLBC) owing to a germline loss-of-function variant in CDH1 by establishing prevalence of signet ring cell carcinomas among asymptomatic patients. A prospective cohort study of patients with germline CDH1 pathogenic or likely pathogenic (P/LP) variants at a quaternary medical center were enrolled between October 2017 and January 2021. Data analysis was performed in May 2021. Analyses for associations were performed for these 3 patient groups: (1) family history of breast cancer and no gastric cancer in the HLBC group; (2) family history of gastric cancer and no breast cancer in the hereditary diffuse gastric cancer (HDGC) group; and (3) family history of both breast and gastric cancers in the mixed group. Categorical variables were compared using the Pearson χ2 test. The primary end point of this study was the prevalence of occult signet ring cell carcinoma of the stomach in patients with HLBC. Personal and family medical history, genotype, and pathologic data from risk-reducing total gastrectomy and surveillance endoscopy were examined. A total of 283 patients with CDH1 P/LP variants (199 [70.3%] were female, and 259 [91.5%] were White; median age, 48 years [range, 18-81 years]) were enrolled in a prospective study of HDGC. The cohort consisted of 151 families. Patients were categorized according to family history of breast and/or gastric cancer: HLBC 15.5% [44 of 283 patients]), HDGC (16.2% [46 of 283 patients]), and mixed (68.2% [193 of 283 patients]). The HLBC group included 31 distinct families with 19 CDH1 variants; 10 of those variants were also present in the HDGC and mixed groups (52.6% [10 of 19 variants]). Nearly all of the patients with HLBC (93.8% [15 of 16 variants]) who elected for risk-reducing total gastrectomy owing to their underlying CDH1 P/LP variant harbored occult signet ring cell gastric adenocarcinoma on final pathology (median age, 50 years [range, 21-67 years]). The prevalence of occult gastric cancer among asymptomatic patients in the HDGC group was similar (94.7% [18 of 19 of variants]; P = .98). Carriers of CDH1 P/LP variants with no family history of gastric cancer exhibited high rates of occult signet ring cell gastric cancer. Germline CDH1 P/LP variants appear to have a highly penetrant gastric phenotype irrespective of family history. These data may prove useful for counseling families with CDH1 variants presumed to have HLBC.