Screening For Early Detection Research Articles

Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center.

Carriers of pathogenic variants in BRCA1/2 have an elevated lifetime cancer risk warranting high-risk screening and risk-reducing procedures for early detection and prevention. We report on prevention practices among women with pathogenic BRCA variants in order to document follow through with NCCN recommendations and to identify barriers to guideline-recommended care. Our cohort included women who had genetic testing through a cancer genetic clinic and completed a 54-item questionnaire to measure socio-demographics, medical history, rates of cancer screening and risk-reducing surgery, disclosure of test results, and cancer worry. Outcomes included rates of completion of risk-reducing salpingo-oophorectomy (RRSO), risk-reducing mastectomy (RRM), and NCCN risk-reducing and age-dependent screening guidelines (version 3.2019). Multivariable logistic regression analyses were used to evaluate potential predictors of these outcomes. Of 129 evaluable women with pathogenic BRCA1/2 variants, 95 (74%) underwent RRSO and 77 (60%) had RRM, respectively, and 107 (83%) were considered adherent to NCCN guidelines. Women with a history of breast or ovarian cancer were more likely to have RRM (OR = 4.38; 95% CI 1.80-11.51; p = 0.002). Increasing age was associated with an increased likelihood of RRSO (OR = 1.05; 95% CI 1.01-1.09; p = 0.019) and decreased likelihood for RRM (OR = 0.95; 95% CI 0.92-0.99; p = 0.013). Women who had RRM were 3 times more likely to undergo RRSO (OR = 2.81; 95% CI 1.10-7.44; p = 0.025). Women who had genetic testing after June 2013 were less likely to have RRM than those tested before June 2013 (OR = 0.42; 95% CI 0.18-0.95; p = 0.040. None of the other measured factors were associated with rates of RRSO, RRM or follow through with NCCN recommendations. There was near universal (127/129) reported disclosure of genetic test results to family members, resulting in the discovery of a median of 1 relative with a pathogenic variant (range = 0-8). An evaluation of follow up practice in a cohort of women with pathogenic variants in BRCA1/2 revealed high rates of reported completion of screening and surgical risk-reducing recommendations. Educational efforts should continue to reinforce the importance of follow-through with guideline recommended care among this high-risk group.

Determinants of breast cancer among women attending oncology units in selected health facilities of Hawassa City, Sidama Region, Southern Ethiopia, 2023: case-control study.

The incidence of breast cancer (BC) is rampantly increasing in developing countries particularly Ethiopia. Unfortunately, the morbidity and mortality rates are sharply increasing, and because of this, families are suffering from socioeconomic crises. Despite this, there is limited evidence on the determinants of breast cancer in Ethiopia as well as in the study area. To identify the determinants of BC among women attending oncology units in selected hospitals in Hawassa City, Ethiopia, in 2023. A hospital-based, case-control study with 300 patients (75 cases and 225 controls) was carried out in Hawassa from June to July 2023. A simple random sampling technique was used to select cases and controls. Data were collected via pretested and structured digitally installed questionnaires with Kobo collection/smartphones. The data were exported from the server to SPSS version 27 for analysis. Descriptive analysis of univariate, bivariate, and multivariable logistic regression data was conducted to determine the associations between breast cancer incidence and independent factors. A total of 300 women participated in this study for a response rate of 100%. The mean ( ± SD) ages of the respondents were 37.2 ( ± 14.8) and 36.6 ( ± 15.1) years for the cases and controls, respectively. According to the multivariate logistic regression model, postmenopausal status [AOR: 2.49; 95% CI (1.18, 5.23)], family history of cancer [AOR: 2.33; 95% CI (1.12, 4.82)], oral contraceptives [AOR: 2.74; 95% CI (1.34, 5.99)], overweight and/or obesity [AOR: 2.29; 95% CI: (1.14, 4.59)], and consumption of solid oil [AOR: 2.36; 95% CI (1.20, 4.67)] were independently associated with BC risk. This study revealed important risk factors for BC. Therefore, women should adopt healthier lifestyles through healthy nutrition and regular exercise to reduce the risk of developing BC. In addition, early detection and regular screening are proactive approaches for detecting BC.

Empowering Lives: Navigating the Landscape of Down Syndrome Support in Saudi Arabia

This study offers an in-depth analysis of Down syndrome (DS) in Saudi Arabia, encompassing healthcare, societal integration, and policy frameworks. It assesses DS prevalence within the Saudi population against global rates and underscores the progress in prenatal diagnostics and screening for early detection. The significance of neonatal care and early intervention programs in the comprehensive development of children with DS is highlighted. The paper explores societal perceptions and efforts to increase public awareness and reduce stigma, with a particular focus on media and educational initiatives. It reviews the educational landscape for individuals with DS, touching on inclusive policies and specialized programs, and evaluates the effectiveness and obstacles of these approaches. The study also compares Saudi policies and legal protections for individuals with DS to international standards, illustrating the country’s advancements toward global norms. It examines support systems, including contributions from nonprofits, community programs, and family services, and concludes with an identification of ongoing challenges and recommendations for future enhancements. This comprehensive overview underlines the importance of a multifaceted approach to supporting individuals with DS in Saudi Arabia, aiming to enhance their quality of life and ensure their full integration into society.

Anxiety and depression symptoms in adolescents and young adults with juvenile idiopathic arthritis: results of an outpatient screening

BackgroundPrevious studies have shown that growing up with rheumatic conditions can fuel dissatisfaction and psychological distress, which in turn affects disease self-management and treatment adherence. Primary objective of this study was to estimate the prevalence of anxiety and depression symptoms in adolescents and young adults (AYA) with juvenile idiopathic arthritis (JIA) and to identify correlates of conspicuous screening results.MethodsInitiated as part of the COACH multicenter observational study, outpatients aged 12 to 21 years participating in the National Pediatric Rheumatological Database (NPRD) were prospectively screened for mental health using the Patient Health Questionnaire-9 (PHQ-9) and the Generalised Anxiety Disorder Scale-7 (GAD-7).ResultsData from 1,150 adolescents with JIA (mean age 15.6 ± 2.2 years; mean disease duration 7.2 ± 4.9 years, 69% female, 43% oligoarthritis, 26% polyarthritis) were analysed. Overall, 32.7% (n = 316) of AYA showed conspicuous screening results, of whom 30.4% reported clinically relevant suicidal or self-harm thoughts. About 19% of screened patients showed moderate to severe depressive or anxious symptoms. AYA with conspicuous screening results were older (15.8 vs. 15.2 years; p < 0.0001), more often female (81% vs. 64%; p < 0.0001) and more often overweight (25% vs. 17%; p = 0.006). They had higher disease activity (physician global assessment on NRS 0–10; 1.7 vs. 1.2; p < 0.0001), more functional limitations (CHAQ; 0.44 vs. 0.14; <0.0001) and rated their health status worse (NRS 0–10; 3.5 vs. 1.8; p < 0.0001) than AYA with inconspicuous screening results. Females (OR 2.33 [CI 1.53–3.56]; p < 0.0001), older age (OR 1.09 [CI 1.01–1.18]; p = 0.026), patients with more functional limitations (OR 3.36 [CI 1.98–5.72]; p < 0.0001), and patients with worse subjective health status (OR 1.17 [CI 1.07–1.27]; p < 0.0001) were more likely to have a conspicuous screening result. Regular sports participation was associated with a lower likelihood of conspicuous screening result (OR 0.69 [CI 0.49–0.98]; p = 0.039).ConclusionsA large-scale outpatient screening of AYA with JIA in Germany shows a high prevalence of anxiety and depression symptoms. The need for routine screening for early detection of mental health problems became apparent.

Newborn and infant hearing screening for early detection of hearing loss in Nairobi, Kenya.

Early detection of hearing loss and subsequent intervention leads to better speech, language and educational outcomes giving way to improved social economic prospects in adult life. This can be achieved through establishing newborn and infant hearing screening programs. To determine the prevalence of hearing loss in newborns and infants in Nairobi, Kenya. A cross-sectional pilot study was conducted at the National hospital and at a sub county hospital immunization clinic. A total of 9,963 babies aged 0-3 years, were enrolled in the hearing screening program through convenient sampling over a period of nine months. A case history was administered followed by Distortion Product Oto-acoustic emissions (DPOAEs) and automated auditory brainstem response (AABR) hearing screening. The screening coverage rate was 98.6% (9963/10,104). The referral rate for the initial screen was 3.6% (356/ 9,963), the return rate for follow-up rescreening was 72% (258 babies out of 356) with a lost to follow-up rate of 28% (98/356). The referral rate of the second screen was 10% (26/258). All the 26 babies referred from the second screen returned for diagnostic hearing evaluation and were confirmed with hearing loss, yielding a prevalence of 3/1000. Establishing universal newborn and infant hearing screening programs is essential for early detection and intervention for hearing loss. Data management and efficient follow-up systems are an integral part of achieving diagnostic confirmation of hearing loss and early intervention.

Abstract SY02-03: Stochastic modeling of clonal evolution in carcinogenesis

Abstract In order to develop strategies that can detect cancer earlier, we need to better understand the dynamics of cancer evolution during the human lifetime. Starting from gestation, this includes measuring both the timing of early somatic mutations that lead to clonal mosaicism as well as the growth rates of mutated clones that carry higher potential for malignant transformation. Continuous observation of this evolving clonal composition across a lifetime is not feasible, therefore mathematical models are needed to integrate data from longitudinal and cross-sectional samples and infer these dynamics. Stochastic models of clonal evolution offer such a framework and provide a means for predicting individual clone trajectories into the future. Furthermore, if measurements of evolution are to be utilized clinically for early detection and patient risk stratification, faster methods to apply these models to data are required. To this end, we derived methods using coalescent theory for single-cell DNA sequencing data that enable instantaneous estimation of the growth rate of a clone along with its confidence intervals. Our tool is available in an open source R package, cloneRate, and provides the first method for constructing valid confidence intervals of growth rates analytically without having to rely on Bayesian inference techniques and complex simulations. When applying our methods to recent datasets derived from normal and neoplastic human blood cells, we quantified increased fitness effects of multi-hit driver mutations and found that higher initial clone growth rates led to decreased time to cancer diagnosis in patients. We can also use these models to estimate other important biological parameters that are difficult to measure in vivo such as bounds for total number of hematopoietic stem cells and expansion rates in early development. Ultimately, the ability to easily and quickly parameterize clonal dynamics in individual patients will benefit future early detection efforts and screening strategies for many cancer types. Citation Format: Kit Curtius. Stochastic modeling of clonal evolution in carcinogenesis [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 2 (Late-Breaking, Clinical Trial, and Invited Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(7_Suppl):Abstract nr SY02-03.

Clinical Utility of Cytokeratins for Accurate Diagnosis of Hepatocellular Carcinoma Among Hepatitis C Virus High-Risk Patients.

Hepatocellular carcinoma (HCC) is a primary malignancy of the liver and a global health problem. It is often diagnosed at advanced stage where hopeless for effective therapies. Identification of more reliable biomarkers for early detection of HCC is urgently needed. Cytokeratins are a marker of hepatic progenitor cells and act as a key player in tumor invasion. Herein, we sought to develop a novel score based on the combination of cytokeratin 18 (CK18) and cytokeratin 19 (CK19) with routine laboratory tests for accurate detection of HCC. Serum CK18, CK 19, α-fetoprotein, albumin and platelets count were assayed in HCC patients (75), liver cirrhosis patients (55) and healthy control (20). Areas under receiving operating curve (AUCs) were calculated and used for construction on novel score. A novel score named CK-HCC = CK 19 (ng/ml)×0.001+ CK18 (ng/ml)×0.004 + AFP (U/L)×5.4 - Platelets count (×109)/L×0.003 - Albumin (g/L)×0.27-36 was developed. CK-HCC score produces AUC of 0.919 for differentiating patients with HCC from those with liver cirrhosis with sensitivity and specificity of a cut-off 1.3 (i.e., less than 1.3 the case is considered cirrhotic, whereas above 1.3 it is considered HCC. CK-HCC score could replace AFP during screening of HCV patients and early detection of HCC.

A Review on the Prevalence and Management of Colorectal Cancer

Cancer had become a common disease worldwide and cancer related death is also increasing in various parts of the world in spite of increased screening and diagnostic facilities available for early detection of cancer and availability of advanced care system. Changes in the diet and life style had led to alteration in the microenvironment of the cells leading to genetic changes and mutation. In this review, Colorectal cancer prevalence, risk factors for the development of colorectal cancer, pathogenesis, diagnosis and various treatment modalities available are discussed here.

A Review on Lung Cancer with Emphasis on Current Treatment

Cancer is a broad term that refers to more than 277 types of cancer. It is a disease that results from a variety of causes, including mutations resulting from oncogene activation, tumor suppressor gene failure, or other factors. Mutations in these genes cause abnormal cell growth. Lung cancer is one of the leading causes of cancer in the world. Lung cancer, also known as lung cancer, is a lung disease caused by the uncontrolled growth of cells in tissues. Risk factors include smoking , exposure to radon gas, asbestos, secondhand smoke, and pollution. The two types of lung cancer are small cell lung cancer (SCLS) and non-small cell lung cancer (NSCLS). Common symptoms include cough, hemoptysis, weight loss, fatigue, fever or clubbing, hypercalcemia, myasthenic syndrome (muscle fatigue), and changes. Lung cancer is classified by histological type and stage using TNM (tumor, tumour, and metastasis). Treatment depends on the type of cancer and includes surgery, radiation and chemotherapy. Long-term intake of vitamin A, vitamin D, or vitamin E does not reduce the risk of lung cancer. Consuming more vegetables and fruits will reduce the risk. There is no clear link between diet and lung cancer. Most patients with advanced NSCLC who respond to surgery are treated with adjuvant chemotherapy. Histological diagnosis can be made by sputum cytology, thoracentesis, access to lymph nodes, bronchoscopy, transthoracic needle aspiration, video-assisted thoracoscopy or thoracotomy. Initial evaluation of metastatic disease is based on history and physical examination, chest examination, computed tomography, PET scan, and clear tissue of mediastinal involvement. Despite the interest in screening among scientists and doctors, there is no major organization recommending screening for early detection of lung cancer. Smoking is still an important part of primary prevention.

Abstract 4798: MRI screening for brain metastases (BrM) versus SYMptom-directed brain imaging for patients with triple negative (TN) or HER2+ metastatic breast cancer (MBC): An ad-hoc interim analysis of a randomized phase II pilot study

Abstract Background: Patients with HER2+ or TN MBC are at high risk of developing BrM, but the role of MRI screening for early detection of asymptomatic BrM has not yet been established. Methods: We conducted a multicentre phase II pilot study, which randomized patients with TN or HER2+ MBC to 1 year of BrM screening (contrast enhanced brain MRI at baseline, 4, 8, and 12 months) versus a control arm of symptom directed brain imaging (MRI only if symptoms of BrM develop). The primary goal was to determine the feasibility of a future randomized trial of BrM screening versus symptom-directed imaging in this patient population. Key inclusion criteria were age ≥18; TN MBC diagnosed ≤12 weeks prior to study entry or HER2+ MBC with no restrictions regarding time of diagnosis; no symptoms of BrM or known asymptomatic BrM; ECOG ≥ 1 and no MRI contraindications. Overall (EORTC QLQ BN20) and neurologic-specific (FACT-BR tools) quality-of-life as well as cancer-related anxiety (NCI PRO-CTCAE) were assessed at baseline, 6 and 15 months. Criteria rendering a future trial “not feasible” were defined a-priori as: &amp;lt;30% of eligible patients enroll in the study, &amp;lt;50% complete the study protocol, and/or &amp;gt;50% of patients allocated to the control arm during the 1 year study period are screened for asymptomatic BrM with CT or MRI. Results: Between 2018 and 2023, 44 patients from 3 participating centres enrolled in the study. Thirty-five participants (80%) had HER2+ and 9 (20%) had TN MBC. Of the 22 patients randomized to each of the study arms; 3 patients (8%) in each arm withdrew prior to study completion. Reasons for withdrawal included claustrophobia (n=3) or discontent with their randomised arm (n=3) or follow-up requirements (n=1). Metrics regarding the proportion of eligible patients who enrolled in the study were only collected from the Sunnybrook Odette Cancer Centre site; of 91 patients approached, 38 (42%) enrolled in the study. Within the 12-month study period, the incidence of BrM among patients in the screening arm was n=3 (14%) versus n=4 (18%) in the control arm. To-date among patients in the study arm, 11 (50%) completed the 12-month screening protocol, 5 (23%) remain on study and 6 (27%) did not complete the protocol due to either death or early study withdrawal. Among patients in the control arm, 10 (45%) completed 12-month follow-up, 4 (18%) remain on study and 8 (36%) did not complete follow-up due to either death or early study withdrawal. In total, 13 patients (59%) in the control arm had brain imaging, 4 in the absence of neurological symptoms. Conclusion: A large randomized trial to investigate the utility of MRI-based surveillance for asymptomatic detection of BrM in the proposed patient population is likely feasible, although episodic brain imaging in the control arm was common. Analysis of patient reported outcomes is ongoing. Citation Format: Katarzyna Joanna Jerzak, Megan Shum, Gregory Pond, Orit Freedman, Gursimran Chandhoke, Tatiana Conrad, Priscilla Brastianos, Gregory Stanisz, Arjun Sahgal, Ellen Warner. MRI screening for brain metastases (BrM) versus SYMptom-directed brain imaging for patients with triple negative (TN) or HER2+ metastatic breast cancer (MBC): An ad-hoc interim analysis of a randomized phase II pilot study [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 4798.

Abstract 3469: Exploring the impact of a giant inflatable colon on the level of awareness, knowledge, and intent for colorectal cancer screening among men attending two state fairs in the Midwest

Abstract Purpose: This study aimed to evaluate the influence of an interactive inflatable colon as an effective educational tool to increase colorectal cancer (CRC) awareness, knowledge, and screening intention among men attending the Wisconsin (WI) and Minnesota (MN) state fairs. Methods: Eligible study participants were self-identified men aged 18-75 who spoke English, were residents of WI or MN, and able to read in English. The study was employed during the final operating weekend of both the 2023 WI State Fair (August 11-13) and the MN State Fair (September 1-3). Eligible participants completed: (1) a pre-survey, (2) an unguided tour of the inflatable “Super Colon”, and then (3) a post-survey. The primary outcomes of interest were change in awareness (two items), knowledge (four items), and behavioral intent to obtain CRC screening (one item) from pre- to post-survey. Chi-square tests were used to examine study site differences and to explore the association between demographics and behaviors (awareness, knowledge, intentions) before entry to the Super Colon. McNemar’s test were employed to test if there were significant differences in the distributions from pre- to post-survey. Results: A total of 940 eligible participants were included in the study sample. The men self-identified their race/ethnicity as Non-Hispanic (NH) White (72%), followed by NH other (12%), NH Black (9%), and Hispanic (8%). Race and ethnicity significantly varied by study site (&amp;lt;.0001) with participants from WI more likely being members of racial/ethnic groups that are often medically underserved (33% vs. 24% in MN). Only 13% of participants had walked through an inflatable colon before. Of those who were screening-age appropriate (age 45 or older), 89% had been screened for CRC previously. With the exception of one question, baseline CRC knowledge was relatively high among our study sample. Interestingly, having higher confidence of their awareness level was inversely associated with higher knowledge. As a result of touring the Super Colon, a significant improvement in confidence in individuals’ knowledge of CRC (&amp;lt;.0001), knowledge regarding a colon polyp (&amp;lt;.0001), and intentions to be screened in the future (&amp;lt;.0001) were observed. Most participants (95%) agreed that the Super Colon is an effective educational tool to teach people about CRC. Conclusion: Since both encouraging CRC screening uptake and increasing research study participation among men can be a difficult task, these findings emphasize the crucial role of community-based educational initiatives in achieving these goals. Our findings affirm how the three-dimensional interior of the Super Colon is as an effective educational tool for promoting CRC early detection screening behaviors among men and increasing their awareness. Citation Format: Ami E. Sedani, Kelly K. Rifelj, Malcolm S. Bevel, Cordero L. McCall, Mckenzi Rogalla, Lisa Laliberte, Kiara Ellis, Rebekah J. Pratt, Charles R. Rogers. Exploring the impact of a giant inflatable colon on the level of awareness, knowledge, and intent for colorectal cancer screening among men attending two state fairs in the Midwest [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 3469.

Assessment of Adherence to Standard Operating Procedure in Blood Pressure Measurement of Children Above Three Years of Age Among Nurses Working in Paediatric Unit at Pondicherry Institute of Medical Sciences

Blood Pressure (BP) is the pressure of the blood flow which exerted against the wall of arteries when the ventricles contract. BP measurement based on guidelines is quality care and safe nursing practice. Adherence to guidelines reduces inaccuracies that may expose the patient to misdiagnosis and inappropriate care An infant may have a pretty common blood pressure of 80/45 mm of Hg, while that evaluation in an adult is considered low. A teenager may have a satisfactory blood pressure of 110/70 mm of Hg, but that value would be of apprehension in a toddler. Measurement of BP in children is more difficult than in adults because readings are likely to be falsely high in crying children, and an appropriately sized cuff may not be available. According to Paediatric resuscitation guidelines 2012, it is important to measure Blood Pressure while assessing a sick child to determine the circulatory and neurological status. Therefore, BP measurement based on guidelines becomes truly a valuable tool in screening for high-risk patients, early detection and control of hypertension, and prevention of complications. STATEMENT OF THE PROBLEM: “A Descriptive Study to assess adherence to the standard operating procedure in blood pressure measurement of children above three years of age among nurses working in the paediatric unit at Pondicherry institute of medical sciences” OBJECTIVES: 1. To determine the level of adherence among the staff nurses in following the standard operating procedure in blood pressure measurement in pediatric patients admitted to the Pondicherry Institute of Medical Sciences. 2. To identify the barriers in adhering to the standard operating procedure in blood pressure measurement. 3. To associate the demographic variables of staff Nurses with their level of adherence in following standard operating procedures for BPM. METHODOLOGY A descriptive non-experimental method was used to assess the level of adherence of standard operating procedures in blood pressure measurement of children above three years of age. The study was conducted in the pediatric ward, Pondicherry Institute of Medical Sciences, Pondicherry, in September 2019. Purposive sample method was used and the sample included 33 nurses. Each sample was observed three times using the observational checklist, which consists of twelve steps. Descriptive statistics were used to analyze the data. Frequency and percentage were used to assess the adherence level in following the standard operating procedure in blood pressure measurement. RESULT The result of the analysis of data shows that the majority of 32 (97 %) were female nurses, 31(94%) had B.Sc. Nursing degree and the majority of 27 (81.8 %) had work experience less than 4 years. Out of 33 participants, 6 (18.2 %) had adhered to the standard operating procedure in blood pressure measurement, 27 (81.8 %) were not able had adhered at all times while checking blood pressure with Aneroid BP Apparatus. Barriers related to adherence to SOP were related to lack of time, less manpower, workflow constraints, and some assumed that it is not necessary to follow each step every time, the cooperation of the child. CONCLUSION The result of the study showed that very few nurses adhered to each step in the SOP of blood pressure measurement. The study concludes that there is a need to conduct in-service education between regular intervals on the importance of SOP and skills and the importance of blood pressure measurement among nurses of PIMS Keywords: Standard Operating Procedure, Blood Pressure, Adherence, Nurses, Pediatric Unit

Ovarian Cancer Risk-Reduction and Screening in BRCA1/2 Mutation Carriers.

Objective: To determine the utilization of risk-reducing strategies and screening protocols for ovarian cancer in female BRCA1/2 carriers. Methods: This study was a sub-analysis of female participants from a larger multicenter, cross-sectional survey of BRCA1/2 mutation carriers unaffected by cancer. The questionnaire was administered electronically via email at four institutions located in the northeast United States. Data were analyzed with Fisher's exact test. Results: The survey was completed by 104 female BRCA mutation carriers. BRCA subtypes included 54.3% BRCA2, 41.0% BRCA1, and 2.9% both. The age at which patients underwent genetic testing varied 21.2% were 18-24 years, 25.0% were 25-34 years, 29.8% were 35-44 years, and 24.0% were 45 years or older. Nearly, all respondents (97.1%) reported that a provider had discussed risk-reducing surgeries. Of the 79 females who underwent genetic testing before 45 years of age, 53.2% reported that a health care provider recommended taking combined oral contraceptive pills (COCs) to reduce their risk of ovarian cancer, and, of these women, 88.1% chose to use them. COCs were offered at higher rates among women who were younger at the age of genetic testing (18-24: 86%, 25-34: 62%, 35-44: 23%; p < 0.0001). Approximately half (55.8%) of the respondents reported having been offered increased screening for possible early detection of ovarian cancer, of which 81.0% chose to undergo screening. The majority utilized a combination of transvaginal ultrasound and serum CA125 measurements. There were no differences observed in screening utilization based on BRCA mutation type. Conclusion: In our cohort of female BRCA mutation carriers, risk-reducing surgery was offered to almost all women, whereas only half were offered risk-reducing medication and/or increased screening. Further investigation is needed to identify barriers to the utilization of risk-reducing strategies among this high-risk population.

Problematic substance use in depressed adolescents: Prevalence and clinical correlates

BackgroundSubstance use among adolescents is common and associated with significant consequences, including depression. Adolescents can experience myriad problems related to early onset substance use and depression, making further understanding of this comorbidity necessary. MethodParticipants were a subset from a large-scale performance improvement project and consisted of adolescents aged 12–18 who screened positive for depression during their routine medical or psychiatric appointment and who then completed the substance use assessment Car, Relax, Alone, Forget, Friends, Trouble Version 2.1 (CRAFFT). Participants with problematic substance use had a CRAFFT score ≥2. ResultsA total of 621 participants were included in this study, and 105 (16.9%) reported problematic substance use. Compared with participants without problematic substance use, those with problematic use were more likely to have moderate to severe depression and anxiety, as well as significantly higher irritability, impulsivity, suicidal propensity, and suicidal thoughts scores. Controlling for age at screening, sex, race, and ethnicity, problematic substance use remained a significant predictor of depression severity, impulsivity, suicidal propensity, and suicidal thoughts. LimitationsParticipants were from a large, metropolitan area of the Southwest United States who must have screened positive for depression, so results may not generalize. Because all participants were underage, they may have been wary in responding to the substance use assessment accurately. ConclusionsBy using a large, diverse sample in a real-world clinical setting, findings strengthen the association between problematic substance use and depression and depression-associated symptoms among adolescents, highlighting the need for early detection and universal depression screening.

Segmentation of Drusen in Retinal Images for the Detection of Diabetic Retinopathy

Diabetic retinopathy (DR) is a most complicated eye disease that affects people with diabetes for an extended period. If necessary treatment is not given at the right time, DR leads to a severe loss of vision without prior symptoms. Therefore, patients with diabetes are recommended to undergo continuous screening for early detection of DR. In this paper, we proposed an automated detection process to detect the lesion called Drusen in retinal images. Drusen is not related to DR. The presence of Drusen does not indicate the disease DR. Still, it is used to identify the severity level of diabetes for the patient and to avoid the misdetection rate with other bright lesions (both exudates and cotton wool spots). This method is based on the Background image approach and inverse segmentation to detect the area affected by Drusen in retinal images. Inverse segmentation is used to segment the healthy areas based on regular texture rather than varying the texture of unhealthy areas. The segmented healthy areas are compared with the original image for segmenting Drusen. The segmentation process involved 40 images from the STARE database, producing better results based on accuracy and processing time.

Universal screening for early detection of chronic autoimmune, metabolic and cardiovascular diseases in the general population using capillary blood (UNISCREEN): low-risk interventional, single-centre, pilot study protocol

IntroductionChronic autoimmune (type 1 diabetes and coeliac disease) and metabolic/cardiovascular (type 2 diabetes, dyslipidaemia, hypertension) diseases are highly prevalent across all age ranges representing a major public health burden. Universal...

Bilateral Renal Ectopia-Prenatal Diagnosis.

This report explores the diverse spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), ranging from asymptomatic presentations to the most severe form characterized by bilateral renal agenesis. Genitourinary anomalies, a prevalent subset within this domain, account for a significant proportion, constituting 15-20% of anomalies identified during prenatal screening. An ectopic kidney is defined by the presence of an empty renal fossa and the displacement of the kidney from the lumbar region to alternative locations, with the pelvic region emerging as the most prevalent site. The reported case involves bilateral renal ectopia with unilateral duplex kidney. Initial suspicions of a renal anomaly arose during the first trimester, leading to a definitive diagnosis in the second trimester. The patient underwent regular monitoring every four weeks, ultimately delivering a healthy baby at term. This case underscores the frequency of renal anomalies, emphasizing that a considerable proportion remains asymptomatic. These findings contribute to a broader understanding of congenital renal anomalies, their varied manifestations, and the importance of vigilant prenatal screening for early detection and management.

Diagnostic Performance of Epithelial Cell Adhesion Molecule for Early Detection of Hepatocellular Carcinoma Among HCV High-Risk Patients.

Hepatocellular carcinoma (HCC) is often diagnosed at advanced stage where hopeless for effective therapies. Identification of more reliable biomarkers for early detection of HCC is urgently needed. Circulating tumor cells (CTCs) represent a unique liquid biopsy carrying comprehensive biological information of the primary tumor. Herein, we sought to develop a novel score based on the combination of the most significant CTCs biomarkers with routine laboratory tests for accurate detection of HCC. Epithelial cell adhesion molecule (EpCAM), α-fetoprotein, albumin, and platelets count were assayed in HCC patients (98), liver cirrhosis patients (77). Areas under receiving operating curve (AUCs) were calculated and used for construction on novel score. A novel score named EpCAM-HCC = AFP (U/L) × 0.11 - Albumin (g/dl) × 1.5 + EpCAM % × 2.9 - Platelets count (×109)/L× 0.75 - 93. EpCAM-HCC score produce AUC of 1 for differentiate patients with HCC from those with liver cirrhosis with sensitivity and specificity of a cut-off 1.7 (i.e., less than 1.7 the case is considered cirrhotic, whereas above 1.7 it is considered HCC. EpCAM-HCC score could replace AFP during screening of HCV patients and early detection of HCC.

Identification of Psychosis Risk and Diagnosis of First-Episode Psychosis: Advice for Clinicians.

Early detection of psychotic-spectrum disorders among adolescents and young adults is crucial, as the initial years after psychotic symptom onset encompass a critical period in which psychosocial and pharmacological interventions are most effective. Moreover, clinicians and researchers in recent decades have thoroughly characterized psychosis-risk syndromes, in which youth are experiencing early warning signs indicative of heightened risk for developing a psychotic disorder. These insights have created opportunities for intervention even earlier in the illness course, ideally culminating in the prevention or mitigation of psychosis onset. However, identification and diagnosis of early signs of psychosis can be complex, as clinical presentations are heterogeneous, and psychotic symptoms exist on a continuum. When a young person presents to a clinic, it may be unclear whether they are experiencing common, mild psychotic-like symptoms, early warning signs of psychosis, overt psychotic symptoms, or symptoms better accounted for by a non-psychotic disorder. Therefore, the purpose of this review is to provide a framework for clinicians, including those who treat non-psychotic disorders and those in primary care settings, for guiding identification and diagnosis of early psychosis within the presenting clinic or via referral to a specialty clinic. We first provide descriptions and examples of first-episode psychosis (FEP) and psychosis-risk syndromes, as well as assessment tools used to diagnose these conditions. Next, we provide guidance as to the differential diagnosis of conditions which have phenotypic overlap with psychotic disorders, while considering the possibility of co-occurring symptoms in which case transdiagnostic treatments are encouraged. Finally, we conclude with an overview of early detection screening and outreach campaigns, which should be further optimized to reduce the duration of untreated psychosis among youth.

Public awareness of war on diabetes campaign and its association with behavioural outcomes.

The War on Diabetes campaign was launched in 2016, encouraging Singapore residents to engage in regular exercise, adopt healthy dietary habits and screen for early detection of diabetes. This study aims to examine campaign awareness and its associations with sedentary behaviour, dietary habits and identifying diabetes. Data were obtained from the nationwide Knowledge, Attitudes and Practices study on diabetes in Singapore. A total of 2895 participants responded to a single question assessing campaign awareness. The Dietary Approaches to Stop Hypertension (DASH) diet screener assessed dietary habits, and the Global Physical Activity Questionnaire (GPAQ) measured sedentary behaviour. Recognition of diabetes was established using a vignette depicting a person with diabetes mellitus. Logistic and linear regression models were used to measure the associations. Most participants were 18- to 34-years old (29.9%) and females (51.6%). About 57.4% identified the campaign. Campaign awareness exhibited positive associations with identifying diabetes based on the vignette [odds ratio (OR): 1.5; 95% confidence interval (CI): 1.1-2.2; P = 0.022], lower odds of sedentary behaviour ≥7 h/day (OR: 0.7; CI: 0.5-0.9; P = 0.018) and higher DASH scores (β = 1.3; P < 0.001). The study recognized early significant associations between the behavioural outcomes and the campaign, emphasizing the need for ongoing campaign sustainability and evaluation of its long-term impact on population health.