ABSTRACT
Worldwide, lung cancer is the most common killer among cancers, advanced disease has worse outcomes, earlier stage detection leads to better outcomes, and high-quality screening has a favorable net benefit. With the mortality reduction recognized from annual low-radiation dose computed tomography by screening those at high risk, there has been consideration that this benefit could translate to those who have never smoked. There have been several large-scale, single-arm, observational trials in Asia in persons with light to no smoking histories, with or without a family history of lung cancer, which have revealed high or higher lung cancer detection rates than previously reported in high-risk persons who currently or formerly smoked. The Early Detection Program for Lung Cancer in Taiwan, of nearly 50,000 persons, revealed that the cancer detection rate for those screened with low-radiation dose computed tomography was more than twofold higher in light- or never-smokers with a family history of lung cancer compared with high-risk persons with more than 30 or more pack-years exposure and meeting U.S. Preventative Services Task Force criteria for screening. In addition, more than 90% of the cancers detected in those with a family history were in early stage. On the basis of those findings, the researchers concluded that screening first-degree relatives of those with a family history of lung cancer, irrespective of smoking history, would lead to a decrease in lung cancer mortality. We believe that the findings in this cohort and others like it represent substantial overdiagnosis and that the harms associated with screening a population that has a low likelihood of developing lethal cancers have not been thoroughly considered. Here, we provide our perspective and consider the potential benefits and harms of screening populations outside those currently eligible using the U.S. Preventative Services Task Force criteria.
Subject(s)
Early Detection of Cancer , Lung Neoplasms , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/pathology , Early Detection of Cancer/methods , Risk Factors , Tomography, X-Ray Computed/methods , Mass Screening/methodsABSTRACT
Introduction: Kallmann syndrome (KS) is a genetically heterogeneous developmental disorder that most often manifests hypogonadotropic hypogonadism (HH) and hypo-/anosmia due to early embryonic impairment in the migration of gonadotropin-releasing hormone neurons. SOX10 (SRY-Box 10; MIM*602229), a key transcriptional activator involved in the development of neural crest cells, has been associated with KS and is identified as one of the causative genes of Waardenburg syndrome (WS). Case Presentation: A 28-year-old female patient, who was clinically diagnosed with KS in her childhood, presented with HH and anosmia, mild bilateral sensorineural hearing loss (SNHL), and pigmentation abnormalities. Next-generation sequencing analysis detected a missense heterozygous SOX10 pathogenic variant (NM_006941.4:c.506C>T) in the proposita and in her mother, whose phenotype included exclusively anosmia and hypopigmented skin patches. The same variant has been described by Pingault et al. [Clin Genet. 2015;88(4):352-9] in a patient with apparently isolated bilateral severe SNHL. Conclusion: Our finding substantiates the extreme phenotypic variability of SOX10-related disorders, which range from classical KS and/or WS to contracted endophenotypes that could share a common pathway in the development of neural crest cells and highlights the need for careful evaluation and long-term follow-up of SOX10 patients, with special focus on atypical/additional and/or late-onset phenotypic traits.
ABSTRACT
Background: Population-based cancer registries are the best source of information to measure cancer burden. However, little is done to use this information for individual cancer risk assessment. In this study, we aimed at identifying women at high risk of breast and ovarian cancer using data on family history of cancer from the Israel national cancer registry. Methods: We used the family history assessment tool (FHAT) to score all females, 26 to 45 years of age, in a 2.6-million-member health provider in Israel (Maccabi Healthcare Services). Data on breast, ovarian, prostate, and pancreatic cancer history among the participants and their parents (identified using the national census) were retrieved from the national cancer registry. These data were used to calculate individual FHAT scores. Results: A total of 377,931 eligible women were included in the analysis. A relevant family history of cancer was detected in 20,386 (5.4%), with FHAT scores ranging from 1 to 16. FHAT score was higher in older women and among those with a history of breast cancer. Among women aged 35-39, an FHAT score of 10 or above was associated with an OR of 15.23 (95%CI: 7.41-28.19) for breast cancer compared to women with an FHAT of 0. Conclusions: Using individual-level data from national cancer registries may assist in detecting women with a relevant family history of cancer.
ABSTRACT
Despite ethical and historical arguments for removing race from clinical algorithms, the consequences of removal remain unclear. Here, we highlight a largely undiscussed consideration in this debate: varying data quality of input features across race groups. For example, family history of cancer is an essential predictor in cancer risk prediction algorithms but is less reliably documented for Black participants and may therefore be less predictive of cancer outcomes. Using data from the Southern Community Cohort Study, we assessed whether race adjustments could allow risk prediction models to capture varying data quality by race, focusing on colorectal cancer risk prediction. We analyzed 77,836 adults with no history of colorectal cancer at baseline. The predictive value of self-reported family history was greater for White participants than for Black participants. We compared two cancer risk prediction algorithms-a race-blind algorithm which included standard colorectal cancer risk factors but not race, and a race-adjusted algorithm which additionally included race. Relative to the race-blind algorithm, the race-adjusted algorithm improved predictive performance, as measured by goodness of fit in a likelihood ratio test (P-value: <0.001) and area under the receiving operating characteristic curve among Black participants (P-value: 0.006). Because the race-blind algorithm underpredicted risk for Black participants, the race-adjusted algorithm increased the fraction of Black participants among the predicted high-risk group, potentially increasing access to screening. More broadly, this study shows that race adjustments may be beneficial when the data quality of key predictors in clinical algorithms differs by race group.
Subject(s)
Algorithms , Colorectal Neoplasms , Humans , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/ethnology , Colorectal Neoplasms/epidemiology , Male , Female , Middle Aged , Data Accuracy , White People/statistics & numerical data , Black or African American/statistics & numerical data , Risk Factors , Aged , Adult , Cohort Studies , Racial Groups/statistics & numerical data , Risk Assessment/methodsABSTRACT
Background: Although family history of psychiatric disorders has often been considered potentially useful in understanding clinical presentations in patients, it is less clear what a positive gambling family history means for people with gambling disorder. We sought to understand the clinical impact of having a first-degree relative with gambling disorder in a sample of adults with gambling disorder. Methods: Data from 455 participants (aged 18-65 years) who had participated in previous pharmacological and psychotherapeutic clinical trials for gambling disorder were pooled in a secondary analysis. Demographic and clinical variables were compared between those who did versus did not have one or more first-degree relative(s) with gambling disorder. Additionally, we examined whether a family history of gambling disorder was associated with treatment outcome. Results: 223 (49.0%) participants had at least one first-degree family member(s) with gambling disorder. In terms of clinical variables, family history of gambling disorder was significantly associated with being female, having an earlier age of gambling onset, longer duration of untreated gambling illness, a greater likelihood of developing legal problems secondary to gambling, and higher rates of alcohol use disorder in family members. Family history of gambling disorder was also associated with a greater gambling symptom improvement from pharmacotherapy. Conclusions: These results indicate that gamblers with a first-degree family member with a gambling disorder may have a unique clinical presentation and better response to treatment interventions.
ABSTRACT
BACKGROUND: Germline breast cancer susceptibility gene (gBRCA) mutation in patients with pancreatic cancer (PC) is not common in clinical practice. Therefore, factors that efficiently show gBRCA mutations and the real-world outcomes of olaparib maintenance therapy have not been fully established. In the present study, we clarified the indicators for the effective detection of gBRCA mutation and the efficacy and safety of olaparib as maintenance therapy. METHODS: We retrospectively analyzed 84 patients with PC who underwent gBRCA testing (BRACAnalysis, Myriad Genetics, Salt Lake City, UT, USA) at our institute between January 2021 and March 2022. For each patient, clinical data were extracted from medical records. RESULTS: The median patient age was 64 y (29-85 y), and 41 patients (48.8%) were male. The gBRCA mutations were identified in 10 (11.9%) patients; two patients had BRCA1 mutation and eight had BRCA2 mutation. All patients with gBRCA mutation had a family history of any cancer, and eight of them had a family history of Hereditary Breast and Ovarian Cancer syndrome (HBOC)-related cancer. The gBRCA mutation rate was higher for patients with PC with a family history of HBOC-related cancer compared to that in patients with PC having a family history of other cancers and no family history of cancer (22.9% vs. 4.1%; P = 0.014). In our study, eight out of 10 patients with gBRCA-positive PC received olaparib after platinum-based chemotherapy. The best responses to platinum-based chemotherapy included a complete response in one patient (12.5%) and a partial response in seven patients (87.5%). The median duration of treatment with platinum-based chemotherapy plus olaparib was 17.5 months (8-87 months), and the duration of treatment with olaparib maintenance therapy was 11 months (1-30 months). During olaparib maintenance therapy, three patients showed no disease progression. One of these three patients underwent conversion surgery after receiving olaparib for 12 months. CONCLUSIONS: The gBRCA testing should be considered proactively, especially in patients with PC with a family history of HBOC-related cancer.
Subject(s)
BRCA1 Protein , BRCA2 Protein , Genetic Predisposition to Disease , Germ-Line Mutation , Pancreatic Neoplasms , Phthalazines , Piperazines , Humans , Phthalazines/therapeutic use , Middle Aged , Female , Aged , Male , Adult , Retrospective Studies , Pancreatic Neoplasms/genetics , Pancreatic Neoplasms/drug therapy , Aged, 80 and over , Piperazines/therapeutic use , Piperazines/administration & dosage , BRCA2 Protein/genetics , BRCA1 Protein/genetics , Maintenance Chemotherapy , Genetic Testing/methods , Clinical RelevanceSubject(s)
Head and Neck Neoplasms , Melanoma , Skin Neoplasms , Humans , Melanoma/epidemiology , Melanoma/pathology , Melanoma/diagnosis , Head and Neck Neoplasms/epidemiology , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/diagnosis , Skin Neoplasms/pathology , Skin Neoplasms/epidemiology , Skin Neoplasms/diagnosis , Female , Male , Middle Aged , Aged , Adult , Risk Factors , Neoplasm Invasiveness , Aged, 80 and overABSTRACT
BACKGROUND: Immune thrombocytopenia (ITP) and Evans syndrome (ES) are manifestations of immune dysregulation. Genetic variants in immune-related genes have been identified in patients with ITP and especially ES. We aimed to explore familial autoimmunity in patients with ITP and ES to understand possible contributions to chronicity. PROCEDURE: We assessed family history in two ways: via patient report for ITP and ES and by population-based analysis using the Utah Population Database (UPDB) for ITP. A total of 266 patients with ITP and 21 patients with ES were identified via chart review, and 252 of the 266 patients with ITP were also identified in the UPDB. RESULTS: Chart review showed familial autoimmunity in 29/182 (15.9%) and 25/84 (29.8%) of patients with newly diagnosed+persistent (nd+p) ITP and chronic ITP (cITP), respectively, (p = .009). The UPDB analysis revealed that autoimmunity in relatives of patients with nd+pITP was higher than in relatives of controls (odds ratio [OR]: 1.69 [1.19-2.41], p = .004), but was not significantly increased in relatives of patients with cITP (OR 1.10 [0.63-1.92], p = .734). Incomplete family history in medical records likely contributed to the observed discrepancy. CONCLUSIONS: The findings suggest that familial autoimmunity may have a stronger association with the development of ITP rather than its duration. Twelve (57.1%) patients with ES reported autoimmunity in their relatives. UPDB analysis was omitted due to the small number of patients with ES. The use of population databases offers a unique opportunity to assess familial health and may provide clues about contributors to immune dysregulation features within families.
Subject(s)
Anemia, Hemolytic, Autoimmune , Autoimmunity , Purpura, Thrombocytopenic, Idiopathic , Thrombocytopenia , Humans , Anemia, Hemolytic, Autoimmune/immunology , Anemia, Hemolytic, Autoimmune/epidemiology , Anemia, Hemolytic, Autoimmune/genetics , Female , Male , Purpura, Thrombocytopenic, Idiopathic/immunology , Purpura, Thrombocytopenic, Idiopathic/genetics , Purpura, Thrombocytopenic, Idiopathic/epidemiology , Child , Child, Preschool , Thrombocytopenia/immunology , Thrombocytopenia/genetics , Adolescent , Infant , Adult , Young Adult , Risk Factors , Middle AgedABSTRACT
OBJECTIVES: Lung Cancer (LC) is a multifactorial disease for which the role of genetic susceptibility has become increasingly relevant. Our aim was to use artificial intelligence (AI) to analyze differences between patients with LC based on family history of cancer (FHC). MATERIALS AND METHODS: From August 2016 to June 2020 clinical information was obtained from Thoracic Tumors Registry (TTR), a nationwide database sponsored by the Spanish Lung Cancer Group. In addition to descriptive statistical analysis, an AI-assisted analysis was performed. The German Technical Information Library supported the merging of data from the electronic medical records and database of the TTR. The results of the AI-assisted analysis were reported using Knowledge Graph, Unified Schema and descriptive and predictive analyses. RESULTS: Analyses were performed in two phases: first, conventional statistical analysis including 11,684 patients of those 5,806 had FHC. Median overall survival (OS) for the global population was 23 months (CI 95 %: 21.39-24.61) in patients with FHC versus 21 months (CI 95 %: 19.53-22.48) in patients without FHC (NFHC), p < 0.001. The second AI-assisted analysis included 5,788 patients of those 939 had FHC. 58.48 % of women with FHC had LC. 9.53 % of patients had an EGFR or HER2 mutation or ALK translocation and at least one relative with cancer. A family history of LC was associated with an increased risk of smoking-related LC. Non-smokers with a family history of LC were more likely to have an EGFR mutation in NSCLC. In Bayesian network analysis, 55 % of patients with a family history of LC and never-smokers had an EGFR mutation. CONCLUSION: In our population, the incidence of LC in patients with a FHC is higher in women and younger patients. FHC is a risk factor and predictor of LC development, especially in people ≤ 50 years. These results were confirmed by conventional statistics and AI-assisted analysis.
ABSTRACT
Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.
ABSTRACT
INTRODUCTION: This antenatal screening review will include reproductive screening evidence and approaches for pre-conception and post-conception, using first to third trimester screening opportunities. METHODS: Focused antenatal screening peer-reviewed publications were evaluated and summarized. RESULTS: Evidenced-based reproductive antenatal screening elements should be offered and discussed, with the pregnancy planning or pregnant person, during Preconception (genetic carrier screening for reproductive partners, personal and family (including reproductive partner) history review for increased genetic and pregnancy morbidity risks); First Trimester (fetal dating with ultrasound; fetal aneuploidy screening plus consideration for expanded fetal morbidity criteria, if appropriate; pregnant person preeclampsia screening; early fetal anatomy screening; early fetal cardiac screening); Second Trimester for standard fetal anatomy screening (18-22 weeks) including cardiac; pregnant person placental and cord pathology screening; pregnant person preterm birth screening with cervical length measurement); Third Trimester (fetal growth surveillance; continued preterm birth risk surveillance). CONCLUSION: Antenatal reproductive screening has multiple elements, is complex, is time-consuming, and requires the use of pre- and post-testing counselling for most screening elements. The use of preconception and trimesters 'one to three' requires clear patient understanding and buy-in. Informed consent and knowledge transfer is a main goal for antenatal reproductive screening approaches.
ABSTRACT
Compared to other malignancies, few studies have investigated the role of family history of cancer (FHC) in patients with lung cancer, yielding largely heterogeneous results. We performed a systematic literature review in accordance with PRISMA guidelines, searching the PubMed and Scopus databases from their inception to November 25, 2023, to identify studies reporting on the role of FHC in patients with lung cancer. A total of 53 articles were included, most with a retrospective design and encompassing a variety of geographical areas and ethnicities.Thirty studies (56.6%) assessed patients with non-small cell lung cancer (NSCLC), while 17 studies (32.1%) assessed patients with mixed histologies. Overall, the rates of FHC ranged from 8.3 to 68.9%, and the rates of family history of lung cancer ranged from 2 to 46.8%. Twenty-seven studies investigated FHC as a potential risk factor for lung cancer, with more than half reporting an increased risk for subjects with FHC. Five studies reported on the potential role of FHC in determining clinical outcomes, and twelve studies examined the relationship between FHC and germline mutations. Notably, only one study reported a significantly increased rate of germline mutations, including ATM, BRCA2, and TP53, for patients with a family history of lung cancer compared to those without, but both groups had a low prevalence of mutations (< 1%).The FAHIC-Lung (NCT06196424) is the first cross-sectional/prospective study specifically developed to identify FHC patterns and within-family clusters of other risk factors, including smoking, to guide patients with NSCLC to systematic genetic counseling. Acknowledging the largely heterogeneous results of our systematic review and considering the clinical implications of detecting pathogenic germline variants (PGVs), the FAHIC-lung study aims to identify patients potentially enriched with PGVs/likely PGVs to direct them to germline screening outside of the research setting.
Subject(s)
Lung Neoplasms , Humans , Lung Neoplasms/genetics , Cross-Sectional Studies , Prospective Studies , Genetic Predisposition to Disease , Risk Factors , Male , Female , Research DesignABSTRACT
Autism sibling recurrence in prospective infant family history studies is ~20% at 3 years but systematic follow-up to mid-childhood is rare. In population and clinical cohorts autism is not recognized in some children until school-age or later. One hundred and fifty-nine infants with an older sibling with autism underwent research diagnostic assessments at 3 years and mid-childhood (6 to 12 years (mean 9)). We report the autism sibling recurrence rate in mid-childhood and compare developmental and behavioral profiles at mid-childhood and 3 years in those with earlier versus later recognized autism, and those who had, or had not, received a community autism diagnosis. The autism recurrence rate in this sample in mid-childhood was 37.1%, 95% CI [29.9%, 44.9%] and higher in boys than girls. Around half of those diagnosed with autism in mid-childhood had not received a diagnosis at 3 years. Later, diagnosis was more common in girls than boys. While some had sub-threshold symptoms at 3, in others late diagnosis followed a largely typical early presentation. Sibling recurrence based on community clinical diagnosis was 24.5%, 95% CI [18.4%, 31.9%]. Those who also had a community diagnosis tended to be older, have lower adaptive function and higher autism and inattention symptoms. Notwithstanding limitations of a single site study, modest sample size and limits to generalisability, autism sibling recurrence in family history infants may be higher in mid-childhood than in studies reporting diagnostic outcome at 3 years. Findings have implications for families and clinical services, and for prospective family history studies.
Subject(s)
Autistic Disorder , Recurrence , Siblings , Humans , Male , Female , Child, Preschool , Autistic Disorder/genetics , Child , Infant , Autism Spectrum Disorder/geneticsABSTRACT
BACKGROUND: Several studies have investigated the association between family history of stroke (FHS) and stroke etiology, recurrence, or mortality; however, the results have been discrepant. We conducted a systematic review with meta-analysis to further evaluate the associations. MATERIALS AND METHODS: We searched Scopus database using the term "family history" AND "stroke" up to December 2023 to identify observational studies and systematic reviews reporting both the prevalence of FHS and the rates of stroke etiology or recurrence or mortality. Case reports, series, and narrative reviews were excluded. We used odds ratio (OR) as a common measure of association and I2 to determine heterogeneity of effects across studies. RESULTS: We have identified 22 articles (130,999 patients, 53% female), which met the prespecified inclusion criteria. After pooling the results, FHS was associated with large-vessel (OR, 1.24, 95% CI [1.07-1.44]), as well as small-vessel (OR, 1.17, 95% CI [1.05-1.31]), but not cardioembolic stroke etiology (OR, 0.74, 95% CI [0.60-0.90]). There was no relationship between FHS and stroke recurrence (OR, 1.16, 96% CI [0.84-1.61]), nor mortality (0.94, 95% CI [0.63-1.41]). CONCLUSIONS: FHS is associated with large- and small-vessel stroke etiology, but not stroke recurrence or mortality. These findings might be useful to physicians caring for stroke patients in their everyday practice.
ABSTRACT
Prostate cancer (PCa) is a major cause of illness and death in men of Sub-Sahara African origin. The study assessed the pattern of PCa, the effect of family history on PSA at diagnosis, and clinical characteristics of PCa in Nigeria. A cross-sectional survey of 200 participants was performed within a 12-month period in Nigeria. Data were collected through patients' interview and hospital records and analyzed using SPSS version 25. Descriptive and inferential statistics were performed. P values <.05 were significant. Mean age of 68.5 years was observed among the 200 study participants. Only 64 (32.0%) had a positive immediate family history of PCa, and 61 (30.5%) were not aware of their family cancer history. Most patients 140 (70.0%) had lower urinary tract symptom (LUTS)/lower back pain/leg pain, and the average Gleason score was 7.55 (±0.876). Symptoms of LUTS/lower back pain mostly occurred in patients between 58 and 79 years, while LUTS/leg pain was more common in persons between 60 and 84. Average PSA differed among participants; persons with no family cancer history (M = 143.989; 95% confidence interval [CI] = 114.849-173.129), family history of PCa (M = 165.463; 95% CI = 131.435), family history of cervical cancer (M = 133.456; 95% CI = 49.335-217.576), and persons with no knowledge of their family cancer history (M = 121.546; 95% CI = 89.234-153.857). Univariate one-way (F-Tests) showed that family history of cancer had no significant impact on patients' PSA (R2 = 0.017; adjusted R2 = 0.002; df = 3; F = 1.154; p = .329) at diagnosis. PCa mostly occurred in men within 60 to 70 years of age, and family history of cancer did not predict PSA at diagnosis. Patients presented to health facilities at advanced or metastatic stages. These findings highlight the need for policies and strategies that encourage early PCa screening.
Subject(s)
Prostate-Specific Antigen , Prostatic Neoplasms , Humans , Male , Prostatic Neoplasms/genetics , Middle Aged , Cross-Sectional Studies , Aged , Nigeria , Prostate-Specific Antigen/blood , Aged, 80 and over , Medical History TakingABSTRACT
BACKGROUND: We studied the prevalence and incidence of type 2 diabetes (T2DM) and its associated risk factors in younger (20 and 39 years) and older individuals (≥40 years) over a 10-year period. METHODS: Epidemiological surveys in 2006 (n = 7066) and 2016 (n = 9848) were conducted in similar urban and rural locations of southern India among people aged ≥20 years. Diagnosis of T2DM was made using World Health Organization criteria. Self-reported diabetes was verified from medical records. Age and gender standardized prevalence and incidence rates, percentage change in obesity, hypertension, and dyslipidemia were calculated. Prevalence ratios (PR) were calculated using Poisson regression analyses. Primary study was registered on www. CLINICALTRIALS: gov. Identifier: NCT03490136. RESULTS: In 10 years, the prevalence of T2DM increased in younger (7.8% vs. 4.5%, p < 0.0001) and older individuals (34% vs. 28.4%, p < 0.0001). After adjusting for age, family history of diabetes, and waist circumference, younger individuals showed a higher percentage increase in prevalence than the older group (PR = 1.36 [95% confidence interval [CI], 1.14-1.62], p = 0.001) versus (PR = 1.11 [95% CI, 1.02-1.20], p = 0.02). Increase in rates of obesity and dyslipidemia was also higher in the younger than in the older individuals. In 10 years, incidence of T2DM increased by 120% (1.1% vs. 0.5%, p < 0.0001) and 150% (5% vs. 2%, p < 0.0001) in the younger and older individuals, respectively. CONCLUSIONS: Higher percentage increase in prevalence of T2DM was seen among younger individuals over a 10-year period. Obesity and family history of diabetes were shown to be the primary contributing factors for the rise in prevalence.
Subject(s)
Diabetes Mellitus, Type 2 , Adult , Female , Humans , Male , Middle Aged , Young Adult , Age Factors , Diabetes Mellitus, Type 2/epidemiology , Dyslipidemias/epidemiology , Incidence , India/epidemiology , Obesity/epidemiology , Prevalence , Risk FactorsABSTRACT
Objectives: Type 2 Diabetics have elevated risk for acute coronary syndrome (ACS). The current management algorithm focuses on atherosclerotic cardiovascular (ASCVD) risk score to stratify this risk. However, in medically managed subjects, this algorithm may not be accurate. This study compares the ASCVD risk score in an Indian population with T2DM under medical supervision and the actual incidence of ACS. It also compared the ASCVD risk scores in cases with T2DM who developed ACS to controls and tried to estimate whether the ASCVD risk score is different in the two subsets, evaluating the utility of the ASCVD risk score in predicting ACS. Methodology: This is an electronic medical record (EMR) based case-control study. Only records of subjects with T2DM where details of age, sex, body mass index, blood pressure, duration of diabetes, family history of ACS, lipid profile, renal and liver function tests were included. The incidence of ACS was calculated in the selected records, and the records of subjects with ACS were compared with age and sex-matched subjects without ACS. Data are summarized as median and interquartile range (IQR). Wilcoxon rank-sum test was used for checking differences in continuous variables and Pearson's Chi-squared test for categorical data. Univariate and multivariate logistic regression analyses were used to check the effect of ASCVD scores and other variables on the occurrence of ACS.Statistical data analyses were performed using JASP, version 0.16.4 (JASP Team [2022]) for MS Windows. Results: Of the 1226 EMRs included in the analysis, 207 had ACS. The actual incidence of ACS was 16.85% in 6 years, higher than the mean predicted 10-year incidence of 14.56 percent (p <0.05). The cases were age and sex-matched with controls and the ASCVD incidence was estimated in the two groups. The mean ASCVD score in the cases was 14.565 ± 8.709 (Min: 1.5, Max: 38.3) and controls 13.114 ± 8.247 (Min: 1.4, Max: 45). The chance of development of ACS increases with elevated systolic blood pressure (per mmHg rise OR: 1.04, 95% CI: 1.03, 1.06; p <0.001), positive family history (OR: 5.70, 95% CI: 3.41, 9.77; p <0.001), statin use (OR: 2.26, 95% CI: 1.46, 3.52; p <0.001), and longer duration of diabetes (for every year increase OR: 1.19, 95% CI: 1.13, 1.25; p <0.001). Conclusion: The ASCVD risk score underestimates the ACS risk in subjects with T2DM under medical supervision and may not differ in those who developed and did not develop ACS. We also conclude that factors like a negative family history (30% less risk), longer duration of diabetes, and higher SBP are relevant in those who developed ACS.
Subject(s)
Acute Coronary Syndrome , Diabetes Mellitus, Type 2 , Humans , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/complications , Acute Coronary Syndrome/epidemiology , Female , Male , Middle Aged , Case-Control Studies , Risk Assessment/methods , Incidence , Risk Factors , India/epidemiology , Aged , Adult , Electronic Health RecordsABSTRACT
BACKGROUND: University students with a family history of mental illness may have an increased risk of developing mental health problems. AIMS: The aim of the study was to assess differences in mental health help seeking among students with a family history of mental illness compared to those without a family history. METHODS: A total of 1127 university students, aged 18 to 30 years, completed an online survey with questions about mental illness, family history of mental illness, help seeking, and psychological symptoms. RESULTS: Students with a family history of mental illness were more likely to report clinically significant symptoms and more likely to use social media and online support programs. They reported similar rates of in-person help seeking. Those with more than one family member with a mental illness reported greater symptom severity, more use of online programs, and increased likelihood of prescription drug use than those with only one family member. CONCLUSIONS: More research is needed to understand how to increase access to mental health care and to address barriers to help-seeking considering family history of mental illness. University students may not be accessing appropriate treatment and care as required, with the rates of in-person help-seeking being low overall.
ABSTRACT
PURPOSE: To evaluate the accuracy of a positive self-reported glaucoma family history. MATERIAL AND METHODS: Cross-sectional study. Each subject was asked if they had a first-degree relative diagnosed with glaucoma. If their answer was affirmative, the relative was invited to attend on ophthalmic evaluation and underwent complementary exams to confirm or exclude the glaucoma diagnosis. Only one relative was included per subject. RESULTS: We included 204 subjects in the study (102 subjects and their respective relatives). The accuracy of family history of glaucoma was 76.96% of the cases. In the univariable analysis, subjects with college degree had 2.34 [(P = 0.010; 95% confidence interval (CI) 1.18-4.63)], with higher family income 3.72 (P = 0.003; 95% CI 1.57-8.85) and those with health insurance 3.42 (P = 0.001; 95% CI 1.67-6.98) more chances to have a true positive family history for glaucoma. In the multivariable logistic regression analysis, none of the variables presented significant association. CONCLUSION: Around 24% of patients may not provide reliable information about family history for glaucoma. When asking about a glaucoma family history, clinicians should consider the real accuracy of this self-reported data.