Accounting for age of onset and family history improves power in genome-wide association studies.

Genome-wide association studies (GWASs) have revolutionized human genetics, allowing researchers to identify thousands of disease-related genes and possible drug targets. However, case-control status does not account for the fact that not all controls may have lived through their period of risk for the disorder of interest. This can be quantified by examining the age-of-onset distribution and the age of the controls or the age of onset for cases. The age-of-onset distribution may also depend on information such as sex and birth year. In addition, family history is not routinely included in the assessment of control status. Here, we present LT-FH++, an extension of the liability threshold model conditioned on family history (LT-FH), which jointly accounts for age of onset and sex as well as family history. Using simulations, we show that, when family history and the age-of-onset distribution are available, the proposed approach yields statistically significant power gains over LT-FH and large power gains over genome-wide association study by proxy (GWAX). We applied our method to four psychiatric disorders available in the iPSYCH data and to mortality in the UK Biobank and found 20 genome-wide significant associations with LT-FH++, compared to ten for LT-FH and eight for a standard case-control GWAS. As more genetic data with linked electronic health records become available to researchers, we expect methods that account for additional health information, such as LT-FH++, to become even more beneficial.

Systematic comparison of family history and polygenic risk across 24 common diseases.

Family history is the standard indirect measure of inherited susceptibility in clinical care, whereas polygenic risk scores (PRSs) have more recently demonstrated potential for more directly capturing genetic risk in many diseases. Few studies have systematically compared how these overlap and complement each other across common diseases. Within FinnGen (N = 306,418), we leverage family relationships, up to 50 years of nationwide registries, and genome-wide genotyping to examine the interplay of family history and genome-wide PRSs. We explore the dynamic for three types of family history across 24 common diseases: first- and second-degree family history and parental causes of death. Covering a large proportion of the burden of non-communicable diseases in adults, we show that family history and PRS are independent and not interchangeable measures, but instead provide complementary information on inherited disease susceptibility. The PRSs explained on average 10% of the effect of first-degree family history, and first-degree family history 3% of PRSs, and PRS effects were independent of both early- and late-onset family history. The PRS stratified the risk similarly in individuals with and without family history. In most diseases, including coronary artery disease, glaucoma, and type 2 diabetes, a positive family history with a high PRS was associated with a considerably elevated risk, whereas a low PRS compensated completely for the risk implied by positive family history. This study provides a catalogue of risk estimates for both family history of disease and PRSs and highlights opportunities for a more comprehensive way of assessing inherited disease risk across common diseases.

The value of genetic testing for family health history of adopted persons.

Lack of family health history experienced by most adopted persons can represent a marked disadvantage. This Comment discusses the role of genetic testing in filling this informational gap and the challenges that need to be overcome.

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

Clinical interpretation of missense variants is challenging because the majority identified by genetic testing are rare and their functional effects are unknown. Consequently, most variants are of uncertain significance and cannot be used for clinical diagnosis or management. Although not much can be done to ameliorate variant rarity, multiplexed assays of variant effect (MAVEs), where thousands of single-nucleotide variant effects are simultaneously measured experimentally, provide functional evidence that can help resolve variants of unknown significance (VUSs). However, a rigorous assessment of the clinical value of multiplexed functional data for variant interpretation is lacking. Thus, we systematically combined previously published BRCA1, TP53, and PTEN multiplexed functional data with phenotype and family history data for 324 VUSs identified by a single diagnostic testing laboratory. We curated 49,281 variant functional scores from MAVEs for these three genes and integrated four different TP53 multiplexed functional datasets into a single functional prediction for each variant by using machine learning. We then determined the strength of evidence provided by each multiplexed functional dataset and reevaluated 324 VUSs. Multiplexed functional data were effective in driving variant reclassification when combined with clinical data, eliminating 49% of VUSs for BRCA1, 69% for TP53, and 15% for PTEN. Thus, multiplexed functional data, which are being generated for numerous genes, are poised to have a major impact on clinical variant interpretation.

Rethinking Substance Use as Social History: Charting a Way Forward.

Physicians have traditionally asked about substance use within the Social History section of the consultation note. Drawing on social science theory and using the authors' own experiences as generalists and addiction scholars, we consider the possible unintended harms associated with this approach. The inclusion of the substance use history within the Social History reproduces the discourse of substance use disorders as "life-style choices" rather than medical conditions, and reinforces stigma among healthcare workers through the attribution of personal responsibility for complications associated with problematic substance use. The ongoing placement of the substance use history within the Social History may lead to a failure to diagnose and make appropriate management plans for clients with substance use disorders. These missed opportunities may include inadequate withdrawal management leading to discharge before medically advised, insufficient use of evidence-based pharmacotherapy and psychotherapy, polypharmacy, medical complications, and repeated admissions to hospital. We argue instead that the Substance Use History should be a stand-alone section within the consultation note. This new section would reduce the invisibility of substance use disorders within our medical systems and model that these chronic medical conditions are amenable to prevention, treatment and harm reduction through the application of evidence-based practices.

Epilepsy in dystrophinopathies: A retrospective cohort and review of the literature.

OBJECTIVE: This study aimed to assess the prevalence and characteristics of epilepsy in dystrophinopathies within a cohort of 142 patients at a tertiary neuromuscular center in Istanbul, Turkey. METHODS: We recorded the age at seizure onset, seizure type, family history, history of febrile seizures, treatment, and EEG results. Epilepsy was classified according to the latest International League Against Epilepsy (ILAE) classification. RESULTS: Of the 142 DMD patients, 8 experienced epileptic seizures (5.6 %). The median age of the patients was 11 years (8.0-15.2). The median age for the first DMD symptoms was 24 months (16.5-37.5). All seizures were consistent with generalized tonic-clonic seizures. Three patients are currently on anti-seizure medication. SIGNIFICANCE: The prevalence of epilepsy in our study (5.6 %) exceeds that of the general pediatric population (0.5-1 %). However, the frequency of febrile seizures in children with dystrophinopathy is similar to that of the general population.

Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.

BACKGROUND: Detection of cancer predisposition syndromes (CPS) depends on identifying risk factors, including tumor type, family history, and physical findings, to prompt referral for genetic counseling/testing. Whether pediatric oncology providers (POPs) collect adequate family history information is unknown. METHODS: A single-institution retrospective chart review of solid tumor patients <18 years of age referred for a CPS evaluation between January 1, 2017 and January 31, 2019 was performed. POP adherence to American Society of Clinical Oncology (ASCO) family history collection recommendations was measured and compared with genetic counselor performance. Whether sufficient family history was documented to satisfy the criteria of three genetic counseling referral guidelines [American College of Medical Genetics (ACMG), updated Jongmans (UJ), and McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG)] was evaluated. RESULTS: POPs and genetic counselors achieved all 6 ASCO family history metrics in 3% and 99% of 129 eligible cases, respectively. POPs failed to document sufficient family history to satisfy genetic counseling referral criteria in most cases (74% ACMG, 73% UJ, 79% MIPOGG). CONCLUSIONS: POPs perform poorly in family history collection, raising concern that some patients at risk for a CPS based on their family history may not be referred for genetic counseling/testing. Interventions to improve family history collection are needed to enhance CPS detection.

Genetic analysis and family screening for dilated cardiomyopathy: a retrospective analysis of the stepwise pedigree approach.

AIMS: This study aimed to assess the practicality of using a stepwise pedigree-based approach to differentiate between familial and sporadic Dilated Cardiomyopathy (DCM), while also considering timing of the genetic analysis. The analysis includes an examination of the extent to which complete family investigations were conducted in real-world scenarios as well as the length of the investigation. METHODS: The stepwise pedigree approach involved conducting a comprehensive family history spanning 3 to 4 generations, reviewing medical records of relatives, and conducting clinical screening using echocardiography and electrocardiogram on first-degree relatives. Familial DCM was diagnosed when at least 2 family members were found to have DCM, and genetic analysis was considered as an option. This study involved a manual review of all DCM investigations conducted at the Centre of Cardiovascular Genetics at Umeå University Hospital, where the stepwise pedigree approach has been employed since 2007. RESULTS: The investigation process had a mean duration of 643 days (95% CI 560.5-724.9). Of the investigations preformed, 94 (68%) were complete, 12 (9%) were ongoing, and 33 (24%) were prematurely terminated and thus incomplete. At the conclusion of the investigations, 55 cases (43%) were classified as familial DCM, 50 (39%) as sporadic DCM, and 22 (18%) remained unassessed due to incomplete pedigrees. Among the familial cases, genetic verification was achieved in 40%. CONCLUSION: The stepwise pedigree approach is time consuming, and the investigations are often incomplete which may suggest that a more direct approach to genetic analysis, may be warranted.

SVEAT score: Acute chest pain risk stratification.

OBJECTIVE: We aimed to compare the predictive ability of the newly introduced Symptoms, history of Vascular disease, Electrocardiography, Age, and Troponin (SVEAT) score with the widely used History, ECG, Age, Risk factors, and Troponin I (HEART) score in risk stratification for 30-day major adverse cardiac events (MACE) development among patients presenting to the emergency department with acute chest pain complaints. METHODS: This prospective, observational, single-center study was conducted at an emergency department of a tertiary care hospital between June 2022 and January 2023. We recruited all adult patients aged 24 years and above with a primary complaint of non- traumatic chest pain at the critical care unit of the Emergency Department. INCLUSION CRITERIA: Patients aged 24 years and above with a primary complaint of chest pain lasting >5 min. EXCLUSION CRITERIA: Patients with STEMI, pregnant individuals, those with traumatic chest pain, and those without 30-day MACE data were excluded. HEART and SVEAT scores were calculated for each participant.The performance of the SVEAT score in identifying the low-risk patient group was compared to that of the HEART score. RESULTS: In the study, out of 809 patients, 589 (72.8%) were categorized as low-risk based on the SVEAT score, and 377 (46.6%) based on the HEART score. Out of these 809 patients, 115 (14.2%) experienced MACE. Within the group classified as low risk by the SVEAT score, 6 (0.7%) patients experienced MACE, while within the group classified as low risk by the HEART score, 8 (1%) patients experienced MACE. The SVEAT score had an Area Under the Curve (AUC) of 0.916 (95% CI 0.890 to 0.942), which was found to be higher than the AUC of the HEART score (0.856, 95% CI 0.822 to 0.890). In our study, the sensitivity of the SVEAT and HEART scores was found to be 94.7% (95% CI 88.9%-98.0%) and 93.0% (95% CI 86.7%-96.9%), respectively. The specificity of both scores was 84.1% (95% CI 81.0%-86.6%) and 53.17% (95% CI 49.3%-56.6%), respectively. CONCLUSION: While our study indicated a higher predictive power for MACE development with the SVEAT score compared to the HEART score, further extensive studies are necessary for its reliable implementation in emergency departments for chest pain risk classification.

Additive interaction of family medical history of diabetes with hypertension on the diagnosis of diabetes among older adults in India: longitudinal ageing study in India.

BACKGROUND: The present study aimed to estimate the additive interaction of family history of diabetes and hypertension on the diagnosis of diabetes among individuals aged 45 years and above in India. The coexistence of these two exposures may act synergistically on the risk of diabetes, leading to adverse health outcomes. METHODS: The study utilized the data from the Longitudinal Ageing Study in India (LASI) Wave 1 (2017-2018). The total sample size for the current study was 58,612 individuals aged 45 years and above. Multivariable logistic regression models were employed to determine the individual and joint effect of a family history of diabetes with hypertension on diabetes. An additive model was applied to assess the interaction effect of the family medical history of diabetes with hypertension on the diagnosis of diabetes by calculating three different measures of additive interaction such as the relative excess risk ratio (RERI), attribution proportion due to interaction (AP), and synergy index (S). RESULTS: The prevalence of diabetes was three times higher among individuals with family history of diabetes (27.8% vs. 9.2%) than those without family history. Individuals with family history of diabetes (AOR: 2.47, CI: 2.11 2.89) had 2.47 times higher odds of having diabetes than those without family history. The prevalence of diabetes was significantly higher among individuals with hypertension and family history of diabetes (46.6%, 95% CI: 39.7-53.6) than those without the coexistence of family history of diabetes and hypertension (9.9%, 95% CI: 9.5-10.4), individuals with hypertension and without a family history of diabetes (22.7%, 95% CI: 21.2-24.2), and individuals with family history of diabetes and without hypertension (16.5%, 95% CI: 14.5-18.7). Moreover, the adjusted odds ratio (AOR) of the joint effect between family medical history of diabetes and hypertension on diabetes was 9.28 (95% CI: 7.51-11.46). In the adjusted model, the RERI, AP, and S for diabetes were 3.5 (95% CI: 1.52-5.47), 37% (0.37; 95% CI: 0.22-0.51), and 1.69 (95% CI: 1.31-2.18) respectively, which indicates that there is a significant positive interaction between family history of diabetes and hypertension on the diagnosis of diabetes. The study findings on interaction effects further demonstrate consistent results for two models of hypertension (self-reported hypertension and hypertensive individuals receiving medication) even after adjustment with potential confounding factors on diabetes (self-reported diabetes and individuals with diabetes receiving medication). CONCLUSIONS: The study findings strongly suggest that the interaction of family history of diabetes with hypertension has a positive and significant effect on the risk of diabetes even after adjustment with potential confounding factors. Furthermore, the findings indicate a synergistic effect, emphasizing the importance of considering both family medical history of diabetes and hypertension when assessing diabetes risk and designing preventive strategies or interventions.

Comprehensive periodic health evaluations of 454 Norwegian Paralympic and Olympic athletes over 8 years: what did we learn?

OBJECTIVE: A periodic health evaluation (PHE) is a comprehensive and multidisciplinary investigation of athlete health widely used in elite sport, but its contents and benefits can be questioned. This study aimed to determine the prevalence of conditions identified by a PHE among Paralympic and Olympic athletes over four consecutive Games cycles from Rio de Janeiro 2016 to Beijing 2022 and to assess the benefits and potential pitfalls of a comprehensive PHE programme in detecting existing injuries, illnesses and other health issues. METHODS: We collected extensive health history and clinical examination data on elite athletes: medical history, ECG, blood pressure, blood samples, spirometry, musculoskeletal health, cognitive function, mental health and compliance with public health programmes. RESULTS: The final cohort included 87 Paralympic and 367 Olympic athletes, representing 565 PHE cycles. Musculoskeletal problems and unspecified pain, infections and allergies were the most frequent health issues. High blood pressure was the most prevalent cardiovascular finding, and vitamin D deficiency the most common laboratory abnormality. Most athletes complied with the public childhood vaccination programmes, but fewer with recommended cancer screening. Follow-up of health issues was variable. CONCLUSION: Our PHE programme identified musculoskeletal problems, infections, allergies, elevated blood pressure and vitamin D deficiency as common health conditions. Longitudinal follow-up of health conditions identified during screening and improved compliance with public health and cancer screening programmes is needed to determine the true benefits of athlete care prompted by the PHE.

A computational clinical decision-supporting system to suggest effective anti-epileptic drugs for pediatric epilepsy patients based on deep learning models using patient's medical history.

BACKGROUND: Epilepsy, a chronic brain disorder characterized by abnormal brain activity that causes seizures and other symptoms, is typically treated using anti-epileptic drugs (AEDs) as the first-line therapy. However, due to the variations in their modes of action, identification of effective AEDs often relies on ad hoc trials, which is particularly challenging for pediatric patients. Thus, there is significant value in computational methods capable of assisting in the selection of AEDs, aiming to minimize unnecessary medication and improve treatment efficacy. RESULTS: In this study, we collected 7,507 medical records from 1,000 pediatric epilepsy patients and developed a computational clinical decision-supporting system for AED selection. This system leverages three multi-channel convolutional neural network (CNN) models tailored to three specific AEDs (vigabatrin, prednisolone, and clobazam). Each CNN model predicts whether a respective AED is effective on a given patient or not. The CNN models showed AUROCs of 0.90, 0.80, and 0.92 in 10-fold cross-validation, respectively. Evaluation on a hold-out test dataset further revealed positive predictive values (PPVs) of 0.92, 0.97, and 0.91 for the three respective CNN models, representing that suggested AEDs by our models would be effective in controlling epilepsy with a high accuracy and thereby reducing unnecessary medications for pediatric patients. CONCLUSION: Our CNN models in the system demonstrated high PPVs for the three AEDs, which signifies the potential of our approach to support the clinical decision-making by assisting doctors in recommending effective AEDs within the three AEDs for patients based on their medical history. This would result in a reduction in the number of unnecessary ad hoc attempts to find an effective AED for pediatric epilepsy patients.

Delivering clinical tutorials to medical students using the Microsoft HoloLens 2: A mixed-methods evaluation.

BACKGROUND: Mixed reality offers potential educational advantages in the delivery of clinical teaching. Holographic artefacts can be rendered within a shared learning environment using devices such as the Microsoft HoloLens 2. In addition to facilitating remote access to clinical events, mixed reality may provide a means of sharing mental models, including the vertical and horizontal integration of curricular elements at the bedside. This study aimed to evaluate the feasibility of delivering clinical tutorials using the Microsoft HoloLens 2 and the learning efficacy achieved. METHODS: Following receipt of institutional ethical approval, tutorials on preoperative anaesthetic history taking and upper airway examination were facilitated by a tutor who wore the HoloLens device. The tutor interacted face to face with a patient and two-way audio-visual interaction was facilitated using the HoloLens 2 and Microsoft Teams with groups of students who were located in a separate tutorial room. Holographic functions were employed by the tutor. The tutor completed the System Usability Scale, the tutor, technical facilitator, patients, and students provided quantitative and qualitative feedback, and three students participated in semi-structured feedback interviews. Students completed pre- and post-tutorial, and end-of-year examinations on the tutorial topics. RESULTS: Twelve patients and 78 students participated across 12 separate tutorials. Five students did not complete the examinations and were excluded from efficacy calculations. Student feedback contained 90 positive comments, including the technology's ability to broadcast the tutor's point-of-vision, and 62 negative comments, where students noted issues with the audio-visual quality, and concerns that the tutorial was not as beneficial as traditional in-person clinical tutorials. The technology and tutorial structure were viewed favourably by the tutor, facilitator and patients. Significant improvement was observed between students' pre- and post-tutorial MCQ scores (mean 59.2% Vs 84.7%, p < 0.001). CONCLUSIONS: This study demonstrates the feasibility of using the HoloLens 2 to facilitate remote bedside tutorials which incorporate holographic learning artefacts. Students' examination performance supports substantial learning of the tutorial topics. The tutorial structure was agreeable to students, patients and tutor. Our results support the feasibility of offering effective clinical teaching and learning opportunities using the HoloLens 2. However, the technical limitations and costs of the device are significant, and further research is required to assess the effectiveness of this tutorial format against in-person tutorials before wider roll out of this technology can be recommended as a result of this study.

Virtual patients versus standardized patients for improving clinical reasoning skills in ophthalmology residents. A randomized controlled trial.

BACKGROUND: History taking and clinical reasoning are important skills that require knowledge, cognition and meta-cognition. It is important that a trainee must experience multiple encounters with different patients to practice these skills. However, patient safety is also important, and trainees are not allowed to handle critically ill patients. To address this issue, a randomized controlled trial was conducted to determine the effectiveness of using Virtual Patients (VP) versus Standardized Patients (SP) in acquiring clinical reasoning skills in ophthalmology postgraduate residents. METHODS: Postgraduate residents from two hospitals in Lahore, Pakistan, were randomized to either the VP group or the SP group and were exposed to clinical reasoning exercise via the VP or SP for 30 min after the pretest. This was followed by a posttest. One month after this activity, a follow-up posttest was conducted. The data were collected and analysed using IBM-SPSS version 25. Repeated measures ANOVA was used to track the effect of learning skills over time. RESULTS: The mean age of the residents was 28.5 ± 3 years. The male to female ratio was 1:1.1. For the SP group, the mean scores were 12.6 ± 3.08, 16.39 ± 3.01 and 15.39 ± 2.95, and for the VP group, the mean scores were 12.7 ± 3.84, 16.30 ± 3.19 and 15.65 ± 3.18 for the pretest, posttest and follow-up posttest, respectively (p value < 0.00). However, the difference between the VP and SP groups was not statistically significant (p = 0.896). Moreover, there was no statistically significant difference between the VP and SP groups regarding the retention of clinical reasoning ability. In terms of learning gain, compared with the VP group, the SP group had a score of 51.46% immediately after clinical reasoning exercise as compared to VP group, in which it was 49.1%. After one month, it was 38.01 in SP and 40.12% in VP group. CONCLUSION: VPs can be used for learning clinical reasoning skills in postgraduate ophthalmology residents in a safe environment. These devices can be used repeatedly without any risk to the real patient. Although similarly useful, SP is limited by its nonavailability for repeated exercises.

Healthcare professional students' skills in sexual health communication and history taking: inter-rater reliability of standardized patients and faculty ratings in dar es Salaam, tanzania- a cross-sectional study.

BACKGROUND: Low- and middle-income countries face a disproportionate impact of sexual health problems compared to high-income countries. To address this situation proper interpersonal communication skills are essential for clinician to gather necessary information during medical history-taking related to sexual health. This study aimed to evaluate the interrater reliability of ratings on sexual health-related interpersonal communication and medical history-taking between SPs and trained HCP faculty for health care professional students. METHODS: We conducted a cross-sectional comparative study to evaluate the interrater reliability of ratings for sexual health-related interpersonal communication and medical history-taking. The data were collected from medical and nursing students at Muhimbili University of Health and Allied Sciences, who interviewed 12 Standardized Patients (SPs) presenting with sexual health issues. The video-recorded interviews rated by SPs, were compared to the one rated by 5 trained Health Care Professional (HCP) faculty members. Inter-rater reliability was evaluated using percent agreement (PA) and kappa statistics (κ). RESULTS: A total of 412 students (mean age 24) were enrolled in the study to conduct interviews with two SPs presenting with sexual health concerns. For interpersonal communication (IC), the overall median agreement between raters was slight (κ2 0.0095; PA 48.9%) while the overall median agreement for medical sexual history-taking was deemed fair (κ2 0.139; PA 75.02%). CONCLUSION: The use of SPs for training and evaluating medical and nursing students in Tanzania is feasible only if they undergo proper training and have sufficient time for practice sessions, along with providing feedback to the students.

[Diagnostic workup for polyneuropathy]. / Diagnostische Abklärung bei Polyneuropathie.

Polyneuropathy is a disease of the peripheral nervous system that usually results in distally emphasized, often symmetrical sensory and motor stimulation and deficits. These are often extremely painful. They can be divided into hereditary and acquired causes; inflammatory and infectious causes should be further differentiated among the acquired causes. A careful diagnostic workup is essential. Clinical signs and distribution patterns of symptoms can often already provide clues to the underlying aetiology. This review describes this workup, which in addition to the medical history and clinical examination always includes thorough laboratory diagnostics, electrophysiological examination and cerebrospinal fluid diagnostics. In individual cases, further diagnostic steps may be necessary in order to make the correct diagnosis.

Efficacy of Community Health Worker-Delivered Family Health History-Based Breast Cancer Education and Services Among Chinese Americans.

Family health history (FHH) is an evidence-based genomics tool used in cancer prevention and education. Chinese Americans, the largest Asian American group, face unique barriers in FHH collection and communication. This study aimed to evaluate the efficacy of culturally and linguistically appropriate community health worker (CHW)-delivered FHH-based breast cancer (BC) education and services to Chinese Americans. A total of 1129 Chinese Americans received FHH-based BC education and service delivered by our trained Chinese American CHWs. Participants responded to evaluation surveys before, immediately after, and 3 months after the education and service. Participating Chinese Americans showed significant increases in rates of collecting FHH of BC, discussing FHH of BC with family members, informing their primary care physicians of their FHH of BC, and discussing their FHH of BC with their primary care physicians at 3 months post-education and service compared to the baseline data (all Ps < 0.01). Attitudes, intention, and self-efficacy related to FHH of BC communication and collection and FHH of BC knowledge were improved both immediately after and 3 months after the delivery of the education and services (all Ps < 0.01). Within 3 months, ~ 14.3% of participants who had a high risk of BC based on FHH reported visiting geneticists for genetic evaluation. Our Chinese American CHW-delivered FHH-based BC education and services showed initial success in increasing knowledge, collection and communication of BC-related FHH, and genetic service utilization among Chinese American participants. This study can serve as a starting point for conducting more robust studies, such as randomized controlled trials, in the future.

The accuracy of self-reported family history in glaucoma in Brazil.

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.

Assessment and examination of the respiratory system.

This article aims to outline the fundamental principles of consultations with and clinical assessments of patients with symptoms that may be indicative of respiratory system pathology. The article explores how to perform a respiratory system-focused patient history and physical examination. An evaluation of clinical 'red flags' to reduce the risk of omitting serious illness is also considered, alongside the exploration of features of respiratory pathology and evidence-based clinical decision-making tools that may be used to support clinical diagnosis.

An Online Survey of Australian Medical Students' Perspectives on Spiritual History Taking and Spiritual Care.

It is reported that little spiritual care communication skills training occurs in Australian medical schools. This survey explored the experience of final year students in this domain in order to inform the construction of a new curriculum. Medical students in their final year at four Australian medical schools were invited to participate in an online survey, which included questions about demographic details, exposure to spiritual history taking, perceived learning needs, and the Functional Assessment of Chronic Illness Therapy-Spiritual Well-being 12 item Non-Illness score. Two-hundred and sixty students from a cohort of 766 responded (34%). One in nine students had witnessed spiritual history taking, and one in ten students had been given the opportunity to do so. Barriers and enablers were identified. Two-thirds of the students reported no recollection of any training in spiritual care. When it did occur, it was limited in scope and structure. Final year medical students recognise that spiritual care deserves a place in the modern, broad-based medical school curriculum. This supports the argument for inclusion of spiritual care training as part of all medical student curricula in Australia.