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BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing.MethodsThe SDY Case Registry is a National Institutes of Health/Centers for Disease Control surveillance effort to discern the prevalence, causes, and risk factors for SDY. The SDY Case Registry prospectively collected clinical data and DNA biospecimens from SDY cases ResultsThe SDY cohort was 42% European, 30% African, 17% Hispanic, and 11% with mixed ancestries, and 39% female. Six percent of the cohort was found to harbor a pathogenic or likely pathogenic genetic variant in an epilepsy, cardiomyopathy or arrhythmia gene. The genomes of SDY cases, but not controls, were enriched for rare, damaging variants in epilepsy, cardiomyopathy and arrhythmia-related genes. A greater number of rare epilepsy genetic variants correlated with younger age at death.ConclusionsWhile damaging cardiomyopathy and arrhythmia genes are recognized contributors to SDY, we also observed an enrichment in epilepsy-related genes in the SDY cohort, and a correlation between rare epilepsy variation and younger age at death. These findings emphasize the importance of considering epilepsy genes when evaluating SDY.

This international multidisciplinary document intends to provide clinicians with evidence‐based practical patient‐centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.

Background. The Performance Assessment of Self-Care Skills (PASS) is a standardized assessment of the ability to perform daily activities. Purposes. This preliminary exploratory study aimed to 1) explore the ability of four PASS tasks to predict adverse events (readmissions and injuries) in older adults following hospitalization; 2) compare PASS's predictive validity to that of a generic tool (SMAF) and OT clinical judgement. Method.Twenty-two older patients were assessed in hospital at discharge and at home one week later. Adverse events were documented for six months post-discharge. Sensitivity and specificity analyses (ROC curves, Fisher's exact tests) were performed. Findings. Two PASS tasks (telephone, medication), the SMAF-Social and OT clinical judgement could identify individuals at risk of readmission (AUC > 0.7; p < 0.05). Implications. Using the PASS to assess more cognitively demanding tasks could be a promising way to predict adverse events after discharge, as a complement to clinical judgment.

BACKGROUND AND OBJECTIVES: Clinical evaluation of first-degree relatives of sudden death in the young (SDY) victims is recommended but reports of familial evaluation after SDY in population-based studies are limited. The SDY Case Registry is a prospective registry of sudden deaths in infants and children from multiple United States jurisdictions. Our objective was to describe familial evaluation after sudden death in this cohort. METHODS: Family members of the SDY Case Registry were invited to participate in the family substudy. Consented participants entered information about the decedent and personal medical history into an electronic database. First-degree relatives of noninfant SDY cases were informed of published recommendations for clinical evaluation and were provided with contact information for local inherited heart disease clinics. Saliva kits were mailed to participants for DNA sample collection. RESULTS: In total, 82 relatives of 44 SDY Registry cases (26 infants, 17 children, 1 unknown age) enrolled in the study. A copy of the medical examiner’s report was obtained from 20 (45%) cases. At the time of contact, only 26% were planning to see a physician because of the sudden death of the relative. A total of 62 (76%) participants provided DNA samples, but clinical records were uploaded by only 6 (14%) families. No new diagnoses of inherited diseases were identified with family screening. CONCLUSIONS: In a population-based registry of SDY, we found rare uptake of family evaluation, despite published recommendations. Educating families, primary care providers, and medical examiners is needed, including training of personnel who can help families navigate this process.

Background: In 2015, the National Institutes of Health and Centers for Disease Control and Prevention collaborated to create the Sudden Death in the Young (SDY) Case Registry, a population-based surveillance and research initiative. The Registry monitors SDY incidence and identifies characteristics to inform data-driven prevention efforts. Previous analyses using 2015-2017 data identified differences in SDY by race/ethnicity. Further investigation into SDY demographics and the circumstances at death by race/ethnicity may help identify reasons for disparities and priority areas for future research. Objective: To explore racial/ethnic differences in SDY by demographic and circumstantial characteristics. Methods: We analyzed sudden and unexpected deaths that occurred during 2015-2019 among infants ( vehicle accidents and drownings, and those missing race/ethnicity (n=15). We reported percentages and performed χ 2 tests to assess differences in demographic and circumstantial characteristics by race/ethnicity. Results: Among 1,370 SDY cases included, 46% were non-Hispanic White (NHW), 35% non-Hispanic Black (NHB), 10% Hispanic, and 9% non-Hispanic other (NHO). Most occurred among infants (68%), and most infants (92%) were sleeping at the time of the incident. Among children, sleeping at the time of the incident ranged from 45% for NHW to 29% for Hispanic (P Conclusion: Our findings show that among SDY, there are key demographic and circumstantial differences by race/ethnicity: NHW children were more likely to be sleeping at the time of the incident, and NHW infants/children more commonly had metabolic and genetic testing. This analysis contextualizes the racial/ethnic differences in SDY, offering focus for further research and prevention efforts.

Background Thorough investigation of sudden cardiac death (SCD) in those aged 1–40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. Objective The purpose of this study was to explore practices of postmortem genetic testing and attitudes of health care professionals worldwide. Methods A survey was administered among health care professionals recruited through professional associations, social media, and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in health care professionals’ ability, and attitudes toward postmortem genetic testing practices. Results There were 112 respondents, with 93% from North America, Europe, and Australia/New Zealand, and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case by case and not standardized. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%; P = .002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members. Financial resources varied widely. Half of participants believed practices in their countries perpetuated health inequalities. Conclusion Postmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, which is critical in ascertaining a cause of death in many cases, must be guided by well-resourced, multidisciplinary teams.

Introduction: Postmortem genetic testing (PMGT) can provide valuable information about an individual’s cause of death and potentially allow at-risk relatives to discern their risks for inherited cardiac disease. Postmortem genetic testing is most often successful with certain specimens. Methods: Investigators collected data on postmortem referrals to GeneDx, LLC for PMGT. Orders were reviewed and stratified based on provider, specimen type, and tests ordered. Discussion: This cohort included 601 deceased individuals referred for PMGT with a total of 673 genetic tests ordered from 247 different providers. The most common test categories ordered were arrhythmia (33.4%) and cardiomyopathy (29.3%). A likely pathogenic or pathogenic genetic variant was identified in approximately 15% of patients. Blood in EDTA was received for 21.6% of patients with a 95% success rate for completion of all test components. Blood samples in EDTA were most successful in completing PMGT, but sequencing was still successful in the majority of suboptimal specimens. Conclusion: The use of PMGT is increasing. Obtaining optimal samples (blood in EDTA) is important for successful completion of genetic testing. Obstacles may still exist for obtaining and storing ideal specimens. Continued efforts are needed for education and awareness around appropriate specimen types, storage and shipping of specimens, DNA banking, and overall availability of PMGT. In addition, access to resources such as supplies, proper storage conditions, DNA banking, and PMGT will allow for more opportunities to complete testing.

PurposeThorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide.MethodsA survey was administered among healthcare professionals recruited through professional associations, social media and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in healthcare professionals’ ability, and attitudes towards postmortem genetic testing practices.ResultsThere were 112 respondents, with 93% from North America, Europe and Australia and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case-by-case and not standardised. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%, p=0.002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members; financial resources varied widely. Half believed practices in their countries perpetuated health inequalities.ConclusionPostmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, guided by well-resourced multidisciplinary teams, is critical in ascertaining a cause of death in many cases.

Objective: To describe epidemiologic data from the Sudden Death in the Young (SDY) Case Registry. Understanding the scope of SDY may optimize prevention efforts. Study design: We analyzed sudden, unexpected deaths of infants (

A significant portion of sudden death cases result from an underlying genetic etiology, which may be determined through postmortem genetic testing. The National Association of Medical Examiners (NAME) recommends that an appropriate postmortem sample is saved on all sudden death cases under the age of 40. Genetic counselors (GCs) play an important role in this process by working with medical examiners and coroners (ME/Cs) to recommend and interpret specific testing and to guide family members. A survey sent to the National Society of Genetic Counselors was designed and implemented to learn more about the experiences of genetic counselors who had considered or ordered postmortem genetic testing. Results showed that cardiovascular GCs were significantly more willing to recommend genetic testing in younger age decedents (ages 10, 18, 30, 40, and 50) compared to other specialty GCs ( p

The Sudden Death in the Young (SDY) Case Registry, a prospective, population-based registry active in ten states, has developed tools to aid pathologists and death investigators in the evaluation and autopsy of unexplained, natural sudden deaths in the pediatric population. The tools were developed by a team of experts representing forensic pathology; pediatric-, cardiac-, and neuropathology; cardiology; neurology/epileptology; pediatrics; genetic counseling; and public health. These tools focus on collecting data relevant to determination of cause of death with a focus on dissection of the cardiovascular system. The tools provide an objective checklist format for ease of use and data extraction. By sharing the tools here and highlighting the examination of the cardiovascular system, the SDY Case Registry encourages a standardized approach to death investigation, autopsy, and data collection for sudden, unexpected deaths in the young towards a goal of informing prevention efforts. Acad Forensic Pathol. 2018 8(2): 347-391

Improving or maintaining visual acuity is the main goal for the treatment of neovascular age-related macular degeneration (nAMD). Current nAMD standard of care dictates frequent intravitreal (IVT) anti-vascular endothelial growth factor (VEGF) injections, which places a substantial burden on patients, caregivers, and physicians. Brolucizumab, a newly developed anti-VEGF molecule for nAMD treatment, has demonstrated longer durability and improvement in visual and anatomic outcomes in clinical studies in a q12-week regimen, indicating its potential to reduce treatment burden as an important therapeutic tool in nAMD management. This review focuses on the development of brolucizumab and the preclinical and clinical studies evaluating its efficacy, tolerability, and safety. Brolucizumab (also known as "RTH258" and "ESBA1008") is a humanized, single-chain variable fragment (scFv) antibody with a molecular mass of approximately 26 kDa that inhibits VEGF-A. Preclinical studies show that brolucizumab readily penetrates the retina to reach the retinal pigment epithelium (RPE)/choroid with minimal subsequent systemic exposure. The safety, tolerability, and efficacy of a single IVT brolucizumab administration in patients with treatment-naive nAMD were first demonstrated in the SEE Phase 1/2 study. The OSPREY Phase 2 study showed brolucizumab to be as efficacious as aflibercept in a q8-week regimen with regard to best-corrected visual acuity (BCVA) and brolucizumab achieving greater fluid resolution. Brolucizumab-treated patients in the OSPREY study were subsequently challenged with a q12-week dosing interval, and the outcomes provided key information for the study design and end points of the Phase 3 studies. In the HAWK and HARRIER Phase 3 studies, after 3 monthly loading injections, brolucizumab treatment regimen (q12-week or q8-week) was guided by individual disease activity assessment using functional and anatomic parameters (central subfield thickness [CST], intraretinal fluid [IRF], or subretinal fluid [SRF]) versus aflibercept (q8-week). Fewer brolucizumab 6-mg treated eyes had disease activity versus aflibercept, and anatomic outcome results at weeks 16 and 48 demonstrate brolucizumab as a potent drying agent. Moreover, of patients treated with 6 mg brolucizumab, 55.6% and 51.0% maintained a q12-week dosing interval immediately after the loading phase until week 48 in HAWK and HARRIER, respectively. These Phase 3 studies demonstrated that the brolucizumab q12-week regimen maintains efficacy and safety while reducing treatment burden associated with regular IVT injections for patients with nAMD.

Purpose of Review Genetic counseling is an increasingly important component of cardiovascular care in the era of precision medicine.

Older adults are increasingly choosing to stay and age in their home or other place where they normally live, even when a change in their health reduces their ability to live independently creating concerns about their safety. In this context, community practitioners need to be aware of risk assessment and management strategies as they support their clients’ choices when safety is a concern. This requires an understanding of living at risk and an ability to evaluate the client’s risk status. This article is based on a qualitative research study in which we interviewed 12 Canadian community practitioners in 2012 and explored how they defined, perceived, assessed and managed risk and how they balanced their client’s safety and autonomy. We used a grounded theory methodology to collect and analyse the data. We found that participants tended to define living at risk as a judgement about a client’s impairment within an environment that can cause an event that has an increased potential for a negative consequen...

Laboratory genetic counselors work in many different laboratory settings that can represent a variety of clinical specialties. This chapter explores the various types of laboratories and their resulting business relationships. Genetic counselors working in a laboratory will build important relationships with colleagues from within their own company as well as competitors, clients, and others they work with externally. The laboratory’s specialty and its setting will determine who their clients are and is also directly related to their business model. CPT codes and billing and reimbursement issues are also reviewed in this chapter. The size and success of different billing and reimbursement strategies will ultimately affect the services a laboratory offers as well as how the counselor’s roles will develop in that setting.

Knowledge gaps persist about the incidence of and risk factors for sudden death in the young (SDY). The SDY Case Registry is a collaborative effort between the National Institutes of Health, the Centers for Disease Control and Prevention, and the Michigan Public Health Institute. Its goals are to: (1) describe the incidence of SDY in the United States by using population-based surveillance; (2) compile data from SDY cases to create a resource of information and DNA samples for research; (3) encourage standardized approaches to investigation, autopsy, and categorization of SDY cases; (4) develop partnerships between local, state, and federal stakeholders toward a common goal of understanding and preventing SDY; and (5) support families who have lost loved ones to SDY by providing resources on bereavement and medical evaluation of surviving family members. Built on existing Child Death Review programs and as an expansion of the Sudden Unexpected Infant Death Case Registry, the SDY Case Registry achieves its goals by identifying SDY cases, providing guidance to medical examiners/coroners in conducting comprehensive autopsies, evaluating cases through child death review and an advanced review by clinical specialists, and classifying cases according to a standardized algorithm. The SDY Case Registry also includes a process to obtain informed consent from next-of-kin to save DNA for research, banking, and, in some cases, diagnostic genetic testing. The SDY Case Registry will provide valuable incidence data and will enhance understanding of the characteristics of SDY cases to inform the development of targeted prevention efforts.

Sudden cardiac death is a tragic result of a number of cardiovascular diseases. While the majority of sudden cardiac death cases are in older individuals with coronary artery disease, victims also include younger people (those less than 40 years old). At least 40% of cases of young sudden death are attributable to genetic causes, including diagnoses such as long QT syndrome and hypertrophic cardiomyopathy. In 50% of young sudden death cases, there are no warning signs or family history of sudden death. These young sudden deaths are a tragedy for families and in many cases are devastating for communities as well. Awareness is spreading among medical examiners and cardiologists on how to assess and treat these families but few healthcare providers see cases routinely. The combination of an unexpected death and the burden of potentially having a genetic disease themselves leaves family members in a vulnerable and often overwhelming position. Genetic counselors, particularly those who specialize in cardiovascular disease, are uniquely qualified to help surviving family members navigate the medical and psychosocial issues present in these cases.

Sudden unexpected death is typically diagnosed in infants, children, teenagers, and young adults following completion of an autopsy that fails to identify a cause of death or when autopsy suggests a potentially genetic cause of death in an individual less than 40, such as cardiomyopathy or aneurysm. Such deaths may be a result of genetic abnormalities that are unable to be diagnosed by gross or microscopic inspection, but may be detectable by molecular studies. Unfortunately, the ability to perform postmortem genetic testing is frequently hindered by lack of an appropriate specimen following completion of an autopsy. This paper provides recommendations developed by the National Association of Medical Examiners with the assistance of genetic counselors. The recommendations establish procedures to facilitate postmortem genetic testing and DNA banking by health care professionals assisting families who have experienced sudden death in young relatives by clarifying proper sample acquisition and storage. Additionally, recommendations for discussion with surviving family members and test planning are provided. The objective of these recommendations is to ensure that postmortem samples suitable for DNA banking are retained, allowing at risk family members improved detection of potentially treatable genetic diseases.

A 41-year-old male with cardiomyopathy from an inherited β myosin heavy-chain mutation underwent treatment for heart failure with intramyocardial cell transplantation. He received direct injections into his heart of autologous precursor cells isolated from his blood. He immediately suffered ventricular fibrillation. Although he was resuscitated, he experienced a prolonged downward course that prohibited his undergoing transplantation. His autopsy revealed marked fibrosis throughout the myocardium with areas of mononuclear cell infiltrate. This case highlights the potential adverse effects associated with intramyocardial therapy in the cardiomyopathic heart.

This study evaluated the effectiveness of using a family history questionnaire to ascertain patients and families at-risk for inherited cardiovascular disease. A questionnaire composed of 21 questions was developed based on the experience of a cardiovascular genetic counselor. This questionnaire was administered to 39 patients at a University-based cardiology practice reflecting general and specialized aspects of cardiovascular medicine. Using the number and degree of relatedness of relatives reported and limited age of onset information participants were ranked into three familial risk categories. Thirty-nine patients participated in this pilot study. Of the 39 patients, six Mendelian diseases were identified. All individuals surveyed in this study were found to be at high and/or moderate risk for at least one disease based on the family history questionnaire. Twenty-five out of 39 participants (64.1%) were found to be at high risk for at least one cardiovascular disease, and thirty-three out of 39 participants (84.6%) were found to be at moderate risk for at least one disease. A family history of arrhythmia disorders, hypertension, hyperlipidemia, coronary artery disease and diabetes were more likely to be associated with a personal history in family histories of both moderate and high risk. Family history questionnaires in cardiology clinics can be a cost-effective tool for identifying patients and families who are in the greatest need of genetic evaluation and genetic counseling services.

Many patients today have health concerns related to lifestyle factors. This has created a situation where physicians are regularly confronted with the challenge of how to conduct lifestyle counseling with patients. Specific strategies can enable physicians to more effectively navigate this complex area of communication with patients, improving patient response in adopting healthy behaviours and increasing physician satisfaction with this task.To evaluate the impact of a lifestyle counseling workshop incorporating the motivational enhancement and transtheoretical models upon primary care clinicians' counseling practice patterns, especially communication and counseling skills, and attitudes toward lifestyle counseling.This study used a mixed method research design. Forty-three clinicians completed a post-workshop evaluation and identified intended changes to practice following the workshop. Twelve participated in interviews several months later to explore the kinds of changes made and influences upon them.Forty-one (95.3%) questionnaire respondents reported an intention to change their practice. Main changes reported were: asking more questions, listening more, assessing patients' readiness to change, tailoring counseling to patients' readiness to change. They seemed to have acquired and retained new knowledge and most were able to apply the new skills in their practices. Many reported feeling more comfortable and/or confident when interacting with patients in need of lifestyle change. But, time constraints, comfort with current skills, lack of self-efficacy, and fears of missing opportunities to influence patients, moderated participants' ability to adopt and maintain new approaches.While primary care clinicians can successfully learn specific lifestyle counseling skills and incorporate them into their practice following a two-hour evidence-based workshop, individual, educational and system factors can interfere.

Mutations in the gene encoding fukutin related protein (FKRP) produce a spectrum of disease including congenital muscular dystrophy and limb girdle muscular dystrophy. FKRP is one member of a class of molecules thought to be glycosyltransferases that mediate O-linked glycosylation. The primary target of these glycosyltransferases is thought to be dystroglycan. We now report two unrelated Mexican children with congenital muscular dystrophy who each have the identical, novel 1387A>G, N463D mutation. Muscle biopsies from these children show a reduction of alpha-dystroglycan and also show reduction of beta-dystroglycan, and alpha-, beta-, and gamma-sarcoglycan, suggesting that FKRP mutations can perturb membrane associated proteins beyond dystroglycan.

Forming technically proficient, professional, and humanistic physicians for the 21st century is no easy task. Mountains of biomedical knowledge must be acquired, diagnostic competence achieved, effective communication skills developed, and a solid and applicable understanding of the practice and role of physicians in society today must be reached. The central experience for learners in this complex and challenging terrain is the "modeling of" and "learning how to be" a caregiver and health professional. Role modeling remains one crucial area where standards are elusive and where repeated negative learning experiences may adversely impact the development of professionalism in medical students and residents. The literature is mainly descriptive, defining the attributes of good role models from both learners and practitioners' perspectives. Because physicians are not "playing a role" as an actor might, but "embodying" different types of roles, the cognitive and behavioral processes associated with successfully internalizing roles (e.g., the good doctor/medical educator) are important. In this article, the authors identify foundational questions regarding role models and professional character formation; describe major social and historical reasons for inattention to character formation in new physicians; draw insights about this important area from ethics and education theory (philosophical inquiry, apprenticeship, situated learning, observational learning, reflective practice); and suggest the practical consequences of this work for faculty recruitment, affirmation, and development.

Introduction Communication skills training (CST) in medicine, once considered a minor subject, is now ranked a core clinical skill. To assess the state of formal and informal CST at Dalhousie Medical School a needs assessment was undertaken in 1997 with the goal of using these findings to plan and implement a new communication skills curriculum. Objectives This article briefly describes the relevant findings of the needs assessment, the subsequent development of an integrated cross curriculum CST programme, and early programme evaluation results. Method Surveys were completed by undergraduates at the end of pre-clinical (na 65), and clinical phases (na 82), residents (na 54), and faculty (na 117). Results revealed learners’ and faculty’s appreciation of the importance of CST, learners’ assessment of training weaknesses in the delivery of CST, learners’ weakness in higher order patient‐doctor communication skills, and faculty weakness in assessing learners’ communication skills competency. The results also indicated that CST was generally not being addressed either formally or informally in clinical medical education. Results The paper describes and discusses the subsequent implementation (beginning in 1998) of CST into the medical school curriculum. There is a description of programme development and evaluation at the preclinical, clerkship and postgraduate levels, a description and discussion of faculty development, and discussion of the importance of financial and administrative support for the programme.

Setting Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada. Objectives (1) To assess the attitudes of full-time clinical faculty members towards medical communication using the newly developed Attitudes Towards Medical Communication Scale; (2) to determine faculty members’ perceptions of communications training for students and residents. Methods An anonymous self-completion survey was sent to 233 full-time clinical faculty members. The questionnaire asked about faculty attitudes towards medical communication, and assessed faculty members’ views of student and resident training in communication. Results Faculty scored highly in the Attitudes Towards Medical Communication Scale, with a mean score of 51·5 (SD 4·1) out of a possible 60. In univariate analysis, rating of personal enjoyment of teaching, rating of the importance of teaching, and having attended at least one faculty communications workshop in the previous 5 years were significantly associated with higher scale scores. When these factors were assessed using linear regression, only having attended a workshop and higher rating of the importance of teaching remained significant. Faculty assessed student training in communications skills poorly overall. When assessing seven specific communications areas, more than 20% rated this training as poor for six of the areas for third- and fourth-year students and for five of the areas for residents. Conclusions Clinical faculty at Dalhousie have very positive attitudes towards medical communication, and more highly positive attitudes are found in those who have attended a communications workshop. Despite this evidence that faculty appreciate the importance of medical communication skills, many assessed students’ training in this curriculum area as poor.

Atopic individuals are predisposed to mounting vigorous Th2-type immune responses to environmental allergens. To determine the factors responsible, animal models that closely mimic natural modes of allergen exposure should prove most informative. Therefore, we investigated the role of IL-4, a known Th2-promoting cytokine, in generation of Th2 responses after exposure of either the skin or airway to soluble protein. Compared with wild-type (WT) mice, IL-4-deficient (IL-4(-/-)) mice showed markedly impaired Th2 activation after primary exposure to inhaled ovalbumin (OVA), with decreased OVA-specific IgG1 and IgE, and significantly fewer eosinophils in bronchoalveolar lavage (BAL) fluid after airway challenge. In contrast, IL-4(-/-) mice initially exposed to epicutaneous (e.c.) OVA mounted Th2 responses equivalent to responses in WT mice, with high numbers of eosinophils in BAL fluid. Because Th2 responses were not induced by e.c. OVA exposure in Stat6(-/-) mice (mice lacking signal transducer and activator of transcription 6), the role of IL-13 was tested. In vivo depletion of IL-13 prevented Th2 responses induced by e.c. OVA exposure in IL-4(-/-) mice. These data demonstrate a marked difference in the IL-4 dependence of Th2 responses generated at two anatomic sites of natural allergen encounter and identify the skin as a particularly potent site for Th2 sensitization.

Objectives The purpose of this research was to determine the phenotypic spectrum associated with phospholamban gene (PLN) mutations. Background Inheritance contributes to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have been associated with dilated cardiomyopathy characterized by early onset and the presence of lethal ventricular arrhythmias. Methods We screened a cohort of 260 unrelated dilated cardiomyopathy patients from a tertiary care referral center for mutations in the PLN gene. Results Family history of cardiomyopathy was present in approximately one-half the individuals in this cohort. We identified 1 family with a deletion of arginine 14 in the PLN. Interestingly, unlike other individuals reported with the identical PLN mutation, these individuals were not diagnosed with dilated cardiomyopathy until their seventh decade when they were only mildly symptomatic with congestive heart failure. Conclusions The identical PLN mutation can be associated with both mild and severe forms of dilated cardiomyopathy. Additionally, PLN mutations should be considered in late onset cardiomyopathy. (Genetics of Cardiovascular and Neuromuscular Disease; http://www.clinicaltrials.gov/ct/show/NCT00138931?order=1 ; NCT00138931)