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PURPOSE: The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. METHODS: Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. RESULTS: Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. CONCLUSION: In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.
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Triagem de Portadores Genéticos , Testes Genéticos , Doença de Tay-Sachs/sangue , Doença de Tay-Sachs/genética , Adulto , Idoso , Feminino , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Judeus/genética , Masculino , Pessoa de Meia-Idade , Saliva/metabolismo , Doença de Tay-Sachs/patologiaRESUMO
Objective: Depression is highly prevalent and associated with increased hospitalisations and mortality among patients with heart failure (HF). This study will evaluate the effectiveness and cost-effectiveness of an online wellbeing program for patients discharged from hospital with acute decompensated heart failure (ADHF) in (i) improving emotional and physical wellbeing, and (ii) decreasing healthcare utilisation. Methods: Two-arm randomised controlled trial. Eligible patients with ADHF will be recruited pre-discharge from two hospitals. Five hundred and seventy participants will be randomised to receive the intervention (online enhanced care program for HF: 'Enhanced HF Care') or usual care. Enhanced HF Care includes health education (11 micro-learning modules) and monitoring of depression and clinical outcomes via fortnightly/monthly surveys for 6 months, with participants offered tailored advice via video email and SMS. Cardiac nurses track real-time patient data from a dashboard and receive automated email alerts when patients report medium- or high-risk levels of depression or clinical symptoms, to action where needed. General practitioners also receive automated alerts if patients report medium- or high-risk survey responses and are encouraged to schedule a patient consultation. Results: Sixty-five participants enrolled to-date. Co-primary outcomes ('Minnesota Living with Heart Failure Questionnaire' Emotional and Physical subscales) and healthcare utilisation (secondary outcome) at 1- and 6-month post-recruitment will be compared between treatment arms using linear mixed effects regression models. Conclusions: This study has the potential to reduce the burden of depression for patients with HF by prioritising urgent mental health needs and clinical symptoms while simultaneously empowering patients with self-care knowledge. Trial registration: The trial was prospectively registered via the Australian New Zealand Clinical Trials Registry: ACTRN12622001289707. Issue date: 4 October 2022.
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BACKGROUND: Influenza A virus has a range of subtypes characterised by the display of particular surface structures and is associated with significant symptoms and a tendency to cause epidemics and pandemics. OBJECTIVE: This article presents a checklist to assist general practitioners in preparing for an influenza pandemic. DISCUSSION: The Australian Federal Government launched 'Exercise Cumpston' in October 2006 to assess Australian pandemic preparedness. The report of the outcomes recommends the integration of general practice into the planning process at a national and jurisdictional level. General practitioners are enthusiastic about receiving further information and training in pandemic preparedness but preparing a general practice to deal with an influenza pandemic is a complex task.
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Surtos de Doenças , Medicina de Família e Comunidade , Implementação de Plano de Saúde , Diretrizes para o Planejamento em Saúde , Vírus da Influenza A , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Austrália/epidemiologia , HumanosRESUMO
BACKGROUND: Sustained volume load due to a patent ductus arteriosus (PDA) leads to cardiac remodeling. Remodeling changes can become pathological and are associated with cardiovascular disease progression. Data on remodeling changes in preterm infants is not available. METHODS: Clinical and echocardiography data were collected in preterm infants <30 weeks gestation on postnatal day 3 and then every 7-14 days until closure of the ductus arteriosus. Images were analyzed using conventional techniques and speckle tracking. Remodeling changes of infants with prolonged (>14 days) exposure to a PDA were compared to control infants without a PDA. RESULTS: Thirty out of 189 infants had prolonged exposure to a PDA. The left heart remodeled to a larger and more spherical shape and thus significantly increased in volume. Most changes occurred in the first 4 weeks, plateaued, and then returned to control values. Systolic function and estimates of filling pressure increased and effective arterial elastance reduced with a PDA, however contractility was unchanged. Wall thickness increased after 4 weeks of increased volume exposure. CONCLUSION: The preterm PDA induces early and significant remodeling of the left heart. A compensated cardiac physiology was seen with preserved systolic function, suggesting adaptive rather than pathological remodeling changes with prolonged exposure to a PDA.
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Permeabilidade do Canal Arterial/fisiopatologia , Ecocardiografia/métodos , Ventrículos do Coração/fisiopatologia , Recém-Nascido Prematuro , Função Ventricular/fisiologia , Remodelação Ventricular , Permeabilidade do Canal Arterial/diagnóstico , Feminino , Seguimentos , Idade Gestacional , Ventrículos do Coração/diagnóstico por imagem , Humanos , Recém-Nascido , Masculino , Fatores de TempoRESUMO
BACKGROUND: Transient bradycardia episodes are common in preterm infants and often secondary to apnea. Decreased ventilation with resultant hypoxemia is believed to be the predominant mechanism. Sudden bradycardias without apnea are also reported, possibly due to vagal stimulation. Point of care ultrasound is used to diagnose and follow cardiovascular complications in preterm infants. Inadvertently, the operator would sometimes capture bradycardia events. This study reports on left ventricular function during such events. METHODS: We retrospectively reviewed our cardiac ultrasound database for bradycardia events. Apical four or three chamber images before, during and after a bradycardia event were analysed with speckle tracking software which provides systolic and diastolic parameters of myocardial motion, deformation and volume. RESULTS: Over a 2year period, 15 bradycardia events were noted in 14 patients with a median gestational age of 26weeks (range 23 to 29). Heart rate decreased by an average of 43% (171/min to 98/min). Myocardial velocity and longitudinal strain rate during the atrial component of diastole were reduced during bradycardia. Longitudinal strain during systole was increased and radial deformation was unchanged. Ventricular volumes and ejection fraction did not change. Most parameters returned to baseline values after the event. Longitudinal systolic strain rate remained lower and stroke volume was 12% higher compared to baseline. CONCLUSION: Parameters of systolic contractility and stroke volume were maintained and parameters of atrial contractility were reduced during mild to moderate bradycardia in preterm infants. Bradycardia reduces total cardiac output with a compensatory increase detected following the event.
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Bradicardia/fisiopatologia , Débito Cardíaco , Recém-Nascido Prematuro/fisiologia , Contração Miocárdica , Bradicardia/diagnóstico por imagem , Bradicardia/epidemiologia , Ecocardiografia , Feminino , Coração/diagnóstico por imagem , Coração/fisiopatologia , Humanos , Recém-Nascido , MasculinoRESUMO
BACKGROUND: Percutaneous device closure is a therapeutic option in patients with presumed stroke complicating paradoxical emboli. Newer devices with lower profiles and potentially reduced thrombogenicity have emerged, such as the Premere PFO occlusion device (St Jude Medical, Inc.); there are limited data on the efficacy and procedural experience with this device. METHODS: We evaluated our initial experience with the Premere device in a contemporary patient cohort, comparing the procedural and intermediate follow-up characteristics with the currently utilized Amplatzer PFO occluder. RESULTS: Both devices were similarly effective in terms of immediate procedural success and defect closure. Procedures using the Premere device tended to be longer and required larger vascular access-sheath sizes; there were also significantly more adverse events in the Premere group (4/29) compared to the Amplatzer group (0/42; P=.02), including 1 retroperitoneal bleed, 2 hematomas, and 1 myocardial infarction. CONCLUSIONS: While the Amplatzer device may offer advantages in terms of safety and procedural simplicity, this in part reflects the early procedural experience with this new device. The Premere and Amplatzer PFO occlusion devices are similarly effective in achieving PFO closure when applied to appropriate anatomy and should be considered complementary when performing such procedures.
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Angioplastia/métodos , Equipamentos e Provisões , Forame Oval Patente/terapia , Dispositivo para Oclusão Septal , Oclusão Terapêutica/instrumentação , Adulto , Idoso , Estudos de Coortes , Ecocardiografia Transesofagiana , Feminino , Seguimentos , Forame Oval Patente/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do TratamentoRESUMO
General practice will play a key role in both prevention and management of an influenza pandemic. Australian pandemic plans acknowledge a role for general practice, but there are few published data addressing the issues that general practitioners and their practices will face in dealing with such a crisis. The outcome will revolve around preparation in three key areas: Definition of the role of general practice within a broad primary care pandemic response, and adequate preparation within general practices so they can play that role well. Planning exercises and forums must include GPs, and rehearsals must include practical experience for general practices and their staff. Local Divisions of General Practice and GP practices can advocate for this, can define their role, and can prepare by using pandemic preparedness checklists; Definition and enactment of communication strategies to facilitate transfer of useful clinical and administrative data from practices and rapid dissemination of information into the community via general practice; Resource provision, which should be centrally funded but locally distributed, with personal protective equipment, vaccines and antivirals readily available for distribution. Resources must include support for human resource management to ensure appropriate health care professionals reach areas of workforce demand. Administrative, clinical and financial resources must be available to train GPs and practices in pandemic awareness and response.