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1.
Clin Case Rep ; 12(4): e8727, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38550738

RESUMO

A high index of suspicion is required for any rapidly expanding lesion in the oral cavity especially when associated with mobility of the dentition.

2.
Br Dent J ; 236(4): 251-260, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38388594

RESUMO

With the proportion of the world population aged over 60 years expected to nearly double to 22% by 2050, health care professionals are faced with the challenge of ensuring they are ready to address this demographic shift. As people age, they are more likely to develop comorbidities which have implications for their oral health. The effects of polypharmacy used to address these underlying health problems can also influence the oral health of older-aged patients. From a clinician's perspective, an awareness of the variety of conditions associated with old age, such as oral-mucosal disease, swellings and manifestations of underlying health conditions, are required to ensure appropriate referral, investigation and management, both in primary and secondary care settings. This article aims to provide the practitioner with an overview of orofacial and oral mucosal conditions commonly encountered with the older patient.


Assuntos
Doenças da Boca , Medicina Bucal , Idoso , Humanos , Pessoa de Meia-Idade , Pessoal de Saúde , Doenças da Boca/diagnóstico , Doenças da Boca/terapia , Saúde Bucal , Encaminhamento e Consulta
3.
J Genet Couns ; 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38197527

RESUMO

The increasing use of genomic sequencing in research means secondary findings (SF) is more frequently detected and becoming a more pressing issue for researchers. This is reflected by the recent publication of multiple guidelines on this issue, calling for researchers to have a plan for managing SF prior to commencing their research. A deeper understanding of participants' experiences and outcomes from receiving SF is needed to ensure that the return of SF is conducted ethically and with adequate support. This review focuses on the uptake and outcomes of receiving actionable SF for research participants. This review included studies from January 2010 to January 2023. Databases searched included Medline, Embase, PsycINFO, and Scopus. Of the 3903 studies identified, 29 were included in the analysis. The uptake of SF ranged between 20% and 97%, and outcomes were categorized into psychological, clinical, lifestyle and behavioral, and family outcomes. The results indicate there is minimal psychological impact from receiving SF. Almost all participants greatly valued receiving SF. These findings highlight considerations for researchers when returning results, including the importance of involving genetic health professionals in consenting, results return process, and ensuring continuity of care by engaging healthcare providers.

4.
Vet Immunol Immunopathol ; 267: 110691, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38056066

RESUMO

Preventative anti-cancer vaccination strategies have long been hampered by the challenge of targeting the diverse array of potential tumor antigens, with successes to date limited to cancers with viral etiologies. Identification and vaccination against frameshift neoantigens conserved across multiple species and tumor histologies is a potential cancer preventative strategy currently being investigated. Companion dogs spontaneously develop cancers at a similar incidence to those in people and are a complementary comparative patient population for the development of novel anti-cancer therapeutics. In addition to an intact immune system with tumors that arise in an autochthonous tumor microenvironment, dogs also have a shorter lifespan and temporally compressed tumor natural history as compared to humans, which allows for more rapid evaluation of safety, immunogenicity, and efficacy of cancer vaccination strategies. Here we describe the study protocol for the Vaccination Against Canine Cancer Study (VACCS), the largest interventional cancer clinical trial conducted in companion dogs to date. In addition to safety and immunogenicity, the primary endpoint of VACCS is the cumulative incidence (CI) of dogs developing malignant neoplasia of any type at the end of the study period. Secondary endpoints include changes in incidence of specific tumor types, survival times following neoplasia diagnosis, and all-cause mortality.


Assuntos
Vacinas Anticâncer , Doenças do Cão , Neoplasias , Humanos , Cães , Animais , Vacinas Anticâncer/uso terapêutico , Vacinação/veterinária , Neoplasias/prevenção & controle , Neoplasias/veterinária , Microambiente Tumoral , Doenças do Cão/prevenção & controle
5.
J Genet Couns ; 2023 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-37864663

RESUMO

In the genomic era, the availability of gene panel and whole genome/exome sequencing is rapidly increasing. Opportunities for providing former patients with new genetic information are also increasing over time and recontacting former patients with new information is likely to become more common. Breast cancer Refined Analysis of Sequence Tests-Risk And Penetrance (BRA-STRAP) is an Australian study of individuals who had previously undertaken BRCA1 and BRCA2 genetic testing, with no pathogenic variants detected. Using a waiver of consent, stored DNA samples were retested using a breast/ovarian cancer gene panel and clinically significant results returned to the patient (or next of kin, if deceased). This qualitative study aimed to explore patient experiences, opinions, and expectations of recontacting in the Australian hereditary cancer setting. Participants were familial cancer clinic patients (or next of kin) who were notified of a new pathogenic variant identified via BRA-STRAP. In-depth, semi-structured interviews were conducted approximately 6 weeks post-result. Interviews were transcribed verbatim and analyzed using an inductive thematic approach. Thirty participants (all female; average age = 57; range 36-84) were interviewed. Twenty-five were probands, and five were next of kin. Most women reported initial shock upon being recontacted with unexpected news, after having obtained a sense of closure related to their initial genetic testing experiences and cancer diagnosis. For most, this initial distress was short-lived, followed by a process of readjustment, meaning-making and adaptation that was facilitated by perceived clinical and personal utility of the information. Women were overall satisfied with the waiver of consent approach and recontacting process. Results are in line with previous studies suggesting that patients have positive attitudes about recontacting. Women in this study valued new genetic information gained from retesting and were satisfied with the BRA-STRAP recontact model. Practice implications to facilitate readjustment and promote psychosocial adaptation were identified.

6.
BMJ Case Rep ; 16(9)2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37748815

RESUMO

A man in his early 50s was referred to the oral medicine clinic regarding a 6-month history of ulceration affecting the palate and gingivae. Intra-oral examination revealed multiple friable pustules on a background of erythema affecting the gingival sulci and 'snail-track' like ulceration affecting the palate. Histopathological analysis of the gingivae revealed features in keeping with a diagnosis of pyostomatitis vegetans (PV). Although he did not report any gastrointestinal symptoms, the patient was referred to gastroenterology and underwent colonoscopy and small bowel series examination. Colonic biopsies showed no features to suggest a diagnosis of inflammatory bowel disease (IBD). In 11 years since diagnosis of PV, the patient still shows no signs or symptoms suggestive of IBD. This case highlights a rare occurrence of PV without IBD, but emphasises the importance of appropriate referral to relevant medical specialities based on clinical and histopathological findings.


Assuntos
Doenças do Sistema Imunitário , Doenças Inflamatórias Intestinais , Masculino , Humanos , Gengiva , Biópsia
7.
Genet Med ; 25(8): 100876, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37149760

RESUMO

PURPOSE: This study aimed to develop an online educational program for using polygenic risk score (PRS) for breast and ovarian cancer risk assessments and to evaluate the impact on the attitudes, confidence, knowledge, and preparedness of genetic health care providers (GHPs). METHODS: The educational program comprises an online module that covers the theoretical aspects of PRS and a facilitated virtual workshop with prerecorded role-plays and case discussions. Data were collected in pre- and posteducation surveys. Eligible participants were GHPs working in Australian familial cancer clinics registered to recruit patients for a breast and ovarian cancer PRS clinical trial (n = 12). RESULTS: A total of 124 GHPs completed the PRS education, of whom 80 (64%) and 67 (41%) completed the pre- and posteducation surveys, respectively. Before education, GHPs reported limited experience, confidence, and preparedness using PRS, but they recognized its potential benefits. After education, GHPs indicated improved attitudes (P ≤ .001), confidence (P ≤ .001), knowledge (P ≤ .001), and preparedness (P ≤ .001) to use PRS. Most GHPs thought that the program entirely met their learning needs (73%) and was completely relevant to their clinical practice (88%). GHPs identified PRS implementation barriers, including limited funding models, diversity issues, and need for clinical guidelines. CONCLUSION: Our education program improved GHP attitudes, confidence, knowledge, and preparedness for using PRS/personalized risk and provides a framework for the development of future programs.


Assuntos
Aprendizagem , Neoplasias Ovarianas , Humanos , Feminino , Austrália , Fatores de Risco
8.
Br Dent J ; 234(3): 148-150, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36765219

RESUMO

Dental education has been delivered in Queen's University for just over 100 years, with the Dental School celebrating its centenary in 2020. During that time, the undergraduate curriculum has evolved greatly, through innovations in the delivery of teaching and assessment driven by changes in educational practice, developing technologies and, most recently, the COVID-19 pandemic. Throughout all of these changes, our focus remains on our students, their wellbeing, and their development as lifelong learners for a career in the dental profession.


Assuntos
COVID-19 , Educação de Graduação em Medicina , Humanos , Pandemias , Universidades , COVID-19/epidemiologia , Currículo , Odontologia , Ensino
9.
J Allergy Clin Immunol ; 150(3): 604-611, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35367470

RESUMO

BACKGROUND: The study of pathogenic mechanisms in adult asthma is often marred by a lack of precise information about the natural history of the disease. Children who have persistent wheezing (PW) during the first 6 years of life and whose symptoms start before age 3 years (PW+) are much more likely to have wheezing illnesses due to rhinovirus (RV) in infancy and to have asthma into adult life than are those who do not have PW (PW-). OBJECTIVE: Our aim was to determine whether nasal epithelial cells from PW+ asthmatic adults as compared with cells from PW- asthmatic adults show distinct biomechanistic processes activated by RV exposure. METHODS: Air-liquid interface cultures derived from nasal epithelial cells of 36-year old participants with active asthma with and without a history of PW in childhood (10 PW+ participants and 20 PW- participants) from the Tucson Children's Respiratory Study were challenged with a human RV-A strain (RV-A16) or control, and their RNA was sequenced. RESULTS: A total of 35 differentially expressed genes involved in extracellular remodeling and angiogenesis distinguished the PW+ group from the PW- group at baseline and after RV-A stimulation. Notably, 22 transcriptomic pathways showed PW-by-RV interactions; the pathways were invariably overactivated in PW+ patients, and were involved in Toll-like receptor- and cytokine-mediated responses, remodeling, and angiogenic processes. CONCLUSIONS: Asthmatic adults with a history of persistent wheeze in the first 6 years of life have specific biomolecular alterations in response to RV-A that are not present in patients without such a history. Targeting these mechanisms may slow the progression of asthma in these patients.


Assuntos
Asma , Infecções por Enterovirus , Infecções por Picornaviridae , Adulto , Asma/diagnóstico , Criança , Pré-Escolar , Células Epiteliais , Humanos , Fenótipo , Sons Respiratórios , Rhinovirus/genética
10.
Eur J Hum Genet ; 30(3): 363-366, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34602610

RESUMO

Researchers and research participants increasingly support returning clinically actionable genetic research findings to participants, but researchers may lack the skills and resources to do so. In response, a genetic counsellor-led program to facilitate the return of clinically actionable findings to research participants was developed to fill the identified gap in research practice and meet Australian research guidelines. A steering committee of experts reviewed relevant published literature and liaised with researchers, research participants and clinicians to determine the scope of the program, as well as the structure, protocols and infrastructure. A program called My Research Results (MyRR) was developed, staffed by genetic counsellors with input from the steering committee, infrastructure services and a genomic advisory committee. MyRR is available to Human Research Ethics Committee approved studies Australia-wide and comprises genetic counselling services to notify research participants of clinically actionable research findings, support for researchers with developing an ethical strategy for managing research findings and an online information platform. The results notification strategy is an evidence-based two-step model, which has been successfully used in other Australian studies. MyRR is a translational program supporting researchers and research participants to access clinically actionable research findings.


Assuntos
Comitês de Ética em Pesquisa , Genômica , Austrália , Aconselhamento Genético , Genoma , Genômica/métodos , Humanos
11.
Pediatr Qual Saf ; 7(5): e601, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-38584957

RESUMO

Introduction: Patient transfers pose a potential risk during hospitalizations. Structured communication practices are necessary to ensure effective handoffs, but occur amidst competing priorities and constraints. We sought to design and implement a multidisciplinary process to enhance communication between pediatric cardiovascular intensive care unit and cardiology floor teams with a comprehensive approach evaluating efficiency, safety, and culture. Methods: We conducted a prospective quality improvement study to enact a bed-availability triggered bedside handoff process. The primary aim was to reduce the time between handoff and unit transfer. Secondary metrics captured the impact on safety (reported safety events, overnight transfers, bounce backs, and I-PASS utilization), efficiency (transfer latency, unnecessary patient handoffs, and cumulative time providers were engaged in handoffs), and culture (team members perceptions of satisfaction, collaboration, and handoff efficiency via survey data). Results: Eighty-two preimplementation surveys, 26 stakeholder interviews, and 95 transfers were completed during the preintervention period. During the postintervention period, 145 handoffs were audited. We observed significant reductions in transfer latency, unnecessary handoffs, and cumulative provider handoff time. Overnight transfers decreased, and no negative impact was observed in reported safety events or bouncebacks. Survey results showed a positive impact on collaboration, efficiency, and satisfaction among team members. Conclusions: Developing safer handoff practices require a collaborative, structured, and stepwise approach. Advances are attainable in high-volume centers, and comprehensive measurement of change is necessary to ensure a positive impact on the overall patient and provider environment.

12.
NPJ Breast Cancer ; 7(1): 153, 2021 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-34887416

RESUMO

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make inference about breast cancer risk for women unselected for family history, an important consideration of population screening. We tested 1464 women diagnosed with breast cancer and 862 age-matched controls participating in the Australian Breast Cancer Family Study (ABCFS), and 6549 healthy, older Australian women enroled in the ASPirin in Reducing Events in the Elderly (ASPREE) study for rare germline variants using a 24-gene-panel. Odds ratios (ORs) were estimated using unconditional logistic regression adjusted for age and other potential confounders. We identified pathogenic variants in 11.1% of the ABCFS cases, 3.7% of the ABCFS controls and 2.2% of the ASPREE (control) participants. The estimated breast cancer OR [95% confidence interval] was 5.3 [2.1-16.2] for BRCA1, 4.0 [1.9-9.1] for BRCA2, 3.4 [1.4-8.4] for ATM and 4.3 [1.0-17.0] for PALB2. Our findings provide a population-based perspective to gene-panel testing for breast cancer predisposition and opportunities to improve predictors for identifying women who carry pathogenic variants in breast cancer predisposition genes.

13.
J Community Genet ; 12(4): 653-662, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34550561

RESUMO

As genomics becomes embedded into healthcare, public genomic health literacy is critical to support decision-making for personal and family health decisions and enable citizens to engage with related social issues. School science education has the potential to establish the foundations of genetic and genomic literacy. The concept of literacy extends beyond conceptual understanding of biological principles to familiarity with the applications and implications of genetics, critical thinking skills, and socioscientific reasoning. We developed and evaluated a suite of resources for teaching genetics and genomics in the Australian senior biology syllabus for students aged 16-18 years. The aim was to increase teachers' knowledge and confidence to teach genetic and genomic content, and their capacity to develop robust genetic literacy in their students. Resources, including an inquiry-based task and five associated lesson plans, were developed and made freely available to teachers online. Evaluation was undertaken between December 2019 and March 2020 with a post-use survey emailed to teachers who had accessed the resources. The 56 teachers who responded rated the resources as high quality, engaging, and well-aligned with the syllabus. Teachers who used the resources self-reported increases in their knowledge and confidence in teaching. They also perceived positive outcomes in their students, reporting that the resources deepened their students understanding of genetic concepts, helped them to consider social and ethical issues, and developed their higher order thinking skills. Findings may inform future interactions with high schools to improve genetic literacy.

14.
Int Forum Allergy Rhinol ; 11(12): 1647-1653, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34076350

RESUMO

BACKGROUND: Chronic rhinosinusitis (CRS) is a multifactorial disease with a high co-occurrence with asthma. In this multicohort study, we tested whether single nucleotide polymorphisms (SNPs) associated with childhood asthma and rhinovirus (RV)-associated disease are related to an increased susceptibility to adult CRS in a multicohort retrospective case-control study. METHODS: Participants at two tertiary academic rhinology centers, University of Arizona (UofA) and University of Pennsylvania (UPenn) were recruited. Cases were defined as those with physician diagnosed CRS (UofA, n = 149; UPenn, n = 250), and healthy controls were those without CRS (UofA, n = 66; UPenn, n = 275). Genomic DNA was screened for the GSDMB rs7216389 SNP and CDHR3 rs6967330 SNP. Gene dosage, or the number of combined risk alleles in a single subject was calculated. Meta-analysis of the association between GSDMB or CDHR3 genotypes and CRS was performed and additive gene dosage effect for each population calculated using p for trend. RESULTS: A meta-analysis revealed a combined increased risk for CRS in subjects with the GSDMB rs7216389 SNP (odds ratio [OR] 1.40; 95% confidence interval [CI], 1.16-1.76; p = 0.004). Both the UofA (OR 1.73; 95% CI, 1.23-2.43; p = 0.002) and UPenn (OR 1.27; 95% CI, 1.02-1.58; p = 0.035) populations showed a significant positive association between the number of combined risk alleles of GSDMB rs7216389 SNP and CDHR3 rs6967330 SNP and risk for CRS. CONCLUSION: Carriers of the GSDMB rs7216389 SNP and CDHR3 rs6967330 SNP are at increased susceptibility for CRS. These data suggest that therapeutic approaches to target aberrant responses to RV infection may play a role in the treatment of unified airway disease.


Assuntos
Predisposição Genética para Doença , Proteínas de Neoplasias/genética , Polimorfismo de Nucleotídeo Único , Sinusite/genética , Adulto , Proteínas Relacionadas a Caderinas , Caderinas/genética , Estudos de Casos e Controles , Criança , Doença Crônica , Genótipo , Humanos , Proteínas de Membrana/genética , Estudos Retrospectivos
15.
J Genet Couns ; 30(3): 849-860, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33470033

RESUMO

Polygenic risk scores (PRS) are personalized assessments of disease risk based on the cumulative effect of common low-risk genetic variants. PRS have been shown to accurately predict women's breast cancer risk and are likely to be incorporated into personalized breast cancer risk management programs. However, there are few studies investigating the individual impact of receiving a breast cancer PRS. Existing studies have not demonstrated significant changes in perceived risk or risk management behaviors after receipt of polygenic risk information. The aim of this qualitative study was to explore how women with a family history of breast cancer construct breast cancer risk perceptions after receipt of a breast cancer PRS. Unaffected women with a family history of breast cancer who had not previously received genetic counseling regarding their breast cancer risk were invited to participate in this study. In-depth, semi-structured interviews were conducted with 20 women who attended a familial cancer clinic in the Australian states of Victoria and Tasmania. Data were analyzed using an inductive thematic approach. Women's lived experience played a significant role in the construction and maintenance of their breast cancer risk perception. Women's pre-existing risk perceptions were informed by their family history and their knowledge that breast cancer is a multifactorial disease. Knowing that breast cancer is a multifactorial disease enabled most women to integrate genetic information with their pre-existing notions of risk. Women reported that the information they received was consistent with their existing notions of personal risk and screening advice. Therefore, the PRS did not lead to a change in perceived risk or risk management behaviors for most women. The results of this study provide insight into how polygenic risk information is integrated with pre-existing notions of risk, which will inform its implementation into clinical practice.


Assuntos
Neoplasias da Mama , Austrália , Neoplasias da Mama/genética , Feminino , Predisposição Genética para Doença , Humanos , Percepção , Fatores de Risco
16.
Cardiol Young ; 31(2): 248-251, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33143784

RESUMO

OBJECTIVES: Advanced practice providers (APPs) are being employed at increasing rates in order to meet new in-hospital care demands. Utilising the Paediatric Acute Care Cardiology Collaborative (PAC3) hospital survey, we evaluated variations in staffing models regarding first-line providers and assessed associations with programme volume, acuity of care, and post-operative length of stay (LOS). STUDY DESIGN: The PAC3 hospital survey defined staffing models and resource availability across member institutions. A resource acuity score was derived for each participating acute care cardiology unit. Surgical volume was obtained from The Society of Thoracic Surgeons database. Pearson's correlation coefficients were used to evaluate the relationship between staffing models and centre volume as well as unit acuity. A previously developed case-mix adjustment model for total post-operative LOS was utilised in a multinomial regression model to evaluate the association of APP patient coverage with observed-to-expected post-operative LOS. RESULTS: Surveys were completed by 31 (91%) PAC3 centres in 2017. Nearly all centres (94%) employ APPs, with a mean of 1.7 (range 0-5) APPs present on weekday rounds. The number of APPs present has a positive correlation with surgical volume (r = 0.49, p < 0.01) and increased acuity (r = 0.39, p = 0.03). In the multivariate model, as coverage by APPs increased from low to moderate or high, there was greater likelihood of having a shorter-than-expected post-operative LOS (p < 0.001). CONCLUSIONS: The incorporation of paediatric acute care cardiology APPs is associated with reduced post-operative LOS. Future studies are necessary to understand how APPs impact these patient-specific outcomes.


Assuntos
Cardiologia , Cirurgiões , Criança , Cuidados Críticos , Humanos , Tempo de Internação , Inquéritos e Questionários
17.
Prim Dent J ; 9(3): 45-53, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32940585

RESUMO

With the projected increase to 1.3 billion people aged 65 years or older by 2040, healthcare professionals are faced with significant challenges in managing this population of patients. In the oral cavity, oral mucosal disease is a significant problem found in older populations. Several facial pain conditions are more likely to be seen in this cohort of patients. Although management of this group of patients may not always be appropriate in general practice, an awareness of the range of oral medicine conditions that may be encountered in older patients is essential to allow prompt referral and treatment.


Assuntos
Doenças da Boca , Idoso , Dor Facial , Humanos
20.
Eur J Dent Educ ; 24(3): 442-448, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32104944

RESUMO

INTRODUCTION: The United Kingdom and Ireland teachers of Human Disease/Clinical Medical Science for Dentistry (HD/CMSD) group continue to work together and most recently collaborated to review current and future assessments. MATERIALS AND METHODS: The first part of the review of assessments in HD/CMSD took place at a face-to-face meeting with presentations from delegates on assessments in their home institutions. The second and larger part comprised an online survey where all eighteen schools in the UK and Ireland participated. RESULTS: All schools had some element of formative assessment, and the majority had a stand-alone summative assessment at the end of the HD/CMSD teaching block. Most schools had a written paper and practical elements to their assessments, most commonly a combination of a multiple-choice type question combined with an objective structured clinical examination (OSCE). There was a trend towards the use of single best answer (SBA) questions and a willingness amongst participants to share a question bank. All schools incorporated elements of HD/CMSD in their final examinations. DISCUSSION AND CONCLUSION: This collaboration promoted the sharing of developments in assessment for HD/CMSD and demonstrated a willingness to cooperate between institutions. Assessment in HD/CMSD in the UK and Ireland continues to be refined by those responsible for its content and delivery, and assessment methods are progressing following evidence-based best practice.


Assuntos
Medicina Clínica , Educação de Graduação em Medicina , Currículo , Odontologia , Educação em Odontologia , Humanos , Irlanda , Inquéritos e Questionários , Reino Unido
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