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1.
Med Educ ; 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605442

RESUMO

INTRODUCTION: Despite tenacious efforts of continuing professional development (CPD) developers and educators, physician engagement in CPD is fraught with challenges. Research suggests that these educational interventions and the maintenance of professional competence systems that mandate them are often seen as impractical, decontextualized and check-box activities by participants. This study explores physicians' learning post graduate medical education (GME) training across their CPD journey to understand how they (a) conceive of themselves as learners and (b) engage in lifelong learning across the course of their professional careers. METHODS: Using narrative inquiry and holistic narrative analysis situated within a social constructivist orientation, we carried out individual interviews with physicians from across a large children's hospital network including academic hospitals, community hospitals and primary care practices. Timelines and story arcs were used to support the narrative analysis's re-storying. RESULTS: Twelve physicians from six different sub-specialties were interviewed. We identified three noteworthy challenges as particularly salient across participants' re-storied narratives: (i) train-on-a-track to treading water, (ii) learning takes a backseat, and (iii) learning through foraging or hunting and gathering. Participants described significant change when transitioning from GME to CPD learning. While participants identified as learners, they described the disorienting impact of losing GME's formal supports and structures. They articulated that patient care trumped learning as their top priority. They lamented having limited insight into their learning needs (e.g. little feedback data) and so resorted to engaging in CPD activities that were readily at hand-but not necessarily relevant-and to finding learning resources that might not be formally recognised for CPD credit. CONCLUSIONS: Physicians' learning journeys post-GME are challenging, and the systems created to support that learning are ill equipped to meet the needs of physicians transitioning from GME to CPD. To encourage meaningful learning, the complex interplay of factors impeding CPD engagement should inform future innovations.

2.
BMC Med Educ ; 24(1): 734, 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38977978

RESUMO

BACKGROUND: Evaluations of continuing professional development programs typically focus on short-term knowledge and skill acquisition. There is a need for more comprehensive program evaluation methods that assess a broader range of impacts and can elicit how and why these outcomes occurred. We conducted a qualitative study to investigate the impacts of a multidisciplinary, online health professional postgraduate degree and to gain insights into the factors that led to these impacts. METHODS: Participants were graduates of the University of Melbourne's Master of Cancer Sciences who could participate in an online interview. Semi-structured, qualitative interviews were conducted exploring a broad range of impacts, including changes in professional practice and career trajectory since graduation, and how the degree influenced these impacts. Data were analysed inductively. RESULTS: Fifteen participants (female: 80%, 31-50 years old: 67%) from a range of professions were interviewed. A number of major themes were uncovered. Impacts on career trajectory included expanded career horizons (e.g. increased role diversity and complexity), and increased confidence in their professional identity. Impacts on professional practice included individual improvements in patient care and research, as well as changes in organisational practice. Factors identified as leading to these impacts were: (i) active, interactive and interprofessional learning; (ii) networking, informal mentoring, and role-modelling; and (iii) support at multiple levels. CONCLUSION: This study provides preliminary evidence of the positive impact of a Master of Cancer Sciences on graduate career trajectory and professional practice. In addition, the inductive methodology enabled identification of the curricular features (both planned and emergent) that influenced these impacts, facilitating potential transferability of learnings to other teaching programs.


Assuntos
Currículo , Pesquisa Qualitativa , Humanos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Avaliação de Programas e Projetos de Saúde , Educação de Pós-Graduação em Medicina , Entrevistas como Assunto
3.
Am J Hum Genet ; 107(6): 1129-1148, 2020 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-33186545

RESUMO

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here we describe six unrelated individuals with de novo missense variants affecting the ATPase domain of VPS4A, a critical enzyme regulating ESCRT function. Probands had structural brain abnormalities, severe neurodevelopmental delay, cataracts, growth impairment, and anemia. In cultured cells, overexpression of VPS4A mutants caused enlarged endosomal vacuoles resembling those induced by expression of known dominant-negative ATPase-defective forms of VPS4A. Proband-derived fibroblasts had enlarged endosomal structures with abnormal accumulation of the ESCRT protein IST1 on the limiting membrane. VPS4A function was also required for normal endosomal morphology and IST1 localization in iPSC-derived human neurons. Mutations affected other ESCRT-dependent cellular processes, including regulation of centrosome number, primary cilium morphology, nuclear membrane morphology, chromosome segregation, mitotic spindle formation, and cell cycle progression. We thus characterize a distinct multisystem disorder caused by mutations affecting VPS4A and demonstrate that its normal function is required for multiple human developmental and cellular processes.


Assuntos
ATPases Associadas a Diversas Atividades Celulares/genética , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/genética , ATPases Vacuolares Próton-Translocadoras/genética , Alelos , Animais , Encéfalo/anormalidades , Ciclo Celular , Centrossomo/metabolismo , Endossomos/metabolismo , Fibroblastos/metabolismo , Genômica , Células HEK293 , Células HeLa , Humanos , Camundongos , Neurônios/metabolismo , Domínios Proteicos , Transporte Proteico , Fuso Acromático/metabolismo
4.
BMC Nurs ; 22(1): 159, 2023 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-37165374

RESUMO

BACKGROUND: Nursing students enter nursing programs with idealistic perceptions of what it is to be a nurse. Upon graduation, many find these perceptions mismatched with the actual nurse's role. This can lead to discontentment in their chosen career. These issues highlight the importance of nursing students developing an understanding of the nurse's role during their undergraduate nursing education. One way to accomplish this is to assess perceptions and address them accordingly during the nursing program. Survey tools assessing perceptions of nursing exist but lack contemporary and multicultural foci. AIM: To develop a feasible, valid, and reliable survey tool to identify nursing students' perceptions of being a nurse. DESIGN/METHODS: In Phase 1, a literature review and Nominal Group Technique meetings were used to generate primary survey items. Phase 2 included a pre-pilot and online pilot testing of the Perceptions of being a Registered Nurse (PRN) survey tool with 797 nursing students across all year levels at three Australian Universities. RESULTS: The 34-item PRN survey tool uses a five-point Likert scale to measure nursing students' perceptions of nursing, including factors influencing a nurse's well-being, attributes and qualities of nurses, the role of the nurse, and nursing professionalism. The Item-Content validity index was high (> 0.78), and the inter-item correlation validity was identified by Pearson's product-moment coefficient of r = .712. Internal reliability was confirmed with a Cronbach's alpha = 0.83. Based upon the participation completion rate, the survey tool was deemed applicable and feasible. The majority of respondents believed that nurses have altruistic attributes; however, perceptions of nursing varied significantly when rating factors influencing the physical, emotional, and social well-being of a nurse. In later stages of training, respondents were more likely to agree that nursing is physically and emotionally demanding and that nurses experience social isolation due to shift work, finding it difficult to achieve a work-life balance. CONCLUSIONS: The PRN survey tool was found to be valid, reliable, and feasible. Future use and outcomes from PRN assessments may lead to changes to nursing curricula that enhance nursing students' perceptions of nursing.

5.
Med Educ ; 56(7): 764-773, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35388925

RESUMO

BACKGROUND: Without volunteer interviewers, many universities would not be able to run multiple mini interviews (MMIs) due to the prohibitive cost of paying interviewers. Despite the opportunity cost borne by volunteers, many interviewers participate in multiple MMI sessions per year and volunteer year after year. There is surprisingly little research into what motivates interviewers to volunteer as MMI interviewers. This research aims to explore both what motivates individuals to volunteer to interview in MMIs for undergraduate medical selection and what adds and detracts value from their participation. METHODS: We applied a qualitative sequential two-phase design consisting of open-ended survey questions, followed by semi-structured interviews to explore interviewers' motivators in more depth. The survey data on motivators and the six functions from the volunteer functions inventory (VFI) informed interview data collection and provided a lens through which to examine MMI interviewer motivations. Content analysis was used to analyse the survey data. Framework analysis was used to analyse the interview data. RESULTS: The survey was completed by 108 interviewers (50% response rate), and 19 semi-structured interviews were conducted (54% response rate). From the content analysis, the time commitment of involvement was the biggest detractor identified by participants. Through the framework analysis, five overarching motivators were developed: (i) acting on values, (ii) gaining understanding, (iii) gaining personal satisfaction and gratification, (iv) shaping the future workforce and (v) having social interaction. These mirrored five of the six functions proposed in the VFI. CONCLUSIONS: There are a range of motivating factors that influenced the participants' decision to volunteer as an interviewer for MMIs. Some motivations were for the benefit of others, some were self-serving, and some a combination of both. Universities should utilise these motivating factors to aid in targeted recruitment of volunteer interviewers.


Assuntos
Motivação , Critérios de Admissão Escolar , Humanos , Inquéritos e Questionários , Voluntários
6.
Med Educ ; 56(1): 127-136, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34463357

RESUMO

INTRODUCTION: In an effort to increase the rigour of evaluation in health professions education (HPE), a range of evaluation approaches are used. These largely focus on outcome evaluation as opposed to programme evaluation. We aim to review and critique the use of outcome evaluation models, using the Kirkpatrick Model as an example given its wide acceptance and use, and advocate for the use of programme evaluation models that help us understand how and why outcomes are occurring. METHODS: We systematically searched OVID medline, Scopus, CINAHL and Pubmed, and hand searched six leading HPE journals to provide an overview of the use of the Kirkpatrick Model as well as a range of programme evaluation models in HPE. In addition to this, we synthesised the existing critiques of the Kirkpatrick Model as an example of outcome evaluation, to highlight the limitations of such models. RESULTS: The use of the Kirkpatrick Model in HPE is widespread and increasing; however, studies focus on categorising outcomes, rather than explaining how and why they occur. The main criticisms of the model are as follows: it is outcomes focused and fails to consider factors that can impact training outcomes; it assumes positive casual linkages between the levels; there is an assumption that the higher-level outcomes are more important; and unintended impacts are not considered. The use of the Kirkpatrick Model by the MERSQI, BEME and WHO contribute to the myth that the Kirkpatrick Model is the gold standard for programme evaluation. DISCUSSION: Moving forward, evaluations of HPE interventions must shift from focusing largely on measuring outcomes of interventions with little consideration for how and why these outcomes are occurring to programme evaluation that investigates what contributes to these outcomes. Other models that facilitate the evaluation of the complex processes that occur in HPE should be used instead of Kirkpatrick's.


Assuntos
Ocupações em Saúde , Avaliação de Resultados em Cuidados de Saúde , Humanos , Avaliação de Programas e Projetos de Saúde
7.
Proc Biol Sci ; 288(1944): 20202689, 2021 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-33563124

RESUMO

Predators frequently must detect and localize their prey in challenging environments. Noisy environments have been prevalent across the evolutionary history of predator-prey relationships, but now with increasing anthropogenic activities noise is becoming a more prominent feature of many landscapes. Here, we use the gleaning pallid bat, Antrozous pallidus, to investigate the mechanism by which noise disrupts hunting behaviour. Noise can primarily function to mask-obscure by spectrally overlapping a cue of interest, or distract-occupy an animal's attentional or other cognitive resources. Using band-limited white noise treatments that either overlapped the frequencies of a prey cue or did not overlap this cue, we find evidence that distraction is a primary driver of reduced hunting efficacy in an acoustically mediated predator. Under exposure to both noise types successful prey localization declined by half, search time nearly tripled, and bats used 25% more sonar pulses than when hunting in ambient conditions. Overall, the pallid bat does not seem capable of compensating for environmental noise. These findings have implications for mitigation strategies, specifically the importance of reducing sources of noise on the landscape rather than attempting to reduce the bandwidth of anthropogenic noise.


Assuntos
Quirópteros , Ecolocação , Animais , Ruído , Comportamento Predatório
8.
Med Teach ; 43(6): 677-685, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33635733

RESUMO

INTRODUCTION: Evaluating continuing professional development (CPD) programs is essential to demonstrate their value to participants and their institutions, and to inform the improvement and quality of CPD programs. Existing surveys measure a narrow range of impacts. This study developed a survey that can measure a broad range of impacts of CPD programs, not just those that are easily measured such as knowledge, skills, attitudes and confidence. METHOD: The development of the CPD Impacts Survey (CPDIS) was informed by best practice guidelines. A systematic scoping review, qualitative interviews, and existing survey instruments were used to develop the initial survey items. Past participants from two international health professions education institutes completed the survey (n = 292). Principal component analysis (PCA) was used to refine the survey. RESULTS: The PCA provided a three-component solution. Component 1 (learnings and self-efficacy), Component 2 (networking and building community), and Component 3 (achievement and validation) comprising 47, 14, and 13 items, respectively. The three components had high internal consistency (α = .98, α = .95, α = .92, respectively). CONCLUSION: The CPDIS is the first survey to assess a broader range of impacts of CPD programs. Given the substantial financial and opportunity costs of participation in CPD, the CPDIS will allow more efficient and accurate evaluation of the utility and value of CPD programs.


Assuntos
Atitude , Aprendizagem , Humanos , Inquéritos e Questionários
9.
Am J Hum Genet ; 100(1): 75-90, 2017 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-28041643

RESUMO

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.


Assuntos
Análise Mutacional de DNA , Variação Genética/genética , Genoma Humano/genética , Doenças Retinianas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Alelos , Sequência de Bases , Coroideremia/genética , Etnicidade/genética , Exoma/genética , Feminino , Genes Recessivos/genética , Humanos , Íntrons/genética , Masculino , Mutação , Doenças Raras/genética
10.
Eur J Pediatr ; 179(10): 1603-1607, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32367329

RESUMO

The aim of this study is to evaluate current anaesthetic practice for retinopathy of prematurity (ROP) interventions in the UK. We collected the data from the 12-month prospective British Ophthalmic Surveillance Unit study carried out in 2013/2014 that were analysed with regard to type of anaesthesia used for primary ROP procedures and the hospital department in which treatment took place. A total of 327 cases of treated ROP from 55 different UK units were reported in the study. Type of anaesthesia used during treatment was available for 324 (99.1%) cases and the treatment location in 316 (96.6%). Overall, 266 (89.3%) laser treatments and 13 (50.0%) of primary intravitreal injections were performed with the neonate intubated, using intravenous sedation (IVS) in 158 (59.4%) and the remainder, under general anaesthesia (GA). Two hundred thirteen (67.4%) of all ROP procedures took place in the neonatal unit. GA was used in 98 (95.1%) of theatre cases compared with 19 (8.9%) of cases treated in the neonatal unit. Three (0.9%) neonates suffered significant respiratory distress during or immediately after laser treatment.Conclusion: This survey suggests that the preference in UK units is to undertake ROP laser treatment in the neonatal unit with the neonate intubated and sedated intravenously. Those babies treated in the operating theatre are more likely to receive GA. In the surveyed year, half of the neonates receiving intravitreal injections as sole primary therapy was intubated; the reason for this could not be elucidated from the responses. Adverse respiratory reactions during or after laser treatment affected fewer than 1% of the neonates in this study. What is Known: • Prior to the introduction of intravitreal anti-VEGF, almost all ROP treatments in the UK were performed under general anaesthetic (GA). • The technique of intravitreal injection is described using topical anaesthesia and was thought to be changing anaesthesia preferences for ROP treatment. What is New: • Half of the neonates receiving primary anti-VEGF injection in the UK were treated under intravenous sedation or GA. • The increasing use of primary anti-VEGF treatment has not influenced trends in anaesthetic practice in the UK since the last review 10 years ago.


Assuntos
Anestésicos , Retinopatia da Prematuridade , Anestesia Local , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Estudos Prospectivos , Retinopatia da Prematuridade/epidemiologia , Retinopatia da Prematuridade/terapia , Reino Unido/epidemiologia
11.
Med Educ ; 54(7): 643-651, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32119155

RESUMO

CONTEXT: The design of selection methods must balance, amongst a range of factors, the desire to select the best possible future doctors with the reality of our resource-constrained environment. Examining the cost of selection processes enables us to identify areas in which efficiencies may be gained. METHODS: A cost description study was conducted based on selection for 2018 entry into medical school directly from secondary school. The perspectives of applicants, volunteer interviewers and the admitting institution were considered. Costs were modelled based on the Monash University (Australia) selection process, which uses a combination of secondary school matriculation score, aptitude test score (Undergraduate Medicine and Health Sciences Admission Test) and multiple mini-interview score. A variety of data sources were utilised, including bespoke surveys, audit data and existing literature. All costs are expressed in 2018 Australian dollars (AU$). Applicant behaviours in preparing for selection tests were also evaluated. RESULTS: A total of 381 of 383 applicants returned the survey. Over 70% of applicants had utilised commercial preparation materials. The median total cost to applicants was AU$2586 (interquartile range [IQR] AU$1574-3999), including costs to both prepare for and attend selection tests. Of 217 volunteer interviewers, 108 returned the survey. These were primarily health professional clinicians at a mid-career stage. The median total cost to interviewers was AU$452 (IQR AU$252-715) for participation in a half-day interview session, largely due to the loss of income. The cost to the admitting institution was AU$269 per applicant, accounted for by the costs of equipment and consumables (52%), personnel (34%) and facilities (14%). CONCLUSIONS: The costs of student selection for medical school are substantial. Understanding costs facilitates achievement of the objective of selecting the desired future medical workforce within the constraints of the resources available. Opportunities for change may arise from changes in applicant preparation behaviours, opportunities for economies of scale, and efficiencies driven by technological solutions.


Assuntos
Estudantes de Medicina , Testes de Aptidão , Austrália , Humanos , Critérios de Admissão Escolar , Faculdades de Medicina
12.
Med Teach ; 42(10): 1140-1147, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32706608

RESUMO

BACKGROUND: Continuing professional development (CPD) is essential for life-long learning of health professionals, yet evaluations of CPD focus on a narrow range of impacts. This study explored the range of impacts that are possible from attending CPD programs that foster social learning, and applied Wenger's social theory of learning to explain why these impacts occur. METHODS: Twenty semi-structured in-depth interviews were conducted with a purposive sample of past participants from two immersive CPD institutes. Inductive thematic analysis was used to analyse the data. RESULTS: Five themes were identified; (i) growing and utilising a network of like-minded individuals, (ii) forming stronger identities, (iii) applying learnings to practice, (iv) obtaining achievements and recognition, and (v) going beyond the scholar. Participants described experiencing both immediate and sustained impacts as a result of attending the courses. Concepts from Wenger's social learning theory including peripheral membership, reification and multimembership helped to explain why these impacts occur. CONCLUSIONS: The results suggest that a range of sustained impacts are possible as a result of attending CPD programs, but ongoing social learning is crucial to achieving these impacts. The social process of learning should be considered in the design of future CPD.


Assuntos
Educação Continuada , Pessoal de Saúde , Pessoal de Saúde/educação , Humanos , Aprendizagem , Teoria Social , Desenvolvimento de Pessoal
13.
Med Educ ; 53(11): 1087-1099, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31396999

RESUMO

CONTEXT: A number of systematic reviews have evaluated the impacts of continuing professional development (CPD). These reviews, due to their focused nature, may fail to capture the full range of impacts of CPD. This scoping review aims to explore the broader impacts of CPD with the intention of developing a categorisation of the types of impact of CPD. METHODS: The authors searched MEDLINE, CINAHL and ERIC databases for studies published between 2007 and 2017 that looked at the impacts of formal CPD programmes for all health professionals. Studies were independently screened for eligibility; one reviewer charted data for all included studies, a sample of 10% was reviewed by a second reviewer. The charted data were analysed using both qualitative and quantitative content analysis. RESULTS: The search returned 2750 manuscripts; 192 manuscripts describing 191 studies were included in this review. Most articles were from the USA (78 studies, 41%) and included medical doctors in the population (105 studies, 55%). Twelve categories of impact were generated through conventional content analysis: knowledge, practice change, skill, confidence, attitudes, career development, networking, user outcomes, intention to change, organisational change, personal change and scholarly accomplishments. Knowledge was most commonly measured (103 studies, 54%), whereas measurement of scholarly accomplishments was the least common (10 studies, 5%). CONCLUSIONS: Existing evidence takes a narrow view when assessing the impacts of CPD. Emphasis on measuring impacts as knowledge, behaviour, confidence, skills and attitudes may be due to the widely accepted four levels of evaluation from the Kirkpatrick Model or because the majority of studies used quantitative methods. The categories proposed in this review may be used to capture a broader view of the impacts of CPD programmes, contributing to the evidence base for their value and translating into CPD programmes that truly transform health professionals, their careers and their practice.


Assuntos
Educação Continuada/organização & administração , Pessoal de Saúde/educação , Pessoal de Saúde/psicologia , Mobilidade Ocupacional , Competência Clínica , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Autoimagem
14.
Ann Surg ; 268(6): 1113-1118, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-28498233

RESUMO

OBJECTIVE: To evaluate the effect of using wearable activity monitors (WAMs) in patients with intermittent claudication (IC) within a single-center randomized controlled trial. BACKGROUND: WAMs allow users to set daily activity targets and monitor their progress. They may offer an alternative treatment to supervised exercise programs (SEPs) for patients with IC. METHODS: Thirty-seven patients with IC were recruited and randomized into intervention or control group. The intervention consisted of a feedback-enabled, wrist-worn activity monitor (WAM) in addition to access to SEP. The control group was given access to SEP only. The outcome measures were maximum walking distance (MWD), claudication distance (CD), and quality of life as measured by the VascuQol questionnaire. Participants were assessed upon recruitment, and at 3, 6, and 12 months. RESULTS: Patients in the WAM group showed significant improvement in MWD at 3 and 6 months (80-112 m, to 178 m; P < 0.001), which was sustained at 12 months. The WAM group also increased CD (40 vs 110 m; P < 0.001) and VascuQol score (4.7 vs 5.8; P = 0.004). The control group saw a temporary increase in VascuQol score at 6 months (4.5 vs 4.7; P = 0.028), but no other improvements in MWD or CD were observed. Significantly higher improvements in MWD were seen in the WAM group compared with that in the control group at 6 months (82 vs -5 m; P = 0.009, r = 0.47) and 12 months (69 vs 7.5 m; P = 0.011, r = 0.52). CONCLUSIONS: The study demonstrates the significant, sustained benefit of WAM-led technologies for patients with IC. This potentially resource-sparing intervention is likely to provide a valuable adjunct or alternative to SEP.


Assuntos
Terapia por Exercício/métodos , Claudicação Intermitente/fisiopatologia , Claudicação Intermitente/terapia , Dispositivos Eletrônicos Vestíveis , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Qualidade de Vida , Inquéritos e Questionários , Resultado do Tratamento
15.
BMC Med Genet ; 16: 38, 2015 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-26068435

RESUMO

BACKGROUND: Distal Renal Tubular Acidosis is a disorder of acid-base regulation caused by functional failure of α-intercalated cells in the distal nephron. The recessive form of the disease (which is usually associated with sensorineural deafness) is attributable to mutations in ATP6V1B1 or ATP6V0A4, which encode the tissue-restricted B1 and a4 subunits of the renal apical H(+)-ATPase. ATP6V1B1 lies adjacent to the gene encoding the homeobox domain protein VAX2, at 2p13.3. To date, no human phenotype has been associated with VAX2 mutations. CASE PRESENTATION: The male Caucasian proband, born of a first cousin marriage, presented at 2 months with failure to thrive, vomiting and poor urine output. No anatomical problems were identified, but investigation revealed hyperchloremic metabolic acidosis with inappropriately alkaline urine and bilateral nephrocalcinosis. Distal Renal Tubular Acidosis was diagnosed and audiometry confirmed hearing loss at 2 years. ATP6V0A4 was excluded from genetic causation by intragenic SNP linkage analysis, but ATP6V1B1 completely failed to PCR-amplify in the patient, suggesting a genomic deletion. Successful amplification of DNA flanking ATP6V1B1 facilitated systematic chromosome walking to ascertain that the proband harbored a homozygous deletion at 2p13.3 encompassing all of ATP6V1B1 and part of VAX2; gene dosage was halved in the parents. This results in the complete deletion of ATP6V1B1 and disruption of the VAX2 open reading frame. Later ocular examinations revealed bilateral rod / cone photoreceptor dystrophy and mild optic atrophy. Similar changes were not detected in an adult harbouring a disruptive mutation in ATP6V1B1. CONCLUSIONS: The genomic deletion reported here is firstly, the only reported example of a whole gene deletion to underlie Distal Renal Tubular Acidosis, where the clinical phenotype is indistinguishable from that of other patients with ATP6V1B1 mutations; secondly, this is the first reported example of a human VAX2 mutation and associated ocular phenotype, supporting speculation in the literature that VAX2 is important for correct retinal functioning.


Assuntos
Acidose Tubular Renal/genética , Acidose Tubular Renal/fisiopatologia , Cromossomos Humanos Par 2/genética , Genoma Humano/genética , Proteínas de Homeodomínio/metabolismo , Retina/fisiopatologia , Deleção de Sequência , Adulto , Sequência de Bases , Pré-Escolar , Humanos , Lactente , Masculino , Fenótipo
17.
Dev Med Child Neurol ; 56(8): 749-55, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24854011

RESUMO

AIM: Idiopathic intracranial hypertension (IIH) is prone to misdiagnosis. Our aim was to identify the reasons for this in children in our region referred for suspected IIH. METHOD: We reviewed the records of all children referred with symptoms and/or signs consistent with raised intracranial pressure (ICP) and normal magnetic resonance imaging of the brain to our tertiary neurology unit over 4 years. IIH was confirmed after expert ophthalmology including ultrasound/tomography and advanced cerebrospinal fluid (CSF) pressure studies. RESULTS: Of 15 children (six males, nine females; median age 12y, range 3-15y), six (five females, one male) were confirmed to have IIH. All weighed above the 91st centile and were over 10 years old. Four of the six had raised ICP secondary to other causes. Four had been misdiagnosed locally with papilloedema, three had drusen, and one had 'crowded discs'. Two had raised CSF pressures on standard lumbar puncture, but 20-minute steady state and infusion studies were normal, with symptoms settling after therapy was withdrawn. INTERPRETATION: Misdiagnosis of IIH was frequent, but could be reduced by (1) expert ophthalmological fundoscopy, orbital ultrasound, and optical coherence tomography; (2) expert neuroradiology; and (3) assessment of steady state CSF pressure rather than standard opening pressure in centimetres of water.


Assuntos
Erros de Diagnóstico , Hipertensão Intracraniana/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão Intracraniana/líquido cefalorraquidiano , Hipertensão Intracraniana/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Radiografia , Estudos Retrospectivos , Ultrassonografia
18.
Aust J Prim Health ; 20(1): 79-84, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23253868

RESUMO

Social Café Meals Programs aim to reduce food insecurity and social exclusion by providing participants access to subsidised meals in mainstream local cafés. This study aimed to explore the program's ability to address social exclusion and food insecurity and the impact of the program on the community. A qualitative evaluation approach was utilised whereby in-depth interviews were conducted with café owners, café staff and current program members of two Social Café Meals Programs operating in the south-eastern suburbs of Melbourne. Twelve program members and six café staff completed an in-depth interview at the local cafés. Data were analysed using a thematic analysis approach focusing on the lived experience of the café owners, staff and program members. Four key themes were identified. The program (i) improved food access for vulnerable groups and (ii) created community cohesiveness. (iii) The café environment was important in facilitating program use by community members. (iv) Café owners felt rewarded for their community contribution via the program. Social Café Meals Programs may provide a solution to improving food security and reducing social exclusion and may be considered as a strategy for improving nutrition and social health for at-risk and vulnerable groups.


Assuntos
Abastecimento de Alimentos/métodos , Relações Interpessoais , Avaliação de Programas e Projetos de Saúde/métodos , Restaurantes , Apoio Social , Austrália , Feminino , Humanos , Entrevistas como Assunto , Masculino , Características de Residência , Isolamento Social
19.
JMIR Form Res ; 8: e51770, 2024 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-38271088

RESUMO

BACKGROUND: Approximately 80% of primary school children in the United States and Europe experience glue ear, which may impair hearing at a critical time for speech acquisition and social development. A web-based app, DigiBel, has been developed primarily to identify individuals with conductive hearing impairment who may benefit from the temporary use of bone-conduction assistive technology in the community. OBJECTIVE: This preliminary study aims to determine the screening accuracy and usability of DigiBel self-assessed air-conduction (AC) pure tone audiometry in adult volunteers with simulated hearing impairment prior to formal clinical validation. METHODS: Healthy adults, each with 1 ear plugged, underwent automated AC pure tone audiometry (reference test) and DigiBel audiometry in quiet community settings. Threshold measurements were compared across 6 tone frequencies and DigiBel test-retest reliability was calculated. The accuracy of DigiBel for detecting more than 20 dB of hearing impairment was assessed. A total of 30 adults (30 unplugged ears and 30 plugged ears) completed both audiometry tests. RESULTS: DigiBel had 100% sensitivity (95% CI 87.23-100) and 72.73% (95% CI 54.48-86.70) specificity in detecting hearing impairment. Threshold mean bias was insignificant except at 4000 and 8000 Hz where a small but significant overestimation of threshold measurement was identified. All 24 participants completing feedback rated the DigiBel test as good or excellent and 21 (88%) participants agreed or strongly agreed that they would be able to do the test at home without help. CONCLUSIONS: This study supports the potential use of DigiBel as a screening tool for hearing impairment. The findings will be used to improve the software further prior to undertaking a formal clinical trial of AC and bone-conduction audiometry in individuals with suspected conductive hearing impairment.

20.
Strabismus ; 31(1): 66-72, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36866799

RESUMO

Evidence about the effect of smartphone use on accommodation is limited and inconclusive. Several studies have investigated either symptoms or near triad measures following smartphone use. These suggest that, certainly for the short term, smartphones have a negative impact on the near triad and produce symptoms. In addition, there is a body of recent work reporting cases of acute acquired concomitant esotropia (AACE) that may be caused by the accommodation-vergence demand of excessive smartphone use. A pilot study was undertaken to investigate accommodative measures before and after 30 minutes of smartphone use. Participants aged 16-40 years were invited to participate. Accommodative facility (AF), near point of accommodation (NPA), and near point of convergence (NPC) before and after 30 minutes of habitual smartphone use were assessed. NPA and AF were assessed with both eyes open (BEO), right eye (RE) and left eye (LE). Accommodative facility was assessed using ±2DS flipper lenses and measured in cycles per minute (cpm). NPA and NPC were assessed using the RAF rule and measured in centimeters. Data were analyzed in StatsDirect using non-parametric statistical tests. Eighteen participants were recruited, with a mean age of 24 years (SD: 7.6yrs). AF improved by 3cpm (p= .015) for BEO, 2.25cpm for RE (p = .004) and 1.5 cpm for the LE (p =. 278) after smartphone use. NPA with BEO became worse by 2 cm (p =.0474), with the RE worse by 0.5cms (p = .0474) and the LE, worse by 0.125 cms (p = .047). Convergence worsened by 0.75 cms (p = .018). Although these appeared to represent a change in measures following smartphone use, post-hoc analysis with Bonferroni correction demonstrated that these were not statistically significant at the 0.07 significance level. This pilot study found that there was no difference in accommodative and convergence measures before and after 30 minutes of smartphone use. These results suggest evidence contrary to the existing literature. There are several limitations to this pilot study and previous work, which are discussed. Suggestions on future work to explore the effect of smartphone use on the near triad to address limitations and further knowledge, in this area, are provided.


Assuntos
Esotropia , Smartphone , Humanos , Adulto Jovem , Adulto , Acuidade Visual , Projetos Piloto , Visão Binocular , Acomodação Ocular
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