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1.
CMAJ ; 195(30): E1016-E1017, 2023 08 08.
Artigo em Francês | MEDLINE | ID: mdl-37553147
2.
PLoS One ; 18(7): e0288107, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37437041

RESUMO

OBJECTIVES: Teachers are an important occupational group to consider when addressing vaccine confidence and uptake for school-aged children due to their proximate role within school-based immunization programs. The objectives of this study were to characterize and identify sociodemographic factors associated with vaccine confidence and describe teachers' knowledge of and perceived role in the school-based immunization program, with the aim of informing public health policy and identifying opportunities for supporting teachers in their role in school-based immunization programs. METHODS: A cross-sectional survey of elementary and secondary public-school teachers in British Columbia was completed from August to November 2020. Respondents provided sociodemographic information, as well as past vaccination experience, vaccine knowledge, and perceived role in the school-based immunization program. Vaccine confidence was measured using the Vaccine Hesitancy Scale (VHS). Characteristics associated with the VHS sub-scales 'lack of confidence in vaccines' and 'perceived risk of vaccines', were explored using ANOVA. Descriptive analysis was completed for teachers' perceived role in the immunization program. RESULTS: 5,095 surveys were included in this analysis. Overall vaccine confidence was high, with vaccine hesitancy being related to the perceived risk of vaccines rather than a lack of confidence in the effectiveness of vaccines. ANOVA found significant differences for both VHS-sub-scales based on sociodemographic factors, however, the strength of the association was generally small. High general vaccine knowledge and never having delayed or refused a vaccine in the past were associated with higher vaccine confidence. Overall, teachers reported a lack of clarity in their role within the school-based immunization program. CONCLUSIONS: This large population-based observational study of teachers highlights a number of key engagement opportunities between public health and the education sector. Using a validated scale, we found that overall, teachers are highly accepting of vaccines, and well situated as potential partners with public health to address vaccine hesitancy.


Assuntos
Pessoal de Educação , Vacinas , Criança , Humanos , Colúmbia Britânica , Estudos Transversais , Coleta de Dados
4.
Sex Transm Dis ; 50(2): 86-91, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36367543

RESUMO

Whether treatment, engagement in partner notification (PN), and PN outcomes differ between clients of Internet-based and clinic-based testing services is poorly understood. We compared these outcomes between people diagnosed with chlamydia and/or gonorrhea (CT/GC) through a sexually transmitted infection (STI) clinic service and GetCheckedOnline (GCO), an Internet-based testing service in British Columbia. We conducted a retrospective matched cohort study among CT/GC cases where each case diagnosed through GCO in 2016 to 2017 was matched to 2 STI clinic cases by diagnosis, sex, age group, and specimen collection date. Data were collected through chart review, with outcomes compared using appropriate statistical tests. Of 257 GCO and 514 matched clinic cases, case treatment was high and did not differ between GCO (254 of 257 [98.9%]) and clinic (513 of 514 [99.8%]) cases, as was engagement in PN (250 of 257 [97.2%] vs. 496 of 514 [96.5%]). There was no difference in the proportion of notified partners between GCO (159 of 270 [58.9%]) and clinic (253 of 435 [58.2%]) cases, although a greater proportion of partners reported by clinic cases were notified by STI nurses (43 of 435 [9.9%]) versus GCO cases (6 of 270 [2.2%]). GetCheckedOnline clients diagnosed with CT/GC demonstrated similar treatment uptake and engagement in PN to clinic clients, and PN outcomes did not differ. The greater reliance on STI clinic nurses for PN among clinic clients may be related to having had an initial in-person testing visit.


Assuntos
Infecções por Chlamydia , Chlamydia , Gonorreia , Infecções Sexualmente Transmissíveis , Humanos , Gonorreia/diagnóstico , Gonorreia/epidemiologia , Colúmbia Britânica/epidemiologia , Busca de Comunicante , Infecções Sexualmente Transmissíveis/epidemiologia , Parceiros Sexuais , Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/epidemiologia
5.
Vaccine X ; 8: 100106, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34222854

RESUMO

BACKGROUND: To control the COVID-19 pandemic high vaccine acceptability and uptake will be needed. Teachers represent a priority population to minimize social disruption and ensure continuity in education, which is vital for the well-being and healthy development of youth during the pandemic. The objective of this analysis was to measure public school teachers' intentions to receive a COVID-19 vaccine in British Columbia (BC), Canada. METHODS: A population-wide cross-sectional online survey from August to November 2020 asked all BC public school teachers with an available email address how likely they were to receive a COVID-19 vaccine. Two multivariable logistic regression models explored separately sociodemographic and vaccine hesitancy predictors for intention to receive a COVID-19 vaccine. RESULTS: A total of 5,076 teachers participated. The majority, 89.7%, reported they were likely or very likely to accept a COVID-19 vaccine. In multivariable regression, sociodemographic predictors of intention to be vaccinated included being male, having an educational background in science or engineering, and using reliable information sources on vaccination such as public health and health care providers. Teachers who reported lower levels of vaccine hesitancy, higher general vaccine knowledge, and belief that COVID-19 was a serious illness were more likely to intend to receive a COVID-19 vaccine. CONCLUSION: A high proportion of public-school teachers in BC intend to receive a COVID-19 vaccine. Continued monitoring of vaccine intentions will be important to inform public health vaccine implementation.

6.
Can Commun Dis Rep ; 47(1): 5-10, 2021 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-33746615

RESUMO

BACKGROUND: During the coronavirus disease 2019 (COVID-19) pandemic, temporary foreign workers (TFWs) provided a critical role to maintaining the food supply in Canada, yet workers faced a number of challenges that made them particularly vulnerable to COVID-19. The objective of this study was to describe the epidemiological investigation and public health response to a COVID-19 outbreak among TFWs in an agricultural setting in British Columbia from March to May 2020. METHODS: An outbreak was declared on March 28, 2020 following detection of two cases of COVID-19 among a group of 63 TFWs employed by a nursery and garden centre. Outbreak control measures included immediate isolation of cases, case finding via outreach screening and testing, cohorting of asymptomatic workers and enhanced cleaning and disinfection. The outbreak was declared over on May 10, 2020. RESULTS: A total of 26 COVID-19 cases were identified among the group of TFWs; no cases were identified among local workers. Cases were primarily male (77%) with a median age of 41 years. Symptom onsets ranged from March 8 to April 9, 2020. One case required overnight hospitalization for pneumonia. CONCLUSION: This was the first COVID-19 community outbreak identified in British Columbia and the first COVID-19 outbreak identified among TFWs in Canada. This outbreak began prior to implementation of provincial and federal quarantine orders for international travellers. A provincial policy was later developed that requires TFWs to quarantine in government-funded accommodation prior to deployment to agricultural settings.

7.
Drug Alcohol Depend ; 205: 107589, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31605958

RESUMO

OBJECTIVES: Drug checking is a harm reduction intervention that allows for identification of drug composition. The objective of the study was to assess drug market components and concordance between expected substance reported by clients and results from point-of-care drug checking at music festivals and events in British Columbia. METHODS: From July to September 2018, we provided drug checking services at four events using combination Fourier Transform Infrared (FTIR) spectroscopy and fentanyl immunoassay strips. We measured concordance between expected substance as reported by clients to the results from the FTIR/fentanyl immunoassay strip and tracked unexpected adulterants. RESULTS: In total, 336 checks were completed. Most samples were expected by clients to be psychedelics (69.3%) or stimulants (19.6%). Of the 233 psychedelic samples, 169 (72.5%) contained the expected, unadulterated substance, and 27 (11.6%) contained additional contaminants. Of 66 stimulant samples, 41 (62.1%) contained expected substance, while 24 (36.4%) contained additional contaminants. Unexpected adulterants such as fentanyl, levamisole, and phenacetin were also found, in addition to several novel psychoactive substances. DISCUSSION: We found a large proportion of substances that contained unexpected adulterants. Our findings highlight the value of continued drug checking and will be helpful in designing future harm reduction interventions in similar contexts.


Assuntos
Contaminação de Medicamentos/estatística & dados numéricos , Drogas Ilícitas/análise , Imunoensaio/estatística & dados numéricos , Espectroscopia de Infravermelho com Transformada de Fourier/estatística & dados numéricos , Detecção do Abuso de Substâncias/estatística & dados numéricos , Colúmbia Britânica/epidemiologia , Estimulantes do Sistema Nervoso Central/análise , Fentanila/análise , Alucinógenos/análise , Redução do Dano , Férias e Feriados , Humanos , Imunoensaio/métodos , Levamisol/análise , Música , Fenacetina/análise , Reprodutibilidade dos Testes , Detecção do Abuso de Substâncias/métodos
8.
Harm Reduct J ; 16(1): 4, 2019 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-30634986

RESUMO

BACKGROUND: In 2016, a public health emergency was declared in British Columbia due to an unprecedented number of illicit drug overdose deaths. Injection drug use was implicated in approximately one third of overdose deaths. An innovative delivery model using mobile supervised consumption services (SCS) was piloted in a rural health authority in BC with the goals of preventing overdose deaths, reducing public drug use, and connecting clients to health services. METHODS: Two mobile SCS created from retrofitted recreational vehicles were used to serve the populations of two mid-sized cities: Kelowna and Kamloops. Service utilization was tracked, and surveys and interviews were completed to capture clients', service providers', and community stakeholders' attitudes towards the mobile SCS. RESULTS: Over 90% of surveyed clients reported positive experiences in terms of access to services and physical safety of the mobile SCS. However, hours of operation met the needs of less than half of clients. Service providers were generally dissatisfied with the size of the space on the mobile SCS, noting constraints in the ability to respond to overdose events and meaningfully engage with clients in private conversations. Additional challenges included frequent operational interruptions as well as poor temperature control inside the mobile units. Winter weather conditions resulted in cancelled shifts and disrupted services. Among community members, there was variable support of the mobile SCS. CONCLUSIONS: Overall, the mobile SCS were a viable alternative to a permanent site but presented many challenges that undermined the continuity and quality of the service. A mobile site may be best suited to temporarily provide services while bridging towards a permanent location. A needs assessment should guide the stop locations, hours of operation, and scope of services provided. Finally, the importance of community engagement for successful implementation should not be overlooked.


Assuntos
Overdose de Drogas/terapia , Drogas Ilícitas/intoxicação , Unidades Móveis de Saúde/organização & administração , Serviços de Saúde Rural/organização & administração , Adulto , Colúmbia Britânica , Atenção à Saúde/organização & administração , Overdose de Drogas/prevenção & controle , Feminino , Redução do Dano , Humanos , Masculino , Programas de Troca de Agulhas , Transtornos Relacionados ao Uso de Opioides/prevenção & controle , População Rural , Tempo (Meteorologia) , Adulto Jovem
9.
Can J Public Health ; 109(5-6): 740-744, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30251119

RESUMO

SETTING: Shambhala is a 5-day electronic dance music (EDM) festival held in rural British Columbia that annually hosts between 15,000 and 18,000 people on a 500-acre ranch. The AIDS Network Outreach & Support Society (ANKORS) has provided harm reduction services throughout the duration of the festival since 2003, including point-of-care drug checking, which allows real-time testing of illicit substances to assess their composition. Drug checking results are provided directly to clients and displayed in aggregate on a screen for all attendees to see. INTERVENTION: In 2017, ANKORS added fentanyl checking to their repertoire of drug checking technologies for festivalgoers. Volunteers used a brief survey to collect information on what clients expected the samples to contain. Volunteers carried out drug checks and subsequently logged test results. ANKORS provided an amnesty bin at the tent for clients who chose to discard their substances. OUTCOMES: Of the 2683 surveys, 2387 included data on both the client's belief and the actual test result. Clients were more likely to discard when the test result differed from their belief (5.16%) than when their belief was confirmed (0.69%). Discarding increased to 15.54% when the test could not clearly identify a substance and to 30.77% if the client did not have a prior belief of the substance. Of 1971 samples tested for fentanyl, 31 tested positive and 16.13% of clients discarded compared to 2.63% in the negative group. IMPLICATIONS: Drug checking services appeal to festivalgoers who, when faced with uncertainty, may discard their substances. This innovative harm reduction service allows for a personalized risk discussion, potentially reaching others via word-of-mouth and early warning systems.


Assuntos
Redução do Dano , Saúde Pública , Detecção do Abuso de Substâncias/estatística & dados numéricos , Colúmbia Britânica/epidemiologia , Dança , Overdose de Drogas/epidemiologia , Fentanila/isolamento & purificação , Férias e Feriados , Humanos , Música , População Rural
10.
Harm Reduct J ; 15(1): 19, 2018 04 06.
Artigo em Inglês | MEDLINE | ID: mdl-29625621

RESUMO

BACKGROUND: Harm reduction has been at the forefront of the response to the opioid overdose public health emergency in British Columbia (BC). The unprecedented number of opioid overdose deaths in the province calls for an expansion of harm reduction services. The purpose of this study was to determine the acceptability of a fentanyl urine drug test among people who use drugs (PWUD) and explore whether testing introduced any changes in participants' attitudes and behaviors towards their drug use. METHODS: A pilot of fentanyl urine testing was implemented in partnership with an outreach harm reduction program in rural BC. Participants were PWUD who had consumed within the last 3 days prior to the test. Participants filled out a semi-structured questionnaire at the time of the test and were invited for a follow-up interview 2 to 4 weeks after the test. Urine samples were tested with BNTX Rapid Response™ fentanyl urine strip test at a detection level of 20 ng/ml norfentanyl. RESULTS: Of the 24 participants who completed the urine test and first interview, 4 had a positive fentanyl urine test. Fifteen clients completed the second questionnaire, 10 of whom reported introducing a behavior change after testing and the remaining 5 indicated being already engaged in harm reduction practices. All four clients who tested positive completed the second questionnaire; all but one indicated adopting behaviors towards overdose prevention. DISCUSSION: Fentanyl urine testing appealed to illicit opioid users and may have contributed to adopting behaviors towards safer drug use. A relationship of trust between tester and client seemed important for clients who expressed concerns with privacy of the urine test results. Post-consumption urine testing could complement the use of pre-consumption drug checking in the context of harm reduction services.


Assuntos
Analgésicos Opioides/urina , Fentanila/urina , Redução do Dano , Conhecimentos, Atitudes e Prática em Saúde , Transtornos Relacionados ao Uso de Opioides/prevenção & controle , População Rural/estatística & dados numéricos , Adulto , Colúmbia Britânica , Overdose de Drogas/prevenção & controle , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Adulto Jovem
11.
CMAJ Open ; 5(4): E740-E745, 2017 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-28974533

RESUMO

BACKGROUND: Women in rural and remote northern Alberta access breast cancer screening through a mobile mammogram program (Screen Test). The Enhanced Access to Cervical and Colorectal Cancer Screening (EACS) project was a 2-year pilot that aimed to integrate cervical and colorectal cancer screening with the Screen Test program. This study compares cervical and colorectal cancer screening uptake among women screened through the pilot (Screen Test-EACS) versus Screen Test. METHODS: Screen Test-EACS was offered between 2013 and 2015 in selected rural and remote sites, with a focus on hard-to-reach women living in First Nations, Métis and Hutterite communities. Participation in cervical and colorectal cancer screening was analyzed for Screen Test and Screen Test-EACS participants 6 weeks before clients received their mammogram and then again 3 months after. RESULTS: A total of 8390 and 1312 women participated in Screen Test and Screen Test-EACS, respectively. Screen Test-EACS significantly increased uptake of cervical (10.1% v. 27.5%) and colorectal (10.9% v. 22.5%) cancer screening, increasing the prevalence of women up to date with screening from 52.5% to 62.9% for cervical cancer screening and from 37.3% to 48.7% for colorectal cancer screening. INTERPRETATION: Screen Test-EACS increased participation in and the overall prevalence of cervical and colorectal cancer screening among hard-to-reach clients in northern Alberta, probably through removal of barriers to access and increased awareness. Further research should focus on balancing the benefits of increased participation with the costs and potential risks of over-screening.

12.
J Low Genit Tract Dis ; 21(1): 17-20, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27824788

RESUMO

OBJECTIVE: To examine the screening history of invasive cervical cancer (ICC) cases in Alberta, Canada to identify areas for improvement of the population-based cervical cancer screening program. METHODS: Retrospective review of ICC cases diagnosed in 2 cities in Alberta between 2007 and 2012. Cancer morphology and staging were elicited from the Alberta Cancer Registry; cancer screening history and Pap test results were extracted from the Provincial Cervical Cancer Screening database. Women were classified as adequately screened, underscreened, and unscreened depending on time from last screening Pap test to diagnosis. RESULTS: Of the 280 cases that occurred in women eligible for screening, 125 (44.6%) were adequately screened, 18 (6.4%) were underscreened, and 137 (49%) were unscreened. Among the adequately screened, 71 (56.8%) had normal Pap test results, but 48 (38%) had less than 3 previous Pap tests (p = .003). Cancer stages I to II were diagnosed in 48.8% and 44.1% of adequately screened and unscreened women and cancer stages III to IV in 30.6% and 66.1% in each group, respectively (p = .0058). Squamous cell carcinoma (SCC) was diagnosed in 189 women (67.5%). The proportion of SCCs was similar in adequately screened and unscreened women. CONCLUSIONS: The proportion of SCCs and advanced stages of ICC seems to be decreased. The results of quality improvement initiatives such as enhanced surveillance of high-grade Pap test results and histology-cytology correlation will be monitored and are expected to result in better outcomes for adequately screened women.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Detecção Precoce de Câncer/estatística & dados numéricos , Teste de Papanicolaou/estatística & dados numéricos , Neoplasias do Colo do Útero/diagnóstico , Adulto , Idoso , Alberta , Carcinoma de Células Escamosas/patologia , Cidades , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias do Colo do Útero/patologia , Adulto Jovem
13.
PLoS One ; 11(8): e0161187, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27518708

RESUMO

Cancer screening guidelines recommend that women over 50 years regularly be screened for breast, cervical and colorectal cancers. Population-based screening programs use performance indicators to monitor uptake for each type of cancer screening, but integrated measures of adherence across multiple screenings are rarely reported. Integrated measures of adherence that combine the three cancers cannot be inferred from measures of screening uptake of each cancer alone; nevertheless, they can help discern the proportion of women who, having received one or two types of screening, may be more amenable to receiving one additional screen, compared to those who haven't had any screening and may experience barriers to access screening such as distance, language, and so on. The focus of our search was to identify indicators of participation in the three cancers, therefore our search strategy included synonyms of integrated screening, cervical, breast and colorectal cancer screening. Additionally, we limited our search to studies published between 2000 and 2015, written in English, and pertaining to females over 50 years of age. The following databases were searched: MEDLINE, EMBASE, EBM Reviews, PubMed, PubMed Central, CINAHL, and Nursing Reference Center, as well as grey literature resources. Of the 78 initially retrieved articles, only 7 reported summary measures of screening across the three cancers. Overall, adherence to cervical, breast and colorectal cancer screening ranged from around 8% to 43%. Our review confirms that reports of screening adherence across breast, cervical and colorectal cancers are rare. This is surprising, as integrated cancer screening measures can provide additional insight into the needs of the target population that can help craft strategies to improve adherence to all three screenings.


Assuntos
Detecção Precoce de Câncer/métodos , Detecção Precoce de Câncer/normas , Neoplasias/diagnóstico , Indicadores de Qualidade em Assistência à Saúde/normas , Promoção da Saúde , Humanos , Neoplasias/prevenção & controle
15.
Can J Public Health ; 103(1): 40-5, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22338327

RESUMO

OBJECTIVES: Best practice guidelines recommend vision testing in children 3 to 5 years of age for the prevention of amblyopia; however, universal vision screening is controversial. In Canada, amblyopia screening can be the responsibility of physicians, optometrists, and/or Public Health. We review the evidence underlying preschool vision screening for amblyopia using an Evidence-based Public Health (EBPH) approach, and consider implications for the Public Health provision of universal screening programs for amblyopia in Canadian jurisdictions in light of present practices. METHODS: We searched the literature to address each major screening criterion (disease, test, treatment, program requirements) necessary to support preschool vision screening for amblyopia. We also reappraised papers cited in two systematic reviews related to the impact of vision screening. The Chief Medical Officer of Health of each province/territory was sent a short survey asking whether there currently was a Public Health preschool vision screening program in place and if so, for specifics about the program. RESULTS: An EBPH approach to the literature with respect to the criteria for screening and available intervention studies support amblyopia screening by Public Health. There is a public health divide in amblyopia screening practice in Canada; while some provinces maintain organized programs, others have chosen to delegate the task to other professionals, without a concurrent surveillance function to monitor disparities in uptake. CONCLUSIONS: Amblyopia deserves attention from Public Health. Efforts should be made to maintain existing programs, and provinces without organized screening programs should reconsider their role in the prevention of inequities with regard to preventable blindness in Canadian children.


Assuntos
Ambliopia/prevenção & controle , Seleção Visual , Canadá , Pré-Escolar , Medicina Baseada em Evidências , Pesquisas sobre Atenção à Saúde , Humanos , Seleção Visual/métodos , Seleção Visual/organização & administração
17.
Invest Ophthalmol Vis Sci ; 51(4): 2248-62, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19933199

RESUMO

Purpose. To investigate the impact of progressive age-related photoreceptor degeneration on retinal integrity in Stargardt-like macular dystrophy (STGD3). Methods. The structural design of the inner retina of the ELOVL4 transgenic mouse model of STGD3 was compared with that of age-matched littermate wild-type (WT) mice from 1 to 24 months of age by using immunohistofluorescence and confocal microscopy and by relying on antibodies against cell-type-specific markers, synapse-associated proteins, and neurotransmitters. Results. Müller cell reactivity occurred at the earliest age studied, before photoreceptor loss. This finding is perhaps not surprising, considering the cell's ubiquitous roles in retina homeostasis. Second-order neurons displayed salient morphologic changes as a function of photoreceptoral input loss. Age-related sprouting of dendritic fibers from rod bipolar and horizontal cells into the ONL did not occur. In contrast, with the loss of photoreceptor sensory input, these second-order neurons progressively bore fewer synapses. After rod loss, the few remaining cones showed abnormal opsin expression, revealing tortuous branched axons. After complete ONL loss (beyond 18 months of age), localized areas of extreme retinal disruptions were observed in the central retina. RPE cell invasion, dense networks of strongly reactive Müller cell processes, and invagination of axons and blood vessels were distinctive features of these regions. In addition, otherwise unaffected cholinergic amacrine cells displayed severe perturbation of their cell bodies and synaptic plexi in these areas. Conclusions. Remodeling in ELOVL4 transgenic mice follows a pattern similar to that reported after other types of hereditary retinopathies in animals and humans, pointing to a potentially common pathophysiologic mechanism.


Assuntos
Modelos Animais de Doenças , Degeneração Macular/fisiopatologia , Células Fotorreceptoras de Vertebrados/patologia , Neurônios Retinianos/patologia , Envelhecimento/fisiologia , Animais , Biomarcadores/metabolismo , Proteínas de Transporte/genética , Eletrorretinografia , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Genótipo , Degeneração Macular/genética , Degeneração Macular/metabolismo , Masculino , Proteínas de Membrana/genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Microscopia Confocal , Compostos de Piridínio/metabolismo , Retinoides/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , cis-trans-Isomerases
18.
Hum Mol Genet ; 18(6): 1110-21, 2009 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-19129173

RESUMO

Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in patients with both ocular and vertebral anomalies, characterized their effects with a SOX9-reporter assay and western analysis, and demonstrated comparable phenotypes in model organisms with reduced Gdf6 function. We observed a spectrum of ocular and skeletal anomalies in morphant zebrafish, the latter encompassing defective tail formation and altered expression of somite markers noggin1 and noggin2. Gdf6(+/-) mice exhibited variable ocular phenotypes compatible with phenotypes observed in patients and zebrafish. Key differences evident between patients and animal models included pleiotropic effects, variable expressivity and incomplete penetrance. These data establish the important role of this determinant in ocular and vertebral development, demonstrate the complex genetic inheritance of these phenotypes, and further understanding of BMP function and its contributions to human disease.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Fator 6 de Diferenciação de Crescimento/genética , Penetrância , Sequência de Aminoácidos , Animais , Análise Mutacional de DNA , Genes Reporter , Fator 6 de Diferenciação de Crescimento/química , Humanos , Camundongos , Modelos Animais , Dados de Sequência Molecular , Proteínas Mutantes/química , Proteínas Mutantes/genética , Mutação/genética , Oligonucleotídeos Antissenso/farmacologia , Peixe-Zebra , Proteínas de Peixe-Zebra/química , Proteínas de Peixe-Zebra/genética
19.
Vision Res ; 48(27): 2723-31, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18824014

RESUMO

The most widespread models to study blindness, rats and mice, have retinas containing less than 3% cones. The diurnal rodent Arvicanthis niloticus retina has around 35% cones. Using ERG recordings, we studied retina function in this species. Several features differed from that reported in rats and mice: (a) fivefold larger photopic a-wave amplitudes; (b) photopic hill effect in Nile grass rats only; and (c) flicker amplitude plateau between 5 to 35 Hz with fusion beyond 60 Hz in Nile grass rats only. We conclude that A. niloticus might complement rats and mice for studying retinal function and pathologies involving cones.


Assuntos
Ritmo Circadiano/fisiologia , Muridae/fisiologia , Células Fotorreceptoras Retinianas Cones/fisiologia , Adulto , Animais , Adaptação à Escuridão/fisiologia , Modelos Animais de Doenças , Eletrorretinografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Muridae/anatomia & histologia , Estimulação Luminosa/métodos , Células Fotorreceptoras Retinianas Cones/citologia , Limiar Sensorial/fisiologia , Especificidade da Espécie , Adulto Jovem
20.
J Comp Neurol ; 510(5): 525-38, 2008 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-18680202

RESUMO

Unlike laboratory rats and mice, muridae of the Arvicanthis family (A. ansorgei and A. niloticus) are adapted to functioning best in daylight. To date, they have been used as experimental models mainly in studies of circadian rhythms. However, recent work aimed at optimizing photoreceptor-directed gene delivery vectors (Khani et al. [2007] Invest Ophthalmol Vis Sci 48:3954-3961) suggests their potential usefulness for studying retinal pathologies and therapies. In the present study we analyzed the retinal anatomy and visual performance of the Nile grass rat (A. niloticus) using immunohistofluorescence and the optokinetic response (OKR). We found that approximately 35-40% of photoreceptors are cones; that many neural features of the inner retina are similar to those in other diurnal mammals; and that spatial acuity, measured by the OKR, is more than two times that of the usual laboratory rodents. These observations are consistent with the known diurnal habits of this animal, and further support its pertinence as a complementary model for studies of structure, function, and pathology in cone-rich mammalian retinae.


Assuntos
Muridae , Retina/anatomia & histologia , Células Fotorreceptoras Retinianas Cones/fisiologia , Acuidade Visual/fisiologia , Animais , Comportamento Animal/fisiologia , Biomarcadores/metabolismo , Feminino , Masculino , Muridae/anatomia & histologia , Muridae/fisiologia , Retina/fisiologia , Células Fotorreceptoras Retinianas Cones/citologia
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