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1.
Cell ; 136(2): 337-51, 2009 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-19167334

RESUMO

Activation of Ras proteins underlies functional decisions in diverse cell types. Two molecules, RasGRP and SOS, catalyze Ras activation in lymphocytes. Binding of active Ras to SOS' allosteric pocket markedly increases SOS' activity establishing a positive feedback loop for SOS-mediated Ras activation. Integrating in silico and in vitro studies, we demonstrate that digital signaling in lymphocytes (cells are "on" or "off") is predicated upon feedback regulation of SOS. SOS' feedback loop leads to hysteresis in the dose-response curve, which can enable a capacity to sustain Ras activation as stimuli are withdrawn and exhibit "memory" of past encounters with antigen. Ras activation via RasGRP alone is analog (graded increase in amplitude with stimulus). We describe how complementary analog (RasGRP) and digital (SOS) pathways act on Ras to efficiently convert analog input to digital output. Numerous predictions regarding the impact of our findings on lymphocyte function and development are noted.


Assuntos
Linfócitos B/metabolismo , Transdução de Sinais , Linfócitos T/metabolismo , Proteínas ras/metabolismo , Animais , Linfócitos B/citologia , Linhagem Celular , Galinhas , Simulação por Computador , Humanos , Células Jurkat , Ativação Linfocitária , Linfócitos T/citologia
2.
Retina ; 43(5): 823-831, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-36728901

RESUMO

PURPOSE: To compare the efficacy of conventional laser and subthreshold micropulse laser (SML) in treating diabetic macular edema in terms of functional outcomes and changes in quantitative metrics for the retinal capillary and choriocapillary vascular layers. METHODS: Fifty-two eyes from 52 patients with treatment-naive, clinically significant macular edema were randomly assigned to the conventional laser group or SML group in a 1:1 ratio. Best-corrected visual acuity, central macular thickness (CMT), and optical coherence tomography angiography scans were measured at baseline, 1, 3, and 6 months after treatment. RESULTS: The SML group showed rapid visual recovery, improving from baseline of 0.320 ± 0.31 logarithm of the minimum angle of resolution (20/42 Snellen) to 0.270 ± 0.22 logarithm of the minimum angle of resolution (20/37 Snellen) at 1 month ( P = 0.038) and had significant improvements in CMT at 6-month post-treatment (353.88-301.00 µ m, P = 0.005). Statistically significant changes were detected across all optical coherence tomography angiography metrics, including vessel density, vessel length density, vessel diameter index, and fractal dimension, at 6 months for both groups in the deep capillary plexus and choriocapillary plexus. CONCLUSION: Subthreshold micropulse laser resulted in early visual recovery and sustained macular thickness improvement in the treatment of diabetic macular edema. Microvascular perfusion parameters, including vessel density, vessel length density, and fractal dimension, improved in the deep capillary plexus and choriocapillary plexus for both treatment groups at 6 months post-treatment.


Assuntos
Diabetes Mellitus , Retinopatia Diabética , Edema Macular , Humanos , Edema Macular/diagnóstico , Edema Macular/cirurgia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/cirurgia , Tomografia de Coerência Óptica , Fotocoagulação a Laser/métodos , Retina/cirurgia , Angiografia , Lasers Semicondutores , Resultado do Tratamento
3.
J Med Internet Res ; 25: e47595, 2023 10 30.
Artigo em Inglês | MEDLINE | ID: mdl-37902832

RESUMO

BACKGROUND: Generation Z (born 1995-2010) members are digital residents who use technology and the internet more frequently than any previous generation to learn about their health. They are increasingly moving away from conventional methods of seeking health information as technology advances quickly and becomes more widely available, resulting in a more digitalized health care system. Similar to all groups, Generation Z has specific health care requirements and preferences, and their use of technology influences how they look for health information. However, they have often been overlooked in scholarly research. OBJECTIVE: First, we aimed to identify the information-seeking preferences of older individuals and Generation Z (those between the ages of 18 and 26 years); second, we aimed to predict the effects of digital health literacy and health empowerment in both groups. We also aimed to identify factors that impact how both groups engage in digital health and remain in control of their own health. METHODS: The Health Information National Trends Survey was adopted for further use in 2022. We analyzed 1862 valid data points by conducting a survey among Chinese respondents to address the research gap. A descriptive analysis, 2-tailed t test, and multiple linear regression were applied to the results. RESULTS: When compared with previous generations, Generation Z respondents (995/1862, 53.44%) were more likely to use the internet to find out about health-related topics, whereas earlier generations relied more on traditional media and interpersonal contact. Web-based information-seeking behavior is predicted by digital health literacy (Generation Z: ß=.192, P<.001; older population: ß=.337, P<.001). While this was happening, only seeking health information from physicians positively predicted health empowerment (Generation Z: ß=.070, P=.002; older population: ß=.089, P<.001). Despite more frequent use of the internet to learn about their health, Generation Z showed lower levels of health empowerment and less desire to look for health information, overall. CONCLUSIONS: This study examined and compared the health information-seeking behaviors of Generation Z and older individuals to improve their digital health literacy and health empowerment. The 2 groups demonstrated distinct preferences regarding their choice of information sources. Health empowerment and digital health literacy were both significantly related to information-seeking behaviors.


Assuntos
Letramento em Saúde , Telemedicina , Humanos , Adolescente , Adulto Jovem , Adulto , Comportamento de Busca de Informação , Letramento em Saúde/métodos , Estudos Transversais , Telemedicina/métodos , Inquéritos e Questionários , Internet , Poder Psicológico
4.
Int Ophthalmol ; 43(8): 2971-2981, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37000311

RESUMO

PURPOSE: The purpose of the study was to describe the cases of intraocular inflammation following COVID-19 vaccination (Comirnaty mRNA vaccine and CoronaVac vaccine) in Hong Kong. METHODS: This was a retrospective case series. RESULTS: This series includes 16 eyes among 10 female patients, with a mean age of 49.4 ± 17.4 years. Eight patients (80%) received the Pfizer-BioNTech mRNA vaccination. Anterior uveitis was the most common presentation of postvaccination uveitis (50%) observed in our series, followed by intermediate uveitis (30%) and posterior uveitis (20%), respectively. A case of retinal vasculitis in the form of frosted branch angiitis, previously only reported following COVID-19 infection, was observed following COVID-19 vaccination. The median time from vaccination to uveitis onset was 15.2 days (range: 0-6 weeks). Inflammation in 11 out 16 eyes (68.75%) was completely resolved with topical steroids. CONCLUSION: Anterior uveitis was the predominant presentations of uveitis flare-ups following COVID-19 in our case series, followed by intermediate uveitis. Aligning with the current global literature concerning this issue, most of the uveitis attacks presented as anterior uveitis and were completely resolved with topical steroids. Consequently, the risk of uveitis flare-ups should not deter the public from receiving COVID-19 vaccines.


Assuntos
COVID-19 , Uveíte Anterior , Uveíte Intermediária , Uveíte , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Vacinas contra COVID-19/efeitos adversos , Estudos Retrospectivos , COVID-19/prevenção & controle , Uveíte/diagnóstico , Uveíte/etiologia , Inflamação/etiologia , Uveíte Anterior/diagnóstico , Uveíte Anterior/etiologia , Vacinação/efeitos adversos
5.
Rev Med Suisse ; 19(842): 1718-1721, 2023 Sep 20.
Artigo em Francês | MEDLINE | ID: mdl-37728267

RESUMO

The Nurse consultation (CI) was implemented in 2013 at the emergency department of the Lausanne Children's Hospital. It offers medical delegated care for children aged three to 18. Ten years after its implementation, this article takes stock of its progress. Patients and families are satisfied with the care provided at a rate of 94.3 %. The CI seems to offer quality and safe healthcare. It allows the emergency team to have more time and resources for patients whose lives are at risk or need careful assessment due to their age or medical history. The CI is an innovative and relevant model of care in the context of uncomplicated childhood illnesses.


La consultation infirmière (CI) a été mise en place en 2013 aux urgences de l'Hôpital de l'enfance de Lausanne (HEL). Elle propose une prise en charge sous délégation médicale d'enfants âgés de trois à 18 ans. Dix ans après son implantation, cet article fait le point. Les patients et familles sont satisfaits de la prise en charge à 94,3 %. La CI semble offrir des soins de qualité et sécuritaires. Elle permet à l'équipe des urgences d'avoir plus de temps et de moyens pour les patients dont le pronostic vital est engagé ou qui sont à risque au vu de leur âge ou leurs antécédents. La CI est un modèle innovant et pertinent de prise en charge dans un contexte de pathologies simples de pédiatrie.


Assuntos
Serviço Hospitalar de Emergência , Encaminhamento e Consulta , Criança , Humanos
6.
Int Ophthalmol ; 41(9): 3199-3209, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34037904

RESUMO

PURPOSE: To report the clinical presentations of ocular tuberculosis infection (OTB) and the treatment regimen and outcome in an endemic area. METHODS: This is a retrospective case series of patients with presumed OTB treated in a tertiary teaching hospital in Hong Kong in 2014-2019. RESULTS: Among the nineteen patients recruited, the most common clinical presentation of OTB was retinal vasculitis (42.1%), followed by scleritis, intermediate uveitis, and choroidal tuberculoma (15.8% respectively). 94.7% and 94.4% of the subjects were treated with ATT and steroid, respectively, and 31.6% were put on systemic immunosuppressant prior to the initiation of ATT. Apart from those suffering from intermediate uveitis, most demonstrated good clinical response within 8 weeks of ATT initiation. CONCLUSION: Ocular involvement of TB has been increasingly recognized, especially in endemic regions like Hong Kong. High index of suspicion is recommended for OTB in typical clinical phenotypes or recurrent/resistant ocular inflammation unresponsive to conventional therapy. TB retinal vasculitis was the most common presentation of OTB in this study and OTB generally requires treatment with either regional or systemic steroid together with ATT.


Assuntos
Tuberculose Ocular , Uveíte , Antituberculosos/uso terapêutico , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Tuberculose Ocular/diagnóstico , Tuberculose Ocular/tratamento farmacológico , Tuberculose Ocular/epidemiologia , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Uveíte/epidemiologia
7.
Int Ophthalmol ; 40(11): 2969-2977, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32613460

RESUMO

PURPOSE: This study compares outcomes and complications of scleral-fixated intraocular lens implantation between 2 levels of surgeons. METHODS: A retrospective case series of patients undergoing scleral-fixated intraocular lens implantation at Prince of Wales Hospital, Hong Kong, between May 2012 and April 2017 were reviewed. Data collected included age, gender, affected eye, preoperative and postoperative visual acuities, refractive target and outcome, surgeon profile, operative details including method of scleral fixation, intraoperative and postoperative complications and length of follow-up. RESULTS: Ninety eyes of 90 patients were included for analyses. The mean LogMAR visual acuities were 1.17 ± 0.70 at postoperative week 1, 0.81 ± 0.56 at 1 month, 0.66 ± 0.55 at 3 months, 0.56 ± 0.59 at 6 months, and 0.51 ± 0.60 at 1 year, respectively. After adjusting for age at operation, operative time, axial length, subspecialty of the surgeon and preoperative LogMAR, surgeon seniority was not significantly associated with final visual outcomes. There was no statistically significant difference between the mean improvement in visual acuities between eyes operated by consultants and fellows under direct supervision of a senior surgeon. CONCLUSION: Scleral-fixated intraocular lens implantation is safe and effective in improving visual acuity in aphakic adults without capsular support. Under good supervision, fellows were able to produce comparable results compared with experienced specialists.


Assuntos
Afacia Pós-Catarata , Lentes Intraoculares , Adulto , Afacia Pós-Catarata/cirurgia , Seguimentos , Hong Kong , Humanos , Implante de Lente Intraocular , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Esclera/cirurgia , Técnicas de Sutura , Resultado do Tratamento
8.
Exp Eye Res ; 187: 107748, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31377148

RESUMO

PURPOSE: Intronic variants in the placental growth factor (PGF) gene have been associated with neovascular age-related macular degeneration (AMD). This study is to discover and characterize rare variants in the PGF gene for neovascular AMD. METHODS: The promoter region, coding sequences and splicing regions of the PGF gene were sequenced in a Hong Kong southern Chinese cohort of 235 neovascular AMD patients and 435 controls. A detected 18 base-pair deletion variant in the promoter region of PGF was analyzed in a Shantou southern Chinese cohort of 189 neovascular AMD patients and 846 controls. The transcription activity of this disease-associated promoter variant was determined in human ARPE-19 cells by promoter-luciferase analysis. RESULTS: A novel 18-base-pair deletion mutation in the promoter region of PGF was identified in 3 (1.28%) patients and 1 (0.23%) control subject (OR = 5.61; 95% CI 0.58-54.26) in the Hong Kong cohort, and in 2 (1.06%) patients and 2 (0.24%) controls (OR = 4.51; 95% CI: 0.63-32.25) in the Shantou cohort. In the combined southern Chinese sample, this deletion had a significant association with neovascular AMD (P = 0.026; OR = 5.08, 95% CI: 1.21-21.36). The 18-base-pair deletion was predicted to alter the transcription factor binding sites in the PGF promoter, and higher luciferase expression was detected in ARPE-19 cells transfected with the deletion variant plasmid than those transfected with wild type plasmid (P = 0.0002). CONCLUSIONS: This study identified a rare, functional promoter variant in the PGF gene that increases PGF transcription activity and confers a 5-fold risk to neovascular AMD.


Assuntos
Neovascularização de Coroide/genética , Variação Genética/genética , Fator de Crescimento Placentário/genética , Regiões Promotoras Genéticas/genética , Degeneração Macular Exsudativa/genética , Idoso , Idoso de 80 Anos ou mais , Povo Asiático/genética , Sequência de Bases , Linhagem Celular , Neovascularização de Coroide/diagnóstico , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Ativação Transcricional , Acuidade Visual , Degeneração Macular Exsudativa/diagnóstico
9.
Int Ophthalmol ; 39(4): 903-909, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29907928

RESUMO

AIM: To describe and evaluate the trends in the incidence of retinopathy of prematurity over a 10-year period in a tertiary hospital in Hong Kong. METHODS: A retrospective review was performed on all preterm infants screened and/or treated for retinopathy of prematurity from January 2006 to December 2015 at Prince of Wales Hospital, Hong Kong. Preterm infants with incomplete records or transferred-in from other hospitals/region solely for treatment of ROP were excluded. The incidence of any ROP or Type 1 ROP was analysed with gestational age and birth weight over a 10-year period with consecutive 2-year intervals to evaluate the trends. RESULTS: Of all 754 infants included in the study, 234 (31.0%) patients had any ROP and 34 (4.5%) infants developed Type 1 ROP. The incidence of any ROP demonstrated a statistically significant decreasing trend over the five consecutive 2-year intervals (p = 0.016), but the incidence trend of Type 1 ROP is not statistically significant. No infants weighing more than 1250 g developed Type 1 ROP. CONCLUSION: We observed a decreasing trend in the incidence of any ROP across the 10-year period in a tertiary hospital in Hong Kong, while the incidence of Type 1 ROP remained stable at 4.5%. The factors leading to the trend were unclear. Improved prenatal care, changing proportion of cases with different birth weight and gestational age, oxygenation level practice in neonatal unit may all contribute to the decreasing trend. Revision of screening criteria may be made according to local experience to maximise cost-effectiveness.


Assuntos
Retinopatia da Prematuridade/epidemiologia , Peso ao Nascer , Feminino , Idade Gestacional , Hong Kong/epidemiologia , Humanos , Incidência , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Estudos Retrospectivos , Fatores de Risco
10.
Int Ophthalmol ; 38(3): 1329-1332, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28536762

RESUMO

PURPOSE: To report a case of bilateral varicella zoster virus (VZV)-associated acute retinal necrosis (ARN) occurring after both eyes sequential cataract surgery in an elderly immunocompromised patient. METHODS: Medical records and investigation results of the patient were reviewed. RESULTS: Patient experienced floaters and blurring of vision in both eyes 4 weeks after her second uncomplicated cataract surgery. Clinical signs of granulomatous keratic precipitates, prominent vitritis, retinitis and vascular thrombosis were noted in both eyes. Aqueous samples from both eyes were positive for VZV. Disease was treated with intravitreal foscarnet bilaterally and 10 days of systemic intravenous acyclovir (10 mg/kg) followed by oral valaciclovir 1 g three times daily. Final visual acuity at 4 months after initial presentation was 20/60 in both eyes with no retinal detachment noted. CONCLUSIONS: Cataract surgery may have been the trigger for bilateral VZV-associated ARN. Immunocompromised patients can develop ARN and require close observation after cataract surgery. This is, to our knowledge, the first report of bilateral ARN following routine cataract surgery.


Assuntos
Extração de Catarata/efeitos adversos , Infecções Oculares Virais/etiologia , Herpesvirus Humano 3/imunologia , Hospedeiro Imunocomprometido , Síndrome de Necrose Retiniana Aguda/etiologia , Infecção da Ferida Cirúrgica/etiologia , Infecção pelo Vírus da Varicela-Zoster/etiologia , Idoso , Anticorpos Antivirais/imunologia , Infecções Oculares Virais/virologia , Feminino , Humanos , Síndrome de Necrose Retiniana Aguda/imunologia , Síndrome de Necrose Retiniana Aguda/virologia , Infecção da Ferida Cirúrgica/imunologia , Infecção da Ferida Cirúrgica/virologia , Infecção pelo Vírus da Varicela-Zoster/diagnóstico , Infecção pelo Vírus da Varicela-Zoster/virologia , Acuidade Visual
11.
Retina ; 36(3): 432-48, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26716954

RESUMO

PURPOSE: To review the pathophysiology, diagnosis, and updated treatments of retinal vein occlusions (RVOs). METHODS: A review of the literature was performed, focusing on the epidemiology, pathophysiology, diagnosis, and treatments (including both medical and surgical treatments) of RVO. Based on this review, a comprehensive overview was provided regarding the topic of RVO and focused on recent treatment updates. RESULTS: Retinal vein occlusions have an age- and sex-standardized prevalence of 5.20 per 1,000 for any RVO, 4.42 per 1,000 for branch RVO, 0.80 per 1,000 for central RVO. Worldwide, an estimated 16.4 million adults are affected by RVOs, with 2.5 million affected by central RVO and 13.9 million affected by branch RVO. Retinal vein occlusion is recognized as an important cause of blindness and the diagnostic approaches and treatment options for RVO are reviewed and reported. The current treatment options including medical treatments (bevacizumab, ranibizumab, aflibercept, triamcinolone, and dexamethasone implants) and surgical alternatives were reviewed and reported with summaries on the corresponding strength of evidence. CONCLUSION: Despite the understanding of this disease entity, challenges persist in the long-term treatment of RVO-related complications and visual loss. This review provided a detailed summary on the rationality and efficacy of recently developed treatment regimes and evaluated the potential benefit of combination therapy.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Glucocorticoides/uso terapêutico , Edema Macular/tratamento farmacológico , Oclusão da Veia Retiniana/tratamento farmacológico , Bevacizumab/uso terapêutico , Humanos , Injeções Intravítreas , Edema Macular/diagnóstico , Edema Macular/epidemiologia , Edema Macular/fisiopatologia , Ranibizumab/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/epidemiologia , Oclusão da Veia Retiniana/fisiopatologia , Triancinolona Acetonida/uso terapêutico , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores
12.
Ophthalmology ; 121(4): 911-6, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24393350

RESUMO

PURPOSE: To investigate the associations of genetic variants in the high-density lipoprotein (HDL) metabolism pathway with neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). DESIGN: Cross-sectional, case-control association study. PARTICIPANTS: A Chinese case-control group of 200 neovascular AMD patients, 233 PCV patients, and 275 control subjects. METHODS: Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA). MAIN OUTCOME MEASURES: Allele and genotypic frequencies of selected SNPs. RESULTS: The SNP rs3764261 in the cholesteryl ester transfer protein (CETP) gene was associated significantly with neovascular AMD (P = 1.82×10(-4); odds ratio [OR], 1.89) and PCV (P = 4.04×10(-4); OR, 1.80). The associations remained significant after adjusting for the CFH SNP rs800292 and the HTRA1 SNP rs11200638. A significant interaction between the CETP SNP rs3764261 and the CFH SNP rs800292 existed in both neovascular AMD and PCV, the rs800292 G allele conferring a significantly increased risk of the diseases only in individuals carrying the risk allele T of rs3764261. A borderline association was detected between the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene SNP rs57137919 and PCV (P = 0.03). CONCLUSIONS: Our results showed that CETP is a susceptibility gene for neovascular AMD and PCV and that ABCG1 a putative gene for PCV. CETP exerts a modifying effect on CFH in the genetic risk. Our data suggest a link of the HDL metabolism pathway with neovascular AMD and PCV.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Proteínas de Transferência de Ésteres de Colesterol/genética , HDL-Colesterol/metabolismo , Doenças da Coroide/genética , Pólipos/genética , Degeneração Macular Exsudativa/genética , Membro 1 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Doenças da Coroide/metabolismo , Doenças da Coroide/patologia , Fator H do Complemento/genética , Estudos Transversais , Feminino , Predisposição Genética para Doença , Genótipo , Técnicas de Genotipagem , Serina Peptidase 1 de Requerimento de Alta Temperatura A , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Pólipos/metabolismo , Pólipos/patologia , Reação em Cadeia da Polimerase em Tempo Real , Serina Endopeptidases/genética , Degeneração Macular Exsudativa/metabolismo , Degeneração Macular Exsudativa/patologia
13.
J Nurses Prof Dev ; 40(1): 41-44, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37812131

RESUMO

Gamification is an innovative pedagogy involving immersive technology that acknowledges learner-centric milieus and dynamic teaching practices. Gamification is positioned well in nursing education because learners can translate tools from team experiences, communication, and critical thinking questions into the healthcare setting. This article introduces an escape-the-room format that was constructed for a preceptor program at a large academic medical center. The results of the implementation encourage gamification as an engaging methodology in clinical education.


Assuntos
Educação em Enfermagem , Gamificação , Humanos , Atenção à Saúde , Comunicação , Escolaridade
14.
Asia Pac J Ophthalmol (Phila) ; 13(1): 100003, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38383077

RESUMO

PURPOSE: To evaluate the genetic associations of different subtypes of central serous chorioretinopathy (CSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV). DESIGN: A case-control genetic association study. METHODS: This study enrolled 217 CSCR, 341 nAMD, 288 PCV patients, and 1380 controls. The CSCR patients were classified into those with focal or diffuse leakage, with or without pigment epithelial detachment (PED), and with or without macular neovascularization (MNV). Associations between 11 variants from 8 genes, ADAMTS9, ANGPT2, ARMS2, CFH, NR3C2, PGF, TNFRSF10A and VIPR2, and diseases/subtypes were analyzed by logistic regression analysis adjusted for age and sex, and inter-phenotype comparison by heterogeneity test. RESULTS: The CFH rs800292-A conferred a protective effect for CSCR with MNV (OR=0.44, P = 0.002) and a risk effect for CSCR without MNV (OR=1.31, P = 0.023). CSCR patients carrying rs800292-G had a 3.23-fold of increased risk towards developing secondary MNV (P = 1.45 ×10-4). CFH rs3753394, rs800292 and rs1329428 showed similar effects among CSCR with MNV, nAMD and PCV, but opposite effects on CSCR without MNV. TNFRSF10A rs13278062-T was associated with overall CSCR but not with CSCR subtypes, nAMD or PCV. Moreover, CFH and ARMS2 SNPs showed heterogeneous effects in CSCR without MNV against CSCR with MNV, nAMD and PCV. CONCLUSIONS: Genetic associations of CSCR with MNV resembled nAMD and PCV compared to CSCR without MNV, indicating differential genetic effects on neovascularization and choroidopathy. Further investigation of the functional roles of CFH, ARMS2, and TNFRSF10A in CSCR, nAMD and PCV should help elucidate the mechanisms of these maculopathies.


Assuntos
Coriorretinopatia Serosa Central , Neovascularização de Coroide , Degeneração Macular , Humanos , Genótipo , Coriorretinopatia Serosa Central/genética , Vasculopatia Polipoidal da Coroide , Polimorfismo de Nucleotídeo Único , Degeneração Macular/genética , Neovascularização de Coroide/genética , Angiofluoresceinografia
15.
Mol Vis ; 19: 986-94, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23687435

RESUMO

PURPOSE: To determine the underlying genetic cause of Duane retraction syndrome (DRS) in a non-consanguineous Chinese Han family. METHODS: Detailed ophthalmic and physical examinations were performed on all members from a pedigree with DRS. All exons and their adjacent splicing junctions of the sal-like 4 (SALL4) gene were amplified with polymerase chain reaction and analyzed with direct sequencing in all the recruited family members and 200 unrelated control subjects. RESULTS: Clinical examination revealed a broad spectrum of phenotypes in the DRS family. Mutation analysis of SALL4 identified a novel heterozygous duplication mutation, c.1919dupT, which was completely cosegregated with the disease in the family and absent in controls. This mutation was predicted to cause a frameshift, introducing a premature stop codon, when translated, resulting in a truncated SALL4 protein, i.e., p.Met640IlefsX25. Bioinformatics analysis showed that the affected region of SALL4 shared a highly conserved sequence across different species. Diversified clinical manifestations were observed in the c.1919dupT carriers of the family. CONCLUSIONS: We identified a novel truncating mutation in the SALL4 gene that leads to diversified clinical features of DRS in a Chinese family. This mutation is predicted to result in a truncated SALL4 protein affecting two functional domains and cause disease development due to haploinsufficiency through nonsense-mediated mRNA decay.


Assuntos
Povo Asiático/genética , Síndrome da Retração Ocular/genética , Mutação/genética , Linhagem , Fatores de Transcrição/genética , Adulto , Idoso , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , China , Análise Mutacional de DNA , Síndrome da Retração Ocular/fisiopatologia , Feminino , Fixação Ocular/genética , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Dados de Sequência Molecular , Fenótipo , Fatores de Transcrição/química
16.
Ophthalmology ; 120(12): 2390-2395, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23870302

RESUMO

OBJECTIVE: To compare the long-term outcome of pterygium surgery and the long-term effect on endothelial counts after mitomycin C (MMC) or limbal conjunctival autograft (LCAU) in pterygium surgery. DESIGN: We performed a 10-year follow-up study of a randomized controlled trial. PARTICIPANTS: A total of 115 eyes of 114 patients with primary pterygium were treated with intraoperative MMC (n = 63) or LCAU transplants (n = 52). A total of 76 patients completed the current 10-year long-term follow-up (47 in the MMC group, 29 in the LCAU group). METHODS: This is a follow-up study of a randomized controlled trial of a cohort of 114 patients in 2 groups that was performed at the Prince of Wales Hospital 10 years ago: group 1, intraoperative 0.02% MMC for 5 minutes; group 2, LCAU. Consecutive patients enrolled in the original study (recruitment began in February 2001) were invited back for a detailed clinical examination to document the long-term outcome of both surgical groups. MAIN OUTCOME MEASURES: The main outcome measures included the recurrence rate, residual conjunctival bed status, complications, and corneal endothelial cell density (ECD) differences. RESULTS: A total of 115 eyes of 114 patients were enrolled and randomized in our previous study. For the current study, 76 of the 114 patients (47 in the MMC group, 29 in the LCAU group) were contacted, whereas 18 patients were lost to follow-up and 20 patients had died. The mean follow-up period was 138 ± 2 months in the MMC group and 137 ± 2 months in the LCAU group. Twelve of 47 patients (25.5%) in the original MMC group and 2 of 29 patients (6.9%) in the LCAU group had recurrent pterygium (P = 0.021). The mean ECD was 2,39 2 ± 342 cells/mm(2) in the MMC group and 2,390 ± 388 cells/mm(2) in the LCAU group (P = 0.978). There was no significant difference in the ECD between the operated eyes and the fellow eyes in both groups (P = 0.926 MMC, P = 0.468 LCAU). No other significant ocular complications were observed in either group at the 10-year postoperative follow-up. CONCLUSIONS: Limbal conjunctival autograft was more effective than intraoperative MMC in minimizing pterygium recurrence at the 10-year follow-up. Treatment with intraoperative MMC was not associated with long-term corneal endothelial cell loss.


Assuntos
Alquilantes/administração & dosagem , Túnica Conjuntiva/transplante , Mitomicina/administração & dosagem , Pterígio/cirurgia , Idoso , Idoso de 80 Anos ou mais , Contagem de Células , Terapia Combinada , Endotélio Corneano/patologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Prevenção Secundária , Retalhos Cirúrgicos , Transplante Autólogo , Resultado do Tratamento
17.
Ophthalmology ; 120(9): 1909-14, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23683921

RESUMO

PURPOSE: To measure choroidal thickness (CT) in myopic eyes using enhanced depth imaging (EDI). DESIGN: A cross-sectional study. PARTICIPANTS: Fifty-six consecutive patients with spherical equivalent refractive error of at least 6 diopters (D) were evaluated. METHODS: Enhanced depth imaging optical coherence tomography (OCT) images were obtained by positioning the spectral-domain OCT device close enough to the eye to acquire an enhanced signal of the choroidal layer. Choroidal depth was measured as the distance between the outer reflective retinal pigment epithelium (RPE) layer and the inner sclera border. Measurements were made in a horizontal fashion across the fovea at 500-µm intervals of the sections. The CT was measured at the subfoveal region in a horizontal fashion, 3 mm temporal to fovea and 3 mm nasal to fovea. MAIN OUTCOME MEASURES: Correlations among CT with age, refractive error in diopters, and visual acuity in logarithm of the minimum angle of resolution (logMAR) were analyzed with linear mixed models. RESULTS: The mean age of the 56 patients was 50.4 years (± 2.03 years standard deviation; interquartile range [IQR], 42-62 years), and the mean refractive error was -8.7 D (IQR, -6.1 to -11 D). The mean subfoveal CT was 118 µm (± 68 µm) and correlated negatively with age (P = 0.032) and refractive error (P = 0.011). Regression analysis suggested that subfoveal CT decreased by 11.9 µm for each decade of life and by 6.205 µm for each diopter of myopia. The subfoveal CT was inversely correlated with the logMAR visual acuity (P = 0.008), and visual acuity improved by 0.02 (logMAR) in a 10-µm increase in CT. CONCLUSIONS: Choroidal thickness decreases with age and severity of myopia. Visual acuity decreases in line with decreasing subfoveal CT. A reduction in CT is related to aging and the severity of myopia, whereas visual acuity depends on subfoveal CT. Our study supports the theory that choroidal abnormality may play a key role in the pathogenesis of myopic degeneration. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.


Assuntos
Envelhecimento/fisiologia , Corioide/patologia , Miopia/diagnóstico , Tomografia de Coerência Óptica , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Índice de Gravidade de Doença , Acuidade Visual/fisiologia , Adulto Jovem
18.
Ophthalmology ; 120(10): 2139-45, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23672972

RESUMO

PURPOSE: To study the effect of bicanalicular silicone intubation on endonasal endoscopic mechanical dacryocystorhinostomy (EEM-DCR) for primary acquired nasolacrimal duct obstruction (PANDO). DESIGN: Randomized clinical trial. PARTICIPANTS: A total of 120 consecutive adults (103 females) with a presenting age of 64 ± 13.7 years (range, 39-92 years) underwent EEM-DCR for PANDO from November 2005 to May 2009 in a lacrimal referral center. METHODS: The EEM-DCR was performed by 2 lacrimal surgeons using standard techniques. Patients were randomly assigned to receive or not receive bicanalicular silicone intubation for 8 weeks. No antimetabolite was used. All patients received a course of oral antibiotics during nonabsorbable nasal packing for flaps tamponade, which was removed at the first postoperative visit. Patients were assessed at 1, 3, 6, 12, 26, and 52 weeks after the operation. MAIN OUTCOME MEASURES: Surgical success was defined by symptomatic relief of epiphora, reestablishment of nasolacrimal drainage confirmed by irrigation by 1 masked observer, and positive functional endoscopic dye test by the operative surgeon at 12 months postoperatively. Intraoperative and postoperative complications were recorded. RESULTS: A total of 118 of the 120 randomized cases completed 12 months of follow-up. Two patients died of unrelated medical illnesses during follow-up. At 12 months postoperatively, there was no statistical difference in the success rate between patients with (96.3%) and without (95.3%) intubation (P=0.79). The odds ratio of failure without silicone intubation was 1.28 (95% confidence interval, 0.21-7.95). There was no difference in the incidence (P=0.97) or the time to develop (P=0.12) granulation tissue between the 2 groups. No significant difference was found between successful and failed cases in terms of age (P=0.21), sex (P=0.37), laterality (P=0.46), mode of anesthesia (P=0.14), surgeon (P=0.26), use of stent (P=0.79), or presence of granulation tissue postoperatively (P=0.39). CONCLUSIONS: The current study design provided 90% statistical power to detect more than 21% difference in surgical outcome, and no such difference was found whether intubation was used or not used in EEM-DCR for PANDO at the 12-month follow-up. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.


Assuntos
Dacriocistorinostomia , Dacriocistorinostomia/instrumentação , Intubação/instrumentação , Ducto Nasolacrimal/cirurgia , Elastômeros de Silicone , Stents , Adulto , Idoso , Idoso de 80 Anos ou mais , Dacriocistorinostomia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
19.
Hong Kong Med J ; 19(2): 150-5, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23535675

RESUMO

OBJECTIVE: To describe the clinicopathological characteristics of patients with eyelid tumours in Hong Kong. DESIGN: Retrospective case series. SETTING: A tertiary eye centre in Hong Kong. PATIENTS: A computerised retrieval system was used to identify all patients who underwent eyelid mass excisions with histological reports, encountered in the period 2000 to 2009, in a tertiary eye centre. The demographics (age, gender), clinical features (laterality, tumour topography), and the pathological diagnosis of each patient were documented. Descriptive statistical tabulation and analyses were performed on the data. RESULTS: In all, 198 patients were identified; all were Chinese. Their mean age was 54 years for benign lesions and 68 years for malignant ones. Women were more commonly affected. Benign tumourous lesions occurred more commonly on the upper (n=91; 54%) than lower eyelid (n=79; 47%), whereas malignant lesions more often affected the lower (n=17, 61%) than upper (n=11, 39%) eyelid. The distribution of left and right eye involvement was similar (103 vs 101, respectively). In six patients, there were bilateral benign lesion. Regarding benign masses, 45 (27%) were intradermal neavi, 38 (22%) were squamous papillomas, 25 (15%) were seborrhoeic keratosis lesions, 14 (8%) were epidermoid cysts, and 7 (4%) were compound naevi. Regarding malignant eyelid tumours, the most common was basal cell carcinomas (n=12, 43%), 5 (18%) were squamous cell carcinomas, 3 (11%) were actinic keratosis lesions, and 2 (7%) each were sebaceous gland carcinomas and melanomas. CONCLUSION: Benign lesions constituted the majority of these eyelid tumours. Among the malignant lesions, basal cell carcinoma was the commonest type, with lower lid involvement in majority. Sebaceous gland carcinoma is not rare, which is in contrast to Caucasian populations. The relative frequencies of the most common malignant tumours in Hong Kong differed substantially from those reported in other Asian studies.


Assuntos
Neoplasias Palpebrais/epidemiologia , Neoplasias Palpebrais/patologia , Granuloma de Células Plasmáticas/epidemiologia , Granuloma de Células Plasmáticas/patologia , Adenocarcinoma Sebáceo/epidemiologia , Adenocarcinoma Sebáceo/patologia , Adenocarcinoma Sebáceo/cirurgia , Adulto , Fatores Etários , Idoso , Biópsia por Agulha , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/patologia , Carcinoma Basocelular/cirurgia , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Distribuição de Qui-Quadrado , Bases de Dados Factuais , Doenças Palpebrais/epidemiologia , Doenças Palpebrais/patologia , Doenças Palpebrais/cirurgia , Neoplasias Palpebrais/cirurgia , Feminino , Granuloma de Células Plasmáticas/cirurgia , Hong Kong/epidemiologia , Humanos , Imuno-Histoquímica , Incidência , Masculino , Melanoma/epidemiologia , Melanoma/patologia , Melanoma/cirurgia , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Estudos Retrospectivos , Medição de Risco , Fatores Sexuais , Taxa de Sobrevida , Resultado do Tratamento
20.
Indian J Ophthalmol ; 71(12): 3684-3689, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37991304

RESUMO

PURPOSE: To examine the clinical outcomes in chronic or recurrent anterior uveitis in the presence or absence of cytomegalovirus (CMV) and investigate the predictive factors for uveitic activity and recurrence. METHODS: Polymerase chain reaction (PCR) was performed in a prospective cohort of immunocompetent adults with recurrent or chronic anterior uveitis to detect CMV in aqueous humor. The clinical outcomes were compared between eyes with and without CMV DNA. Logistic regression was performed to evaluate associations between iris depigmentation, CMV-PCR status, uveitic activity, and recurrence. RESULTS: Thirty-eight eyes of 38 subjects with a mean age of 61.1 ± 11.2 years old were analyzed. Fifteen eyes were positive for CMV. More eyes with CMV developed recurrences and remained actively inflamed at 6, 12, and 24 weeks though the differences were insignificant. The presence of iris depigmentation was predictive of a greater odd of uveitic recurrences by 12 and 24 weeks (Odds ratio (OR) = 9.17 and 5.72, P = 0.007 and 0.034 respectively), whereas positive CMV-PCR predicts a greater odd of uveitic activity at postoperative 12 and 24 weeks (OR = 13.08, 34.30; P = 0.027, 0.007). CONCLUSION: Eye with and without detectable CMV behaved similarly in their clinical course. Our findings suggested that iris depigmentation was predictive of more frequent uveitic recurrence, regardless of the PCR status, whereas the presence of CMV in aqueous humor was associated with persistent uveitic activity. Iris changes may be present during the earlier phase of the disease and precede the detection of virus from the aqueous humor at a later stage of CMV infection.


Assuntos
Infecções por Citomegalovirus , Infecções Oculares Virais , Uveíte Anterior , Idoso , Humanos , Pessoa de Meia-Idade , Humor Aquoso , Citomegalovirus/genética , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , DNA Viral/análise , Infecções Oculares Virais/diagnóstico , Iris , Estudos Prospectivos , Estudos Retrospectivos , Uveíte Anterior/diagnóstico
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