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1.
Ophthalmology ; 131(3): 266-276, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37769852

RESUMO

PURPOSE: To compare the effectiveness and safety of the MicroShunt (Santen Inc) versus trabeculectomy in patients with primary open-angle glaucoma (POAG). DESIGN: Prospective, randomized, multicenter trial conducted in the United States and Europe. PARTICIPANTS: Adult patients (aged 40-85 years) with mild to severe POAG inadequately controlled on maximum tolerated medical therapy and intraocular pressure (IOP) ≥ 15 mmHg and ≤ 40 mmHg. METHODS: Patients were randomized 3:1 to stand-alone MicroShunt implantation (n = 395) or trabeculectomy (n = 132), both augmented with mitomycin C (MMC) 0.2 mg/ml for 2 minutes. MAIN OUTCOME MEASURES: The primary effectiveness end point was surgical success, defined as ≥ 20% reduction in mean diurnal IOP from baseline with no increase in glaucoma medications. Secondary end points included changes in mean IOP and medication use from baseline and the need for postoperative interventions. RESULTS: At 2 years, the rate of surgical success was lower in the MicroShunt group than in the trabeculectomy group (50.6% vs. 64.4%, P = 0.005). Mean diurnal IOP was reduced from 21.1 ± 4.9 mmHg at baseline to 13.9 ± 3.9 mmHg at 24 months in the MicroShunt group and from 21.1 ± 5.0 mmHg at baseline to 10.7 ± 3.7 mmHg at 24 months in the trabeculectomy group (P < 0.001 compared with baseline in both groups). Mean medication use decreased from 3.1 to 0.9 in the MicroShunt group and from 2.9 to 0.4 in the trabeculectomy group (P < 0.001 compared with baseline in both groups). Adverse events at 2 years were generally similar in the 2 groups, except that hypotony was more common in eyes undergoing trabeculectomy (51.1% vs. 30.9%, P < 0.001). Repositioning or explantation of the implant occurred in 6.8% of MicroShunt patients. The majority of these patients had device removal at the time of subsequent glaucoma surgery. Vision-threatening complications were uncommon in both groups. CONCLUSION: At 2 years, both the MicroShunt and trabeculectomy provided significant reductions in IOP and medication use, with trabeculectomy continuing to have greater surgical success. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Trabeculectomia , Adulto , Humanos , Glaucoma/cirurgia , Glaucoma de Ângulo Aberto/cirurgia , Glaucoma de Ângulo Aberto/tratamento farmacológico , Pressão Intraocular , Mitomicina , Estudos Prospectivos , Trabeculectomia/métodos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais
2.
Eur J Neurol ; 31(7): e16288, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38716763

RESUMO

BACKGROUND AND PURPOSE: The eye is a well-established model of brain structure and function, yet region-specific structural correlations between the retina and the brain remain underexplored. Therefore, we aim to explore and describe the relationships between the retinal layer thicknesses and brain magnetic resonance image (MRI)-derived phenotypes in UK Biobank. METHODS: Participants with both quality-controlled optical coherence tomography (OCT) and brain MRI were included in this study. Retinal sublayer thicknesses and total macular thickness were derived from OCT scans. Brain image-derived phenotypes (IDPs) of 153 cortical and subcortical regions were processed from MRI scans. We utilized multivariable linear regression models to examine the association between retinal thickness and brain regional volumes. All analyses were corrected for multiple testing and adjusted for confounders. RESULTS: Data from 6446 participants were included in this study. We identified significant associations between volumetric brain MRI measures of subregions in the occipital lobe (intracalcarine cortex), parietal lobe (postcentral gyrus), cerebellum (lobules VI, VIIb, VIIIa, VIIIb, and IX), and deep brain structures (thalamus, hippocampus, caudate, putamen, pallidum, and accumbens) and the thickness of the innermost retinal sublayers and total macular thickness (all p < 3.3 × 10-5). We did not observe statistically significant associations between brain IDPs and the thickness of the outer retinal sublayers. CONCLUSIONS: Thinner inner and total retinal thicknesses are associated with smaller volumes of specific brain regions. Notably, these relationships extend beyond anatomically established retina-brain connections.


Assuntos
Encéfalo , Imageamento por Ressonância Magnética , Fenótipo , Retina , Tomografia de Coerência Óptica , Humanos , Masculino , Feminino , Retina/diagnóstico por imagem , Retina/anatomia & histologia , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/anatomia & histologia , Idoso , Adulto
4.
PLoS Genet ; 17(5): e1009497, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33979322

RESUMO

Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function.


Assuntos
Bancos de Espécimes Biológicos , Variação Genética , Fenótipo , Retina/metabolismo , Tomografia de Coerência Óptica , Feminino , Genótipo , Glaucoma/genética , Glaucoma/patologia , Cor de Cabelo/genética , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Controle de Qualidade , Retina/patologia , Reino Unido , Transtornos da Visão , Acuidade Visual/genética
5.
Zhonghua Bing Li Xue Za Zhi ; 53(7): 660-666, 2024 Jul 08.
Artigo em Zh | MEDLINE | ID: mdl-38955695

RESUMO

Objective: To investigate the clinical, pathological and immunophenotypic features, and differential diagnosis of angioimmunoblastic T-cell lymphoma (AITL) with B-cell proliferation or neoplasms. Methods: Eight qualified cases were collected from the Department of Pathology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China from January 2019 to July 2023. One case was diagnosed with AITL and diffuse large B-cell lymphoma (DLBCL) and the other seven cases were diagnosed with AITL and B-cell proliferation. Clinical characteristics and pathological morphology were summarized. Immunohistochemical analysis, fluorescence in situ hybridization and gene rearrangement detection were performed. Results: The patients' average age was 58 years. Five of them were male. Biopsies of the enlarged cervical lymph nodes showed structural destruction and exhibited various histologic patterns. Some cases revealed Burkitt-like morphology, a moderate tumor volume and slightly irregular nuclei. Some cases showed prominent nucleoli. High endothelial venules and expanded follicular dendritic cells were detected. Tumor cells derived from T-follicular helper (TFH) cells were positive for two or more TFH biomarkers. Nodular or diffuse patchy proliferation of B cells was noted around the tumor tissue, which was initially considered as B-cell lymphoma. All of the 8 cases showed monoclonal rearrangements of the T-cell receptor genes while 5 of them also showed clonal rearrangements of the Ig genes. Seven of the 8 cases were subject to the detection of C-MYC gene breakage and were all negative. EBV-positive cells were seen in 6 cases. Neoplastic B cells were positive for C-MYC (>40%), while proliferative B cells were negative for C-MYC (<40%). Conclusions: The histological morphology of AITL with B-cell proliferation or lymphoma may be different from AITL. An integrated analysis, incorporating clinical, morphologic, immunophenotypic, and molecular assessment, helps reach an accurate diagnosis. This group of cases demonstrated the clinical and pathological characteristics of AITL accompanied by B-cell proliferation and B-cell lymphoma. The findings suggest that C-MYC maybe a feasible indicator for distinguishing B-cell proliferation from B-cell lymphoma, and provide a simple and feasible immunohistochemical marker for the diagnosis and research of composite lymphoma.


Assuntos
Linfócitos B , Proliferação de Células , Linfadenopatia Imunoblástica , Linfoma Difuso de Grandes Células B , Humanos , Masculino , Pessoa de Meia-Idade , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/genética , Linfadenopatia Imunoblástica/patologia , Linfadenopatia Imunoblástica/genética , Linfócitos B/patologia , Diagnóstico Diferencial , Linfoma de Células T/patologia , Linfoma de Células T/genética , Linfonodos/patologia , Feminino , Hibridização in Situ Fluorescente , Proteínas Proto-Oncogênicas c-myc/genética , Proteínas Proto-Oncogênicas c-myc/metabolismo , Idoso , Linfoma de Células B/patologia , Linfoma de Células B/genética
6.
PLoS Genet ; 16(4): e1008721, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32339198

RESUMO

Current estimates suggest 50% of glaucoma blindness worldwide is caused by primary angle-closure glaucoma (PACG) but the causative gene is not known. We used genetic linkage and whole genome sequencing to identify Spermatogenesis Associated Protein 13, SPATA13 (NM_001166271; NP_001159743, SPATA13 isoform I), also known as ASEF2 (Adenomatous polyposis coli-stimulated guanine nucleotide exchange factor 2), as the causal gene for PACG in a large seven-generation white British family showing variable expression and incomplete penetrance. The 9 bp deletion, c.1432_1440del; p.478_480del was present in all affected individuals with angle-closure disease. We show ubiquitous expression of this transcript in cell lines derived from human tissues and in iris, retina, retinal pigment and ciliary epithelia, cornea and lens. We also identified eight additional mutations in SPATA13 in a cohort of 189 unrelated PACS/PAC/PACG samples. This gene encodes a 1277 residue protein which localises to the nucleus with partial co-localisation with nuclear speckles. In cells undergoing mitosis SPATA13 isoform I becomes part of the kinetochore complex co-localising with two kinetochore markers, polo like kinase 1 (PLK-1) and centrosome-associated protein E (CENP-E). The 9 bp deletion reported in this study increases the RAC1-dependent guanine nucleotide exchange factors (GEF) activity. The increase in GEF activity was also observed in three other variants identified in this study. Taken together, our data suggest that SPATA13 is involved in the regulation of mitosis and the mutations dysregulate GEF activity affecting homeostasis in tissues where it is highly expressed, influencing PACG pathogenesis.


Assuntos
Glaucoma de Ângulo Aberto/genética , Fatores de Troca do Nucleotídeo Guanina/genética , Mutação , Adolescente , Adulto , Idoso , Divisão Celular , Núcleo Celular/metabolismo , Olho/metabolismo , Feminino , Glaucoma de Ângulo Aberto/patologia , Fatores de Troca do Nucleotídeo Guanina/química , Fatores de Troca do Nucleotídeo Guanina/metabolismo , Humanos , Cinetocoros/metabolismo , Masculino , Pessoa de Meia-Idade , Linhagem , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Transporte Proteico
7.
Ophthalmology ; 129(8): 841-855, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35331751

RESUMO

TOPIC: Corneal endothelial cell density (ECD) loss after glaucoma surgery with or without cataract surgery. CLINICAL RELEVANCE: Corneal ECD loss may occur as the result of intraoperative surgical trauma in glaucoma surgery or postoperatively with chronic endothelial cell trauma or irritation. METHODS: Glaucoma filtration surgery or microinvasive glaucoma surgery (MIGS) in participants with ocular hypertension, primary and secondary open-angle glaucoma, normal-tension glaucoma, and angle-closure glaucoma were included. Electronic databases searched in December 2021 included MEDLINE, Embase, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, the International Prospective Register of Systematic Reviews, Food and Drug Administration (FDA) Premarket Approval, and FDA 510(k). RESULTS: A total of 39 studies were included in quantitative synthesis. Twelve months after suprachoroidal MIGS, mean ECD loss was 282 cells/mm2 (95% confidence interval [CI], 220-345; P < 0.00001; chi-square = 0.06; I2 = 0%; 2 studies; very low certainty). Mean ECD loss after Schlemm's canal implantable devices was 338 cells/mm2 (95% CI, 185-491; P < 0.0001; chi-square = 0.08; I2 = 0%; 2 studies; low certainty) at 12 months. Mean ECD loss was 64 cells/mm2 (95% CI, 21-107; P = 0.004; chi-square = 4.55; I2 = 0%; 6 studies; low certainty) after Schlemm's canal procedures (without implantable devices) at 12 months. At 12 months, the mean ECD loss after trabeculectomy was 33 cells/mm2 (95% CI, -38 to 105, P = 0.36, chi-square = 1.17; I2 = 0%; moderate certainty). At 12 months, mean ECD loss was 121 cells/mm2 (95% CI, 53-189; P = 0.0005; chi-square = 3.00; I2 = 0%; 5 studies; low certainty) after Express (Alcon) implantation. When compared with the control fellow eye, aqueous shunt surgery reduced ECD by 5.75% (95% CI, -0.93 to 12.43; P = 0.09, chi-square = 1.32; I2 = 0%; low certainty) and 8.11% ECD loss (95% CI, 0.06-16.16 P = 0.05; chi-square = 1.93; I2 = 48%) at 12 and 24 months, respectively. CONCLUSIONS: Overall, there is low certainty evidence to suggest that glaucoma surgery involving long-term implants has a greater extent of ECD loss than glaucoma filtration surgeries without the use of implants. The results of this review support follow-up beyond 36 months to assess ECD loss and corneal decompensation after implantation of glaucoma drainage implants.


Assuntos
Catarata , Implantes para Drenagem de Glaucoma , Glaucoma de Ângulo Aberto , Glaucoma , Catarata/complicações , Perda de Células Endoteliais da Córnea/diagnóstico , Perda de Células Endoteliais da Córnea/etiologia , Células Endoteliais , Glaucoma/cirurgia , Implantes para Drenagem de Glaucoma/efeitos adversos , Glaucoma de Ângulo Aberto/complicações , Glaucoma de Ângulo Aberto/cirurgia , Humanos
8.
Brain ; 144(1): 224-235, 2021 02 12.
Artigo em Inglês | MEDLINE | ID: mdl-33253371

RESUMO

The diagnosis of multiple sclerosis is based on a combination of clinical and paraclinical tests. The potential contribution of retinal optical coherence tomography (OCT) has been recognized. We tested the feasibility of OCT measures of retinal asymmetry as a diagnostic test for multiple sclerosis at the community level. In this community-based study of 72 120 subjects, we examined the diagnostic potential of the inter-eye difference of inner retinal OCT data for multiple sclerosis using the UK Biobank data collected at 22 sites between 2007 and 2010. OCT reporting and quality control guidelines were followed. The inter-eye percentage difference (IEPD) and inter-eye absolute difference (IEAD) were calculated for the macular retinal nerve fibre layer (RNFL), ganglion cell inner plexiform layer (GCIPL) complex and ganglion cell complex. Area under the receiver operating characteristic curve (AUROC) comparisons were followed by univariate and multivariable comparisons accounting for a large range of diseases and co-morbidities. Cut-off levels were optimized by ROC and the Youden index. The prevalence of multiple sclerosis was 0.0023 [95% confidence interval (CI) 0.00229-0.00231]. Overall the discriminatory power of diagnosing multiple sclerosis with the IEPD AUROC curve (0.71, 95% CI 0.67-0.76) and IEAD (0.71, 95% CI 0.67-0.75) for the macular GCIPL complex were significantly higher if compared to the macular ganglion cell complex IEPD AUROC curve (0.64, 95% CI 0.59-0.69, P = 0.0017); IEAD AUROC curve (0.63, 95% CI 0.58-0.68, P < 0.0001) and macular RNFL IEPD AUROC curve (0.59, 95% CI 0.54-0.63, P < 0.0001); IEAD AUROC curve (0.55, 95% CI 0.50-0.59, P < 0.0001). Screening sensitivity levels for the macular GCIPL complex IEPD (4% cut-off) were 51.7% and for the IEAD (4 µm cut-off) 43.5%. Specificity levels were 82.8% and 86.8%, respectively. The number of co-morbidities was important. There was a stepwise decrease of the AUROC curve from 0.72 in control subjects to 0.66 in more than nine co-morbidities or presence of neuromyelitis optica spectrum disease. In the multivariable analyses greater age, diabetes mellitus, other eye disease and a non-white ethnic background were relevant confounders. For most interactions, the effect sizes were large (partial ω2 > 0.14) with narrow confidence intervals. In conclusion, the OCT macular GCIPL complex IEPD and IEAD may be considered as supportive measurements for multiple sclerosis diagnostic criteria in a young patient without relevant co-morbidity. The metric does not allow separation of multiple sclerosis from neuromyelitis optica. Retinal OCT imaging is accurate, rapid, non-invasive, widely available and may therefore help to reduce need for invasive and more costly procedures. To be viable, higher sensitivity and specificity levels are needed.


Assuntos
Esclerose Múltipla/diagnóstico por imagem , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Retina/patologia , Sensibilidade e Especificidade
9.
Hum Mol Genet ; 28(21): 3680-3690, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31809533

RESUMO

Optic nerve head morphology is affected by several retinal diseases. We measured the vertical optic disc diameter (DD) of the UK Biobank (UKBB) cohort (N = 67 040) and performed the largest genome-wide association study (GWAS) of DD to date. We identified 81 loci (66 novel) for vertical DD. We then replicated the novel loci in International Glaucoma Genetic Consortium (IGGC, N = 22 504) and European Prospective Investigation into Cancer-Norfolk (N = 6005); in general the concordance in effect sizes was very high (correlation in effect size estimates 0.90): 44 of the 66 novel loci were significant at P < 0.05, with 19 remaining significant after Bonferroni correction. We identified another 26 novel loci in the meta-analysis of UKBB and IGGC data. Gene-based analyses identified an additional 57 genes. Human ocular tissue gene expression analysis showed that most of the identified genes are enriched in optic nerve head tissue. Some of the identified loci exhibited pleiotropic effects with vertical cup-to-disc ratio, intraocular pressure, glaucoma and myopia. These results can enhance our understanding of the genetics of optic disc morphology and shed light on the genetic findings for other ophthalmic disorders such as glaucoma and other optic nerve diseases.


Assuntos
Estudo de Associação Genômica Ampla , Glaucoma/genética , Disco Óptico/anatomia & histologia , Adulto , Idoso , Bases de Dados Factuais , Feminino , Expressão Gênica , Glaucoma/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Disco Óptico/metabolismo , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos
10.
Ophthalmology ; 128(6): 837-847, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33571551

RESUMO

PURPOSE: To examine the association of alcohol consumption and type of alcoholic beverage with incident cataract surgery in 2 large cohorts. DESIGN: Longitudinal, observational study. PARTICIPANTS: We included 469 387 participants of UK Biobank with a mean age of 56 years and 23 162 participants of European Prospective Investigation of Cancer (EPIC)-Norfolk with a mean age of 59 years. METHODS: Self-reported alcohol consumption at baseline was ascertained by a touchscreen questionnaire in UK Biobank and a food-frequency questionnaire in EPIC-Norfolk. Cases were defined as participants undergoing cataract surgery in either eye as ascertained via data linkage to National Health Service procedure statistics. We excluded participants with cataract surgery up to 1 year after the baseline assessment visit or those with self-reported cataract at baseline. Cox proportional hazards models were used to examine the associations of alcohol consumption with incident cataract surgery, adjusted for age, sex, ethnicity, Townsend deprivation index, body mass index (BMI), smoking, and diabetes status. MAIN OUTCOME MEASURES: Incident cataract surgery. RESULTS: There were 19 011 (mean cohort follow-up of 95 months) and 4573 (mean cohort follow-up of 193 months) incident cases of cataract surgery in UK Biobank and EPIC-Norfolk, respectively. Compared with nondrinkers, drinkers were less likely to undergo cataract surgery in UK Biobank (hazard ratio [HR], 0.89; 95% confidence interval [CI], 0.85-0.93) and EPIC-Norfolk (HR, 0.90; 95% CI, 0.84-0.97) after adjusting for covariables. Among alcohol consumers, greater alcohol consumption was associated with a reduced risk of undergoing cataract surgery in EPIC-Norfolk (P < 0.001), whereas a U-shaped association was observed in the UK Biobank. Compared with nondrinkers, subgroup analysis by type of alcohol beverage showed the strongest protective association with wine consumption; the risk of incident cataract surgery was 23% and 14% lower among those in the highest category of wine consumption in EPIC-Norfolk and UK Biobank, respectively. CONCLUSIONS: Our findings suggest a lower risk of undergoing cataract surgery with low to moderate alcohol consumption. The association was particularly apparent with wine consumption. We cannot exclude the possibility of residual confounding, and further studies are required to determine whether this association is causal in nature.


Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Catarata/complicações , Complicações Pós-Operatórias/epidemiologia , Autorrelato , Consumo de Bebidas Alcoólicas/epidemiologia , Catarata/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Fatores de Risco , Reino Unido/epidemiologia
11.
Eur J Neurol ; 28(5): 1490-1498, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33369822

RESUMO

BACKGROUND AND PURPOSE: Current methods to diagnose neurodegenerative diseases are costly and invasive. Retinal neuroanatomy may be a biomarker for more neurodegenerative processes and can be quantified in vivo using optical coherence tomography (OCT), which is inexpensive and noninvasive. We examined the association of neuroretinal morphology with brain MRI image-derived phenotypes (IDPs) in a large cohort of healthy older people. METHODS: UK Biobank participants aged 40 to 69 years old underwent comprehensive examinations including ophthalmic and brain imaging assessments. Macular retinal nerve fibre layer (mRNFL), macular ganglion cell-inner plexiform layer (mGCIPL), macular ganglion cell complex (mGCC) and total macular thicknesses were obtained from OCT. Magnetic resonance imaging (MRI) IDPs assessed included total brain, grey matter, white matter and hippocampal volume. Multivariable linear regression models were used to evaluate associations between retinal layers thickness and brain MRI IDPs, adjusting for demographic factors and vascular risk factors. RESULTS: A total of 2131 participants (mean age 55 years; 51% women) with both gradable OCT images and brain imaging assessments were included. In multivariable regression analysis, thinner mGCIPL, mGCC and total macular thickness were all significantly associated with smaller total brain (p < 0.001), grey matter and white matter volume (p < 0.01), and grey matter volume in the occipital pole (p < 0.05). Thinner mGCC and total macular thicknesses were associated with smaller hippocampal volume (p < 0.02). No association was found between mRNFL and the MRI IDPs. CONCLUSIONS: Markers of retinal neurodegeneration are associated with smaller brain volumes. Our findings suggest that retinal structure may be a biomarker providing information about important brain structure in healthy older adults.


Assuntos
Bancos de Espécimes Biológicos , Células Ganglionares da Retina , Adulto , Idoso , Encéfalo/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica , Reino Unido
12.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(5): 640-645, 2021 May 06.
Artigo em Zh | MEDLINE | ID: mdl-34034405

RESUMO

Objective: To analyze the trend of mortality and incidence of colorectal cancer among urban residents in Guangzhou from 1972 to 2015 and to predict the mortality of colorectal cancer from 2016 to 2025. Methods: The mortality data of colorectal cancer among urban residents in Guangzhou were collected from the death registration of malignant tumors of Guangzhou Health Statistics Bureau (1972-1979), Guangzhou Health Statistics (1980-2001), Guangzhou Cancer Registration Annual Report (2002-2009) and China Cancer Registration Annual Report (2010-2015). The incidence of colorectal cancer was collected from Guangzhou Cancer Registration Annual Report (2002-2009) and China Cancer Registration Annual Report (2010-2015). The incidence and mortality data of colorectal cancer coded as C18-C21 in 10th Edition of International Classification of Diseases (ICD-10) were obtained from the above data, and the demographic data were from the Guangzhou Municipal Bureau of Statistics. Joinpoint model was used to calculate the annual change percentage (APC) and average annual change percentage (AAPC) of colorectal cancer mortality and incidence among urban residents in Guangzhou from 1972 to 2015 and from 2002 to 2015. ARIMA model was used to predict colorectal cancer mortality from 2016 to 2025. Results: There were 19 309 colorectal cancer deaths among urban residents in Guangzhou from 1972 to 2015. The crude mortality rate of colorectal cancer increased from 4.33/100 000 to 24.89/100 000 (AAPC=4.2%, P<0.001). A total of 24 033 new cases of colorectal cancer were reported in Guangzhou from 2002 to 2015. The crude incidence rate of colorectal cancer increased from 22.95/100 000 to 52.81/100 000 (AAPC=6.6%, P<0.001). The mortality rate of colorectal cancer among urban residents of Guangzhou would continuously increase from 2016 to 2025 and reach 29.53/100 000 in 2025. Conclusion: The mortality rate of colorectal cancer among urban residents of Guangzhou from 1972 to 2015 and the incidence rate of colorectal cancer from 2002 to 2015 both show an upward trend. The mortality rate will increase from 2016 to 2025.


Assuntos
Neoplasias Colorretais , População Rural , China/epidemiologia , Neoplasias Colorretais/epidemiologia , Humanos , Incidência , Morbidade , População Urbana
13.
Zhonghua Gan Zang Bing Za Zhi ; 29(2): 172-174, 2021 Feb 20.
Artigo em Zh | MEDLINE | ID: mdl-33685088

RESUMO

Caroli's disease is a rare congenital disease characterized by non-obstructive dilatation of the intrahepatic bile ducts, with a prevalence of one in a million in the general population[1]. Most of it is considered to be an autosomal recessive genetic disease, but in many cases, the typical genetic family history cannot be traced back. There are two forms of Caroli's disease: simple type (commonly called Caroli disease) and Caroli syndrome (characterized by congenital liver fibrosis and/or polycystic kidney disease). PKHD1 gene is considered to be the causative gene of Caroli's disease, congenital liver fibrosis and/or polycystic kidney disease [2]. Here, we introduce a case of Caroli's disease confirmed by pathology, atypical symptoms and images in our hospital.


Assuntos
Doença de Caroli , Doenças Renais Policísticas , Ductos Biliares Intra-Hepáticos/patologia , Doença de Caroli/genética , Humanos , Cirrose Hepática/patologia , Doenças Renais Policísticas/patologia
14.
Ophthalmology ; 127(1): 62-71, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31585827

RESUMO

PURPOSE: To describe and compare associations with macular retinal nerve fiber layer (mRNFL), ganglion cell complex (GCC), and ganglion cell-inner plexiform layer (GCIPL) thicknesses in a large cohort. DESIGN: Cross-sectional study. PARTICIPANTS: We included 42 044 participants in the UK Biobank. The mean age was 56 years. METHODS: Spectral-domain OCT macular images were segmented and analyzed. Corneal-compensated intraocular pressure (IOPcc) was measured with the Ocular Response Analyzer (Reichert, Corp., Buffalo, NY). Multivariable linear regression was used to examine associations with mean mRNFL, GCC, and GCIPL thicknesses. Factors examined were age, sex, ethnicity, height, body mass index (BMI), smoking status, alcohol intake, Townsend deprivation index, education level, diabetes status, spherical equivalent, and IOPcc. MAIN OUTCOME MEASURES: Thicknesses of mRNFL, GCC, and GCIPL. RESULTS: We identified several novel independent associations with thinner inner retinal thickness. Thinner inner retina was associated with alcohol intake (most significant for GCIPL: -0.46 µm for daily or almost daily intake compared with special occasion only or never [95% confidence interval (CI), 0.61-0.30]; P = 1.1×10-8), greater social deprivation (most significant for GCIPL: -0.28 µm for most deprived quartile compared with least deprived quartile [95% CI, -0.42 to -0.14]; P = 6.6×10-5), lower educational attainment (most significant for mRNFL: -0.36 µm for less than O level compared with degree level [95% CI, -0.45 to 0.26]; P = 2.3×10-14), and nonwhite ethnicity (most significant for mRNFL comparing blacks with whites: -1.65 µm [95% CI, -1.86 to -1.43]; P = 2.4×10-50). Corneal-compensated intraocular pressure was associated most significantly with GCIPL (-0.04 µm/mmHg [95% CI, -0.05 to -0.03]; P = 4.0×10-10) and was not associated significantly with mRNFL (0.00 µm/mmHg [95% CI, -0.01 to 0.01]; P = 0.77). The variables examined explained a greater proportion of the variance of GCIPL (11%) than GCC (6%) or mRNFL (7%). CONCLUSIONS: The novel associations we identified may be important to consider when using inner retinal parameters as a diagnostic tool. Associations generally were strongest with GCIPL, particularly for IOP. This suggests that GCIPL may be the superior inner retinal biomarker for macular pathophysiologic processes and especially for glaucoma.


Assuntos
Fibras Nervosas/fisiologia , Células Ganglionares da Retina/fisiologia , Adulto , Fatores Etários , Idoso , Área Sob a Curva , Bancos de Espécimes Biológicos , Constituição Corporal , Índice de Massa Corporal , Estudos de Coortes , Estudos Transversais , Etnicidade , Feminino , Humanos , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Curva ROC , Fatores Sexuais , Tomografia de Coerência Óptica , Reino Unido
15.
Exp Eye Res ; 197: 108120, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32565112

RESUMO

Galectins are carbohydrate binding proteins with high affinity to ß-galactoside containing glycoconjugates. Understanding of the functions of galectins has grown steadily over the past decade, as a result of substantial advancements in the field of glycobiology. Galectins have been shown to be versatile molecules that participate in a range of important biological systems, including inflammation, neovascularisation and fibrosis. These processes are of particular importance in ocular tissues, where a major theme of recent research has been to divert diseases away from pathways which result in loss of function into pathways of repair and regeneration. This review summarises our current understanding of galectins in the context important ocular diseases, followed by an update on current clinical studies and future directions.


Assuntos
Oftalmopatias/metabolismo , Galectinas/metabolismo , Animais , Humanos , Transdução de Sinais
16.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(2): 302-307, 2020 Apr 18.
Artigo em Zh | MEDLINE | ID: mdl-32306015

RESUMO

OBJECTIVE: To analyze how governments, hospitals and information technology(IT) companies use Internet technology to provide online health services during the early stage of corona virus disease 2019 (COVID-19) epidemic in January 2020 in China, and then provide suggestions and coping strategies for the later stage and post-epidemic time. METHODS: We searched for information on ehealth services related to the outbreak of COVID-19 in China. The sources of information were mainstream search engines such as Baidu and the popular interactive social platforms such as Webchat. The keywords were "Internet+pneumonia", "Internet clinic", "pneumonia online clinic" and so on. The time of information was from January 20 to February 3, 2020. The key information was extracted and encoded by two persons back-to-back. The coding information included: name of organization provider, launching time, location of provider, service items, user, health workers engaging in the service, and so on. The coded information was entered and analyzed with SPSS 24.0 and Excel. RESULTS: There were totally 57 projects launched by local governments, hospitals and IT companies. Most of them were launched from January 24th to 27th, the hospital and government projects services regionally, especially in eastern provinces. In this study, 90.48% of the enterprises and 100.00% of the hospitals had online fever clinic and consultation services for COVID-19, 66.67% of the enterprises and 37.04% of the hospitals serviced derivative health problems. Only a few projects provided tele-medical consultation. There were individual projects that provided online health management for home quarantine people. Physicians were the main force of various projects. In some hospital projects, there were also nurses, pharmacists and professional technicians to provide featured consultation. CONCLUSION: Ehealth is useful and helpful for the health care system to rapidly cope with health demand during instantaneous and post epidemic time. Regional distribution of ehealth is unbalanced. There are institutional and technical feasibilities for the emergency application of Internet technology. However, community health centers seldom provide ehealth or connect with tertiary hospitals with Internet. Therefore, all kinds of providers within healthcare system should promote emergence ehealth. Tele-medical diagnosis and referral should be developed by local governments during COVID-19. The application of "Internet+medical treatment" in community medical institutions and synergy among various institutions should be promoted.


Assuntos
Betacoronavirus , Infecções por Coronavirus , Pandemias , Pneumonia Viral , Telemedicina , COVID-19 , China , Humanos , SARS-CoV-2
17.
Zhonghua Yi Xue Za Zhi ; 100(25): 1947-1951, 2020 Jul 07.
Artigo em Zh | MEDLINE | ID: mdl-32629594

RESUMO

Objective: To analyze the differences of clinical characteristics and outcomes between relapsing and monophasic patients with anti-leucine-rich glioma-inactivated 1 (anti-LGI1) encephalitis. Methods: Medical records of confirmed anti-LGI1 encephalitic patients who underwent immunotherapy were retrospectively collected from January 2015 to January 2019 in the first affiliated hospital of Zhengzhou University. Clinical data, treatment methods, duration of treatment and outcomes were analyzed between the relapsing and monophasic groups. Results: Among the 33 anti-LGI1 encephalitic patients, there were 12 and 21 cases in the relapsing and monophasic groups, respectively. No difference was found in age, sex, precipitating factors, intensive care unit (ICU) admission, symptoms and modified Rankin Scale (mRS) score in the acute phase (P>0.05). As to the lab test and image examination, no statistic difference was found in serum and cerebral spinal fluid (CSF) positive rate, hyponatremia, abnormal rate of electrocardiogram (ECG), electroencephalogram (EEG), CSF and magnetic resonance imaging (MRI) and lesion locations (P>0.05). No difference was found in time to diagnose the disease between the 2 groups (P>0.05). The median immunotherapy period was 102.5 days in relapsing group and 194.0 days in monophasic group, with a statistic difference (P=0.001). No patients had bad outcomes in the monophasic group at the last follow-up, while 6 patients had poor outcomes in the relapsing group (4 patients died). The patients in relapsing group had a worse prognosis compared to those in the monophasic group (P=0.007). Conclusions: Relapse is common in anti-LGI1 encephalitis. Patients in the relapsing group received a shorter term of immunotherapy and had worse outcomes than those in the monophasic group.


Assuntos
Encefalite , Glioma , Autoanticorpos , Humanos , Leucina , Recidiva Local de Neoplasia , Estudos Retrospectivos
18.
Zhonghua Wai Ke Za Zhi ; 58(5): 326-330, 2020 May 01.
Artigo em Zh | MEDLINE | ID: mdl-32107909

RESUMO

Objective: To explore the proper protective measures for pancreatic diseases treatment during the outbreak of 2019 coronavirus disease(COVID-19). Methods: Clinical data of four cases of patients that suffered COVID-19 from February 2(nd) to February 9(th), 2020 at Department of Pancreatic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology were reviewed induding 4 males and 1 female, aging of 50, 51, 46, 87 years old, respectively. After the first patients cuffed nosocomial infection of COVID-19, the general protective measures were updated.Only one patient was admitted to each room alone, with no more than one caregiver. The body temperature of care givers was measured twice a day.Primary protections were applied to all staff.The floor was sterilized using disinfectant with an effective chlorine concentration of 1 000 mg/L. The protective measures for interventional procedures were as follow. Primary protection was applied to the operators of central venipuncture catheter, percutaneous abdominal/pleural drainage, percutaneous retroperitoneal drainage, percutaneous transhepatic cholangial drainage and other surgical procedures with local anesthesia and epidural anesthesia. Secondary protection was applied to the operators of endoscopic retrograde cholangiopancreatography and surgical procedures with general anesthesia. Results: There were four patients who were diagnosed as COVID-19, of which one died of COVID-19, two were cured, and one was still in hospital for COVID-19. After the update of protective measures, no more nosocomial infection of COVID-19 occurred. Two central venipuncture catheter, three percutaneous abdominal or pleural drainage, one percutaneous retroperitoneal drainage, one percuteneous transhepatic cholecyst drainage and one open surgery with general anesthesia were performed with no infection of operators. Conclusions: The caregivers of patients are potential infection source of COVID-19. Enhanced protective measures including the management measures of caregivers can decrease the risk of nosocomial infection of COVID-19.


Assuntos
Infecções por Coronavirus , Controle de Infecções/métodos , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Pancreatopatias , Pandemias , Pneumonia Viral , Idoso de 80 Anos ou mais , Betacoronavirus , COVID-19 , Cateterismo , Colangiopancreatografia Retrógrada Endoscópica , Coronavirus , Infecções por Coronavirus/complicações , Surtos de Doenças , Drenagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pancreatopatias/complicações , Pancreatopatias/terapia , Flebotomia , Pneumonia Viral/complicações , SARS-CoV-2
19.
Ophthalmology ; 126(2): 233-241, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30172708

RESUMO

PURPOSE: To compare Schlemm canal (SC) and trabecular meshwork (TM) in children with healthy eyes and those with and without glaucoma after lensectomy. DESIGN: Cross-sectional observational study. PARTICIPANTS: Fifty children 4 to 16 years of age with healthy eyes and 48 children who underwent lensectomy (124 healthy and 72 postlensectomy eyes). METHODS: Anterior segment (AS) OCT (Tomey SS-1000 CASIA; Tomey, Nagoya, Japan) of the nasal iridocorneal angle at 2 levels of accommodative effort (2.5 diopters [D] and 15 D). For each parameter and state of accommodation, a random effects model was fitted to estimate differences between healthy eyes and eyes with history of lensectomy. MAIN OUTCOME MEASURES: Dimensions of SC and TM and conventional AS OCT iridocorneal angle measurements. RESULTS: The horizontal diameter of SC and its cross-sectional area (CSA) are significantly smaller in eyes that have undergone lensectomy versus healthy eyes. Accommodative effort increases SC size in healthy eyes, but not in eyes that have undergone lensectomy. CONCLUSIONS: Lensectomy is associated with a reduction in SC size and a loss of physiologic SC dilatation during accommodative effort, which may reflect a reduction in outflow facility and may contribute to the development of glaucoma after lensectomy.


Assuntos
Extração de Catarata/efeitos adversos , Glaucoma/etiologia , Limbo da Córnea/fisiopatologia , Malha Trabecular/fisiopatologia , Acomodação Ocular/fisiologia , Adolescente , Segmento Anterior do Olho/diagnóstico por imagem , Fenômenos Biomecânicos , Criança , Pré-Escolar , Estudos Transversais , Feminino , Glaucoma/fisiopatologia , Humanos , Implante de Lente Intraocular , Masculino , Pseudofacia/fisiopatologia , Tomografia de Coerência Óptica/métodos
20.
Ophthalmology ; 126(6): 888-907, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30653986

RESUMO

PURPOSE: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort with malformations of the globe, anterior segment anomalies, childhood glaucoma, or a combination thereof. DESIGN: Evaluation of diagnostic test. PARTICIPANTS: Two hundred seventy-seven children, 0 to 16 years of age, diagnosed with nonsyndromic or syndromic developmental eye defects without a genetic diagnosis. METHODS: We developed a new oculome panel using a custom-designed Agilent SureSelect QXT target capture method (Agilent Technologies, Santa Clara, CA) to capture and perform parallel high-throughput sequencing analysis of 429 genes associated with eye disorders. Bidirectional Sanger sequencing confirmed suspected pathogenic variants. MAIN OUTCOME MEASURES: Collated clinical details and oculome molecular genetic results. RESULTS: The oculome design covers 429 known eye disease genes; these are subdivided into 5 overlapping virtual subpanels for anterior segment developmental anomalies including glaucoma (ASDA; 59 genes), microphthalmia-anophthalmia-coloboma (MAC; 86 genes), congenital cataracts and lens-associated conditions (70 genes), retinal dystrophies (RET; 235 genes), and albinism (15 genes), as well as additional genes implicated in optic atrophy and complex strabismus (10 genes). Panel development and testing included analyzing 277 clinical samples and 3 positive control samples using Illumina sequencing platforms; more than 30× read depth was achieved for 99.5% of the targeted 1.77-Mb region. Bioinformatics analysis performed using a pipeline based on Freebayes and ExomeDepth to identify coding sequence and copy number variants, respectively, resulted in a definitive diagnosis in 68 of 277 samples, with variability in diagnostic yield between phenotypic subgroups: MAC, 8.2% (8 of 98 cases solved); ASDA, 24.8% (28 of 113 cases solved); other or syndromic, 37.5% (3 of 8 cases solved); RET, 42.8% (21 of 49 cases solved); and congenital cataracts and lens-associated conditions, 88.9% (8 of 9 cases solved). CONCLUSIONS: The oculome test diagnoses a comprehensive range of genetic conditions affecting the development of the eye, potentially replacing protracted and costly multidisciplinary assessments and allowing for faster targeted management. The oculome enabled molecular diagnosis of a significant number of cases in our sample cohort of varied ocular birth defects.


Assuntos
Variações do Número de Cópias de DNA/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Técnicas de Diagnóstico Molecular , Mutação/genética , Proteoma/genética , Adolescente , Criança , Pré-Escolar , Feminino , Genoma Humano , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem
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