RESUMEN
Next-generation DNA sequencing (NGS) in short-read mode has recently been used for genetic testing in various clinical settings. NGS data accuracy is crucial in clinical settings, and several reports regarding quality control of NGS data, primarily focusing on establishing NGS sequence read accuracy, have been published thus far. Variant calling is another critical source of NGS errors that remains unexplored at the single-nucleotide level despite its established significance. In this study, we used a machine-learning-based method to establish an exome-wide benchmark of difficult-to-sequence regions at the nucleotide-residue resolution using 10 genome sequence features based on real-world NGS data accumulated in The Genome Aggregation Database (gnomAD) of the human reference genome sequence (GRCh38/hg38). The newly acquired metric, designated the 'UNMET score,' along with additional lines of structural information from the human genome, allowed us to assess the sequencing challenges within the exonic region of interest using conventional short-read NGS. Thus, the UNMET score could provide a basis for addressing potential sequential errors in protein-coding exons of the human reference genome sequence GRCh38/hg38 in clinical sequencing.
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Exoma , Secuenciación de Nucleótidos de Alto Rendimiento , Análisis de Secuencia de ADN , Humanos , ADN , Exoma/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/normas , Análisis de Secuencia de ADN/métodos , Análisis de Secuencia de ADN/normasRESUMEN
PURPOSE: To report on macular hole repair in macular telangiectasia type 2 (MacTel2). DESIGN: Global, multicenter, retrospective case series. PARTICIPANTS: Patients undergoing surgery for MacTel2-associated full-thickness macular hole (MTMH). METHODS: Standardized data collection sheet distributed to all surgeons. MAIN OUTCOME MEASURES: Anatomic closure and visual outcomes of MTMH. RESULTS: Sixty-three surgeries in 47 patients with MTMH were included from 30 surgeons. Mean age was 68.1 years, with 62% female, 72% White, 21% East or South Asian, 2% African American, and 2% Hispanic or Latino. Procedures included 34 internal limiting membrane (ILM) peeling alone, 22 ILM flaps, 5 autologous retinal transplantations (ARTs), 1 retinotomy, and 1 subretinal bleb. For ILM peeling, preoperative visual acuity (VA) was 0.667 ± 0.423 logarithm of the minimum angle of resolution (logMAR). Minimum hole diameter (MHD) was 305.5 ± 159.4 µm (range, 34-573 µm). Sixteen of 34 ILM peels (47%) resulted in MTMH closure. At postoperative month 6, VA was stable at 0.602 ± 0.516 logMAR (P = 0.65). VA improved by at least 2 lines in 43% and at least 4 lines in 24%. For ILM flaps, preoperative VA was 0.878 ± 0.552 logMAR. MHD was 440.8 ± 175.5 µm (range, 97-697 µm), which was significantly larger than for ILM peels (P < 0.01). Twenty of 22 ILM flaps (90%) resulted in MTMH closure, which was significantly higher than for ILM peels (P < 0.01). At postoperative month 6, VA improved to 0.555 ± 0.405 logMAR (P < 0.05). VA improved by at least 2 lines in 56% and at least 4 lines in 28%. For ARTs, preoperative VA was 1.460 ± 0.391 logMAR. MHD was 390.2 ± 203.7 µm (range, 132-687 µm). All 5 ARTs (100%) resulted in MTMH closure. At postoperative month 6, VA was stable at 1.000 ± 0.246 logMAR (P = 0.08). Visual acuity improved at least 2 lines in 25%. CONCLUSIONS: Surgical closure of macular holes improved VA in 57% of MTMHs. Internal limiting membrane flaps achieved better anatomic and functional outcomes than ILM peeling alone. Autologous retinal transplantation may be an option for refractory MTMHs. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Membrana Epirretinal , Perforaciones de la Retina , Telangiectasia Retiniana , Humanos , Femenino , Anciano , Masculino , Vitrectomía/métodos , Estudios Retrospectivos , Retina , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/cirugía , Telangiectasia Retiniana/complicaciones , Membrana Basal/cirugía , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Membrana Epirretinal/cirugíaRESUMEN
PURPOSE: To assess epiretinal membrane (ERM) formation, severity, and the associated risk factors after scleral buckling using en face optical coherence tomography (OCT) images. METHODS: Medical records of 61 consecutive patients (66 eyes) with rhegmatogenous retinal detachment who underwent scleral buckling were retrospectively reviewed. Posterior vitreous detachment (PVD) was determined based on B-scan OCT images. En face OCT images were used to visualize the ERM and retinal folds. ERM formation was identified by comparing en face images pre- and post-surgery. The maximum depth of the retinal folds (MDRF) was measured using en face imaging to objectively assess traction strength. RESULTS: ERM formation occurred in 15 (22.7%) eyes at the final visit; the foveal pit was preserved in all cases. Parafoveal retinal folds were present in 5 (7.6%) eyes, with a mean MDRF of 21.8 ± 12.6 µm. No significant difference was observed in best-corrected visual acuity (logarithm of the minimal angle of resolution) between the ERM formation (-0.019 ± 0.128) and non-ERM formation (-0.001 ± 0.213) groups at the final visit (P = 0.593; Mann-Whitney U test). Multivariate logistic regression analysis revealed that older age and the presence of PVD were significant risk factors for ERM formation (odds ratio 1.07, 95% confidence interval 1.01-1.14, P = 0.032; odds ratio 5.26, 95% confidence interval 1.06-26.10, P = 0.042; respectively). CONCLUSION: ERM occurred in 22.7% of cases but was mild and did not affect visual acuity. Older age and the presence of PVD are risk factors for ERM formation.
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Membrana Epirretinal , Desprendimiento de Retina , Desprendimiento del Vítreo , Humanos , Curvatura de la Esclerótica , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/etiología , Membrana Epirretinal/cirugía , Tomografía de Coherencia Óptica/métodos , Estudios Retrospectivos , Desprendimiento del Vítreo/cirugía , Vitrectomía/efectos adversosRESUMEN
PURPOSE: To investigate the influence of submacular hemorrhage (SMH) at baseline on long-term visual outcomes of patients with typical age-related macular degeneration (tAMD) and polypoidal choroidal vasculopathy (PCV) treated with intravitreal aflibercept (IVA). METHODS: In this retrospective study, eyes of treatment-naïve patients with tAMD and PCV who initiated IVA under a treat-and-extend regimen and were followed up for ≥ 5 years were classified into the tAMD-SMH ( +), tAMD-SMH (-), PCV-SMH ( +), and PCV-SMH (-) groups based on the presence of SMH at baseline. Best-corrected visual acuity (BCVA) changes and macular fibrosis and atrophy incidences were assessed. RESULTS: This study included 127 eyes (127 patients), including 51 with tAMD and 76 with PCV; 18 eyes had SMH at baseline. In the tAMD-SMH ( +) group (n = 6), the mean logMAR BCVA significantly deteriorated from 0.59 ± 0.45 at baseline to 0.88 ± 0.47 at the final visit (P = 0.024). No significant BCVA changes were observed in the tAMD-SMH (-) (n = 45), PCV-SMH ( +) (n = 12), or PCV-SMH (-) (n = 64) groups (all P > 0.05). The tAMD-SMH ( +) group showed a significantly higher incidence of macular fibrosis at the final visit than did the tAMD-SMH (-) group (P = 0.042). There was no influence of baseline SMH on the macular fibrosis incidence in eyes with PCV and the macular atrophy incidence in eyes with tAMD and PCV. CONCLUSION: The presence of SMH at baseline resulted in poorer long-term visual acuity in eyes with tAMD, even with aflibercept treatment. However, no such influence was observed in eyes with PCV.
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Angiografía con Fluoresceína , Fondo de Ojo , Inyecciones Intravítreas , Pólipos , Receptores de Factores de Crecimiento Endotelial Vascular , Proteínas Recombinantes de Fusión , Tomografía de Coherencia Óptica , Agudeza Visual , Degeneración Macular Húmeda , Humanos , Receptores de Factores de Crecimiento Endotelial Vascular/administración & dosificación , Proteínas Recombinantes de Fusión/administración & dosificación , Estudios Retrospectivos , Masculino , Femenino , Anciano , Tomografía de Coherencia Óptica/métodos , Angiografía con Fluoresceína/métodos , Estudios de Seguimiento , Degeneración Macular Húmeda/tratamiento farmacológico , Degeneración Macular Húmeda/diagnóstico , Degeneración Macular Húmeda/fisiopatología , Pólipos/diagnóstico , Pólipos/tratamiento farmacológico , Pólipos/fisiopatología , Resultado del Tratamiento , Factores de Tiempo , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiología , Hemorragia Retiniana/fisiopatología , Hemorragia Retiniana/tratamiento farmacológico , Coroides/irrigación sanguínea , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/fisiopatología , Neovascularización Coroidal/etiología , Inhibidores de la Angiogénesis/administración & dosificación , Inhibidores de la Angiogénesis/uso terapéutico , Mácula Lútea/patología , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Anciano de 80 o más Años , Persona de Mediana Edad , Vasculopatía Coroidea PolipoideaRESUMEN
PURPOSE: To analyze the pathophysiology of epiretinal membrane foveoschisis (FS) by evaluating the longitudinal changes in visual function and several optical coherence tomography parameters. METHODS: The medical records of 33 consecutive patients (35 eyes) with untreated epiretinal membrane foveoschisis were retrospectively reviewed. Best-corrected visual acuity, M-CHARTS score, and optical coherence tomography parameters including epiretinal membrane area, maximum depth of retinal folds, FS area, and FS circularity were evaluated. RESULTS: A wide range of FS area changes was observed at the final follow-up visit (59.68%-240.45% of the baseline FS area). In the FS enlargement group, best-corrected visual acuity and mean M-CHARTS scores significantly worsened and maximum depth of retinal folds significantly increased over time, whereas in the FS non-enlargement group, no significant change was observed in the best-corrected visual acuity, mean M-CHARTS scores, or maximum depth of retinal folds during the follow-up period. Multivariate logistic regression analyses revealed that maximum depth of retinal folds (odds ratio: 1.05, 95% confidence interval: 1.00-1.10, P = 0.048) and FS circularity (odds ratio: 0.91, 95% confidence interval: 0.83-1.00, P = 0.043) were significantly associated with FS enlargement. CONCLUSION: Epiretinal membrane foveoschisis encompasses diverse pathophysiologies. Since visual functions do not worsen in some cases, monitoring the changes in visual functions and retinal morphology over time is recommended to determine surgical indications.
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Membrana Epirretinal , Retinosquisis , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Membrana Epirretinal/fisiopatología , Membrana Epirretinal/diagnóstico , Tomografía de Coherencia Óptica/métodos , Agudeza Visual/fisiología , Masculino , Estudios Retrospectivos , Femenino , Anciano , Retinosquisis/fisiopatología , Retinosquisis/diagnóstico , Persona de Mediana Edad , Estudios de Seguimiento , Fóvea Central/fisiopatología , Fóvea Central/patología , Fóvea Central/diagnóstico por imagen , Anciano de 80 o más AñosRESUMEN
PURPOSE: To investigate the characteristics of mixed pathophysiologies in lamellar macular holes (LMHs) and related diseases using multimodal optical coherence tomography. METHODS: Overall, 126 eyes diagnosed with LMH, epiretinal membrane foveoschisis, or macular pseudohole using the horizontal B-scan image according to the definition proposed by Hubschman et al in 2020 were analyzed using multimodal optical coherence tomography imaging including horizontal and vertical 5-line B-scan, radial scan, and macular three-dimensional volume scan images. If at least two diagnostic criteria for LMH, epiretinal membrane foveoschisis, or macular pseudohole were satisfied in these scans, the patient was diagnosed as having a "mixed type." Retinal traction force was quantitatively evaluated by measuring the maximum depth of the retinal folds using en-face images. RESULTS: Mixed types constituted 34.1% of the cases. The LMH-related mixed group demonstrated intermediate characteristics between the epiretinal membrane foveoschisis/macular pseudohole and true LMH groups in terms of retinal traction and LMH-specific features and had a significant positive correlation between the maximum depth of the retinal folds and mean M-CHARTS scores (P = 0.034). CONCLUSION: A thorough optical coherence tomography analysis is necessary to accurately diagnose LMH and related diseases. A significant positive correlation was observed between the maximum depth of the retinal folds and the degree of metamorphopsia in the LMH-related mixed group.
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Membrana Epirretinal , Perforaciones de la Retina , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Tomografía de Coherencia Óptica/métodos , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/fisiopatología , Perforaciones de la Retina/diagnóstico por imagen , Femenino , Masculino , Anciano , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/fisiopatología , Membrana Epirretinal/diagnóstico por imagen , Agudeza Visual/fisiología , Estudios Retrospectivos , Persona de Mediana Edad , Imagen Multimodal , Retinosquisis/diagnóstico , Retinosquisis/fisiopatología , Retinosquisis/diagnóstico por imagen , Mácula Lútea/diagnóstico por imagen , Mácula Lútea/patología , Anciano de 80 o más AñosRESUMEN
A Japanese woman in her 70s was referred to our hospital for the evaluation and treatment of high intraocular pressure (IOP) in her right eye. She had undergone bilateral cataract surgeries and the insertion of hydrophilic acrylic intraocular lenses (IOLs). We performed trabeculotomy and trabeculectomy to lower her right IOP; thereafter, a circular opacity was observed on the right eye's IOL surface. We removed the right IOL because that eye's vision had decreased due to IOL opacification. The analysis of the removed IOL revealed that the main opacity component was calcium phosphate. This is the first post-glaucoma-surgery IOL calcification case report.
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Calcinosis , Glaucoma , Lentes Intraoculares , Humanos , Femenino , Lentes Intraoculares/efectos adversos , Calcinosis/etiología , Anciano , Glaucoma/cirugía , Glaucoma/etiología , Implantación de Lentes Intraoculares/efectos adversos , Complicaciones Posoperatorias/etiologíaRESUMEN
For BRAF V600E-mutated metastatic colorectal cancer (mCRC), the BEACON phase 3 trial showed survival benefit of triplet therapy with cetuximab (anti-EGFR antibody), encorafenib (BRAF inhibitor) and binimetinib (MEK inhibitor) as well as doublet therapy with cetuximab and encorafenib over irinotecan-based chemotherapy plus anti-EGFR antibody. Both regimens are standards of care in Japan, but definite biomarkers for predicting efficacy and selecting treatment remain lacking. The mechanisms underlying resistance to these regimens also warrant urgent exploration to further evolve treatment. This prospective observational/translational study evaluated real-word clinical outcomes with cetuximab and encorafenib with or without binimetinib for BRAF-mutated mCRC patients and investigated biomarkers for response and resistance by collecting blood samples before and after treatment. Clinical Trial Registration: UMIN000045530 (https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000051983).
The BEETS trial is a study that looks at how well two combinations of targeted therapies (cetuximab + encorafenib with or without binimetinib) work and how safe they are for patients with advanced colorectal cancer that has a mutation (change) in the BRAF gene. In this trial, patients participate voluntarily instead of being assigned to one of the two therapy groups. When a patient has BRAF-mutated advanced colorectal cancer, it means that the cancer cells in their body have changes in a gene called BRAF. This gene normally produces a protein called BRAF, which is involved in the growth of cells. However, when there is a mutation in this gene, it can cause the production of an overactive BRAF protein, leading to fast and excessive cell growth and division. For patients with BRAF-mutated advanced colorectal cancer, combinations of targeted therapies have been found to be effective as a second- or third-line treatment, based on the results of a phase 3 clinical trial. The main goal of the BEETS trial is to evaluate how well these treatments work and how safe they are when used in real-world clinical practice. Additionally, the study will use laboratory tests (liquid biopsy) to explore new biomarkers that can help predict how well a treatment will work and assist in selecting the most suitable treatment plans. We hope that the findings of this study will contribute to improving the overall management of this specific type of cancer.
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Beta vulgaris , Neoplasias del Colon , Neoplasias Colorrectales , Neoplasias del Recto , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Cetuximab/uso terapéutico , Neoplasias Colorrectales/tratamiento farmacológico , Neoplasias Colorrectales/genética , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Neoplasias del Colon/tratamiento farmacológico , Neoplasias del Recto/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/uso terapéutico , Mutación , Estudios Observacionales como AsuntoRESUMEN
PURPOSE: To compare the effects of macular intraretinal hemorrhage (IRH) and macular hole (MH) on best-corrected visual acuity (BCVA) after displacement of submacular hemorrhage (SMH) due to retinal arterial macroaneurysm (RAM) rupture. METHODS: This multicenter retrospective study included 48 eyes with SMH due to RAM rupture. Cases underwent vitrectomy to displace SMH and were followed up for 6 months. We classified cases according to the presence of IRH and MH and compared the postoperative BCVA among the groups. RESULTS: We classified the eyes into IRH(+)MH(+) group (10 eyes), IRH(+)MH(-) group (23 eyes), and IRH(-)MH(-) group (15 eyes). The postoperative BCVA was significantly worse in the IRH(+)MH(+) and IRH(+)MH(-) groups than in the IRH(-)MH(-) group (0.91 ± 0.41 in logarithm of the minimal angle of resolution units, Snellen equivalent 20/163, 0.87 ± 0.45, 20/148, and 0.18 ± 0.21, 20/30, respectively; P < 0.001). The postoperative central retinal thickness was significantly lower in the IRH(+) group (IRH(+)MH(+) and IRH(+)MH(-) groups combined) than in the IRH(-) group (IRH(-)MH(-) group) (121.4 ± 70.1 µ m and 174.3 ± 32.9 µ m, respectively, P = 0.008). The postoperative external limiting membrane and ellipsoid zone continuities were significantly discontinuous in the IRH(+) group ( P < 0.001, P = 0.001, respectively). The multiple linear regression analysis showed that both IRH(+)MH(+) and IRH(+)MH(-) were associated with the postoperative BCVA (regression coefficient, 0.799 and 0.711, respectively; P < 0.001 for both). CONCLUSION: Both IRH and MH were poor prognostic indicators in cases with SMH due to RAM rupture.
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Macroaneurisma Arterial de Retina , Perforaciones de la Retina , Humanos , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/etiología , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Macroaneurisma Arterial de Retina/complicaciones , Macroaneurisma Arterial de Retina/diagnóstico , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiología , Hemorragia Retiniana/cirugía , Pronóstico , Vitrectomía , Tomografía de Coherencia ÓpticaRESUMEN
A 23-year-old woman presented with a 1-month history of visual abnormalities in her right eye. A visual field test revealed temporal abnormalities in the right eye. Optical coherence tomography revealed an indistinct ellipsoid zone (EZ) on the B-scan image and hyporeflective areas in the EZ layer on the en face image in the right eye. We diagnosed the patient with acute zonal occult outer retinopathy. Visual field tests and B-scan images improved to almost normal at 6 months, but hyporeflective areas remained on the en face images. Thus, en face images may be more sensitive at detecting abnormalities in the outer retina than other modalities.
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Síndromes de Puntos Blancos , Humanos , Femenino , Adulto Joven , Adulto , Estudios de Seguimiento , Síndromes de Puntos Blancos/diagnóstico , Tomografía de Coherencia Óptica , Retina/diagnóstico por imagenRESUMEN
OBJECTIVE: To generate an effective embryo prediction model and identify a non-invasive evaluation method by analyzing microRNAs (miRNAs) in embryo culture medium. DESIGN: Analysis of microRNA profiles from spent culture medium of blastocysts with good morphology that did or did not result in pregnancy. SETTING: Clinical and experimental research. PATIENTS: Sixty patients who underwent thawed embryo transfer of blastocysts after intracytoplasmic sperm injection. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The association of miRNA abundance levels secreted by blastocysts in culture medium and implantation success. RESULTS: Our RNA sequencing analysis found a total of 53 differentially expressed miRNAs in the culture media of pregnancy and non-pregnancy groups. Twenty-one miRNAs were analyzed for their potential to predict implantation success. Eight miRNAs (hsa-miR-191-5p, hsa-miR-320a, hsa-miR-92a-3p, hsa-miR-509-3p, hsa-miR-378a-3p, hsa-miR-28-3p, hsa-miR-512-5p, and hsa-miR-181a-5p) were further extracted from the results of a logistic regression analysis of qPCR Ct values. A prediction model for high-quality blastocysts was generated using the eight miRNAs, with an average accuracy of 0.82 by 5-fold cross validation. CONCLUSION: We isolated blastocyst miRNAs that may predict implantation success and created a model to predict viable embryos. Increasing the number of investigated cases and further studying the effect of each miRNA on embryonic development is needed to refine the miRNA-based predictive model.
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Blastocisto , MicroARNs , Blastocisto/metabolismo , Implantación del Embrión , Humanos , Masculino , MicroARNs/genética , Inyecciones de Esperma IntracitoplasmáticasRESUMEN
BACKGROUND: There is no large real-world data regarding efficacy and safety of immunotherapy in gastric cancer (GC). Although some tumors can grow rapidly after immunotherapy, the patient proportions and survival outcomes are unclear in GC. METHODS: A multicenter, prospective observational study was performed to evaluate clinical outcomes including survival time, safety, and tumor behavior of nivolumab treatment for patients with advanced GC. Primary endpoint was overall survival (OS), and secondary endpoints included response rate (RR), disease control rate (DCR), progression-free survival (PFS), tumor growth rate (TGR) at first evaluation, and safety. RESULTS: Of 501 enrolled patients, 487 were evaluable (median age 70 years, 71% male, performance status 0/1/2 [42%/44%/14%], 21% HER2-pos, 42% patients with ascites). Median OS was 5.82 months (95% CI 5.29-7.00) with a 1-year survival rate of 30% and median PFS of 1.84 months (95% CI 1.71-1.97). The DCR was 39.4% and the RR was 14.2% (95% CI 10.3-18.8) in 282 patients with measurable lesions. In 219 patients evaluable for TGR, 20.5% were identified as hyperprogressive disease (HPD). OS from the first evaluation of patients with HPD was shorter compared with non-HPD (HR 1.77, 95% CI 1.25-2.51, P = 0.001), but it was not worse than that of patients with progression and non-HPD (HR 1.05, 95% CI 0.72-1.53, P = 0.8). A multivariate analysis revealed the presence of peritoneal metastasis was a prognostic factor for OS and PFS. CONCLUSIONS: Our real-world data demonstrated the comparable survival time to a previous clinical trial and revealed the frequency and prognosis of patients with HPD in advanced GC treated with nivolumab.
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Neoplasias Pulmonares , Neoplasias Gástricas , Anciano , Femenino , Humanos , Inmunoterapia , Neoplasias Pulmonares/tratamiento farmacológico , Masculino , Nivolumab/uso terapéutico , Supervivencia sin Progresión , Estudios Retrospectivos , Neoplasias Gástricas/tratamiento farmacológico , Neoplasias Gástricas/etiologíaRESUMEN
PURPOSE: To establish an objective and quantitative biomarker of metamorphopsia in epiretinal membranes (ERMs) and determine the optimal timing for ERM surgery. METHODS: Retrospectively, 172 eyes with ERM were reviewed. Retinal folds because of tangential traction by ERM were visualized by en-face optical coherence tomography. The maximum depth of retinal folds (MDRF) within the parafovea was quantified. Metamorphopsia was quantified by M-CHARTS. The change in the distance between the retinal vessels after ERM surgery and the preoperative total depth of retinal folds between the vessels were quantified using en-face optical coherence tomography and optical coherence tomography angiography. RESULTS: Significant correlations were observed between preoperative MDRF and M-CHARTS scores before and at 6 months after surgery (r = 0.617 and 0.460, respectively; P < 0.001) and change in the distance between the retinal vessels after ERM surgery and preoperative total depth of retinal folds between the vessels (r = 0.471; P = 0.013). The preoperative MDRF values at which M-CHARTS scores were 0.5 before and 6 months after the surgery were 69 µm and 118 µm, respectively. CONCLUSION: The MDRF is an objective and quantitative biomarker of metamorphopsia in ERM. To maintain patients' quality of vision, ERM surgery may be performed when the preoperative MDRF ranges between 69 µm and 118 µm.
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Membrana Epirretinal , Biomarcadores , Membrana Epirretinal/complicaciones , Membrana Epirretinal/cirugía , Humanos , Retina , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Trastornos de la Visión/etiología , Agudeza Visual , Vitrectomía/métodosRESUMEN
An 18-year-old male high school student presented to our clinic with bilateral blunt ocular trauma caused by an exercise resistance band (ERB) during a muscle-building exercise. Best-corrected decimal visual acuities (BCVAs) for right and left eyes were light perception and 0.15, respectively. The right eye was operated 10 days after injury for persistent vitreous hemorrhage, and the left eye 5 months later because of macular hole onset. After 36 months, the right eye showed extensive retinal degeneration (BCVA 0.04), and the left eye macular hole closure (BCVA 1.2). ERBs should be used cautiously as they can cause serious ocular trauma.
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Lesiones Oculares , Perforaciones de la Retina , Heridas no Penetrantes , Adolescente , Lesiones Oculares/etiología , Humanos , Masculino , Músculos , Natación , Agudeza Visual , Heridas no Penetrantes/complicacionesRESUMEN
PURPOSE: To investigate epiretinal membrane (ERM) formation using en face optical coherence tomography (OCT) after vitrectomy for rhegmatogenous retinal detachment (RRD). METHODS: We retrospectively reviewed the medical records of 64 consecutive eyes (64 patients) with RRD treated by vitrectomy without ERM and internal limiting membrane peeling. ERMs and retinal folds were detected by B-scan and en face imaging. The maximum depth of retinal folds (MDRF) was quantified using en face imaging. ERM severity was staged using B-scan imaging. Main outcome measures were ERM detection rate with B-scan and en face imaging, MDRF, ERM staging, postoperative best-corrected visual acuity (BCVA; logarithm of the minimum angle of resolution), and risk factors for ERM formation. RESULTS: The detection rate for ERM formation was significantly higher with en face imaging (70.3%) than with B-scan imaging (46.9%; P = 0.007). There was no significant difference in postoperative BCVA between eyes with ERM formation (0.06 ± 0.26) and those without ERM formation (0.01 ± 0.14; P = 0.298). Forty of 45 (88.9%) eyes with ERM formation were classified as stage 1. Twenty-seven of 45 (60.0%) eyes with ERM formation developed parafoveal retinal folds. The mean MDRF was 27.4 ± 32.2 µm. Multiple retinal breaks and a maximum retinal break size of ≥ 2 disc diameters were significantly associated with ERM formation (P = 0.033 and P = 0.031, respectively). CONCLUSION: Although ERM formation was observed in 70.3% patients after RRD repair, the formed ERM was not severe and had minimal impact on the postoperative visual acuity.
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Membrana Epirretinal , Desprendimiento de Retina , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/cirugía , Humanos , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/cirugía , Estudios Retrospectivos , Tomografía de Coherencia Óptica , VitrectomíaRESUMEN
Epiretinal membrane (ERM) is a common retinal disease characterized by cellular proliferation and metaplasia that lead to the formation of a pathological fibrocellular membrane immediately superjacent to the inner retinal surface. The vast majority of ERMs are considered idiopathic. However, ERM formation can result from various primary intraocular diseases, including retinal breaks and detachment, retinal vascular diseases, and vitreoretinal inflammatory conditions. Although ERMs are generally asymptomatic or cause mild metamorphopsia and/or a modest decrease in visual acuity, some can cause severe macular distortion and macular edema, resulting in significantly impaired function. Surgical removal of ERM is the only treatment, and improvements in vitrectomy systems have enabled less invasive treatment. However, there are currently no standardized criteria for ERM surgery, and the indications for surgery are determined from the patient's subjective symptoms. Another problem with ERM surgery is that not all patients show satisfactory postoperative recovery of visual function. Thus, further research is needed to determine the criteria for ERM surgery and methods to improve the postoperative prognosis.
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Membrana Epirretinal/cirugía , Vitrectomía/métodos , Membrana Epirretinal/diagnóstico por imagen , Membrana Epirretinal/etiología , Membrana Epirretinal/fisiopatología , Humanos , Tomografía de Coherencia Óptica , Agudeza Visual , Vitrectomía/efectos adversosRESUMEN
A 58-year-old Japanese man underwent vitrectomy for rhegmatogenous retinal detachment (RRD) in 2002. Twelve years later, optical coherence tomography revealed the development of a lamellar macular hole; the visual acuity was 20/200. Two years later, because metamorphopsia and the foveal retina thinning were aggravated, epiretinal proliferation embedding was performed to restore the foveal structure by transplanting glial cells to the foveal cavity. The patient was followed-up for 4 years, and his macular morphology and visual acuity (20/66) improved. No complications occurred. This appears to be the first report of epiretinal proliferation embedding for a lamellar macular hole post-RRD repair.
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Proliferación Celular , Membrana Epirretinal/cirugía , Perforaciones de la Retina/cirugía , Humanos , Masculino , Persona de Mediana Edad , Recurrencia , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/diagnóstico por imagen , Perforaciones de la Retina/patología , Tomografía de Coherencia Óptica , Vitrectomía/efectos adversosRESUMEN
A 79-year-old woman presented to our hospital with a 10-day history of gradually worsening binocular vision and severe backache. Further investigations revealed poor bilateral best-corrected visual acuities (BCVA), bilateral vitreous opacities, gray-white lesions scattered throughout the retina, and a left iliopsoas abscess on CT that later grew out methicillin-sensitive S. aureus. The abscess was drained and intravenous antibiotics were initiated, but the left eye additionally required intravitreal vancomycin. BCVA for both eyes normalized within 1 year. Intramuscular abscess should be considered as a possible primary lesion in cases of endogenous bacterial endophthalmitis.
Asunto(s)
Endoftalmitis/diagnóstico , Infecciones Bacterianas del Ojo/diagnóstico , Absceso del Psoas/diagnóstico , Anciano , Femenino , Humanos , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Infecciones Estafilocócicas/diagnósticoRESUMEN
A 65-year-old man presented with a 1-week history of left eye distortion. An elevated choroidal lesion covering 6 disc diameters was found in the posterior retina of the left eye. Systemic examination revealed sublingual gland carcinoma and multiple lung metastases, and the diagnosis was choroidal metastasis from sublingual gland carcinoma. Following chemotherapy and radiation therapy, the choroidal lesion shrunk and the patient's visual acuity improved. The patient died 23 months after his first visit. To the best of our knowledge, this is the first reported case of choroidal metastasis from sublingual gland carcinoma.
Asunto(s)
Carcinoma/patología , Neoplasias de la Coroides/secundario , Neoplasias de la Glándula Sublingual/patología , Anciano , Carcinoma/diagnóstico , Resultado Fatal , Humanos , Neoplasias Pulmonares/secundario , Masculino , Glándula Sublingual/patología , Neoplasias de la Glándula Sublingual/diagnósticoRESUMEN
BACKGROUND: Perfluorocarbon liquid (PFCL) is an effective surgical adjuvant in performing vitrectomy for severe vitreoretinal pathologies such as proliferative vitreoretinopathy and giant retinal tears. However, subretinal retention of PFCL can occur postoperatively and retained PFCL causes severe visual disorders, particularly when PFCL was retained under the fovea. Although several procedures have been proposed for subfoveal PFCL removal, such as direct aspiration or submacular injection of balanced salt solution (BSS) to dislodge the subfoveal PFCL, the retinal damage associated with these procedures has been a major problem. Here, we report a case of subfoveal retention of PFCL for which we performed a novel surgical technique that attempts to minimize retinal damage. CASE PRESENTATION: A 69-year-old man presented with subfoveal retained PFCL after surgery for retinal detachment. To remove the retained PFCL, the internal limiting membrane overlying the subretinal injection site is first peeled to allow low-pressure (8 psi) transretinal BSS infusion, using a 41-gauge cannula, to slowly detach the macula. A small drainage retinotomy is created with the diathermy tip at the inferior position of the macular bleb, sized to be slightly wider than that of the PFCL droplet. The head of the bed is then raised, and the surgeon gently vibrates the patient's head to release the PFCL droplet to allow it to migrate inferiorly towards the drainage retinotomy. The bed is returned to the horizontal position, and the PFCL, now on the retinal surface, can be aspirated. The subfoveal PFCL is removed while minimizing iatrogenic foveal and macular damage. One month after PFCL removal, the foveal structure showed partial recovery on optical coherence tomography, and BCVA improved to 20/40. CONCLUSION: Creating a macular bleb with low infusion pressure and using vibrational forces and gravity to migrate the PFCL towards a retinotomy can be considered as a relatively atraumatic technique to remove subfoveal retained PFCL.