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1.
BMC Cancer ; 23(1): 477, 2023 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-37231388

RESUMEN

OBJECTIVE: To investigate the value of CT radiomics features of meso-esophageal fat in the overall survival (OS) prediction of patients with locally advanced esophageal squamous cell carcinoma (ESCC). METHODS: A total of 166 patients with locally advanced ESCC in two medical centers were retrospectively analyzed. The volume of interest (VOI) of meso-esophageal fat and tumor were manually delineated on enhanced chest CT using ITK-SNAP. Radiomics features were extracted from the VOIs by Pyradiomics and then selected using the t-test, the Cox regression analysis, and the least absolute shrinkage and selection operator. The radiomics scores of meso-esophageal fat and tumors for OS were constructed by a linear combination of the selected radiomic features. The performance of both models was evaluated and compared by the C-index. Time-dependent receiver operating characteristic (ROC) analysis was employed to analyze the prognostic value of the meso-esophageal fat-based model. A combined model for risk evaluation was constructed based on multivariate analysis. RESULTS: The CT radiomic model of meso-esophageal fat showed valuable performance for survival analysis, with C-indexes of 0.688, 0.708, and 0.660 in the training, internal, and external validation cohorts, respectively. The 1-year, 2-year, and 3-year ROC curves showed AUCs of 0.640-0.793 in the cohorts. The model performed equivalently compared to the tumor-based radiomic model and performed better compared to the CT features-based model. Multivariate analysis showed that meso-rad-score was the only factor associated with OS. CONCLUSIONS: A baseline CT radiomic model based on the meso-esophagus provide valuable prognostic information for ESCC patients treated with dCRT.


Asunto(s)
Neoplasias Esofágicas , Carcinoma de Células Escamosas de Esófago , Humanos , Carcinoma de Células Escamosas de Esófago/diagnóstico por imagen , Carcinoma de Células Escamosas de Esófago/terapia , Neoplasias Esofágicas/terapia , Neoplasias Esofágicas/tratamiento farmacológico , Estudios Retrospectivos , Quimioradioterapia , Tomografía Computarizada por Rayos X
2.
Aesthetic Plast Surg ; 2022 Dec 27.
Artículo en Inglés | MEDLINE | ID: mdl-36574028

RESUMEN

BACKGROUND: With the global increase in the use of injectable fillers, more cases with serious adverse events such vision loss are being reported. This article aims to review the cases of hyaluronic acid (HA) filler-related vision loss and to discuss the potential efficacy of hyaluronidase (HYASE) treatment via different given methods. METHODS: A total of 29 articles presenting 144 cases of HA filler-related vision loss were included in this study. RESULTS: Most cases of HA filler-related vision impairment were reported from China, followed by Korea. The majority of cases were seen in women. The nose, forehead and glabella were the most commonly injection sites. All cases had vision impairment and nearly all cases were unilateral with immediate onset of visual signs and symptoms. Ophthalmic artery occlusion (OAO) and central retinal artery occlusion (CRAO) were the two most commonly involved arterial obstruction patterns featured with a very poor prognosis followed by branch retinal artery occlusion (BRAO), the most favorable involved arterial pattern for a better prognosis. HYASE given subcutaneously and intra-arterially helped with visual recovery to different degrees, while retrobulbar HYASE seemed to be less helpful. CONCLUSION: Complications after HA-based filler injection are extremely rare but can cause disastrous visual impairment. HYASE given subcutaneously and intra-arterially helped with visual recovery to different extents, and the efficacy might be reinforced when performed together, while retrobulbar HYASE seemed to be less helpful. However, to accurately access the efficacy of HYASE via different administration methods, further randomized controlled trials are needed. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

3.
Mol Vis ; 27: 632-642, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34924743

RESUMEN

Purpose: Familial exudative vitreoretinopathy (FEVR) is an inherited retinal vascular disease genetically heterogeneous with multiple causative genes. The aim of this study is to report five novel copy number variation (CNV) regions in FEVR patients and to investigate the possible contributions of novel CNVs to FEVR. Methods: In this study, 824 FEVR families were collected. All cases were performed using the targeted next generation sequencing (NGS) assay, and families with no definite pathogenic mutations in FEVR genes were screened for CNVs according to the NGS results. Droplet digital polymerase chain reaction (ddPCR) testing was introduced to validate the screened CNV regions. We also reviewed the clinical presentations of the probands and affected family members associated with the novel CNVs and conducted segregation analysis. Results: Five CNVs in five patients were detected in this study: heterozygous deletions of kinesin family member 11 (KIF11) exons 2-4, KIF11 exon 11, KIF11 exons 1-10, tetraspanin-12 (TSPAN12) exons 1-3, and low-density lipoprotein receptor-related protein 5 (LRP5) exons 19-21. Among the five affected families, TSPAN12 exons 1-3 heterozygous deletion and LRP5 exons 19-21 heterozygous deletion originate from the mother and the father of the proband, respectively. No other family members manifested as FEVR except for the probands. The correlation between disease severity and CNV loci seems uncertain. Conclusions: Five novel CNV loci in FEVR patients were uncovered in this study, including one maternally-inherited and one paternally-inherited CNV region. Though there is no evidence of co-segregation between these CNVs and FEVR, our findings suggest novel genetic risk factors for FEVR.


Asunto(s)
Enfermedades Hereditarias del Ojo , Cinesinas/genética , Proteína-5 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Enfermedades de la Retina , Tetraspaninas , Variaciones en el Número de Copia de ADN , Análisis Mutacional de ADN , Enfermedades Hereditarias del Ojo/genética , Vitreorretinopatías Exudativas Familiares , Humanos , Mutación , Linaje , Fenotipo , Enfermedades de la Retina/genética , Tetraspaninas/genética
4.
Exp Eye Res ; 209: 108666, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34129849

RESUMEN

As a posttranscriptional regulatory mechanism, alternative splicing (AS) has the potential to generate a large amount of protein diversity from limited genes. The purpose of our study was to assess the usefulness of prognostic splicing events as novel diagnostic and therapeutic signatures for uveal melanoma (UM). The datasets, clinical traits and AS data of UM were obtained from The Cancer Genome Atlas (TCGA) database and TCGA SpliceSeq database. Using bioinformatics analysis, we identified 1047 AS events as candidate AS events closely related to prognosis from 920 parent genes. The gene enrichment analysis indicated that these genes were mainly enriched in cellular components (CC) including cytosol, nucleoplasm, cytoplasm and ribosome, and in molecular functions (MF), including protein binding and poly(A) RNA binding. Furthermore, we selected all survival-associated splicing events to generate prognostic signatures, which included 4 exon skip (ES) events (DNASE1L1-90581-ES, NUDT1-78611-ES, BIN1-55198-ES, SEPN1-1195-ES) and 1 alternate promoter (AP) event (DPYSL2-83132-AP). The AS prognostic model was confirmed as independent overall survival (OS)-related factors (p = 0.014). A total of 17 splicing factors (SFs) involved in the regulation of AS were identified as related to the OS of UM patients. Our pooled data highlighted the usefulness and importance of AS biomarkers, which provided a potential strategy for the diagnosis and treatment of UM.


Asunto(s)
Biomarcadores de Tumor/genética , Biología Computacional/métodos , Perfilación de la Expresión Génica/métodos , Regulación Neoplásica de la Expresión Génica , Melanoma/genética , Neoplasias de la Úvea/genética , Adulto , Empalme Alternativo , Biomarcadores de Tumor/biosíntesis , Femenino , Redes Reguladoras de Genes , Humanos , Masculino , Melanoma/metabolismo , Pronóstico , Neoplasias de la Úvea/metabolismo
5.
Exp Cell Res ; 388(1): 111811, 2020 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-31899207

RESUMEN

Age-related macular degeneration is a progressive ocular disease that is the leading cause of vision loss among elderly. AMD usually is divided into two types: wet and dry AMD, which is linked with inflammation. Choroidal Neovascularization (CNV) formation or wet AMD is also associated with oxidative stress. Previously, TSP1 has been shown to have a significant alleviating effect on CNV in TSP1 knockout (TSP1-/-) mice. However, the mechanism by which TSP1 ameliorates CNV remains unclear. Here we report that TSP1 reduces nitric oxide production to prevent cells from forming tubes formation and reduced the levels of vascular endothelial growth factor (VEGF) and lipid peroxides (LPO) during oxidative stress. We measured RF/6A cell viability by CCK-8 assay and apoptosis by flow cytometry. RF/6A cell were transfected with TSP1 and STAT3 overexpression, and then the mRNA and protein levels of TSP1 and also the signal pathways were detected by qRT-PCR and Western blot analysis. Migration assays were performed using a transwell system. Co-Immunoprecipitation was used to analyze the binding relationship between CD47 and SHP-2. The results show that overexpression of TSP1 alleviated the damage of oxidative stress to RF/6A cells including increased cell activity and migration, decreased apoptosis and reduced migration compared to the control group. SHP-2 was activated by TSP1 through its receptor CD47 and STAT3 phosphorylation was reduced by activation of SHP-2, thereby blocking STAT3-iNOS pathway and reducing NO concentration in RF/6A cells ultimately protecting them from oxidative stress. Finally, the CNV mice model confirmed that TSP1 overexpression could protect the mice against CNV in vivo, modified the antioxidants levels and decreased the expression of TNF-α and IL-6 under laser irradiation. These results indicate a potential mechanism of TSP1 to slow down formation of CNV in wet AMD, which may bring hope for new treatment strategies.


Asunto(s)
Degeneración Macular/metabolismo , Óxido Nítrico Sintasa de Tipo II/metabolismo , Factor de Transcripción STAT3/metabolismo , Trombospondina 1/metabolismo , Animales , Apoptosis , Antígeno CD47/metabolismo , Línea Celular , Peroxidación de Lípido , Macaca mulatta , Masculino , Ratones , Ratones Endogámicos C57BL , Óxido Nítrico/metabolismo , Proteína Tirosina Fosfatasa no Receptora Tipo 11/metabolismo , Transducción de Señal , Trombospondina 1/genética , Factor A de Crecimiento Endotelial Vascular/metabolismo
6.
Retina ; 41(9): 1976-1985, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34432746

RESUMEN

PURPOSE: To determine the efficacy of intravitreal ranibizumab (IVR) treatment for advanced familial exudative vitreoretinopathy with high vascular activity. METHODS: The retrospective interventional case series included 28 eyes (20 patients) that had IVR in combination or not with other treatment, for Stage 3 to 5 familial exudative vitreoretinopathy with active fibrovascular proliferation and prominent subretinal exudation. Outcome measures were fundus features after treatment, associated clinical variables, and genetic mutations. RESULTS: The age of patients at the first IVR ranged from 0.2 to 36 months. An average of 1.3 IVR injections per eye were given. Familial exudative vitreoretinopathy regressed in 16 (57%) eyes and progressed in 12 eyes (43%) after IVR. Laser and/or vitrectomy was performed on 13 eyes. The retina was reattached in 22 eyes (78%) after 24 to 58 months follow-up. Clinical variables associated with progression after IVR were preexisting fibrovascular proliferation over one quadrant and persistent vascular activity after the initial injection (P < 0.05). Familial exudative vitreoretinopathy-causative genetic mutations in 11 patients were related to variable response to IVR treatment. CONCLUSION: Intravitreal ranibizumab treatment may effectively regress advanced familial exudative vitreoretinopathy with high vascular activity in selected cases. Different treatment outcomes may be relevant to variable presentation and genetic heterogeneity of familial exudative vitreoretinopathy.


Asunto(s)
Vitreorretinopatías Exudativas Familiares/tratamiento farmacológico , Angiografía con Fluoresceína/métodos , Ranibizumab/administración & dosificación , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Inhibidores de la Angiogénesis/administración & dosificación , Preescolar , Vitreorretinopatías Exudativas Familiares/diagnóstico , Femenino , Estudios de Seguimiento , Fondo de Ojo , Humanos , Lactante , Inyecciones Intravítreas , Masculino , Estudios Retrospectivos
7.
Biol Reprod ; 103(5): 1085-1098, 2020 10 29.
Artículo en Inglés | MEDLINE | ID: mdl-32776126

RESUMEN

Women with polycystic ovary syndrome (PCOS) are characterized by endocrine disorders accompanied by a decline in oocyte quality. In this study, we generated a PCOS mice model by hypodermic injection of dehydroepiandrosterone, and metformin was used as a positive control drug to study the effect of pachymic acid (PA) on endocrine and oocyte quality in PCOS mice. Compared with the model group, the mice treated with PA showed the following changes (slower weight gain, improved abnormal metabolism; increased development potential of GV oocytes, reduced number of abnormal MII oocytes, and damaged embryos; lower expression of ovarian-related genes in ovarian tissue and pro-inflammatory cytokines in adipose tissue). All these aspects show similar effects on metformin. Most notably, PA is superior to metformin in improving inflammation of adipose tissue and mitochondrial abnormalities. It is suggested that PA has the similar effect with metformin, which can improve the endocrine environment and oocyte quality of PCOS mice. These findings suggest that PA has the similar effect with metformin, which can improve the endocrine environment and oocyte quality of PCOS mice.


Asunto(s)
Oocitos/efectos de los fármacos , Ovario/efectos de los fármacos , Síndrome del Ovario Poliquístico/metabolismo , Triterpenos/farmacología , Animales , Deshidroepiandrosterona , Modelos Animales de Enfermedad , Femenino , Metformina/farmacología , Ratones , Oocitos/metabolismo , Ovario/metabolismo , Síndrome del Ovario Poliquístico/inducido químicamente
8.
Genet Med ; 22(1): 77-84, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31273345

RESUMEN

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a blindness-causing retinal vascular disease characterized by incomplete vascularization of the peripheral retina and by the absence or abnormality of the second/tertiary capillary layers in the deep retina. Variants in known FEVR disease genes can only explain about 50% of FEVR-affected cases. We aim to identify additional disease genes in patients with FEVR. METHODS: We applied exome sequencing analysis in a cohort of 49 FEVR families without pathogenic variants in known FEVR genes. Functions of the affected proteins were evaluated by reporter assay. Knockout mouse models were generated by endothelial-specific Cre line. RESULTS: Three novel rare heterozygous variants in Notch ligand JAG1 were identified in FEVR families-c.413C>T p. (A138V), c.1415G>A p. (R472H), and c.2884A>G p. (T962A)-and verified by Sanger sequencing analysis. Notch reporter assay revealed that mutant JAG1 proteins JAG1-A138V and JAG1-T962A lost almost all of their activities, and JAG1-R472H lost approximately 50% of its activity. Deletion of Jag1 in mouse endothelial cells resulted in reduced tip cells at the angiogenic front and retarded vessel growth, reproducing FEVR-like phenotypes. CONCLUSION: Our data suggest that JAG1 is a novel candidate gene for FEVR and pinpoints a potential target for therapeutic intervention.


Asunto(s)
Secuenciación del Exoma/métodos , Vitreorretinopatías Exudativas Familiares/genética , Proteína Jagged-1/genética , Mutación , Neovascularización Patológica/genética , Animales , Modelos Animales de Enfermedad , Vitreorretinopatías Exudativas Familiares/patología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Ratones , Ratones Noqueados , Células 3T3 NIH , Neovascularización Patológica/patología , Linaje , Fenotipo
9.
Optom Vis Sci ; 97(6): 390-394, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32511159

RESUMEN

SIGNIFICANCE: Vaccine-associated uveitis has appeared in recent years because of various vaccines, whereas cases for human papillomavirus (HPV) vaccination were rarely reported. With more and more females becoming aware of its importance and choosing HPV vaccination, much more attention should be paid on the adverse effects of it. PURPOSE: The purpose of this study was to report a rare case of posterior uveitis after divalent HPV vaccination in an Asian female. CASE REPORT: A 29-year-old woman presented with acute vision loss accompanied by symptoms of headache, tinnitus, and myalgia after the third injection of HPV vaccination. The best-corrected visual acuity dropped to 20/500 for both eyes, and optical coherence tomography revealed bilateral multifocal submacular fluid. A short course of oral prednisone as well as Ozurdex intravitreal injection resulted in the reversal of all signs and symptoms. CONCLUSIONS: Although this case resembled Harada disease, we diagnosed it as vaccine-induced uveitis rather than coincidental autoimmune disease based on the rapid response to a short course of systemic corticosteroids. Because vaccine-induced uveitis is rare and difficult to distinguish from coincidental autoimmune disease, our case reminds eye care providers to be aware of the possible association between vaccination and a Harada-like reaction and to ask appropriately directed questions when obtaining history from young patients with uveitis. Based on this case, we also suggest Ozurdex intravitreal injection as a potential therapeutic choice, especially for patients with contraindication or personal concern to systemic corticosteroid.


Asunto(s)
Papillomaviridae/inmunología , Infecciones por Papillomavirus/prevención & control , Vacunas contra Papillomavirus/efectos adversos , Uveítis Posterior/etiología , Vacunación/efectos adversos , Trastornos de la Visión/etiología , Administración Oral , Adulto , Pueblo Asiatico/etnología , China/epidemiología , Dexametasona/administración & dosificación , Implantes de Medicamentos , Femenino , Angiografía con Fluoresceína , Glucocorticoides/administración & dosificación , Humanos , Inyecciones Intramusculares , Inyecciones Intravítreas , Prednisona/administración & dosificación , Tomografía de Coherencia Óptica , Uveítis Posterior/diagnóstico , Uveítis Posterior/tratamiento farmacológico , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/tratamiento farmacológico , Agudeza Visual/fisiología
10.
J Cell Physiol ; 234(8): 13820-13831, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-30644094

RESUMEN

Recently, graphene nanomaterials have attracted tremendous attention and have been utilized in various fields because of their excellent mechanical, thermal, chemical, optical properties, and good biocompatibility, especially in biomedical aspects. However, there is a concern that the unique characteristics of nanomaterials may have undesirable effects. Therefore, in this study, we sought to systematically investigate the effects of graphene quantum dots (GQDs) on the maturation of mouse oocytes and development of the offspring via in vitro and in vivo studies. In vitro, we found that the first polar body extrusion rate in the high dosage exposure groups (1.0-1.5 mg/ml) 2 decreased significantly and the failure of spindle migration and actin cap formation after GQDs exposure was observed. The underlying mechanisms might be associated with reactive oxygen species accumulation and DNA damage. Moreover, transmission electron microscope studies showed that GQDs may have been internalized into oocytes, tending to accumulate in the nucleus and severely affecting mitochondrial morphology, which included swollen and vacuolated mitochondria accompanied by cristae alteration with a lower amount of dense mitochondrial matrix. In vivo, when pregnant mice were exposed to GQDs at 8.5 days of gestation (GD, 8.5), we found that high dosage of GQD exposure (30 mg/kg) significantly affected mean fetal length; however, all the second generation of female mice grew up normal, attained sexual maturity, and gave birth to a healthy offspring after mating with a healthy male mouse. The results presented in this study are important for the future investigation of GQDs for the biomedical applications.


Asunto(s)
Desarrollo Embrionario/efectos de los fármacos , Grafito/farmacología , Oocitos/citología , Puntos Cuánticos/química , Actinas/metabolismo , Animales , Roturas del ADN de Doble Cadena/efectos de los fármacos , Femenino , Feto/efectos de los fármacos , Feto/embriología , Masculino , Metafase/efectos de los fármacos , Ratones , Mitocondrias/efectos de los fármacos , Mitocondrias/ultraestructura , Oocitos/efectos de los fármacos , Oocitos/metabolismo , Oocitos/ultraestructura , Puntos Cuánticos/ultraestructura , Especies Reactivas de Oxígeno/metabolismo , Huso Acromático/efectos de los fármacos , Huso Acromático/metabolismo , Difracción de Rayos X
11.
BMC Ophthalmol ; 19(1): 126, 2019 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-31176357

RESUMEN

BACKGROUND: To delineate the characteristics of complicated familial exudative vitreoretinopathy (FEVR) patients diagnosed before surgery or intra-/post-operatively and to analyze the risk factors for the diagnostic timing. METHODS: Forty-eight patients who underwent surgery and were diagnosed as FEVR in our department were retrospectively reviewed. Data were collected including the demographic and clinical characteristics of these patients. FEVR patients were divided into 2 groups according to the diagnostic timing: FEVR diagnosed pre-operatively (23 patients), FEVR diagnosed intra-/post-operatively (25 patients). Multivariable analysis was applied for analyzing the risk factors for diagnostic timing. RESULTS: The clinical characteristics of the FEVR patients were of great variability, including retinal detachment (RD), disappear of anterior chamber, retrolental membrane, epiretinal membrane (ERM), vitreous hemorrhage (VH), myopic foveoschisis (MF), lamellar macular hole (LMH), high myopia (HM). And the referral diagnosis or pre-operative diagnosis were always non-specific. The majority of the referral or preoperative diagnosis were unilateral RD (52.1%), bilateral RD (8.3%), unilateral persistent fetal vasculature (PFV) (8.3%), bilateral PFV (4.2%). There are two risk factors for the complicated FEVR cases diagnosed as FEVR preoperatively: pre-operative ocular manifestations with RD only (OR, 0.104; p-value, 0.022), positive parent's fluorescein angiography (FA) (OR, 0.105; p-value, 0.035). CONCLUSIONS: The phenotypes of FEVR were greatly variable, they can mimic many non-specific vitreoretinal disorders. The most non-specific referral diagnosis/pre-operative diagnosis was unilateral RD, bilateral RD, unilateral PFV, bilateral PFV. A positive family history or a simple ocular presentation with RD only could contribute to diagnose FEVR preoperatively.


Asunto(s)
Diagnóstico Precoz , Enfermedades Hereditarias del Ojo/diagnóstico por imagen , Angiografía con Fluoresceína/métodos , Oftalmoscopía/métodos , Retina/patología , Enfermedades de la Retina/diagnóstico por imagen , Cirugía Vitreorretiniana/métodos , Cuerpo Vítreo/patología , Adolescente , Adulto , Niño , Preescolar , Diagnóstico Diferencial , Enfermedades Hereditarias del Ojo/cirugía , Vitreorretinopatías Exudativas Familiares , Femenino , Estudios de Seguimiento , Fondo de Ojo , Humanos , Lactante , Periodo Intraoperatorio , Masculino , Persona de Mediana Edad , Periodo Posoperatorio , Periodo Preoperatorio , Enfermedades de la Retina/cirugía , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
12.
Graefes Arch Clin Exp Ophthalmol ; 256(11): 2149-2156, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30097784

RESUMEN

AIM: To describe and analyse the clinical and genetic characteristics of digenic familial exudative vitreoretinopathy (FEVR). METHODS: The study cohort consisted of patients with FEVR (n = 13) to identify patients with two mutations in two different genes. A genetic analysis of the LRP5, FZD4, TSPAN12, and ZNF408 genes was performed with next-generation sequencing (NGS). The genotype data obtained from the patients with FEVR were analysed and correlated with their clinical manifestations. They were then further evaluated in conjunction with other data that were available for these genes. The probands and parents/relatives underwent comprehensive age-appropriate ophthalmic examinations. RESULTS: The medical history and genetic reports of 487 patients with FEVR were reviewed. In all, we identified 13 probands (2.67%, 13/487) with simultaneous mutations in two disease-causing genes. A total of 25 of mutations were found, including10 in FZD4, 8 in LRP5, 3 in ZNF408, 2 in NDP, and 2 in TSPAN12. The most frequent mutations were those in FZD4 and LRP5. We identified 8 mutations that had previously been identified and 17 novel variants. Among 26 eyes, 65.38% exhibited a phenotype, and 10 (38.46%) were stage 4, while 7 (26.92%) were stage 5. CONCLUSIONS: This is the first study to report a group of patients with digenic FEVR. In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes.


Asunto(s)
Proteínas de Unión al ADN/genética , Receptores Frizzled/genética , Proteína-5 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Mutación , Enfermedades de la Retina/genética , Tetraspaninas/genética , Factores de Transcripción/genética , Peso al Nacer , Niño , Preescolar , Análisis Mutacional de ADN , Enfermedades Hereditarias del Ojo , Vitreorretinopatías Exudativas Familiares , Femenino , Genotipo , Edad Gestacional , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Linaje , Fenotipo , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/fisiopatología , Estudios Retrospectivos , Agudeza Visual/fisiología , Adulto Joven
13.
Ophthalmology ; 124(8): 1156-1164, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28412066

RESUMEN

PURPOSE: To investigate the anatomic outcomes and influencing factors of ranibizumab in the treatment of retinopathy of prematurity (ROP). DESIGN: Retrospective case series. PARTICIPANTS: A total of 283 eyes of 145 patients with type 1 ROP treated with intravitreal injection of ranibizumab (IVR) as primary treatment. METHODS: Retrospective review of infants who were diagnosed with type 1 ROP and accepted IVR (0.25 mg/0.025 ml) as primary treatment from January 2012 to August 2015. The anatomic outcomes and the influencing factors were analyzed. MAIN OUTCOME MEASURES: Anatomic outcomes of ROP eyes after IVR and the influencing factors. RESULTS: A total of 283 eyes of 145 patients were included in this study. There were a total of 266 eyes (94.0%) in the positive response group and 17 eyes (6.0%) in the negative/no response group after IVR. Within the positive response group, 139 eyes (48.6%) were in the regression without reactivation subgroup, and 127 eyes (44.9%) were in the regression with reactivation subgroup. A total of 152 eyes received additional laser or surgical treatment. At the last visit, 278 eyes (98.2%) had attached retinas, and 5 eyes (1.8%) had retinal detachment. A classification tree model showed that for patients with gestational age (GA) ≤29.5 weeks, the possibility of experiencing reactivation after IVR is higher than that of those with GA >29.5 weeks (61.6% vs. 29.6%). Moreover, for patients with GA ≤29.5 weeks, those diagnosed with zone II stage 2+ ROP have a lower possibility of experiencing reactivation than other patients (37.9% vs. 80%). CONCLUSIONS: Intravitreal injection of ranibizumab seemed to be effective in treating patients with ROP. After treatment, there were primarily 3 different outcomes. Our predictive tree model is helpful for ophthalmologists to evaluate the risk of reactivation.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Ranibizumab/uso terapéutico , Retinopatía de la Prematuridad/tratamiento farmacológico , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Inyecciones Intravítreas , Masculino , Tamizaje Neonatal , Pronóstico , Recurrencia , Retina/fisiopatología , Retinopatía de la Prematuridad/clasificación , Retinopatía de la Prematuridad/fisiopatología , Estudios Retrospectivos , Factores de Riesgo , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual/fisiología
14.
Ophthalmologica ; 238(4): 179-185, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28866667

RESUMEN

PURPOSE: To present the use of a 24-G Optiva® i.v. catheter for external drainage of subretinal fluid (SRF) in bullous exudative retinal detachment (RD). METHODS: Thirteen eyes with bullous exudative RD were included in our study. SRF drainage was accomplished via a transconjunctival scleral incision with a 24-G catheter followed by laser treatment, vitrectomy, or anti-VEGF treatment, as needed. Data on age, indications, visual acuities, the number of drainage times, drainage duration, complications, and fundoscopy were collected. RESULTS: Two females and 11 males, with a mean age of 4.2 ± 2.7 years, were included. Surgical indications included exudative RD caused by Coats disease (12 eyes) and Sturge- Weber syndrome (1 eye). Successful drainage was achieved in all cases. The mean duration of the SRF drainage procedure was 63.5 ± 16.9 s. Except for 1 case of localized subretinal haemorrhage, no complications were noted. CONCLUSIONS: External drainage of SRF using a 24-G Optiva® i.v. catheter is safe, efficient, and useful.


Asunto(s)
Catéteres , Drenaje/instrumentación , Desprendimiento de Retina/cirugía , Niño , Preescolar , Conjuntiva , Diseño de Equipo , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Prospectivos , Desprendimiento de Retina/diagnóstico , Líquido Subretiniano , Técnicas de Sutura
15.
Mol Reprod Dev ; 83(9): 768-779, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27434785

RESUMEN

Methoxychlor (MXC) is used worldwide against insects and other pests. This organochlorine pesticide acts as a xenoestrogen, promotes oxidative stress, and is considered cytotoxic and genotoxic, causing abortions and stillbirths in females. Mechanistically related estrogens and oxidants affect oocyte meiosis, so we investigated the effects of MXC on mouse oocyte meiotic maturation. Our results showed that maturation rates of MXC-treated oocytes were lower than those of controls, which was due to abnormal spindle morphologies and DNA double-strand breaks, as confirmed by increased γ-H2AX foci. Our findings also suggest that MXC may affect oocyte quality by causing the accumulation of superoxide radicals and other reactive oxygen species, aberrant mitochondrial distribution, decreased mitochondrial membrane potential, and increased lipid peroxidation. Thus, exposure to MXC negatively affects oocyte meiotic maturation, primarily through impairments in cellular ROS metabolism. Mol. Reprod. Dev. 83: 768-779, 2016 © 2016 Wiley Periodicals, Inc.


Asunto(s)
Roturas del ADN de Doble Cadena , Meiosis/efectos de los fármacos , Metoxicloro/efectos adversos , Oocitos/metabolismo , Estrés Oxidativo/efectos de los fármacos , Superóxidos/metabolismo , Animales , Femenino , Potencial de la Membrana Mitocondrial/efectos de los fármacos , Metoxicloro/farmacología , Ratones , Ratones Endogámicos ICR , Oocitos/patología
16.
J Magn Reson Imaging ; 43(5): 1179-90, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26540374

RESUMEN

BACKGROUND: To investigate the value of intravoxel incoherent motion (IVIM) diffusion-weighted magnetic resonance imaging (DW-MRI) in predicting the early response to induction chemotherapy (IC) and chemoradiotherapy (CRT) in nasopharyngeal carcinoma (NPC). METHODS: Fifty NPC patients who received IC and CRT underwent an IVIM DW-MRI on a 1.5-Tesla MRI scanner. The pretreatment and posttreatment (20 days after IC initiation) IVIM-based parameters (ADC, D, D*, and f), and their percentage changes (△%), were compared between the effective (complete response or partial response) and ineffective (stable disease) groups based on RECIST 1.1, and between the residual and nonresidual groups. RESULTS: None of the perfusion-related parameter' values showed significant differences between the effective and ineffective groups (p values for pref, postf, △%f, preD*, postD*, and △%D* were 0.364, 0.129, 0.792, 0.804, 0.167, and 0.428, respectively), or between the residual and nonresidual groups (P values for pref, postf, △%f, preD*, postD*, and △%D* were 0.328, 0.776, 0.546, 0.558, 0.214, and 0.414, respectively). The ineffective group exhibited higher preADC, higher preD and lower △%D values than the effective group (all P < 0.001). The nonresidual group had lower preD, lower preADC and higher △%D values (all P < 0.05) than the residual group. △%D had the highest area under curve (0.859) in predicting the response to IC, whereas preD had the highest area under curve (0.841) in predicting tumor residue after CRT. CONCLUSION: Diffusion-related IVIM-based parameters might be more helpful than perfusion-related parameters in predicting the early effects of IC and CRT for NPC.


Asunto(s)
Antineoplásicos/química , Quimioradioterapia/métodos , Imagen de Difusión por Resonancia Magnética , Quimioterapia de Inducción/métodos , Neoplasias Nasofaríngeas/tratamiento farmacológico , Neoplasias Nasofaríngeas/radioterapia , Adulto , Anciano , Área Bajo la Curva , Carcinoma , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Movimiento (Física) , Carcinoma Nasofaríngeo , Variaciones Dependientes del Observador , Perfusión , Estudios Prospectivos , Reproducibilidad de los Resultados
18.
J Comput Assist Tomogr ; 40(3): 413-8, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26953769

RESUMEN

OBJECTIVE: The aim of the study was to investigate the utility of intravoxel incoherent motion (IVIM) diffusion-weighted magnetic resonance imaging (DWI) for differentiating nasopharyngeal carcinoma (NPC) from lymphoma. METHODS: Intravoxel incoherent motion-based parameters including the apparent diffusion coefficient (ADC), pure diffusion coefficient (D), pseudodiffusion coefficient (D*), perfusion fraction (f), and fD* (the product of D* and f) were retrospectively compared between 102 patients (82 with NPC, 20 with lymphoma) who received pretreatment IVIM DWI. RESULTS: Compared with lymphoma, NPC exhibited higher ADC, D, D*, fD* values (P < 0.001) and f value (P = 0.047). The optimal cutoff values (area under the curve, sensitivity, and specificity, respectively) for distinguishing the 2 tumors were as follows: ADC value of 0.761 × 10 mm/s (0.781, 93.90%, 55.00%); D, 0.66 × 10 mm/s (0.802, 54.88%, 100.00%); D*, 7.89 × 10 mm/s (0.898, 82.93%, 85.00%); f, 0.29 (0.644, 41.46%, 95.00%); and fD*, 1.99 × 10 mm/s (0.960, 85.37%, 100.00%). CONCLUSIONS: Nasopharyngeal carcinoma exhibits different IVIM-based imaging features from lymphoma. Intravoxel incoherent motion DWI is useful for differentiating lymphoma from NPC.


Asunto(s)
Imagen de Difusión por Resonancia Magnética , Aumento de la Imagen , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional/métodos , Linfoma/diagnóstico por imagen , Neoplasias Nasofaríngeas/diagnóstico por imagen , Algoritmos , Diagnóstico Diferencial , Humanos , Movimiento (Física) , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Carga Tumoral
19.
Retina ; 36(8): 1480-5, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26807630

RESUMEN

PURPOSE: To report the management of complicated advanced familial exudative vitreoretinopathy in a predominantly young population. METHODS: This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced familial exudative vitreoretinopathy, including retinal detachment, corneal opacity, shallow or flat anterior chamber, cataract, posterior pupillary adhesion, secondary glaucoma, vitreous hemorrhage, and preretinal hemorrhage. Preoperative and postoperative clinical information was reviewed. RESULTS: The average age of the patients was 3.52 ± 5.94 years. Of the 34 eyes, 22 underwent lensectomy, 9 underwent lensectomy combined with vitrectomy, 2 underwent staged lensectomy and vitrectomy, and 1 underwent lens-sparing vitrectomy. After surgery, the shallow or flat anterior chamber became normal in 26/28 eyes; corneal opacity disappeared or improved in 10/22 eyes; and secondary glaucoma was controlled in 22/24 eyes. Among the 12 eyes operated by vitrectomy, the retina was attached in 5 eyes and partly attached in 7. Final visual acuity ranged from no light perception to 30/200 (n = 17). All 5 eyes with preoperative and postoperative visual acuity records showed improvement. CONCLUSION: Surgical intervention is recommended to resolve complications of advanced familial exudative vitreoretinopathy and to preserve visual function. Staged lensectomy and vitrectomy is an alternative for advanced familial exudative vitreoretinopathy with corneal complications and/or vascularly active fibrovascular proliferation.


Asunto(s)
Oftalmopatías/cirugía , Enfermedades de la Retina/cirugía , Adolescente , Adulto , Cámara Anterior/patología , Catarata/etiología , Extracción de Catarata , Niño , Preescolar , Opacidad de la Córnea/etiología , Opacidad de la Córnea/cirugía , Oftalmopatías/etiología , Oftalmopatías/fisiopatología , Enfermedades Hereditarias del Ojo , Vitreorretinopatías Exudativas Familiares , Femenino , Angiografía con Fluoresceína , Glaucoma/etiología , Glaucoma/cirugía , Humanos , Lactante , Masculino , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Enfermedades de la Retina/complicaciones , Enfermedades de la Retina/fisiopatología , Hemorragia Retiniana/etiología , Hemorragia Retiniana/cirugía , Estudios Retrospectivos , Agudeza Visual/fisiología , Vitrectomía , Hemorragia Vítrea/etiología , Hemorragia Vítrea/cirugía , Adulto Joven
20.
J Insect Sci ; 152015.
Artículo en Inglés | MEDLINE | ID: mdl-25843592

RESUMEN

We found that Pantana phyllostachysae, a dangerous pest of moso bamboo (Phyllostachys pubescens), showed differences in growth and development after feeding on diverse types of moso bamboo leaves. The mortality rate of Pa. phyllostachysae due to Beauveria bassiana, an entomopathogenic fungus, was also affected by the varied larval diet. Larval and pupal developmental duration of Pa. phyllostachysae was longer when feeding on "off-year" bamboo leaves. Pupal weight and adult fertility were higher when feeding on "on-year" bamboo leaves. Mortality due to B. bassiana was significantly lower in larvae fed on on-year bamboo leaves than in larvae fed on off-year bamboo leaves. Larvae fed on new bamboo leaves had a shorter development period and higher survival rate than those fed on off-year bamboo leaves. However, mixed feed (mixture of new, on-year, and off-year bamboo leaves) decreased the egg production of Pa. phyllostachysae. After infection by the second generation of B. bassiana, the survival time of Pa. phyllostachysae fed on mixed feed increased significantly compared with the first generation. We also fed Pa. phyllostachysae different proportion of new bamboo leaves in mixed feed to simulate natural conditions. We found that increasing the proportion of new bamboo leaves in the food promoted pupal development and increased egg production; it also increased the resistance of larvae to the first generation of B. bassiana. The pathogenicity of the second generation of B. bassiana declined in all mixed feed treatments.


Asunto(s)
Beauveria/fisiología , Cadena Alimentaria , Mariposas Nocturnas/microbiología , Mariposas Nocturnas/fisiología , Poaceae/fisiología , Animales , China , Conducta Alimentaria , Larva/crecimiento & desarrollo , Larva/microbiología , Larva/fisiología , Mariposas Nocturnas/crecimiento & desarrollo , Control Biológico de Vectores , Hojas de la Planta/fisiología , Dinámica Poblacional
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