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1.
Int J Ophthalmol ; 16(9): 1465-1474, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37724283

RESUMO

AIM: To evaluate the effects of LIN28A (human) on high glucose-induced retinal pigmented epithelium (RPE) cell injury and its possible mechanism. METHODS: Diabetic retinopathy model was generated following 48h of exposure to 30 mmol/L high glucose (HG) in ARPE-19 cells. Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot tested the expression of the corresponding genes and proteins. Cell viability as well as apoptosis was determined through cell counting kit-8 (CCK-8) and flow cytometry assays. Immunofluorescence assay was adopted to evaluate autophagy activity. Caspase 3 activity, oxidative stress markers, and cytokines were appraised adopting their commercial kits, respectively. Finally, ARPE-19 cells were preincubated with EX527, a Sirtuin 1 (SIRT1) inhibitor, prior to HG stimulation to validate the regulatory mechanism. RESULTS: LIN28A was downregulated in HG-challenged ARPE-19 cells. LIN28A overexpression greatly inhibited HG-induced ARPE-19 cell viability loss, apoptosis, oxidative damage as well as inflammatory response. Meanwhile, the repressed autophagy and SIRT1 in ARPE-19 cells challenged with HG were elevated after LIN28A overexpression. In addition, treatment of EX527 greatly inhibited the activated autophagy following LIN28A overexpression and partly abolished the protective role of LIN28A against HG-elicited apoptosis, oxidative damage as well as inflammation in ARPE-19 cells. CONCLUSION: LIN28A exerts a protective role against HG-elicited RPE oxidative damage, inflammation, as well as apoptosis via regulating SIRT1/autophagy.

2.
Hum Mutat ; 43(12): 2141-2152, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36208099

RESUMO

ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype-phenotype correlation has not been established. Potentially pathogenic ADAMTSL4 variants were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing followed by multiple bioinformatics analyses. The genotype-phenotype correlation was assessed via a systematic review of ADAMTSL4 variants within our data and those from the literature. A total of 12 variants of ADAMTSL4, including seven frameshift variants, one nonsense variant, two splicing variants, and two missense variants, were found in nine probands. Combing genetic and clinical information from 72 probands in the literature revealed 37 ADAMTSL4 variants known to cause EL, and the ethnic difference was prominent. The lens was inclined to dislocate inferior temporally (22, 27.16%), while the pupil was always located oppositely (9, 81.82%). Several anterior segments anomalies were identified, including ectopia pupillae (15, 18.52%), persistent pupillary membrane (9, 11.10%), poor pupil dilation (4, 30.8%), cataract (13, 24.10%), and glaucoma (8, 13.33%). Genotype-phenotype analysis revealed that truncation variants had higher risks of combined iris anomalies, including either ectopia pupillae or a persistent pupillary membrane (p = 0.007). The data from this study not only extend our knowledge of the ADAMTSL4 variant spectrum but also suggest that deleterious variants of ADAMTSL4 might be associated with severe ocular phenotypes.


Assuntos
Catarata , Ectopia do Cristalino , Glaucoma , Humanos , População do Leste Asiático , Linhagem , Proteínas ADAMTS/genética , Mutação , Ectopia do Cristalino/genética , Ectopia do Cristalino/patologia , Catarata/genética
3.
Int J Mol Sci ; 23(17)2022 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-36077556

RESUMO

Long terminal repeat (LTR)-retrotransposons (LTR-RTs) comprise a major portion of many plant genomes and may exert a profound impact on genome structure, function, and evolution. Although many studies have focused on these elements in an individual species, their dynamics on a family level remains elusive. Here, we investigated the abundance, evolutionary dynamics, and impact on associated genes of LTR-RTs in 16 species in an economically important plant family, Cucurbitaceae. Results showed that full-length LTR-RT numbers and LTR-RT content varied greatly among different species, and they were highly correlated with genome size. Most of the full-length LTR-RTs were amplified after the speciation event, reflecting the ongoing rapid evolution of these genomes. LTR-RTs highly contributed to genome size variation via species-specific distinct proliferations. The Angela and Tekay lineages with a greater evolutionary age were amplified in Trichosanthes anguina, whereas a recent activity burst of Reina and another ancient round of Tekay activity burst were examined in Sechium edule. In addition, Tekay and Retand lineages belonging to the Gypsy superfamily underwent a recent burst in Gynostemma pentaphyllum. Detailed investigation of genes with intronic and promoter LTR-RT insertion showed diverse functions, but the term of metabolism was enriched in most species. Further gene expression analysis in G.pentaphyllum revealed that the LTR-RTs within introns suppress the corresponding gene expression, whereas the LTR-RTs within promoters exert a complex influence on the downstream gene expression, with the main function of promoting gene expression. This study provides novel insights into the organization, evolution, and function of LTR-RTs in Cucurbitaceae genomes.


Assuntos
Evolução Molecular , Retroelementos , Tamanho do Genoma , Genoma de Planta , Filogenia , Retroelementos/genética , Sequências Repetidas Terminais/genética
4.
Front Med (Lausanne) ; 9: 732452, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35665341

RESUMO

Objective: The aim of this study was to examine the biometric ocular manifestations and structural ocular features of anterior megalophthalmos (AM). Methods: Fifteen patients with AM (30 eyes) from the Eye & ENT Hospital of Fudan University were included. The age-matched control group consisted of 30 participants (30 eyes) who underwent Pentacam HR and IOLMaster 700 measurements for one normal eye. Data on demographics, biometric manifestations, and genotypes were carefully compared. Results: A total of 15 patients with AM and 30 control patients were enrolled. There were no differences in age (37.27 ± 19.1 vs. 31.43 ± 19.69 years, P = 0.249) between these two groups. AM eyes were characterized by premature cataracts (11/30, 36.67%) and zonular weakness with lens subluxation (22/30, 73.33%) compared with the control group. Notably, 20 of the 30 AM eyes (66.67%) had significant posterior iris bowing, and 16 of the 30 AM eyes (53.33%) showed an enlarged ciliary ring on ultrasound biomicroscopy (UBM). Mean corneal curvature was lower in the AM eyes (42.01 ± 2.06 D vs. 43.14 ± 1.38 D, P = 0.023). There was no significant difference in corneal pachymetry and central endothelial cell count between the AM and control groups. Significant differences were found in terms of the anterior chamber and white-to-white (WTW) among the Pentacam HR and IOLMaster 700 in patients with AM (P < 0.05). The difference was 0.53 ± 0.48 mm and 0.36 ± 0.14 mm, respectively (P < 0.001). Conclusion: The results of this cohort study conclude the biometric and structural ocular manifestations in Chinese cohorts. Posterior iris bowing (66.67%) and lens subluxation (73.33%) are the most characteristic findings in patients with AM with anatomical abnormalities of megalocornea and a deep anterior chamber, although corneal biometric manifestations of AM included flatter cornea and lower total corneal astigmatism. The knowledge of ocular manifestations of AM is important for diagnosis and preparation for the operation in advance to avoid intraoperative and postoperative complications. Significant differences were found in the anterior chamber and WTW values between the Pentacam HR and IOLMaster 700. Thus, we suggest that various examinations should be carefully considered before determining an AM diagnosis.

5.
Front Med (Lausanne) ; 9: 869539, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35492301

RESUMO

Background: Microspherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule. Methods: This study included MSP eyes managed with phacoemulsification combined with supra-capsular and scleral-fixated intraocular lens implantation (SCSF-IOL) and made the comparison with those treated by transscleral-fixated modified capsular tension ring and in-the-bag intraocular lens implantation (MCTR-IOL). Results: A total of 20 MSP patients underwent SCSF-IOL, and 17 patients received MCTR-IOL. The postoperative best corrected visual acuity was significantly improved in both groups (P < 0.001), but no difference was found between the groups (P = 0.326). The IOL tilt was also comparable (P = 0.216). Prophylactic Nd:YAG laser posterior capsulotomy was performed 1 week to 1 month after the SCSF-IOL procedure. In the SCSF-IOL group, two eyes (10.00%) needed repeated laser treatment and one eye (5.00%) had a decentered capsule opening. Posterior capsule opacification was the most common complication (6, 35.29%) in the MCTR group. No IOL dislocation, secondary glaucoma, or retinal detachment was observed during follow-up. Conclusions: SCSF-IOL is a viable option for managing MSP and is comparable with the MCTR-IOL. Nd:YAG laser posterior capsulotomy was necessary to prevent residual capsule complications after the SCSF-IOL procedure.

6.
Ophthalmol Ther ; 11(2): 689-699, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35107814

RESUMO

PURPOSE: To evaluate the prognosis of patients with blunt trauma-mediated cyclodialysis cleft and lens subluxation treated by dual capsular tension rings (CTRs) with different preoperative intraocular pressures (IOPs). METHODS: Twenty-five patients with cyclodialysis cleft and lens subluxation after blunt trauma were recruited in this study. They were categorized into the low IOP group (IOP < 10 mmHg) and normal IOP group (between 10 mm and 21 mmHg). A modified CTR (MCTR) or CTR was sutured into the ciliary sulcus, and another MCTR or CTR was implanted in the capsular bag. The prognosis outcome measurements, including BCVA (LogMAR), IOP, UBM, and macular character on OCT, were collected during the regular outpatient follow-up after surgery until the recovery of cyclodialysis cleft was found. Measures of cyclodialysis cleft recovery included successful IOP control (defined as an IOP within 10-21 mmHg), confirmation of cleft closure on UBM, and confirmation of IOL centration under slit-lamp examination. Follow-up period or recovery time was regarded as the duration between discharge from the hospital after the operation and the recovery of cyclodialysis cleft. The longest follow-up period was 1 year. RESULTS: Cyclodialysis cleft was successfully treated in 21/25 eyes, whereas lens subluxation was treated effectively in all 25 eyes. CTRs and IOLs were stable in all eyes. BCVA (P < 0.001) and IOP (P < 0.001) were significantly improved after surgery. The primary surgical complication included reversible IOP spike in seven eyes. Postoperative BCVA was found to have correlation with the preoperative IOP (P = 0.016), maculopathy (P = 0.002,), and trauma duration (P = 0.046). Worse BCVA (P = 0.037) and more severe grade of maculopathy (P = 0.030) were observed in the low IOP group (14 eyes). In contrast, a better prognosis and greater probability of IOP spike (P = 0.021) were observed in the normal IOP group (11 eyes). CONCLUSION: Timely and proper intervention for traumatic cyclodialysis cleft associated with lens subluxation is essential. Lower preoperative IOP is associated with worse prognosis and prolonged recovery time, while caution should be taken in IOP spike monitoring in patients with normal preoperative IOP.

7.
Int J Gen Med ; 15: 1295-1306, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35173468

RESUMO

AIM: To analyze the association between ROCK2 gene polymorphism/expression and susceptibility/prognosis of hepatocellular carcinoma (HCC). METHODS: Peripheral venous blood from 204 hepatocellular carcinoma patients (HCC group), 242 chronic hepatitis B patients (CHB group), 215 liver cirrhosis patients (LC group) and 201 healthy volunteers (normal group) were collected. ROCK2 gene (including the rs9808232 locus) was amplified by PCR and the products were sequenced. Tumor tissues from patients with HCC and liver tissues from CHB, LC and normal groups were collected, and mRNA and protein expression of ROCK2 gene in liver tissues were tested by RT-qPCR and immunofluorescence, respectively. RESULTS: Compared with the normal group, the mRNA and protein expression levels of ROCK2 in the HCC group increased significantly (P < 0.05), but there are no obvious increases in the CHB and LC groups (P > 0.05). ROCK2 gene rs9808232 polymorphism was associated with an increased susceptibility of HCC, and genotypes AC and CC may be risk factors for HCC (P < 0.001). There was a significant association between the ROCK2 gene rs9808232 polymorphism and the route of metastasis in HCC patients (P < 0.05). According to the Kaplan-Meier analysis, the overall survival of patients with AC and CC genotypes of ROCK2 rs9808232 was much shorter than that of patients with AA genotype (median overall survival, 25.5 months vs 16.0 months; Log rank P = 0.006). The overall survival time of patients with high ROCK2 expression is much shorter than that of patients with low ROCK2 expression (median overall survival time, 15.0 months vs 20.5 months; Log rank P = 0.008). Compared with genotype AA, the ROCK2 protein levels of genotypes AC and CC were distinctly increased in the HCC group, especially genotype CC (P< 0.05). CONCLUSION: ROCK2 gene rs9808232 polymorphism may contribute to its expression in liver tissue, which may increase the susceptibility and poor prognosis of HCC.

8.
Br J Ophthalmol ; 106(12): 1655-1661, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-34281902

RESUMO

AIMS: To identify the mutation spectrum and genotype-phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL). METHODS: Patients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype-phenotype correlation. RESULTS: A total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22-42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017). CONCLUSIONS: This study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.


Assuntos
Ectopia do Cristalino , Síndrome de Marfan , Humanos , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/genética , Fibrilina-1/genética , Fibrilinas/genética , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Proteínas dos Microfilamentos/química , Fenótipo , Mutação , Genótipo , China/epidemiologia , Análise Mutacional de DNA
9.
Am J Ophthalmol ; 237: 278-289, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34818515

RESUMO

PURPOSE: To evaluate the diagnostic yield of congenital ectopia lentis (EL) in a Chinese cohort by combining panel-based next-generation sequencing with clinical findings. DESIGN: A cohort study. METHODS: In total, 175 patients with congenital EL and their available family members (n = 338) were enrolled. All patients with congenital EL underwent genetic testing. Genotype-phenotype analyses were conducted to assess the biometric and structural ocular manifestations of congenital EL. RESULTS: In total, 175 patients with congenital EL and 338 of their relatives were included in this study. In these patients, 92.57% (162 of 175) of disease-related variants were detected in FBN1 (83.43%), CPAMD8 (1.71%), COL4A5 (0.57%), ADAMTSL4 (3.43%), LTBP2 (1.71%), and CBS (2.29%). Based on genetic and clinical findings, the primary diagnostic rate was increased to 40.57% from 19.43% with the exception of the 91 diagnoses of potential Marfan syndrome, with a new diagnostic strategy for congenital EL, thus having been developed. Within this group of patients harboring FBN1 mutations, 16.44% (19 of 141) probands were diagnosed with EL syndrome and 2.13% (3 of 141) were diagnosed with Marfan syndrome. CONCLUSIONS: The results of this cohort study expand the genomic landscape associated with congenital EL in Chinese cohorts. FBN1 mutations represent the most common cause of congenital EL in this population, and we have developed a new diagnostic strategy for congenital EL subtypes via the use of a well-designed panel-based next-generation sequencing that can be used to efficiently and precisely diagnose patients with congenital EL in a cost-effective manner.


Assuntos
Ectopia do Cristalino , Síndrome de Marfan , China/epidemiologia , Estudos de Coortes , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/genética , Fibrilina-1/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Proteínas de Ligação a TGF-beta Latente/genética , Síndrome de Marfan/complicações , Mutação , Linhagem , Fenótipo
10.
Hum Mutat ; 42(12): 1637-1647, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34550612

RESUMO

Mutations of fibrillin-1 (FBN1) have been associated with Marfan syndrome and pleiotropic connective tissue disorders, collectively termed as "type I fibrillinopathy". However, few genotype-phenotype correlations are known in the ocular system. Patients with congenital ectopia lentis (EL) received panel-based next-generation sequencing, complemented with multiplex ligation-dependent probe amplification. In a total of 125 probands, the ocular phenotypes were compared for different types of FBN1 mutations. Premature termination codons were associated with less severe EL and a thinner central corneal thickness (CCT) than the inframe mutations. The eyes of patients with mutations in the C-terminal region had a higher incidence of posterior staphyloma than those in the middle and N-terminal regions. Mutations in the TGF-ß-regulating sequence had larger horizontal corneal diameters (white-to-white [WTW]), higher incidence of posterior staphyloma, but less severe EL than those with mutations in other regions. Mutations in the neonatal region were associated with thinner CCT. Longer axial length (AL) was associated with mutations in the C-terminal region or TGF-ß regulating sequence after adjusting for age, EL severity, and corneal curvature radius. FBN1 genotype-phenotype correlations were established for some ocular features, including EL severity, AL, WTW, CCT, and so forth, providing novel perspectives and directions for further mechanistic studies.


Assuntos
Ectopia do Cristalino , Síndrome de Marfan , Ectopia do Cristalino/genética , Fibrilina-1/genética , Fibrilinas/genética , Genótipo , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Mutação , Fenótipo
11.
Hortic Res ; 8(1): 198, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34465747

RESUMO

DNA methylation is a crucial regulatory mechanism in many biological processes. However, limited studies have dissected the contribution of DNA methylation to sexual differentiation in dioecious plants. In this study, we investigated the variances in methylation and transcriptional patterns of male and female flowers of garden asparagus. Compared with male flowers, female flowers at the same stages showed higher levels of DNA methylation. Both male and female flowers gained DNA methylation globally from the premeiotic to meiotic stages. Detailed analysis revealed that the increased DNA methylation was largely due to increased CHH methylation. Correlation analysis of differentially expressed genes and differentially methylated regions suggested that DNA methylation might not have contributed to the expression variation of the sex-determining genes SOFF and TDF1 but probably played important roles in sexual differentiation and flower development of garden asparagus. The upregulated genes AoMS1, AoLAP3, AoAMS, and AoLAP5 with varied methylated CHH regions might have been involved in sexual differentiation and flower development of garden asparagus. Plant hormone signaling genes and transcription factor genes also participated in sexual differentiation and flower development with potential epigenetic regulation. In addition, the CG and CHG methylation levels in the Y chromosome were notably higher than those in the X chromosome, implying that DNA methylation might have been involved in Y chromosome evolution. These data provide insights into the epigenetic modification of sexual differentiation and flower development and improve our understanding of sex chromosome evolution in garden asparagus.

12.
Photodiagnosis Photodyn Ther ; 34: 102310, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33901690

RESUMO

BACKGROUND: Antimicrobial photodynamic therapy (aPDT) using methylene blue (MB) plus potassium iodide (KI) has been shown to be effective in killing Candida albicans in many in vitro and in vivo studies, however, there are limited reports of clinical investigations. This study aimed to explore the clinical application of aPDT with MB plus KI for the treatment of oral infection caused by C. albicans in adult acquired immune deficiency syndrome (AIDS) patients. METHODS: A total of 21 adult AIDS patients with C. albicans oral candidiasis were divided into two groups according to MB concentration and received two consecutive aPDT treatments. Immediately before and after the aPDT treatments, C. albicans yeast isolates were recovered to measure the colony-forming units per mL (CFU/mL), biofilm formation, and to analyze the 25S rDNA genotype. Patients were assessed for the clinical recovery of oral lesions and improvement of symptoms. RESULTS: The Log10 CFU/mL of C. albicans decreased significantly after the second aPDT but not the first aPDT. There was no significant difference between the two MB concentrations. Both aPDT protocols decreased the oral lesions and clinical symptoms with no significant difference after 2-fraction aPDT. The biofilm formation of C. albicans isolates did not change before and after aPDT. The killing efficiency of 2-fraction-aPDT was not associated with either biofilm formation or 25S rDNA genotype. CONCLUSIONS: Two-fraction-aPDT with MB plus KI could reduce the number of viable C. albicans fungal cells and improve the clinical symptoms of oral candidiasis in adult AIDS patients, regardless of the biofilm formation or 25S rDNA genotype of infected C. albicans isolates.


Assuntos
Síndrome da Imunodeficiência Adquirida , Anti-Infecciosos , Candidíase Bucal , Fotoquimioterapia , Síndrome da Imunodeficiência Adquirida/complicações , Síndrome da Imunodeficiência Adquirida/tratamento farmacológico , Adulto , Anti-Infecciosos/uso terapêutico , Biofilmes , Candida albicans , Candidíase Bucal/tratamento farmacológico , Humanos , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/farmacologia , Fármacos Fotossensibilizantes/uso terapêutico
13.
Clin Invest Med ; 44(4): E46-54, 2021 12 31.
Artigo em Inglês | MEDLINE | ID: mdl-34978773

RESUMO

PURPOSE: To evaluate the distribution of the posterior-anterior corneal radius ratio (B/F ratio; posterior corneal radius/anterior corneal radius) in patients without corneal abnormalities, and to investigate which parameters affect this ratio. METHODS: Five thousand eyes from 5,000 patients who underwent cataract surgery were recruited to this study. We explored the linear relationship between B/F ratio and 13 variables using Principal Component-Multivariate Linear Regression Analysis. RESULTS: The B/F ratio was negatively correlated with the difference between simulated keratometry (SimK) and true net power (TNP), central corneal thickness, spherical aberration (SA), and posterior corneal astigmatism and positively correlated with posterior corneal radius, corneal posterior surface, axial length (AL) and anterior corneal radius. Several variables (central corneal thickness, difference between SimK and TNP and asphericity coefficient (Q-value) of the posterior corneal surface) had the highest loading on the final score. B/F ratio reflects the refractive state and anatomical structure of the cornea: thus, higher B/F ratios were associated with larger posterior corneal surface curvature radius, longer axial length, thinner central corneal thickness, lower high order aberrations of the cornea and SA, and the numerical difference between simK and TNP gradually reduced. In clinical practice, for patients with lower B/F ratio, special care should be taken in the choice of system used for intraocular lens (IOL) measurements.


Assuntos
Astigmatismo , Catarata , Lentes Intraoculares , Humanos , Implante de Lente Intraocular , Refração Ocular
14.
Front Med (Lausanne) ; 8: 738745, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35096854

RESUMO

PURPOSE: To evaluate the clinical characteristics and ocular features of patients with acute secondary angle closure, associated with lens subluxation (ASAC-LS). METHODS: We performed a retrospective study at the EENT Hospital of Fudan University, Shanghai, China. A total of 41 affected eyes from 41 patients were enrolled in this study. Furthermore, 20 affected eyes were part of the ASAC-LS cohort and 21 affected eyes were included in the acute primary angle closure (APAC) cohort. The best-corrected visual acuity (BCVA), intraocular pressure (IOP), axial length (AL), minimum corneal curvature (K1), maximum corneal curvature (K2), and anterior chamber depth (ACD) were measured and compared between the 2 cohorts. In addition, inter-eye (intraindividual) comparison was performed. RESULTS: The ASAC-LS cohort exhibited younger ages, more frequent trauma history (35%), lower IOP (27.43 ± 13.86 mmHg vs. 41.27 ± 10.36 mmHg), longer AL (23.96 ± 2.60 vs. 22.49 ± 0.77 mm), shallower ACD (1.28 ± 0.38 vs. 1.58 ± 0.23 mm), and bigger ACD differences (0.99 ± 0.52 vs. 0.15 ± 0.19 mm), as compared with the APAC cohort (all p < 0.05). Moreover, eyes from the lens subluxation cohort experienced worse BCVA, higher IOP, and shallower ACD than their matched unaffected eyes (all p < 0.05). Although longer AL, shallower ACD, and bigger ACD differences were strongly correlated with lens subluxation in a univariate logistic regression analysis, only the ACD difference remained significant in the multivariate model (p = 0.004, OR = 1,510.50). Additionally, according to the receiver operating characteristic (ROC) curve analysis, both ACD and ACD differences had greater value in the differential diagnosis of ASAC-LS and APAC, with a cut-off value of 1.4 and 0.63 mm, respectively. CONCLUSIONS: Shallower ACD and larger ACD differences provide the promising diagnostic potential for patients with ASAC-LS.

15.
Eye Vis (Lond) ; 7(1): 54, 2020 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-33292678

RESUMO

BACKGROUND: To evaluate the efficacy and safety of placing dual capsular tension rings for the combined management of traumatic cyclodialysis cleft and zonular dialysis. METHODS: A modified capsular tension ring was inserted into the ciliary sulcus and a capsular tension ring or modified capsular tension ring was inserted into the capsular bag in 20 eyes in 20 consecutive patients showing signs of ocular hypotony and ectopia lentis. Outcome measures included intraocular pressure, best-corrected visual acuity, and postoperative complications. RESULTS: Dual capsular tension ring placement was performed in 20 patients with a mean age of 48.7 years. The cyclodialysis cleft extended over 2.9 clock hours (range 0.5-6.5). The modified capsular tension ring was successfully inserted into the ciliary sulcus and a capsular tension ring or modified capsular tension ring in the capsular bag in all eyes. At the last follow-up, the cyclodialysis cleft was closed in 16/20 (80.0%) eyes. The intraocular lens was stable in all patients postoperatively. Best-corrected visual acuity, in terms of the logarithm of the minimal angle of resolution, improved from 1.3 ± 0.8 before surgery to 0.4 ± 0.3 after surgery (P < 0.001). Intraocular pressure increased significantly from 10.6 ± 3.2 mmHg before surgery to 13.0 ± 4.8 mmHg after surgery (P = 0.040). Postoperative complications included a painful reversible intraocular pressure spike in four patients (20.0%). Logistic regression revealed no significant factors associated with successful cleft closure and a stable final intraocular pressure of ≥ 10 mmHg. CONCLUSIONS: The placement of two capsular tension rings into the ciliary sulcus and the capsular bag is a safe, successful procedure combined for repairing a traumatic cyclodialysis cleft and managing zonular dialysis.

16.
Hortic Res ; 7(1): 48, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32257234

RESUMO

Asparagus setaceus is a popular ornamental plant cultivated in tropical and subtropical regions globally. Here, we constructed a chromosome-scale reference genome of A. setaceus to facilitate the investigation of its genome characteristics and evolution. Using a combination of Nanopore long reads, Illumina short reads, 10× Genomics linked reads, and Hi-C data, we generated a high-quality genome assembly of A. setaceus covering 710.15 Mb, accounting for 98.63% of the estimated genome size. A total of 96.85% of the sequences were anchored to ten superscaffolds corresponding to the ten chromosomes. The genome of A. setaceus was predicted to contain 28,410 genes, 25,649 (90.28%) of which were functionally annotated. A total of 65.59% of the genome was occupied by repetitive sequences, among which long terminal repeats were predominant (42.51% of the whole genome). Evolutionary analysis revealed an estimated divergence time of A. setaceus from its close relative A. officinalis of ~9.66 million years ago, and A. setaceus underwent two rounds of whole-genome duplication. In addition, 762 specific gene families, 96 positively selected genes, and 76 resistance (R) genes were detected and functionally predicted in A. setaceus. These findings provide new knowledge about the characteristics and evolution of the A. setaceus genome, and will facilitate comparative genetic and genomic research on the genus Asparagus.

17.
Int J Mol Sci ; 21(3)2020 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-31973163

RESUMO

The transfer of genetic material from the mitochondria and plastid to the nucleus gives rise to nuclear integrants of mitochondrial DNA (NUMTs) and nuclear integrants of plastid DNA (NUPTs). This frequently occurring DNA transfer is ongoing and has important evolutionary implications. In this review, based on previous studies and the analysis of NUMT/NUPT insertions of more than 200 sequenced plant genomes, we analyzed and summarized the general features of NUMTs/NUPTs and highlighted the genetic consequence of organellar DNA insertions. The statistics of organellar DNA integrants among various plant genomes revealed that organellar DNA-derived sequence content is positively correlated with the nuclear genome size. After integration, the nuclear organellar DNA could undergo different fates, including elimination, mutation, rearrangement, fragmentation, and proliferation. The integrated organellar DNAs play important roles in increasing genetic diversity, promoting gene and genome evolution, and are involved in sex chromosome evolution in dioecious plants. The integrating mechanisms, involving non-homologous end joining at double-strand breaks were also discussed.


Assuntos
Núcleo Celular/genética , Evolução Molecular , Genoma de Planta , Plantas/genética , Plastídeos/genética , Proliferação de Células/genética , Reparo do DNA por Junção de Extremidades , DNA de Cloroplastos/genética , DNA Mitocondrial/genética , Tamanho do Genoma , Mitocôndrias/genética , Mutação , Cromossomos Sexuais
18.
BMJ Open ; 9(11): e024393, 2019 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-31678932

RESUMO

OBJECTIVE: This study investigated the association between syphilis seroprevalence and age among blood donors, and described the distribution of serological titres among syphilis-infected donors, aiming to confirm the syphilis epidemic characteristics and to promote effective interventions for older adults. METHODS: Data were obtained from the Shenzhen Programme for Syphilis Prevention and Control in 2014-2017. Blood samples were screened using the ELISAs, and confirmed using the Treponema pallidum particle agglutination assay (TPPA) and toluidine red unheated serum test (TRUST). RESULTS: Among 394 792 blood donors, 733 tested TPPA and TRUST positive (active infection), and 728 tested only TPPA positive (historical infection). The overall prevalence of syphilis seropositivity was 370.1 per 100 000 (95% CI 351.1 to 389.0 per 100 000); the prevalence of active infection was 185.7 per 100 000 (95% CI 172.2 to 199.1 per 100 000). People aged ≥45 years displayed a prevalence of 621.8 per 100 000 in syphilis seropositivity and 280.5 per 100 000 in active infection, which were 3.8 times and 2.4 times higher than that for people aged <25 years, respectively. The prevalence of syphilis seropositivity (χ2trend=311.9, p trend<0.001) and active infection (χ2trend=72.1, p trend<0.001) increased significantly with age. After stratification by gender and year of donation, the increasing trend of prevalence with age remained (p trend<0.05), except for the prevalence of active infection in males and females in 2014. About 16.3% of donors with active infection and aged ≥45 years had a TRUST titre of ≥1∶8, lower than that of patients aged <25 years (51.3%) and 25-34 years (34.1%). CONCLUSIONS: The findings confirm the high prevalence of syphilis among older adults, and suggest the need to increase awareness among healthcare providers and deliver more targeted prevention interventions for older adults to promote early testing.


Assuntos
Anticorpos Antibacterianos/análise , Doadores de Sangue , Programas de Rastreamento/métodos , Estudos Soroepidemiológicos , Sífilis/epidemiologia , Treponema pallidum/imunologia , Adulto , Fatores Etários , China/epidemiologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Sífilis/imunologia , Sífilis/microbiologia
19.
PLoS One ; 13(10): e0205808, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30321243

RESUMO

OBJECTIVE: To estimate the prevalence of childhood maltreatment among college students in China by a systematic review and meta-analysis. METHODS: A systematic search of relevant articles in Pubmed, Wanfang Data, Chinese Scientific Journals Fulltext Database (CQVIP), China National Knowledge Infrastructure (CNKI) and China Biology Medicine disc (CBMdisc) was conducted on September 1, 2017. A random-effects model was used to estimate the pooled prevalence and sources of heterogeneity were explored using subgroup analyses. RESULTS: In total, 32 studies were included in our review. The pooled prevalence of childhood maltreatment among college students was 64.7% (CI: 52.3%-75.6%). For childhood physical abuse(CPA), childhood emotional abuse(CEA), childhood sexual abuse(CSA), childhood physical neglect(CPN)and childhood emotional neglect (CEN), the pooled estimates were 17.4% (13.8%-21.3%), 36.7%(25.1%-49.1%), 15.7%(11.6%-20.2%), 54.9%(41.2%-68.1%) and 60.0% (45.0%-74.0%), respectively. Use of the Childhood Trauma Questionnaire (CTQ) yielded a higher pooled estimate than any other measurement tools in the subgroup analyses of CPA, CEA, CSA, CPN and CEN. The Egger's tests revealed no evidence of publication bias(P>0.05). CONCLUSIONS: Childhood maltreatment is common among college students in China. Prevention policies and programmes should be urgently developed to stop the occurrence of child maltreatment, and special attention should be paid to maltreated college students.


Assuntos
Maus-Tratos Infantis/estatística & dados numéricos , Estudantes/estatística & dados numéricos , Adolescente , Sobreviventes Adultos de Maus-Tratos Infantis/estatística & dados numéricos , Criança , Abuso Sexual na Infância/estatística & dados numéricos , China/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Universidades
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