Precise identification of somatic and germline variants in the absence of matched normal samples.

Somatic variants play a crucial role in the occurrence and progression of cancer. However, in the absence of matched normal controls, distinguishing between germline and somatic variants becomes challenging in tumor samples. The existing tumor-only genomic analysis methods either suffer from limited performance or insufficient interpretability due to an excess of features.

Recent Advances in the Heterologous Expression of Biosynthetic Gene Clusters for Marine Natural Products.

Marine natural products (MNPs) are an important source of biologically active metabolites, particularly for therapeutic agent development after terrestrial plants and nonmarine microorganisms. Sequencing technologies have revealed that the number of biosynthetic gene clusters (BGCs) in marine microorganisms and the marine environment is much higher than expected. Unfortunately, the majority of them are silent or only weakly expressed under traditional laboratory culture conditions.

Next-generation Sequencing Reveals Age-dependent Genetic Underpinnings in Lung adenocarcinoma.

: More than 40% of lung cancer patients are diagnosed at ages over 70. However, the genomic and clinical characteristics among them remain elusive. Here, we performed targeted capture sequence to characterize the mutational spectrum of Chinese lung adenocarcinoma (LUAD) patients across ages.

Liquid biopsy in diffuse large B-cell lymphoma: utility in cell origin determination and survival prediction in Chinese patients.

The utility of circulating tumor DNA (ctDNA) in classifying the cell origin of diffuse large B-cell lymphoma (DLBCL) has not been explored in the Chinese population. In this study, we aimed to investigate the genetic characteristics of DLBCL based on both tumor and ctDNA sequencing and to assess the predictive value of ctDNA in DLBCL. A targeted sequencing panel of 413 genes was applied to tumor biopsies and paired plasma samples obtained from 30 patients with DLBCL before therapeutic intervention (pretreatment).

HDAC6 regulates primordial follicle activation through mTOR signaling pathway.

Primordial follicle pool established perinatally is a non-renewable resource which determines the female fecundity in mammals. While the majority of primordial follicles in the primordial follicle pool maintain dormant state, only a few of them are activated into growing follicles in adults in each cycle. Excessive activation of the primordial follicles accelerates follicle pool consumption and leads to premature ovarian failure.

Characteristics and Management of -Mutated Diffuse Large B-Cell Lymphoma Patients.

Background/aim: TP53 mutation is recognized as a negative prognostic factor for patients with diffuse large B-cell lymphoma (DLBCL). Here, we present the characteristics of DLBCL patients following investigation of the effect of a treatment approach on survival of DLBCL patients.

Methods: A total of 44 DLBCL patients with and treated with an R-CHOP regimen were included for analysis.

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Background: Blood-based biomarker such as circulating tumor DNA (ctDNA) has emerged as a promising tool for assessment of response to immunotherapy in solid tumors; But in hematological malignances, evidences are still lacking to support its clinical utility. In current study the feasibility of ctDNA for prediction and monitoring of response to anti-PD-1 therapy in Chinese patients with relapsed or refractory classical Hodgkin lymphoma (r/r cHL) was assessed.

Methods: A total of 192 plasma samples from 75 patients with r/r cHL were collected at baseline and upon therapeutic evaluation.

Genomic Alterations and MYD88 Variant Mapping in Patients with Diffuse Large B-Cell Lymphoma and Response to Ibrutinib.

Background: Diffuse large B-cell lymphoma (DLBCL) is a clinically heterogeneous malignancy. Following front-line immunochemotherapy, 30-40% of DLBCL patients develop relapsed or refractory (r/r) disease, which can be treated with ibrutinib. It has been previously reported that MYD88 affects the response to ibrutinib in patients with r/r DLBCL.

SIRT1 facilitates primordial follicle recruitment independent of deacetylase activity through directly modulating and transcription.

In female mammals, the majority of primordial follicles (PFs) are physiologically quiescent, and only a few of them are activated and enter the growing follicle pool. Specific molecules, such as mammalian target of rapamycin (mTOR) and the serine/threonine kinase Akt (AKT), have been proven to be important for PF activation. However, how the transcription of these genes is regulated is not clear.

Clinical application of multicolour scanning laser imaging in diabetic retinopathy.

To compare the visualization of the lesions of diabetic retinopathy (DR) using multicolour scanning laser imaging (MSLI) and conventional colour fundus photography (CFP). The paired images of diabetic patients who underwent same-day MSLI and CFP examinations were reviewed. Combined multicolour (MC) images were acquired simultaneously using three laser wavelengths: blue reflectance (BR, λ = 488 nm), green reflectance (GR, λ = 518 nm) and infrared reflectance (IR, λ = 820 nm).

G protein-coupled receptor 91 signaling in diabetic retinopathy and hypoxic retinal diseases.

G protein-coupled receptor 91 (GPR91) is a succinate-specific receptor and activation of GPR91 could initiate a complex signal transduction cascade and upregulate inflammatory and pro-angiogenic cytokines. In the retina, GPR91 is predominately expressed in ganglion cells, a major cellular entity involved in the pathogenesis of diabetic retinopathy (DR) and other hypoxic retinal diseases. During the development of DR and retinopathy of prematurity (ROP), chronic hypoxia causes an increase in the levels of local succinate.

Comparison of spectral-domain optical coherence tomography for intra-retinal layers thickness measurements between healthy and diabetic eyes among Chinese adults.

Purpose: To compare intra-retinal layer thickness measurements between eyes with no or mild diabetic retinopathy (DR) and age-matched controls using Spectralis spectral-domain optical coherence tomography (SD-OCT).

Methods: Cross-sectional observational analysis study. High-resolution macular volume scans (30° * 25°) were obtained for 133 type 2 diabetes mellitus (T2DM) patients with no DR, 42 T2DM patients with mild DR and 115 healthy controls.

Transcription factors regulate GPR91-mediated expression of VEGF in hypoxia-induced retinopathy.

Hypoxia is the most important factor in the pathogenesis of diabetic retinopathy (DR). Our previous studies demonstrated that G protein-coupled receptor 91(GPR91) participated in the regulation of vascular endothelial growth factor (VEGF) secretion in DR. The present study induced OIR model in newborn rats using exposure to alternating 24-hour episodes of 50% and 12% oxygen for 14 days.

Population-based survey of prevalence, causes, and risk factors for blindness and visual impairment in an aging Chinese metropolitan population.

Aim: To assess the prevalence, causes, and risk factors for blindness and visual impairment among elderly (≥60 years of age) Chinese people in a metropolitan area of Shanghai, China.

Methods: Random cluster sampling was conducted to identify participants among residents ≥60 years of age living in the Xietu Block, Xuhui District, Shanghai, China. Presenting visual acuity (PVA) and best-corrected visual acuity (BCVA) were checked by the Early Treatment Diabetic Retinopathy Study (ETDRS) visual chart.

Rac1 modulates the formation of primordial follicles by facilitating STAT3-directed Jagged1, GDF9 and BMP15 transcription in mice.

The size of the primordial follicle pool determines the reproductive potential of mammalian females, and establishment of the pool is highly dependent on specific genes expression. However, the molecular mechanisms by which the essential genes are regulated coordinately to ensure primordial follicle assembly remain a mystery. Here, we show that the small GTPase Rac1 plays an indispensable role in controlling the formation of primordial follicles in mouse ovary.

Minocycline inhibits PARP‑1 expression and decreases apoptosis in diabetic retinopathy.

The present study aimed to investigate the mechanism underlying the effects of minocycline on diabetic retinopathy‑associated cellular apoptosis. A total of 40 Sprague Dawley (SD) rats were used as a diabetic retinopathy model following injection with streptozotocin. Among the 34 rats in which the diabetes model was successfully established, 24 rats were divided into two experimental groups: I and II (T1 and T2, respectively), and orally administered with various doses of minocycline.

Altered retinal microRNA expression profiles in early diabetic retinopathy: an in silico analysis.

Purpose: MicroRNAs (miRNAs) - as negative regulators of target genes - are associated with various human diseases, but their precise role(s) in diabetic retinopathy (DR) remains to be elucidated. The aim of this study was to elucidate the involvement of miRNAs in early DR using in silico analysis to explore their gene expression patterns.

Methods: We used the streptozotocin (STZ)-induced diabetic rat to investigate the roles of miRNAs in early DR.

[Integration sites and their characteristic analysis of piggyBac transposon in cattle genome].

As a useful tool for genetic engineering, piggyBac (PB) transposons have been widely used in more than one species of transgenosis or generating mutation studies. At present, the studies about PB transposons in cattle were few. In order to get the PB transposon integration sites and summarize its characteristics in bovine genome, donor plasmid of PB[CMV-EGFP] and helper-dependent plasmid of pcDNA-PBase were constructed and transferred into bovine fibroblasts by Amaxa basic nucleofector kit for primary mammalian fibroblasts.

Lentivirus-mediated sFlt-1 gene fragment transfer suppresses retinal neovascularization.

Purpose: sFlt-1, a soluble secreted variant of the vascular endothelial growth factor (VEGF) receptor-1 that possesses only its extracellular domain, is a specific endogenous inhibitor of VEGF, which is involved in retinal vasculogenesis. Our objective was to determine the effects of various sFlt-1 gene fragments on retinal neovascularization in vivo using a murine oxygen-induced ischemic retinopathy (OIR) model.

Methods: Lentiviral expression plasmids carrying the sFlt-1 gene fragments containing Ig-like domains 2nd-3rd and 2nd-4th were constructed.

Evaluating subconjunctival bleb function after trabeculectomy using slit-lamp optical coherence tomography and ultrasound biomicroscopy.

Background: The existing classifications for evaluating glaucoma filtering blebs rely mostly on external bleb characteristics and the postoperative control of intraocular pressure (IOP). Internal bleb structures are not carefully observed. This study aimed to analyze and compare glaucoma filtering bleb morphology using slit-lamp-adapted optical coherence tomography (SL-OCT) and ultrasound biomicroscopy (UBM), and to classify blebs according to results and intraocular pressure.

[Evaluation of photodynamic therapy in idiopathic choroidal neovascularization].

Objective: To evaluate the effectiveness of photodynamic therapy (PDT) in the treatment of idiopathic choroidal neovascularization (CNV).

Methods: Sixty-one cases (61 eyes) of CNV were treated with PDT and the fundus appearance, visual acuity, retina thickness as well as the fundus angiographic imaging were observed before and after the therapy. PDT was performed 1.

[Clinical research of the implantation of phakic anterior chamber intraocular lens for high myopia].

Objective: To investigate the efficacy and safety of the implantation of phakic anterior chamber intraocular lens (IOL) for high myopia.

Methods: A consecutive group of 73 eyes in 41 patients with -7.00 to -30.

[Application of capsular tension ring in cataract surgery for zonular dialysis].

Objective: To evaluate the application of capsular tension ring (CTR) in the cataract surgery for zonular dialysis.

Methods: Eleven cases of partially traumatized zonular dialysis patients were managed with CTR after continuous curvilinear capsulorrhexis (CCC), cataract extraction and posterior chamber intraocular lens (IOL) implantation.

Results: The IOLs in all the eyes were basically in the normal position without tilting or obvious decentration.

Treatment of corneal epithelial in-growth after excimer laser in situ keratomileusis.

Objective: To evaluate efficacy of photo therapeutic keratectomy (PTK) on corneal epithelial growth under the lamellar flap after excimer laser in situ keratomileusis (LASIK).

Methods: In the 6 eyes with epithelial in-growth, the corneal cap was lifted, and the in-growing epithelium was removed from the interface. Five to 10 pulses of PTK being 7 mm in diameter were placed over the undersurface of the flap and the stromal bed, irrigation between the interface and replacing corneal flap were performed, and 50 to 75 pulses PTK being 3 mm in diameter were utilized to smooth the flap edge.