Idiopathic epiretinal membrane(IERM)is an age-related retinal disease of the macula. In early stages, symptoms of IERM are usually characterized by visual impairment. As the disease progresses, it can lead to metamorphopsia and lower visual acuity in severe cases, the pathogenesis of IERM remains a mystery. Researchers have found that posterior vitreous detachment(PVD), anomalous PVD, activation of the renin-angiotensin system(RAS), and glial to mesenchymal transition(GMT)of Müller cells play important roles in the pathogenesis of IERM. In pathological research of IERM, astrocytes, microglia, Müller cells, hyalocytes, fibroblasts, myofibroblasts, and retinal pigment epithelium(RPE)cells were found to be the major cellular components of IERM, and the extracellular matrix of IERM was mainly composed of extracellular collagen fibers. In this article, we summarize the mechanisms of IERM formation in the light of some of the recent advances in research on the pathogeny, cells, cytokines, and extracellular matrix of IERM, in order to provide directions for its prevention and treatment.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

ObjectiveTo explore the clinical efficacy and safety of Fuzheng Huaji Longbi decoction in treating benign prostatic hyperplasia （BPH） in the patients with the syndrome of healthy Qi deficiency and blood stasis. MethodA total of 94 BPH patients were randomized into control and observation groups， with 47 patients in each group. The control group was treated with doxazosin mesylate sustained-release tablets， and the observation group with Fuzheng Huaji Longbi decoction on the basis of the therapy in the control group. After eight weeks， the international prostate symptom score （IPSS）， quality of life （QOL） score， residual urine volume （RUV）， maximum urinary flow rate （Q_max）， TCM syndrome score， TCM symptom score， electrocardiogram， and liver and kidney function were determined to evaluate the clinical efficacy and safety of the two groups. ResultAfter 8 weeks of treatment， the total response rate in the control group was 63.64% （28/44）， which was lower than that （84.44%， 38/45） in the observation group （χ²=5.026， P<0.05）. The clinical efficacy in the observation group was higher than that in the control group （Z=-2.17， P=0.030）. The treatment in both groups decreased the IPSS， QOL score， RUV， and TCM syndrome scores and increased the Q_max （P<0.05）. Moreover， the observation group had lower IPSS， QOL score， RUV， and TCM syndrome score （P<0.05） and higher Q_max than the control group after treatment （P<0.05）. The treatment in the observation group decreased all the TCM symptom scores （P<0.05）， while that in the control group only decreased the frequency of urination at night and the scores of dysuria， weak urine stream， and post-urinary drainage （P<0.05）. After treatment， the observation group had lower frequency of urination at night and lower scores of mental fatigue， cold limbs， lower abdominal discomfort， and loose stool than the control group （P<0.05）. No adverse events associated with the administration of Fuzheng Huaji Longbi decoction were observed during the treatment period. ConclusionFuzheng Huaji Longbi decoction is effective in treating BPH in the patients with the syndrome of healthy qi deficiency and blood stasis. It can relieve the clinical symptoms and improve the quality of life， being a safe and reliable choice for clinical application.

The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.

Objective To explore the effects of polyethylene glycol-2-methoxyestradiol(PEG-2ME2/2ME2)nanoparticles on cerebral vascular endothelial RBE4 cells after oxygen glucose deprivation/reperfusion(OGD/R).Methods To construct the PEG-2ME2/2ME2 nanoparticles by solvent evaporation method,and the characterization of nanoparticles was detected by transmission electron microscope(TEM)and laser particle size analyzer;the cellular cytotoxicity of PEG-2ME2/2ME2 nanoparticles was detected by CCK-8.Using OGD/R to simulate the process of ischemia-reperfusion in vitro,to detect the cell activity by CCK-8;Western blot and immu-nofluorescence were used to detect the expression of tight junction proteins,and the barrier function of cerebrovascular endothelial cells was comprehensively evaluated by establishing blood-brain barrier(BBB)model in vitro and measuring fluorescence probe leakage;re-active oxygen species(ROS)probe was used to detect the ROS level of RBE4 cells,and Western blot was used to detect superoxide dis-mutase to identify the redox status of RBE4 cells.Results The results of TEM showed that the spherical morphology of PEG-2ME2/2ME2 nanoparticles was stable,and the results of laser particle size analyzer showed that the size of PEG-2ME2/2ME2 nanoparticles was uniform;the results of CCK-8 assay showed that the PEG-2ME2/2ME2 nanoparticles had no significant cytotoxicity to RBE4 cells with-in 5μmol/L of 2ME2;the results of CCK-8 assay showed that PEG-2ME2/2ME2 nanoparticles rescued the cellular activity of RBE4 cells after OGD/R compared to the 2ME2 alone,inhibited the downregulation of tight junction protein expression,and effectively restored the barrier function of cerebral vascular endothelial cells;the detection results of ROS probe and Western blot showed that PEG-2ME2/2ME2 nanoparticles reduced intracellular ROS levels,restored the expression of superoxide dismutase compared to the 2ME2 alone.Conclusion PEG-2ME2/2ME2 nanoparticles have uniform size and stable morphology,which can protect RBE4 cells against OGD/R,effectively restore the integrity and barrier function of the blood-brain barrier.The PEG-2ME2/2ME2 nanoparticles are expected to be-come potential drugs for the treatment of cerebrovascular endothelial barrier injury after OGD/R.

Shengmai formula,composed of Ginseng Radix et Rhizoma,Ophiopogon Radix and Schisandrae Chinensis Fructus,is a classic and famous formula.It is a representative formula for"supplementing qi,nourishing yin,and generating fluid"in Traditional Chinese Medicine theory.To date,a wide range of Shengmai formulae have been developed according to different medical applications,but the quality evaluation standards are at a relatively low level,and most of them only specify the individual components of a single herb,making it difficult to ensure clinical efficacy and safety.At the same time,the physical and chemical identification methods of Shengmai formula have been constantly updated,allowing for greater progress in research on its main chemical components such as saponins,lignans and flavonoids.However,there is little systematic summarization of the chemical components and analytical methods.Based on the existing references,we systematically summarized ginsenosides,ophiopogonins,schisandra lignans,homoisoflavonoids and some other compounds in this paper,as well as the quality standards of Shengmai formulae and their analytical methods in order to aid clinical research and formulation manufacture.

【Objective】 To evaluate the value of platelet-to-lymphocyte ratio (PLR) in the prognosis of prostate cancer. 【Methods】 Relevant studies were searched in CNKI, Wanfang, CBM, VIP, PubMed, Web of Science, Cochrane Library and Embase databases from inception to Dec.2021. The literature was screeded, data were extracted, and the quality was evaluated according to the inclusion and exclusion criteria. A meta-analysis by using the hazard risk (HR) and 95% confidence interval (CI) was adopted to assess the prognostic value of PLR. The data were analyzed with STATA 16.0 software. 【Results】 A total of 10 studies were included, involving 1 802 patients. For patients with high level of PLR, the overall survival (OS) (HR=1.70, 95%CI:1.25-2.30, P=0.001) and disease-free survival (DFS)(HR=1.44, 95%CI:1.15-1.81, P=0.002) were significantly shorter. 【Conclusion】 PLR is an independent risk factor affecting the long-term prognosis of prostate cancer patients. Pretreatment detection of PLR is meaningful in determining the prognosis.

【Objective】 To evaluate the efficacy and safety of phosphodiesterase type 5 (PDE5) inhibitors alone or in combination with selective serotonin reuptake inhibitors (SSRIs) compared with SSRIs alone in the treatment of comorbidity of erectile dysfunction (ED) and premature ejaculation (PE). 【Methods】 The clinical randomized controlled trials of ED and PE comorbidity treated with PDE5 inhibitors alone or in combination with SSRIs were searched from database inception to Sep.2022, in CNKI, PubMed, Web of Science, Embase, Wanfang Database, cqVIP Database, SinoMed and Yiigle. The intravaginal ejaculatory latency time(IELT), score of International Index of Erectile Function 5 (IIEF-5) and adverse reaction rate were analyzed with RevMan 5.4.1 software. 【Results】 A total of9 studies involving 793 patients were included. Meta analysis showed that compared with SSRIs alone, PDE5 inhibitors alone or in combination with SSRIs yielded better results in IELT [MD=1.99, 95%CI(1.51-2.46), P<0.001] and higher IIEF-5 score [MD=4.61, 95%CI(3.68-5.55), P<0.001] , but no increase in adverse events [RR=0.99, 95%CI(0.74-1.31), P=0.92] . 【Conclusion】 In the treatment of ED and PE comorbidity, priority should be given to ED or both ED and PE, which can produce better efficacy without increasing the adverse effects.

The methylation of N6-methyladenosine(m6A)is an important gene expression regulation mechanism in eukaryotes.It is mainly regulated by three types of regulators:writers,erasers and readers.With the development of high-throughput sequencing technology and bioinformatics,various methods have been developed to detect and analyze m6A methylation sites.A growing body of research has shown that m6A methylation plays an important role in the occurrence and development of urological tumors,including tumor proliferation,invasion and metastasis.However,the molecular mechanism and role of m6A in different types of urological tumors have not been fully elucidated.This article reviews the main regulatory mechanism of m6A methylation modification as well as the research progress,the prognostic value and the therapeutic resistance of m6A methylation modification in urological tumors.

Objective:To analyze the research hotspots and trends in the field of pressure injury support surfaces both domestically and abroad and to provide references for future studies in this domain.Methods:Relevant literature on pressure injury support surfaces indexed in the Web of Science Core Collection, CNKI, Wanfang, and VIP database were retrieved, with the search spanning from January 1, 2010, to February 28, 2023. CiteSpace was utilized to perform a visualization analysis of the amassed data.Results:A total of 307 Chinese articles and 434 English articles were included in the analysis. The United States emerged as the country with the highest number of publications. The General Hospital of Eastern Military Command topped the list in China in terms of the number of publications. Chinese Journal of Modern Nursing and Journal of Tissue Viability were the journals with the highest publication frequencies in China and abroad, respectively. Jiang Qixia was the author with the highest number of publications in China, while Gefen secured this position internationally. The Chinese literature formed 12 clusters and the English literature formed 17, culminating in the identification of 8 meaningful categories (population, location, research type, risk factors, static support surfaces, dynamic support surfaces, intelligent monitoring, and effectiveness evaluation), among which intelligent monitoring was seen as a future research trend. Conclusions:Pressure injury support surfaces have been a research hotspot in recent years both domestically and internationally. It is recommended to promote the development of domestic research on pressure injury preventive care through strategies such as expanding the range of research populations, developing intelligent support surface devices conducive to promotion in collaboration with computer and artificial intelligence disciplines, and carrying out large-scale high-quality original research and corresponding quality improvement projects.