miRTarBase update 2022: an informative resource for experimentally validated miRNA-target interactions.

MicroRNAs (miRNAs) are noncoding RNAs with 18-26 nucleotides; they pair with target mRNAs to regulate gene expression and produce significant changes in various physiological and pathological processes. In recent years, the interaction between miRNAs and their target genes has become one of the mainstream directions for drug development. As a large-scale biological database that mainly provides miRNA-target interactions (MTIs) verified by biological experiments, miRTarBase has undergone five revisions and enhancements. The database has accumulated >2 200 449 verified MTIs from 13 389 manually curated articles and CLIP-seq data. An optimized scoring system is adopted to enhance this update's critical recognition of MTI-related articles and corresponding disease information. In addition, single-nucleotide polymorphisms and disease-related variants related to the binding efficiency of miRNA and target were characterized in miRNAs and gene 3' untranslated regions. miRNA expression profiles across extracellular vesicles, blood and different tissues, including exosomal miRNAs and tissue-specific miRNAs, were integrated to explore miRNA functions and biomarkers. For the user interface, we have classified attributes, including RNA expression, specific interaction, protein expression and biological function, for various validation experiments related to the role of miRNA. We also used seed sequence information to evaluate the binding sites of miRNA. In summary, these enhancements render miRTarBase as one of the most research-amicable MTI databases that contain comprehensive and experimentally verified annotations. The newly updated version of miRTarBase is now available at https://miRTarBase.cuhk.edu.cn/.

Correlation of coagulation states with prognosis of sudden deafness.

Prognosis of sudden deafness remains a challenge in clinics because of inhomogeneity of the disease. Here we report our retrospective study aimed to explore the value of coagulative markers including activated partial thromboplastin time (APTT), prothrombin time (PT), plasma fibrinogen (FIB), and plasma D-dimer in the prognosis of patients. The study included a total of 160 patients, of whom 92 had valid responses, 68 had invalid responses, and 68 had ineffective responses. APTT, PT, and the levels of FIB and D-dimer in serum were compared between the two groups, and their prognostic values were determined in terms of area under the curve (AUC) in receiver operating curve (ROC) analysis, sensitivity, and specificity. The correlations of APTT, PT, and FIB to degree of hearing loss were also assessed. Serum APTT and PT, FIB, and D-dimer levels were lower in patients with sudden deafness who responded poorly to treatments. ROC analysis showed that APTT, PT, FIB, and D-dimer had high AUC, sensitivity, and specificity for nonresponders, particularly when used in combination (AUC = 0.91, sensitivity = 86.76%, and specificity = 82.61%). Patients with a higher degree of hearing loss (>91 dB) also demonstrated significantly lower values of APTT and PT and higher levels of serum FIB and D-dimer than those with a lower degree of hearing loss. Our study demonstrated that APTT, PT, and serum levels of FIB and D-dimer could serve as strong predictors of sudden deafness, potentiating the use of these tests to identify patients who respond poorly to treatments.NEW & NOTEWORTHY Our retrospective study indicated that lower serum APTT and PT levels and higher fibrinogen (FIB) and D-dimer levels are characteristics associated with poor treatment responses among patients with sudden deafness. A combination of these levels had a high accuracy in identifying the nonresponders. APTT, PT, and serum levels of FIB and D-dimer could serve as strong predictors of sudden deafness, potentiating the use of these tests to identify patients who respond poorly to treatments.

Construction a novel detection method for Trichomonas vaginalis based on recombinant enzyme polymerase amplification targeting the Actin gene.

Trichomoniasis is a common and curable sexually transmitted disease worldwide. The rapid, convenient, and accurate diagnosis of trichomoniasis is an important link in the prevention and treatment of the disease. The current detection methods of Trichomonas vaginalis are mainly wet mount microscopy, culture, nested PCR, and loop-mediated isothermal amplification. However, these detection methods have some shortcomings. In this study, a recombinant enzyme polymerase amplification (RPA) assay had been conducted to detect T. vaginalis. The target gene and the corresponding primers were screened, and the reaction system and conditions were optimized in the assay of RPA. The sensitivity and specificity of this detection method were analyzed. The detection efficiency of wet mount microscopy, culture, nested PCR, and RPA was compared by testing 53 clinical samples from vaginal secretions. By screening, the actin gene of T. vaginalis could be used as a target gene for RPA detection of T. vaginalis, and the optimum reaction condition to amplify the actin gene by RPA was at 39°C for 30 min. The detection limit of T. vaginalis DNA using RPA was 1 pg, corresponding to a sensitivity of approximately five trophozoites. The RPA assay demonstrated high specificity for T. vaginalis, and there was no cross-reactivity with Giardia lamblia, Escherichia coli, Lactobacillus, Toxoplasma gondii, Staphylococcus aureus, and Candida albicans. Of the 53 clinical samples, the positive rates of T. vaginalis detected by wet mount microscopy, culture, nested PCR and RPA were 50.9 4% (27/53), 71.7% (38/53), 71.7% (38/53), and 69.81% (37/53), respectively. Compared with culture which was used as the gold standard for diagnosing trichomoniasis, testing clinical samples by wet mount microscopy showed 71.05% sensitivity, 100% specificity, and moderate diagnostic agreement with the culture (K = 0.581, Z = 4.661, p < 0.001). The nested PCR showed 100% sensitivity, 100% specificity, and excellent diagnostic agreement (K = 1, Z = 7.28, p < 0.001), while RPA displayed 97.37% sensitivity, 100% specificity, and excellent diagnostic agreement (K = 0.954, Z = 6.956, p < 0.001). At the present study, rapid amplification of actin gene by RPA could be used as a tool for detection of T. vaginalis. The detection method of RPA was more sensitive than wet mount microscopy and displayed excellent specificity. Moreover, RPA amplification of actin gene did not require a PCR instrument and the amplification time was shorter than that of ordinary PCR. Therefore, the RPA assay was proposed in this study as a point-of-care examination and a diagnostic method of T. vaginalis infection, which exhibited the potential value in the treatment and prevention of trichomoniasis.

Molecular prevalence and subtypes distribution of Blastocystis sp. among outpatients and inpatients in north and south areas of Henan Province, China.

Blastocystis sp. is one of the most common intestinal parasites in humans and many animals. To further understand the infection of Blastocystis hominis (B. hominis) and the distribution of its genotype in some areas of Henan Province, China, 793 stool samples from outpatients and inpatients in Xinxiang City and Xinyang City, Henan Province were collected from April 2020 to July 2022. The samples were detected by polymerase chain reaction and analyzed by univariate analysis and logistic regression analysis. The results showed that the infection rates of B. hominis in Xinxiang and Xinyang were 10.97% (51/465) and 10.98% (36/328), respectively. Although there were no significant differences in B. hominis infection between gender, age, residence, and disease background, the incidence of hematochezia significantly differed from the incidence of abdominal pain, diarrhea, and constipation among participants (χ2  = 15.795, p = 0.002). A total of 87 positive samples were sequenced and compared with Basic Local Alignment Search Tool, and five subtypes (ST1, ST3, ST4, ST6, and ST7) were identified, of which ST3 was the dominant subtype (63.22%, 55/87), followed by ST7 (17.24%, 15/87) and ST1 (16.09%, 14/87). This is the first study that analyzed the prevalence and subtype distribution of B. hominis in southern and northern Henan Province, thus providing new insights into the epidemiology of B. hominis.

Selenium-Doped Amorphous Black Phosphorus@TiO2/C Heterostructures for High-Performance Li/Na/K Ion Batteries.

Heterostructures have been confirmed to demonstrate better electrochemical performance than their individual building blocks, which is not only attributed to the complementary advantages of diverse materials but also to various synergistic effects, such as increased active sites at the heterointerfaces, enhanced kinetics from a built-in electric field, stable structure due to physical or chemical bonding, etc. However, constructing a desired heterostructure remains greatly challenging owing to the mismatch of crystal structures, atomic spacings, and reaction mechanisms between different electrode materials. In this study, an amorphous heterostructure composed of Se-doped black phosphorus and metal-organic framework (MOF)-derived TiO2/C (Se-BP@TiO2/C) was successfully fabricated using a simple Se-assisted ball-milling method. In addition to the inherent advantages of heterostructures, the novel material also had considerable free volume in the amorphous domains, which not only buffered the volume change of active materials during cycles but also provided space and interconnected channels for ion diffusion. When used as anode materials for Li/Na/K ion batteries, the Se-BP@TiO2/C achieved high specific capacities, good cyclability, and fast rate capability. This work opens up a new route to design amorphous heterostructure electrodes for high-performance battery systems.

Nanocomputed Tomography Imaging of Bacterial Alkaline Phosphatase Activity with an Iodinated Hydrogelator.

Alkaline phosphatase (ALP) is an important enzyme, but direct imaging of ALP activity with high spatiotemporal resolution remains challenging. In this work, we rationally designed an iodinated hydrogelator precursor Nap-Phe-Phe(I)-Tyr(H2PO3)-OH (1P) which self-assembles into nanofibers to form hydrogel under the catalysis of ALP. With this property of concentrating iodine atoms at the locations of ALP, 1P was successfully applied for direct nanocomputed tomography (nano-CT) imaging of ALP activity in bacteria for the first time. We envision that, on the basis of this pioneering work, new hydrogelators containing more iodine atoms (e.g., five iodine atoms in 1P) will be designed for better nano-CT imaging of ALP activity with higher CT contrast in the near future.

Intramolecular addition of diarylmethanols to imines promoted by KOt-Bu/DMF: a new synthetic approach to indole derivatives.

KOt-Bu/DMF promoted intramolecular addition of diarylmethanols to imines was developed. A series of 2,3-disubstituted indoles was obtained in good yields. A reaction mechanism of radical cyclization and subsequent dehydration is proposed.

Preparation and Biosafety Assessment of Water-Soluble Hyperbranched Polyester Nanoparticles with Carboxylic Acid Functional Groups.

Biosafety assessment of nanoparticles has been of great interest in the development of nanoscience and nanotechnology. Here, the water-soluble hyperbranched polyester nanoparticles with carboxylic acid functional group (HBPE-CA NPs) are synthesized and characterized. They have amphiphilic structure that include hydrophobic hyperbranched polyester (HBPE) core and hydrophilic carboxylated terminal groups. Biosafety assessment tests of the HBPE-CA NPs include coagulation times, hemolysis, complement activation, platelet activation and cytotoxicity (MTT) are performed. The results show that the HBPE-CA NPs exhibit good hemocompatibility that strongly depend on the amphiphilic structure. Moreover, the results also indicate the non-cytotoxicity of the HBPE-CA NPs. So the HBPE-CA NPs provide a promising platform of blood circulation system for illness therapy with the help of the drug-loaded capacity of-HBPE.

Using magnetic resonance imaging to study enzymatic hydrogelation.

Herein, we report, for the first time, the use of MRI methods to study enzymatic hydrogelation. Supramolecular hydrogels have been exploited as biomaterials for many applications. However, behaviors of the water molecules encapsulated in hydrogels have not been fully understood. In this work, we designed a precursor 1 which could self-assemble into nanofibers and form hydrogel I (gel I) upon the catalysis of phosphatase. The differences of mechanic property, pore size, water diffusion rate, and magnetic resonance relaxation times T1 and T2 of gel I containing different concentrations of 1 were systematically studied and analyzed. T1, T2, and diffusion-weighted (1)H MR images from gel I phantoms were obtained at 9.4 T. Analyses of the MRI data uncovered how the density of the nanofiber networks affects the relaxation behaviors of the water protons encapsulated in such hydrogels. Rheological analyses and cryo-TEM observations showed increased gel elasticities with increased concentrations of 1 while the pore sizes of gel I decreased. This also resulted in an increase in the proton relaxation rate (i.e., shortened T1, T2, and apparent diffusion coefficient (ADC)) for the water encapsulated in the hydrogel. With MRI, our study provides a new in vitro method to potentially mimic and study in vivo diseases that involve fibrous aggregates.

Direct inter- and intramolecular addition of amides to arylalkenes promoted by KOt-Bu/DMF.

Direct addition of tetrahydroisoquinoline derived amides to arylalkenes has been achieved in the presence of KOt-Bu/DMF. Both intermolecular and intramolecular reactions could occur in good yields. α-Amido alkyl radicals are proposed to be generated under the reaction conditions. The reaction is efficient for the synthesis of seven-membered nitrogen heterocycles. A homoprotoberberine was prepared conveniently via this method.

CO2 emission prediction based on carbon verification data of 17 thermal power enterprises in Gansu Province.

The energy and power industry is an important field for CO2 emission reduction. The CO2 emitted by thermal power enterprises is a major cause of global climate change, and also a key challenge for China to achieve the goals of "carbon peaking and carbon neutrality." Therefore, it is essential to scientifically and accurately predict the CO2 emissions of key thermal power enterprises in the region. This will guide carbon reduction strategies and policy recommendations for leaders, and also provide a valuable reference for similar regions globally. This study utilizes the factor analysis method to extract the common factors influencing CO2 emissions based on the carbon verification data of 17 thermal power enterprises in Gansu Province. Additionally, the DISO (distance between indices of simulation and observation) index is employed to comprehensively evaluate three prediction models, namely multiple linear regression, support vector regression, and GA-BP neural network. Ultimately, this study provides a reasonable prediction of CO2 emissions for the aforementioned enterprises in Gansu Province. The results show that the three common factors obtained by factor analysis, namely energy consumption and output factor, energy quality factor, and energy efficiency factor, can effectively predict the CO2 emissions from thermal power enterprises. In the three prediction models, GA-BP neural network has the best overall performance with DISO value of 0.95, RMSE value of 11848.236, and MAE value of 7880.543. Over the period 2022-2030, CO2 emissions from 17 thermal power enterprises in Gansu Province are predicted to increase. Under the low-carbon, scenario baseline, and high-carbon scenarios, the CO2 emissions will reach 71.58 Mt, 79.25 Mt, and 87.97 Mt, respectively, by 2030.

Long non-coding RNAs and immune cells: Unveiling the role in viral infections.

Viral infections present significant challenges to human health, underscoring the importance of understanding the immune response for effective therapeutic strategies. Immune cell activation leads to dynamic changes in gene expression. Numerous studies have demonstrated the crucial role of long noncoding RNAs (lncRNAs) in immune activation and disease processes, including viral infections. This review provides a comprehensive overview of lncRNAs expressed in immune cells, including CD8 T cells, CD4 T cells, B cells, monocytes, macrophages, dendritic cells, and granulocytes, during both acute and chronic viral infections. LncRNA-mediated gene regulation encompasses various mechanisms, including the modulation of viral replication, the establishment of latency, activation of interferon pathways and other critical signaling pathways, regulation of immune exhaustion and aging, and control of cytokine and chemokine production, as well as the modulation of interferon-stimulated genes. By highlighting specific lncRNAs in different immune cell types, this review enhances our understanding of immune responses to viral infections from a lncRNA perspective and suggests potential avenues for exploring lncRNAs as therapeutic targets against viral diseases.

Prevalence and genotype distribution of HPV infection from Hangzhou of Zhejiang Province pre- and during COVID-19 pandemic.

Limited data exist on HPV prevalence and genotyping during the COVID-19 pandemic. A total of 130,243 samples from 129, 652 women and 591 men who visited the First People's Hospital of Linping District between 2016 and 2022 were recruited. HPV genotypes were detected by polymerase chain reaction (PCR) amplification and nucleic acid molecular hybridization. Then the prevalence characteristics of HPV genotypes and trends in HPV infection rates from 2016 to 2022 were analyzed. Results showed that among the study population, the overall prevalence of HPV infection was 15.29%, with 11.25% having single HPV infections and 4.04% having multiple HPV infections, consistent with previous findings. HPV genotypes exhibited similar distribution patterns in both male and female groups, with HPV16, HPV52, HPV58, HPV18, and HPV39 being the most prevalent. Age-related analysis unveiled a bimodal pattern in HPV prevalence, with peaks in infection rates observed in individuals below 20 and those aged 61-65 years. Comparing the pre- and during COVID-19 periods revealed significant disparities in HPV infections, with variations in specific HPV genotypes, including 16, 18, 35, 45, 52, 58, 59, and 68. This study provides valuable insights into the prevalence, distribution, and epidemiological characteristics of HPV infections in a large population. It also highlights the potential impact of the COVID-19 pandemic on HPV trends.

Patient-reported physical well-being predicts good long-term survival of hematopoietic stem cell transplantation.

AIM: This study aimed to explore the association between patient-reported items at different time points after hematopoietic stem cell transplantation (HSCT) and long-term survival. METHODS: We conducted a study with 144 allogeneic HSCT patients, following them for 5 years post-transplantation. Data from the Functional Assessment of Cancer Therapy-Bone Marrow Transplant (FACT-BMT) questionnaire were collected before transplantation and at 1, 3, 6, 12, 18, 36, and 60 months after transplantation. Demographic characteristics and survival status were also assessed. RESULTS: Among the 144 cases, the 5-year overall survival (OS), progression-free survival (PFS), non-relapse mortality (NRM), and graft-versus-host disease-free (GRFS) rates were 65%, 48%, 17%, and 36% respectively. Health-related quality of life (HRQOL) showed a fluctuating pattern over 5 years. Using a latent class mixed model, patients were classified into two groups based on their physical well-being (PWB) scores during the 60-month follow-up. Class 1 had initially lower PWB scores, which gradually increased over time. In contrast, Class 2 maintained higher PWB scores with slight increases over time. Kaplan-Meier survival analysis revealed that Class 1 had better OS (70.9% vs. 52.9%, p = 0.021), PFS (60.5% vs. 41.2%, p = 0.039), and GRFS (35.1% vs. 29.3%, p = 0.035) compared to Class 2. CONCLUSIONS: Patients who had higher initial PWB scores after HSCT demonstrated improved long-term survival outcomes. The PWB score could serve as a valuable predictor for the prognosis of HSCT.

Management of neurotoxicity syndrome complicated by autologous hematopoietic stem cell transplantation bridge to chimeric antigen receptor T-Cell therapy: A case report.

Effectively addressing the challenges posed by relapsed and refractory diffuse large B-cell lymphoma, particularly when employing autologous hematopoietic stem cell transplantation and CAR-T therapy, requires a comprehensive approach to treatment and nursing. This case report emphasizes a nursing strategy focused on managing neurotoxicity post-CAR-T therapy. Nursing interventions include the identification of neurotoxicity symptoms, neuropsychiatric management, careful support during lumbar puncture and intrathecal administration, psychological assistance, and adaptive nutritional guidance. The diligent application of treatment and nursing care resulted in a remarkable recovery for the patient, as evidenced by the alleviation of central facial paralysis, improvement in swallowing function (from Grade 4 to Grade 2), and enhanced vocalization. Consistent and specialized nursing care is paramount for effectively managing complications, especially neurotoxicity, in patients undergoing CAR-T therapy. A thorough monitoring of symptoms and personalized care contribute to optimizing treatment outcomes and ensuring patient safety.

A novel detection method based on MIRA-CRISPR/Cas13a-LFD targeting the repeated DNA sequence of Trichomonas vaginalis.

BACKGROUND: Trichomonas vaginalis is a protozoan parasite, widely recognized as the most prevalent non-viral sexually transmitted infection (STI) globally. This infection is linked to various complications, including pelvic inflammatory disease, adverse pregnancy outcomes, and an increased risk of acquiring HIV. Current molecular detection methods for T. vaginalis are often costly and technically challenging. METHODS: We developed a novel detection method for T. vaginalis using a multi-enzyme isothermal rapid amplification-clustered regularly interspaced short palindromic repeats (MIRA-CRISPR)/Cas13a-lateral flow device (LFD). This assay targets the repeated DNA sequence (GenBank: L23861.1) of T. vaginalis and is performed at a constant temperature of 37 °C for approximately 1 hour. RESULTS: The detection limit of genomic DNA (gDNA) using our protocol was 1 × 10-4 ng/µl. Specificity was confirmed by the absence of cross-reaction with gDNA from various other microorganisms such as Staphylococcus aureus, Lactobacillus taiwanensis, Escherichia coli, Monilia albicans, Giardia lamblia, or Toxoplasma gondii. Among 30 clinical samples tested, the positive rates of T. vaginalis detection were 33.33% (10/30) by wet mount microscopy, 40% (12/30) by nested polymerase chain reaction (PCR), 40% (12/30) by MIRA-CRISPR/Cas13a-LFD, and 40% (12/30) by the culture method. Compared with the culture method, the gold standard for diagnosing trichomoniasis, wet mount microscopy showed a sensitivity of 83.3% and moderate diagnostic agreement (kappa value = 0.87). Both nested PCR and MIRA-CRISPR/Cas13a-LFD exhibited 100% sensitivity and excellent diagnostic agreement (kappa value = 1). CONCLUSIONS: The MIRA-CRISPR/Cas13a-LFD method is a convenient, rapid, stable, and accurate diagnostic tool for detecting T. vaginalis. This method has the potential to enhance the diagnosis and management of vaginitis, offering a significant improvement over existing diagnostic techniques.

Effects of medical and nursing group rounds combined with emotional nursing on quality of life and emotion in patients with malignant lymphoma.

To investigate the effects of medical and nursing visits in the same group combined with emotional care on the quality of life and emotions of patients with malignant lymphoma. One hundred sixty cases of malignant lymphoma patients admitted to our hospital from March 2020 to July 2022 were selected as retrospective study subjects and divided into 80 cases each in the control group and the observation group according to the different nursing methods. Among them, the control group implemented conventional emotional care, and the observation group implemented medical and nursing visits in the same group on the basis of the control group. The differences in quality of life, anxiety-related scores and sleep quality between the 2 groups of patients with malignant lymphoma before and after nursing were compared. After nursing, the mental vitality (P = .015), social interaction (P < .001), emotional restriction (P = .007), and mental status (P = .028) scores of patients in the observation group were higher than those in the control group. After nursing, the Self-Rating Anxiety Scale (P < .001) and Hamilton Anxiety Scale (P < .001) of malignant lymphoma patients in the observation group were significantly lower than those in the control group, and the sleep quality (P < .001), increased awakening (P < .001), sleep disturbance (P < .001), night terrors (P < .001) scores in the observation group were significantly lower than those in the control group. The combination of medical and nursing group checkups and emotional care can effectively improve the quality of life and sleep of patients with malignant lymphoma and reduce adverse emotions, which is beneficial to patient prognosis and clinical treatment. It has certain reference value for the care of patients with malignant lymphoma.

Investigating the role of Zibai ointment on apoptosis-related factors Bcl-2 and Bax in wound healing after anal fistula surgery.

OBJECTIVE: In this study, we investigated the impact of Zibai ointment on wound healing by analyzing the expression levels of two key apoptosis-related factors-B-cell lymphoma 2 (Bcl-2) and Bcl-2-associated X protein (Bax), in patients following surgery for anal fistula. METHODS: We included 90 patients with anal fistulas who were treated in the People's Hospital Affiliated to Fujian University of Traditional Chinese Medicine. Patients were randomly assigned to receive treatment with Zibai ointment (n = 45) or petroleum jelly (n = 45). The levels of apoptosis-related factors Bcl-2 and Bax were evaluated using enzyme-linked immunosorbent assay (ELISA), while cell apoptosis was assessed using Terminal deoxynucleotidyl transferase (TdT) dUTP Nick-End Labeling (TUNEL) assay. RESULTS: The results of ELISA showed that on Day 21 after the surgery, the levels of Bcl-2 and Bax in the Zibai ointment group were significantly different compared to the petroleum jelly group, with values of (60.11 ± 1.31) ng/mL and (7.05 ± 0.01) versus (83.79 ± 1.74) ng/mL and (6.00 ± 0.05) ng/mL, respectively (p < .05). Furthermore, light microscopy revealed a large number of apoptotic cells within the field of vision 14 days postsurgery in the Zibai ointment group, and the healing time in the Zibai ointment group was significantly different from that in the petroleum jelly group (p < .05). CONCLUSION: We found that Zibai ointment effectively promoted wound healing in patients following anal fistula surgery, possibly by regulating Bcl-2 and Bax apoptosis-related factors.

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole­exome sequencing.

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of inherited DEB. In the present study, whole-exome sequencing was conducted on 12 individuals from the same affected family and a rare heterozygous variation was identified in the collagen type VII, α1 (COL7A1) gene, namely c.6859G>A (p.Gly2287Arg). Subsequently, this heterozygous variant was confirmed using Sanger sequencing of individual plasma cell-free DNA (cfDNA) and it was demonstrated for the first time, to the best of our knowledge, that COL7A1 exons can be amplified from plasma cfDNA. Within the large pedigree examined, 14 out of 18 individuals carried the variant, 3 carried the wild type, and one exceptional case, III-9, showed no disease symptoms despite carrying the disease variant. A general association between genotype and phenotype was established. Of note, the mutation landscape indicated that this G2287R variant is primarily reported in Asian countries. In silico structure prediction suggested that the residue resulting from the mutation may affect collagen protein stability. In conclusion, the present study provides evidence for the involvement of the COL7A1 G2287R gene variant in the development of DEB-Pr and highlights the potential utility of cfDNA in genetic disease diagnosis.

Glaucoma in rural China (the Rural Epidemiology for Glaucoma in China (REG-China)): a national cross-sectional study.

OBJECTIVE: This study aimed to investigate the prevalence of glaucoma with associated factors in the rural populations of 10 provinces in China. DESIGN: A population-based cross-sectional study. METHODS: All participants aged 6 years or older from 10 provinces completed visual acuity testing, slit-lamp examination, ophthalmoscopy and non-contact tonometry. Glaucoma suspects underwent fundus photography, Goldmann applanation tonometry, visual field testing and gonioscopy. Glaucoma was determined according to the International Society of Geographical and Epidemiological Ophthalmology classification scheme. Associations of demographics and medical factors with glaucoma were assessed using multiple logistic regression models. RESULTS: From June 2017 to October 2018, 48 398 of 52 041 participants were included in the final analyses. The age-standardised prevalence of glaucoma was 1.7% (95% CI 1.55% to 1.78%) among the participants older than 6 years, which was 2.1% (95% CI 1.93% to 2.23%) in participants aged over 40 years. The constituent ratios of glaucoma were: 44.4% primary angle-closure glaucoma (PACG), 34.7% primary open-angle glaucoma, 2.6% congenital glaucoma and 18.3% other types of glaucoma. Increasing age, smoking, cerebral stroke, type 2 diabetes, higher education (college or more) and higher personal income were significant risk factors for PACG. The unilateral and bilateral blindness rates in the entire study population were 4.692% and 1.068%, respectively. A family history of glaucoma was a significant risk factor for the prevalence of glaucoma and blindness in at least one eye. CONCLUSIONS: Rural populations have a high prevalence of glaucoma, which should be included in chronic disease management programmes in China for long-term care.