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With the rapid development of science and technology and the wide application of electronic products, the number of patients with high myopia is gradually increasing. Meanwhile, owing to the continuous optimization of surgical skils and the continuous advancement in materials of posterior chamber intraocular lens and manufacturing processes, implantable collamer lens(ICL)V4c implantation has gradually become one of the main surgeries for the treatment of high myopia. In the rapid era of social information, people pay more attention to the long-term efficacy after ICL V4c implantation, they not only want clear vision, but also the pursuit of visual comfort and durability. Therefore, this paper will specifically discuss the research progress of the post-implantation efficacy of ICL V4c with at least 2 a of follow-up observation within 3 a, aiming to review the latest research progress on the long-term efficacy of ICL V4c implantation from the three dimensions of visual quality, safety, efficacy and stability and possible surgical complications after ICL V4c implantation.
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Objective:To explore the asymmetry of neonatal brain white matter using fractional anisotropy (FA) parameter generated from diffusion tensor imaging (DTI).Methods:From January 2011 to June 2013, 88 neonates with normal cranial MRI performance, aged 1-14 (7.7±0.3) days and gestational age 31-42 (37.5±0.3) weeks, were retrospectively collected from the First Affiliated Hospital of Xi′an Jiaotong University. According to the gestational age at birth, the neonates were divided into preterm group (37 cases) and term group (51 cases). DTI was processed to generate FA parametric maps. Tract-based spatial statistics (TBSS) was used to analyze the asymmetry in neonatal white matter. Regions of interest were placed in bilaterally symmetrical white matter tracts. The white matter tracts included the bilateral anterior thalamic radiation, corticospinal tract-posterior limb of the inner capsule (CST-IC), corticospinal tract-corona radiata, cingulum hippocampus part (CGH), inferior frontal occipital fasciculus (IFOF), inferior longitudinal fasciculus (ILF), superior longitudinal fasciculus (SLF), uncinate fasciculus, superior longitudinal fasciculus temporal part (SLF-temp). The FA value was measured and asymmetry index (AI) was calculated. The independent-sample t test or Mann-Whitney U test was used to compare the AI of each tract between the preterm and term groups. Partial correlation was used to analyze the effects of neonatal gestational age and birth anthropometric measures on the asymmetry of neonate at birth. Results:The results of TBSS showed that the left lateralized areas of brain white matter in the neonatal period were mainly located in the corticospinal tract, external capsule and genu of corpus callosum. The right lateralized areas of brain white matter in the neonatal period were mainly located in the optic radiation and splenium of corpus callosum. In both the preterm and term groups, the tracts related to motor (CST-IC) and language function (ILF, SLF, SLF-temp) were left asymmetry. The CGH of the preterm and the term neonates were right asymmetry, and AI was -0.086±0.114 and -0.140±0.108 respectively, with a statistically significant difference ( t=2.27, P=0.026), while the differences of AI in the remaining tracts were not statistically significant ( P>0.05). Only gestational age was correlated with the AI of ILF ( r=0.234, P=0.033), SLF ( r=0.259, P=0.018), SLF-temp ( r=0.252, P=0.022), CST-IC ( r=0.235, P=0.033). No significant correlation was found between birthweight, head circumference, body length and AI. Conclusions:The asymmetries of brain white matter already exist in neonates aged less than two weeks. The tracts associated with motor and language function are predominantly left asymmetry.
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BACKGROUND@#This study aimed to evaluate the correlation between long non-coding RNA (lncRNA)-related single nucleotide polymorphisms (SNPs) and susceptibility to silicosis.@*METHODS@#First, RNA-sequencing (RNA-seq) data were comprehensively analyzed in the peripheral blood lymphocytes of eight participants (four silicosis cases and four healthy controls) exposed to silica dust to identify differentially expressed lncRNAs (DE-lncRNAs). The functional SNPs in the identified DE-lncRNAs were then identified using several databases. Finally, the association between functional SNPs and susceptibility to silicosis was evaluated by a two-stage case-control study. The SNPs of 155 silicosis cases and 141 healthy silica-exposed controls were screened by genome-wide association study (GWAS), and the candidate SNPs of 194 silicosis cases and 235 healthy silica-exposed controls were validated by genotyping using the improved Mutiligase Detection Reaction (iMLDR) system.@*RESULTS@#A total of 76 DE-lncRNAs were identified by RNA-seq data analysis (cut-offs: fold change > 2 or fold change < 0.5, P < 0.05), while 127 functional SNPs among those 76 DE-lncRNAs were identified through multiple public databases. Furthermore, five SNPs were found to be significantly correlated with the risk of silicosis by GWAS screening (P < 0.05), while the results of GWAS and iMLDR validation indicated that the variant A allele of rs1814521 was associated with a reduced risk of silicosis (OR = 0.76, 95% CI = 0.62-0.94, P = 0.011).@*CONCLUSION@#The presence of the SNP rs1814521 in the lncRNA ADGRG3 is associated with susceptibility to silicosis. Moreover, ADGRG3 was found to be lowly expressed in silicosis cases. The underlying biological mechanisms by which lncRNA ADGRG3 and rs1814521 regulate the development of silicosis need further study.
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Humans , Case-Control Studies , Genetic Predisposition to Disease , Genome-Wide Association Study , Polymorphism, Single Nucleotide , RNA, Long Noncoding/genetics , Silicosis/geneticsABSTRACT
Objective:To study the relationship between white matter injury (WMI) and brain maturity in preterm infants at full-term corrected gestational age (cGA).Methods:A retrospective study was performed in preterm infants [GA≤32 weeks or birth weight (BW) ≤1 500 g] admitted to the neonatal intensive care unit of the First Affiliated Hospital of Xi'an Jiaotong University from January 2017 to August 2018 and the Northwest Women and Children's Hospital from January 2017 to June 2017. The infants received conventional magnetic resonance imaging (MRI) at cGA 37~42 weeks. The infants were assigned into the WMI group and the control group according to the WMI scoring system, including the total maturation scores (TMS) and four sub-item scores.Results:A total of 118 premature infants were enrolled in this study (17 cases in the WMI group and 101 cases in the control group). The GA was (30.3±1.7) weeks, and BW was (1 356±268) g. The proportion of delayed TMS in the WMI group was significantly higher than the control group [58.8%(10/17) vs. 31.7%(32/101), P<0.05]. The TMS of the WMI group were significantly lower than the control group [(10.7±1.8) vs. (11.8±1.5), P<0.05]. The sub-item scores of TMS showed that the myelination [(2.8±0.6) vs. (3.1±0.4), P<0.05] and glial cell migration bands of the WMI group [(1.6±0.4) vs. (2.1±0.6), P=0.004] were significantly lower than the control group and no significant differences existed in cortical folding and involution of germinal matrix tissue scores between the two groups. Conclusions:The brain maturity of preterm infants with WMI is substantially delayed than those without WMI, including delayed myelination and delayed disappearance of glial cell migration bands.
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The impact of parental obesity on offspring health attracts increasing attention with the rising obese population worldwide. Much more studies have concentrated on the influences of maternal obesity, while studies regarding paternal obesity were relatively few and mainly focused on glucose and insulin regulation, adiposity, etc. Several large cohort studies and animal experiments have shown that paternal obesity can damage the neuropsychological development in offspring, which has become a risk factor for autistic spectrum disorders, cognitive disorders, and lower intelligence quotient, and epigenetic studies have explored the related mechanisms. This review summarizes the progress in this field, aiming to provide a reference for basic and clinical research in the future.
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Silk fibroin has the characteristics of good biocompatibility, mechanical properties, degradation performance and easy shaping, which makes silk fibroin become the focus of biomedical material preparation and research, and has received extensive attention. This article reviews the prior art methods of silk fibroin degumming, dissolution and regeneration processing. The specific applications of silk fibroin materials in the field of biomedical materials are reviewed, and the application prospects of silk fibroin in the field of biomedical materials are prospected.
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Biocompatible Materials , FibroinsABSTRACT
A 65-year-old male patient, who had a history of chronic lymphocytic leukemia for 3 years, presented with erythematous swelling of the right cheek for 20 days and scattered papules on the back and upper extremities for 10 days. Twenty days prior to the presentation, the patient was hospitalized for disseminated herpes zoster. Skin examination showed diffuse dark red swollen plaques in the facial area under the right eyelid as well as on the right auricle and external acoustic meatus, with a sense of infiltration on palpation; scattered brown crusts were left behind at the sites of healed herpes zoster lesions, and scattered depressed scars were observed among these crusts; scattered infiltrative, mung bean- to soybean-sized, light red papules with a smooth surface were seen on the back of the neck, back and upper limbs. Histopathological examination of the facial skin lesions revealed nodular infiltration of epithelioid cells, lymphocytes and many multinucleated giant cells in the dermis and subcutaneous adipose tissue; immunohistochemical staining showed positive staining for CD68, CD20, CD79a, CD3, CD2, CD10, CD5 and Bcl-2, scattered positive staining for Ki-67, and negative staining for CD23, cyclin D1, Bcl-6, multiple myeloma oncogene 1, CD21, CD35 and myeloperoxidase. The patient was diagnosed with Wolf′s isotopic response manifesting as granulomatous inflammation after disseminated herpes zoster. The patient was treated with intravenous drips of methylprednisolone at a dose of 40 mg/d, and the skin lesions were gradually improved and subsided. No recurrence was observed during 4 years of follow-up.
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The stability of virus-like particles (VLPs) is currently the main factor affecting the quality of foot-and-mouth disease VLPs vaccines. In order to further improve the quality of the VLPs vaccine of foot-and-mouth disease (FMD), three amino acid modification sites were designed and screened through kinetic analysis software, based on the three-dimensional structure of FMDV. The three mutant recombinant plasmids were successfully prepared by the point mutation kit, transformed into Escherichia coli strain BL21 and expressed in vitro. After purification by Ni ion chromatography column, SDS-PAGE proved that the three amino acid mutations did not affect the expression of the target protein. The results of the stability study of three FMD mutant VLPs obtained by in vitro assembly show that the introduction of internal hydrophobic side chain amino acids made the morphology of VLPs more uniform (N4017W), and their stability was significantly improved compared to the other two VLPs. The internal hydrophobic force of the capsid contributes to the formation of VLPs and helps to maintain the stability of the capsid, providing new experimental ideas for improving the quality of VLPs vaccines, and helping to promote the development of VLPs vaccines.
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Animals , Amino Acids , Capsid Proteins/genetics , Foot-and-Mouth Disease/prevention & control , Foot-and-Mouth Disease Virus/genetics , Kinetics , Vaccines, Virus-Like Particle/genetics , Viral Vaccines/geneticsABSTRACT
OBJECTIVE@#To study the safety of alginate based gastric mucosal protective adhesive and its feasibility as a submucosal injection.@*METHODS@#The feasibility of using alginate-based gastric mucosal protective gel as submucosal injection was evaluated by @*RESULTS@#After injection of different concentrations of alginate base mucosal protective adhesive solution, the uplift height was significantly higher than that of normal saline (@*CONCLUSIONS@#Gastric mucosa protector is a promising new medical device product with feasibility and good biocompatibility as submucosal uplift injection agent.
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Animals , Rats , Adhesives , Alginates , Feasibility Studies , Gastric Mucosa , Injections , SwineABSTRACT
Surfactin has great potential applications in enhancing oil recovery, agriculture, pharmaceuticals, foods and beverages, and cosmetics due to its extraordinary surface activity, biodegradability, anti-bacterial activity and biocompatibility. Enhancing surfactin production by engineering surfactin-producer and optimizing culture conditions is the key of its industrial production and subsequent applications. In this study, the effect of fatty acid synthesis pathway on surfactin synthesis was investigated, and Bacillus subtilis THBS-2 and THBS-8 with high surfactin titer were constructed by overexpressing key genes involved in the fatty acid synthesis pathway. To optimize culture condition, the amount and adding time of isopropyl-beta-D-thiogalactopyranoside (IPTG) and amino acids were studied, and a two-stage culture method was obtained: IPTG (final concentration: 1.25 mmol/L) and leucine (final concentration: 5 g/L) were added at 3 h, leucine (final concentration 5 g/L) and condensed culture medium (5 mL) were added at 24 h. Applying this strategy, the surfactin titer of B. subtilis THBS-2 reached to 24 g/L in shake flask at 48 h and up to 34 g/L after 68 h fermentation in a 30-L fermentor. The results provide basis for large-scale production and broad application of surfactin.
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Amino Acids , Bacillus subtilis/metabolism , Culture Media , Fermentation , Lipopeptides , Peptides, CyclicABSTRACT
Objective:To explore the mediating effect of self-perceived aging between family care and quality of life (QOL) of elderly type 2 diabetes patients, and to provide the evidence for improving the QOL of elderly type 2 diabetes patients.Methods:The convenience sampling method was used to investigate 215 elderly patients with type 2 diabetes by using the Brief Ageing Perceptions Questionnaire, the Family APGAR Index and the Diabetes Specific Quality of Life Scale, and statistical analysis was performed using SPSS20.0 software.Results:The self-perceived aging score of the elderly patients with type 2 diabetes was (49.90±12.11), the family care score was (7.17±2.53), and the QOL score was (65.89± 12.07). Family care score was negatively correlated with QOL score in elderly patients with type 2 diabetes ( r value was -0.480, P<0.01), self-perceived aging score was negatively correlated with family care score ( r value was -0.472, P<0.01), and positively correlated with QOL score ( r value was 0.688, P<0.01). The mediating effect test showed that self-perceived aging played a complete mediating role between family care and QOL in elderly type 2 diabetes patients, and the mediating effect accounted for 86.51% of the total effect. Conclusions:Self-perceived aging is the mediating variable of family care and QOL, and establishing positive self-perceived aging is conducive to improving the QOL of elderly patients with type 2 diabetes.
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Objective:To explore the risk factors of tumor recurrence after radical nephroureterectomy combined with Gemcitabine and Cisplatin(GC) systemic intravenous chemotherapy for upper tract urothelial carcinoma (UTUC), establish a recurrence risk prediction model, and conduct preliminary verification.Methods:One hundred and one cases of UTUC were analyzed from January 2013 to October 2019 in Beijing Friendship Hospital, Capital Medical University retrospectively. All patients underwent radical nephroureterectomy+ bladder cuff resection, and were treated with GC intravenous adjuvant chemotherapy, among which 19 underwent preoperative neoadjuvant chemotherapy. The study collected general information and clinical characteristics of the patients, and follow up the patient's recurrence. Tumor recurrence and relapse free survival (RFS) were the main observation indexes. The patients were divided into the recurrent group and the non-recurrent group according to their recurrence. Kaplan-Meier and Log-rank methods were used to estimate and compare the RFS rates of the two groups. Univariate difference analysis was used to identify the indicators that were significantly different between patients in the recurrence group and the non-recurrence group, and the COX proportional hazard model was further used to explore the correlation between each factor and the tumor recurrence. According to the weights of relevant risk factors, an individual prognostic index (PI) equation was established, a recurrence prediction model was constructed, and the receiver operating characteristic (ROC) curve was used for verification.Results:One hundred and one patients were followed up for 2-82 months, with median 22 months. 40 patients had recurrence, including 32 in the bladder and 8 in the contralateral upper urinary. One-year RFS was 82.10%, two-year RFS was 68.90% and 5-year RFS was 42.10%. COX proportional risk model results showed that tumor hydronephrosis (X1), lymphovascular invasion (X2) and tumor T stage (X3) were independent risk factors, while neoadjuvant chemotherapy (X4) and chemotherapy cycle (X5) were independent protective factors. Individual PI equation =0.964X1+ 0.688X2+ 0.508X3-1.566 X4-0.675X5. The ROC curve was drawn to show that the optimal pointcut value was 179.5 when the Youden index was 0.537, the sensitivity of the model was 0.750, the specificity was 0.787, and the area under the curve (AUC) was 0.838(95% CI: 0.758-0.918). Conclusions:Hydronephrosis, tumor T stage, lymphovascular invasion, neoadjuvant chemotherapy and chemotherapy cycle are independent factors affecting the recurrence of UTUC patients. The multi-factor risk prediction model is suitable for evaluating the possibility of tumor recurrence after radical surgery combined with GC chemotherapy in UTUC patients, which can provide scientific evidence for the prognosis assessment of patients.
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Objective:To investigate the prognostic significance of the lymphovascular invasion (LVI) in patients with upper tract urothelial carcinoma(UTUC) after radical nephoureterectomy (RNU) and Gemcitabine and Cisplatin combination Chemotherapy (GC).Methods:The clinical data of 95 patients with UTUC admitted to Beijing Friendship Hospital, Capital Medical University from March 2013 to March 2019 were analyzed retrospectively. There were 50 males and 45 females; the average age was 63 years, ranged from 36 to 81 years. According to the situation of LVI, they were divided into LVI positive group ( n=25) and LVI negative group ( n=70). Chi-square test was used to analyze the clinicopathological parameters of the two groups of patients. Kaplan-Meier method was used to draw the survival curves of the overall survival (OS) time and recurrence-free survival (RFS) time of the two groups of patients. The difference between the two groups was used Log-Rank test. The risk factors related to OS and RFS were evaluated using univariate and multivariate Cox regression models. Results:All patients were followed up for 2-82 months, with an average follow-up time of 36 months. Among them, 20(21.1%) died and 36(37.9%) relapsed. There were significant differences in T stage ( P=0.046), lymph node metastasis ( P=0.032), and tumor location ( P=0.019) between LVI negative group and LVI negative group. Univariate analysis showed that hydronephrosis ( P=0.026), lymph node metastasis( P=0.001), LVI ( P=0.001), chemotherapy cycle ( P=0.045) were correlated with OS; hydronephrosis ( P=0.031), tumor T stage ( P=0.013), lymph node metastasis ( P=0.004), LVI ( P=0.001) were significantly correlated with RFS. Multivariate analysis showed that hydronephrosis ( P=0.016), lymph node metastasis ( P=0.016), and LVI( P=0.003) were significantly correlated with OS. Lymph node metastasis ( P=0.018), LVI ( P=0.003) were significantly correlated with RFS. In conclusion, LVI was an independent risk factor for OS and RFS. The OS [(40.7±6.5) months for LVI positive group, (68.5±3.2) months for LVI negative group, χ2=15.750, P<0.001] and RFS [(31.0±5.7) months for LVI positive group, (58.0±8.8) months for LVI negative group, χ2=10.986, P=0.001] of patients with LVI positive group were worse than those with LVI negative group, the differences were statistically significant. Conclusions:LVI is more likely to be possitive in patients with high T stage, lymph node metastasis and single renal pelvis cancer, which provides a basis for risk stratification of patients with UTUC. After radical resection and adjuvant chemotherapy, the benefit of OS and RFS in patients with positive LVI was significantly worse than that in patients with negative LVI.
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Objective:To investigate the relationship between YES-related protein 1(YAP1)and prostate-specific antigen(PSA)in human castration-resistant prostate cancer(CRPC), and explore the regulation mechanism of YAP1 on PSA.Methods:The luciferase reporter gene was used to detect the activity change of the PSA gene promoter region after the over expression of YAP1 in LNCaP and C4-2 cells.The effect of over expression of YAP1 gene on PSA protein in different prostate cancer cell lines was detected by Western blot(WB)method, and the effect of YAP1 silencing on PSA protein in C4-2 cells was observed.The Q-PCR method was used to further verify the expression change of PSA mRNA affected by YAP1 gene over expressed in C4-2 cells.Meanwhile, WB was used to explore the effect of YAP1 on androgen receptor(AR)in C4-2 cells.Results:After over expression YAP1 in CRPC, the luciferase experiment showed that the average C4-2 cell ratio of experimental group to control group was 3.17815892(>2 times, P<0.001). After Q-PCR detection of all over-expressed YAP1 gene fragments, the measured PSA mRNA values in the experimental groups were 2.306667, 1.553333333, 2.613333333, and 2.673333333, respectively, which were higher than those in the control group(1 time, P<0.001), indicating that the PSA expression was significantly increased.WB analysis showed that after C4-2 cells over expressed YAP1, the AR band was significantly enhanced in the experimental group compared with the control group, suggesting that the AR protein expression in the nucleus was significantly increased in the YAP1 over expression group. Conclusions:YAP1 might positively regulate the PSA expression in CRPC and have an ability to promote AR translocation into the nucleus.
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OBJECTIVE@#To analyze the differentially expressed genes (DEGs) between lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC) with bioinformatics analysis and search for potential biomarkers for clinical diagnosis of nonsmall cell lung cancer (NSCLC).@*METHODS@#The gene expression profiling datasets of LUAD and LUSC were acquired. The transcriptome differences between LUAD and LUSC were identified using R language processing and t-test analysis. The differential expressions of the genes were shown by Venn diagram. The DEGs identified by GEO2R were analyzed with DAVID and Ingenuity Pathway Analysis (IPA) to identify the signaling pathways and biomarkers that could be used for differential diagnosis of LUAD and LUSC. The TCGA data and the biomarker expression data from clinical lung cancer samples were used to verify the differential expressions of the Osteoarthritis pathway and LXR/RXR between LUAD and LUSC. We further examined the differential expressions of miR-181 and its two target genes, and , in 23 clinical specimens of lung squamous cell carcinoma and the paired adjacent tissues.@*RESULTS@#GEO data analysis identified 851 DEGs (including 276 up-regulated and 575 down-regulated genes) in LUAD and 885 DEGs (including 406 up-regulated and 479 down-regulated genes) in LUSC. DAVID and IPA analysis revealed that leukocyte migration and inflammatory responses were more abundant in LUAD than in LUSC. Osteoarthritis pathway was inhibited in LUAD and activated in LUSC. IPA analysis showed that transcription factors (GATA4, RELA, YBX1, TP63 and MBD2), cytokines (WNT5A and IL1A) and microRNAs (miR-34a, miR-181b and miR-15a) differed significantly between LUAD and LUSC. miR-34a with IL-1A, miR-15a with YBX1, and miR-181b with WNT5A and MBD2 could serve as the paired microRNA and mRNA targets for differential diagnosis of NSCLC subtypes. Analysis of the clinical samples showed an increased expression of miR-181b-5p and the down-regulation of WNT5A, which could be used as molecular markers for the diagnosis of LUSC.@*CONCLUSIONS@#Through transcriptome analysis, we identified candidate genes, paired microRNAs and pathways for differentiating LUAD and LUSC, and they can provide novel differential diagnosis and therapeutic strategies for LUAD and LUSC.
Subject(s)
Humans , Adenocarcinoma of Lung , Carcinoma, Non-Small-Cell Lung , Carcinoma, Squamous Cell , Lung Neoplasms , MicroRNAs , Y-Box-Binding Protein 1ABSTRACT
Objective@#To analyze the antimicrobial resistance and multilocus sequence typing (MLST) results of extended-spectrum β-lactamase (ESBLs)-producing Escherichia coli in rural residents in villages with pig breeding farms in a county of Shandong province.@*Methods@#Antimicrobial susceptibility testing was performed with agar dilution method by using 360 ESBLs-producing E. coli strains from fresh stool samples of rural residents in villages with pig breeding farms in a county of Shandong. PCR was conducted to amplify the CTX-M, TEM, SHV genes and capillary electrophoresis was used to screen positive strains in July, 2016. MLST was performed for molecular typing analysis, and eBURST v3.0 software was used for cluster analysis.@*Results@#Among 360 strains of ESBLs-producing E. coli, the resistance rates to cefotaxime, tetracycline, trimethoprim-sulfamethoxazole and florfenicol were 100.0% (360/360), 82.2% (296/360), 81.1% (292/360) and 80.3% (289/360), respectively. The positive rate of CTX-M gene was 99.2% (357/360), in which the positive rate of CTX-M-9 was 35.6% (128/360) and the positive rate of CTX-M-1 was 24.4% (88/360). The positive rate of TEM gene was 26.9% (97/360). A total of 132 STs were identified through MLST. The predominant ST was ST10, accounting for 12.5% (45/360). Cluster analysis showed that CC10 was the most important clone group, including 39 ST clones, involving 148 strains (41.1%).@*Conclusions@#The drug resistances of ESBLs-producing E. coli to cefotaxime, tetracycline, trimethoprim-sulfamethoxazole and flurfenicol are serious in this rural area. There is a small-scale clustering of CC10 and transmission mode from animals to humans might exist.
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Objective@#To identify choroideremia and retinitis pigmentosa(RP)using next-generation sequencing(NGS)technology.@*Methods@#A cross-sectional study was adopted.The participants were two pedigrees that was suspected of RP in previous hospital treatments in He Eye Specialist Hospital between January 2017 and December 2018.The relevant medical and family history were collected, and the family tree was plotted.The visual acuity, intraocular pressure, fundus photography, electroretinogram(ERG), B-mode ultrasond, visual field, color vision, optical coherence tomography(OCT), and slit lamp assessment were performed on all subjects.Target region sequencing and Sanger sequencing were performed, deletion insertion of large fragments was verified by real-time quantitative PCR.This study followed the Helsinki Declaration and was approved by the Ethics Committee of Shenyang He Eye Hospital(NO. IRB[2017]k002.01)@*Results@#Two known pathogenic mutations were identified in CHM gene: EX9 DEL and c. 715C>T.Furthermore, the clinical diagnosis of choroideremia was confirmed.The Family 1 proband Ⅱ1 with the EX9 DEL hemizygous mutation had a special clinical phenotype, "Star" small piece intact choroid was visible in the macular fovea of both eyes.The patients in pedigree 2 carried the pathogenic mutation c. 715C>T, the proband Ⅲ1 carried a hemizygous mutation and the reddish island area in the fovea macula was seen in both eyes.The mother Ⅱ2 and grandmother I2 of proband carried heterozygous mutations, the degree of fundus atrophy was lighter than that of the proband Ⅲ1, the fundus had a mottled appearance, the optic disc boundary was clear, the blood vessel thickness was moderate, and the exposed choroid was visible in the fundus atrophy area.@*Conclusions@#This study is the first to identify two known pathogenic mutations in CHM gene, EX9 DEL and c. 715C>T in Asian Manchu and Han populations.The clinical phenotypes of female carriers with the c. 715C>t pathogenic mutation are different from those of male patients.The NGS technology may become a powerful tool to distinguish choroideremia from RP.
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Objective To identify choroideremia and retinitis pigmentosa ( RP ) using next-generation sequencing( NGS) technology. Methods A cross-sectional study was adopted. The participants were two pedigrees that was suspected of RP in previous hospital treatments in He Eye Specialist Hospital between January 2017 and December 2018. The relevant medical and family history were collected,and the family tree was plotted. The visual acuity, intraocular pressure, fundus photography, electroretinogram ( ERG ) , B-mode ultrasond, visual field, color vision,optical coherence tomography(OCT),and slit lamp assessment were performed on all subjects. Target region sequencing and Sanger sequencing were performed, deletion insertion of large fragments was verified by real-time quantitative PCR. This study followed the Helsinki Declaration and was approved by the Ethics Committee of Shenyang He Eye Hospital(NO. IRB[2017]k002. 01) Results Two known pathogenic mutations were identified in CHM gene:EX9 DEL and c. 715C>T. Furthermore, the clinical diagnosis of choroideremia was confirmed. The Family 1 probandⅡ1 with the EX9 DEL hemizygous mutation had a special clinical phenotype,"Star" small piece intact choroid was visible in the macular fovea of both eyes. The patients in pedigree 2 carried the pathogenic mutation c. 715C>T,the probandⅢ1 carried a hemizygous mutation and the reddish island area in the fovea macula was seen in both eyes. The motherⅡ2 and grandmother I2 of proband carried heterozygous mutations,the degree of fundus atrophy was lighter than that of the proband Ⅲ1, the fundus had a mottled appearance, the optic disc boundary was clear, the blood vessel thickness was moderate,and the exposed choroid was visible in the fundus atrophy area. Conclusions This study is the first to identify two known pathogenic mutations in CHM gene,EX9 DEL and c. 715C>T in Asian Manchu and Han populations. The clinical phenotypes of female carriers with the c. 715C>t pathogenic mutation are different from those of male patients. The NGS technology may become a powerful tool to distinguish choroideremia from RP.
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Objective@#To explore the relationship between polymorphisms of interleukin 17(IL-17) gene (rs4711998, rs763780) and the susceptibility of pneumoconiosis, and to provide a basis for prevention of high-risk groups of pneumoconiosis.@*Methods@#A total of 219 pneumoconiosis patients and 242 workers without pneumoconiosis were enrolled in the study. All subjects were photographed with high undulating X-rays anterior chest radiographs, diagnosed according to diagnostic criteria for pneumoconiosis. We collected 3 ml of peripheral venous blood of the study subjects. Polymorphism in IL-17A rs4711998 and IL-17F rs763780 locus were evaluated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).@*Results@#The IL-17A rs4711998 locus has AA, AG and GG genotypes, there was no the significant difference between case and control groups (P>0.05). IL-17F rs763780 had AA, AG and GG genotypes, there was a significant difference between case and control groups (P<0.05). Allele A and allele G were statistically significant difference between the case group and the control group (P<0.05).@*Conclusion@#No relationship was found between IL-17A gene polymorphisms at rs4711998 and silicosis. IL-17F rs763780 locus gene polymorphism is associated with susceptibility to pneumoconiosis. AG genotype and G allele may have a protective effect.
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Objective@#To explore the effect of comprehensive rehabilitation treatment of individualized exercise program on lung function, exercise ability, quality of life and biochemical indexes of coal workers’ pneumoconiosis patients, and to provide scientific and effective methods for rehabilitation treatment of coal workers' pneumoconiosis.@*Methods@#In Huaibei Coal Mine Occupational Disease Prevention and Control Hospital, the data of pneumoconiosis patients treated by pneumoconiosis department in the hospital were collected and sorted out. 80 patients were selected according to the inclusion and exclusion criteria. Using a random number table, they were randomly divided into two groups with 40 cases in each group. The data investigated in this study include the results before and after treatment. Pulmonary function index, BMI index, six-minute walking distance (6MWD) , quality of life questionnaire (SF-36) , hospital anxiety and depression scale (HADS) , st George's breathing questionnaire (sgrq) , c-reactive protein (CRP) and blood oxygen saturation (SpO2) were used to evaluate and compare the efficacy of the two groups.@*Results@#The lung function indexes of the test group were significantly higher than those of the control group after treatment (P<0.05) , including forced vital capacity, forced vital capacity in the first second, maximum expiratory flow, expiratory flow when vital capacity was 75% and expiratory flow when vital capacity was 25%. The forced vital capacity, the first-second forced vital capacity and the maximum expiratory flow of the patients in the test group were higher after treatment than before (P<0.05) . The six-minute walking distance of the test group was greater than that of the control group after treatment (P<0.05) . After treatment, the scores of st George’s breathing questionnaire in the test group were lower than those in the control group (P<0.05) . The scores of quality of life questionnaire in the test group were higher than those in the control group after treatment (P<0.05) .@*Conclusion@#The comprehensive rehabilitation treatment of individualized exercise program improved the endurance and exercise ability of pneumoconiosis patients, improved the respiratory status and quality of life of pneumoconiosis patients in Huaibei Coal Mine, improved the lung function of pneumoconiosis patients, and improved the forced vital capacity of patients, but the small airway function has not been significantly improved.