A novel variant in PAX6 as the cause of aniridia in a Chinese family.

BACKGROUND: Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. METHODS: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation. RESULTS: A novel heterozygous PAX6 nonsense mutation c.619A > T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotype related to the novel mutation included nystagmus, keratopathy, absence of iris, cataract and foveal hypoplasia. CONCLUSIONS: The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expanded the spectrum of the PAX6 mutation.

[Analysis of occupational health status of radiation workers in Guangdong Province].

Objective: To discuss the effect of low-dose ionizing radiation on the health of radiation workers, and provide a basis for occupational health risk assessment of radiation workers. Methods: In January 2020, 3165 radiation workers who performed radiation occupational health examinations in Guangzhou Prevention and Treatment Hospital for Occupational Disease from January 2017 to December 2019 were selected as the research objects, and compared and analyzed the health status of radiation workers with different examination types (pre-job, in-job and off-job) , types of work, gender, and length of service. Results: The off-job occupational radiological health examination was rare at 2.3% (74/3165) . The abnormal detection rate of chest radiographs, renal function, thyroid function, and blood routine of the radiation workers in-job group was higher than that of the pre-job group (P<0.05) . No statistical difference was found in the abnormal detection rate of the examination items during the in-job group and the off-job group (P>0.05) . The blood routine abnormality detection rate of medical application group and industrial application group were higher than those of nuclear fuel group (P<0.05) . The abnormal detection rate of blood pressure and renal function of male radiation workers was higher than that of females, while the abnormal detection rate of blood routine of females was higher than that of males (P<0.05) . The abnormal detection rate of electrocardiogram, chest radiograph, blood pressure, renal function, thyroid function, and blood routine of radiation workers increased with increasing working age (P<0.05) . Conclusion: Occupational health status of radiation workers is not optimistic. Radiation occupational health monitoring should be strengthened, special attention should be paid to off-job radiation occupational health examination, focusing on the sensitive indicators of sensitive personnel, improving radiation protection conditions, and effectively protecting the occupational health of radiation workers.

[Effect of low dose ionizing radiation on peripheral blood cells of radiation workers in nuclear power industry].

Objective: To investigate the effects of long-term ionizing radiation on peripheral blood cells of nuclear power workers. Methods: In March 2019, a total of 530 radiation exposed workers in the nuclear power industry who underwent in-service radiation occupational health examination in Guangzhou occupational disease prevention and control hospital in 2018 and with service age ≥1 year were selected as the radiation group. At the same time, 545 workers in nuclear power industry were selected as control group. According to the methods and requirements of GBZ 235-2011 ＂technical specification for occupational health monitoring of radiation workers＂ and GBZ 98-2017 ＂health requirements for radiation workers＂, the occupational health monitoring data were collected, and the change rules of peripheral blood cells in the two groups were analyzed. Results: Compared with the control group, the total number of WBC, NEUT, LYMP, Hb, MCV and MCHC in radiation group were lower than those in control group (P<0.05) , and the difference was statistically significant (P<0.05) . The MPV increased significantly (P<0.05) . Compared with the control group, the abnormal rate of WBC and Hb in the radiation group was higher than that in the control group (P<0.01) , but there was no significant difference in the abnormal rate of RBC and PLT (P>0.05) . Conclusion: Low dose ionizing radiation has a certain cumulative damage effect on peripheral blood cells of radiation workers in nuclear power industry. The change rules of different cell subtypes are different, and the changes of WBC and PLT appear earlier.

let-7i inhibits proliferation and migration of bladder cancer cells by targeting HMGA1.

BACKGROUND: Let-7 is one of the earliest discovered microRNAs(miRNAs) and has been reported to be down-regulated in multiple malignant tumors. The effects and molecular mechanisms of let-7i in bladder cancer are still unclear. This study was to investigate the effects and potential mechanisms of let-7i on bladder cancer cells. METHODS: Total RNA was extracted from bladder cancer cell lines. The expression levels of let-7i and HMGA1 were examined by quantitative real-time PCR. Cell viability was detected using the CCK-8 and colony formation assays, while transwell and wound healing assays were used to evaluate migration ability. Luciferase reporter assay and western blot were used to confirm the target gene of let-7i. RESULTS: Compared with the SV-40 immortalized human uroepithelial cell line (SV-HUC-1), bladder cancer cell lines T24 and 5637 had low levels of let-7i expression, but high levels of high mobility group protein A1 (HMGA1) expression. Transfection of cell lines T24 and 5637 with let-7i mimic suppressed cell proliferation and migration. Luciferase reporter assay confirmed HMGA1 may be one of the target genes of let-7i-5p. Protein and mRNA expression of HMGA1 was significantly downregulated in let-7i mimic transfected cell lines T24 and 5637. CONCLUSIONS: Up-regulation of let-7i suppressed proliferation and migration of the human bladder cancer cell lines T24 and 5637 by targeting HMGA1. These findings suggest that let-7i might be considered as a novel therapeutic target for bladder cancer.

[Risk factors associated with systemic inflammatory response syndrome after flexible ueteroscopic lithotripsy based on enhanced recovery after surgery].

Objective: To investigate the risk factors of systemic inflammatory response syndrome (SIRS) in patients undergoing flexible ureteroscopic lithotripsy based on enhanced recovery after surgery (ERAS). Methods: The clinical data of 243 kidney stone cases who underwent flexible ureteroscopic lithotripsy based on ERAS in the First Affiliated Hospital of Wannan Medical College from January 2016 to December 2017 were analyzed retrospectively. The cases were divided into two groups according to whether they had SIRS after surgery: SIRS group (26 cases) and non-SIRS group (217 cases). The age, gender, laterality of kidney stone, history of previous kidney stone surgery, degree of hydronephrosis, multiple kidney stones, length of operation time, white blood cell count of preoperative urine routine, result of preoperative urine culture, use of preoperative antibiotics, diabetes and other chronic diseases in the groups were collected and analyzed. Results: SIRS occurred in 26 cases in this study, which accounted for 10.7% (26/243). Multivariate analysis found that, moderate and severe hydronephrosis (OR=6.711, P=0.008), stone burden ≥2 cm (OR=10.353, P<0.001), length of operation time ≥ 60 min (OR=5.583, P=0.011), white blood cell count of preoperative urine routine ≥25×10(6)/L (OR=6.195, P=0.005), positive preoperative urine culture (OR=4.216, P=0.011), diabetes and other chronic diseases (OR=4.532, P=0.006) were the independent risk factors for postoperative SIRS (P<0.05). Conclusions: The occurrence of SIRS after flexible ureteroscopic lithotripsy based on ERAS is closely correlated with hydronephrosis, stone burden, length of operation time, white blood cell count of preoperative urine routine, positive preoperative urine culture, diabetes and other chronic diseases.

Decreased T cell expression of H/ACA box small nucleolar RNA 12 promotes lupus pathogenesis in patients with systemic lupus erythematosus.

Objective To investigate whether the aberrant expression of non-coding RNAs (ncRNAs) in T cells from patients with systemic lupus erythematosus (SLE) could contribute to the pathogenesis of lupus. Methods Expression profiles of RNA transcripts in T cells from three patients with SLE and three controls were analyzed by microarray analysis. Potentially aberrant-expressed ncRNAs were validated using T cell samples from 23 patients with SLE and 17 controls. Transfection studies and microarray analyses were conducted to search for any gene expression that is regulated by specific ncRNAs. Results Initial analysis revealed differential expression of 18 ncRNAs in SLE T cells. After validation, decreased expression of H/ACA box small nucleolar RNA 12 (SNORA12) was confirmed in SLE T cells (0.69-fold, P = 0.007) compared with normal T cells, and its expression level was inversely associated with higher SLE disease activity scores. Jurkat cells transfected with a plasmid encoding SNORA12 showed increased expression of two genes and decreased expression of 15 genes in Jurkat cells. These changes of gene expression were significantly associated with the SLE pathway in the Kyoto Encyclopedia of Genes and Genomes map using microarray analysis. Overexpression of SNORA12 altered the expression of CD69, decreased the expression of histone cluster 1 H4 family member k (HIST1H4K), inhibited the secretion of interferon gamma and the expression of HIST1H4K was increased in SLE T cells. Conclusion Among the ncRNAs, we found that the expression level of SNORA12, which belongs to the family of small nucleolar RNAs, was lower in SLE T cells and affected T cell function. This novel finding suggests that aberrant-expressed snoRNAs lead to dysfunction of T cells and may be involved in the immunopathogenesis of SLE.

Association between personal basic information, sleep quality, mental disorders and erectile function: a cross-sectional study among 334 Chinese outpatients.

Male erectile dysfunction (ED) may cause anxiety and depression, while mental disorders and sleep disturbances may also be closely related to ED. However, the exact nature of their relationship remains unclear, and whether personal basic background data affect erectile function is unknown. We conducted a cross-sectional study among Chinese outpatients with ED from January 2012 to December 2014. All the men answered a questionnaire collecting information about mental health status, sleep disturbances and personal data, underwent a physical examination and had a blood sample drawn. Sleep disturbances were assessed on the basis of a 19-item version of the Pittsburgh Sleep Quality Index, which includes questions on sleep patterns during the past month. Among the 462 patients, 128 patients with alcohol abuse, diabetes, hypertension, hyperlipidaemia, psychiatric drugs, neurologic injury or abnormal hormones were excluded from the study; 86.27% and 68.66% of the patients suffered from anxiety and depression respectively. Sleep quality and anxiety symptoms significantly affected erectile function, whereas personal income and education level had no significant effects. Our study suggested that it is necessary to pay attention to the psychological status of patients with ED, especially anxiety disorder. Sleep quality may be an important factor affecting erectile function according to the personal data.

[Treatment strategies of complex lesions in patients with acute Stanford type A dissection of important branches involvement].

Acute Stanford type A aortic dissection with important branches involved is more complex, could lead to organ malperfusion syndrome even organ failure. The understanding of pathological anatomy, classification, staging, and the pathophysiological change has increasingly mature, but not complete. In addition, the treatment strategy for complex lesions is diversified, some questions may not reach consensus. Fully understanding of the anatomical and pathophysiology is very important for surgeons to choose reasonable treatment strategy. As the rapid development of the basic research, imaging techniques and the concept of surgery procedures, the manage technique of Stanfrod type A dissection and branch vessels at the same time is getting seriously, the related issues also need further discussions.

Increased miR-223 expression in T cells from patients with rheumatoid arthritis leads to decreased insulin-like growth factor-1-mediated interleukin-10 production.

We hypothesized that the aberrant expression of microRNAs (miRNAs) in rheumatoid arthritis (RA) T cells was involved in the pathogenesis of RA. The expression profile of 270 human miRNAs in T cells from the first five RA patients and five controls were analysed by real-time polymerase chain reaction. Twelve miRNAs exhibited potentially aberrant expression in RA T cells compared to normal T cells. After validation with another 22 RA patients and 19 controls, miR-223 and miR-34b were over-expressed in RA T cells. The expression levels of miR-223 were correlated positively with the titre of rheumatoid factor (RF) in RA patients. Transfection of Jurkat cells with miR-223 mimic suppressed insulin-like growth factor-1 receptor (IGF-1R) and transfection with miR-34b mimic suppressed cAMP response element binding protein (CREB) protein expression by Western blotting. The protein expression of IGF-1R but not CREB was decreased in RA T cells. The addition of recombinant IGF-1-stimulated interleukin (IL)-10 production by activated normal T cells, but not RA T cells. The transfection of miR-223 mimic impaired IGF-1-mediated IL-10 production in activated normal T cells. The expression levels of SCD5, targeted by miR-34b, were decreased in RA T cells after microarray analysis. In conclusion, both miR-223 and miR-34b were over-expressed in RA T cells, but only the miR-223 expression levels were correlated positively with RF titre in RA patients. Functionally, the increased miR-223 expression could impair the IGF-1-mediated IL-10 production in activated RA T cells in vivo, which might contribute to the imbalance between proinflammatory and anti-inflammatory cytokines.

Synchronization of time-delayed chemically coupled burst-spiking neurons with correlated noises.

Synchronization of two time-delayed chemically coupled neurons with burst-spiking states is studied. Different from the previous study by N. Buric et al. (Phys. Rev. E 78, 036211 (2008)), it is found that exactly synchronous burst-spiking dynamics can occur for small coupling strengths and time delays. The results are confirmed by common time delays and non-equal time delays. When common noise is added to the two neurons, synchronization is enhanced as noise strength is increased. But the results are different for larger time delay and smaller time delay. When noises are correlated, it is found that only strong noises with large correlation coefficient can induce exact synchronization. Even one percent of independent noises can influence synchronization much.