AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

Objective To investigate the levels and influencing factors for eye lens dose of interventional radiology workers, and to provide a basis for reasonable and scientific radiation protection. Methods Thermoluminescent eye lens dosimeters were used to monitor the left and right eye lens doses of interventional radiology workers in real time during different surgical positions and varying eye protection conditions. The annual eye lens doses for the operators were estimated based on their yearly workload. The differences in eye lens doses under different conditions were analyzed and the influencing factors were identified. Results For individual interventional operations, the range of personal dose equivalent H_p(3) of the left eye of interventional radiology workers was ( < MDL ~ 418.33) μSv, the median (Q₁, Q₃) was 9.29 ( < MDL, 40.79) μSv, and the mean was 40.79 ± 70.36 μSv. The estimated annual eye lens doses were 4.05 mSv and 17.80 mSv based on the median and mean values of the eye lens dose of a single operation multiplied by average annual frequency of operations per person, respectively. The left eye lens dose was higher than the right eye lens dose of the same operator (Z = −4.24, P < 0.05), and the dose of the right eye lens was strongly positively correlated with that of the left eye lens. The left eye lens dose of the first surgeon was higher than that of the second surgeon in the same operation (Z = −3.10, P < 0.05). The eye lens dose was influenced by operator position (χ² = 9.149, P = 0.002, OR = 8.343), eye protection (χ² = 4.619, P = 0.032, OR = 4.352), and air kerma area product (χ² = 8.032, P = 0.005, OR = 5.488). Conclusion According to the results of this study, a significant portion of interventional operators have eye lens doses that approach or exceed international occupational dose limits. It is recommended to pay attention to the operation frequency of the first operator and the air kerma area product of interventional operation, and strengthen radiation protection and dose monitoring for the eye lens of interventional radiology workers.

BACKGROUND:As a dominant breed pig in southwest China,the southern Yunnan small-ear pig has been widely used as an experimental animal in the basic research of other disciplines,but there are still no reports on its application in anterior cruciate ligament reconstruction. OBJECTIVE:To establish a large animal model of the southern Yunnan small-ear pig with anterior cruciate ligament with autologous Achilles tendon was established. METHODS:Twenty adult female Yunnan small-ear pigs were equally randomized into two groups.In the autologous Achilles tendon group,the right knee anterior cruciate ligament was reconstructed with autologous Achilles tendon as a graft,while in the sham-operated group,a similar operation was performed on the right knee without any treatment of the anterior cruciate ligament.General conditions of each pig were observed and recorded before and 12 months after surgery.Ligaments and grafts were taken for gross observation and MAS scoring.Hematoxylin-eosin staining was performed to observe morphological characteristics of ligaments.The staining and arrangement of type I and type Ⅲ collagen were evaluated by immunohistochemistry.Transmission electron microscopy was used to observe the type,size,diameter,ratio,and distribution of collagen fibers in ligaments. RESULTS AND CONCLUSION:All animals had normal diet and activity,good wound healing,no obvious inflammatory reaction,no local purulent infection,and no significant changes in mental and urinary conditions compared with those before surgery.The reconstructed cruciate ligament of the knee was intact,with no stiffness and normal range of motion.Both the anterior drawer and Lachman tests were negative.Gross observation of the graft:12 months after surgery,the grafts was in good position,with good integrity,obvious tension,ligament color close to the original anterior cruciate ligament,and complete surface synovial coverage.Most of the intraarticular ligaments in the autologous Achilles tendon group were defined as MAS I type and a few were defined as MAS Ⅱ type.In the sham-operated group,the intraarticular ligament was defined as MAS I type.Hematoxylin-eosin staining indicated that,12 months after surgery,collagen fibers in the autologous Achilles tendon group began to appear bundled,isotropic,and uniformly arranged,with more obvious isotropic corrugations,and the nuclei were mainly linear or spindle-shaped,which were similar to those in normal anterior cruciate ligament tissue of the sham-operated group.Immunohistochemistry results indicated that,12 months after surgery,there was a higher expression of type I collagen and significantly less expression of type Ⅲ collagen in the reconstructed anterior cruciate ligament in the autologous Achilles tendon group.The degree of type I and type Ⅲ staining was similar in the two groups.Under the transmission electron microscope,the diameter,arrangement and density of collagen fibers in the reconstructed anterior cruciate ligament of the autologous Achilles tendon group were similar to those of the original anterior cruciate ligament at 12 months after surgery,indicating that the ligament remodeling process had been basically completed in the autologous Achilles tendon group at 12 months after surgery.Through a comprehensive evaluation of animal general conditions,ligament general view,MAS score,hematoxylin-eosin staining,immunohistochemistry,and transmission electron microscopy observation,we successfully established a large animal model of anterior cruciate ligament reconstruction using autogenous Achilles tendon in southern Yunnan small-ear pigs,with good morphological,histological and ultrastructural results.

Objective:To explore the risk factors of all-cause death in hypertensive patients in the community.Methods:A cohort of 4 049 hypertensive patients who participated in annual health checkups at Xinzhuang Community Health Service Centre of Shanghai Minhang district from January to December 2012 were enrolled in the study. All-cause death was the endpoint event of this study, and patients were divided into a fatal group and a survival group. The collection date for the endpoint event was December 2022. A multivariate Cox regression model was used to analyse the independent risk factors of all-cause mortality among hypertensive patients in the community.Results:Among 4 049 patients aged (67.9±7.1) years, 1 856 (45.8%) were males. There were 610 cases in the fatal group and 3 439 cases in the survival group. Multivariate Cox proportional regression showed that male gender ( HR=1.446, 95% CI: 1.200-1.742, P<0.001), older age ( HR=1.130, 95% CI: 1.118-1.143, P<0.001), higher waist-to-height ratio ( HR=8.117, 95% CI: 2.235-29.481, P=0.001), positive urinary protein ( HR=2.974, 95% CI: 2.202-4.016, P<0.001), high fasting blood glucose ( HR=1.070, 95% CI: 1.012-1.131, P=0.017), and history of stroke ( HR=1.819, 95% CI: 1.414-2.340, P<0.001) were independent risk factors for all-cause mortality in hypertensive patients, while exercise≥1/week ( HR=0.816, 95% CI: 0.668-0.996, P=0.046) and taking lipid-lowering medications ( HR=0.459, 95% CI: 0.223-0.947, P=0.035) were protective factors for all-cause mortality. Conclusion:For hypertensive patients, male gender, older age, higher waist-to-height ratio, positive urinary protein, high fasting blood glucose, and history of stroke are risk factors for all-cause mortality, while exercise≥1/week and taking lipid-lowering medications are protective factors.

Objective:To analyze the association between sleep status and ambulatory blood pressure monitoring indicators in community-dwelling hypertensive patients.Methods:It was a cross sentional study. Hypertensive patients who underwent 24-hour ambulatory blood pressure monitoring from May 2021 to April 2023 in Shanghai Xinzhuang Town were enrolled. The demographic information and sleep status of patients were obtained from the questionnaire. A TM-2430 blood pressure monitor was used to measure 24-hour ambulatory blood pressure, and the relevant indicators, including blood pressure level and blood pressure coefficient of variation were documented. The association between sleep status and blood pressure indicators was analyzed with multivariate linear regression model.Results:A total 1 135 patients aged (65.07±12.61) years were enrolled, and 473 (41.67%) of whom were males. The sleep time was<7 hours in 76 cases, 7- 8 hours in 219 cases and >8 hours in 840 cases; the bedtime was earlier than 22∶00 in 415 cases, between 22∶00 and 23∶00 in 474 cases and later than 23∶00 in 246 cases; the wake-up time was before 6∶00 in 230 cases, between 6∶00 and 7∶00 in 521 cases and after 7∶00 in 384 cases. Multivariate linear regression analysis showed that after controlling for gender and age, the sleep time was negatively associated with diurnal, noctumal and 24-hour diastolic blood pressure levels (all P<0.05), and positively associated with diurnal and noctumal systolic blood pressure coefficient of variation, noctumal diastolic blood pressure coefficient of variation, and 24-hour systolic blood pressure coefficient of variation (all P<0.05).The bedtime was positively associated with diurnal, noctumal and 24-hour diastolic blood pressure (all P<0.05), diastolic blood pressure (all P<0.05); and negatively associated with diurnal systolic blood pressure coefficient of variation, diurnal diastolic blood pressure coefficient of variation, noctumal systolic blood pressure coefficient of variation, 24-hour systolic blood pressure coefficient of variation, and 24-hour diastolic blood pressure coefficient of variation (all P<0.05). The wake-up time was positively associated with diurnal systolic blood pressure, diurnal, noctumal and 24-hour diastolic blood pressure (all P<0.05), and positively associated with diurmal systolic blood pressure and diastolic blood pressure (both P<0.05). Conclusion:Sleep status is closely associated with ambulatory blood pressure monitoring indicators in community-dwelling hypertensive patients.

Animals ; SARS-CoV-2 ; Antibodies, Neutralizing ; Macaca mulatta ; COVID-19/prevention & control* ; Antibodies, Viral ; Vaccines

[This corrects the article DOI: 10.1016/j.apsb.2021.04.013.].

[This corrects the article DOI: 10.1016/j.apsb.2021.04.013.].

Objective:To explore the mechanism of dendritic cells(DCs),novel regulatory B cells(B10 cells)and Th17/Treg imbalance in the pathogenesis of patients with chronic obstructive pulmonary disease(COPD)and their correlation with lung function.Methods:According to the"Guidelines for the Diagnosis and Treatment of Chronic Obstructive Pulmonary Disease"a total of 93 COPD patients were prospectively selected from the Ninth People's Hospital of Suzhou from May 2019 to December 2021,and 50 healthy subjects were selected as the control group.The patients were followed up for 1 year to observe the occurrence of acute exacer-bation COPD(AECOPD),and divided them into stable COPD group and AECOPD group.The course of disease,modified British Medical Research Society dyspnea index(mMRC)classification,COPD assessment test(CAT)score,BODE index score,6 min walking distance(6MWD),arterial partial pressure of oxygen(PaO2),arterial carbon dioxide Partial pressure(PaCO2)were com-pared between the two groups;compared the levels of FEV1,FVC,FEV1/FVC,and the percentage of FEV1 to predicted value(FEV1/Pred)in the three groups with peripheral blood DCs,B10 cells,Th17 cells,Treg cells and Th17/Treg,IL-12,IL-10,IL-17A and TGF-β1 levels.To analyze the correlation between peripheral blood DCs cells,B10 cells and Th17/Treg imbalance and pulmonary function indexes in AECOPD group.Logistic regression analysis of independent risk factors for AECOPD.Results:A total of COPD pa-tients had AECOPD events(40.86%).The course of disease,mMRC grade,CAT score,BODE index score,and PaCO2 in AECOPD group were significantly higher than those in COPD stable group(P<0.05),6MWD and PaO2 were significantly lower than those in COPD group.The levels of FEV1,FVC,FEV1/FVC and FEV1/Pred in the AECOPD group were significantly lower than those in the stable COPD group and control group(P<0.05);the levels of FEV1,FVC,FEV1/FVC and FEV1/Pred in the stable COPD group were significantly lower than those in control group(P<0.05).DCs,B10 cells and Treg cells in AECOPD group were significantly lower than those in stable COPD group and control group,while Th17 expression level and Th17/Treg were significantly higher than that in stable COPD group and control group(P<0.05).DCs,B10 cells and Treg cells in stable COPD phase were significantly lower than those in control group,while Th17 expression level and Th17/Treg were significantly higher than control group(P<0.05).The ex-pression levels of IL-12,IL-10 and TGF-β1 in the AECOPD group were significantly lower than those in the stable COPD group and control group(P<0.05),while IL-17A was significantly higher than that in the stable COPD group and control group.The expression levels of IL-12,IL-10 and TGF-β1 in patients with stable COPD were significantly lower than control group,while IL-17A was signifi-cantly higher than control group(P<0.05).Pearson analysis showed that peripheral blood DCs,B10 cells were positively correlated with FEV1,FVC,FEV1/FVC and FEV1/Pred levels(P<0.05),while Th17/Treg was positively correlated with FEV1,FVC,FEV1/FVC and FEV1/Pred levels all were negatively correlated(P<0.05).Logistic regression analysis found that mMRC grade and Th17/Treg were independent risk factors of AECOPD(P<0.05).Conclusion:With the progression of COPD,DCs,B10 cells,Th17 cells,Treg cells and Th17/Treg gradually become unbalanced,resulting in disordered expression levels of pro-inflammatory and anti-inflamma-tory factors.Peripheral blood DCs and B10 cells were positively correlated with lung function levels,while Th17/Treg were negatively correlated with lung function levels.mMRC grade and Th17/Treg are independent risk factors of AECOPD.Therefore,actively inter-vening in the imbalanced state of immune function in patients has specific and important clinical significance in reducing the immune damage of lung tissue and promoting the improvement of lung function.