Objective To explore the incidence and prognosis of citrin deficiency in Maoming,and to understand mutation types and frequency of SLC25A13 gene.Methods A total of 88 322 newborns born in Maoming from April 2022 to January 2025 were selected as research subjects.These specimens were screened using tandem mass spectrometry.Newborns with elevated citrulline levels or suspected clinical symptoms of citrin deficiency were recalled immediately for further genetic confirmation,and treated confirmed cases were followed up.Results Among 88 322 newborns,53 cases were positive for citrulline by tandem mass spectrometry,43 cases were recalled with positive initial screening,23 cases were still positive for citrulline after re-examination.Finally,1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)was clinically diagnosed,and 10 cases were diagnosed with SLC25A13 gene,of which 1 case was false negative.Therefore,the total positive predictive value was 18.87％(10/53),and the prevalence rate of NICCD in Maoming was 1/8029(11/88 322).A total of 5 mutation sites were detected in 10 neonates with NICCD gene diagnosis,and the top 3 mutation sites in the order of proportion were:c.852-855delTATG accounted for 65.0％(13/20),c.615+5G>A accounted for 15.0％(3/20),IVS16ins3kb accounted for 10.0％(2/20).Among the 11 cases,1 case refused treatment and died of liver failure,while the remaining 10 cases were developing well after standardized treatment.Conclusion The incidence of neonatal citrin deficiency in Maoming is significantly higher than in other areas.Tandem mass spectrometry enables rapid early detection of citrin deficiency,though false-negative results may occur in individual cases.Combining genetic sequencing can improve diagnostic accuracy,and achieve precise management of inherited metabolic diseases.

Objective To explore the incidence and prognosis of citrin deficiency in Maoming,and to understand mutation types and frequency of SLC25A13 gene.Methods A total of 88 322 newborns born in Maoming from April 2022 to January 2025 were selected as research subjects.These specimens were screened using tandem mass spectrometry.Newborns with elevated citrulline levels or suspected clinical symptoms of citrin deficiency were recalled immediately for further genetic confirmation,and treated confirmed cases were followed up.Results Among 88 322 newborns,53 cases were positive for citrulline by tandem mass spectrometry,43 cases were recalled with positive initial screening,23 cases were still positive for citrulline after re-examination.Finally,1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)was clinically diagnosed,and 10 cases were diagnosed with SLC25A13 gene,of which 1 case was false negative.Therefore,the total positive predictive value was 18.87％(10/53),and the prevalence rate of NICCD in Maoming was 1/8029(11/88 322).A total of 5 mutation sites were detected in 10 neonates with NICCD gene diagnosis,and the top 3 mutation sites in the order of proportion were:c.852-855delTATG accounted for 65.0％(13/20),c.615+5G>A accounted for 15.0％(3/20),IVS16ins3kb accounted for 10.0％(2/20).Among the 11 cases,1 case refused treatment and died of liver failure,while the remaining 10 cases were developing well after standardized treatment.Conclusion The incidence of neonatal citrin deficiency in Maoming is significantly higher than in other areas.Tandem mass spectrometry enables rapid early detection of citrin deficiency,though false-negative results may occur in individual cases.Combining genetic sequencing can improve diagnostic accuracy,and achieve precise management of inherited metabolic diseases.

The B-cell scaffold protein with ankyrin repeats 1(BANK1)is a B-cell scaffold protein 1 containing ankyrin repeats,which has been found to be associated with genetic variants in various autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis.Changes in the expression of the BANK1 gene in B cells are thought to be a key factor in genetic variants in autoimmune diseases.This article reviews the basic characteristics of BANK1 and its association with autoimmune diseases,aiming to provide innovative perspectives and research directions for the scientific research of autoimmune diseases.

The B-cell scaffold protein with ankyrin repeats 1(BANK1)is a B-cell scaffold protein 1 containing ankyrin repeats,which has been found to be associated with genetic variants in various autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis.Changes in the expression of the BANK1 gene in B cells are thought to be a key factor in genetic variants in autoimmune diseases.This article reviews the basic characteristics of BANK1 and its association with autoimmune diseases,aiming to provide innovative perspectives and research directions for the scientific research of autoimmune diseases.

OBJECTIVE: To assess the association of rs55829688 and rs75315904 polymorphisms of the lncRNA-GAS5 gene with susceptibility to systemic lupus erythematosus (SLE) in Guangxi population. METHODS: Peripheral venous blood samples were collected from the SLE group and control group. Following extraction of genomic DNA, SNPscan and Sanger sequencing were carried out to determine the genotypes for the rs55829688 and rs75315904 loci of the lncRNA-GAS5 gene. RESULTS: No difference was found between the two groups with regard to the genotypic frequencies for rs55829688 and rs75315904 (P > 0.05). However, the frequencies of C allele of rs55829688 between the two groups was significantly different (P < 0.05). In the SLE group, the frequencies of C allele and CT+CC genotype for rs55829688 among SLE patients with nephritis were significantly lower than those of SLE patients without nephritis (P < 0.05). In addition, haplotype analysis showed that the frequency of rs55829688 C/rs75315904 A allele in the SLE group was lower than that of the control group (P < 0.05). CONCLUSION In Guangxi population, the carrier status of rs55829688 C allele of the lncRNA-GAS5 gene may reduce the risk of SLE and its complicated nephritis, and the rs55829688 C/rs75315904 A haplotype may reduce the risk for SLE.
Humans ; Case-Control Studies ; China/epidemiology* ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Lupus Erythematosus, Systemic/genetics* ; Nephritis ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding/genetics*

Objective:To investigate the hemodynamic changes of the main arteries and veins of the extremities and the heart in patients with hypertrophic scar secondary to extensive burns after pressure treatment, and to analyze the relevant mechanisms.Methods:A retrospective before-after self-control study was conducted. From January 2017 to February 2022, 37 patients with hypertrophic scar secondary to extensive burns who met the inclusion criteria were hospitalized in the Burn Rehabilitation Department of Guangdong Industrial Injury Rehabilitation Hospital, including 25 males and 12 females, aged 23-52 years. The patients were admitted to the hospital within 12 weeks after wound healing, and within one week after admission, rehabilitation therapists, occupational therapists, and tailors custom-made pressure products such as full-body pressure garment, pressure pants, vests, split finger gloves, split finger socks, hoods, and plastic collars, with the pressure at each part maintained at 2.67-4.00 kPa when wearing. Before the first treatment with pressure products (hereinafter referred to as before pressure treatment) and at 1 h of the first treatment with pressure products (hereinafter referred to as 1 h of pressure treatment), color Doppler ultrasonography was performed to check the pulse rate of the axillary artery, the lumen diameter, peak systolic velocity (PSV), and resistance index of the axillary artery and femoral artery on the left side, the lumen diameter, cross-sectional area, and average blood flow velocity of the axillary vein and femoral vein, and the mitral valve E peak, mitral valve A peak, tricuspid valve E peak, aortic valve PSV, and pulmonary valve PSV of the heart; an optical chromatographic skin detector was used to detect the red color, red pigment, and surface brightness of the scar on the back of the hand to reflect the filling and distribution of the scar microvessels. Data were statistically analyzed with paired sample t test. Results:Compared with those before pressure treatment, the PSV of the axillary artery of patients was significantly slowed down at 1 h of pressure treatment ( t=55.42, P<0.01); the average blood flow velocity of the axillary vein was significantly accelerated ( t=-60.50, P<0.01); the pulse rate, lumen diameter, and resistance index of the axillary artery, as well as the lumen diameter and cross-sectional area of the axillary vein did not change obviously ( P>0.05); the average blood flow velocity of the femoral vein was significantly accelerated ( t=-80.52, P<0.01); the lumen diameter, PSV, and resistance index of the femoral artery, as well as the lumen diameter and cross-sectional area of the femoral vein had no significant change ( P>0.05); the mitral valve E peak and mitral valve A peak of the heart decreased significantly (with t values of 10.71 and 21.96, respectively, P<0.01); the tricuspid valve E peak of the heart increased significantly ( t=7.57, P<0.01); the PSV of the aortic valve and pulmonary valve of the heart did not change obviously ( P>0.05). At 1 h of pressure treatment, the red color and red pigment values of the scar on the back of the hand of patients were 15.3±1.1 and 16.8±1.2, respectively, which were significantly lower than 24.5±1.3 and 23.8±1.2 before pressure treatment (with t values of 8.32 and 8.04, respectively, P<0.01). The brightness value of the scar surface on the back of the hand of patients at 1 h of pressure treatment was similar to that before pressure treatment ( P>0.05). Conclusions:After pressure treatment for the hypertrophic scar in patients secondary to extensive burn, the average blood flow velocity of the axillary vein and femoral vein in patients are obviously accelerated, the PSV of the axillary artery is significantly slowed down, the peak values of mitral valve E and mitral valve A of the heart are significantly decreased, and the tricuspid valve E peak is significantly increased. These hemodynamic changes may be related to the reduction of microvascular blood flow in the local area of scar after systemic pressure treatment.

Objectives To investigate the effects of low level of ambient NO₂ on the death of cardiovascular and cerebrovascular diseases in Enshi city and to identify sensitive population, so as to provide a scientific basis for formulating health policies. Methods The data of air pollutants, meteorological factors and death of cardiovascular and cerebrovascular diseases in Enshi city from 2015 to 2018 were collected. The generalized additive model based on Poisson distribution was used to analyze the effects of low ambient NO₂ level on the death risk of cardiovascular and cerebrovascular diseases in Enshi city. A subgroup analysis was performed on age, gender, and season. Results The average concentrations of major gaseous air pollutants in Enshi city from 2015 to 2018 were NO₂ (21.40 μg/m³), SO₂ (9.68 μg/m³), CO (0.88 mg/m³), and O₃ (61.21 μg/m³), respectively, all of which did not exceed the national secondary standard. The results of single pollutant model analysis showed that each 1 μg/m3 increase in NO₂ concentration in lag0 day was associated with a 0.33% increase (95% CI: 0.06 - 0.72) (P>0.05) in mortality risk of cardiovascular and cerebrovascular diseases. In the female population, each 1 μg/m3 increase in NO2 concentration in lag01 day was associated with a 0.92% increase (95% CI: 0.26 - 1.56) (P<0.05) in mortality risk of cardiovascular and cerebrovascular diseases. In the cold season, each 1 μg/m3 increase in NO₂ concentration in lag0 day was associated with a 0.62% increase (95% CI: 0.12 - 1.12) (P<0.05) in mortality risk of cardiovascular and cerebrovascular diseases. The results of the two-pollutant model showed that after controlling other gaseous pollutants (SO₂, CO or O₃), the effect of NO₂ on the mortality risk of cardiovascular and cerebrovascular diseases in women and the whole population in cold season still existed. Conclusion The low ambient level of NO₂ in Enshi city was significantly associated with increased mortality risk of cardiovascular and cerebrovascular diseases in female population as well as in cold seasons in the whole population. Attention should be paid to the health protection of special populations in areas with low ambient pollution level of NO₂ in special seasons.

Objective To analyze the basic characteristics and variation trend of death causes of permanent residents in Enshi City during 2013-2018, to assess the burden of different diseases, and to provide a scientific basis for formulating disease prevention and control strategies. Methods The death monitoring data of permanent residents in Enshi City, Hubei Province from 2013 to 2018 was collected. The crude mortality, standardized mortality, life expectancy, potential years of life loss (PYLL), standard potential years of life loss (SPYLL), average years of life lost (AYLL), and annual percentage change (APC) were calculated to describe the distribution and trend of death causes. Results The average annual crude death rate and standardized death rate of residents in Enshi City from 2013 to 2018 were 679.43 per 100 000 and 615.02 per 100 000, respectively. The top 5 causes of death were circulatory system diseases, respiratory system diseases, malignant tumors, injuries, and digestive system diseases, accounting for 91.2% of the total deaths. Analysis of life expectancy found that the average life expectancy of local residents from 2013 to 2018 was 78.02 years, and the value in the male group (75.57 years) was lower than that in the female group (80.78 years). Life loss analysis revealed that PYLL caused by various diseases was 171 620 person-years, SPYLL was 171 284.62 person-years, and AYLL was 15.03 years/person in Enshi City from 2013 to 2018. Among all the death causes, the top five in terms of life loss were injuries, malignant tumors, circulatory diseases, respiratory diseases and digestive diseases. Conclusion From 2013 to 2018, the death rate of residents in Enshi City was relatively higher compared with those in other cities in China, the average annual crude death rate was on the rise, and the average annual standardized death rate was on the decline, indicating a highly ageing region. Chronic diseases such as circulatory system diseases, malignant tumors, and respiratory diseases, as well as injuries were the main death causes and caused a heavy burden of diseases, which should be the focus of future prevention and control work. Considering the higher levels of death and life loss indicators of male residents than those of women, targeted prevention and control measures should be taken to narrow the gap between men and women and improve the overall life quality of the whole population.

Identification of genetic variants via high-throughput sequencing (HTS) technologies has been essential for both fundamental and clinical studies. However, to what extent the genome sequence composition affects variant calling remains unclear. In this study, we identified 63,897 multi-copy sequences (MCSs) with a minimum length of 300 bp, each of which occurs at least twice in the human genome. The 151,749 genomic loci (multi-copy regions, or MCRs) harboring these MCSs account for 1.98％of the genome and are distributed unevenly across chromosomes. MCRs containing the same MCS tend to be located on the same chromosome. Gene Ontology (GO) anal-yses revealed that 3800 genes whose UTRs or exons overlap with MCRs are enriched for Golgi-related cellular component terms and various enzymatic activities in the GO biological function cat-egory. MCRs are also enriched for loci that are sensitive to neocarzinostatin-induced double-strand breaks. Moreover, genetic variants discovered by genome-wide association studies and recorded indbSNP are significantly underrepresented in MCRs. Using simulated HTS datasets, we show that false variant discovery rates are significantly higher in MCRs than in other genomic regions. These results suggest that extra caution must be taken when identifying genetic variants in the MCRs via HTS technologies.

Objective: To investigate the characteristics of polymorphism distribution at the functional insertion/deletion locus rs145204276I/D in the promoter region of LncRNA GAS5 (growth-arrest specific transcript 5) gene in population of Guangxi district, and analyze the differences of polymorphism distribution of rs145204276I/D in the populations between Guangxi and other regions. Methods: SNPscan high-throughput sequencing technique was used to detect rs145204276I/D locus in genotype of GAS5 gene of 289 subjects from Guangxi district, and the distribution frequencies of genotypes and alleles between different genders were analyzed. The differences of polymorphism distribution were compared with those in the database from the population of European (EUR), Japanese in Tokyo (JPT), South Asian (SAS), Admixed American (AMR), African (AFR), Chinese Han in Beijing (CHB), Nanjing, Jilin, Chongqing and Kunming which were published by 1000 genome project or reported in literatures. Results: The frequencies of I/I, I/D and D/D genotypes of rs145204276I/D in GAS5 were 48.4%, 43.6% and 8.0%, respectively. The frequencies of I and D alleles were 70.2% and 29.8%, respectively. No significant difference of genotype and allele frequencies of rs145204276I/D was observed between different genders in Guangxi population ( P ＞0.05). The genotype and allele frequencies of rs145204276I/D in Guangxi population were significantly different from JPT, EUR, AFR, SAS and AMR populations ( P ＜0.05), but were not significantly different from those of Chinese Han population in Beijing, Nanjing, Jilin, Chongqing and Kunming ( P ＞0.05). Conclusion The distribution of LncRNA GAS5 gene rs145204276I/D polymorphism in Guangxi population was not different between men and women, and the polymorphism of LncRNA GAS5 gene was different from those of other regions in the world.