Background Previous studies found that high temperature and heatwave increase the risk of traffic injuries. The complex road conditions in Yunnan Province result in frequent traffic accidents. However, there is limited evidence on the correlation between heatwave and traffic injuries in Yunnan Province. Objective To assess the association between heatwave events and traffic injuries, to estimate its disease burden, and to identify relevant sensitive groups. Methods We collected data on traffic injury cases and concurrent meteorological information from four surveillance sites in Yunnan Province, China: Dali, Lufeng, Zhaoyang, and Qilin from May to September each year from 2015 to 2023. Traffic injury cases refer to patients who visited the outpatient or emergency departments of local surveillance hospitals for the first time due to traffic injuries. Meteorological data were derived from the fifth generation atmosphericreanalysis dataset of the global climate provided by the European Centre for Medium-Range Weather Forecasts. A time-stratified case-crossover design combined with distributed lag non-linear model was used to analyze the association between short-term exposure to heatwave and traffic injuries. We also conducted subgroup analyses by sex, age, occupation, injury cause, activity at the time of injury occurrence, and severity of injury. Results A total of 34764 traffic injury surveillance cases were included in the analysis. The risk of traffic injuries occurred during heatwave was 1.13 times (95%CI: 1.07, 1.20) greater than those occurred during non-heatwave, and 2.64% (95%CI: 1.49%, 3.73%) of traffic injuries were attributed to heatwave exposure throughout the study period. The results of stratified analysis showed greater impacts of heatwave on the risk of traffic injuries in female [odds ratio (OR)=1.17, attributable fraction (AF)=3.23%], people aged 15-64 years (OR=1.13, AF=2.68%), farmers/workers (OR=1.22, AF=4.07%), people with non-motor vehicle traffic injuries (OR=1.17, AF=3.24%), people who were driving or riding when injuries occurred (OR=1.12, AF=2.43%), and people with minor injuries (OR=1.18, AF=3.49%) ( P<0.05). Longer duration [excess risk (ER)=0.99%] and greater intensity (ER=4.12%) of heatwave had greater impacts on the risk of traffic injuries (P<0.05). Conclusion Heatwave events are associated with an increased risk of traffic injuries. Female, people aged 15-64, farmers/workers, people with non-motor vehicle traffic injuries, those injured while driving/riding a vehicle, and people with minor injuries are particularly vulnerable. The findings suggest that targeted mitigation and adaptation measures should be taken to address the risk of traffic injuries associated with extreme climate events.

Objective:To investigate the clinical characteristics and prognosis of fetuses with HNF1B gene variants. Methods:Fifty-two fetuses with HNF1B gene variants diagnosed by chromosomal copy number variation sequencing and/or whole exome sequencing at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2024 were retrospectively enrolled in this study, including 47 cases of 17q12 microdeletion and five cases of HNF1B point mutations. Prenatal ultrasound features, pregnancy outcomes, and postnatal manifestations were summarized and analyzed using descriptive statistics. Results:The prenatal ultrasound features of the 52 fetuses included enhanced renal parenchymal echo in 43 cases (82.7%), renal cysts in 15 cases (28.8%), enlarged kidney volume in 14 cases (26.9%), and pyelectasis in 13 cases (25.0%). Parental verification was completed for 35 cases, with 71.4% (25/35) being de novo mutations and 28.6% (10/35) inherited from either parent. Apart from eight cases with unknown pregnancy outcome (six cases were lost to follow-up, two cases refused to be followed up), the other 44 cases were successfully followed up, among which 68.2% (30/44) terminated the pregnancies and 31.8% (14/44) continued, resulting in live births. Prenatal ultrasound indicated renal abnormalities in all 14 live births, while postnatal follow-up showed seven cases with normal kidneys, one with reduced bilateral renal cysts, one with alleviated bilateral pyelectasis, four with unimproved renal structural abnormalities, and one who did not undergo a re-examination. Conclusion:The rate of renal abnormalities diagnosed by prenatal ultrasound in fetuses with HNF1B gene variants is high, and most of the pregnancies are terminated, although the renal sturctural abnormalities may improve after birth.

Objective:To investigate the clinical characteristics and prognosis of fetuses with HNF1B gene variants. Methods:Fifty-two fetuses with HNF1B gene variants diagnosed by chromosomal copy number variation sequencing and/or whole exome sequencing at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2024 were retrospectively enrolled in this study, including 47 cases of 17q12 microdeletion and five cases of HNF1B point mutations. Prenatal ultrasound features, pregnancy outcomes, and postnatal manifestations were summarized and analyzed using descriptive statistics. Results:The prenatal ultrasound features of the 52 fetuses included enhanced renal parenchymal echo in 43 cases (82.7%), renal cysts in 15 cases (28.8%), enlarged kidney volume in 14 cases (26.9%), and pyelectasis in 13 cases (25.0%). Parental verification was completed for 35 cases, with 71.4% (25/35) being de novo mutations and 28.6% (10/35) inherited from either parent. Apart from eight cases with unknown pregnancy outcome (six cases were lost to follow-up, two cases refused to be followed up), the other 44 cases were successfully followed up, among which 68.2% (30/44) terminated the pregnancies and 31.8% (14/44) continued, resulting in live births. Prenatal ultrasound indicated renal abnormalities in all 14 live births, while postnatal follow-up showed seven cases with normal kidneys, one with reduced bilateral renal cysts, one with alleviated bilateral pyelectasis, four with unimproved renal structural abnormalities, and one who did not undergo a re-examination. Conclusion:The rate of renal abnormalities diagnosed by prenatal ultrasound in fetuses with HNF1B gene variants is high, and most of the pregnancies are terminated, although the renal sturctural abnormalities may improve after birth.

Objective:To preliminarily investigate the correlation between right atrial and right ventricular myocardial strain, assessed by two-dimensional speckle-tracking echocardiography (2D-STE), and early death in patients after left ventricular assist device (LVAD) implantation.Methods:A total of 39 patients with end-stage heart failure who underwent LVAD implantation were prospectively included in the First Affiliated Hospital of Xi′an Jiaotong University from April 2022 to March 2024. Routine transthoracic echocardiography (TTE) images were obtained within 3 days before LVAD implantation for all patients to comprehensively assess left ventricular and right ventricular function. The right ventricular free wall longitudinal strain (RVFWSL), right ventricular four-chamber longitudinal strain (RV4CSL), right atrial reservoir strain (RASr), conduit strain (RAScd), and contraction strain (RASct) were measured by using 2D-STE. The primary endpoint was early postoperative mortality. The patients were divided into survival group and death group based on whether died within 3 months after LVAD implantation.Results:Of all the patients, five cases died in hospital after LVAD implantation, with 4 deaths attributed to right heart failure and 1 death to malignant arrhythmia. The RVFWSL and RV4CSL (absolute values) in the death group were significantly lower than those in the survival group (both P<0.05). Cox multivariate regression analysis showed that RVFWSL and RV4CSL were risk factors for death within 3 months [ HR: 0.521(95% CI=0.275-0.986), P=0.045; HR: 0.491(95% CI=0.252-0.958), P=0.037]. Further ROC curve analysis revealed that the diagnostic cutoff value for RVFWSL in predicting death within 3 months was ≤|-12.1|%, with the area under the curve (AUC) of 0.938(0.812-0.990), and the diagnostic cutoff value for RV4CSL was ≤|-14.2|%, with an AUC of 0.926(0.796-0.985). Conclusions:In patients with end-stage heart failure, RVFWSL ≤ |-12.1|% and RV4CSL ≤ |-14.2|% are associated with an increased risk of death within 3 months after LVAD implantation.

Objective:To investigate the predictive value of controlling nutritional status (CONUT) score in the prognosis of patients with advanced diffuse large B-cell lymphoma (DLBCL).Methods:A retrospective case series study was performed. The clinical data of 654 patients newly diagnosed with advanced DLBCL diagnosed in 7 medical centers in Huaihai Lymphoma Working Group from October 2009 to January 2022 were retrospectively collected. All the patients received rituximab-based immune chemotherapy regimens. The patients were randomly assigned to the training set (458 cases) and the validation set (196 cases) in a 7:3 ratio. The clinicopathological data of patients were collected, and the CONUT score was calculated based on albumin, lymphocyte count, and total cholesterol. The optimal critical value of CONUT scote was determined by using MaxStat method. Kaplan-Meier method was used to draw survival curves; Cox proportional hazards model was used to make univariate analysis and multivariate analysis on the factors influencing overall survival (OS). The efficacy of CONUT score in combination with the International prognostic index (IPI) and an enhanced IPI (NCCN-IPI) in predicting OS was evaluated by using receiver operating characteristic (ROC) curves.Results:The median follow-up time of 654 patients was 38.1 months (95% CI: 35.3 months- 40.9 months), and the 5-year OS rate was 49.2%. According to the MaxStat method, the optimal critical value for CONUT score was determined to be 6 points. All the patients were classified into the normal nutritional status group (CONUT score ≤ 6 points, 489 cases) and the poor nutritional status group (CONUT score > 6 points, 165 cases). The results of the multivariate analysis showed that CONUT score > 6 points, male, lactate dehydrogenase >240 U/L, high white blood cell count, low hemoglobin level and age > 60 years were independent risk factors for OS of patients with advanced DLBCL (all P < 0.05). Patients in the poor nutritional status group (CONUT score > 6 points) had worse OS compared with that in the normal nutritional status group in the overall cohort of advanced DLBCL. Subgroup analysis revealed that among patients with Eastern Cooperative Oncology Group-performance status (ECOG PS) score < 2 points, IPI low-intermediate risk, IPI intermediate-high risk, NCCN-IPI low-intermediate risk, and NCCN-IPI intermediate-high risk, the patients in the poor nutritional status group (CONUT score > 6 points) had worse OS compared with that in the normal nutritional status group (CONUT score ≤ 6 points) (all P < 0.05). Conclusions:CONUT score has a certain value in the assessment of the prognosis of patients with advanced DLBCL, and its predictive efficacy is further improved when combined with IPI and NCCN-IPI.

Objective:To preliminarily investigate the correlation between right atrial and right ventricular myocardial strain, assessed by two-dimensional speckle-tracking echocardiography (2D-STE), and early death in patients after left ventricular assist device (LVAD) implantation.Methods:A total of 39 patients with end-stage heart failure who underwent LVAD implantation were prospectively included in the First Affiliated Hospital of Xi′an Jiaotong University from April 2022 to March 2024. Routine transthoracic echocardiography (TTE) images were obtained within 3 days before LVAD implantation for all patients to comprehensively assess left ventricular and right ventricular function. The right ventricular free wall longitudinal strain (RVFWSL), right ventricular four-chamber longitudinal strain (RV4CSL), right atrial reservoir strain (RASr), conduit strain (RAScd), and contraction strain (RASct) were measured by using 2D-STE. The primary endpoint was early postoperative mortality. The patients were divided into survival group and death group based on whether died within 3 months after LVAD implantation.Results:Of all the patients, five cases died in hospital after LVAD implantation, with 4 deaths attributed to right heart failure and 1 death to malignant arrhythmia. The RVFWSL and RV4CSL (absolute values) in the death group were significantly lower than those in the survival group (both P<0.05). Cox multivariate regression analysis showed that RVFWSL and RV4CSL were risk factors for death within 3 months [ HR: 0.521(95% CI=0.275-0.986), P=0.045; HR: 0.491(95% CI=0.252-0.958), P=0.037]. Further ROC curve analysis revealed that the diagnostic cutoff value for RVFWSL in predicting death within 3 months was ≤|-12.1|%, with the area under the curve (AUC) of 0.938(0.812-0.990), and the diagnostic cutoff value for RV4CSL was ≤|-14.2|%, with an AUC of 0.926(0.796-0.985). Conclusions:In patients with end-stage heart failure, RVFWSL ≤ |-12.1|% and RV4CSL ≤ |-14.2|% are associated with an increased risk of death within 3 months after LVAD implantation.

In this study, in order to overcome the shortcomings of the current methods used to identify Bifidobacterium animalis, such as long time, complicated operation and low adaptability of experimental environment, specific primer probes were designed based on ERIC-PCR technology to identify and detect B.animalis.Based on the genomic DNA of B.animalis HP-B1124, the ERIC-PCR reaction conditions of B.animalis HP-B1124 were optimized, and the ERIC-PCR fragments were obtained one by one and sequenced.Two pairs of specific primer probes were designed.The accuracy, specificity, limitation and universality of the two pairs of primer probes were evaluated, and the two pairs of specific primer probes were used for testing the products containing B.animalis in the commercially published formula.The two pairs of specific primer probes designed in this study could be used for identified strains of B.animalis more simply, quickly and targeted.This method has optimized the current relatively traditional methods of pure culture and plate counting identification of B.animalis, and has solved the high requirements of SNP genotyping technology and real-time fluorescence quantitative PCR method for experimental equipment and reagents in the identification of B.animalis to a certain extent.It has the characteristics of low cost, high specificity and earn a broad market development prospect.

OBJECTIVE: To explore the genetic etiology in four patients with hyperbilirubinemia, and discuss the correlation between clinical characteristics and molecular basis. METHODS: The data of clinical manifestation and auxiliary examinations were collected. Genomic DNA of the four patients was extracted and analyzed by next-generation sequencing using the panel including genes involved in hereditary metabolic liver diseases. Suspected variants were verified by Sanger sequencing. RESULTS: All of the four patients were males with normal liver enzymes. It was revealed that all the patients had heterozygous variants, among which c.3011C>T, c.2443C>T and c.2556del were the variants which have not been reported previously. CONCLUSION All of the patients were diagnosed as Dubin-Johnson syndrome (DJS) caused by ABCC2 gene variants. The novel variants add to the spectrum of genetic variants of the disease. Because of the favorite prognosis, precise diagnosis can greatly reduce the psychological pressure of patients and avoid excessive treatments. At the same time, it could provide pertinent genetic counseling for the families.
DNA ; Female ; Heterozygote ; Humans ; Jaundice, Chronic Idiopathic/genetics* ; Male ; Multidrug Resistance-Associated Protein 2 ; Multidrug Resistance-Associated Proteins/genetics* ; Phenotype

OBJECTIVE: To carry out prenatal diagnosis for a fetus with normal ultrasonographic finding at 20 weeks' gestation but a copy number variant(CNV) of 13q indicated by non-invasive prenatal test (NIPT). METHODS: Karyotyping analysis and chromosomal CNV assay were carried out on the amniotic fluid sample. Parental peripheral blood sample was collected for chromosomal analysis. Detailed fetal ultrasound scan was carried out to rule out structural abnormalities of the fetus. RESULTS: The fetus was detected with a heterozygous 10.14 Mb deletion at 13q21.1q21.32, which has originated from the phenotypically normal mother. No apparent karyotypic abnormality was detected in the fetus and its parents. No ultrasonic abnormality was found in the fetus. CONCLUSION Both the fetus and its mother have carried a heterozygous 10.14 Mb deletion at 13q21.1q21.32 and presented normal phenotypes.Combined with literature review, the segmental deletion was judged to be a benign variant.
Female ; Genetic Counseling ; Humans ; Karyotyping ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To carry out genetic analysis for a family with a fetus manifesting bilateral polycystic renal dysplasia and oligohydramnios at 16 gestational week and a previous history for fetal renal anomaly. METHODS: Ultrasound scan was carried out to detect the morphological changes. Following genetic counselling, the parents had decided to terminate the pregnancy. Fetal kidneys were subjected to histological examination. Target capture and next generation sequencing (NGS) was applied to the abortus to detect potential variants. The results were verified by Sanger sequencing. RESULTS: Histological examination of fetal kidneys revealed cystic changes without cortex, medulla or normal renal structure. NGS has identified a heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS gene, which were respectively inherited from the mother and father. CONCLUSION Through NGS and Sanger sequencing, the fetus was diagnosed with type II nephronophthisis (NPHP2). Above result can provide guidance for further pregnancy and enforce understanding of clinical features and genetic etiologies for NPHP.
Female ; Fetus ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Polycystic Kidney, Autosomal Dominant ; diagnostic imaging ; genetics ; Pregnancy ; Sequence Deletion ; genetics ; Transcription Factors ; genetics ; Ultrasonography