1.Research advances in the diagnosis and treatment of Polycystic kidney disease.
Jiafa WU ; Yuru JING ; Xiaoyuan NING
Chinese Journal of Medical Genetics 2026;43(3):234-240
Polycystic kidney disease (PKD) is a group of inherited disorders characterized by cystic lesions in the kidneys and multiple organs, primarily including autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is mainly caused by variations in the PKD1 and PKD2 genes. Its clinical manifestations include progressive renal cyst growth, hypertension, and multi-system complications. ARPKD, on the other hand, is primarily caused by mutations in the PKHD1 gene. It commonly occurs in infants and young children, with hepatorenal cystic fibrosis being a key feature. Although there is currently no cure for PKD, the integration of multi-omics and precision medicine strategies holds promise for optimizing patient management and improving outcomes in the future. This review summarizes the genetic basis, pathogenic mechanisms, diagnostic techniques, and therapeutic advances in PKD, providing a reference for clinical practice and research.
Humans
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Polycystic Kidney Diseases/genetics*
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TRPP Cation Channels/genetics*
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Mutation
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Polycystic Kidney, Autosomal Dominant/therapy*
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Receptors, Cell Surface
2.Changes of laboratory biochemical indicators in HIV / AIDS patients treated with different antiviral regimens
Mengxue LI ; Jiafa LIU ; Rui ZHANG ; Zhixing WU ; Jianjian LI ; Xuemei DENG ; Kailin YANG ; Xingqi DONG ; Mi ZHANG
Journal of Public Health and Preventive Medicine 2024;35(4):49-52
Objective To analyze the changes of liver and kidney function, blood glucose and lipid metabolism at different follow-up time points of different treatment regimens, and to provide reference for clinical optimization and adjustment of medication in HIV/AIDS patients. Methods The changes of liver and kidney function, blood glucose and lipid metabolism at seven follow-up time points were analyzed retrospectively. The baseline blood collection time of HIV /AIDS patients was set as the starting point, and the final follow-up time was set as the end point. The seven follow-up points were 0, 3, 6, 9, 12, 18 and 24 months respectively. Results There were statistically significant differences in the distribution of sex, age, education, marital status, WHO staging, infection route, and baseline CD4+T lymphocyte count among 605 enrolled patients based on different treatment regimens. Liver function: The level of T-Bil in group E was higher than that of baseline at 9M, 12M, 18M and 24M after treatment (P<0.01); In group F, the level of T-Bil was higher than that of baseline at 9M after treatment (P=0.001); The levels of ALT in group C at the six follow-up points after treatment were higher than the baseline (P<0.001); The level of AST in group C was higher than that of baseline after 3M and 6M treatment (P<0.05). Renal function: The level of UREA in group C was higher than that in baseline after 6M treatment (P=0.007); The level of UREA in group F was higher than that in the baseline after 12M treatment (P<0.001); The level of UA in group F was higher than that of baseline after 3M, 6M and 12M treatment (P<0.05). Blood lipid and blood glucose: The levels of Glu at some follow-up points after ART treatment in group A and group C were higher than that at baseline (P<0.05); The levels of TG at some follow-up points in group A, group E and group F after ART treatment were higher than those at baseline (P<0.05); The levels of TC at some follow-up points in group A, group B, group C, group E and group F after ART treatment were all higher than the baseline (P<0.05). Conclusion Regular monitoring of changes in laboratory indicators of different treatment regimens during ART is of great importance to the prognosis of patients. Different laboratory indicators should be monitored according to different treatment regimens to effectively prevent adverse reactions caused by different treatment regimens.
3.Drug resistance and molecular network analysis of antiretroviral therapy failure in HIVAIDS patients aged 50 years and above in Zhaotong City, Yunnan Province
WU Zhixing ; LIU Jiafa ; ZHANG Mi
China Tropical Medicine 2024;24(5):542-
Abstract: Objective To understand the characteristics of drug resistance and molecular transmission network of HIV/AIDS patients aged 50 years and above in Zhaotong City, Yunnan Province, from 2020 to 2022, who have failed antiretroviral therapy (plasma viral load≥1 000 copies/mL). Methods The demographic data of HIV/AIDS patients aged 50 years and above with failed antiviral therapy in Zhaotong City from 2020 to 2022 were collected through the antiviral therapy database of Yunnan Province. The plasma of the patients was collected, and the HIV pol gene protease and reverse transcriptase regions were amplified by reverse transcriptase chain reaction, the fragments were spliced using ContigExpress, the sequences were determined, and drug resistance mutations were analyzed using the HIVdb database of Stanford University. Pairwise genetic distances between sequences were calculated using the HyPhy 2.2.4 software with the TN93 model, and a threshold of 1.7% was used to construct the HIV molecular network. Cytoscape 3.7.0 was used to visualize the network. Results A total of 480 HIV/AIDS cases were included, with 417 positive amplifications of plasma samples. Among these, 196 cases were drug-resistant, resulting in a total drug resistance rate of 47.0%. The highest resistance rate was observed in NNRTIs at 45.6% (190/417), followed by NRTIs at 14.4% (60/417), and PIs at a lower rate of 0.2% (1/417). In NNRTIs resistance mutation sites, K103N/E/S mutation sites were dominant, with a mutation rate of 33.3% (139/417). Among the NRTIs resistance mutation sites, M184V/I mutation site was the main one, with a mutation rate of 13.9% (58/417). The mutation rate of PIs resistance sites was relatively lower, at 0.2% (1/417). Through the construction of the molecular transmission network, 88 patients entered the molecular transmission network, with an access rate of 21.1%, forming 21 transmission clusters, among which CRF01_AE formed a large cluster including 37 individuals. Conclusions Compared with studies in other regions of Yunnan Province, the drug resistance rate among the elderly population with antiretroviral therapy failure in this study in Zhaotong City has decreased, and URFs have become the main subtype, suggesting that the transmission relationships among the elderly in Zhaotong City are gradually complicated. Through the construction of a molecular network, it is suggested that CRF01_AE and married or partnered males have the highest network access rate. Interventions should be strengthened among key populations, and diversified efforts in HIV/AIDS prevention and treatment for the elderly should be developed.
4.Acute kidney injury in patients hospitalized with COVID-19 in Wuhan, China: a single-center retrospective observational study.
Guanhua XIAO ; Hongbin HU ; Feng WU ; Tong SHA ; Zhenhua ZENG ; Qiaobing HUANG ; Haijun LI ; Jiafa HAN ; Wenhong SONG ; Zhongqing CHEN ; Shumin CAI
Journal of Southern Medical University 2021;41(2):157-163
OBJECTIVE:
To assess the predictors and outcomes of acute kidney injury (AKI) among patients with coronavirus disease 2019 (COVID-19).
OBJECTIVE:
This retrospective observational study was conducted among patients with a confirmed diagnosis of COVID-19 admitted to Hankou Hospital between January, 5 and March 8, 2020. We evaluated the association of AKI with the demographic and biochemical parameters and clinical outcomes of the patients using univariate regression analysis.
OBJECTIVE:
Atotal of 287 COVID-19 patients, including 55 with AKI and 232 without AKI, were included in the analysis. Compared with the patients without AKI, the patients with AKI were older, predominantly male, and were more likely to have hypoxia and pre-existing hypertension and cerebrovascular diseases. The patients with AKI also had higher levels of white blood cells, D-dimer, aspartate aminotransferase, total bilirubin, creatine kinase, lactate dehydrogenase, procalcitonin, C-reactive protein, a higher prevalence of hyperkalemia, lower lymphocyte counts, and higher chest computed tomographic scores. The incidence of stage 1 AKI was 14.3% and that of stage 2 or 3 AKI was 4.9%. The patients with AKI had much higher mortality rate than those without AKI.
OBJECTIVE
AKI is an important complication of COVID-19. An older age, a male gender, multiple pre- existing comorbidities, lymphopenia, increased infection indicators, elevated D-dimer, and impaired heart and liver functions are all potential risk factors ofAKI. COVID- 19 patients with AKI that progresses into stages 2 or 3 AKI have a high mortality rate. Prevention of AKI and monitoring kidney function is critical in the care of COVID-19 patients.
Acute Kidney Injury/epidemiology*
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Aged
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COVID-19
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China/epidemiology*
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Humans
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Male
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Retrospective Studies
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SARS-CoV-2
5.Thoughts on the strategy and mechanism for the regular prevention and control of COVID-19
Yinbo LUO ; Yang WU ; Man LIU ; QI CHEN ; Jiafa LIU ; Xuhua GUAN ; Yeqing TONG
Journal of Public Health and Preventive Medicine 2020;31(6):1-5
Since the outbreak of the COVID-19 at the end of December 2019, Hubei province has actively adopted a series of prevention and control measures such as “quarantine, treatment, testing, and containment”, and have basically blocked the spread of COVID-19. However, with the development of overseas epidemics and the occurrence of case clusters in local areas, we not only face the threat of imported cases, but also face the urgent need to resume normal work and daily life. This puts forward higher requirements for regular prevention and control of COVID-19. Therefore, we should more deeply understand the significance of regular prevention and control as well as the epidemic situation in our province, summarize experience and lessons, and adhere to the prevention and control strategy of “government-led, group-specialist combination, and specialized-oriented”. Meanwhile, it is necessary to implement the working requirement that combines regular prevention and control surveillance with rapid emergency response to local COVID-19 outbreaks. Furthermore, we should establish a regular multi-point trigger early warning mechanism for COVID-19, strengthen the reserve of emergency supplies and carry out training and drills on epidemic prevention and control across the province to make full preparations for the coming autumn and winter epidemics. The most important is to reform the system of disease prevention and control and public health, comprehensively improve the ability of prevention and treatment, and promote the modernization of public health governance.
6.Strategy research and analysis on 10 590 cases of invalid ambulance attendance in prehospital emergency care in Nanshan District of Shenzhen from 2014 to 2018
Jiafa LU ; Min SHU ; Jinglan WU ; Xiaofei LUO ; Yougong HE ; Jiqing SHEN ; Wei HAN ; Ming HAN ; Xuedong SUN
Chinese Critical Care Medicine 2020;32(8):1003-1007
Objective:To provide a scientific basis for reducing the rate of invalid ambulance attendance and the establishment of grades dispatch system through a retrospective analysis of the invalid ambulance attendance in prehospital emergency care.Methods:The data of the invalid ambulance attendance was collected in Huazhong University of Science and Technology Union Shenzhen Hospital (the only tertiary hospital of in Nanshan District) from 2014 to 2018, and the reasons of the invalid ambulance attendance, the time period during the invalid ambulance attendance occurred (every 3 hours was divided into one time period), and the reasons of ambulance calling were statistically analyzed.Results:① The invalid ambulance attendance rates showed a fluctuating decrease trend year by year from 2014 to 2018, the rates were 31.22% (2 515/8 055), 26.94% (2 147/7 970), 29.80% (2 398/8 046), 25.69% (1 844/7 177) and 21.89% (1 686/7 703), respectively. The total invalid ambulance attendance rate was 27.19% (10 590/38 951) in the five years. ② The top three reasons for the invalid ambulance attendance were cancelled calls, departure before the ambulance arrived, and going to hospital by themselves, accounting for 36.87%, 25.08%, and 17.03%, respectively. The constituent ratios of the causes of invalid ambulance attendance in each year were different with statistical significance (χ 2 = 217.626, P < 0.001). ③ The top three time period of invalid ambulance attendance occurred at 21:00-23:59, 18:00-20:59 and 09:00-11:59, accounting for 16.86%, 14.95% and 13.54%, respectively. There was no statistical significance in the distribution of time period in each year (χ 2 = 32.571, P = 0.252). ④ The top five reasons for ambulance calling of invalid ambulance attendance were fainting/syncope, trauma, alcoholism, traffic accident injuries, and brawls, accounting for 20.13%, 15.67%, 9.97%, 8.64%, and 6.45%, respectively, and there was statistically significant difference in the distribution of the reason for ambulance calls in each year (χ 2 = 194.213, P < 0.001). Conclusion:The invalid ambulance attendance rate is high in Nanshan District of Shenzhen. Improving the professional level and triage ability of the dispatchers, improving the system construction of prehospital emergency care system and increasing social education are conducive to reduce invalid ambulance attendance rate.
7.MicroRNAs Are Involved in Maize Immunity Against Fusarium verticillioides Ear Rot
Zhou ZIJIAN ; Cao YAN ; Li TAO ; Wang XINGHAO ; Chen JIAFA ; He HANG ; Yao WEN ; Wu JIANYU ; Zhang HUIYONG
Genomics, Proteomics & Bioinformatics 2020;18(3):241-255
Fusarium ear rot (FER) caused by Fusarium verticillioides is one of the most common dis-eases affecting maize production worldwide. FER results in severe yield losses and grain contami-nation with health-threatening mycotoxins. Although most studies to date have focused on comprehensive analysis of gene regulation in maize during defense responses against F. verticil-lioides infection, less is known about the role of microRNAs (miRNAs) in this process. We used deep sequencing to compare small RNA libraries from the maize kernels of susceptible (N6) or resistant (BT-1) inbred lines from uninfected plants and upon F. verticillioides infection. We found that pathogen exposure was accompanied by dynamic alterations in expression levels of multiple miRNAs, including new members of previously annotated miRNA families. A combination of tran-scriptomic, degradomic, and bioinformatics analyses revealed that F. verticillioides-responsive miRNAs and their potential target genes displayed opposite expression patterns in the susceptible and resistant genotypes. Functional category analysis uncovered preferential enrichment of the pathogen-responsive miRNAs and their targets in the phenylpropanoid metabolic processes, plant-pathogen interactions, and plant phytohormone signal transduction pathways. Furthermore, transgenic maize plants overexpressing miR408b exhibited reduced resistance to F. verticillioides infection in a susceptible maize line. These findings provide new insights into the regulatory roles of miRNAs in maize immunity against FER and new resources for breeding disease resistance into maize.


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