1.Research advances in genetic polymorphisms in Kawasaki disease.
Ming-Xing DONG ; Xi-Xia WANG ; Fu-Yong JIAO ; Wei-Hua ZHANG
Chinese Journal of Contemporary Pediatrics 2023;25(12):1234-1238
Kawasaki disease (KD) is a systemic inflammatory vascular disorder that predominantly affects children and is the leading cause of acquired heart disease in children. Although the etiology of this disease remains unclear, genome-wide association and genome-wide linkage studies have shown that some susceptible genes and chromosomal regions are associated with the development and progression of KD. With the advancement of high-throughput DNA sequencing techniques, more and more genomic information related to KD is being discovered. Understanding the genes involved in the pathogenesis of KD may provide novel insights into the diagnosis and treatment of KD. By analyzing related articles and summarizing related research advances, this article mainly discusses the T cell activation-enhancing genes that have been confirmed to be closely associated with the development and progression of KD and reveals their association with the pathogenesis of KD and coronary artery lesions.
Child
;
Humans
;
Mucocutaneous Lymph Node Syndrome/complications*
;
Genome-Wide Association Study
;
Genetic Predisposition to Disease
;
Polymorphism, Genetic
;
Coronary Vessels/pathology*
;
Polymorphism, Single Nucleotide
2.Clinicopathological and molecular features of metaplastic thymoma.
X WANG ; R S ZHANG ; R LI ; S B YE ; Q LI ; H CHEN ; Q Y XIA ; N WU ; Q RAO
Chinese Journal of Pathology 2023;52(12):1237-1243
Objective: To investigate the clinicopathological features, and molecular genetic alterations of metaplastic thymoma (MT). Methods: A total of ten MT cases, diagnosed from 2011 to 2021, were selected from the Department of Pathology of Jinling Hospital, Nanjing University Medical School, Nanjing, China for clinicopathological and immunohistochemical (IHC) examination and clinical follow-up. Fluorescence in situ hybridization (FISH), next-generation sequencing (NGS), and YAP1 C-terminus (YAP1-CT) IHC were performed to detect YAP1::MAML2 fusions. Results: There were four males and six females, ranging in age from 29 to 60 years (mean 50 years, median 54 years). Microscopically, all tumors showed a typical biphasic morphology consisting of epithelial components and gradually or abruptly transitioning spindle cell components. The two components were present in varying proportions in different cases. Immunophenotypically, the epithelial cells were diffusely positive for CKpan, CK5/6 and p63. The spindle cells were diffusely positive for vimentin and focally positive for EMA. TdT was negative in the background lymphocytes. Ki-67 proliferation index was less than 5%. YAP1 and MAML2 break-apart FISH analyses showed that all ten cases had narrow split signals with a distance of nearly 2 signal diameters and may be considered false-negative. Using YAP1::MAML2 fusion FISH assays, abnormal fusion signals were observed in all the ten cases. NGS demonstrated YAP1::MAML2 fusions in all eight cases with adequate nucleic acids; in two cases the fusions were detected by DNA sequencing and in eight cases by RNA sequencing. All ten cases of MT demonstrated loss of YAP1 C-terminal expression in epithelioid cells. Conclusions: MT is a rare and low-grade thymic tumor characterized by a biphasic pattern and YAP1::MAML2 fusions. Break-apart FISH assays may sometimes show false-negative results due to the proximity of YAP1 and MAML2, while YAP1 C-terminal IHC is a highly sensitive and specific marker for MT. Loss of YAP1 C-terminal expression can also be used to screen YAP1::MAML2 fusions for possible MT cases.
Male
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Female
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Humans
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Adult
;
Middle Aged
;
Thymoma/genetics*
;
In Situ Hybridization, Fluorescence
;
Transcription Factors/genetics*
;
Mutation
;
Thymus Neoplasms/genetics*
3.C2 pedicle screw insertion assisted by mobilization of the vertebral artery in cases with high-riding vertebral artery.
J LIU ; M H ZENG ; L JIA ; S Y LING ; Y JI ; X P WEI ; C Y XIA ; C S NIU
Chinese Journal of Surgery 2023;61(8):693-699
Objective: To examine the feasibility, safety, and efficacy of mobilization of the vertebral artery for C2 pedicle screws in cases with high-riding vertebral artery (HRVA). Methods: The clinical data of 12 patients with basilar invagination and atlantoaxial dislocation underwent atlantoaxial reduction and fixation in the Department of Neurosurgery, the First Affiliated Hospital of University of Science and Technology of China between January 2020 and November 2021 were retrospectively analyzed. All patients had high-riding vertebral artery on at least one side that prohibited the insertion of C2 pedicle screws. There were 2 males and 10 females aged (48.0±12.8) years (range: 17 to 67 years). After correction of vertical dislocation during the operation, the C2 pedicle screw insertion and occipitocervical fixation and fusion were performed using the vertebral artery mobilization technique. Neurological function was assessed using the Japanese Orthopedic Association (JOA) scale. The preoperative and postoperative JOA score and the main radiological measurements, including the anterior atlantodental interval (ADI), the distance of the odontoid tip above the Chamberlain line, the clivus-canal angle, were collected and compared by paired t-test. Results: Mobilization of the high-riding vertebral artery was successfully completed, and C2 pedicle screws were then fulfilled after the vertebral artery was protected. There was no injury to the vertebral artery during the operation. Meanwhile, no severe surgical complications such as cerebral infarction or aggravated neurological dysfunction occurred during the perioperative period. Satisfactory C2 pedicle screw placement and reduction were achieved in all 12 patients. All patients achieved bone fusion 6 months after surgery. No looseness and shift in internal fixation or reduction loss was observed during the follow-up period. Compared to the preoperative, the postoperative ADI decreased from (6.1±1.9) mm to (2.0±1.2) mm (t=6.73, P<0.01), the distance of the odontoid tip above the Chamberlain line decreased from (10.4±2.5) mm to (5.5±2.3) mm (t=7.12, P<0.01), the clivus-canal angle increased from (123.4±11.1) ° to (134.7±9.6) ° (t=2.50, P=0.032), the JOA score increased from 13.3±2.1 to 15.6±1.2 (t=6.99, P<0.01). Conclusion: The C2 pedicle screw insertion assisted by mobilization of the vertebral artery is safe and considerably effective, providing a choice for internal fixation in cases with high-riding vertebral arteries.
4.Discovery and distribution of and response to arbovirus in China over the past seven decades.
Chinese Journal of Schistosomiasis Control 2023;35(5):427-436
Arbovirus is a group of virus transmitted by blood-sucking arthropod bites, which infects both arthropods and vertebrates. More than 600 arboviruses have been characterized worldwide until now, including 65 highly pathogenic viruses, which pose a high threat to public health. The risk of arbovirus transmission is increasing due to climate change, international trade and urbanization. The review summarizes the discovery and distribution of emerging and reemerging arboviruses and novel arboviruses with potential pathogenic risks, and proposes responses to the arbovirus transmission risk, so as to provide insights into the research and management of arboviruses and arthropod-borne infectious diseases in China.
Animals
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Humans
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Arboviruses/physiology*
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Commerce
;
Internationality
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Arbovirus Infections/prevention & control*
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Vertebrates
5.Rapid Health Technology Assessment of Albumin-bound Paclitaxel in the Treatment of Breast Cancer
Jiemei JIANG ; Yalu WANG ; Chunlan YANG ; Lijuan FENG ; Ruonan CHEN ; Xi CAO ; Peng MEN ; Yiheng YANG ; Suodi ZHAI ; Quan XIA
China Pharmacy 2021;32(13):1611-1616
OBJECTIVE:To evaluate th e effectiveness ,safety and economy of albu min-bound paclitaxel (nab-PTX)in the treatment of breast cancer by using rapid health technology assessment (HTA),and to provide evidence-based reference for drug selection. METHODS :Retrieved from PubMed ,the Cochrane Library ,CNKI,Wangfang database and other databases ,systematic evaluation/Meta-analysis,HTA and pharmacoeconomic studies about nab-PTX in the treatment of breast cancer were included ;the conclusions were classified and analyzed by using descriptive analysis. RESULTS :A total of 5 systematic reviews/Meta-analysis , 8 pharmacoeconomic studies were included in this study. Compared with conventional taxanes ,nab-PTX increased pathological complete response (pCR)rate [OR =1.39,95%CI(1.16,1.67),P<0.001] and event-free survival (EFS)[HR=0.69,95%CI(0.57, 0.85),P<0.001] in neoadjuvant chemotherapy (NAC)-treated breast cancer patients. However ,there were no significant differences in overall survival (OS),progression-free survival (PFS),objective response rate (ORR)and disease control rate (DCR)in metastatic breast cancer (MBC)patients between 2 groups. In the terms of safety ,nab-PTX increased the incidence of grade 3-4 sensory neuropathy [OR =1.89,95%CI(1.36,2.61),P<0.001] in MBC patients ,and increased the incidence of neutropenia [OR = 1.52,95%CI(1.23,1.88,P<0.001],sensory neuropathy [OR = 2.17,95%CI(1.38,3.40),P<0.001],rash [OR =1.46,95%CI mei1213@163.com (1.18,1.80),P<0.001] and fatigue [OR =1.28,95%CI(1.04, 1.56), P=0.02] in NAC -treated breast cancer patients.Pharmacoeconomic studies showed that nab-PTX could improve the quality adjusted lif e years of MBC patients compared with traditional taxanes ,and it was a economical option. CONCLUSIONS:Nab-PTX enhances pCR in NAC-treated breast cancer patients ,but has no significant advantage in the effectiveness of MBC patients ,and increases the occurrence of ADR. Nab-PTX may have a cost-utility advantage over conventional taxanes for MBC.
6.Purification of Plasmodium and Babesia- infected erythrocytes using a non-woven fabric filter
Tao, Z.Y. ; Liu, W.P. ; Dong, J. ; Feng, X.X. ; Yao, D.W. ; Lv, Q.L. ; Ibrahim, U. ; Dong, J.J. ; Culleton, R. ; Gu, W. ; Su, P.P. ; Tao, L. ; Li, J.Y. ; Fang, Q. ; Xia, H.
Tropical Biomedicine 2020;37(No.4):911-918
The purification of parasite-infected erythrocytes from whole blood containing
leucocytes is crucial for many downstream genetic and molecular assays in parasitology.
Current methodologies to achieve this are often costly and time consuming. Here, we
demonstrate the successful application of a cheap and simple Non-Woven Fabric (NWF) filter
for the purification of parasitized red blood cells from whole blood. NWF filtration was
applied to the malaria-parasitized blood of three strains of mice, and one strain of rat, and to
Babesia gibsoni parasitized dog blood. Before and after filtration, the white blood cell (WBC)
removal rates and red blood cell (RBC) recovery rates were measured. After NWF filter
treatment of rodent malaria-infected blood, the WBC removal rates and RBC recovery rates
were, for Kunming mice: 99.51%±0.30% and 86.12%±8.37%; for BALB/C mice: 99.61%±0.15%
and 80.74%±7.11%; for C57 mice: 99.71%±0.12% and 84.87%±3.83%; for Sprague-Dawley rats:
99.93%±0.03% and 83.30%±2.96%. Microscopy showed WBCs were efficiently removed from
infected dog blood samples, and there was no obvious morphological change of B. gibsoni
parasites. NWF filters efficiently remove leukocytes from malaria parasite-infected mouse
and rat blood, and are also suitable for filtration of B. gibsoni-infected dog blood.
7.Prevalence of antiretroviral drug resistance in treatment-naive injecting drug users infected with HIV-1 in Guangzhou, 2008-2015.
L Q XU ; Z G HAN ; Y L ZHANG ; H WU ; K GAO ; Q M LI ; H F XU ; Y S CAI ; Y XIA
Chinese Journal of Epidemiology 2019;40(2):196-201
Objective: To understand the prevalence of drug resistance in treatment-naive injecting drug users (IDUs) infected with HIV-1 in Guangzhou. Methods: HIV-1 RNA were extracted from the serum specimens of the newly confirmed HIV-1 positive IDUs living in Guangzhou, being infected through injecting drug use and receiving no antiretroviral therapy at the time of confirmation during 2008-2015. Full sequence of pol protease (PR) gene and partial sequence of reverse transcriptase (RT) gene were amplified by nested reverse transcription polymerase chain reaction (nested-PCR) and sequenced. After that, data were submitted to the HIV resistance database of Stanford University for drug resistance analysis. Results: Among the 518 HIV-1 infected IDUs, HIV-1pol gene segments were successfully obtained from the serum samples of 407 HIV-1 infected IDUs (78.57%) aged 18-64 (37.44±8.14) years. Among them, males accounted for 89.68% (365/407), those of Han ethnic group accounted for 89.93% (366/407), the unmarried accounted for 55.28% (225/407), and those with education level of junior high school or below accounted for 83.78% (341/407). The distribution of subtypes was predominated by CRF07_BC (47.18%, 192/407), followed by CRF01_AE (23.83%, 97/407), CRF08_BC (22.85%, 93/407), and other subtypes (6.14%, 25/407). The overall prevalence of drug resistance was 3.44% (14/407). The prevalence of drug resistance to protease inhibitors, nucleoside reverse transcriptase inhibitors and non-nucleoside reverse transcriptase inhibitors were 1.47%(6/407), 0.25% (1/407) and 1.72% (7/407) respectively. The mutation rate was 12.29% (50/407). No major drug resistance mutation was detected in protease and nucleoside reverse transcriptase regions. Higher rate of V179E mutation in the non-nucleoside reverse transcriptase region was detected in other subtypes and subtype CRF07_BC. Mutation seemed to have occurred in all 8 cases of subtype CRF55_01B in other subtypes. The highest mutation rate of E138A was detected in subtype CRF08_BC (3.23%). Two cases were resistant to all four drugs of NNRTIs. Conclusions: The prevalence of drug resistance in treatment-naive HIV-1 positive IDUs remained at a relatively low level during 2008-2015, in Guangzhou. Most infections were sensitive to existing antiviral drugs. However, drug resistance surveillance in IDUs infected with HIV should be strengthened to prevent the prevalence of multi-drug resistance and cross drug resistance.
Adolescent
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Adult
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Child
;
Drug Resistance, Viral/genetics*
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Drug Users
;
Genes, pol/genetics*
;
Genotype
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HIV Infections/psychology*
;
HIV-1/isolation & purification*
;
Humans
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Male
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Mutation
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Prevalence
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RNA, Viral/genetics*
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Young Adult
8.Mutation studies of the gene encoding YuiC, a stationary phase survival protein in Bacillus subtilis
Doris Quay Huai Xia ; Amna Qureshi ; Sanjib Bhakta ; Nicholas H. Keep
Malaysian Journal of Microbiology 2018;14(6):444-451
Aims:
YuiC is a stationary phase survival (Sps) protein from the Firmicute Bacillus subtilis that possesses muralytic activity to cleave bacterial cell-wall peptidoglycan. It has a small lytic transglycosylase (MltA) fold analogous to the resuscitation promoting factors (Rpfs) of Actinobacteria which have a hybrid of a mini lysozyme and soluble lytic transglycosylase (Slt35/70) fold. The present study aimed at identifying key residues of YuiC/Sps that are catalytically active and studying the effect of B. subtilis cell growth upon sps/yuiC deletion.
Methodology and results:
Four forms of mutated yuiC were created through Site-directed, Ligase-Independent Mutagenesis Polymerase Chain Reaction (SLIM PCR) that include the substitutions of D129A, D151A, D162A and K102A. These individual mutated yuiC genes were cloned and expressed in the Escherichia coli BL21 (DE3) expression system and subsequently purified to homogeneity using affinity, cation exchange and size exclusion chromatography. The D129A variant was shown to be insoluble, indicating its role in maintaining the right protein folding of YuiC. The remaining three variants resulted in soluble proteins but were inactive on zymograms indicating that they may be responsible for catalysis. B. subtilis cells harbouring individual sps genes (yuiC, yabE, yocH and yorM) knocked out showed stationary phase defects and altered colony morphologies compared to the wild type.
Conclusion, significance and impact of study
This study has identified the key residues involved in catalysis of YuiC, which are the D151, D162 and K102. These are conserved in Sps domains. The catalytic mechanism of YuiC is similar to the mechanism reported for Neisseria gonorrhoeae MltA. sps/yuiC knock outs have implied that each sps/yuiC has a significant role on B. subtilis late growth stage. The B. subtilis YuiC/Sps model has given an insight into Sps functions in the final growth stage of the Firmicutes, which members include etiologic agents of anthrax, botulism and listeriosis. Inhibition of Sps protein may inactivate pathogen replication and facilitate entrance into a non-contagious dormant sporulation stage.
9.An overview of the American trauma system.
Jose M SOTO ; Yilu ZHANG ; Jason H HUANG ; Dong-Xia FENG
Chinese Journal of Traumatology 2018;21(2):77-79
The American trauma system is designed to provide an organized response to injury. It draws its foundations from lessons learned from America's involvement in the wars of the 20th century as well as principles developed in urban community hospitals. Although run at the local and state government level, it is guided by national societies and has become a world class example. It also currently faces challenges with declining reimbursement and providing equal access to care for all Americans. Professional societies and legislative bodies are continuing to work together for fair and equitable solutions to these issues.
Humans
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Trauma Centers
;
organization & administration
;
United States
10.Association between maternal body height and risk of preterm birth.
H LI ; L L SONG ; L J SHEN ; B Q LIU ; X X ZHENG ; L N ZHANG ; Y Y LI ; W XIA ; B ZHANG ; A F ZHOU ; Y J WANG ; S Q XU
Chinese Journal of Epidemiology 2018;39(3):313-316
Objective: To investigate the association between maternal body height and risk of preterm birth. Methods: A total of 11 311 pregnant women who gave birth of live singletons were recruited from the Healthy Baby Cohort Study in Hubei province, China from September 2012 to October 2014. Finally 11 070 pregnant women were selected as study subjects. Data were collected by using questionnaires, their prenatal care records and medical records. The women were divided into 4 groups according to the quartiles distribution (<158 cm, 158- cm, 160- cm, and >164 cm). Gestational age was estimated according to maternal last menstrual time. Preterm birth was defined as delivering a live singleton infant at 28-37 weeks' gestational age. Logistic regression was used to calculate the odds ratios (OR) and 95% confidence intervals (CI) for the association between body height and preterm birth. Results: Among the 11 070 pregnant women, the incidence of preterm birth was 5.9%. Logistic regression analysis indicated that women in group with body height <158 cm had 46% (OR=1.46, 95%CI: 1.16-1.83) higher risk of giving preterm birth than those in group with body height >164 cm after adjustment for potential confounders. Every 1- cm increase in body height was associated with 3% lower risk of preterm birth (OR=0.97, 95%CI: 0.95-0.99). Conclusion: Shorter body height was a risk factor for preterm birth. It is necessary to strengthen the monitoring in pregnant women with short body height to reduce the risk of preterm birth.
Body Height
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China/epidemiology*
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Cohort Studies
;
Female
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Gestational Age
;
Humans
;
Incidence
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Infant, Newborn
;
Odds Ratio
;
Pregnancy
;
Premature Birth/epidemiology*
;
Prenatal Care
;
Risk Factors


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