Objective To investigate the distribution and seasonal fluctuations of visceral leishmaniasis vectors sandflies in Lüliang City, Shanxi Province, so as to provide insights into assessment of the visceral leishmaniasis transmission risk and formulation of visceral leishmaniasis control measures. Methods A total of 12 natural villages were sampled from Shilou County, Lishi District, Lanxian County, Linxian County and Wenshui County in Lüliang City, Shanxi Province from June to September, 2023, and sandflies were captured using light traps from 7 breeding habitats, including farmers’ houses, sheep pens, cattle pens, chicken coops, pig pens, mule and horse pens, and loess-cave dwellings. Following morphological identification of the sandfly species, the distribution of sandflies and the seasonal fluctuations of the sandfly density were analyzed. In addition, the Leishmania was detected in sandflies using a real-time fluorescence quantitative PCR assay. Results A total of 2 831 sandflies were captured with 156 light traps in Lüliang City from June to September, 2023, including 2 638 female sandflies (93.18%) and 193 male sandflies (6.82%), and the average density was 16.91 sandflies/(light-night). The seasonal fluctuations of the sandfly density all appeared a unimodal distribution in all survey sites, and the sandfly density peaked in July and then declined rapidly. Among all types of breeding habitats, the greatest sandfly density was found in sheep pens [39.04 sandflies/(light-night)]. In addition, 4.08% (2/49) of the sandfly samples were tested positive for Leishmania nucleic acid as revealed by the real-time fluorescence quantitative PCR assay. Conclusions Sandflies were widely distributed in Lüliang City, Shanxi Province in 2023, and the peak of the sandfly density was observed in July, which had a visceral leishmaniasis transmission risk. Intensified surveillance of visceral leishmaniasis and sandfly vectors is required and targeted vector control is recommended.

Purpose/Significance To deeply analyze the research progress on the application of medical knowledge graph in the field of stroke,to discuss the problems of the development of stroke knowledge graph in China,and to put forward suggestions for the construc-tion of stroke knowledge graph.Method/Process By reviewing and analyzing the relevant literature,the application of medical knowledge graph in the field of stroke is sorted out and summarized.Result/Conclusion There are still many deficiencies in the development of stroke knowledge graph in China,and in the future,in-depth research can be carried out from four aspects,namely,expanding the ap-plication scope of knowledge graph,promoting the fusion of knowledge graph,developing more efficient algorithms,and upgrading to cog-nitive graph by joint artificial intelligence(AI).

OBJECTIVE: To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. METHODS: A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. RESULTS: Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal. CONCLUSION The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.
Humans ; Fetus/abnormalities* ; Chromosomes, Human, Pair 8 ; Female ; Pregnancy ; Karyotyping

OBJECTIVE: To explore the genetic basis, clinical phenotype and pathogenesis for a child with mosaicism ring chromosome 4. METHODS: Clinical data of the child was collected. Peripheral blood chromosomal karyotype G banding analysis, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) were carried out for the child, in addition with a review of the literature. RESULTS: The child was born full-term with low birth weight, facial dysmorphism, patent ductus arteriosus and ventricular septal defect. His karyotype was determined as mos46,XY,r(4)(p16.3q35.2)[259]/45,XY,-4[25]/47,XY,r(4)(p16.3q35.2), +r(4)(p16.3q35.2)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;4)(p16.3q35.2;p16.3q35.2)[4]/48,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)×2[3]/46,XY,r(4)(p1?q2?)[2]; CMA result was arr[GRCH37]4p16.3(68 345-2 981 614)×1; FISH result was 45,XY,-4[12]/45,XY,-4×2,+mar1.ish r1(4)(WHS-,D4Z1+)[1]/ 46,XY,-4,+mar1.ishr1(4)(WHS-,D4Z1+)[73]/46,XY,-4,+mar2.ishr2(4)(WHS-,D4Z1++)[1]/47,XY,-4,+mar1×2.ishr1(4) (WHS-, D4Z1+)×2[4]/46,XY,del(4)(p16.3).ish del(4)(p16.3)(WHS-,D4Z1+)[9]. CONCLUSION In this case, the ring chromosome 4 as a de novo variant has produced a number of cell lines during embryonic development and given rise to mosaicism. The clinical phenotype of ring chromosome 4 is variable. The instability of the ring chromosome itself, presence of mosaicism, chromosome breakpoint and range of deletion and/or duplication may all affect the ultimate phenotype.
Humans ; Pregnancy ; Female ; Ring Chromosomes ; In Situ Hybridization, Fluorescence ; Karyotyping ; Karyotype ; Mosaicism

OBJECTIVE：To compare the chemical components in Sinapis alba before and after stir-frying. METHODS ： UPLC-Q-Exactive Obitrap MS was adopted to analyze chemical constituents of S. alba before and after stir-frying. The determination was performed on Waters CORTECS T 3 column with mobile phase consisted of methanol- 0.1％ formic acid solution （gradient elution ）at the flow rate of 0.25 mL/min. The column temperature was 30 ℃ and the sample size was 2 μL. High resolution MS adopted heating electrospray electron source ，positive ion scanning mode ，scanning range m/z 120-1 000. The chemical constituents of S. alba before and after stir-frying were identified by Compound Discover 3.2 software combined with relevant database ，and the content changes of chemical constituents were analyzed by using peak area. Chemometrics analysis was performed for the content changes of chemical constituents using peak area as variable. RESULTS ：A total of 54 chemical components were identified in S. alba ，mainly fatty acids （represented by erucic acid ），alkaloids（represented by sinapine ）， flavonoids. After stir-frying ，the contents of 19 chemical components changed significantly ，of which the contents of 10 components decreased significantly and those of 9 components increased significantly （P＜0.05）. Principal component analysis and orthogonal partial least squares discriminant analysis could clearly distinguish S. alba from stir-fried S. alba . CONCLUSIONS ：The contents of some chemical components of S. alba change significantly after stir-frying ，which may be one of the important reasons for the change of efficacy after stir-frying.

【Objective】 To analyze the HIV-, HCV- and HBV- NAT yield rate in different areas of Henan province, so as to provide the basis for disease prevention and control as well as the establishment of a unified quality control standard for nucleic acid testing(NAT) in the Henan province. 【Methods】 The number and prevalence of NAT yielding samples with isolated infectious virus, namely HIV, HCV and HBV, in 18 blood stations in Henan province from 2017~2019, as well as the trends were analyzed. The NAT quality of each laboratory and each testing system was analyzed according to the ratio of reactive individual donation(ID) results to reactive minipools(MP). 【Results】 The HBV, HCV and HIV ID-NAT yield numbers in 3 501 251 blood donations were HBV 2 606(74/100 000), HCV 21 (0.63/100 000), and HIV 34(1.00/100 000). The HBV ID-NAT yield rate showed an upward trend in the whole province from 2017 to 2019, while the prevalence of HIV and HCV ID-NAT yield didn′t differ significantly during three years. 5 kinds of NAT detection systems were applied in 18 blood centers. among which Ⅰ, Ⅱ, Ⅳ and Ⅴ were triplex detection systems. 2661 ID-reactive samples were implicated in 5 595 MP-reactive samples, with a resolution rate of 47.56%. The resolution rate of triplex NAT system Ⅰ, Ⅱ, Ⅳ and Ⅳ was 39.63%~47.95%, 40.43%~54.36%, 51.61% and 70.00%~45.45%, respectively. An upward trend in triplex NAT resolution rate was observed in 8 laboratories, i. e.B, D, E, F, I, K, L and Q, and an descending trend in A and C. The NAT system Ⅲ, a ID-NAT system, was used only by laboratory C, presenting a NAT-yield rate of 0.19% (282/145 474) and resolution rate of 46.45% (131/282). 【Conclusion】 The majority of NAT-yield of one infectious virus in Henan province is HBV, presenting annual increasing trend. The quality management of NAT laboratories should be strengthened as the divergence was seen in the performance of different NAT laboratories.

OBJECTIVETo assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing.

METHODSOne hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis.

RESULTSOne hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies. Amniocytic karyotyping and CMA analysis has confirmed 81 cases of trisomy 21, 15 cases of trisomy 18, 10 cases of 47,XXY, 4 cases of 47,XXX, 2 cases of 47,XYY and 1 case of 46,X,del(X)(q26.1). Two trisomy 21, two trisomy 18, 2 trisomy 13, and 23 cases of sex chromosomal aneuploidies were verified as false positives. For 9 women with pathological fetal CNVs detected by NIPS, combined fetal karyotyping and CMA has confirmed 1 case of chromosome 13 microdeletion, 1 case of chromosome 18 microduplication, and 1 case of chromosome 18 deletion. For a case with 30 Mb duplication of chromosome 2 and 25 Mb duplication of chromosome 8, CMA analysis had no positive finding, while fetal umbilical cord blood karyotyping has yielded a 46,XX,dup(2)(p23.1p25.3)[13]/46,XX[87] karyotype. The remaining 5 cases were confirmed as false positive results.

CONCLUSIONCombined fetal karyotyping and CMA has provided a powerful tool for verifying high-risk fetuses signaled by NIPS.

Aneuploidy ; DNA Copy Number Variations ; Down Syndrome ; Female ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome

Pingyangmycin (bleomycin A5 hydrochloride, PYM) is one of the anti-neoplastic agents which have been commonly used to treat venous malformations. However, the underlying mechanism by which PYM treats venous malformations remains poorly understood. It was reported that venous endothelial cells could recruit neutrophils via adhesion molecules (E-selectin, ICAM-1, ICAM-3, VCAM-1) during the acute/chronic inflammation and subsequent histological fibrosis after sclerotherapy with PYM. This study explored if the expression of E-selectin, ICAM-1, ICAM-3 and VCAM-1 in human venous malformation endothelial cells could be affected by PYM. HVMECs were cultured from human venous malformation tissue. Expressions of E-selectin, ICAM-1, ICAM-3 and VCAM-1 on HVMECs in response to PYM were analyzed by cell ELISA. The relative levels of mRNA expression in the cells were semi-quantified. The results showed that PYM up-regulated the expressions of E-selectin, ICAM-3, VCAM-1 and ICAM-1 in both time- and concentration-dependent manner. Our findings suggested that PYM could induce the expression of adhesion molecules in HVMECs, which might be a possible mechanism by which sclerotherapy by intralesional injection of PYM treats venous malformations.
Bleomycin ; analogs & derivatives ; pharmacology ; Cell Adhesion Molecules ; genetics ; metabolism ; Cells, Cultured ; Endothelial Cells ; drug effects ; metabolism ; Endothelium, Vascular ; drug effects ; metabolism ; Gene Expression ; drug effects ; genetics ; Humans

Pingyangmycin (bleomycin A5 hydrochloride, PYM) is one of the anti-neoplastic agents which have been commonly used to treat venous malformations. However, the underlying mechanism by which PYM treats venous malformations remains poorly understood. It was reported that venous endothelial cells could recruit neutrophils via adhesion molecules (E-selectin, ICAM-1, ICAM-3, VCAM-1) during the acute/chronic inflammation and subsequent histological fibrosis after sclerotherapy with PYM. This study explored if the expression of E-selectin, ICAM-1, ICAM-3 and VCAM-1 in human venous malformation endothelial cells could be affected by PYM. HVMECs were cultured from human venous malformation tissue. Expressions of E-selectin, ICAM-1, ICAM-3 and VCAM-1 on HVMECs in response to PYM were analyzed by cell ELISA. The relative levels of mRNA expression in the cells were semi-quantified. The results showed that PYM up-regulated the expressions of E-selectin, ICAM-3, VCAM-1 and ICAM-1 in both time- and concentration-dependent manner. Our findings suggested that PYM could induce the expression of adhesion molecules in HVMECs, which might be a possible mechanism by which sclerotherapy by intralesional injection of PYM treats venous malformations.

The purpose of this paper was to evaluate the relationship between the thrombosis and secretory duct dilation,lesion size,clinical types,nature (primary or recurrent) and duration of illness in the development of ranula.A total of 229 cases of sublingual gland cysts were treated with surgical resection from Jan.1990 to Feb.2010.The patients' data were investigated on histopathological findings,size of ranula,the clinical types,nature of ranula (primary or recurrent) and duration of illness.Sections from the paraffin-embeded blocks were HE-stained.CK expression was immunohistochemically detected.Among 229 cases the incidence of venous thrombosis was 58.52％.The incidence of venous thrombosis with or without duct dilation was 73.25％ and 26.39％ respectively,with a significant difference between the two groups (P＜0.005).The incidence of venous thrombosis of ranulas with diameter larger or less than 3 cm was 72.22％ and 46.28％ (P＜0.005).The incidence of venous thrombosis of oral ranula,plunging ranula and mixed ranula was 49.37％,77.19％ and 85.71％ respectively,with a significant difference found between oral and plunging or mixed ranula (P＜0.01).The incidence of venous thrombosis in ranula patients with duration of illness longer or less than 3 months was 69.77％ and 51.75％ (P＜0.01).The incidence of venous thrombosis with recurrent and primary ranulas was 51.85％ and 64.85％,without a significant difference noted between them (P＞0.05).It is concluded that the formation of venous thrombosis was related to the dilation of secretory duct,lesion size,clinical types,duration of lesion but formation of venous thrombosis was not related to the nature (primary or recurrent) of ranulas.