1."A case of lymphocutaneous sporotrichosis caused by Sporothrix schenckii sensu stricto finally diagnosed by molecular identification based on ""ITS"" and ""CAL"" coding regions in combination with phenotypic analysis"
Bilin DONG ; Yao CHEN ; Zhong LIU ; Huifang ZHANG ; Zhongsheng TONG ; Liuqing CHEN ; Dongsheng LI
Chinese Journal of Dermatology 2017;50(3):204-207
A 54-year-old female farmer presented with a pea-sized red nodule on the left upper limb near the wrist for 15 days,which occurred after trauma,gradually became swollen and ruptured,and developed into multiple nodules arranged in a chain in 30 days.Skin examination revealed multiple hard purple-red nodules arranged in a line on her left upper limb,some of which were ruptured with a small amount of purulent exndate.Histopathological examination further revealed that the focus of infection manifested as pyogenic granuloma-like inflammation mainly infiltrated with mixed inflammatory cells.Periodic acid Schiff (PAS) staining showed no fungal structures,including fungal spores,hyphae and asteroid body.The biopsy tissue culture yielded the fungus.According to the morphological analysis of the cultures and results of molecular identification based on internal transcribed spacer (ITS) and calmodulin (CAL) coding regions,this case was finally diagnosed as lymphocutaneous sporotrichosis caused by Sporothrix schenckii sensu stricto.The patient was treated with oral potassium iodide 10% solution in a dose of 10 ml thrice a day.After 2-month treatment,the patient felt that the lesions were obviously improved,but afterwards she was lost to follow-up.This research report suggests that phenotypic analysis combined with ITS/CAL-based molecular identification can accurately identify Sporothrix schenckii complex at the species level.
2.Application of BIOMED-2 primers in the detection of T cell receptor γ gene rearrangements in patients with mycosis fungoides
Liuqing CHEN ; Jinbo CHEN ; Yiqun DUAN ; Dongsheng LI ; Bilin DONG ; Hongmei ZHANG ; Xin YU
Chinese Journal of Dermatology 2013;46(6):404-407
Objective To estimate the value of BIOMED-2 primers for the detection of T cell receptor γ (TCR-γ) gene rearrangements in different types of specimens from patients with mycosis fungoides (MF).Methods Totally,15 paraffin-embedded tissue specimens,14 fresh tissue specimens and 18 whole blood specimens were obtained from 28 patients with MF,and subjected to DNA extraction.BIOMED-2 multiplex PCR tubes TCRγ (A+B) were used for the analysis of TCRγgene rearrangements.Data were processed by SPSS 13.0 software,and statistical analysis was done by chi-square test and Fisher's exact probability test.Results TCR-γ gene rearrangements were detected in 3 paraffin-embedded tissue specimens,11 fresh tissue specimens and 12 blood specimens,with significant differences in the detection rate between the three samples (x2 =13.047,P < 0.01).The fresh tissue samples showed a significantly higher detection rate than the paraffin-embedded tissue samples (X2 =12.523,P < 0.01).The detection rate of TCRγgene rearrangements was 3/6 in paraffin-embedded tissue samples collected in 2011,significantly higher than that in the other 9 paraffin-embedded tissue samples collected before 2011 (Fisher's exact probability test,P =0.044),but similar to that in 14 fresh tissue specimens (12/14,Fisher's exact probability test,P =0.044).Decreased detection rate of TCRγ gene rearrangements was observed in blood samples compared with fresh tissue specimens,but no statistical difference was observed between the two types of specimens (x2 =2.358,P > 0.05).Conclusions BIOMED-2 multiplex PCR tubes TCRγ(A+B) are suitable for the detection of clonal rearrangements of TCRγgene in different types of specimens,especially in fresh tissue specimens,from patients with MF.
3.The clinical value of prostate specific antigen for diagnosis of prostate cancer
Guangda HE ; Guanghua PENG ; Huiqin ZHANG ; Bilin YANG ; Xihuan ZHOU ; Jiali LU ; Shan LIN ; Yunfeng WENG
Chinese Journal of Primary Medicine and Pharmacy 2009;16(7):1212-1213,1346
Objective To research the relationship between free/total prostate specific antigen (f/t PSA), PSA density(PSAD) and prostate cancer(PCa), to explore healthy middle and old-aged,the patients with BPH, the scope of reference value of PSA,frce PSA(fPSA), f/t PSA and PSAD in patients serum with PCa. Methods To de-tect 307 cases of healthy gerontism male,236 of BHP and 41 of PSA and fPSA in patients with PCa,to calcuLate f/t PSA and PSAD, to investigate the dependability between PSA ,I"PSA ,f/t PSA ,P SAD and healthy male, the patients ofBHP,the PCa ,to determine the scope of reference value PSA,fPSA,f/t PSA and PSAD fitting for Chinese. Results PSA and fPSA in patients with PCa are obviously higher than normal control(P <0.01). f/t PSA is obviously lower than the BPH and normal control(P < 0.01). When PSA is 9.25 and f/t PSA is 20%, there are better value of clini-cal diagnosis,when PSAD is 0.18 (AUC = 0.635), we can get best aceuration of diagnosis. Conclusions f/t PSA and PSAD are better than PSA in clinical diagnosis. When PSA is more than 9.25,f/t PSA is less than 20% or PSAD is more than 0.18 is significance for diagnosis. The normal reference value of PSA less than 9.25,f/t PSA more than 20%, PSAD less than 0.18 is fit for Chinese.
4.Two cases of cutaneous lymphadenoma: a histological and immunohistological study
Liuqing CHEN ; Hongying CHEN ; Ling MA ; Bilin DONG ; Yihua JIANG ; Liang ZHANG ; Weizhen WANG ; Yiqun DUAN
Chinese Journal of Dermatology 2009;42(7):445-447
The histological and immunohistological features of two cases of cutaneous lymphadenoma was studied. A single, erythematous nodule with smooth surface developed on the face of both patients. The lesion slowly progressed. Histology revealed irregular epithelial lobules in the dermis which showed a peripheral palisaded border of basaioid-like cells as well as a center composed of clear cells. Some epithelial lobules and surrounding stroma were infiltrated by numerous small lymphocytes. Immunohistological study showed that the lymphocytic infiltration was predominantly composed of T cells (CD3 positive) along with a small number of B cells (CD20 positive). Within epithelial lobules and surrounded stroma, there were numerous dendritic cells that were positive for S-100 and CDia but negative for cytokeratin 7, cytokeratin 20 or carcino-embryonic antigen. In the center of epithelial lobules in one case, a few cells positive for epithe-lial membrane antigen and CD30 was observed. The diagnosis of cutaneous lymphadenoma was made according to the pathological and immunohistochemical findings, and the infiltration was predominated by CD3-positive lymphocytes in this uncommon epithelial neoplasm.
5.Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome
Bilin ZHANG ; Guangda XIANG ; Shiqiang XIANG ; Junxia ZHANG
Chinese Journal of Medical Genetics 2024;41(5):556-560
Objective:To analyze the clinical phenotype and genetic basis of a Chinese pedigree affected with Otopalatodigital syndrome type 1 (OPD1).Methods:A pedigree which was evaluated at the Department of Endocrinology, General Hospital of the Central Theater Command on December 3, 2020 was selected as the study subject. Clinical phenotype and genetic features of the proband were analyzed. Whole exome sequencing was employed to screen for genetic variants in the proband, and Sanger sequencing was used to verify the candidate variants in the proband′s mother, uncle, maternal aunt, and paternal aunt. Pathogenicity analysis was also conducted for the candidate variants.Results:The proband, a 16-year-old male, had shown distinctive facial features including mildly prominent eyebrows, down-slanting palpebral fissures, hypertelorism, and depressed nasal bridge. Additionally, he had clubbing of bilateral thumbs and big toes, and central type diabetes insipidus. Genetic sequencing revealed that he has harbored a heterozygous c. 586C>T (p.R196W) missense variant of the FLNA gene (NM_001110556.2), which was also carried by his mother and uncle. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as likely pathogenic (PM1+ PM2_Supporting+ PP2+ PP3+ PS4 Supporting). Conclusion:The heterozygous c. 586C>T (p.R196W) variant of the FLNA gene probably underlay the pathogenesis in this OPD1 family. The central type diabetes insipidus in the proband may represent a newly discovered phenotype of OPD1. Above finding has contributed crucial information for the comprehensive understanding of the clinical manifestations and pathogenic mechanisms of OPD1.
6.Establishment of an athymic BALB/c mouse model with chronic infection due to Phialophora verrucosa
Yao CHEN ; Bilin DONG ; Xu ZHANG ; Liuqing CHEN ; Dongsheng LI ; Zhongsheng TONG
Chinese Journal of Dermatology 2017;50(10):724-728
Objective To establish an athymic (nu/nu)BALB/c mouse model with chronic subcutaneous infection due to Phialophora verrucosa (P.verrucosa),and to explore the role of T lymphocytes in defensing against invasive infection due to P.verrucosa.Methods Six immunocompetent BALB/c mice and 6 nu/nu BALB/c mice were subcutaneously inoculated with 100 μl of P.verrucosa hyphae suspensions at a concentration of 5.0 × 108 colony-forming unit (CFU)/ml into one footpad,while another 6 immunocompetent BALB/c mice and 6 nu/nu BALB/c mice were subcutaneously inoculated with 100 μl of 5.0 × 108 CFU/ml P.verrucosa conidium suspensions into one footpad.The degree of footpad swelling was measured with a vernier caliper every 3 days.Histopathological characteristics of infected footpads were further analyzed.Biopsy tissues were also subjected to fungal culture to analyze the growth of P.verrucosa in infection foci in mice.Results After the treatment with hyphae or conidium suspensions,the BALB/c mice experienced transient footpad swelling within 12 days,and basically recovered after 50 days.However,the nu/nu BALB/c mice experienced persistent footpad swelling with recurrent ulceration and crusting.As pathological examination revealed,all the inoculation loci in BALB/c mice experienced local infection,and the morphology of P.verrucosa in the infected foci was not changed over time.However,invasive infections due to P.verrucosa hyphae alone or a mixture of P.verrucosa hyphae and sclerotic cells were observed in all the inoculation loci in nu/nu BALB/c mice.The fungal culture showed that P.verrucosa could not grow in the footpads of BALB/c mice after 21 days,while P.verrucosa could persistently grow in the footpads of nu/nu BALB/c mice.Conclusion An experimental model with subcutaneous phaeohyphomycosis due to P.verrucosa has been successfully established by using nu/nu BALB/c mice,and the nu/nu BALB/c mice are more susceptible to P.verrucosa infection compared with the immunocompetent BALB/c mice.
7.Nomogram prediction model construction and verification for pediatric acute perforation appendicitis
Wenlong TANG ; Chengliang WAN ; Bo HAI ; Bilin XIONG ; Chenjun ZHENG ; Chuanbo ZHANG ; Chunfeng HUANG ; Qiang BAI
Chongqing Medicine 2024;53(22):3463-3468
Objective To investigate the risk factors for pediatric acute perforation appendicitis,and to construct a nomogram predictive model and conduct the verification.Methods A total of 426 children patients with appendectomy in this hospital from June 30,2020 to June 30,2022 were selected as the study subjects 340 children with acute appendicitis admitted to the hospital from 30 June 2020 to 28 February 2022 were the training set and 86 children patients with appendicitis hospitalized in this hospital from March 1,2022 to June 30,2022 conducted the external validation(verification set).The univariate and multivariate logistic regression models were employed to analyze the independent risk factors of pediatric acute perforation appendicitis.The nomograms predictive model was constructed.The receiver operating characteristic(ROC)curve and calibra-tion curve were used to evaluate the predictive efficiency of the model.The decision curve analysis(DCA)was used to evaluate the application value of the model.Results Of the 426 children,198 were perforated and 228 were not perforated.The univariate and multivariate logistic regression analyses revealed that elevated C-reac-tive protein(CRP),presence of stercorolith in appendiceal cavity,time of onset to visiting hospital ≥2 d and body temperature ≥37.3 ℃ were the independent risk factors for pediatric acute perforation appendicitis(P<0.05).The Hosmer-Lemeshow test demonstrated that the nomogram predictive model had good fitting(P=0.869),and the area under the curve(AUC)for the training and validation sets were 0.808 and 0.860 respectively,showing the good predictive ability of the model.The calibration curve closely approach the ideal diagonal.The model showed good discrimination,consistency and accuracy.The DC A revealed that the curve was far away from oblique and horizontal lines,and the model had good clinical practicability.Conclusion The constructed nomogram model of pediatric acute perforation appendicitis has good predictive ability and may help clinic to identify as early as possible.