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Objective: To investigate the clinicopathological features, treatment and prognosis of patients with RET fusion positive non-small cell lung cancer (NSCLC). Methods: A total of 1 089 NSCLCs were retrieved at Affiliated Hospital of Jiangnan University from August 2018 to April 2020. In all cases, multiple gene fusion detection kits (fluorescent PCR method) were used to detect the gene status of RET, EGFR, ALK, ROS1, KRAS, BRAF and HER2; and immunohistochemical method was used to detect the expression of PD-L1 and mismatch repair related proteins. The correlation between RET-fusion and patients' age, gender, smoking history, tumor stage, grade, pathologic type, and PD-L1, mismatch repair related protein expression was analyzed. Results: There were 22 cases (2.02%) detected with RET fusion-positive in 1 089 NSCLC patients, in which 11 males and 11 females; and the median age was 63.5 years. There were 20 adenocarcinomas, including 11 acinar predominant adenocarcinoma (APA), five solid predominant adenocarcinoma (SPA) and four lepidic predominant adenocarcinoma (LPA); There were one case each of squamous cell carcinoma (non-keratinizing type) and sarcomatoid carcinoma (pleomorphic carcinoma). There were 6 and 16 patients with RET fusion-positive who were in stage Ⅰ-Ⅱ and Ⅲ-Ⅳ respectively, and 16 cases with lymph node metastasis, 11 cases with distant metastasis. Among RET fusion-positive cases, one was detected with HER2 co-mutation. The tumor proportion score of PD-L1≥1% in patients with RET fusion positive lung cancer was 54.5% (12/22). Defects in mismatch repair protein expression were not found in patients with RET fusion positive NSCLC. Four patients with RET fusions positive (two cases of APA and two cases of SPA) received pratinib-targeted therapy, and two showed benefits from this targeted therapy. Conclusions: The histological subtypes of RET fusions positive NSCLC are more likely to be APA or SPA. RET fusion-positive NSCLC patients are associated with advanced clinical stage, lymph node metastases, and they may benefit from targeted therapy with RET-specific inhibitors.
Subject(s)
Male , Female , Humans , Middle Aged , Carcinoma, Non-Small-Cell Lung/pathology , Lung Neoplasms/pathology , B7-H1 Antigen/genetics , Protein-Tyrosine Kinases/genetics , Proto-Oncogene Proteins c-ret/metabolism , Proto-Oncogene Proteins/genetics , Adenocarcinoma/pathology , Carcinoma, Squamous Cell/genetics , MutationABSTRACT
Objective:This work aims to assess the distribution of peripheral blood monocyte subsets, the expression level of the functional markers in rheumatoid arthritis (RA) patients, and analyze the correlation between the above indexes and the onset of RA.Methods:Peripheral blood mononuclear cells were collected and isolated from 62 RA patients, 52 healthy control (HC) and 12 disease control group′s patients via density centrifugation. The enrolled patients were attended or underwent physical examination in East Hospital, Tongji University from June 2020 to December 2021. Monocytes could be classified into classical (CM), intermediate (IM) and non-classical (NCM). Then, the flow cytometry was performed to examine the distribution of monocyte subsets and the measure the expression level of human leukocyte antigen DR (HLA-DR), intracellular tumor necrosis factor α (TNF-α) in peripheral blood monocytes. The statistical methods in this study mainly include: Kruskal-Wallis H test, Chi-Square test, Mann-Whitney U test, Wilcoxon matched-pairs signed ranks test, Spearman correlation coefficient test and Logistic regression analysis. The diagnostic value of IM proportion in RA was analyzed by ROC curve. Results:The monocytes number and monocytes proportion in white blood cells were much higher in RA [0.40 (0.40, 0.50), 7.60% (5.97%, 8.53%)] and disease control [0.40 (0.40, 0.68), 8.20% (5.85%, 10.28%)] compared with HC [0.30 (0.30, 0.40), 5.80% (5.03%, 6.38%)] ( H=24.733, P<0.001; H=27.469, P<0.001). A statistic-significant difference was detected among the proportion of CM[85.49%(76.91%,89.21%),88.94%(86.36%,91.72%),90.26%(80.25%, 92.56%)],IM[11.65%(8.47%,17.89%),7.89%(5.36%,10.75%), 5.56%(4.17%, 8.27%)], NCM[2.22%(1.39%, 3.74%), 2.49%(1.74%, 4.66%), 5.13%(3.39%, 9.85%)] in RA group, HC group and disease control group ( H=11.389, P=0.003; H=20.815, P<0.001; H=10.640, P=0.005). The proportion of CM was lower in RA and the IM proportion was increased in RA( P=0.003; P=0.003). The intracellular TNF-α level of monocytes in all three groups revealed the trend that IM>NCM>CM. The intracellular TNF-α in IM of RA was positively associated with serum TNF-α ( r=0.376, P=0.041). The HLA-DR expression in IM subsets were higher than CM and NCM subsets in all RA,HC and disease control groups. The expression of HLA-DR of IM in RA group and disease control was higher than HC group [8 611.50 (6201.3, 9890.8), 10 295.0 (7 899.0, 13632.0), 6 278.00(4 057.8, 9522.0), H=10.495, P=0.005]. There were no correlations between the proportion of peripheral blood IM and clinical characteristics CRP ( r=0.119, P=0.359), RF ( r=0.204, P=0.112) and ESR ( r=0.153, P=0.236). Logistic regression analysis showed that the proportion of IM ( OR=1.169, 95% CI 1.003-1.363, P=0.046), CRP ( OR=1.277, 95% CI 1.000-1.631, P=0.050), RF ( OR=1.179, 95% CI 1.080-1.287, P<0.001) are positively correlated with RA onset. The area under ROC curve for diagnosis of RA with IM proportion was 0.687, and the 95% confidence interval was 0.590-0.784, P<0.001. Conclusions:The distribution of monocyte subsets in peripheral blood of RA patients is abnormal. The increase in the proportion of IM, the enhanced antigen-presenting ability, and the increased level of TNF-α secretion in RA patients may play an important role in the pathogenesis of RA.
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Objective:To explore the clinical significance of combined detection of the promoter methylation of plasma free Septin9, SDC2 and BCAT1 genes in peripheral blood for the diagnosis of colorectal cancer. Methods The data of patients admitted to the Department of Gastroenterology, Shanghai East Hospital Affiliated to Tongji University from January to September 2019 were retrospectively analyzed. They were divided into colorectal cancer group (62 cases of colon cancer, 59 cases of rectal cancer), precancerous lesions group (77 cases of colorectal adenoma, 5 cases of high-grade intraepithelial neoplasia), interference group (61 cases of colorectal cancer and advanced adenoma negative but suffered other intestinal lesions, 17 cases of non-colorectal cancer) and healthy group (94 cases). The methylation status of three genes (Septin9, SDC2 and BCAT1) in peripheral blood plasma was detected simultaneously by fluorescence PCR. The relationship between the positive rate of three genes detected jointly and the clinic pathological characteristics of colorectal cancer was analyzed and compared with serum carcinoembryonic antigen (CEA) positive rate. The colorectal cancer group was divided into stage Ⅰ, Ⅱ, Ⅲ and Ⅳ according to TNM stage, and the colorectal cancer group was analyzed and counted by grade. The diagnostic efficiency of detection methods was analyzed by receiver operating characteristic (ROC) curve, and the area under ROC curve (AUC) was compared.Results:The positive rate of combined detection of SDC2 and BCAT1 gene methylation was higher than other three groups (χ 2 =237.246, P<0.001). The positive rate of combined detection of plasma Septin9, SDC2 and BCAT1 gene methylation was higher than CEA in colorectal cancer group ( P<0.001). The positive rates of the combined detection of plasma Septin9, SDC2 and BCAT1 gene methylation in stage Ⅰ-Ⅳ of colorectal cancer group were 73%(16/22), 87%(34/39), 86%(30/35) and 96%(24/25), respectively. Compared with CEA group, the positive rate of combined detection of plasma Septin9, SDC2 and BCAT1 gene methylation in stage Ⅰ-Ⅲ of colorectal cancer group was higher than serum CEA ( P<0.001), but the positive rate of stage Ⅳ was not statistically significant compared with CEA group ( P>0.05). ROC curve analysis showed that the AUC of Septin9, SDC2 and BCAT1 was 0.857(95% CI 0.810-0.903),0.819(95% CI 0.768-0.871)and 0.862(95% CI 0.816-0.909), respectively. The AUC of combined detection of three gene methylations was 0.889 (95% CI 0.846-0.933), and the AUC of combined detection with serum CEA was 0.913 (95% CI 0.874-0.951). There was no significant difference in the positive rate of combined detection of Septin9, SDC2 and BCAT1 gene methylation among different gender, age and cancerous site of colon cancer patients (all P>0.05). Conclusion:The combined detection of the promoter methylation of plasma free Septin9, SDC2 and BCAT1 genes in peripheral blood plasma is helpful for the early diagnosis of colorectal cancer. The positive rate in stage Ⅰ-Ⅲ of colorectal cancer group is higher than serum CEA. The combined diagnosis of the three genes can improve the diagnostic efficiency.
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Objective:To evaluate the clinical effect of fibula flap in the repair of large segment of composite tissue defect in upper limb.Methods:From April, 2015 to June, 2019, 7 patients with large composite tissue defects in upper limbs were treated. All of them with various skin, vessel, nerve, tendon and other tissue defects. Repairing was well planned before surgery according to the type, location and size of defect. While in repairing of the bone and skin defect, fibula flap was taken from the shank and to repair the defects of nerve, tendon and vessels in upper limb. Regular followed-ups were made after surgery.Results:The 7 fibula flaps all survived. Postoperative follow-up ranged between 8 to 36 (averaged of 15) months. All the reconstructed limbs were in satisfactory appearance and function recovery. All the patients were able to manage their daily activities and live independently. The shape and function of donor sites were good. According to the Enneking system, the outcomes were graded as excellent in 4 cases and good in 3, with the average score was 25.9 points.Conclusion:Free grafting of vascularised fibula flap is especially feasible to be used in the repair of large bone tissue defect of upper limb. It repairs the defects of skin, vessel, nerve and tendon with the flap from a single donor site.
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INTRODUCTION@#Uterine rupture is uncommon but has catastrophic implications on the pregnancy. A scarred uterus and abnormal placentation are known contributory factors. The aim of our study was to review the contributing factors, clinical presentation, complications and management of uterine rupture in our population in light of the changing nature of modern obstetric practices.@*METHODS@#A retrospective observational study was conducted at KK Women's and Children's Hospital by studying proven cases of uterine rupture in the period between January 2003 and December 2014. These cases were analysed according to their past history, clinical presentation, complications, management and outcome.@*RESULTS@#A total of 48 cases of proven uterine rupture were identified. The incidence of uterine rupture was 1 in 3,062 deliveries. The ratio of scarred uterus rupture to unscarred uterus rupture was approximately 3:1. The most common factor was previous lower segment caesarean section for the scarred group, followed by a history of laparoscopic myomectomy. Abdominal pain was the common clinical presentation in the antenatal period, while abnormal cardiotocography findings were the most common presentation in intrapartum rupture.@*CONCLUSION@#There is a notable shift in the trend of uterine rupture cases given the increasing use of laparoscopic myomectomy and elective caesarean sections. While ruptures from these cases were few, their presentation in the antenatal period calls for diligent monitoring with informed patient involvement in their pregnancy care.
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Objective@#This study was performed to evaluate the efficacy of metformin on liver fat content (LFC) in first episode schizophrenia patients with olanzapine-induced weight gain, and the relationship between the change of LFC and the other metabolic indices. @*Methods@#In a double-blind study, the clinically stable inpatients with first-episode schizophrenia under olanzapine monotherapy who gained more than 7% of their baseline weight were randomly assigned to two groups; one with olanzapine plus metformin (1,000 mg/day) (metformin group) and the other with olanzapine plus placebo (placebo group) for 16 weeks. All patients continued to maintain the original olanzapine dosage. LFC was measured by magnetic resonance imaging at baseline and at the end of 16 weeks, respectively. At the same time, glucose and lipid metabolism, homeostasis model assessment of insulin resistance index (HOMA-IR) were measured respectively, analyzing the correlation between the change value of LFC and other indicators. @*Results@#Over the 16-week study period, LFC value in metformin group decreased compared with baseline. LFC change across the 16-week treatment period was −2.91% for the metformin group and 0.59% for the placebo group, with a between-group difference of −3.5% (95% confidence interval, −6.08 to −0.93; p = 0.009). Compared to baseline, in the metformin group, triglyceride and HOMA-IR reduced significantly, while high density lipoprotein cholesterol increased significantly at weeks 16. There was positive correlation between LFC changes and triglycerides, HOMA-IR changes significantly. @*Conclusion@#Metformin can significantly attenuate LFC in schizophrenia patients with olanzapine-induced weight gain. It may be related to the improvement of the part of the glucolipid metabolic indices.
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Objective:To investigate the correlation between asymmetrically prominent cortical veins (APCV) on susceptibility-weighted imaging (SWI) and early neurological deterioration (END) in patients with acute ischemic stroke.Methods:From October 2016 to September 2018, patients with acute ischemic stroke admitted to the Department of Neurology, Donghua Hospital Affiliated to Sun Yat-sen University were enrolled retrospectively. They completed MRI within 3 d of onset. APCV was evaluated using SWI. END was defined as the National Institutes of Health Stroke Scale (NHISS) score at any time point within 7 d after the onset increased by ≥2 or the motor function item score increased by ≥1 from baseline. Multivariate logistic regression analysis was used to determine the independent correlation between APCV and END. Results:A total of 133 patients with acute ischemic stroke were enrolled, including 40 females and 93 males, with a median age of 57.3 years (interquartile range: 47.5-67.5 years). Baseline NIHSS score was 5.9±5.0. Fifty-one (38.3%) patients had APCV, and 38 (28.6%) had END. The proportions of APCV, ipsilateral large vessel stenosis, and patients receiving anticoagulation after admission were significantly different between the END group and the non-END group ( P<0.05). Multivariate logistic regression analysis showed that after adjusting for age and gender, APCV was an independent risk factor for END in patients with acute ischemic stroke (odds ratio 6.907, 95% confidence interval 2.798-17.052; P<0.001). Conclusions:APCV on SWI was an independent risk factor for END in patients with acute ischemic stroke.
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Objective:To introduce an improved method for reconstruction of thumb by transplanting partial second toe combined with hallucis flap.Methods:Since April, 2015 to December, 2019, 12 thumbs were reconstructed by transplanting partial second toe combined with hallucis flap. The average age of the patients was 28.5 years old. The severity of thumb defect was grade III-V. The compound tissue flap of common vascular pedicle was obtained from the hallux and the partial second toe of the contralateral foot, according to the condition of the defect of thumb. The hallucis flap was rotated transversely and connected with the partial second toe. Make up the characteristics and defects for the reconstructed thumb. The remaining skin and soft tissue of the second toe and the donor area were tiled to cover the wound. The patients were followed-up regularly.Results:All of the 12 transplantations completely survived. Postoperative follow-up period ranged from 6 to 26 months, 14 months in average. Appearances of all reconstructed thumbs and the donor toes was satisfactory. According to the Functional Assessment Criteria of the Upper Limb set by the Hand Surgery Society of Chinese Medical Association, the outcomes were graded excellent in 9 cases and good in 3 cases. All patients were able manage daily activities and living independently. Shape and function of donor foot were good.Conclusion:Part of the second toe combined with the hallucis flap transfer for thumb reconstruction may effectively improve the appearance of the reconstructed thumb. The reconstructed thumb is symmetrical, good in shape and satisfactory in function.
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Objective: To analyze the differentially expressed miRNAs in triple negative breast cancer (TNBC) and predict their target genes through The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases, to explore their biological functions and molecular mechanisms, and to find the prognosis-related targets of TNBC. Methods: A total of 343 miRNAs expression data related to breast cancer tissue and adjacent tissue were downloaded from the TCGA database to screen the differentially expressed miRNAs in breast cancer and adjacent tissue. The GEO database was used to validate the expressions of miRNAs in 26 kinds of cell lines of TNBC and the changes in serum miRNAs in the TNBC patients before and after chemotherapy. The target gene function of candidate miRNAs was analyzed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) signal pathway enrichment and protein interaction network. Results: The TCGA database showed that the expression level of miR-21-5p in breast cancer tissue was significantly higher than that in adjacent tissue (logFC = 5. 557, P<0. 01). The results of GEO database showed that the expression level of miR-21-5p increased in TNBC cell line was significantly higher; the relative expression levels in more than 20 kinds of cell lines from 26 TNBC cell lines were over 70 000, and the expression level of miR-21-5p in the TNBC patients after combined chemotherapy was significantly decreased (logFC= -5.07, P<0. 01). The GO analysis showed that miR-21-5p played a regulatory role in DNA replication, transcription and vascular remodeling. The KEGG enrichment analysis showed that miR-21-5p mainly affected the occurrence and development of TNBC through mitogen activated protein kinase (MAPK) and transforming growth factor-β (TGF-J3) pathways. Conclusion: miR-21-5p is up-regulated in TNBC tissue and plays a positive regulatory role in the progression of TNBC, which may be a key biomarker for identifying the prognostic extent of TNBC. DUSP8 may be involved in the regulation of the occurrence and development of TNBC as a target gene of miR-21-5p.
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Objective@#To introduce the method for reconstruction of thumb defect by transplanting free flap of second toe combined with the hallucis flap.@*Methods@#From June, 2012 to February, 2017, a total of 9 cases of thumb defect were treated. The average age of these 9 patients was 26 years. The plane of thumb defect was class II area A to class III area A. According to the condition of thumb defect, designed the incision on the hallux and the second toe of the contralateral foot, and cut the 2nd digit and big-toe nail flap with a common arterial trunk. The nail of hallucis flap was rotated 90 degree and connected to the distal end of the 2nd toe. The hallucis flap covered the narrow neck of the 2nd toe. Thus, the circumference of the reconstructed finger and the length of the toenail were increased. Regular followed-up was made after operation.@*Results@#All 9 transplantation flaps survived, and donor sites healed primarily. Postoperative followed-up period ranged from 4 to 12 (averge,7) months. All the reconstructed thumbs survived and donor toes were in satisfactory appearances. According to the Functional Assessment Criteria of the Upper Limb Formulated by the Hand Surgery Society of Chinese Medical Association, the outcomes were graded as excellent in 6 cases and good in 3 cases. All the patients were able to manage their daily activities independently. Donor toe injury was small, and their shape and function was good.@*Conclusion@#Free flap of second toe combined with hallucis can effectively improve the appearance of the reconstructed thumb. The appearance of the reconstructed thumb is symmetrical, beautiful, and the function is good.
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Objective@#To study the effect of Jiawei-Danshen Yin on anti-myocardial fibrosis and Notch signaling pathway in rats with myocardial fibrosis.@*Methods@#The rats were randomly divided into normal group (10 rats), model group (5 rats), latopril group (5 rats), low dose group (5 rats) and high dose group (5 rats). In addition to the normal group, the other groups of rats prepared myocardial fibrosis model. One hour after model establishment, the rats in high and low dosage groups were given 1.5 mg/ml and 3.0 mg/ml of modified salvia miltiorrhiza drink respectively, the rats in captopril group were given 1 mg/ml of captopril, the rats in model group and normal group were given saline of equal volume for 1 day/time for one week. The collagen volume fraction (CVF) was measured by pathological observation. The left ventricular mass index (LVMI), heart mass index (HWI), heart rate (HR), left ventricular systolic pre-existing (LVSP) left ventricular end diastolic pressure (LVEDP) and left ventricular systolic pressure were measured. Western blot was used to detect the expression of Notch1, NICD, Notch3 and α-SMA.@*Results@#Compared with the model group, the levels of LVMI (2.26 ± 0.01 mg/g, 1.48 ± 0.03 mg/g vs. 2.86 ± 0.06 mg/g), CVF (3.44% ± 1.45%, 2.62% ± 1.43% vs. 7.82% ± 1.95%), HWI (4.05 ± 0.02 mg/g, 3.11 ± 0.02 mg/g vs. 4.58 ± 1.05 mg/g) in the low and high dose groups of Jiawei-Danshen Yin significantly decreased respectively(P<0.05). The levels of LVEDP (10.16 ± 2.35 kPa, 6.25 ± 1.23 kPa vs. 13.15 ± 3.06 kPa) significantly decreased, HR (375.22 ± 20.36 time/min, 450.32 ± 22.13 time/min vs. 329.36 ± 22.01 time/min), LVSP (90.12 ± 6.32 kPa, 110.45 ± 10.71 kPa vs. 80.54 ± 10.35 kPa) significantly increased (P<0.05) respectively. The expression of Notch1 (0.83 ± 0.05, 1.11 ± 0.04 vs. 0.51 ± 0.06), NICD (0.72 ± 0.01, 1.06 ± 0.03 vs. 0.35 ± 0.05), Notch3 (0.62 ± 0.03, 1.20 ± 0.06 vs. 0.39 ± 0.05) in myocardial tissue significantly increased, and the expression of α-SMA (1.12 ± 0.08, 0.92 ± 0.05 vs. 1.43 ± 0.07) significantly decreased (P<0.05).@*Conclusions@#The Jiawei-Danshen Yin has a significant effect on myocardial fibrosis model rats. It can improve the anti-myocardial fibrosis ability by activating Notch signaling pathway.
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Objective@#To analyze clinical features and prognosis of 15 children with hydroa vacciniforme-like lymphoproliferative disorder (HVLPD) .@*Methods@#Clinical features, histopathological findings, treatment outcomes in 15 patients, who were diagnosed with HVLPD in the Department of Dermatology, Children′s Hospital of Chongqing Medical University from 2014 to 2018, were retrospectively analyzed.@*Results@#Among the 15 patients, 7 were males and 8 were females. The age of onset ranged from 2 to 13 years, and the average age was 6.5 years. Main clinical manifestations included facial edema, and papules, blisters, ulcers and crusts repeatedly occurring on both the sun-exposed parts such as the face and limbs and non-sun-exposed parts such as the trunk. Of the 15 patients, 13 had intermittent fever, 13 had hepatosplenomegaly, and 15 had lymphadenectasis. Moreover, kidney failure occurred in 1 patient, hemophagocytic syndrome occurred in 2, and lymphoma occurred in 1. Laboratory examination showed that 15 patients were all positive for Epstein-Barr virus (EBV) -immunoglobulin G (IgG) antibody, and all negative for EBV-IgM antibody. Additionally, high replication of EBV DNA was detected. Histopathological study of skin lesions showed mild to dense perivascular and periadnexal infiltration of lymphocytes in the dermis and subcutaneous tissue. Immunohistochemistry study showed positive staining for CD4 and CD8 in 13 of 15 patients, for CD56 in 7 of 15 patients, and for CD3 in 12 of 13 patients. Moreover, 9 of 11 cases were detected positive for T-cell intracellular antigen-1, 8 cases were all detected positive for granzyme B, and the Ki-67 proliferation index ranged from 3% to 50% in 11 of 12 cases. The treatment protocols were similar among the 15 patients. After the treatment, 2 patients showed stable disease condition, and 10 experienced relapse. During the follow-up, 2 patients developed hemophagocytic syndrome, 1 developed lymphoma, and the 3 patients finally died of the worsening condition after chemotherapy.@*Conclusions@#HVLPD is closely associated with chronic active EBV infection. Its clinical symptoms can be relieved after immunomodulatory therapies such as glucocorticoids, gamma globulin and interferon, and the clinical manifestations, treatment outcomes and prognosis vary greatly among different patients.
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Objective To analyze clinical features and prognosis of 15 children with hydroa vacciniforme-like lymphoproliferative disorder (HVLPD). Methods Clinical features, histopathological findings, treatment outcomes in 15 patients, who were diagnosed with HVLPD in the Department of Dermatology, Children's Hospital of Chongqing Medical University from 2014 to 2018, were retrospectively analyzed. Results Among the 15 patients, 7 were males and 8 were females. The age of onset ranged from 2 to 13 years, and the average age was 6.5 years. Main clinical manifestations included facial edema, and papules, blisters, ulcers and crusts repeatedly occurring on both the sun-exposed parts such as the face and limbs and non-sun-exposed parts such as the trunk. Of the 15 patients, 13 had intermittent fever, 13 had hepatosplenomegaly, and 15 had lymphadenectasis. Moreover, kidney failure occurred in 1 patient, hemophagocytic syndrome occurred in 2, and lymphoma occurred in 1. Laboratory examination showed that 15 patients were all positive for Epstein-Barr virus (EBV)-immunoglobulin G (IgG) antibody, and all negative for EBV-IgM antibody. Additionally, high replication of EBV DNA was detected. Histopathological study of skin lesions showed mild to dense perivascular and periadnexal infiltration of lymphocytes in the dermis and subcutaneous tissue. Immunohistochemistry study showed positive staining for CD4 and CD8 in 13 of 15 patients, for CD56 in 7 of 15 patients, and for CD3 in 12 of 13 patients. Moreover, 9 of 11 cases were detected positive for T-cell intracellular antigen-1, 8 cases were all detected positive for granzyme B, and the Ki-67 proliferation index ranged from 3％to 50％in 11 of 12 cases. The treatment protocols were similar among the 15 patients. After the treatment, 2 patients showed stable disease condition, and 10 experienced relapse. During the follow-up, 2 patients developed hemophagocytic syndrome, 1 developed lymphoma, and the 3 patients finally died of the worsening condition after chemotherapy. Conclusions HVLPD is closely associated with chronic active EBV infection. Its clinical symptoms can be relieved after immunomodulatory therapies such as glucocorticoids, gamma globulin and interferon, and the clinical manifestations, treatment outcomes and prognosis vary greatly among different patients.
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Objective To introduce the method for reconstruction of thumb defect by transplanting free flap of second toe combined with the hallucis flap. Methods From June, 2012 to February, 2017, a total of 9 cases of thumb defect were treated. The average age of these 9 patients was 26 years. The plane of thumb defect was class II area A to class III area A. According to the condition of thumb defect, designed the incision on the hallux and the second toe of the contralateral foot, and cut the 2nd digit and big-toe nail flap with a common arterial trunk. The nail of hallucis flap was rotated 90 degree and connected to the distal end of the 2nd toe. The hallucis flap covered the narrow neck of the 2nd toe. Thus, the circumference of the reconstructed finger and the length of the toenail were in鄄creased. Regular followed-up was made after operation. Results All 9 transplantation flaps survived, and donor sites healed primarily. Postoperative followed-up period ranged from 4 to 12 (averge,7) months. All the reconstructed thumbs survived and donor toes were in satisfactory appearances. According to the Functional Assessment Criteria of the Upper Limb Formulated by the Hand Surgery Society of Chinese Medical Association, the outcomes were graded as excellent in 6 cases and good in 3 cases. All the patients were able to manage their daily activities independently. Donor toe injury was small, and their shape and function was good. Conclusion Free flap of second toe combined with hallucis can effectively improve the appearance of the reconstructed thumb. The appearance of the reconstructed thumb is symmetrical, beautiful, and the function is good.
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Objective To investigate clinical features of hair collar sign in children and their implications.Methods Children with confirmed hair collar signs were collected from Department of Dermatology,Children's Hospital of Chongqing Medical University between January 2014 and December 2017.The morphology,distribution and quantity of skin lesions and auxiliary examination results were analyzed retrospectively in 15 patients with complete clinical records.Results The center of skin lesions manifested as a round cystic lesion or a slightly depressed atrophic patch or plaque with lack of hair on the surface of the lesions.The lesions were surrounded by thick and long hair in 13 patients.The skin lesions occurred on the parietal lobe in 9 patients,and on occipital or temporal region in other patients.Of the 15 patients,14 had solitary lesions,and 1 had multiple lesions.Six patients were complicated by nevus flammeus.Brain magnetic resonance imaging examination of 11 patients revealed abnormalities in 2,including 1 with potential skull defect and brain tissue bulging,and 1 with cystic changes on the outer side of the cranial plate.B-mode ultrasound of the brain was performed in 4 patients,and no abnormality was found.Conclusions The skin lesions of hair collar sign are various,and most are solitary lesions.It mostly occurs on the parietal lobe,and is often complicated by nevus flammeus.This sign may suggest the presence of central nervous system malformation in patients.
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Objective To study the effect of Jiawei-Danshen Yin on anti-myocardial fibrosis and Notch signaling pathway in rats with myocardial fibrosis. Methods The rats were randomly divided into normal group (10 rats), model group (5 rats), latopril group (5 rats), low dose group (5 rats) and high dose group (5 rats). In addition to the normal group, the other groups of rats prepared myocardial fibrosis model. One hour after model establishment, the rats in high and low dosage groups were given 1.5 mg/ml and 3.0 mg/ml of modified salvia miltiorrhiza drink respectively, the rats in captopril group were given 1 mg/ml of captopril, the rats in model group and normal group were given saline of equal volume for 1 day/time for one week. The collagen volume fraction (CVF) was measured by pathological observation. The left ventricular mass index (LVMI), heart mass index (HWI), heart rate (HR), left ventricular systolic pre-existing (LVSP) left ventricular end diastolic pressure (LVEDP) and left ventricular systolic pressure were measured. Western blot was used to detect the expression of Notch1, NICD, Notch3 and α-SMA. Results Compared with the model group, the levels of LVMI (2.26 ± 0.01 mg/g, 1.48 ± 0.03 mg/g vs. 2.86 ± 0.06 mg/g), CVF (3.44% ± 1.45%, 2.62% ± 1.43% vs. 7.82% ± 1.95%), HWI (4.05 ± 0.02 mg/g, 3.11 ± 0.02 mg/g vs. 4.58 ± 1.05 mg/g) in the low and high dose groups of Jiawei-Danshen Yin significantly decreased respectively(P<0.05). The levels of LVEDP (10.16 ± 2.35 kPa, 6.25 ± 1.23 kPa vs. 13.15 ± 3.06 kPa) significantly decreased, HR (375.22 ± 20.36 time/min, 450.32 ± 22.13 time/min vs. 329.36 ± 22.01 time/min), LVSP (90.12 ± 6.32 kPa, 110.45 ± 10.71 kPa vs. 80.54 ± 10.35 kPa) significantly increased (P<0.05) respectively. The expression of Notch1 (0.83 ± 0.05, 1.11 ± 0.04 vs. 0.51 ± 0.06), NICD (0.72 ± 0.01, 1.06 ± 0.03 vs. 0.35 ± 0.05), Notch3 (0.62 ± 0.03, 1.20 ± 0.06 vs. 0.39 ± 0.05) in myocardial tissue significantly increased, and the expression of α-SMA (1.12 ± 0.08, 0.92 ± 0.05 vs. 1.43 ± 0.07) significantly decreased (P<0.05). Conclusions The Jiawei-Danshen Yin has a significant effect on myocardial fibrosis model rats. It can improve the anti-myocardial fibrosis ability by activating Notch signaling pathway.
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Objective To investigate the risk factors for malignant middle cerebral artery infarction (MMI) in different age groups.Methods Patients with middle cerebral artery infarction were analyzed retrospectively.They were divided into a young and middle-aged group (＜ 60 years) and an elderly group (≥60 years).The demography and vascular risk factors,stroke etiologies,baseline blood pressure,drug use before onset and common blood test results in patients with MMI and non-MMI were compared in general cases and each age group.Multivariate logistic regression analysis was used to determine the independent risk factors for MMI.ResultsA total of 912 patients with middle cerebral artery infarction were enrolled,including 299 females (32.79％) and 613 males (67.21％);401 young and middle-aged patients (43.97％) and 511 elderly patients (56.03％);159 patients in the MMI group (17.43％),and 753 (82.57％) in the non-MMI group.Multivariable logistic regression analysis showed that hypertension (odds ratio [OR]6.962,95％ confidence interval [CI] 1.349-35.934;P=0.021) and NIHSS score (OR 1.551,95％ CI 1.384-1.737;P ＜0.001) were the independent risk factors for MMI.Subgroup analysis showed that NIHSS score (OR 1.402,95％ CI 1.239-1.588;P＜0.001) was an independent risk factor for MMI in young and middle-aged patients;hypertension (OR 10.752,95％ CI 1.213-95.295;P =0.033),diastolic blood pressure (OR 1.080,95％ CI 1.002-1.164;P=0.044),and NIHSS score (OR 1.504,95％ CI 1.281-1.765;P＜ 0.001) were the independent risk factor for MMI in the elderly patients,while systolic blood pressure (OR 0.938,95％ CI 0.893-0.986;P =0.011) was an independent protective factor.Conclusions The baseline NIHSS score was an independent risk factor for MMI in each age group.Hypertension and diastolic blood pressure were the independent risk factors for MMI in the elderly patients,while systolic pressure was an independent protective factor.Therefore,timely NIHSS assessment and appropriate hypertension management had important significance for the prevention and treatment of MMI.
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Objective The sequence characteristics and polymorphism of the UL141 gene may help find the pathogenesis of human cytomegalovirus (HCMV) infection.This study was to charac-terize the sequences of HCMV UL141 in low-passage clinical isolates in Guangzhou . Methods We collected urine samples from 10 in-fants with clinically confirmed HCMV infection in the Guangzhou are-a, isolated low-passage clinical virus strains and identified them by multiplex PCR.We performed amplification, cloning, identification and sequencing of the HCMV UL141 gene and searched the GenBank for its homologous sequences followed by sequence analysis . Results The HCMV UL141 gene was found to have 2 open reading frames( ORF) , UL141a and UL141b, composed of 315 and 1017 nucleotides and included in the GenBank with the sequence numbers of DQ180372 and DQ180371, respectively.The full length of the UL141 gene in the low-passage HCMV clinical strain (D3) was 1277 bp, the coding protein consisting of 338 amino acid residues , and the full lengths of the ORFs UL 141a and UL141b were 315 bp and 1017 bp, respectively, with relatively conservative DNA sequences .Mutations were identified in 46 sites with base substitution but no insertion or deletion .The modification sites in all the isolated strains were relatively conservative after translation of the HCMV UL 141 coding protein.The isoelectric points of the UL141 protein were 8.36-8.68 for all the clinical isolates. Conclusion Polymorphism exists in the UL141 gene and its amino acid sequences of the HCMV low-passage clinical strains isolated from infants in Guangzhou , which has shed some light on the function of the ULl 41 protein and pathogenesis of HCMV infection .
ABSTRACT
Objective The sequence characteristics and polymorphism of the UL141 gene may help find the pathogenesis of human cytomegalovirus (HCMV) infection.This study was to charac-terize the sequences of HCMV UL141 in low-passage clinical isolates in Guangzhou . Methods We collected urine samples from 10 in-fants with clinically confirmed HCMV infection in the Guangzhou are-a, isolated low-passage clinical virus strains and identified them by multiplex PCR.We performed amplification, cloning, identification and sequencing of the HCMV UL141 gene and searched the GenBank for its homologous sequences followed by sequence analysis . Results The HCMV UL141 gene was found to have 2 open reading frames( ORF) , UL141a and UL141b, composed of 315 and 1017 nucleotides and included in the GenBank with the sequence numbers of DQ180372 and DQ180371, respectively.The full length of the UL141 gene in the low-passage HCMV clinical strain (D3) was 1277 bp, the coding protein consisting of 338 amino acid residues , and the full lengths of the ORFs UL 141a and UL141b were 315 bp and 1017 bp, respectively, with relatively conservative DNA sequences .Mutations were identified in 46 sites with base substitution but no insertion or deletion .The modification sites in all the isolated strains were relatively conservative after translation of the HCMV UL 141 coding protein.The isoelectric points of the UL141 protein were 8.36-8.68 for all the clinical isolates. Conclusion Polymorphism exists in the UL141 gene and its amino acid sequences of the HCMV low-passage clinical strains isolated from infants in Guangzhou , which has shed some light on the function of the ULl 41 protein and pathogenesis of HCMV infection .
ABSTRACT
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here we report PG in an 8-year-old patient with XLA. The patient received intravenous immunoglobulin treatment in conjunction with prednisone and topical application of 0.03% tacrolimus ointment and the ulcer was almost completely healed in the 2 weeks of follow-up. The coexistence has been rarely reported. XLA may be a possible cofactor in the pathogenesis of PG.