1.Clinical manifestation of Kaposi sarcoma in otorhinolaryngology head and neck surgery
De-Xian YU ; Shi-Jun PI ; Wen-Shan ZHANG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2013;48(3):241-243
Objective To improve the knowledge of Kaposi sarcoma and the relationship between Kaposi sarcoma and human immunodeficiency virus (HIV) infection,and to improve the ability to diagnose and treat Kaposi sarcoma and acquired immune deficiency syndrome (AIDS).Methods Symptoms,signs and results of 121 patients encountered in the department of otorhinolaryngology head and neck surgery in Tanzania,who was diagnosed as Kaposi sarcoma actually with HIV infection and AIDS,were retrospectively analyzed in this study.Results There were 46 males and 75 females with age ranged from 5 to 65 years,medium 30 year.The mucous membranes and skin lesions was the most commonly seen clinical manifestation in 121 cases,these lesions appeared as raised blotches or lumps that might be purple,brown,or red,early stages typical lesions began as flat or slightly raised colored spots.Among the cases reported here,25 patients(20.66%)showed progressive nose blockage and nose bleeding and the purple-red new-grows were found in the nose of these patients.Fifteen patients (12.40%) had fiat or slightly raised colored spots in their mucous membrane of mouth (palate or tongue),and in other 7 patients,purple small lumps were found in the gums of the patients.There were same lesions in their pharynx in 9 cases.In 10 patients (8.26%),Kaposi sarcoma was found in tonsil looked like tonsillitis with enlarged tonsils by two to three degree.Twelve patients(9.92%) had masses in the neck with no pain.Thirty-five patients(28.92%)had lesions of purple black nodules,including 10 patients who had the same lesions with ulcer formation in the nodules.All patients had been followed-up for at least two-years.Eighty-five patients passed away in one year,survival rate of one year was 21.48% (26/121),only 12 patients survived from the disease over two years,two years' survival rate was 9.92% (12/121).Conclusions Kaposi sarcoma is the characteristic disease for AIDS,mainly found on the membranes and skin.These lesions appears as raised blotches or lumps that may be purple,brown,or red,early stages typical lesions begin as fiat or slightly raised colored spots.Patients who had kaposi sarcoma often died in a short-time without treatment.
2.Down-regulation of PTEN expression in kidney and its role in development of diabetic nephropathy in rats.
Yuan-Yuan WANG ; Rui-Xia LIU ; Bing GUO ; Ying XIAO ; Ming-Jun SHI ; Ming-Jing PI ; Qing-Ying WEN ; Guo-Zhong ZHANG
Acta Physiologica Sinica 2011;63(4):325-332
Transforming growth factor-β1 (TGF-β1)-activated phosphoinositide-3-kinase (PI3K)-protein kinase B (PKB/Akt) pathway is intimately related to the development of diabetic nephropathy (DN), which is negatively regulated by phosphatase and tensin homolog deleted on chromosome ten (PTEN). The present study was to investigate the expression of PTEN in the renal tissue of diabetic mellitus (DM) rats and explore its possible effect on development of DN. Sixteen Sprague-Dawley rats were divided into normal control group (n = 8) and diabetic group (n = 8) at random. Streptozotocin injection was used to establish diabetic model. After 12 weeks, the rats were sacrificed to detect relative biochemical parameters and renal index, and to observe the changes of pathomorphology by HE staining as well. In addition, immunohistochemistry staining and Western blotting were employed to detect the protein expression of PTEN, TGF-β1, PI3Kp110α, Akt1, p-Akt1 (Ser(473)), fibronectin (FN) and Collagen IV, respectively. Furthermore, the expression of PTEN mRNA was also examined by RT-PCR. The results indicated that the levels of blood glucose, serum creatinine and urine protein (24 h) were increased remarkably in the diabetic group (P < 0.05) compared with those in the control group. Compared with those in the control group, the protein expressions of TGF-β1, PI3Kp110α, Akt1 in renal tubular epithelium and the expressions of FN and CollagenIV in renal interstitium were increased in the diabetic group (P < 0.05). The expression of PTEN in the diabetic group was significantly reduced than that in the control group (P < 0.05), and the expression of p-Akt1 (Ser(473)) increased remarkably in the diabetic group which had the similar trend to Akt1 (P < 0.05). PTEN mainly located in renal tubular epithelial cells. The expression of PTEN had negative correlation to that of p-Akt1 (Ser(473)). Compared with that in the control group, the expression of PTEN mRNA was decreased remarkably in the diabetic group (P < 0.05). The data suggest that the down-regulation of PTEN in renal tissue of DM rats may promote the PI3K-PKB/Akt pathway over-activated by TGF-β1, which facilitates the initiation and development of DN.
Animals
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Diabetes Mellitus, Experimental
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complications
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Diabetic Nephropathies
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metabolism
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Down-Regulation
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Kidney
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metabolism
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Male
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PTEN Phosphohydrolase
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genetics
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metabolism
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Phosphatidylinositol 3-Kinases
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metabolism
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Proto-Oncogene Proteins c-akt
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metabolism
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RNA, Messenger
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genetics
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metabolism
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Rats
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Rats, Sprague-Dawley
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Signal Transduction
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Transforming Growth Factor beta1
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metabolism
3.Human dermal fibroblast isolation using two enzyme digestion methods: a comparative study
Ji-An GUO ; Pi-Jun YU ; Lu-Ping WANG ; Ying-Ying SHI ; Yi LIU ; Wei CHEN
Chinese Journal of Tissue Engineering Research 2018;22(8):1205-1210
BACKGROUND: Dermal fibroblasts are widely used and demanded, and there are various isolation methods, but no comparative studies on enzyme digestion methods are reported. OBJECTIVE: To compare the cell count, morphology, migration and proliferation of human dermal fibroblasts isolated by two enzyme digestion methods. METHODS: Human dermal fibroblasts were isolated using either dispase-collagenase or trypsin, and their cell yield and viability were assessed by morphology, cell count and proliferation curve by cell counting-kit 8 assay. The ability of migration was observed by cell scratch test. RESULTS AND CONCLUSION: The fibroblasts digested with dispase-collagenase were fused at 6-7 days after inoculation, and the cells isolated by trypsin digestion were fused at 8-9 days after inoculation. Fibroblasts could be obtained by both two digestion methods. The production in the dispase-collagenase group was significantly higher than that in the trypsin group. The migration rate in the dispase-collagenase group was significantly faster than that in the trypsin group. The growth cures of the human dermal fibroblasts in the two groups revealed that the cell count was positively correlated with time, and the absorbance values of the dermal fibroblasts in the dispase-collagenase group were significantly higher than those in the trypsin group at 3, 4 and 5 days after incubation. To conclude, the cell yields, migration and proliferation of dermal fibroblasts digested with dispase-collagenase are significantly higher than those of the cells digested by trypsin, indicating that dispase-collagenase digestion results in better isolation and viability of dermal fibroblasts from the dermis.
4.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
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Child
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China/epidemiology*
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Cryptorchidism/genetics*
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Disorders of Sex Development/genetics*
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Female
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Genital Diseases, Male
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Genotype
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Humans
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Hypospadias/genetics*
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Male
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Membrane Proteins/genetics*
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Penis/abnormalities*
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Phenotype
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Retrospective Studies
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Steroid 21-Hydroxylase/genetics*