2.Tyk2 gene mutations in primary immunodeficiency disease:a case report and literature review
Tingyan HE ; Li YU ; Fangfang LIANG ; Yu XIA ; Jun YANG
Journal of Clinical Pediatrics 2016;34(10):779-782
Objective To explore the clinical features and diagnosis of primary immunodeifciency disease caused byTyk2 gene mutations.Methods Clinical data from the ifrst case in China diagnosed of primary immunodeifciency disease caused by Tyk2 gene mutation were retrospectively analyzed, and related literature was reviewed.Results One year and 3 month old boy suffered with repeated pulmonary infection, chronic otitis media, intractable eczema like rash, repeated skin abscess, HSV infection, intracellular bacterial infection, and remarkedly increased total IgE. It was detected that compound heterozygous mutations of c.2269C>G in No. 16 exon and c.149delC in No. 3 exon inTyk2 gene. Literature searching found other 8 cases (5 males and 3 females) of immune deifciency patients caused byTyk2 gene defects, all of which hadTyk2 gene homozygous mutations and presented with repeated infection of paranasal sinus and lung. In the 8 cases 6 cases were combined with mycobacterium tuverculosis infection, 4 cases had repeated virus infection, 4 cases had meningonecephalitis, 3 cases had intractable eczema like rash, 2 cases had salmonella enteritis, 1 case had remarkedly increased total IgE, one case had elevated eosinophils, 5 cases were born in intermarriage family and 1 case died of meningitis caused by unknown etiology.Conclusions When patients have repeated paranasal sinus infection and lung infection, combined with intracellular bacterial infection (including mycobacterium tuberculosis infection), and repeated virus infection or intractable eczema like rash, with or without increased total IgE, immunodeifciency disease caused by Tyk2 gene defection should be considered. Gene sequence analysis can assist in early diagnosis.
3.Etiology and clinical features of acute pancreatitis in young patients
Wei TAN ; Hesheng LUO ; Jun YAN ; Yu CHEN ; Hong XIA
Chinese Journal of General Practitioners 2011;10(5):320-323
Objective To investigate etiology and clinical features of acute pancreatitis (AP) in young patients. Methods In total, 423 patients with AP admitted to Renmin Hospital of Wuhan University, Wuhan, Hubei province during January 2006 to December 2009 were retrospectively analyzed, 55 cases aged 34 years or less as young group and another 55 cases aged more than 34 years as middle- and elderly-age group. Their etiology, clinical features and illness scores based on some standard criteria were assessed. Results Proportion of varied etiologies of AP in young group was different from that in middle- and elderly-age one (x2 = 17. 107, P = 0. 009) , mainly as biliary and idiopathic pancreatitis in young group and as biliary and alcoholic pancreatitis in middle- and elderly-age one. Incidence of diet-related and idiopathic pancreatitis were higher in young group than that in middle- and elderly-age one ( x2 =4. 853, P = 0. 028 and x2=4. 274, P = 0. 039 ). Scores of the acute physiology and chronic health evaluation II ( APACHE II ) , Ranson criteria and the bedside index for severity in acute pancreatitis ( BISAP) were all lower in young group than those in middle- and elderly-age one (t = 5. 381 , P = 0. 000; t = 4. 388 , P = 0. 000 and t=3. 083, P = 0. 003 ) . There was no statistically significant difference in scores of computed tomography severity index ( CTSI) between young group and middle- and elderly-age one (t = ±0. 750, P > 0. 05 ) . Recurrence rate of AP was lower in young group than that in middle- and elderly-age one ( x2 =4. 251, P = 0. 039). Cholecystitis was more complicated in young group, pregnancy was more complicated in young group (x2 =4. 151 , P =0. 042) , and elevated blood glucose was more complicated in middle- and elderly-age one (x2 = 13. 285 , P = 0. 000 ) . Conclusions Etiology of AP varies in young patients with more dietary factors, occurrence of systemic complications and risks for death are lower in young group than those in middle- and elderly-age one, and there was no statistically significant difference in local complications and severity of illness between the two groups.
4.Analysis on standardized training for graduates majored in health management
Baojing XIA ; Hongdian YU ; Jun HE ; Xiaoqing LI ; Shaoping WU
Chinese Journal of Medical Education Research 2012;11(7):732-734
To explore the model of the standardized training for health management talents by referring to the standardized training for resident-doctors.This article analyzed the necessities of the model of the standardized training for health management talents from two aspects.After that,it elaborated on the significance of standardized training.At last,it proposed some ideas about constructing the standardized training for health management talents.
8.Pleomorphic adenoma of nasal cavity in fancy.
Yin-ping WANG ; Jun-ge ZHANG ; Yan-xia YU
Chinese Journal of Pathology 2005;34(4):251-251
Actins
;
metabolism
;
Adenoma, Pleomorphic
;
metabolism
;
pathology
;
surgery
;
Diagnosis, Differential
;
Glial Fibrillary Acidic Protein
;
metabolism
;
Humans
;
Infant
;
Keratins
;
metabolism
;
Male
;
Nasal Cavity
;
pathology
;
Neoplasm Recurrence, Local
;
Nose Neoplasms
;
metabolism
;
pathology
;
surgery
;
Reoperation
;
Vimentin
;
metabolism
9.Signal mining for adverse drug reactions based on healthcare big data: methodology and applications
Xia ZHAO ; Yao CHEN ; Jun LIAO ; Feng YU ; Sheng LIN
Chinese Journal of Hospital Administration 2017;33(5):373-376
This paper presented the conventional methods for signal detection of adverse drug reactions (ADRs) and their applications, the research progress in ADRs signal mining based on healthcare big data, and briefed the methods and uses of ADRs prediction using machine learning technology in the era of healthcare big data.The conclusion was that deep learning, as a fast growing tool in machine learning, will become hotspot of research, expected to help with ADRs signal mining and rational clinical drug use.
10.Inhibitory effects and mechanism of arsenic trioxide on the growth of melanoma B16 cells
Jun XIA ; Junxia CHEN ; Lihua YU ; Xiuyun CUI ; Zhiwe CHEN
Chinese Pharmacological Bulletin 2003;0(09):-
Aim The present study was designed to investigate the growth inhibition and anti-angiogenesis of arsenic trioxide (As 2O 3) on B16 cells xenografts in C57BL/6J mice and observe the effects of As 2O 3 on cell proliferation, cell morphology, cell cycle and apoptosis in vitro. Methods Mice melanoma cell line B16 was transplanted into C57BL/6J mice. The weight of tumor and percent of tumor development were examined after As 2O 3 intraperitoneal administration. HE staining and immunohistochemistry for Ⅷ-R Ag were performed to detect the microvessel density in tumor tissues. CellTiter 96 Aqueous One was used to determine the cell proliferation. Giemsa and Feulgen staining were used to observe the morphological changes of the cells. Cell cycle and apoptosis were analyzed by flow cytometry (FCM). Results As 2O 3 significantly inhibited the tumor growth in vivo, with an inhibitory rate of 81.61%. The microvessel density in tumor tissues was obviously reduced after treated with As 2O 3. There was obviously a concentration-dependent relationship between As 2O 3 and the inhibition of B16 cells proliferation (P