Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.

Objective In this paper we analyzed the major risk factors of hemorrhagic fever with renal syndrome(HFRS) as well as its clinical manifestation,so as to provide a basis for clinical diagnosis and effective control of HFRS in Xi'an.Methods The method of retrospective study was used to collect clinical data of hospitalized patients with HFRS between 2005 and 2010 in the Hospitals for Infectious Diseases in Xi'an city,Zhouzhi and Huxian counties and then clinical manifestations of the patients with HFRS were analyzed and classified according to the national standards for clinical symptoms and test indicators of HFRS.HFRS patients matched by the ratio of 1 ∶ 2 healthy human controls were retrospectively investigated in order to obtain risk factors relevant to HFRS incidence using casecontrol study.Odds ratio(OR) method was used for single factor study.While for the multifactor study,we took the conditional Logistic regression approach.We also built models for both studies.Factor with OR ＞ 1 and P ＜ 0.05 was judged to be a risk factor.Results A total of 3090 cases information of patients with HFRS and 6018 healthy controls were collected.Of the 3090 cases of HFRS patients,sixty vaccinated patients showed atypical clinical manifestations and they were mild or moderate cases and no deaths.A total of 3030 nonvaccinated patients had obvious clinical symptoms.Severe or critical cases accounted for 39.07％(1184/3030)and 60 patients died and the fatality rate was 1.98％ (60/3030).The results of single factor Logistic regression analysis showed that of the 16 factors analyzed,the difference of 11 risk factors between the case group and the control group was statistically significant.Multivariate Logistic regression analysis showed that of the 11 factors,the difference of six factors between the case group and the control group was statistically significant.The main risk factors of suffering HFRS in the order were:exposure to rat pollutants,living in the affected areas,sitting or lying on grass fields in the affected areas,working in the affected areas,house rat infestation,and domesticated cats or dogs(OR =6.826,5.764,4.882,4.857,3.126 and 2.875; P ＜ 0.01 or P ＜ 0.05).Conclusions Vaccines are very useful in the sense that vaccinated HFRS patients tend to have mild symptoms and good prognosis.Health education in this area should be focused on the six risk factors in order to prevent the spreading of HFRS.

Objective To investigate the role and potential mechanism of interleukin-17A (IL-17A) in the inflammatory response to traumatic brain injury (TBI) in rats.Methods The adult male Wistar rats were randomly (random number) divided into seven groups:control group (n =6),sham operation group (n =6),TBI group (n =24),sham operation + normal saline group (n =6),sham operation + Y320 (an immunomodulator acts as an inhibitor of IL-17A) group (n =6),TBI + normal saline group (n =6) and TBI + Y320 group (n =6).The TBI model of rat was established by using free-falling-body impact device.The levels of IL-17A and nuclear transcription factor kappa B p65 (NF-κB p65) in the cerebral cortex were assayed by using Western Blot.The capability of leaming and memory of rats was assessed by Morris water maze.The beam balance test was employed to evaluating the neurological motor performance and the capability of balance.Results Compared with the sham operation group,the levels of IL-17A and NF-κB p65 in the cerebral cortex of TBI,TBI + saline and TBI + Y320 groups increased significantly (P ＜0.05) and peaked at the 3rd day after TBI.Compared with TBI + normal saline group,the level of NF-κB p65 was significantly down regulated by Y-320 (P ＜ 0.05) at the 3rd day after TBI in TBI + Y320 group.The lengths of latency time required for rats to escape to the platform area in TBI + normal saline group were (57.72±3.29) s,(55.63±3.85) s,and (55.02±3.92) sat the3rd,5th and7th days after TBI,respectively;while those in TBI + Y320 group were (35.45 ± 3.04) s,(30.98 ± 2.92) s,and (23.90 ±2.51) s at the 3rd,5th and 7th days after TBI,respectively.Thus,the capability of learning and memory of rats in TBI + Y320 group was improved significantly 3d,5d and 7 days after TBI (all P ＜ 0.01).Conclusions This study shows IL-17A is involved in the process of secondary brain injury after TBI,and associated with inflammation by activating the NF-κB p65 signaling pathway.

Objective:To investigate the relationship between the changes in inflammatory markers levels and the onset of post-traumatic stress disorder (PTSD) in the early stage of acute trauma..Methods:From January 2018 to June 2020, patients with acute trauma who were admitted to the Affiliated Hospital of Xuzhou Medical University were selected as subjects. Peripheral venous blood was collected on admission, on the 3rd and 7th day after trauma for routine blood test, C-reactive protein (CRP) and procalcitonin (PCT). The neutrophil to lymphocyte ratio (NLR) was calculated. The PCL-5 scale was used to evaluate PTSD symptoms one month later. The patients were divided into the PTSD group and non-PTSD group with the score of 38 as the boundary. The change rule of NLR in the PTSD group and the non-PTSD group were analyzed.Results:Ninety-one trauma patients were enrolled, including 23 patients in the PTSD group and 68 patients in the non-PTSD group. Compared with the healthy control group, the NLR of 91 trauma patients on admission, on the 3rd and 7th day were significantly higher (all P< 0.01). The NLR of the PTSD group was increased on the 7th day after trauma, which was significantly higher than that of the non-PTSD group ( P= 0.025). The non-PTSD group showed a decreasing trend, of which NLR on the 7th day was significantly lower than that on admission ( P= 0.001). In addition, high level of NLR on the 7th day after trauma (β= 0.206, P= 0.01) was a risk factor for PTSD onset. Conclusions:Dynamic monitoring of the changes in NLR after acute trauma would be of great clinical value to early warning of PTSD.

OBJECTIVEUsing molecular epidemiology methods to investigate relationship between genotypes and drug-resistance of neisseria (N.) gonorrhoeae in Shanghai area.

METHODSA random amplified polymorphic DNA (RAPD) fingerprint method at the molecular level was used to differentiate the strains which were isolated from the outpatients of sexually transmitted disease clinics. The sensitivity to antibiotic of the 78 N. gonorrhoeae strains on 9 different antibiotics was tested and the relationship between different genotypes and phenotypes was studied.

RESULTSSelected RAPD primer could give out a group of amplification polymerase chain reaction bands with some main segments common to all the N. gonorrhoeae strains tested and some segments were different among the N. gonorrhoeae strains. All the 78 N. gonorrhoeae strains could be classified as three different groups (I, II and III). The strains could also be distinguished as four types (A, B, C and D) according to drug-resistance status. Using correspondence analysis method, the relationship between the three genotypes and four resistance types could be identified.

CONCLUSIONRAPD fingerprint seemed a useful genotyping method and could be used for molecular epidemiological studies.

Adolescent ; Adult ; Anti-Bacterial Agents ; pharmacology ; China ; epidemiology ; DNA Fingerprinting ; DNA, Bacterial ; genetics ; Drug Resistance, Bacterial ; Female ; Genotype ; Gonorrhea ; epidemiology ; microbiology ; Humans ; Male ; Microbial Sensitivity Tests ; Middle Aged ; Molecular Epidemiology ; Neisseria gonorrhoeae ; classification ; drug effects ; genetics ; Random Amplified Polymorphic DNA Technique

Bodily Secretions ; virology ; Humans ; Pharynx ; virology ; Pneumonia ; diagnosis ; virology ; Respiratory System ; virology

OBJECTIVETo investigate the polymorphism of FcgammaRIIIb genotype, IgG G2m(23) factor and their associations with the susceptibility to aggressive periodontitis.

METHODSDNA of white blood cells and serum from 21 aggressive periodontitis patients and 26 healthy controls was extracted. Genotype of FcgammaRIIIb and phenotype of G2m(23) factor was determined by allele-specific PCR and dot immunobinding assay respectively.

RESULTSThe frequency of FcgammaRIIIb-NA1/NA1 genotype in aggressive periodontitis patients was significantly higher than in healthy controls (P < 0.05). The ratio of subjects with FcgammaRIIIb-NA1/NA1 genotype and positive G2m(23) factor was higher in aggressive periodontitis patients (11/21) than in health controls (5/26) (P < 0.05). However, no statistical difference in distribution of G2m(23) factor alone was observed between patients and controls.

CONCLUSIONSThis study indicates that FcgammaRIIIb-NA1/NA1 genotype may be a susceptible genotype to aggressive periodontitis in Chinese population. Subjects with FcgammaRIIIb NA1/NA1 genotype and positive G2m(23) factor may be more susceptible to aggressive periodontitis.

Adult ; Antigens, CD ; genetics ; Asian Continental Ancestry Group ; genetics ; Female ; GPI-Linked Proteins ; Genetic Predisposition to Disease ; Genotype ; Humans ; Immunoglobulin Gm Allotypes ; genetics ; Male ; Periodontitis ; genetics ; Receptors, IgG ; genetics

OBJECTIVETo set up random amplified polymorphic DNAs (RAPD) method in genotyping Neisseria gonorrhoeae on DNA level, and to explore its use to trace the source of infection.

METHODSFour different pretreatments were used to extract the Neisseria gonorrhoeae genomic DNA with its advantages and disadvantages compared. Arbitrary sequence was then used to amplify the genomic DNA of Neisseria gonorrhoeae and RAPD fingerprint maps was applied to distinct the Neisseria gonorrhoeae strains. Finally, RAPD fingerprint of Neisseria gonorrhoeae strain between patient and his/her sexual partner was compared.

RESULTSCetyltrimethylammonium bromide method was classical in extracting genomic DNA, and could get integrated genomic DNA and good fingerprint maps, since main segments were common to all the Neisseria gonorrhoeae but some were different among strains so that the fingerprint of different Neisseria gonorrhoeae were distinctive. However, fingerprint maps of Neisseria gonorrhoeae collected from sex partners were quite similar.

CONCLUSIONBased on genomic levels, effective fingerprint maps could be identified and to classify the Neisseria gonorrhoeae into different genotypes. RAPD fingerprint maps could be used to trace the source of infection.

DNA Fingerprinting ; DNA, Bacterial ; analysis ; Genotype ; Humans ; Neisseria gonorrhoeae ; classification ; genetics ; Random Amplified Polymorphic DNA Technique

OBJECTIVETo observe the status of AKT and phospho-AKT (pAKT) in three diffuse large B cell lymphoma (DLBCL) cell lines, and to investigate the effects of AKT activation on biologic behavior of DLBCL cells.

METHODSThree DLBCL cell lines, ly1, ly8 and ly10 were maintained in 10% FBS or serum free culture medium. The expression of AKT and status of pAKT were detected by Western blotting. LY294002, an inhibitor of PI3K, was used to suppress the level of pAKT. Flow cytometry combined with PI staining, AnnexinV-FITC assay and Brdu incorporation assay were used to analyze the parameters of the cell cycle, apoptosis and proliferation respectively.

RESULTSThere was constitutive activation of AKT in three DLBCL cell lines and the levels of pAKT were altered in the different environments. In 10% FBS culture medium, pAKT was higher than that in serum free culture medium in ly8 and ly10, however, pAKT in ly1 maintained in serum free culture medium was mildly higher than that in 10% FBS culture medium. When the cell lines ly1, ly8, ly10 were maintained in 10% FBS culture medium, the inhibitor LY294002 suppressed the level of pAKT efficiently in three DLBCL cell lines. The percentage of cells at S phase and the proliferation index were significantly decreased (P < 0.05) without an increase of apoptosis (P > 0.05).

CONCLUSIONSActivation of AKT may play an important role in the development of DLBCL. It is closely related to the control of cell cycle and proliferation, but is not associated with apoptosis. LY294002 can inhibit cell growth by decreasing the levels of pAKT in DLBCL cell lines.

Apoptosis ; Cell Cycle ; drug effects ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Chromones ; pharmacology ; Culture Media, Serum-Free ; Enzyme Activation ; Humans ; Lymphoma, Large B-Cell, Diffuse ; metabolism ; pathology ; Morpholines ; pharmacology ; Phosphatidylinositol 3-Kinases ; antagonists & inhibitors ; Phosphorylation ; drug effects ; Proto-Oncogene Proteins c-akt ; metabolism

Experimental autoimmune thyroiditis (EAT) animal model was established in female SD rats fed with high iodine diet.The concentrations of FT_3 and FT_4 were increasing in order of normal control group, iodine excess control group,EAT control group and EAT iodine excess group (Pl＜0.05 or P＜0.01).Semi- quantitative RT-PCR and Western-blotting results showed that the expression of TNF-related apoptosis-inducing ligand (TRAIL) existed in thyrocytes of each group,while the expression was increasing in order of normal control group,iodine excess control group,EAT control group and EAT iodine excess group (P＜0.01).The results suggested that high iodine diet might induce thyrocytes' apoptosis by increasing the expression of TRAIL and hence influencing functional and pathologic changes of thyroid grand.