Objective　Genetic analysis was performed on a female child with chromosome Xq28 heterozygous deletion and suspected X-linked recessive disease to determine the morbidity and prognosis. Methods　A female child was admitted to the hospital on day 20 because of "jaundice for 20 days and difficulty in stopping bleeding at acupuncture sites". Low depth whole genome test of amniocentesis in late pregnancy suggested missing copy number of hemophilia A and X-linked mental retardation type 72. In order to further confirm the diagnosis and prognosis, peripheral blood of the children and their parents were collected for gene testing, chromosome inactivation test and genetic analysis. Results　Chromosome Xq28 of the child had 439.4 kb copy number heterozygous deletion variation, which was a clear disease-coding gene for functional loss included in ClinGen database. Chromosome inactivation test showed that the paternal X chromosome of the child was extremely inactivated. Haplotype analysis suggested that the normal chromosome of the subject was inherited from the mother, and there was heterozygous deletion on the paternal X chromosome, so it was inferred that the child will not develop disease or just have mild symptoms. Conclusion　It is necessary to analyze the X chromosome inactivation test for female patients with the pathogenic variation of X-linked recessive genetic disease to determine the possibility of the disease.

Objective To observe the effect of transforming growth factor β1 (TGF-β1) on thyroid peroxidase activity and the expression of mRNA in primary porcine thyrocytes, and approach its possible mechanism. Methods In vitro cultured porcine thyrocytes were divided into 0 μg/L(control group), 2, 5, and 10 μg TGF-β1/L groups.After cultured for 72 h, the cell survival rate was measured with methyl thiazolyl tetrazolium (MTT) assay and the thyroid peroxidase (TPO) activity was measured by guaiacol method. The expression of TPO mRNA was determined cell survival rates of 2, 5, 10 μg/L groups(85.26%, 75.14% and 63.21%) were significantly lower(all P < 0.05 ).significantly decreased as compared with the control group [(2.143 ± 0.102), all P < 0.05)], and the TPO of TGF-β1, the lower the expression of TPO mRNA [(0.875 ± 0.078), (0.466 ± 0.044), (0.273 ± 0.007)] compared with the control group[(1.419 ± 0.148), all P < 0.05)]. Conclusions The inhibiting effect of TGF-β1 on primary cultured porcine thyrocytes may be related to its mechanism of inhibiting TPO activity and reduced mRNA expression.

ObjectiveTo observe the effect of long-term fluoride excess on rat thyroid morphology,thyroid peroxidase(TPO) activity and the expression of TPO protein,and to explore its possible mechanism of action.MethodsForty male SD rats were randomly divided into four groups by weight:control group,low-fluoride group,moderate-fluoride group and high-fluoride group(n =10),and they were fed with ordinary tap water containing fluorine 0.40,15.00,30.00,60.00 mg/L,respectively,and ate ordinary food prepared feed.After fed for 180 days,rats were anesthetized,and thyroid was taken.The morphology of thyroid was observed under light microscope.TPO activity was measured with improved guaiacol method.The expression of TPO protein was evaluated by Western blotting.ResultsThe thyroid histopathology results show:in control group,the thyroid follicular epithelial cells were columnar or cuboidal,with the follicular cavity filled with pink gum; in low-fluoride group,the thyroid follicular epithelial cell presented active hyperplasia; in moderate-fluoride group,the size of follicular increased,and follicular cavity was filled with dark,sticky colloid follicular; follicular increases,follicular cavity filled with dark,sticky colloid follicular; in high-fluoride group,the follicular epithelial cells showed apparent flat shape and excessive concentration of follicular colloid,a small amount of follicular lumen even showed the phenomenon of fusion,forming a giant follicular or cystic cavity.Among the four groups of control group,low-fluoride group,moderate-fluoride group and high-fluoride group,with increased fluoride,TPO activity [ ( 1.572 ± 0.046), ( 1.414 ± 0.086), (1.322 ± 0.049), (0.960 ± 0.083)U/L] decreased,and the differences were statistically significant between the two groups(all P ＜ 0.05).With increased fluoride,the expression of TPO protein (0.335 ± 0.011,0.156 ± 0.027,0.084 ± 0.020,0.045 ± 0.002) decreased,and the differences were statistically significant between the two groups(all P ＜ 0.05).Conclusioons Long-term intake of excessive fluoride can inhibit the thyroid TPO activity and the expressions of TPO as well as thyroid hormone synthesis,and leads to histological changes in rat thyroid.

Objective To study the effect of long-term fluoride excess on the activity of thyroid peroxidase (TPO) and the expression of TPO mRNA in rat thyroid,and explore the underlying mechanism.Methods Forty male SD rats were randomly divided into four groups based on their body mass(n =10 in each group):control group,low-fluoride group,moderate-fluoride group and high-fluoride group,and rats were fed on water containing 0.40(tap water),15.00,30.00 and 60.00 mg/L NaF,respectively,eating ordinary food formulated feed.All rats were sacrificed 180 days afterwards.Serum FT3 and FT4,TPO activity and mRNA expression level were determined by radio-immunoassay,modificd guaiacol method and semi-quantitative RT-PCR,respectively.Results Although serum FT3 levels in low-fluoride [(3.62 ± 0.47)pmol/L],moderate-fluoride [(3.57 ± 0.55)pmoi/L]and high-fluoride [(3.30 ± 0.68)pmol/L]treated groups were decreased compared with the control[(3.64 ± 0.45)pmol/L],the difference was not statistically significant (P ＞ 0.05).Serum T4 levels of the high-fluoride group [(8.64 ± 1.72)pmol/L]were significantly lower compared with other groups[(13.08 ± 1.69),(12.68 ± 1.32),(12.05 ± 1.43)pmol/L,all P ＜ 0.05].TPO activity in control,low-fluoride,moderate-fluoride and high-fluoride-treated groups[(1.572 ± 0.064),(1.414 ± 0.086),(1.322 ± 0.049),(0.960 ± 0.083)U/L]was decreased with the dose of fluoride increasing,the difference was statistically significant between any two groups(all P ＜ 0.05).The TPO activity was negatively correlated with the dose of fluoride(r =-0.955,P ＜ 0.05).With increased fluoride,the expression of TPO mRNA (0.936 ± 0.160,0.368 ± 0.095,0.115 ± 0.018,0.016 ± 0.008) decreased,the difference was statistically significant between any two groups (all P ＜ 0.05).Conclusion Chronic fluoride excess inhibits the activity and the expression of TPO as well as thyroid hormone synthesis.

Objective To study the different curative effect between r-tPA application and urokinase in the interventional therapy for acute and severe pulmonary embolism.Methods Analyzed the clinical date of 22 cases acute and severe pulmonary embolism patients,and classified them into two groups according to the application of r-tPA and urokinase to compare the changes of their blood pressure,heart rate,arterial partial pressure of oxygen,hemachrome and pulmonary arterial pressure before and after therapy,meanwhile,record the thrombolysis time that the two groups took.Results The thrombolysis effect time adopting urokinase was remarkably longer than that thrombolysis adopting r-tPA(P<0.05); The blood pressure,heart rate,arterial partial pressure of oxygen of the two groups gained remarkable improvement after therapy(P<0.05).The pulmonary arterial pressure of the urokinase group dropped obviously after operation(P<0.05),while the r-tPA group dropped not so significantly after operation.The hemachrome of the two groups did not dropped significantly after operation.Conclusion The r-tPA and urokinase are both effective to interventional therapy for acute and severe pulmonary embolism,while r-tPA can clearly shorten the time in thrombolysis and could reduce any bleeding risk.

Microbes are important composition of ecology system. Nowadays it's very important to study the microbial diversity and community structure, especially in water bioremediation by microbiological resources. Modern molecular biology techniques provide effective methods to study the microbial ecosystem in aqua. Several techniques were summarized, including 16S rDNA clone library, DGGE (Denaturing gradient gel electrophoresis), RFLP (Restriction Fragment Length Polymorphism) and T-RFLP (Terminal Restriction Fragment Length Polymorphism), while their application to analyze water microbial diversity were introduced.

Objective To study the relationship between serum salusin-α and lipoprotein associated phospholipase A2(Lp-PLA2) in carotid unstable plaque with cerebral infarction. Methods One hundred patients with carotid unstable plaque confirmed by carotid ultrasound, divided into two groups as follows:cerebral infarction group (CI group, n = 50) or without cerebral infarction (plaque group, n = 50). We took 50 health subjects in the same period as control. The levels of serum salusin-α, Lp-PLA2 were detected by ELISA. Results Serum salusin-αlevel was significantly lower in the CI group than in the control group (P<0.01), and was also significantly lower in the CI group than in the plaque group (P < 0.01); Serum Lp-PLA2 level was obviously higher in CI group than in control group (P<0.05), and was also significantly higher in CI group than in plaque group (P < 0.05); The correlation between serum salusin-α level(OR = 0.140, 95% CI: 0.054-0.368, P<0.01) and cerebral infarction was significant in patients with unstable plaque. Conclusions The decrease of serum salusin-α level is significantly in patients with unstable plaque; the increase of Lp-PLA2 is significantly in patients with unstable plaque. The serum salusin-αlevel is a possible risk factor for cerebral infarction.

Synovial sarcoma is a rare tumour found in soft tissue; it is a mesenchymal spindle cell tumour that is not related to the synovial membrane. This tumour has a low incidence, and the most frequent place of occurrence is the lower extremities in young adults. Synovial sarcoma of the head and neck accounts for 3%-5% of sarcomas in this anatomical region. The tumor in the nasal cavity is less than 1%. The treatment of choice for synovial sarcoma of the head and neck is complete surgical excision of the tumour mass followed by adjuvant radiotherapy.
Humans ; Nasal Cavity ; pathology ; Nose Neoplasms ; diagnosis ; radiotherapy ; surgery ; Paranasal Sinuses ; pathology ; Radiotherapy, Adjuvant ; Sarcoma, Synovial ; diagnosis ; radiotherapy ; surgery

Hemoglobinuria, Paroxysmal ; metabolism ; Humans ; Membrane Proteins ; biosynthesis