To discuss clinicopathological features and molecular genetic change of congenital mesoblastic nephroma (CMN).Methods Nine cases diagnosed as CMN were analyzed retrospectively in this study.Histological features,immunohistochemical profiles and ETV6 gene rearrangement status were assessed.Results All patients were within two years of age and eight of them were within one year.The average diameter of tumors was 9.5 cm (3.2-15.0 cm).These series cases included 3 classic CMN,5 cellular CMN and 1 mixed CMN.Cystic degeneration was found in 5 cases,and cartilage islands were observed in 2 cases.Compared with classic CMN,tumor size was bigger,and hemorrhage,necrosis and mitotic figures were easily to see in cellular CMN.All the tumor cells were positive for vimentin and negative for WT-1 by immunohistochemistry.ETV6 gene rearrangement was detected in 5 cases (including 4 cellular CMN and 1 classic CMN).Three cellular CMN harbored ETV6 gene translocation,1 mixed CMN and 1 cellular CMN were negative for ETV6 gene translocation by FISH analysis.The follow up data were obtained in 7 cases and 2 cases were lost.All the 7 patients were alive without evidence of recurrence and metastasis from 5 to 46 months.Conclusion CMN is a rare infant renal tumor with unique clinicopathological characteristics.Most of cellular CMNs harbor ETV6 gene translocation.The prognosis of CMN is relative good and needs to be differentiated from other malignant renal tumors.

Objective:To assess the effects of direct moxibustion on 24-hour ambulatory blood pressure (ABP) and clinical symptoms of traditional Chinese medicine (TCM) in elderly patients with essential hypertension, and to explore the antihypertensive effect and influencing factors of moxibustion. Methods:A total of 101 elderly hypertension patients who met the inclusion criteria were randomly assigned to a direct moxibustion I group (n=33), a direct moxibustion II group (n=34), and a control group (n=34). The treatment of calcium antagonist (CCB) orangiotensin II receptor antagonist (ARB) was adopted in the control group. The treatment of direct moxibustion I plus the same medicine as the control group were adopted in the direct moxibustion I group, five cones per acupoint and three times per week, for 5 weeks in total. The treatment of direct moxibustion II plus the same medicine as the control groupwere adopted in the direct moxibustion II group, five cones per acupoint and three times per week, for 5 weeks in total. The changes of 24-hour ABP and clinical symptoms of TCM after treatment were compared in the three groups. Results: The mean 24-hour ambulatory systolic blood pressure (mean 24 h ASBP), night ASBP, percentage of mean 24-hour ambulatory diastolic blood pressure (mean 24 h ADBP)>90 mmHg, and percentage of day ADBP>90 mmHg in the control group were elevated after treatment (P<0.05). The percentage of night ADBP>80 mmHg in the direct moxibustion I group was reduced by treatment (P<0.01). There were no significant differences in the other outcome measures of 24 h ABP, such as day ASBP, percentage of mean 24 h ASBP>140 mmHg, percentage of day ASBP>140 mmHg, percentage of night ASBP>120 mmHg , mean 24 h ADBP, day ADBP, night ADBP, 24 h ambulatory pulse pressure (APP), after treatment in all groups (P>0.05). The degree of improvement of the clinical symptoms of TCM showed significant differences among the three groups of patients (P<0.01). The total effective rate in the direct moxibustion I group was 73.3%, which was superior to those in the direct moxibustion II group and control group (13.3% and 10.0%, respectively). Conclusion:The direct moxibustion has benign regulative effect on blood pressure of elderly patients with essential hypertension, and improves their clinical symptoms. The direct moxibustion method I (burning the next moxa cone after the previous one had totally burnt out) was superior to method II (burning the next moxa cone when the previous one had not totally burnt out ) in lowering blood pressure and improving symptoms of elderly patients with essential hypertension.

0.05),but the former was statistically higher than the latter from 2003-2005. Conclusions There is no obvious variation of the schistosome epidemicity at Jiangxin after resettlement but remaining arable land, while the epidemicity of Jiangzhou, after resettlement and converting cultivated land to forest or grassland, declines in some degree.

Objective To investigate the expression features and clinical significance of CD4+ CD25+ regulatory T cells in elderly patients with newly diagnosed acute myelocytic leukemia.Methods Totally 65 patients newly diagnosed as acute myeloid leukemia (AML group) and 72 healthy volunteers (control group) were divided into the elderly group (aged over 60 years) and the young group aged (44.6±2.9) years.The expression of CD4+ CD25+ regulatory T cells was detected by CD4,CD25 and CD127 three-color fluorescein-labeled and multiparameter flow cytometry.The expression features and clinical significance of CD4+ CD25+ regulatory T cells in each group were analyzed.Results After being gated on CD4+ lymphocytes,the expression level of CD4+ CD25+regulatory T cells was significantly increased in AML group as compared to control group [(7.06±2.60) ％ vs.(5.61 ± 1.06) ％,t =4.19,P=0.000].The expression level of CD4 + CD25 + regulatory T cells was higher in elderly AML patients than in elderly controls [(7.55 ± 2.78)％ vs.(5.98 ±1.08) ％,t=3.42,P=0.001].The expression of CD4+ CD25+ regulatory T cells was higher in young AML patients than in young controls [(6.09±1.91)％ vs.(5.14±0.82)％,t=2.21,P=0.036].The expression level of CD4+ CD25+ regulatory T cells was higher in elderly AML patients than in young AML patients [(7.55±2.78)％ vs.(6.09±1.91)％,t=2.19,P=0.032].Conclusions The dual roles of immunosenescence and tumor may cause the excessive accumulation of CD4+ CD25+regulatory T cells in elderly patients with newly diagnosed acute myeloid leukemia.

OBJECTIVETo evaluate the predictive accuracy of the SurgiCase CMF software in surgical simulation and prediction for mandibular asymmetry with 3-dimensional simulation and measurement.

METHODSCBCT data of 27 patients with mandibular asymmetry were observed in CMF, and postoperative soft tissue physiognomy were predicted by simulating sagittal ramus osteotomy with or without genioplasty. The measurement parameters representing the symmetry of soft tissue were selected and the horizontal, coronal and sagittal planes were established. The results were analyzed by SPSS 19. 0. The overlap compared color grading charts were observed.

RESULTSAngles between cheilions and the horizonta plane (Ch-Ch-FH) in the simulation and postoperative soft tissues are (2. 35 ± 1. 81)° and (1. 44 ± 1. 13)°. The angles constructed among subnasale, upper lip and lower lip (Sn-UL-LL) are (4. 02 ± 3. 05)° and (2. 59 ± 1. 64)°, showing statistically different (P < 0. 01, P < 0. 05), which means that predictive accuracy of the lip canting and lip vertical deviation is relatively low. Distance between gonioi and sagittal plane (Go'-MS), distance between gonion and pogonion (Go'-Pog') and angle betweer subnasale to menton and the horizontal plane (Sn-Me'-MS) are not statistically different, which mean! high predictive accuracy of mandibular angle and chin. By observing the overlap compared color gradin-) charts, the predictive accuracy is not good in the cheek, especially in the deviate side.

CONCLUSIONSThe predictive accuracy of CMF system for patients with mandibular asymmetry is relatively high, but it is not good in the lip and cheek. The software improvement is still necessary.

Cephalometry ; methods ; Chin ; anatomy & histology ; Cone-Beam Computed Tomography ; methods ; Face ; Humans ; Lip ; anatomy & histology ; Mandible ; abnormalities ; surgery ; Osteotomy ; methods ; Software ; Surgery, Computer-Assisted ; methods

Objective:To explore the effects of long noncoding RNA (lncRNA) actinfilament-associated protein 1-antisense RNA1 (AFAP1-AS1) on proliferation and invasion of thyroid cancer cells and its mechanisms.Methods:Quantitative real time fluorescence PCR (qRT-PCR) was performed to assess the expression of AFAP1-AS1 in normal thyroid cells and thyroid cancer cells. The thyroid cancer cell line WRO was divided into three groups, AFAP1-AS1 silencing group (AFAP1-AS1-siRNA group), negative control group (NT-siRNA group) and blank control group (Blank group). AFAP1-AS1-siRNA group and NT-siRNA group were transfected with AFAP1-AS1 siRNA and NT-siRNA respectively using Lipofectamine? 3000, and Blank group was treated with PBST. The proliferation ability was measured by CCK-8. The invasion ability was measured by Transwell assay. The expression levels of Rho A, Cyclin D1 and MMP-9 protein were measured by Western blotting.Results:The relative expressions of AFAP1-AS1 in normal thyroid cell line FRTL-5, thyroid cancer cell lines SW579, CAL-62, FRO and WRO were 1.03±0.04, 2.95±0.17, 5.31±0.35, 7.26±0.49 and 9.67±0.53 respectively, and the difference among the five groups was statistically significant ( F=16.932, P=0.027). The expression of AFAP1-AS1 was highest in WRO cells, therefore, the WRO cells were selected for subsequent experiments. The relative expressions of AFAP1-AS1 in AFAP1-AS1-siRNA group, NT-siRNA group and Blank group were 0.23±0.02, 1.02±0.04 and 1.03±0.05 respectively, and the difference among the three groups was statistically significant ( F=13.590, P=0.006). Compared with NT-siRNA group, the expression of AFAP1-AS1 in AFAP1-AS1-siRNA group was significantly lower ( P<0.001). The A450 values in the three groups were 0.68±0.06, 1.17±0.09, 1.22±0.09, and 0.96±0.08, 1.69±0.11, 1.72±0.12 respectively 3 and 4 days after transfection, and the differences were statistically significant ( F=7.318, P=0.016; F=10.351, P=0.004). The differences between AFAP1-AS1-siRNA group and NT-siRNA group 3 and 4 days after transfection were statistically significant ( P=0.043; P=0.013). The numbers of invasive cells in the three groups were 72.8±5.7, 145.6±8.9, 148.4±7.3, and the difference was statistically significant ( F=37.273, P=0.034). The number of invasive cells in AFAP1-AS1-siRNA group was significantly less than that in NT-siRNA group ( P=0.021). The expressions of Rho A protein in the three groups were 0.34±0.03, 1.02±0.04 and 1.04±0.03 respectively, and the difference was statistically significant ( F=9.667, P=0.013). The expression of Rho A protein in AFAP1-AS1-siRNA group was significantly lower than that in NT-siRNA group ( P=0.018). The expressions of Cyclin D1 protein in the three groups were 0.52±0.04, 1.03±0.02 and 1.05±0.04 respectively, with a statistically significant difference ( F=15.464, P=0.010). The expression of Cyclin D1 in AFAP1-AS1-siRNA group was significantly lower than that in NT-siRNA group ( P=0.023). The expressions of MMP-9 protein in the three groups were 0.42±0.04, 1.05±0.03 and 1.02±0.04 respectively, and the difference was statistically significant ( F=10.328, P=0.032). The expression of MMP-9 in AFAP1-AS1-siRNA group was significantly lower than that in NT-siRNA group ( P=0.035). Conclusion:The silencing of lncRNA AFAP1-AS1 can inhibit the proliferation and invasion of thyroid cancer cells, and the mechanism may be related to the down-regulation of Rho A, Cyclin D1 and MMP-9 proteins.

Objective To detect the change of the anti-S. japonicum antibody level after people migrated from outside embankment to newly established town. Methods Three pilot spots were established for the investigation: one spot thut both inhabitancy and cultivation disused (A), one spot that only inhabitancy disused but farming continued (B) and the third one served as control (C). DIGFA and ELISA were used to detect the antibody level in the populations from 2002 to 2005. Results The positive rate of anti-S.japonkum antibody declined significantly from 6.63% to 3.52% by DIGFA and from 7.26% to 3.71% by ELISA at spot A (X2=5.2625, P

According to the requirement of the national assessment for achieving the infection control criteria, 42 villages (among them,25 villages belonged to the first stratum, and 17 villages belonged to the second stratum) in 14 counties from 5 provinces, including Hunnan, Hubei, Jiangxi, Anhui and Yunnan, were selected as sampling villages for the assessment.The results from the field assessment showed that 154 out of 9 067 people were found infected with Sckistosoma japonicum, with an average infection rate of 1.7% ranged from 0.31 % to 4.10% , and only Yongping Village from Weishan County and Tenglong Village from Eryuan County were not found any case. A total of 46 out of 3 323 head of cattle were infected with S. japonicum, with an average infection rate of 1.38% ranged from 0.26% to 3.79% , and no any infected individual detected in Nanling County. No outbreak occurred in those sampling villages. Therefore, it is indicated that the five sampling provinces have reached the national criteria on infection control of schistosomiasis.

Objective: To investigate the status and prognostic significance of TERT and IDH1/2 genes mutations in diffusely infiltrating gliomas. Methods: Hot spot mutations of TERT and IDH1/2 genes were detected by DNA sequencing in 236 cases of gliomas at West China Hospital from 2012 to 2016, including pilocytic astrocytoma (WHO grade Ⅰ, 16 cases), diffuse astrocytoma and oligodendroglioma (WHO grade Ⅱ, 89 cases), anaplastic astrocytoma and oligodendroglioma (WHO grade Ⅲ, 72 cases) and glioblastoma (WHO grade Ⅳ, 59 cases). The prognostic significance of TERT and IDH1/2 hot spot mutations was evaluated. Results: No IDH or TERT mutations were detected in pilocytic gliomas. TERT promoter mutation frequency was higher in patients aged ≥40 years(60.8%, 93/153) than in patients aged <40 years (32.8%, 22/67; P<0.01). TERT promoter mutation rate was also significantly higher in oligodendroglioma (87.5% , 56/64) than that in astrocytoma(37.8%, 59/156; P<0.01). Young age (<40 years), oligodendroglioma and IDH1 mutation were favorable prognostic factors for diffusely infiltrating astrocytic and oligodendroglial tumors. TERT mutation alone was not of prognostic significance. Diffusely infiltrating astrocytic and oligodendroglial tumors were divided into four molecular subtypes according to TERT and IDH1 mutation status: IDH(+ )/TERT(+ ), IDH(+ )/TERT(-), IDH(-)/TERT(-) and IDH(-)/TERT(+ ). There was significant prognostic difference among the 4 subtypes. Conclusions Combined IDH and TERT gene mutation analysis may be useful for prognostic subgrouping. Notably, IDH1 wild-type cases can be further subdivided into TERT(+ ) or (-) subgroups with significant prognostic difference.

OBJECTIVETo detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis.

METHODSTarget sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation.

RESULTSThe proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus. X-ray revealed generalized increased bone density. A novel compound heterozygous mutation, c.796G to T (p.E266X) and c.1372G to A (p.G458S), were identified in the boy. His father and grandmother also carried the c.796G to T (p.E266X) mutation, and his mother carried the c.1372G to A (p.G458S) mutation. Neither mutation was found in the PubMed and ClinVar databases.

CONCLUSIONThe novel compound heterozygous mutation c.796G to T (p.E266X) and c.1372G to A (p.G458S) probably underlies the disease in the proband. Above results may enrich the mutation spectrum of the TCIRG1 gene and provide new evidence for the molecular basis of infantile malignant osteopetrosis.

Adult ; Asian Continental Ancestry Group ; Base Sequence ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; genetics ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Osteopetrosis ; genetics ; Pedigree ; Vacuolar Proton-Translocating ATPases ; genetics