Objective:To explore the cytogenetic characteristics of hypospadias in children by karyotype analysis.Methods:From June 2008 to May 2018, 45 children with hypospadias in Tianjin Children's Hospital had cytogenetic abnormalities. Their median age was 10 months(range 3 hours to 5 years old). Of the 45 cases, 20 were proximal hypospadias, 1 was middle hypospadias. All 24 cases had varying degrees of genitourinary malformations. Among them, 15 cases had unilateral or bilateral cryptorchidism, 5 cases had scrotal division, 3 cases had penile scrotal transposition, 3 cases had small penis, 3 cases had indirect inguinal hernia, 1 case had repeated urethra, 1 case had hydrocele and 1 case had concealed penis. To the other systemic malformations, there was 1 with cleft lip and palate and 1 with congenital heart disease. G-banding karyotype analysis of peripheral blood lymphocytes was performed in all 45 cases.Results:Among the 45 cases of hypospadias with abnormal karyotypes, with an abnormal rate of 14.0%, 28 cases (62.22%) had sex chromosome abnormalities, including (47, XXY), (46, XX/47, XXY), (45, X0/47, XYY), etc. Sexual inversion occurred in 8 cases (17.78%), all of which were 46, XX. There were 4 autosomal abnormalities (8.89%), including (46, XY, 9p+ ), (46, XY, 10p+ ) and (46, XY, 1q+ ). Chromosome polymorphism was found in 4 cases (8.89%), including [46, XY, inv(9)] and [46, XY, 16qh+ ], and the equilibrium translocation of 1 case (2.22%) was [45, XY, -21, -22, + t(21; 22)]. Among the 45 cases, 8 sex reversal children with (46, XX) chromosome karyotype were all proximal hypospadias.Conclusions:Children with hypospadias may be associated with chromosomal karyotype abnormalities, including sex chromosomal abnormalities, autosomal abnormalities, chromosome polymorphism and balanced translocation. Among them, sex chromosome abnormality was the most common and balanced translocation was the least.

OBJECTIVE: To investigate the biological properties of Caski cell lines induced by exposing to the space environment. METHODS: Caski cells were carried in "Shen Zhou IV" airship. After 7 days of spaceflight, cells survived and were monocoloned, and the experimental methods such as cell morphological observation, the cell proliferation assay, flow cytometry cell cycle analysis, the soft agar assay, and tumorigenesis assay were used to analyze cell growth characteristics and malignant phenotypes. RESULTS: Altogether 1440 strains subclonal cell lines were established and 4 strains were screened. Compared with the control group, mutated cells appeared to have multiple cell morphological changes. Strains numbered 44F10 and 17E3 were screened due to their increased cell proliferation and tumorigenesis, and their cell cycles were induced to progress from G(1) to S phase, while strains 48A9 and 31F2 were opposite to 44F10 and 17E3 in cytological events. The average population double time of ground nomal control group, ground simulant control group, strains numbered 44F10, 17E3, 48A9 and 31F2 groups were 56.54, 58.44, 52.96, 51.46, 101.76 and 88.47h, respectively; compared with the control group, the average double time of strains numbered 44F10 and 17E3 was decline, but with no statistical significance. However, compared with the control groups, the average double time of 48A9 and 31F2 was significant increased (P<0.05). The colony formation rates were 9.7%, 9.3%, 14.7%, 12.1%, 0 and 0.1%, respectively, and the difference between the ground control groups and the other groups was significant (P<0.01); 6 groups of above-mentioned Caski cells were inoculated subcutaneously in Babl/c nude mice respectively. Forty-seven days later, the formed tumors in the nude mice were statistically analyzed and tested. The average weight of tumors of the above-mentioned groups was 0.066, 0.066, 0.175, 0.249, 0.011 and 0.018g. The difference between the ground control groups and other groups was significant (P<0.05). CONCLUSION Spaceflight may affect the physiological characteristics of tumor cells and the variation is complicated.
Animals ; Cell Cycle ; Cell Line, Tumor ; Cell Proliferation ; Female ; Humans ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Neoplasm Transplantation ; Neoplasms, Experimental ; pathology ; Space Flight ; Transplantation, Heterologous ; Uterine Cervical Neoplasms ; pathology ; Weightlessness

Although the basic principles for the function of peripheral auditory system have been known for many years, the molecular mechanisms which affect deafness are not clear. In recent years, the study of hereditary deafness associated mouse models has revealed the molecular basis which is related with the formation and function of the hair bundle and the mechanosensory organelle of hair cell. This review focused on the role of protein network, which is formed by the proteins encoded by the Usher syndrome type 1 genes, in hair-bundle development and mechanotransducer channel gating. And the review also showed how the stereocilia rootlets contribute to the hair bundle's mechanical properties and how the hair bundle produces suppressive masking. Finally, the review revealed multiple roles of the tectorial membrane and extracellular matrix in the hair bundles stimulating in the cochlea.
Animals ; Cochlea ; physiopathology ; Disease Models, Animal ; Extracellular Matrix ; physiology ; Hair Cells, Auditory ; pathology ; Hearing Loss, Sensorineural ; genetics ; Humans ; Mechanotransduction, Cellular ; Mice ; Usher Syndromes ; genetics

BACKGROUNDPercutaneous coronary intervention (PCI) is indicated for angina with coronary stenosis. However, PCI for asymptomatic coronary stenosis remains controversial. We prospectively followed a group of patients for four years who underwent coronary computed tomography angiography (CCTA) for major adverse cardiac events (MACE). We hypothesized that the results of this trial would reliably reflect the natural outcome of the coronary disease.

METHODSConsecutive patients who underwent CCTA from June 2008 to May 2009 were selected. Those who could not be reached by telephone, had significant angina, had CT images that were not interpretable, or poor kidney and left ventricular (LV) function were excluded. The patients were divided into five groups: group A normal CCTA without stenosis, group B mild stenosis (1% - 49%), group C moderate stenosis (50% - 74%), group D severe stenosis (= 75%) and they were treated with optimal medical therapy (OMT) or PCI. The group E had PCI before the CCTA examination. The patients were then followed for MACE after different treatments. MACE included acute myocardial infarction (MI), heart failure (HF) and death.

RESULTSThe patient population consisted of 419 patients. The follow-up time was (51 ± 5) months. The age was (60 ± 31) years. Male made up 67.78% of the population (n = 284). A total of 51 cases of MACE occurred including 25 MI, eight HF and 18 all-cause deaths. There was no MACE in group A. Although MACE occurred in two patients in group B, they were not attributed to cardiac death. We further compared the MACE in groups C-E and no significant difference was found (P > 0.05). However, a difference was detected among patients with unstable angina pectoris (UAP), stable angina pectoris (SAP), re-hospitalization, and cerebrovascular events from groups A-E (P < 0.05). The plaque scores were used to predict MACE. The scores progressively increased significantly with lesion severity (P < 0.05). Receiver operating curve (ROC) was performed to determine the sensitivity and specificity in predicting MACE. Our scores predicted MI with area of 0.76, predicted HF with area of 0.77, and predicted death with area of 0.70.

CONCLUSIONSNormal and mild lesions had very few events. With increased stenosis the MACE rate increased progressively. PCI did not significantly reduce the MACE in comparison with OMT in asymptomatic patients. Furthermore, UAP, re-hospitalization, and re-PCI were significantly increased in patients who were treated with PCI.

Adult ; Aged ; Aged, 80 and over ; Coronary Angiography ; Coronary Stenosis ; diagnostic imaging ; therapy ; Female ; Heart Failure ; diagnostic imaging ; Humans ; Male ; Middle Aged ; Myocardial Infarction ; diagnostic imaging ; Percutaneous Coronary Intervention ; Prospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome

The biological and genetic characteristics of a highly neurovirulent JE virus strain SA4 were studied. Mice were inoculated intracerebrally with strain SA4 and SA14, and observed for 14 days, respectively. On different days, mice brains were harvested for titrations of the virus content in the brains. Full-length genome of SA4 was sequenced and compared with SA14 as well as other JE virus strains in the world. The results indicated that the mice inoculated by SA4 induced sickness and death more rapidly (24 hours faster) than those induced by the SA14. The virus titers in the brains of mice infected with SA4 were 0.5-1.0 lg PFU/mL higher than that infected with SA14. The sequence comparison indicated that the nucleotide and amino acid homology between SA4 and the other 21 JE strains were 84.6%-99.0% and 95.2%-99.7% respectively. Comparison with strain SA14 revealed that there were 17 amino acid differences between the two strains, of which 5 were in the E protein region. The results demonstrate that strain SA4 is a highly neurovirulent strain. The substitutions of the 17 amino acids in the SA4 strain can be the molecular basis for the biological characteristics of high neurovirulence.
Animals ; Brain ; virology ; Encephalitis Virus, Japanese ; classification ; genetics ; isolation & purification ; pathogenicity ; Encephalitis, Japanese ; mortality ; virology ; Genotype ; Humans ; Mice ; Sequence Analysis ; Viral Envelope Proteins ; genetics ; Virulence

Tumor brings great threat to human public health. In recent years, incidence rate and mortality of tumor were rapidly increased in the world. Anti-tumor therapies have undergone the development of cytotoxic therapy, targeted therapy, and immunotherapy. Among them, tumor immunotherapy is rapidly developed and becomes an important anti-tumor therapy in recent years, although it also brings some related side effects. Tumor microenvironment (TME) is composed of immune cells, vascular vessels, fibroblasts, the extracellular matrix, etc. TME significantly affects the efficacy of immunotherapy. Macrophages in the TME are named as tumor associated macrophages (TAMs). Recently, increasing studies have shown that TAMs play an important role in the regulation of tumor immunity, especially in tumor immune surveillance and immune escape. Currently, more and more anti-tumor immunotherapy strategies targeting TAMs are at the development stage. Based on the important role of TAMs in the TME and their potential as therapeutic targets in tumor immunotherapy, we first reviewed the subtypes and functions of TAMs, as well as the roles of TAMs in tumors. Furthermore, we summarized the research progress on anti-tumor strategies targeting TAMs and the current status of drug targeting TAMs. The current review will provide new ideas and novel insights for tumor immunotherapy.

OBJECTIVETo assess the feasibility and accuracy of CT first-pass myocardial perfusion imaging (CT first-pass MPI) at rest for diagnosis of myocardial ischemia. Results of adenosine-induced myocardial perfusion scintigraphy (MPS) were used as gold standard.

METHODSTwenty-two patients with suspected or diagnosed coronary artery disease (CAD) were included and CT coronary angiography (CTCA) and MPS were performed within 2 weeks. CT first-pass MPI detected myocardial ischemia results through analyzing the raw date of CTCA were compared with MPS results.

RESULTSThe sensibility, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy of CT first-pass MPI at rest for detecting myocardial ischemia were 92% (12/13), 78% (7/9), 86% (12/14), 88% (7/8) and 86% (19/22), respectively.

CONCLUSIONCT first-pass MPI at rest could detect myocardial ischemia with an accuracy similar to that of MPS.

Adult ; Aged ; Aged, 80 and over ; Coronary Angiography ; methods ; Feasibility Studies ; Female ; Humans ; Male ; Middle Aged ; Myocardial Ischemia ; diagnostic imaging ; Predictive Value of Tests ; Sensitivity and Specificity ; Tomography, X-Ray Computed ; methods

OBJECTIVETo assess the feasibility and accuracy of CT coronary angiography (CTCA) combined with adenosine stress myocardial perfusion scintigraphy (MPS) for diagnosis of flow-limiting coronary stenosis.

METHODSA total of 105 patients with suspected or established coronary artery disease (CAD) underwent CTCA and MPS within 4 weeks before invasive coronary angiography. The accuracy of CTCA/MPS in the diagnosis of flow-limiting coronary stenosis was evaluated in comparison with the results of quantitative coronary angiography and MPS.

RESULTSThe sensitivity, specificity, positive predictive value and negative predictive value of CTCA/MPS as a combined approach for detection of flow-limiting coronary stenosis were all 100%. In 16% (9/55) of the patients, revascularization procedures were performed and no flow-limiting stenosis was found.

CONCLUSIONCombination of CTCA and MPS has an excellent accuracy for detecting flow-limiting coronary stenosis as compared with quantitative coronary angiography/MPI, and can be a useful gatekeeper for revascularization procedures.

Adenosine ; Aged ; Coronary Angiography ; methods ; Coronary Stenosis ; diagnosis ; diagnostic imaging ; Female ; Humans ; Male ; Middle Aged ; Myocardial Perfusion Imaging ; methods ; Tomography, Emission-Computed, Single-Photon ; methods ; Tomography, X-Ray Computed

OBJECTIVETo determine if multi-detector CT (MDCT) characterization of plaque is correlated with the classification of acute coronary syndrome (ACS).

METHODSAltogether 1900 patients were examined by MDCT from December 2007 to May 2009, of whom 95 patients fulfilled the criteria of ACS. Those patients were divided into the discrete plaque group ( n=61) and diffuse plaque group ( n=34) based on the findings in MDCT. The clinical diagnosis of ACS and CT results were analyzed, including segment stenosis score, segment involvement score, 3-vessel plaque score, left main score, calcification score, and remodeling index. The incidences of major adverse cardiac events in follow-up period were also recorded.

RESULTSThe patients of the diffuse plaque group were older than those of the discrete plaque group ( Pü0.0001). The diffuse plaque group presented more cases of hypertension, peripheral artery disease, diabetes, and heart failure than discrete plaque group (all P<0.05). All the 5 patients with ST-segment elevation myocardial infarction were found in discrete plaque group. The segment stenosis score of the discrete plaque group was lower than that of the diffuse plaque group(5.15±3.55 vs. 14.91±5.37, Pü0.001). The other four scores demonstrated significant inter-group difference as well (all P<0.05). The remodeling index of thediscrete plaque group was higher (1.12±0.16 vs.0.97±0.20, Pü0.05). Follow-up data showed that major adverse cardiac events occurred more frequently in diffuse plaque group than in discrete group (29.41% vs. 11.48%, P=0.0288).

CONCLUSIONSCharacteristics of discrete and diffuse plaques may be significantly different among different classes of ACS. The diffuse plaque may present higher risk, correlated to higher mortality. The diagnosis of discrete and diffuse plaques by MDCT would provide a new insight into the prognosis and treatment of ACS.

Acute Coronary Syndrome ; classification ; Adult ; Aged ; Coronary Artery Disease ; diagnostic imaging ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Plaque, Atherosclerotic ; diagnostic imaging ; Tomography, X-Ray Computed ; methods

Our previous study revealed that spaceflight induced biological changes in human cervical carcinoma Caski cells. Here, we report that 48A9 cells, which were subcloned from Caski cells, experienced significant growth suppression and exhibited low tumorigenic ability after spaceflight. To further understand the potential mechanism at the transcriptional level, we compared gene expression between 48A9 cells and ground control Caski cells with suppression subtractive hybridization (SSH) and reverse Northern blotting methods, and analyzed the relative gene network and molecular functions with the Ingenuity Pathways Analysis (IPA) program. We found 5 genes, SUB1, SGEF, MALAT-1, MYL6, and MT-CO2, to be up-regulated and identified 3 new cDNAs, termed B4, B5, and C4, in 48A9 cells. In addition, we also identified the two most significant gene networks to indicate the function of these genes using the IPA program. To our knowledge, our results show for the first time that spaceflight can reduce the growth of tumor cells, and we also provide a new model for oncogenesis study.
Blotting, Northern ; methods ; Cell Line, Tumor ; Cell Proliferation ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Gene Library ; Gene Regulatory Networks ; Humans ; Nucleic Acid Hybridization ; methods ; Space Flight ; Up-Regulation ; Uterine Cervical Neoplasms ; genetics ; pathology