0.05),but existed between B0 and B10,B5 and B10(P

benign,of which,there were significan differences in PV and PE value between any two of the three lesions. There were significant differences in BV value only between benign and inflammatory pulmonary lesions(P0. 05). Conclusion CT perfusion imaging is of important value in differentiating inflammatory,malignant and benign masses of the lung and estimating the degree of malignancy of lung cancer.

OBJECTIVE: To investigate the relation between expression of vascular endothelial growth factor (VEGF)/ proliferating cell nuclear antigen (PCNA) and multi-slice spiral computer tomography (MSCT) perfusion imaging. METHODS: Sixty-one patients who underwent CT perfusion scan by 16-slice spiral CT were examined. Among them,22 were brought into our research after surgery. The corresponding layers of tumor tissue specimens to the layer of CT perfusion scan were selected to determine the expression of CD34,VEGF, and PCNA. Spearman correlation analysis was used to determine the relation between differentiation of non-small cell lung cancer (NSCLC), the expression of CD34,VEGF/PCNA, and CT perfusion parameters. RESULTS: There was a lot of heterogeneity in VEGF and PCNA expression of NSCLC.The degree of differentiation had positive correlation with the uncomplete lumen of the surrounding area CD34-MVD and the expression of PCNA and VEGF (P<0.05).There were positive correlations between the uncomplete lumen of the surrounding area CD34-MVD and expression of VEGF and PCNA, respectively (both P<0.05). Blood flow (BF), blood volume (BV),and peak enhancement image (PEI) decreased with the decreasing differentiation of NSCLC (P<0.05). The total CD34-MVD showed a positive correlation with PEI (P<0.05),and the uncomplete lumen of the surrounding area CD34-MVD showed a negative correlation with BF,BV, and PEI (all P<0.05). The PCNA expression showed a negative correlation with BF,BV, and PEI (P<0.05). CONCLUSION PCNA and VEGF expression in NSCLC regulates angiogenesis and proliferation at the same time. Perfusion parameters reflect the expression of microvascular architecture phenotype, and exactly evaluate the malignant degree of tumor.
Adenocarcinoma ; blood supply ; diagnostic imaging ; pathology ; Carcinoma, Non-Small-Cell Lung ; blood supply ; diagnostic imaging ; pathology ; Carcinoma, Squamous Cell ; blood supply ; diagnostic imaging ; pathology ; Cell Proliferation ; Female ; Humans ; Lung Neoplasms ; blood supply ; diagnostic imaging ; pathology ; Male ; Neovascularization, Pathologic ; Proliferating Cell Nuclear Antigen ; metabolism ; Tomography, Spiral Computed ; Vascular Endothelial Growth Factor A ; metabolism

OBJECTIVE: To explore the degree, mechanism and clinical significance of three-dimensional tumor microvascular architecture phenotype heterogeneity (3D-TMAPH) in non-small cell carcinoma (NSCLC). METHODS: Twenty-one samples of solitary pulmonary nodules were collected integrally. To establish two-dimensional tumor microvascular architecture phenotype (2D-TMAP) and three-dimensional tumor microvascular architecture phenotype (3D-TMAP), five layers of each nodule were selected and embedded in paraffin. Test indices included the expressions of vascular endothelial growth factor (VEGF), proliferating cell nuclear antigen (PCNA), EphB4, ephfinB2 and microvascular density marked by anti-CD34 (CD34-MVD). The degrees of 3D-TMAPH were evaluated by the coefficient of variation and extend of heterogeneity. Spearman rank correlation analysis was used to investigate the relationships between 2D-TMAP, 3D-TMAP and clinicopathological features. RESULTS: 3D-TMAPH showed that 2D-TMAP heterogeneity was expressed in the tissues of NSCLC. The heterogeneities in the malignant nodules were significantly higher than those in the active inflammatory nodules and tubercular nodules. In addition, different degrees of heterogeneity of CD34-MVD and PCNA were found in NSCLC tissues. The coefficients of variation of CD34- MVD and PCNA were positively related to the degree of differentiation (all P<0.05), but not related to the P-TNM stages, histological type or lymphatic metastasis (all P>0.05). The level of heterogeneity of various expression indexes (ephrinB2, EphB4, VEGF) in NSCLC tissues were inconsistent, but there were no significant differences in heterogeneity in NSCLC tissues with different histological types (P>0.05). CONCLUSION 3D-TMAPH exists widely in the microenvironment during the genesis and development of NSCLC and has a significant impact on its biological complexity.
Adult ; Aged ; Capillaries ; ultrastructure ; Carcinoma, Non-Small-Cell Lung ; blood supply ; Ephrin-B2 ; metabolism ; Female ; Humans ; Lung Neoplasms ; blood supply ; Male ; Middle Aged ; Neovascularization, Pathologic ; pathology ; Phenotype ; Proliferating Cell Nuclear Antigen ; metabolism ; Vascular Endothelial Growth Factor A ; metabolism

OBJECTIVE: To investigate the relation between multi-slice spiral CT pulmonary perfusion imaging and the cavity of microvessel in lung cancer. METHODS: Altogether 36 patients with malignant nodules who underwent multi-slice spiral CT perfusion scan were examined.The perfusion parameters were collected and compared with the microvessel density (MVD), the incomplete lumen MVD, and the differentiation of non-small cell lung cancer (NSCLC). The patients were divided into a hyper-perfusion group and a hypo-perfusion group by the value of perfusion parameters. The maturity of microvessel and the degree of differentiation in NSCLC between the 2 groups was analyzed. RESULTS: Blood flow (BF), blood volume (BV), and peak enhancement image(PEI) of the malignant nodules were (39.7±11.5) mL/(100 mg.min), (8.6±3.8)mL/100 g, and (20.1±8.6)HU, respectively. There was a positive correlation between PEI and MVD(r=0.645,P<0.01), and a negative correlation between BF and MVD(r=-0.280,P=0.048). There were negative correlations of BF, BV, PEI with the incomplete lumen MVD (P<0.05). BF had the highest correlation coefficient(r=-0.882,P<0.01).The incomplete lumen MVD of the hyper-perfusion group was significantly lower than that of hypo-perfusion group (P<0.05),but there was no significant difference in MVD between the 2 groups. There were negative correlations of BF, BV,PEI with the degree of differentiation (P<0.05). BF had the highest correlation coefficient(r=-0.751,P<0.01). CONCLUSION Multi-slice spiral CT pulmonary perfusion imaging is helpful to evaluate the degree of differentiation and status of angiogenesis in lung cancer, and its basis is the cavity of microvessel.
Capillaries ; pathology ; Carcinoma, Non-Small-Cell Lung ; blood supply ; diagnostic imaging ; pathology ; Diagnosis, Differential ; Female ; Humans ; Lung Neoplasms ; blood supply ; diagnostic imaging ; pathology ; Male ; Neovascularization, Pathologic ; diagnostic imaging ; Solitary Pulmonary Nodule ; blood supply ; diagnostic imaging ; pathology ; Tomography, Spiral Computed ; methods

OBJECTIVETo detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.

METHODSThe 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.

RESULTSA missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.

CONCLUSIONThe probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.

Base Sequence ; Child, Preschool ; China ; Cleft Palate ; genetics ; Collagen Diseases ; genetics ; Collagen Type II ; genetics ; Dwarfism ; genetics ; Exons ; Face ; abnormalities ; Humans ; Hyaline Membrane Disease ; genetics ; Male ; Molecular Sequence Data ; Mutation, Missense ; Open Reading Frames ; Osteochondrodysplasias ; genetics ; RNA Splicing

OBJECTIVECockayne syndrome is a rare disease and difficult to be recognized. This study aimed to expand the knowledge of the clinical and molecular characteristics of the children with Cockayne syndrome (CS).

METHODClinical data of two siblings with classic CS of Guangzhou Women and Children's Medical Center from July 2013 to November 2014 were obtained and analyzed. The whole DNA of peripheral blood was collected from two CS siblings and their parents. Amplification of all exons and adjacent introns for ERCC6 gene was conducted using PCR, and measurement of reaction product was performed to find mutation sites by two-way sequencing.

RESULTTwo affected siblings were males, and came from unconsanguineous parents, 7 years and 5 months old and 4 years and 8 months old, respectively. They were in treatment because of developmental and mental retardation for years. When they were younger than one year of age, their heights and weight were within normal limits. However, poor growth of height and weight and psychomotor retardation appeared after one and a half years of age, as well as skin and eye sensitivity to sunshine, hearing impairment, optic nerve atrophy, microcephaly, and deep-set eyes. The proband's height was 90.8 cm, and weight 9.1 kg, head circumference 41 cm, and chest circumference 44 cm when he was taken to hospital. The elder brother of the proband had a height of 92 cm, weight 11.2 kg, head circumference 41 cm, and chest circumference 44 cm when he was taken to hospital. When the proband was four and a half years old, ventricular enlargement, hypomyelination, and brain atrophy were detected for his elder brother at 7 years of age by cranial MRI. MRS imaging indicated that damages occurred at the left and right sides of dorsal thalamus, lobus insularis, along with the left half circle of central neurons. Symmetrical calcification on bilateral basal ganglia was found on the brain CT scan. Pathogenic compound heterozygous c. 1357C > T (p.Arg453Ter) and c. 1607T > G (p.Leu536Trp) mutations of ERCC6 gene were identified in the two siblings which were separately inherited from their unaffected parents.

CONCLUSIONCS children are usually normal at birth, however, they have severe clinical characteristics such as poor growth, psychomotor retardation, cerebral injury, microcephalus, deep-set eyes, and skin sensitivity to sunshine. ERCC6 gene mutation usually occurs, and it is easy to misdiagnose CS as cerebral palsy, primary microcephaly, and so on.

Asian Continental Ancestry Group ; Child ; Child, Preschool ; Cockayne Syndrome ; genetics ; DNA Helicases ; genetics ; DNA Mutational Analysis ; DNA Repair Enzymes ; genetics ; Exons ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Poly-ADP-Ribose Binding Proteins ; Polymerase Chain Reaction ; Siblings

OBJECTIVETo analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency.

METHODComprehensive analyses of this case were performed, including clinical symptoms, signs, biochemical examinations and therapeutic effects. The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood. And variations were investigated by sequencing the PCR product. The patient was diagnosed with pyruvate dehydrogenase complex deficiency by sequence analysis of PDHA1 gene.

RESULTThe patient was a 2 years and 4 monthes old boy. He presented with muscle hypotonia and weakness for one year, and experienced recurrent episodes of unstable head control, unable to sit by himself or stand without support, with persistently hyperlactacidemia. Metabolic testing revealed blood lactate 5.37 mmol/L, pyruvate 0.44 mmol/L, and lactate/pyruvate ratio was 12.23. MRI of the brain showed hyperintense signals on the T2 and T2 Flair weighted images in the basal ganglia bilaterally. Sequence analysis of PDHA1 gene showed a G>A point mutation at nucleotide 778, resulting in a substitution of glutarnine for arginine at position 263 (R263Q). And the diagnosis of pyruvate dehydrogenase complex deficiency was identified. By giving the therapy with ketogenic diet, vitamin B(1), coenzyme Q(10) and L-carnitine , the boy was in a stable condition.

CONCLUSIONThe severity and the clinical phenotypes of pyruvate dehydrogenase complex deficiency varied. Sequence analysis of PDHA1 gene revealed a 788G>A (R263Q) mutation. Patients who presented with unexplained muscle hypotonia, weakness and hyperlactacidemia could be diveded by gene analysis. And appropriate treatment can improve the quality of life.

Brain ; Carnitine ; Child, Preschool ; Exons ; genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Phenotype ; Pyruvate Dehydrogenase (Lipoamide) ; genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease ; diagnosis ; genetics ; Pyruvic Acid