Objective To study the significance of the expression of mitochondrial DNA Cyt-b and vascular endothelial growth factor mRNA in human breast cancer. Methods Reversed-transcription polymerase chain reaction(RT-PCR)was applied to detect the expressions of mtDNA Cyt-b and VEGF in 19 samples of breast cancer tissue and 19 samples of peritumoral tissues.?-actin served as a quantitative standard marker.The different expressions in breast cancer tissues and paracancerous tissues were compared and their relations with clinical pathology parameters were analyzed. Results The expressions of mtDNA Cyt-b and VEGF mRNA in 19 samples of breast cancer tissues were higher than those in paracancerous tissues,with a significant difference between the two groups(P

Objective To use the real-time shear wave elastography(SWE)to detect the elasticmodulus values of different breast lesions,and to assess its application value in differential diagnosis of benign and malignant breast lesions.Methods SWE was per-formed in 71 breast lesions from 63 pathologically confirmed patients.The maximum,minimum and mean elasticmodulus values in breast lesions were detected and the ROC curves were used to determine the optimal diagnostic cut off value.Results Among 7 1 le-sions,48 cases were benign lesions and 23 cases were malignant lesions.The diagnostic accuracy and Youden index of the ordinary ultrasound were 77.5% and 0.55 respectively.The maximum,minimum and mean elasticity values for malignant lesions were (106.7±37.9),(23.7±6.4),(44.8±6.6)kPa respectively,whereas which for benign lesions were(42.7±14.6),(17.2±6.3), (29.4±8.0)kPa respectively.The maximum,minimum and mean elastic values had statistically significant differences between be-nign and malignant lesions(P<0.05).The areas under the curve(AUC)of the maximum,minimum and mean elastic values were 0.963,0.798 and 0.914 respectively.Taking 78.1 kPa as the threshold of the maximum elasticity value,the sensitivity was 82.6%and the specificity was 95.8%.Taking 37.6 kPa as the threshold of the mean elasticity value,the sensitivity was 87.0% and the specificity was 83.3%.Conclusion SWE provides a new way for the differential diagnosis of benign and malignant breast lesions, and the maximum and mean elastic value can be used as the diagnostic evidence for differentiating benign and malignant breast le-sions.

BACKGROUND:The aim of spinal mobilization and spinal manipulation is to correct vertebral subluxation. However, facet joint pressures are not clear during these two therapies.
OBJECTIVE:To compare human lumbar facet joint pressures during simulated high-velocity, low-amplitude spinal manipulationversuslow-velocity, low-amplitude spinal mobilization.
METHODS:Totaly 12 adult fresh lumbar spinal specimens (T12-S2) were divided into two groups randomly. Parameters of simulated spinal mobilization (n=6): preload angle 15° (speed 3°/s), maximum angle 20° (speed 1°/s), with 9 N horizontal force to L5 spinous process. Parameters of simulated spinal manipulation (n=6): preload angle 15° (speed 3°/s), impulse angle 20° (impulse speed 33°/s), with 22 N horizontal force to L5 spinous process. Pressures of bilateral L4-5/L5-S1 facet joints were measured with Tekscan system.
RESULTS AND CONCLUSION:(1) During two spinal manipulative therapies (rotation to the right and then back to the neutral position), pressures of right facet joints decreased first and then increased gradualy, while pressures of left facet joints changed oppositely. (2) Pressures of right facet joints were similar regardless of manipulation type (P > 0.05). The maximum pressure of left facet joints was larger during manipulation than that during mobilization (P < 0.05). (3) Descending speed of pressures of right joint was larger during manipulation than that during mobilization (P < 0.01), and no significant difference in ascending speed of pressure of right facet joints was detected (P > 0.05). Both ascending and descending speeds of the left facet joints were larger during manipulation than that during mobilization (P < 0.01). (4) During two spinal manipulative therapies, pressures of ipsilateral facet joints decreased first and then increased, while pressures of contralateral facet joints increased first and then decreased. Joint pressure after treatment restored to that before treatment. (5) Impulse speed and magnitude of pressures of facet joints during manipulation were larger than that during mobilization. Facet joints are more possible to be injured during manipulation than that during mobilization. During manipulation, we should pay attention to the speed and intensity of the impact.

Objective To investigate the effects of different CO2 pneumoperitoneum on cell cycle and cell cycle protein of a gastric cancer cell line. Methods Human gastric cancer cell line MNK-45 were exposed to 0,10,12 and 15 mm Hg CO2 pneumoperitoneum in vitro for 4 hrs. Cell cycle was measured by flowcytometry, the expression of CDK4 ,Cyclin D1、Rb and pRb was studied by Western-blot, and the binding ability of CDK4 and Cyclin D1 was evaluated by immunoprecipitation. Results The cell proliferation index in 15 mm Hg CO2 pneumoperitoneum group dropped significantly (27.4% ± 3. 7%) vs. (36. 4% ±3. 3%) ,P <0. 05, while that in other groups did not change significantly. The protein of CDK4、Cyclin D1and binding ability of Cyclin D1 and CDK4 dropped dramatically in the 15 mm Hg CO2 pneumoperitoneum group (0.71%±0.12%),(0.93% ±0.21%),(0.54%±0.11%),(0.18% ±0.02%) vs. (1.05% ±0.16%),(1.40% ±0.24%),(0.75% ±0.14%),(0.31% ±0.02%), all P<0.05. There were no changes of Rb in protein levels, while the phosphorylated Rb dropped obviously. Conclusion There was no obvious effects of clinical CO2 pneumoperitoneum on gastric cancer cells growth and proliferation.

Objective To investigate the feasibility of laparoscopic-assisted transanal pull-through resection and anastomosis in the treatment of ultra-low rectal cancer.Methods From November 2005 to December 2006,21 patients with ultra-low rectal cancer had undergone laparoscopic-assisted transanal pull-through resection and anastomosis in Southwest Hospital.The perioperative condition,postoperative complications and the result of follow-up were retrospectively analyzed.Results The operation was successfully performed on all the patients.The mean operation time and postoperative hospital stay were(216±25)minutes(170-260 minutes)and(9.4±1.0)days(7-11 days),respectively.The time needed for the recovery of gastrointestina]function was(65±14)hours(38-88 hours).The mean perioperative blood loss was(140±49)ml(80-250 ml).All the patients were followed up for(22±4)months(15-28 months),and no anastomotic bleeding or fistula was observed.Six patients developed mild to moderate anastomotic striclure,1 local recurrence and 1 liver metastasis.Conclusions Laparoscopic-assisted transanal pull-through resection and anastomosis for ultra-low rectal cancer is safe and feasible,and the short-term effect is satisfactory.

Objective To investigate the effects of different CO2 pneumoperitoneum pressures on gastric cancer cells' growth and proliferation in nude mouse model of implanted tumor. Methods Human gastric cancer cell lines MNK-45 were exposed under 0、10、12 and 15 mm Hg CO2 pneumoperitoneum for 4 hrs respectively. 2 × 106 processed cells were inplanted into nude mice subcutaneously. Three weeks later, mice were sacrificed and the weight and bulk of the tumor measured. Then we observed the transplantation tumor by HE stain and Ki-67 stain. Results There was no significant difference in tumor's growing time, bulk and weight between 0, 10, 12 mm Hg CO2 pneumoperitoneum groups (7. 8 d, 7. 2 d, 7. 8 d; 1. 2 cm3, 1. 3 cm3, 1. 3 cm3; 1.5 g, 1. 9 g, 1. 6 g)and the control group (7. 3 d, 1. 2 cm3, 1.4 g) (P > 0. 05 ). The growing time of tumor in 15 mm Hg CO2 pneumoperitoneum (12. 5 d) was obviously longer than the control group ( P < 0.05 ) , the bulk and weight of tumor in 15 mm Hg CO2 pneumoperitoneum (0. 5 cm3, 0. 5 g) group significantly decreased compared with the control group (P <0.05). The positive rate of Ki-67 in 15 mm Hg CO2 pneumoperitoneum (27. 5% ) group was obviously lower than the control group (59.6%) (P<0.01). However, there were no significant differences between 0, 10, 12 mm Hg CO2 pneumoperitoneum groups (61.2%, 60.5%, 63.4%) and the control group (P > 0.05). Conclusion Clinically adopted CO2 pneumoperitoneum pressures have no significant effect on gastric cancer cells growth and proliferation.

Objective This paper attempts to explore the application of dizziness handicap inventory (DHI) in evaluation of health -related quality of life (QOL ) changes of patients with benign paroxysmal positional vertigo (BPPV) before and after the treatment with canalith repositioning procedure (CRP) .Methods The DHI was em-ployed to investigate and evaluate the dizziness handicap of 120 patients with BPPV before and after 3 months of CRP treatment (treatment group) and 60 healthy controls (control group) ,while the DHI scoring results were com-pared .Results As indicated by DHI evaluation ,the scoring of each DHI items of patients with BPPV before treatment was higher than that of control group ,treatment group before treatment :functional score 22 .60 ± 6 .54 ,emotional score 18 .50 ± 8 .28 ,physical score 17 .90 ± 5 .05 ,total composite score 59 .00 ± 14 .32 .For the control group:functional score 1 .35 ± 1 .74 ,emotional score 1 .00 ± 1 .01 ,physical score 1 .37 ± 1 .86 ,total composite score 3 .72 ± 3 .46 ,with the differ-ence statistically significant (P<0 .05) .The DHI scoring of treatment group of patients with BPPV after 3 months of CRP treatment was lower than that before the treatment (treatment group after 3 months CRP treatment :functional score 1 .10 ± 1 .42 ,emotional score 1 .50 ± 1 .70 ,physical score 1 .45 ± 1 .46 ,total composite score 4 .05 ± 3 .66) ,and the difference was statistically significant (P<0 .05) .There was no statistically significant difference comparing to the control group (P>0 .05) .Conclusion CRP is effective to treat BPPV .The DHI is available for the evaluation of QOL of BPPV patients .

OBJECTIVE: To determine the carrier rate for common recessive genetic diseases in Chenzhou region in order to provide a reference for carrier screening in this region. METHODS: Targeted capture and high-throughput sequencing were carried out to detect potential variants of 79 genes associated with 88 recessive genetic diseases. Couples at risk were provided with prenatal diagnosis upon their subsequent pregnancies. RESULTS: A total of 1314 individuals were enrolled, among whom 355 (27.02%) were found to be carrier for at least one disease. The carrier rates for 8 diseases have exceeded 1%, with the most common two including thalassemia (11.72%, 154/1314) and autosomal recessive deafness (5.48%, 72/1314). Ten couples were found to be at risk for producing affected offspring. Among these, five females were carriers for X-linked recessive genetic diseases. Following genetic counseling, seven couples had accepted prenatal diagnosis, and 3 affected fetuses were diagnosed. CONCLUSION The disease types and pathogenic variants of Chenzhou region have differed from previously reported. Further research is required to validate the above finding with a larger populations.
Female ; Pregnancy ; Humans ; China ; Prenatal Diagnosis ; Fetus ; Genetic Counseling ; Genetic Diseases, X-Linked

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variations (CNVs) in fetuses. METHODS: 46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People's Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis. RESULTS: Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNVs were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNVs (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77). CONCLUSION NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNVs, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Chromosome Aberrations ; Chromosome Disorders/genetics* ; Aneuploidy ; Fetus

OBJECTIVE: To assess the diagnostic value of whole exome sequencing (WES) for patients with intellectual disability (ID) or global developmental delay (GDD). METHODS: 134 individuals with ID or GDD who presented at Chenzhou First People's Hospital between May 2018 and December 2021 were selected as the study subjects. WES was carried out on peripheral blood samples of the patients and their parents, and candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq) and co-segregation analysis. The pathogenicity of the variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: A total of 46 pathogenic single nucleotide variants (SNVs) and small insertion/deletion (InDel) variants, 11 pathogenic genomic copy number variants (CNVs), and 1 uniparental diploidy (UPD) were detected, which yielded an overall detection rate of 43.28% (58/134). The 46 pathogenic SNV/InDel have involved 62 mutation sites in 40 genes, among which MECP2 was the most frequent (n = 4). The 11 pathogenic CNVs have included 10 deletions and 1 duplication, which have ranged from 0.76 to 15.02 Mb. A loss of heterozygosity (LOH) region of approximately 15.62 Mb was detected in 15q11.2q12 region in a patient, which was validated as paternal UPD based on the result of trio-WES. The patient was ultimately diagnosed as Angelman syndrome. CONCLUSION WES can detect not only SNV/InDel, but also CNV and LOH. By integrating family data, WES can accurately determine the origin of the variants and provide a useful tool for uncovering the genetic etiology of patients with ID or GDD.
Humans ; Exome Sequencing ; Intellectual Disability/genetics* ; DNA Copy Number Variations ; Mutation ; Loss of Heterozygosity