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1.
Article in Chinese | MEDLINE | ID: mdl-37006142

ABSTRACT

Objective: To construct and verify a light-weighted convolutional neural network (CNN), and explore its application value for screening the early stage (subcategory 0/1 and stage Ⅰ of pneumoconiosis) of coal workers' pneumoconiosis (CWP) from digital chest radiography (DR) . Methods: A total of 1225 DR images of coal workers who were examined at an Occupational Disease Prevention and Control Institute in Anhui Province from October 2018 to March 2021 were retrospectively collected. All DR images were collectively diagnosed by 3 radiologists with diagnostic qualifications and gave diagnostic results. There were 692 DR images with small opacity profusion 0/- or 0/0 and 533 DR images with small opacity profusion 0/1 to stage Ⅲ of pneumoconiosis. The original chest radiographs were preprocessed differently to generate four datasets, namely 16-bit grayscale original image set (Origin16), 8-bit grayscale original image set (Origin 8), 16-bit grayscale histogram equalized image set (HE16) and 8-bit grayscale histogram equalized image set (HE8). The light-weighted CNN, ShuffleNet, was applied to train the generated prediction model on the four datasets separately. The performance of the four models for pneumoconiosis prediction was evaluated on a test set containing 130 DR images using measures such as the receiver operating characteristic (ROC) curve, accuracy, sensitivity, specificity, and Youden index. The Kappa consistency test was used to compare the agreement between the model predictions and the physician diagnosed pneumoconiosis results. Results: Origin16 model achieved the highest ROC area under the curve (AUC=0.958), accuracy (92.3%), specificity (92.9%), and Youden index (0.8452) for predicting pneumoconiosis, with a sensitivity of 91.7%. And the highest consistency between identification and physician diagnosis was observed for Origin16 model (Kappa value was 0.845, 95%CI: 0.753-0.937, P<0.001). HE16 model had the highest sensitivity (98.3%) . Conclusion: The light-weighted CNN ShuffleNet model can efficiently identify the early stages of CWP, and its application in the early screening of CWP can effectively improve physicians' work efficiency.


Subject(s)
Anthracosis , Coal Mining , Pneumoconiosis , Humans , Retrospective Studies , Anthracosis/diagnostic imaging , Pneumoconiosis/diagnostic imaging , Neural Networks, Computer , Coal
2.
Zhonghua Wei Chang Wai Ke Za Zhi ; 25(1): 63-70, 2022 Jan 25.
Article in Chinese | MEDLINE | ID: mdl-35067036

ABSTRACT

Objective: To evaluate the safety and efficacy of distal rectal transection by using transanterior obturator nerve gateway (TANG) in laparoscopic radical resection for lower rectal cancers. Methods: A descriptive case series study was performed. Inclusion criteria: (1) patients with primary rectal adenocarcinoma, with the distance of 3-5 cm from tumor to anal verge, with normal anal function before surgery and a desire to preserve anus; (2) laparoscopic radical resection of rectal cancer was performed and the distal rectum was transected using TANG approach. Exclusion criteria: (1) patients with distant metastasis or receiving palliative surgery; (2) the distal rectum was transected using non-TANG approach; (3) patients receiving combined multiple organs resection; (4) patients complicated with other tumors requiring additional treatment during the study. Clinicopathological data of 50 patients with low rectal cancer undergoing laparoscopic resection using TANG approach between January 2019 and December 2020 in Peking University First Hospital were retrospectively collected. Perioperative conditions, length of specific pelvic lines, additional angle and postoperative short-term outcomes were observed and described. Additional angle was defined as the angle between the simulated stapling line with the traditional approach and the real stapling line with the TANG approach. Data following normal distribution were presented as Mean±SD, or M [quartile range (Q(R))] otherwise. Results: All the patients successfully completed laparoscopic surgery without transferring to open or transanal surgery. The median operative time was 193 (80) min and blood loss was 50 (58) ml. All tumors received R0 resection with the distance from the tumor to distal resection margin of 1.7 (0.4) cm and the anastomotic height of 2.0 (0.1) cm. Rectal transection was completed by one cartridge in 52.0% of the cases (26/50) and two cartridges in 48.0% (24/50). Length of the stapling line was 6.6 (1.5) cm. The time to construct the gateway was 8.0 (6.0) min. The vessel damage occurred in 4.0% of the cases (2/50) and none of the cases encountered obturator nerve damage. Inlets of the pelvis in TANG and traditional approach were (9.9±1.3) cm vs. (7.2±1.1) cm (t=24.781, P<0.001). Additional angle of TANG was (15±2) °. The transecting positions on the midline and right edge of the rectum specimen by TANG were 0.6 (0.2) cm and 1.0 (0.2) cm lower than those by the traditional approach. One case (2.0%) died of pulmonary infection on the 17th day after surgery, 2 cases (4.0%) received re-operation and 14 cases (28.0%) had postoperative complications, including anastomotic leakage (7/50, 14.0%), urinary retention (6/50, 12.0%), pelvic infection (2/50, 4.0%) and ileus (2/50, 4.0%). The median postoperative hospital stay was 12 (6) days. Conclusions: Laparoscopic distal rectal transection by using TANG approach is safe and effective in the treatment of low rectal cancer. As an alternative rectal transecting method, TANG has advantages especially for the obese and those with a contracted pelvis and ultralow rectal cancers.


Subject(s)
Laparoscopy , Rectal Neoplasms , Humans , Obturator Nerve , Rectal Neoplasms/surgery , Rectum/surgery , Retrospective Studies , Treatment Outcome
3.
Article in Chinese | MEDLINE | ID: mdl-32447893

ABSTRACT

Objective: To provide scientific basis for the prevention and control of pneumoconiosis and the formulation of relevant policies, this paper discusses the loss of health life and economic loss caused by coal worker's pneumoconiosis in a mining group. Methods: From March to October 2017, 1262 cases of coal worker's pneumoconiosis were diagnosed in a mining group from 1972 to 2013. The direct and indirect economic losses are calculated by the step-by-step model method. Direct economic losses include medical expenses, one-time disability allowance, disability allowance, funeral allowance, one-time work death allowance, living and nursing expenses, food allowance, pension for supporting relatives and transportation expenses, etc. Indirect economic losses includes loss of social productivity, additional training fee for new employees, transportation fee for accompanying family members, loss of social productivity of accompanying family members, loss of production suspension and production reduction, etc. Life table method was used to calculate the loss of social productivity caused by coal worker's pneumoconiosis. Results: All 1262 coal worker's pneumoconiosis patients were male. In the stage of pneumoconiosis, 95.40% (1204/1262) of the first stage of pneumoconiosis and 42.62% (538/1262) of the seventh stage of disability. The age of diagnosis (22.02-71.33) was 47.38 years on average. 1262 coal worker's pneumoconiosis patients caused a total of 9068.54 years of health life loss, of which YLD accounted for 93.56% (8484.69/9068.54) . The loss of YLD (0.06-33.30) years in 1262 coal worker's pneumoconiosis patients was 6.70 years per capita. The total economic loss of 1262 coal workers with pneumoconiosis was 2842185447.70 yuan, with a per capita of 2252127.93 yuan. The direct economic loss accounted for 81.59% (2318990168.46/2842185447.70) , which was 4.42 times of the indirect economic loss. Among the direct economic loss per capita, medical expenses accounted for a large proportion of 50.04% (919510.84/1837551.64) . The per capita indirect economic loss is 414576.29 yuan. The loss of social productivity accounted for 56.18% (232908.95/414576.29) . Conclusion: Coal worker's pneumoconiosis causes heavy economic burden and serious loss of social productivity.


Subject(s)
Anthracosis/epidemiology , Coal Mining , Disabled Persons , Anthracosis/economics , Cost of Illness , Humans , Male , Middle Aged
4.
Article in Chinese | MEDLINE | ID: mdl-31177714

ABSTRACT

Objective: To explore the effect of comprehensive rehabilitation treatment of individualized exercise program on lung function, exercise ability, quality of life and biochemical indexes of coal workers' pneumoconiosis patients, and to provide scientific and effective methods for rehabilitation treatment of coal workers' pneumoconiosis. Methods: In Huaibei Coal Mine Occupational Disease Prevention and Control Hospital, the data of pneumoconiosis patients treated by pneumoconiosis department in the hospital were collected and sorted out. 80 patients were selected according to the inclusion and exclusion criteria. Using a random number table, they were randomly divided into two groups with 40 cases in each group. The data investigated in this study include the results before and after treatment. Pulmonary function index, BMI index, six-minute walking distance (6MWD) , quality of life questionnaire (SF-36) , hospital anxiety and depression scale (HADS) , st George's breathing questionnaire (sgrq) , c-reactive protein (CRP) and blood oxygen saturation (SpO(2)) were used to evaluate and compare the efficacy of the two groups. Results: The lung function indexes of the test group were significantly higher than those of the control group after treatment (P<0.05) , including forced vital capacity, forced vital capacity in the first second, maximum expiratory flow, expiratory flow when vital capacity was 75% and expiratory flow when vital capacity was 25%. The forced vital capacity, the first-second forced vital capacity and the maximum expiratory flow of the patients in the test group were higher after treatment than before (P<0.05) . The six-minute walking distance of the test group was greater than that of the control group after treatment (P<0.05) . After treatment, the scores of st George's breathing questionnaire in the test group were lower than those in the control group (P<0.05) . The scores of quality of life questionnaire in the test group were higher than those in the control group after treatment (P<0.05) . Conclusion: The comprehensive rehabilitation treatment of individualized exercise program improved the endurance and exercise ability of pneumoconiosis patients, improved the respiratory status and quality of life of pneumoconiosis patients in Huaibei Coal Mine, improved the lung function of pneumoconiosis patients, and improved the forced vital capacity of patients, but the small airway function has not been significantly improved.


Subject(s)
Anthracosis , Exercise Therapy , Pneumoconiosis , Coal , Forced Expiratory Volume , Humans , Mining , Occupational Exposure , Pneumoconiosis/rehabilitation , Quality of Life , Vital Capacity
5.
Genet Mol Res ; 15(2)2016 Apr 25.
Article in English | MEDLINE | ID: mdl-27173233

ABSTRACT

The expression of interleukin-11 (IL-11) and its products STAT3 and phospho-STAT3 (p-STAT3) in patients with chronic superficial gastritis (CSG), chronic atrophic gastritis (CAG), and gastric cancer (GC) may provide insight into the diagnostic role of the IL-11/STAT3 signaling pathway in GC. Gastric mucosa specimens and serum samples were collected from 90 patients with CSG, CAG, and GC (30/group). The expression of IL-11, STAT3, and p-STAT3 was detected via immunohistochemistry and western blot. Additionally, serum levels of IL-11 were measured by enzyme-linked immunosorbent assay. For IL-11, 60% stained positive in CAG and 83.3% stained positive in GC, which were both higher than the value observed for CSG (33.3%). Moreover, the percent positive for IL-11 in GC was higher than that in CAG (P < 0.05). The percent positive for STAT3 in CAG (80%) and GC (83.3%) was higher than that in CSG (53.3%) (P < 0.05). Compared with CSG (36.7%), the percent positive for p-STAT3 in CAG (63.3%) and GC (86.7%) was also significantly higher. STAT3 expression was similar in GC and CAG, which was significantly higher than that in CSG. Expectedly, p-STAT3 expression gradually increased from CSG to CAG to GC. Furthermore, p-STAT3 levels were higher in GC tissues than in CAG (P < 0.01). Intriguingly, serum IL-11 levels gradually increased from CSG to CAG to GC, which coincided with disease severity. Together, these results suggest that the IL-11/STAT3 signaling pathway plays a critical role in human CAG, and may provide new targets to prevent and treat GC.


Subject(s)
Gastritis, Atrophic/genetics , Interleukin-11/biosynthesis , STAT3 Transcription Factor/biosynthesis , Stomach Neoplasms/genetics , Aged , Female , Gastric Mucosa/pathology , Gastritis, Atrophic/pathology , Humans , Interleukin-11/genetics , Male , Middle Aged , Precancerous Conditions/genetics , Precancerous Conditions/pathology , STAT3 Transcription Factor/genetics , Signal Transduction , Stomach Neoplasms/pathology
6.
Andrologia ; 48(10): 1253-1260, 2016 Dec.
Article in English | MEDLINE | ID: mdl-26940145

ABSTRACT

The associations between three single nucleotide polymorphisms (SNPs; rs3749897, rs16895863 and rs373341) of UBR2 gene and idiopathic aspermia or oligospermia were investigated in this study by a case-control experiment with 149 fertile and 316 infertile men, including 244 patients with idiopathic aspermia and 72 patients with severe oligospermia. The time-of-flight mass spectrometry (Sequenom MassARRAY®  system) was used in this study. A significant difference between the oligospermia men (oligospermia group) and the fertile men (control group) was observed in this research (odds ratio [OR]: 2.764; 95% CI: 95% confidence interval [CI]: 1.171-6.525; P = 0.017), which could indicate that the combined AT-TC-CC genotype in the UBR2 gene (rs16895863, rs373341, rs3749897 respectively) is a possible risk of idiopathic oligospermia for men in Sichuan, China.


Subject(s)
Aspermia/genetics , Genetic Predisposition to Disease , Oligospermia/genetics , Polymorphism, Single Nucleotide , Ubiquitin-Protein Ligases/genetics , Adult , Alleles , China , Genetic Association Studies , Genotype , Humans , Male , Young Adult
7.
Zhonghua Fu Chan Ke Za Zhi ; 51(2): 87-91, 2016 Feb.
Article in Chinese | MEDLINE | ID: mdl-26917475

ABSTRACT

OBJECTIVE: To investigate the clinical effect of McDonald cervical cerclage and the affecting factors. METHODS: Between January 2002 to December 2013 in Peking University First Hospital we performed McDonald cervical cerclage for 116 single pregnant women. They were defined as the successful group who deliveried the live babies after 28 weeks after the cerclage and the failure group who deliveried in the second trimester. According to the surgical indications they were divided into preventive cerclage group and therapeutic cerclage group. Then we analyzed the curative effect and the affecting factors in the groups. RESULTS: (1) In the 116 cases, 12 cases (10.3%) failed, and 104 cases (89.7%) succeeded. In the successful group, 37 cases (35.6%,37/104) deliveried pretermly and 67 cases (64.4%) deliveried termly. And there were 56 cases of vaginal delivery (53.8%), and 48 cases (46.2%) of cesarean section. (2) Among the 116 cases, 48 cases (41.4%) were included in prophylactic cerclage group, the gestational age was (16.3± 2.2) weeks, 68 (58.6%) cases were included in therapeutic group, the gestational age was (24.0±2.2) weeks. The operation time was (22±9) minutes in preventive group and (24±13) minutes in therapeutic group, there was no statistical difference between the two groups (P>0.05). Live-birth rate between preventive cerclage group and therapeutic cerclage group was no statistically significant difference (P>0.05). The term birth rate (72.9%, 35/48) in preventive group was higher than that in therapeutic group (47.1%, 32/68), the difference was statistically significant (P<0.01). Neonatal hospitalization rate was lower in preventive group (14.6%, 7/48) than therapeutic group (36.8%, 25/68) , the difference was statistically significant (P< 0.01). (3) In the failure group placental pathology was examed in 7 cases. The placental tissue showed a large number of neutrophils infiltrating in 6 cases (6/7). In the successful group, 27 pregnant women deliveried between 28 to 33(+6) weeks (26.0%,27/104), 10 pregnant women deliveried between 34 to 36(+6) weeks 10 cases (9.6%, 10/104), 67 cases deliveried after 37 weeks (64.4%, 67/104). A lot of factors including maternal age, the previous cervix operation history, perioperative application of progesterone, operation time and preoperative invasive procedure were compared between the successful group and the failure group. Only maternal age and preoperative invasive proedcure were statistically significant (P<0.05) and the others had no statistical significance (P>0.05). (4) There were 68 cases in the therapeutic group, 7 cases failed, and 61 cases succeeded; the preoperative cervical os in failure group [(21 ± 20) mm] was wider than that in successful group [(14±5) mm], the difference was statistically significant (P<0.05); and preoperative vaginal ultrasound measurement of cervical canal length were (18 ± 8) mm versus (19 ± 10) mm, there was no statistically significant difference (P>0.05). CONCLUSIONS: The McDonald cervical cerclage for cervical incompetence is a simple, safe and high successful rate of intervention measures. The term labor rate of prophylactic cervical cerclage was higher than that of the therapeutic cerclage. Older maternal age and preoperative invasive procedure may be the risk factors for cerclage. The infection may play an important factor leading to the failure of McDonald cervical cerclage.


Subject(s)
Cerclage, Cervical , Uterine Cervical Incompetence/surgery , Delivery, Obstetric , Female , Gestational Age , Humans , Maternal Age , Pregnancy , Pregnancy Outcome , Pregnancy Trimester, Second , Risk Factors , Term Birth
8.
Genet Mol Res ; 14(4): 15140-7, 2015 Nov 26.
Article in English | MEDLINE | ID: mdl-26634477

ABSTRACT

We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was extracted from these samples. Multiplex polymerase chain reaction was performed to screen the partial deletions of 25 sequence-tagged sites on the Y chromosome. In 111 cases with KFS, 1 case contained the AZFb+d+c deletion. The Gr/Gr deletion was identified in 12 KFS cases and 5 control cases. In addition, the b2/b3 deletion was identified in 13 KFS cases and 6 control cases. There were no significant differences in phenotype and genotype of the 2 partial AZFc deletions between patients and controls (P > 0.05). Our results suggest that patients with KFS may also have Y chromosome microdeletions to varying degrees and that the gr/gr deletion and b2/b3 deletion may not play a role in the susceptible genetic background of azoospermia in patients with KFS in the Sichuan population.


Subject(s)
Klinefelter Syndrome/genetics , Seminal Plasma Proteins/genetics , Azoospermia/genetics , Chromosome Deletion , Chromosomes, Human, Y/genetics , Gene Deletion , Genetic Loci/genetics , Humans , Infertility, Male/genetics , Male , Phenotype , Sequence Tagged Sites , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development/genetics
9.
Genet Mol Res ; 14(3): 9261-8, 2015 Aug 10.
Article in English | MEDLINE | ID: mdl-26345859

ABSTRACT

Previous studies have shown that genetic polymorphisms in exon7 of the NSUN7 gene can be used as an infertility marker in Iranian men with asthenospermia. However, there have been no equivalent studies in China. In the present study, we investigated the possible association between the genetic polymorphisms in exon7 of NSUN7 and asthenospermia in a Chinese Han population. We recruited 240 asthenospermic men as a patient group and 256 normospermic men as a control group, and analyzed the semen parameters on the basis of World Health Organization (WHO) guidelines. The genetic polymorphisms in exon7 of NSUN7 were detected by DNA sequence analysis. The results were analyzed statistically and a P value < 0.05 was considered significant. There were two genetic polymorphisms, c.906C>T and c.922T>G, in exon7 of NSUN7. We found relatively similar genotypes and allele frequencies between the two groups (P = 0.928, P = 0.928, respectively). The combined genotypes of the two polymorphisms did not identify a haplotype associated with asthenospermia (P = 0.824, P = 0.824, respectively). Our findings revealed that genetic polymorphisms in exon7 of the NSUN7 gene are not associated with asthenospermia in Chinese Han men.


Subject(s)
Asian People/genetics , Asthenozoospermia/genetics , Exons , Polymorphism, Single Nucleotide , Adult , Alleles , Case-Control Studies , China , Gene Frequency , Genotype , Haplotypes , Humans , Male , Middle Aged , Sequence Analysis, DNA , Young Adult
10.
Genet Mol Res ; 14(2): 3491-500, 2015 Apr 15.
Article in English | MEDLINE | ID: mdl-25966116

ABSTRACT

We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. This case-control study included 162 infertile Chinese patients with azoospermia (N = 100) or oligoasthenozoospermia (N = 62) and 120 fertile men as controls. The polymorphisms MTRR A66G, MTHFR C677T, A1298C, and MS A2756G were identified by direct DNA sequencing and the results were statistically analyzed. We found no association between the incidence of any of these variants in azoospermia patients and control populations. The frequency of the MTRR66 polymorphic genotypes (AG, AG+GG) was significantly higher in the oligoasthenozoospermia group compared to the controls (P = 0.013, 0.012). Our findings revealed an association between the single-nucleotide polymorphism A66G in the MTRR gene and male infertility, particularly in oligoasthenozoospermia males, suggesting that this polymorphism is a genetic risk factor for male infertility in Chinese men.


Subject(s)
Ferredoxin-NADP Reductase/genetics , Genetic Predisposition to Disease/genetics , Infertility, Male/genetics , Polymorphism, Single Nucleotide , Alleles , Asian People/genetics , Azoospermia/ethnology , Azoospermia/genetics , Base Sequence , Case-Control Studies , China , DNA Mutational Analysis , Gene Frequency , Genetic Predisposition to Disease/ethnology , Genotype , Humans , Infertility, Male/ethnology , Male
11.
Genet Mol Res ; 13(1): 1518-26, 2014 Mar 12.
Article in English | MEDLINE | ID: mdl-24668626

ABSTRACT

We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutations detected were then aligned with a random sample of 100 normal sequences and the NCBI sequence database in order to confirm any new mutations. Furthermore, the copy number of SOX9 was measured by fluorescence quantitative PCR. Seven of the 10 male sex reversal patients (46, XX) contained an excess copy of the SRY gene, while one of the eight female sex reversal patients (46, XY) was lacking the SRY gene. Additionally, a new mutation (T-A, Asp24Lys) was detected in one female sex reversal patient (46, XY). No other mutation was detected in the analysis of SOX9 and DAX1, with the exception of an insertion mutation (c.35377791insG) found in the testicular-specific enhancer (TESCO) sequences in an SRY-positive female sex reversal patient (46, XY). Eight of the 18 sex reversal cases (44.4%) showed obvious connections with SRY gene translocations, mutations, or deletions, which was significantly higher than that reported previously (33.3%), indicating a need to further expand the range of sample collection. Overall, these results indicated that the main mechanism of sex reversal are not associated with mutations in the coding regions of SOX9 and DAX1 or copy number variations of SOX9, which is consistent with results of previous studies.


Subject(s)
46, XX Testicular Disorders of Sex Development/genetics , DAX-1 Orphan Nuclear Receptor/genetics , Disorders of Sex Development/genetics , SOX9 Transcription Factor/genetics , SOXB1 Transcription Factors/genetics , 46, XX Testicular Disorders of Sex Development/pathology , Adult , China , DNA Copy Number Variations/genetics , Disorders of Sex Development/pathology , Female , Humans , Male , Mutation , Sex Determination Processes
12.
Genet Mol Res ; 12(3): 2215-26, 2013 Jul 08.
Article in English | MEDLINE | ID: mdl-23884765

ABSTRACT

Chromosome abnormalities, Y-chromosome microdeletions, and androgen receptor gene CAG and GGN repeat polymorphisms in infertile Chinese men featuring severe oligospermia and azoospermia were analyzed. Ninety-six fertile men and 189 non-obstructive infertile men, including 125 patients with azoospermia and 64 with severe oligozoospermia, were studied. Seventeen infertile men (9.0%) carried a chromosome abnormality. Twenty (10.6%) carried a Y-chromosome microdeletion. In the remainder of the patients and controls, GGN and CAG repeats were sequenced. Short GGN repeats (n < 23) appeared to be associated with defective spermatogenesis, with the number of GGN repeats strongly correlated with sperm counts. No significant difference in CAG repeats was found between patients and controls, nor were CAG repeats correlated with sperm counts. However, for CAG repeats ranging between 24 and 25, there was a >2.5-fold risk (OR = 2.539, 95%CI = 1.206-5.344, P < 0.05) of severe oligospermia and azoospermia. Our results confirmed the significant role of chromosome abnormalities, Y-chromosome microdeletions, and GGN repeats in Chinese male infertility.


Subject(s)
Abnormal Karyotype , Azoospermia/genetics , Chromosome Deletion , DNA Copy Number Variations , Oligospermia/genetics , Receptors, Androgen/genetics , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development , Adult , Case-Control Studies , China , Chromosomes, Human, Y , Humans , Infertility, Male , Male , Microsatellite Repeats , Middle Aged , Sperm Count , Spermatogenesis/genetics
13.
Eur J Gynaecol Oncol ; 34(2): 132-7, 2013.
Article in English | MEDLINE | ID: mdl-23781583

ABSTRACT

PURPOSE OF INVESTIGATION: The object of this study was to observe differential gene expression profiles related to human papillomavirus (HPV) associated with postoperative cervical cancer. MATERIALS AND METHODS: Three women with cervical cancer and infected with HPV 16 were selected by a genotyping method. Samples of tissue were collected from the tumor center (T), from the adjacent tumor (N), and from tissues distal to the tumors (F). Human gene expression in cervical cancers and parenchyma and normal cervical tissues was analysed using a gene expression system. RESULTS: Comparison of T vs F samples revealed 673 differentially-expressed genes and comparison of N vs F samples produced 56 differentially-expressed genes. These genes were related to signal transduction, metabolism, immunity response, protein biosynthesis, and expressed sequences tags (ESTs). CONCLUSION: Therefore the authors conclude that differences in gene expression could be seen among cervical cancers and the parenchyma and the normal cervical tissues.


Subject(s)
Cervix Uteri/metabolism , Human papillomavirus 16 , Oligonucleotide Array Sequence Analysis/methods , Papillomavirus Infections/metabolism , Transcriptome , Uterine Cervical Neoplasms/metabolism , Adult , Cell Cycle , Cyclin-Dependent Kinase 8/genetics , Female , Human papillomavirus 16/genetics , Humans , Intercellular Adhesion Molecule-1/genetics , Middle Aged , Uterine Cervical Neoplasms/virology
14.
Genet Mol Res ; 12(1): 59-66, 2013 Jan 22.
Article in English | MEDLINE | ID: mdl-23359025

ABSTRACT

The non-recombining portion of the Y-chromosome contains numerous polymorphisms; therefore, it is now the most informative haplotyping system with wide-ranging applications. Idiopathic azoospermia and oligospermia are among the most important causes of male infertility. Different haplogroups may have different genetic backgrounds, which may be either susceptible or unsusceptible to idiopathic azoospermia or oligospermia. This study investigated the possible association between Y-chromosome haplogroup distribution and susceptibility to spermatogenic impairment. Peripheral blood was collected from 193 men with normozoospermia, 193 men with idiopathic azoospermia and 105 men with idiopathic oligospermia. All of the subjects underwent karyotyping, azoospermia factor (AZF) deletion analysis by 15 AZF-specific sequence-tagged sites and Y-chromosome haplotype analysis by 17 binary markers. Excluding men with AZF deletions and abnormal karyotypes, the remainder of these 3 groups was named Group i, Group ii, and Group iii, respectively. The comparisons of 17 Y-haplogroup distributions between Group i and Group ii, Group iii or Group ii + iii were performed with the SPSS V.18.0 software. Significantly different Y-haplogroup distributions were observed between Group i and Group ii in N1* (P = 0.002), between Group i and Group iii in F*, K*, P*, and O3* (P = 0.002, 0.001, 0.004, and 0.007, respectively), and between Group i and Group ii + iii in K*, N1* and O3* (P = 0.008, 0.012, and 0.009, respectively). These results suggest that Y-chromosome haplogroups play a role in spermatogenic impairment.


Subject(s)
Asian People/genetics , Azoospermia/genetics , Chromosomes, Human, Y , Infertility, Male/genetics , Spermatogenesis/genetics , China , Chromosome Deletion , Genetic Predisposition to Disease , Haplotypes , Humans , Karyotyping/methods , Male , Oligospermia/genetics
15.
Genet Mol Res ; 12(4): 6512-20, 2013 Dec 11.
Article in English | MEDLINE | ID: mdl-24390997

ABSTRACT

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities. Additionally, patients with azoospermia, oligozoospermia, and oligoasthenozoospermia were analyzed using multiplex polymerase chain reaction to detect microdeletion in the AZF. We identified 387 patients with abnormal karyotypes, and the ratio was 7.61%. Among them were 175 patients with Klinefelter's syndrome, which was the most common numerical chromosomal abnormality and accounted for 45.22% of all chromosomal aberrations. The frequencies of increased satellites, balanced translocations, and Robertsonian translocations were 6.47, 7.00, and 3.62%, respectively. Multiplex polymerase chain reaction performed in 810 cases with azoospermia, oligozoospermia, and oligoasthenozoospermia found a ratio of AZF microdeletions of 4.94%. The finding suggests that chromosomal abnormalities and AZF deletion are main factors that result in male infertility. Detecting these common genetic variations is necessary in infertile men seeking assisted reproductive technology.


Subject(s)
Azoospermia/genetics , Infertility, Male/genetics , Klinefelter Syndrome/genetics , Oligospermia/genetics , Sex Chromosome Aberrations , China/epidemiology , Chromosomes, Human, Y/genetics , DNA-Binding Proteins/genetics , Humans , Infertility, Male/epidemiology , Karyotyping , Male , Polymerase Chain Reaction , Prenatal Diagnosis , Reproductive Techniques, Assisted , Sequence Deletion/genetics
16.
Neoplasma ; 59(6): 631-40, 2012.
Article in English | MEDLINE | ID: mdl-22862164

ABSTRACT

Nitric oxide (NO), is endogenously synthesized from L-arginine by nitric oxide synthase (NOS), exhibits a dual role in sensitivity to radiotherapy and chemotherapy of cancer cells. The aim of this study was to evaluate the influence of polymorphisms in NOS genes on treatment response of non-small-cell lung cancer (NSCLC) patients after radiochemotherapy. A cohort of 198 NSCLC patients treated with radiochemotherapy between 2009 and 2011 were included in this study. Genotyping analyses of 35 SNPs ( NOS2A, 21 and NOS3, 14) in each sample were conducted by using the Sequenom MassArray system. Unconditional logistic regression was performed to assess the association between treatment response and each genotype while adjusting or not for other covariates. Of 198 patients, 87 (43.9%) had objective responses, and 111(56.1%) did not respond. We observed no significant associations between treatment response and each genotype. While adjusting for other covariates, the associations were also not significant. Our results suggest that genetic variations within the NOS2A and NOS3 genes may not influence the treatment response in NSCLC patients with radiochemotherapy. Future studies in this problem are required to confirm our findings.


Subject(s)
Carcinoma, Non-Small-Cell Lung/therapy , Chemoradiotherapy , Lung Neoplasms/therapy , Nitric Oxide Synthase Type III/genetics , Nitric Oxide Synthase Type II/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Aged, 80 and over , Carcinoma, Non-Small-Cell Lung/genetics , Carcinoma, Non-Small-Cell Lung/pathology , Female , Genotype , Humans , Lung Neoplasms/genetics , Lung Neoplasms/pathology , Male , Middle Aged
17.
Genet Mol Res ; 10(4): 4026-33, 2011 Dec 21.
Article in English | MEDLINE | ID: mdl-22194212

ABSTRACT

Primed in situ labeling (PRINS) technique is an alternative to in situ hybridization for rapid chromosome screening. We employed triple-color PRINS technique to detect chromosomal abnormalities in Klinefelter syndrome patients diagnosed by G-banding karyotype analysis. Among 1034 infertile male patients, 134 were found to be cytogenetically abnormal, including 70 with chromosomal number abnormalities and 64 with chromosomal structure abnormalities. Among these cytogenetically abnormal patients, 56 were diagnosed as having Klinefelter syndrome. PRINS technique was used on cultured lymphocyte metaphase cells of the Klinefelter syndrome patients; the same result was obtained with G-banding karyotype analysis. PRINS proved to be a rapid and reliable method to detect numerical chromosome abnormalities in peripheral blood lymphocytes in metaphase.


Subject(s)
Chromosome Banding , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/genetics , Primed In Situ Labeling/methods , Adult , Chromosome Aberrations , Humans , Male
18.
Genet Mol Res ; 10(3): 1884-90, 2011 Aug 26.
Article in English | MEDLINE | ID: mdl-21948751

ABSTRACT

In order to analyze male sterility caused by deletion of SRY and DAZ, we examined the accuracy and cost-effectiveness of a modified primed in situ labeling (PRINS) technique for detection of single-copy genes. Peripheral blood samples were collected from 50 healthy men; medium-term cultured lymphocytes from these samples were suspended in fixative solution and then spread on clean slides. We used four primers homologous to unique regions of the SRY and DAZ regions of the human Y-chromosome and incorporated reagents to increase polymerase specificity and to enhance the hybridization signal. PRINS of SRY and DAZ gave bands at Yp11.3 and Yq11.2, respectively, in all 50 metaphase spreads. The PRINS SRY signals were as distinct as those obtained using traditional fluorescence in situ hybridization (FISH). This new method is ideal for rapid localization of single-copy genes or small DNA segments, making PRINS a cost-effective alternative to FISH. Further enhancement of PRINS to increase its speed of implementation may lead to its wide use in the field of medical genetics.


Subject(s)
Genes, sry , Infertility, Male/genetics , Primed In Situ Labeling/methods , RNA-Binding Proteins/genetics , Sex-Determining Region Y Protein/genetics , Chromosome Aberrations , Chromosomes, Human, Y/genetics , DNA Primers , Deleted in Azoospermia 1 Protein , Gene Dosage , Gonadal Dysgenesis/genetics , Humans , In Situ Hybridization, Fluorescence/methods , Lymphocytes , Male , Polymerase Chain Reaction/methods , Spermatozoa/cytology , Spermatozoa/growth & development
19.
AJNR Am J Neuroradiol ; 20(10): 1863-70, 1999.
Article in English | MEDLINE | ID: mdl-10588110

ABSTRACT

BACKGROUND AND PURPOSE: The treatment algorithm for acute cerebrovascular accidents has traditionally sorted these accidents as either hemorrhagic or nonhemorrhagic, and MR imaging, with its ability to allow expeditious assessment of vascular substrates and regional blood volume, is well suited for this purpose. Our purpose was to delineate the accuracy of MR imaging in acute, hemorrhagic forms of stroke during the time frame considered beneficial for intervention in an animal model. METHODS: Eighteen dogs with small, iatrogenic parenchymal, subarachnoid hemorrhage (SAH), or both were serially scanned over the initial 6-hour postictal period. Confirmatory pathologic specimens and 3-hour postictal CT scans were obtained in all animals. The MR and CT studies were then interpreted in a blinded fashion by two neuroradiologists for the presence of hemorrhage. The results were subjected to receiver operating characteristic analysis. RESULTS: MR imaging depicted acute parenchymal hemorrhage and SAH with a high degree of accuracy at 1.5 T. This finding was independent of each of the time points studied during the 6-hour window. For SAH, the MR accuracy for reader 1 was 0.86 (95% CI, 0.76-0.97); for reader 2, accuracy was 0.85 (95% CI, 0.71-0.99). The CT accuracy for the two readers was 0.42 (95% CI, 0.26-0.58) and 0.66 95% CI, 0.43-0.89), respectively. Fluid-attenuated inversion-recovery images improved the conspicuity of SAH on MR images and, along with spin-density-weighted spin-echo sequences, helped to establish the hemorrhagic nature. For parenchymal hemorrhage, the MR accuracy for reader 1 was 0.90 (95% CI, 0.81-0.99); for reader 2, accuracy was 0.93 (95% CI, 0.84-1.00). With CT, the accuracy of reader 1 was 0.91 (95% CI, 0.85-0.97) whereas for reader 2 accuracy was 0.76 (95% CI, 0.69-.83). Parenchymal hemorrhage detection and diagnosis was best with T2*-weighted gradient-echo images. CONCLUSION: MR imaging with appropriately selected sequences appears able to provide information regarding the presence (or absence) of hemorrhage in an acute stroke model requisite to the initiation of treatment.


Subject(s)
Cerebral Hemorrhage/diagnosis , Image Enhancement , Magnetic Resonance Imaging , Subarachnoid Hemorrhage/diagnosis , Acute Disease , Animals , Brain/pathology , Disease Models, Animal , Dogs , ROC Curve , Sensitivity and Specificity
20.
Zhongguo Yao Li Xue Bao ; 20(7): 659-62, 1999 Jul.
Article in Chinese | MEDLINE | ID: mdl-10678135

ABSTRACT

AIM: To detect inositol 1,4,5-triphosphate (IP3) formation of pregnant and nonpregnant human myometrial cells induced by acetylcholine (ACh). METHODS: [3H] IP3 competitive protein binding assay. RESULTS: Basal levels of IP3 in pregnant and nonpregnant human myometrial cells were (82 +/- 9) and (96 +/- 10) nmol.g-1 (protein), respectively (n = 6). Incubated with ACh 50 mumol.L-1 for 5 min, IP3 reached the peak levels (109 +/- 11) and (122 +/- 15) nmol.g-1 (protein), respectively (n = 6), but difference of the increments of IP3 in pregnant and nonpregnant women was not significant. The increased IP3 induced by ACh was inhibited by atropine (Atr) 1 mumol.L-1. CONCLUSION: The basal IP3 level in pregnant cervix myometrial cells was higher than that in nonpregnant women. ACh increased the IP3 formation.


Subject(s)
Acetylcholine/pharmacology , Inositol 1,4,5-Trisphosphate/biosynthesis , Myometrium/metabolism , Pregnancy/metabolism , Adult , Atropine/pharmacology , Cell Separation , Female , Humans , Muscarinic Antagonists/pharmacology , Myometrium/cytology , Oxytocin/pharmacology , Vasodilator Agents/pharmacology
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