Rhizomelic chondrodysplasia punctata type Ⅰ in a fetus due to novel pathogenic mutation in PEX7 gene / 中华围产医学杂志

We report a case of a fetus with rhizomelic chondrodysplasia punctata type Ⅰ. Ultrasound examination of the pregnant women at 23 weeks of gestation showed multiple fractures in bilateral femurs, thick metaphysis, severely short, thickened and curved bilateral humerus with multiple fracture images, some of which were callu formation after fracture. The pregnancy was terminated at 23 +2 gestational weeks, samples of fetal skin tissue were taken after birth, and parental peripheral blood was collected for whole exome sequencing, which revealed a frameshift mutation c.179delT (p.F61Lfs*13) in the PEX7 gene of chromosome 6, and the heterozygous deletion (141 kb) occurred in the region of chromosome 6 137105182-137245871, covering the pathogenic gene PEX7. The analysis of parental samples suggested that the mutations were compound heterozygous mutations, none of which had been previously reported and were determined to be pathogenic mutations. The severe clinical phenotype of this case may be caused by severe damage of PEX7 gene contributed by the frameshift mutation and large fragment deletion mutations.

A Low Temperature Plasma-assisted CataluminescenceSensor for Detection of Ethylene / 分析化学

Based on the plasma activation and the sensing ability of cataluminescence, a low temperature plasma-assisted cataluminescence sensor was developed for ethylene detection using the low-cost and abundant alkaline-earth oxides of MgO nanomaterials as the sensing materials.Taking advantage of the high activity of the plasma, the working temperature of this method was greatly decreased than that of traditional detection method (300-500℃), and the sensing of ethylene was realized at room temperature without any heating device.This ethylene cataluminescence sensor gave a linear range of 112-4997 ng/mL (90-3998 ppm, R=0.97669) with a detection limit of 37 ng/mL (30 ppm).Besides, the sensor showed good selectivity and stability in ethylene detection.Due to the absence of the heating element, the present sensor was simple, rapid, low-cost, low energy-consumption and stable for ethylene sensing.This study improved the applicability of cataluminescence sensors and might promote the development of cataluminescence sensors.

CRISPR-mediated downregulation of PD-1 expression on T cells / 中华微生物学和免疫学杂志

Objective To investigate the feasibility of using clustered regularly interspaced short palindromic repeats ( CRISPR)-mediated genome editing to downregulate the expression of programmed cell death protein 1 (PD-1) on primary T cells by using a lentivirus delivery system. Methods Lentivirus vec-tors pLentiCRISPR A1-A6 containing different PD-1 genomic DNA sequences as single guide RNA ( sgRNA) for Cas9 targeting were constructed individually. The lentivirus vectors were tranduced into primary CD4 T cells. Flow cytometry analysis was performed to detect the expression of PD-1 for evaluating the knockout ef-ficiency. Results The lentivirus vectors pLentiCRISPR A1-A6 carrying six different target sites were con-structed and respectively tranduced into primary CD4 T cells. The expression of PD-1 accompanied with the activation of T cells. Co-expression of CD25 and PD-1 was observed on activated T cells. All of the six sites could be targeted by Cas9, of which A2 and A6 sites were more efficient in knocking out the gene encoding PD-1 with a rate of 19% and 29%, respectively. Conclusion This study suggests that it is feasible to knock out the expression of PD-1 on primary T cells by using CRISPR.

Comparative study of minimally invasive versus open esophagectomy for esophageal cancer in a single cancer center / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>In order to minimize the injury reaction during the surgery and reduce the morbidity rate, hence reducing the mortality rate of esophagectomy, minimally invasive esophagectomy (MIE) was introduced. The aim of this study was to compare the postoperative outcomes in patients with esophageal squamous cell carcinoma undergoing minimally invasive or open esophagectomy (OE).</p><p><b>METHODS</b>The medical records of 176 consecutive patients, who underwent minimally invasive esophagectomy (MIE) between January 2009 and August 2013 in Cancer Institute & Hospital, Chinese Academy of Medical Sciences, were retrospectively reviewed. In the same period, 142 patients who underwent OE, either Ivor Lewis or McKeown approach, were selected randomly as controls. The clinical variables of paired groups were compared, including age, sex, Charlson score, tumor location, duration of surgery, number of harvested lymph nodes, morbidity rate, the rate of leak, pulmonary morbidity rate, mortality rate, and hospital length of stay (LOS).</p><p><b>RESULTS</b>The number of harvested lymph nodes was not significantly different between MIE group and OE group (median 20 vs. 16, P = 0.740). However, patients who underwent MIE had longer operation time than the OE group (375 vs. 300 minutes, P < 0.001). Overall morbidity, pulmonary morbidity, the rate of leak, in-hospital death, and hospital LOS were not significantly different between MIE and OE groups. Morbidities including anastomotic leak and pulmonary morbidity, inhospital death, hospital LOS, and hospital expenses were not significantly different between MIE and OE groups as well.</p><p><b>CONCLUSIONS</b>MIE and OE appear equivalent with regard to early oncological outcomes. There is a trend that hospital LOS and hospital expenses are reduced in the MIE group than the OE group.</p>

Analysis of the reason of secondary fracture after percutaneous vertebroplasty for osteoporotic vertebral compression fractures / 中国骨伤

<p><b>OBJECTIVE</b>To explore the reasons of secondary fracture after percutaneous vertebroplasty (PVP) for osteoporotic vertebral compression fractures (OVCFs) and discuss the measure of prevention and cure.</p><p><b>METHODS</b>From January 2011 to January 2013, the clinical data of 180 patients with primary OVCFs treated by PVP were retrospectively analyzed. There were 75 males and 105 females, aged from 68 to 95 years old with an average of (79.50 ± 5.45) years. The involved vertebrae were identified according to the clinical symptoms and imaging data. PVP were performed in 362 vertebrae and the patients were followed up with an average of 12 months. Subsequent vertebral fractures were found through the pain's reappearance and MRI or bone scan. The patients were divided into secondary fracture group and no-secondary fracture group according to the subsequent fractures or no. Secondary fracture group was divided into two groups according to gender, and the patients with secondary fracture were also categorized into the original surgical vertebral fractures, adjacent vertebral fracture and remote vertebral fractures. The age, gender, the cement volume, the cement leakage, secondary fracture site, the incidence and type of secondary fracture were observed and compared among different groups.</p><p><b>RESULTS</b>Among the 362 vertebrae of PVP, there were 109 vertebrae in male and 253 vertebrae in female. And 27 vertebrae (10 in male and 17 in female) of 22 cases (9 males and 13 females) occurred secondary fracture. The second PVP were performed in 13 cases (16 vertebrae) and the third PVP in 2 cases (4 vertebrae); 7 cases (7 vertebrae) were treated with conservative therapy. There was no statistically significant difference on age, gender, cement volume and leakage between secondary fracture group and no-secondary fracture group (P > 0.05). There was no statistically significant difference on the incidence and type of secondary fracture between male and female (P > 0.05). No significant difference was found on the adjacent and remote vertebral fractures (P > 0.05). Most of secondary fracture occurred in 6 months, and whether the single and double side injection, cement leakage had no obvious relation.</p><p><b>CONCLUSION</b>There is no significant difference in the subsequent fracture after PVP for the OVCFs different gender and fractured site, and also no significant difference in the adjacent and remote vertebral fractures. The report didn't support the biomechanical viewpoint that vertebral body stiffness increasing after PVP would lead to adjacent vertebral stress increasing and result easily in adjacent vertebral fracture. Secondary fracture occurs always in 6 months after operation, which is the natural course of osteoporosis.</p>

Nationwide speaking tour of standardized diagnosis and treatment for esophageal cancer / 中华胃肠外科杂志

For a long time, the diagnosis and treatment protocol for esophageal cancer has been made either entirely based on the experience of Western countries or on our own experience alone. A suitable standardized guideline for diagnosis and treatment of esophageal cancer in our country has not been established until 2010. Due to lack of opportunities for mutual exchange and learning, the overall level of standardized diagnosis and treatment was relatively low in China. In addition, less advanced technologies were applied and varying treatment protocols were implemented in different districts, the treatment results has been unsatisfactory, and the overall 5-year survival rate after surgical treatment has been maintained from 30% to 40%. Therefore, it is imperative that China needs to conduct its own clinical studies and establish its own suitable standardized treatment and diagnosis guideline for esophageal cancer. This article reviews and also made comments on the process of academic speaking tour and development of standardized diagnosis and treatment guidelines as well as the problems resolved by these activities for esophageal cancer since the beginning of this century.

Changes in the mRNA expression of adiponectin, adiponectin receptors, and leptin in adipose tissue of Wannanhua pigs at different stages of development / 中国应用生理学杂志

<p><b>OBJECTIVE</b>To explore the changes in the mRNA expression of adiponectin (Adp), adiponectin receptors(AdpR), and leptin in different adipose tissues of Wannanhua pigs at different stages of development, and their sexual dimorphism.</p><p><b>METHODS</b>Five Wannanhua boars and five Wannanhua gilts were sampled at birth, 30, 45, 90, and 180 days of age respectively. The delta delta Ct relative quantification real-time PCR was used to detect the transcription levels of Adp, AdpR1, AdpR2, and leptin mRNAs in subcutaneous (SC) and perirenal (PR) adipose tissues, and beta-actin were used as internal standards.</p><p><b>RESULTS</b>The expression level of Adp, AdpR1, AdpR2, and leptin mRNA in SC and PR adipose tissue were changed with age significantly (P < 0.01). In general, Adp mRNA expression in SC adipose tissue was significantly lower than that in PR adipose tissue (P < 0.05), while AdpR1, AdpR2, and leptin mRNA expression in SC adipose tissue were significantly higher than those in PR adipose tissue (P < 0.05 or P < 0.01). Although the sexual dimorphism were found in apart genes or apart days of age, Adp, AdpR1, AdpR2, and leptin mRNA expression both in SC adipose tissue and PR adipose tissue had no significant differences between Wannanhua gilts and boars in general. Significant positive correlation was found between Adp and AdpR1, AdpR2 (P < 0.05 or P < 0.01), and significant negative correlation was found between Adp and leptin (P < 0.05) in SC adipose tissue and PR adipose tissue respectively (P < 0.05).</p><p><b>CONCLUSION</b>The expression of Adp, AdpR1, AdpR2, and leptin mRNA in adipose tissue of Wannanhua pigs followed specific developmental patterns and tissue specificity. Adp correlated with its receptors.</p>

Comparison of the short-term outcomes of surgical treatment for non-small cell lung cancer via video assisted thoracoscopic surgery and open thoracotomy / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To compare the short-term outcomes of surgical treatment for non-small cell lung cancer (NSCLC) by video-assisted thoracoscopic surgery (VATS) and open thoracotomy (OT).</p><p><b>METHODS</b>Data of 737 consecutive NSCLC patients who underwent surgical treatment for non-small cell lung cancer by video-assisted thoracoscopic surgery and 630 patients who underwent pulmonary resection via open thoracotomy (as controls) in Cancer Institute & Hospital, Chinese Academy of Medical Sciences between January 2009 and August 2011 were retrospectively reviewed. The risk factors after lobectomy were also analyzed.</p><p><b>RESULTS</b>In the 506 NSCLC patients who received VATS lobectomy, postoperative complications occurred in 13 patients (2.6%) and one patient died of acute respiratory distress syndrome (0.2%). In the 521 patients who received open thoracotomy (OT) lobectomy, postoperative complications occurred in 21 patients (4.0%) and one patient died of pulmonary infection (0.2%). There was no significant difference in the morbidity rate (P > 0.05) and mortality rate (P > 0.05) between the VATS group and OT group. In the 190 patients who received VATS wedge resections, postoperative complications occurred in 3 patients (1.6%). One hundred and nine patients received OT wedge resections. Postoperative complications occurred in 4 patients (3.7%). There were no significant differences for morbidity rate (P = 0.262) between these two groups, and there was no perioperative death in these two groups. Univariate and multivariate analyses demonstrated that age (OR = 1.047, 95%CI: 1.004 - 1.091), history of smoking (OR = 6.374, 95%CI: 2.588 - 15.695) and operation time (OR = 1.418, 95%CI: 1.075 - 1.871) were independent risk factors of postoperative complications.</p><p><b>CONCLUSIONS</b>To compare with the NSCLC patients who should undergo lobectomy or wedge resection via open thoracotomy, a similar short-term outcome can be achieved via VATS approach.</p>

Preliminary experience of clinical applications of the 7th UICC-AJCC TNM staging system of esophageal carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To compare the instructive value of the 6th and 7th editions of the UICC-AJCC staging system in prognosis of esophageal cancer (EC) patients.</p><p><b>METHODS</b>The staging and prognosis of 1397 esophageal carcinoma patients undergoing curative resection from Jan. 2003 to Dec. 2006 in our hospital were retrospectively reviewed and analyzed according to the 6th AJCC staging system and the 7th UICC-AJCC staging system.</p><p><b>RESULTS</b>The 5-year overall survival (OS) of EC patients with curative resection was 38.5% (481/1250 cases), with a follow-up rate of 89.5% (1250/1397 case). In overall terms, both the editions were statistically significant discriminators of OS (P < 0.05). The 5-year OS of stages I, II and III patients were 64.9%, 43.5%, 25.2% according to the 6th edition, and 63.5%, 44.5%, 23.5% according to the 7th edition, respectively. Distinct differences in survival were present among patients categorized as stage Ia and Ib according to the 7th edition (P < 0.05), with a 5-year OS of 80.0% and 58.3%, respectively. Similarly, according to the 7th edition, the 5-year overall survivals (OS) of the stages IIIa, IIIb and IIIc patients were 28.2%, 18.4% and 16.7%, respectively, showing that the prognoses were significantly different (P < 0.05). In addition, according to the 7th edition, the prognoses of patients in stages N0, N1, N2 and N3 were also significantly different (P < 0.01), and the 5-year OS were 50.0%, 31.5%, 18.7% and 16.7%, respectively.</p><p><b>CONCLUSIONS</b>Both the 6th and 7th editions of UICC-AJCC staging system are significant discriminators for survival of esophageal cancer patients. The 7th edition is proved to be more accurate in prognosis. The number of lymph node metastases is an important predictor of prognosis.</p>

The outcome of surgical therapy for double primary lung cancer / 中华外科杂志

<p><b>OBJECTIVE</b>To verify the outcome and long-term survival of surgical management for double primary lung cancers.</p><p><b>METHODS</b>The clinical data of 98 patients with double primary lung cancers admitted between January 1999 and June 2009 was analyzed retrospectively. There were 72 cases of synchronous double primary lung cancers, including 54 males and 18 females with median age of onset of 66 years (37 to 79 years). Thoracic surgical procedures for 144 tumor lesions included lobectomy for 9 cases, bilobectomy for 14 cases, pneumonectomy for 6 cases, lobectomy plus wedge resection for 33 cases, double wedge resection for 9 cases, and bilobectomy plus wedge resection for 1 case. There were 26 cases of metachronous double primary lung cancers, including 20 males and 6 females. The median age for the first primary cancer was 59.5 years (38 to 73 years), for second primary cancer was 66 years (47 to 77 years). Thoracic surgical procedures for 52 tumor lesions included lobectomy for 31 cases, bilobectomy for 1 cases, wedge resection for 10 cases, and pneumonectomy for 8 cases.</p><p><b>RESULTS</b>The overall 30-day mortality was 0. Postoperative complications rate was 13.3%. All patients were followed up after the operation. Until December 2009, follow-up rate was over 90%. Five-year survival for all the patients from the time of initial diagnosis of cancer was 66.4%. Five-year survival for patients with metachronous and synchronous disease from the time of initial diagnosis of cancer was 96.2% and 43.0% (P = 0.000), respectively. Survival at 5 years for the second cancer of metachronous disease and synchronous disease was 45.9% and 43.0% (P = 0.634), respectively.</p><p><b>CONCLUSION</b>Surgical treatment for double primary lung cancer is reasonable, and the patients can make long-term survival.</p>

Analysis of prognostic factors in 1826 patients with completely resected non-small cell lung cancer / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To analyze the factors affecting the prognosis of completely resected nonsmall cell lung cancer (NSCLC), and to assess the impact of vascular invasion and TNM stage on prognosis.</p><p><b>METHODS</b>Between March 1, 1997 and March 1, 2002, a total of 1826 pathologically confirmed NSCLC patients with complete resection were enrolled in this study. The major clinical and pathological features were analyzed, and the impact of vascular invasion on prognosis was investigated. Statistical analysis was performed with SPSS software. Fisher's exact test was used to assess the correlation of vascular invasion with the other clinicopathological variables. Survival was analyzed by Kaplan-Meier method and Cox regression.</p><p><b>RESULTS</b>Of the 1826 patients, 126 were found to have vascular invasion. Univariate analysis revealed that the following factors was significantly correlated with shorter overall survival: family history of cancer, histological type, pathological stage and vascular invasion, whereas multivariate analysis confirmed that only pathological stage and vascular invasion were the significant prognostic factors with a hazard ratio of 2.80 [95% CI 1.74 - 4.86] and 4.76 [95% CI 2.38 - 6.21], respectively. The overall 5-year survival rate of this series was 57.4% for stage I, 34.2% for stage II and 18.7% for stage III (P = 0.001) ,respectively. It was 59.1% for stage I 36.2% for stage II and 20.0% for stage III for those without vascular invasion, whereas for those with vascular invasion, it was 37.5% for stage I, 24.0% for stage II and 7.0% for stage III, respectively. There was a significant difference among the patients with different TNM stage and between the patients with vascular invasion and without (P < 0.05) by log-rank test. The distant metastasis rate of the patients with vascular invasion was 69.9% versus 36.7% in those without (P < 0.001).</p><p><b>CONCLUSION</b>Our results show that TNM stage and vascular invasion are significant prognostic factors in nonsmall cell lung cancer. Vascular invasion can not only serve as an independent prognostic factor, but can also predict the possibility of metastasis.</p>

Prognostic factors for survival after lung cancer surgery in elderly patients / 中国肺癌杂志

<p><b>BACKGROUND</b>With the improvement of the surgical and anesthetic techniques, there are increasing numbers of elderly surgical patients with lung cancer. The purpose of this study is to examine the prognostic factors of surgical resection in patients more than 70 years of age.</p><p><b>METHODS</b>Data were retrospectively analyzed from 192 patients aged ≥70 years who underwent lung cancer surgery. Of these patients, 48.4% were in stage I, 20.8% in stage II, 19.3% in stage III, and 2.1% in stage IV. Patient demographics were the following: 79.2% male and 20.8% female; 21.9% ≥75 years older; and 11.5% had significant co-morbidities. Tumor characteristics: squamous cell carcinoma 49.0%, adenocarcinoma 35.9%, adenosquamous carcinoma 8.3%, small cell lung cancer 4.7%, others 2.1%.</p><p><b>OPERATIONS</b>exploration 2.1%, wedge resection 8.3%, lobectomy 72.4%, more than lobectomy 12.5%, pneumonectomy 4.7%. Of these operations, 91.1% were radical surgery. The significance of prognostic factors was assessed by univariate and multivariate COX regression analyses.</p><p><b>RESULTS</b>The total 5-year survival rate was 33.5% in this series. Age, sex, symptom and co-morbidity had no impact on survival. Multivariable COX analysis demonstrated that incomplete resection (P=0.003), advanced surgical-pathological stage (P < 0.001) and other type of the tumor (P=0.016) were significant, independent, unfavorable prognostic determinants in patients.</p><p><b>CONCLUSIONS</b>Thoracic surgery is a safe and feasible approach in elderly patients with lung cancer. Every effort should be made to detect early stage patients who might benefit from surgical treatment. Lobectomy is still the ideal surgical option for elderly patients who are able to tolerate the procedure. More limited lung surgery may be an adequate alternative in patients with associated co-morbidities.</p>

SNP767A/T of FUS2 gene and lung cancer risk in Chinese population / 中国肺癌杂志

<p><b>BACKGROUND</b>FUS2 gene locating at 3p21.3 is considered a promising candidate tumor suppressor gene. The aim of this study is to examine the difference in FUS2-767A/T polymorphism site between lung cancer patients and normal controls in Chinese population.</p><p><b>METHODS</b>The genotype FUS2-767A/T was detected in 146 lung cancer patients and 113 normal controls by PCR-SSCP method. The relationship between lung cancer risk and difference in genotypes of FUS2 gene was analysed.</p><p><b>RESULTS</b>FUS2-767A/T was significantly related to histological type (P=0.044), age of the patients with lung cancer (P=0.011) and vessel cancer embolus (P=0.031) in lung cancer group. There was no significant difference in distribution of FUS2 genotypes between lung cancer patients and normal controls (P=0.945).</p><p><b>CONCLUSIONS</b>The results suggest that the FUS2-767A/T polymorphism may be a susceptibility factor for lung cancer among Chinese population.</p>

Relationship between overexpression of the RIalpha subunit of the cAMP-dependent protein kinase and clinicopathological features of lung cancer / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To explore the relationship between the overexpression of PKA RIalpha mRNA and cliniopathological parameters in lung cancer.</p><p><b>METHODS</b>RT-PCR was used to detect the expression of PKA RIalpha mRNA in 54 cases with human lung cancer and matched normal tissues.</p><p><b>RESULTS</b>(1) The expression of PKA RIalpha mRNA was significantly higher in cancer tissue (66.7%) than in normal tissues (20.4%) (P < 0.01). (2) The expression was significantly correlated with TNM stage (P < 0.01), being increased with TNM stage. (3) The expression was significantly higher in patients with positive lymph nodes than in those with negative lymph nodes (P < 0.01). (4) There were no significant associations of PKA RIalpha mRNA expression with histological type, differentiation grade or size of the tumor.</p><p><b>CONCLUSION</b>This study indicates that the overexpression of PKA RIalpha mRNA may play an important role in the progression, metastasis and prognosis of lung cancer.</p>

Expression of different RASSF1 transcripts and its clinical significance in lung carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To evaluate the expression of three different RASSF1 transcripts and its clinical significance in lung carcinomas.</p><p><b>METHODS</b>The mRNA expression of RASSF1A, RASSF1B and RASSF1C was detected by RT-PCR in 51 human lung cancer tissues and 51 matched normal tissues.</p><p><b>RESULTS</b>1. The mRNA expression of three RASSF1 transcripts was detectable in all non-cancer tissues. However, high rate of expression loss of RASSF1A and RASSF1B existed in lung cancer tissues, which was 53.2% (2851) and 37.3% (19/51), respectively. RASSF1C was expressed in all of the tumor tissues. 2. Loss or abnormal down-regulation of RASSF1A was positively related with lymph node metastasis and TNM stage (P < 0.05) and 3. RASSF1B and RASSF1C mRNA expression was not correlated with TNM stage, histological type, differentiation grade or smoking index.</p><p><b>CONCLUSION</b>There is a significant expression difference among the three RASSF1 transcripts in lung carcinoma. RASSF1A, closely associated with lymph metastasis and TNM stage of lung carcinoma, should be a new tumor suppressor gene.</p>