OBJECTIVE: To explore the genetic etiology of a Chinese boy affected with Oculo-facio-cardio-dental syndrome (OFCD). METHODS: A child diagnosed with OFCD at West China Hospital of Sichuan University on September 21, 2024 was selected as the study subject. Clinical phenotype of the child was collected through ophthalmologic examination, cardiac ultrasonography, and X-ray imaging. Potential pathogenic variants were detected by trio-whole exome sequencing (Trio-WES). Candidate variant was validated with TA-cloning followed by Sanger sequencing. Mosaic variant was analyzed by ultra-deep sequencing (10,000-fold) and quantitative PCR. This study was approved by the Medical Ethics Committee of the West China Hospital of Sichuan University (Ethics No.: 2019-772 ). RESULTS: The proband had presented with congenital cataracts, mitosis, atrial and ventricular septal defects, dental abnormalities, and right radioulnar synostosis. His mother also exhibited congenital cataracts and dental anomalies, suggesting a diagnosis of OFCD. Trio-WES revealed an novel heterozygous 14-bp deletion (c.4724_4737del) in exon 12 of the BCOR gene in the proband. Deep sequencing identified a mosaic BCOR c.4724_4737del mutation in approximately 3.4% of peripheral leukocytes from his mother. Quantitative PCR analysis also confirmed the presence of this low-level mosaicism. The 14-bp deletion was predicted to cause a frame shift and premature termination (p.Met1575AsnfsTer6). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2+PP1). CONCLUSION Above findings have expanded the spectrum of BCOR mutations associated with OFCD, which highlighted the role of low-level mosaicism with maternal transmission and provided a basis for genetic counseling and reproductive guidance for the family.
Humans ; Male ; Repressor Proteins/genetics* ; Proto-Oncogene Proteins/genetics* ; Tooth Abnormalities/genetics* ; Eye Abnormalities/genetics* ; Microphthalmos/genetics* ; Child ; Sequence Deletion ; Female ; Cataract/congenital* ; Heart Septal Defects

Objective:To investigate and evaluate the efficacy of HeartCon left ventricular assist device (LVAD) in the treatment of adult patients with end-stage heart failure (ESHF).Methods:A prospective and observational study was conducted. Patients with ESHF who underwent LVAD implantation in the department of cardiac surgery of Teda International Cardiovascular Hospital from September 2020 to August 2021 were selected. The left ventricular end-diastolic diameter (LVEDD), left ventricular ejection fraction (LVEF), New York Heart Association (NYHA) classification, N-terminal pro-B type natriuretic peptide (NT-proBNP), and six minute walk distance (6MWD) before operation and 90 days after operation were compared. The incidence of equipment failures and major adverse events within 90 days after operation were recorded.Results:A total of 20 patients with ESHF were included, with 15 males and 5 females. Patients' age ranged from 20 to 67 years old, with an average of (50.2±13.6) years old. The range of body weight was 49.8-106.1 kg, with an average of (67.9±15.5) kg, and the body surface area (BSA) was from 1.49 to 2.32 m 2, with an average of (17.6±0.22) m 2. The operation process of all the patients were successful. The length of hospital stay ranged from 33 to 90 days, and the average was 56.0 (42.8, 75.0) days. Complications within 90 days after operation as follows, 2 cases with pericardial tamponade (10%), 1 case with cerebral hemorrhage (5%), 1 case with mediastinum infection (5%), 3 cases with acute renal injury (AKI, 15%), 5 cases with gastrointestinal bleeding (25%). There were no mechanical failure of LVAD and hemolysis events, right ventricular failure (RVF), cerebral infarction and death occurred. Compared with preoperative, the LVEDD significantly decreased (mm: 67.50±13.98 vs. 77.40±9.73), LVEF significantly increased (%: 34.80±9.76 vs. 22.70±5.62), NT-proBNP significantly decreased (ng/L: 2 028.65±1 752.05 vs. 4 796.45±4 355.40), 6MWD significantly increased (m: 385.20±144.12 vs. 85.81±63.50) at 90 days after operation, and the differences were statistically significant (all P < 0.05). 18 cases (90%) of the 20 patients reached NYHA classification Ⅰ and 2 cases (10%) reached NYHA classification Ⅱ, which were significantly improved compared with those before surgery (all patients' NYHA classification were Ⅳ before surgery). Conclusion:HeartCon LVAD can effectively improve the life quality of patients with ESHF, which has been proved safe and effective in clinical trials, but its long-term effects and complications need further observation and study.

Objective To evaluate the use of three-dimensional reconstruction (3D) to improve the success rate in the first attempt of radiofrequency ablation (RFA) for small hepatocellular carcinoma (HCC).Methods A retrospective study was conducted on 109 patients with small HCC (with single nodule from 3 to 5 cm in diameter) treated with radiofrequency ablation between June 2010 and June 2013.A safe ablation margin was evaluated before and after radiofrequency ablation.The patients were divided into two groups: the 3D-RFA group (49 patients were evaluated by three-dimensional reconstruction before RFA treatment) and the 2D-RFA group (60 patients were not evaluated by three-dimensional reconstruction before RFA treatment).The success rate of the first attempt of radiofrequency ablation, recurrence free survival, overall survival and complications were compared between the two groups.Results The success rate of first ablation reached 95.9％ (47/49) in the 3D-RFA group which was significantly higher than the 48.3％ (29/60) in the 2D-RFA group (P ＜ 0.05).The local tumor progression rate was 8.1％ in the 3D-RFA group versus 23.3％ in the 2D-RFA group (P ＜0.05).The 1-, 2-, 3-year recurrence free survival rates were 85.4％, 63.9％, and 49.8％ respectively in the 3D-RFA group and 72.4％, 43％, and 34.4％ respectively in the 2D-RFA group (P ＜ 0.05).The 1-, 2-, 3-year overall survival rates were 91.4％,78.4％, and 60.9％ respectively in the 3D-RFA group and 83.3％, 58.7％, and 40.9％ respectively in the 2D-RFA group (P ＜0.05).Complications occurred significantly less in the 3D-RFA group (4％, 2/49) than the 2D-RFA group (13.3％, 8/60;P ＜ 0.05).Conclusion Three-dimensional reconstruction improved the success rate of the first attempt of radiofrequency ablation and the prognosis of patients, and with less complications for small hepatocellular carcinoma.

Objective To discuss the effect of G-protein-coupled receptor 49 (GPR49)gene on proliferation and invasive ability of hepatoma cell line Huh7 and its molecular biological mechanism.Methods According to the different transfected small interfering RNA(si-RNA),Huh7 cells were divided into the GPR49-siRNA(si-GPR49)group and the NC-siRNA (si-NC)group.Untransfected Huh7 cells were set as the control group. Messenger RNA (mRNA )and protein expression of GPR49, cyclin D1 and matrix metalloproteinase 9 (MMP9)in the cells of the three groups were respectively detected by reverse transcription-polymerase chain reaction (RT-PCR)and Western blot method.The proliferation and invasive ability of the cells of each group were respectively detected by MTT method and Transwell method.Results The relative expression of GPR49 mRNA of the si-GPR49 group was (23.8 ±3.1)% of the control group (P <0.05). Compared with the control group,the protein expression of GPR49,cyclin D1 and MMP9 of the si-GPR49 group decreased significantly (all in P <0.05).The proliferation experiment results by MTT indicated that the optical density(OD)of the cells of the si-GPR49 group at 72 h was (0.53 ±0.12),which was significantly lower than that of the control group (1.35 ±0.28).The difference had statistical significance (P <0.05). The average invaded cell counts of the si-GPR49 group were (13.6 ±2.5),which was significantly lower than (65.3 ±6.1 )of the control group.The difference had statistical significance (P <0.05 ).Conclusions GPR49-siRNA may inhibit the gene expression of GPR49 in Huh7 cells.Its mechanism may be that the proliferation of Huh7 cells is inhibited by reducing the level of cyclin D1;the migration and invasive ability of Huh7 cells is inhibited by affecting the expression level of MMP9.

ObjectiveTo investigate the expression of human voltage-gated proton channel 1 (HVCN1) in hepatocellular carcinoma (HCC) and its significance in survival and prognosis after radical hepatectomy.MethodsClinical data of 92 patients with HCC undergoing radical hepatectomy in the Cancer Center of Guangzhou Medical University between August 2008 and December 2009 were retrospectively studied. The HCC ard para-carcinoma tissues were chosen and studied. Among the 92 patients, 82 were males and 10 were females with the average age of (51±12) years old. The informed consents of all patients were obtained and the local ethical committee approval had been received. HVCN1 expression in HCC and para-carcinoma tissues was detected by immunohistochemistry. HVCN1 expression in HCC tissues was observed and the correlation between the positive expression of HVCN1 and clinicopathological parameters was analyzed. In addition, the survival and prognosis of HCC patients as well as the influencing factors were also analyzed. The analysis on the correlation between the expression of HVCN1 and clinicopathological parameters was conducted using Chi-square test or Fisher's Exact Test. The survival analysis was conducted using Kaplan-Meier method and Log-rank test. The analysis on influencing factors of survival and prognosis was conducted using Cox Proportional Hazard Regression Model.Results The positive expression of HVCN1 in HCC tissues was 29% (27/92), which was significantly higher than 12% (5/40) of that in para-carcinoma tissues (χ2=2.076,P<0.05). High HVCN1 expression in HCC tissues was correlated with tumor capsule (P<0.05), vascular invasion (χ2=4.937,P<0.05) and early postoperative recurrence (χ2=8.081,P<0.05). The 1-, 3-, 5-year accumulated survival rate was respectively 81.5%, 41.0%, 29.3% for patients with positive HVCN1 expression, and 92.1%, 61.0%, 61.0% for patients with negative HVCN1 expression. The overall survival rate of patients with positive HVCN1 expression was significantly lower than that of patients with negative HVCN1 expression (χ2=8.226,P<0.05). The 1-, 3-, 5-year disease-free survival rate was respectively 51.9%, 13.5%, 13.5% for patients with positive HVCN1 expression and 70.6%, 34.0% and 34.0% for patients with negative HVCN1 expression. The disease-free survival rate of patients with positive HVCN1 expression was significantly lower than that of patients with negative HVCN1 expression (χ2= 5.302,P<0.05). Multivariate Cox regression analysis showed that positive HVCN1 expression and liver cirrhosis were the independent risk factors affecting the survival and prognosis of patients with HCC after radical hepatectomy (RR=2.520,2.408;P<0.05).Conclusions High HVCN1 expression in HCC tissues was correlated with tumor capsule, vascular invasion and early postoperative recurrence, and is the independent risk factor affecting the survival and prognosis of patients with HCC after radical hepatectomy, which can be used as the predictive index for patients with HCC after radical hepatectomy.

OBJECTIVETo compare the long-term outcomes of Billroth-I and Roux-en-Y reconstruction after distal gastrectomy.

METHODSClinical data of 151 patients with gastric cancer undergoing distal gastrectomy in the Affiliated Oncologic Hospital of Guangzhou Medical University between June 2000 and June 2010 were analyzed retrospectively. Reconstruction was performed with Billroth-I in 87 patients (B-I group) and Roux-en-Y in 64 (R-Y group). All the patients were followed up for at least 3 years. Three years after operation, clinical symptoms, endoscopic findings, nutritional status, gallstone formation, and late gastrointestinal complications were compared between the two groups.

RESULTSThree years after operation, gastroesophageal reflux symptoms were found in 10 patients (11.5%) in B-I group and in 3 (4.7%) in R-Y group, and dumping syndrome was diagnosed in 8 patients (9.2%) in B-I group and in 3 (4.7%) in R-Y group, but the differences between the two groups were not statistically significant (both P>0.05). Endoscopic examination showed that the amount of residue in the gastric stump, remnant gastritis-reflux esophagitis, and bile reflux in R-Y group were better as compared to B-I group (all P<0.05). Body weight, serum albumin level, and total cholesterol level were similar in the two groups (all P>0.05). The incidences of gallstone formation and late gastrointestinal complications did not differ between B-I group and R-Y group (13.2% vs. 15.8%, and 8.0% vs. 4.7% respectively, both P>0.05).

CONCLUSIONAs compared with Billroth-I, Roux-en-Y is associated with better long-term outcomes in terms of less remnant gastritis-reflux esophagitis and less bile reflux into the gastric remnant.

Aged ; Anastomosis, Roux-en-Y ; Female ; Follow-Up Studies ; Gastrectomy ; Gastroenterostomy ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Stomach Neoplasms ; surgery ; Treatment Outcome

Objective To compare the long-term outcomes of Billroth-Ⅰ and Roux-en-Y reconstruction after distal gastrectomy. Methods Clinical data of 151 patients with gastric cancer undergoing distal gastrectomy in the Affiliated Oncologic Hospital of Guangzhou Medical University between June 2000 and June 2010 were analyzed retrospectively . Reconstruction was performed with Billroth-Ⅰ in 87 patients (B-Ⅰgroup) and Roux-en-Y in 64 (R-Y group). All the patients were followed up for at least 3 years. Three years after operation, clinical symptoms, endoscopic findings, nutritional status , gallstone formation , and late gastrointestinal complications were compared between the two groups. Results Three years after operation, gastroesophageal reflux symptoms were found in 10 patients (11.5%) in B-Ⅰ group and in 3 (4.7%) in R-Y group , and dumping syndrome was diagnosed in 8 patients (9.2%) in B-Ⅰ group and in 3 (4.7%) in R-Y group, but the differences between the two groups were not statistically significant(both P>0.05). Endoscopic examination showed that the amount of residue in the gastric stump, remnant gastritis-reflux esophagitis, and bile reflux in R-Y group were better as compared to B-Ⅰ group(all P<0.05). Body weight, serum albumin level, and total cholesterol level were similar in the two groups (all P>0.05). The incidences of gallstone formation and late gastrointestinal complications did not differ between B-Ⅰgroup and R-Y group (13.2% vs. 15.8%, and 8.0% vs. 4.7% respectively, both P>0.05). Conclusion As compared with Billroth-Ⅰ, Roux-en-Y is associated with better long-term outcomes in terms of less remnant gastritis-reflux esophagitis and less bile reflux into the gastric remnant.

Objective To compare the long-term outcomes of Billroth-Ⅰ and Roux-en-Y reconstruction after distal gastrectomy. Methods Clinical data of 151 patients with gastric cancer undergoing distal gastrectomy in the Affiliated Oncologic Hospital of Guangzhou Medical University between June 2000 and June 2010 were analyzed retrospectively . Reconstruction was performed with Billroth-Ⅰ in 87 patients (B-Ⅰgroup) and Roux-en-Y in 64 (R-Y group). All the patients were followed up for at least 3 years. Three years after operation, clinical symptoms, endoscopic findings, nutritional status , gallstone formation , and late gastrointestinal complications were compared between the two groups. Results Three years after operation, gastroesophageal reflux symptoms were found in 10 patients (11.5%) in B-Ⅰ group and in 3 (4.7%) in R-Y group , and dumping syndrome was diagnosed in 8 patients (9.2%) in B-Ⅰ group and in 3 (4.7%) in R-Y group, but the differences between the two groups were not statistically significant(both P>0.05). Endoscopic examination showed that the amount of residue in the gastric stump, remnant gastritis-reflux esophagitis, and bile reflux in R-Y group were better as compared to B-Ⅰ group(all P<0.05). Body weight, serum albumin level, and total cholesterol level were similar in the two groups (all P>0.05). The incidences of gallstone formation and late gastrointestinal complications did not differ between B-Ⅰgroup and R-Y group (13.2% vs. 15.8%, and 8.0% vs. 4.7% respectively, both P>0.05). Conclusion As compared with Billroth-Ⅰ, Roux-en-Y is associated with better long-term outcomes in terms of less remnant gastritis-reflux esophagitis and less bile reflux into the gastric remnant.

Objective To investigate the expression of cell cycle checkpoint kinase 1 (Chk1) and its impact on the invasion capacity of hepatocellular carcinoma (HCC). Methods Samples of HCC tissues and adjacent non-tumor tissues from 127 patients undergoing radical hepatectomy in Cancer Center of Guangzhou Medical University from June 2005 to June 2010 were collected. The informed consents of all patients were obtained and the ethical committee approval was received. The patients included 116 males and 11 females with age ranging from 23 to 77 years old and a median age of 50 years old. The expression of Chk1 was detected by immunohistochemistry, and Transwell cell invasion assay was performed using HCC cells Huh7 and MHCC-97H. The experiment was divided into two groups. Chk1 small-molecule inhibitor G?6976 was added in Chk1 inhibitor group (inhibitor group). Dimethyl sulfoxide (DMSO, 0.1%) was added in control group. The expression of Chk1 in HCC tissues and adjacent non-tumor tissues, the relation between Chk1 expression and clinicopathological indicators were observed. The difference of cell-membrane penetrating count in two groups was compared using t test. The comparison of rates was conducted using Chi-square test. Results The positive rate of Chk1 in HCC tissues [80.3%(102/127)] was signiifcantly higher than that in adjacent non-tumor tissues [15.0%(19/127)] (χ2=108.700, P<0.05). High expression of Chk1 was observed in HCC tissues of patients with multiple tumors, non-coating tumors or early tumor recurrence after operation (χ2=6.289, 4.713, 5.039;P<0.05). The cell-membrane penetrating counts of HCC cells Huh7 and MHCC-97H in inhibitor group (127±8, 136±10) were signiifcantly lower than those in control group (174±11, 188±13) ( t=-3.402,-3.136;P<0.05). Conclusions High expression of Chk1 can be observed in HCC tissues. It’s associated with the invasion and metastasis of HCC. The Chk1 inhibitor can effectively suppress the invasion capacity of HCC cells.

Objective To evaluate laparoscopic continuous circulatory hyperthermic intraperitoneal chemotherapy (CHIPC) in the treatment of malignant ascites from peritoneal carcinomatosis.Methods From March 2006 to March 2008, 21 patients of malignant ascites secondary to peritoneal carcinomatosis received CHIPC with three courses of treatment for each patient. The first course was performed in operation room under general anesthesia, the second and third were performed in patients ward or intensive care unit (ICU), NS solution of mitomycin-C and cisplatin was delivered by continuous circulatary perfusion into peritoneal cavity at a rate of 500 ml/min for 90 min with an inflow temperature of 43 degrees C. Results Intraoperative course was uneventful in all cases, and mean operative time was (80 ± 18) min. There was no postoperative deaths and severe complications. After treatment patients KPS KPS (Karnofsky,KPS)grades rose from 10-40, with an average rise of (22.2 ± 2.4) (P ＜ 0.01). After laparoscopic CHIPC, clinical complete regression of ascites and related symptoms was achieved in 19 patients, and partial remission achieved in 2 patients. Follow-up was made to all patients until the death which occurred at post laparoscope-assisted CHIPC 1 - 9 months, with a median survival time of 6 months.Two patients who underwent partial remission suffered from port site seeding and tumor metastasis leading to death after treatment at 1 and 2 months respectively. Conclusions Laparoscopy-assisted CHIPC is effective for the treatment of malignant ascites from inoperable peritoneal carcinomatosis and improves the quality of life of these patients.