Objective:The transjugular or transfemoral approach is used as a common method for hepatic venous pressure gradient (HVPG) measurement in current practice. This study aims to confirm the safety and effectiveness of measuring HVPG via the forearm venous approach.Methods:Prospective recruitment was conducted for patients with cirrhosis who underwent HVPG measurement via the forearm venous approach at six hospitals in China and Japan from September 2020 to December 2020. Patients' clinical baseline information and HVPG measurement data were collected. The right median cubital vein or basilic vein approach for all enrolled patients was selected. The HVPG standard process was used to measure pressure. Research data were analyzed using SPSS 22.0 statistical software. Quantitative data were used to represent medians (interquartile ranges), while qualitative data were used to represent frequency and rates. The correlation between two sets of data was analyzed using Pearson correlation analysis.Results:A total of 43 cases were enrolled in this study. Of these, 41 (95.3%) successfully underwent HVPG measurement via the forearm venous approach. None of the patients had any serious complications. The median operation time for HVPG detection via forearm vein was 18.0 minutes (12.3~38.8 minutes). This study confirmed that HVPG was positively closely related to Child-Pugh score ( r = 0.47, P = 0.002), albumin-bilirubin score ( r = 0.37, P = 0.001), Lok index ( r = 0.36, P = 0.02), liver stiffness ( r = 0.58, P = 0.01), and spleen stiffness ( r = 0.77, P = 0.01), while negatively correlated with albumin ( r = -0.42, P = 0.006). Conclusion:The results of this multi-centre retrospective study suggest that HVPG measurement via the forearm venous approach is safe and feasible.

Background and Aims:In the era of minimally invasive surgery,the role of pancreatic tumor enucleation(PTE)in treating benign or low-grade malignant tumors is gaining attention.The Da Vinci robot offers advantages such as enhanced visualization and flexible instrument manipulation,which can ensure the safe implementation of PTE.However,whether robotic pancreatic tumor excision(RPTE)is superior to laparoscopic pancreatic tumor enucleation(LPTE)remains undetermined.Therefore,this study was performed to explore this aspect. Methods:The clinical data of 38 patients who underwent surgical treatment for benign or low-grade malignant tumors in the Third Xiangya Hospital of Central South University from April 2020 to May 2024 were collected.Among them,18 cases underwent RPTE(RPTE group),and 20 cases underwent LPTE(LPTE group).Relevant clinical variables were compared between the two groups,and subgroup comparisons were further conducted for patients with tumors in the head and neck/body/tail of the pancreas. Results:The average operative time for the entire group was 125 min,with an average intraoperative blood loss of 67.89 mL,and no C-grade pancreatic fistula occurred.The incidence rates of B-grade pancreatic fistula,postoperative bleeding,and readmission were 39.5％,21.1％,and 18.4％,respectively,with an average postoperative hospital stay of 11.44 d.Overall,the RPTE group had shorter operative time and less intraoperative blood loss than the LPTE group(both P＜0.05).There were no statistically significant differences between the two groups regarding the incidence of B-grade pancreatic fistula,intraoperative bleeding,readmission rate,and postoperative hospital stay(all P＞0.05).Subgroup analysis showed that for patients with head tumors,the RPTE group had shorter operative time,less intraoperative blood loss,and a lower incidence of postoperative bleeding than the LPTE group(all P＜0.05).However,the differences in the incidence of B-grade pancreatic fistula,readmission rate,and postoperative hospital stay were not statistically significant(all P＞0.05).In patients with neck/body/tail tumors,the RPTE group also had shorter operative time and less intraoperative blood loss(both P＜0.05),but the differences in incidence of B-grade pancreatic fistula,incidence of postoperative bleeding,readmission rate,and postoperative hospital stay were not statistically significant(all P＞0.05). Conclusion:Minimally invasive PTE for the treatment of benign or low-grade malignant pancreatic tumors is safe.Compared to LPTE,RPTE can significantly reduce operative time and intraoperative blood loss and shows certain advantages in reducing postoperative complications,particularly for patients with head tumors.However,the conclusion of this study needs to be confirmed by larger prospective studies.

Objective:To investigate the correlation between FCER2（2206A>G） gene polymorphism and the efficacy of inhaled corticosteroids（ICS） in patients with chronic rhinosinusitis（CRS）. Methods:A total of 208 CRS patients were routinely treated with functional endonasal sinus surgery and postoperative ICS. DNA extraction, PCR amplification and gene sequencing were performed to observe the FCER2（2206A>G） gene polymorphism and calculate the allele frequency. The visual analog scale（VAS） score, Lund-Kennedy score, and computed tomography（CT） Lund-Mackay score were determined 6 months after surgery among patients with different genotypes. Moreover, the polymorphism frequency was compared among different subgroups（chronic rhinosinusitis with nasal polyps versus chronic rhinosinusitis without nasal polyps, eosinophilic chronic rhinosinusitis versus non-eosinophilic chronic rhinosinusitis）. Results:There were FCER2（2206A>G） gene polymorphism in patients with CRS, and the phenotypes included 3 genotypes, AA, AG and GG, with distribution frequencies of 68（32.7%）, 116（55.8%） and 24（11.5%） cases, respectively. No significant differences were found in age, VAS score, nasal endoscopic Lund-Kennedy score and CT imaging Lund-Mackay score among patients with CRS of each genotype before surgery. In patients with the AA genotype, the changes in VAS score（5.74±1.10）, Lund Kennedy score（5.92 ± 1.14）, and CT imaging Lund-Mackay score（13.26±4.26） were significantly higher than in patients with the AG（4.37±0.86, 5.37±1.24, 10.82±3.77） and GG（4.26±0.80, 5.18±1.56, 10.10±3.53） genotype（P<0.05）. However, there were no marked difference between patients with the AG genotype and those with the GG genotype（P>0.05）. Compared with patients with non-eosinophilic sinusitis, Among them, the differences between the GG genotype and AG /AA genes were more significant in eosinophilic sinusitis compared to non-eosinophilic sinusitis（P<0.01）. Conclusion:The FCER2（2206A>G） gene in patients with CRS has genetic polymorphism and is associated with the recovery of CRS patients after surgery, individual corticosteroid sensitivity, and subgroup variability.
Humans ; Nasal Polyps/complications* ; Rhinitis/complications* ; Sinusitis/complications* ; Adrenal Cortex Hormones/therapeutic use* ; Polymorphism, Genetic ; Endoscopy/methods* ; Chronic Disease ; Receptors, IgE ; Lectins, C-Type

Objective:To investigate the classification of main pancreatic duct and treatment strategy after linear stapler closure of pancreatic neck in laparoscopic pancreaticoduodenectomy (LPD).Methods:The records of 51 consecutive patients with LPD who were treated by linear staple closure technique of pancreatic neck from February to December 2022 from Binzhou Second People′s Hospital, Shijingshan Campus, Beijing Chaoyang Hospital, Capital Medical University, Rizhao Hepatobiliary-Pancreatic-Splenic Surgery Research Institute, Chaoyang Central Hospital, Shandong Juxian People′s Hospital, Weihai Municipal Hospital, Binzhou Central Hospital, and Affiliated Hospital of Chifeng University were retrospectively reviewed. According to the visibility, position and diameter of the main pancreatic duct at the stump of the pancreas, the type of main pancreatic duct was divided into type I, type Ⅱ, type Ⅲa and type Ⅲb. The number of cases in each main pancreatic duct classification and the corresponding treatment strategies were examined.Results:A total of 51 cases of LPD were successfully completed. Of these patients, the males comprised 56.9%(29/51), and females comprised 43.1%(22/51), with age ranging from 31 to 88 years old. The type of the main pancreatic duct at the stump of the pancreas included 7 cases (13.7%) of type Ⅰ, 39 cases (76.5%) of type Ⅱ, 2 cases (3.9%) of type Ⅲa, and 3 cases (5.9%) of type Ⅲb. Corresponding treatment strategies were adopted according to different main pancreatic duct types, the main pancreatic duct was successfully found, and a support drainage tube was inserted.Conclusion:After linear stapler closure of pancreatic neck, corresponding treatment strategies should be adopted according to the classification of the main pancreatic duct, which would help to improve the success rate of finding the main pancreatic duct and placing a support drainage tube.

OBJECTIVE: To explore the genetic basis for a child featuring complex cortical dysplasia and other brain malformations (CDCBM3). METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out for the family trio. Suspected variant was verified by Sanger sequencing. RESULTS: The proband, a 1-year-and-2-month old Chinese boy, had presented with motor developmental delay, lissencephaly, severe cognitive impairments, absent speech and congenital laryngomalacia. WES revealed that he has harbored a heterozygous missense variant of the KIF2A gene, namely NM_001098511.2: c.952G>A, p.Gly318Arg (GRCh37/hg19). The highly conserved residue is located around the ATP nucleotide-binding pocket in the kinesin motor domain (PM1). The variant was not found in the Genome Aggregation Database and the 1000 Genomes Project (PM2), and was predicted to be deleterious on the gene product by multiple in silico prediction tools (PP3). This variant was unreported previously and was de novo in origin (PS2). Based on the ACMG guidelines, it was categorized as likely pathogenic (PS2+PM1+PM2+PP3). Furthermore, the congenital laryngomalacia found in our patient was absent in previously reported CDCBM3 cases. CONCLUSION The novel variant of the KIF2A gene probably underlay the disorders in the proband. Above finding has expanded the phenotypic and mutational spectrum of CDCBM3.
Asians/genetics* ; Brain ; China ; Humans ; Infant ; Kinesins/genetics* ; Male ; Malformations of Cortical Development/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the genotype-phenotype correlation of a case with GM1-gangliosidosis caused by compound heterogenic variants in GLB1. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Trio-based whole-exome sequencing (WES) was performed for the family and suspected mutation was verified by Sanger sequencing. RESULTS: The proband, a 2-year-3-month old Chinese girl, presented with psychomotor deterioration, absent speech, intellectual disabilities and behavior problem. Trio-based WES has identified compound heterozygosity for 2 variants in the GLB1 gene: NM_000404.2:c.1343A>T, p.Asp448Val and c.1064A>C, p.Gln355Pro (GRCh37/hg19),which was inherited from the mother and father, respectively. Homozygous or compound heterozygous pathogenic variants in GLB1, encoding β-galactosidase, are responsible for GM1-gangliosidosis,an autosomal recessive lysosomal storage disorder characterized by variable degrees of neurodegeneration and skeletal abnormalities. The p.Asp448Val variant has been classified as pathogenic for GM1 gangliosidosis in medical literatures for the reason that functional studies demonstrated that expression of the p.Asp448Val variant in COS-1 cells resulted in no detectable β-galactosidase activity compared to wild type GLB1. The p.Gln355Pro variant has not been reported in literatures or database. The variant is highly conserved residue (PM1), and was not found in either the Genome Aggregation Database or the 1000 Genomes Project (PM2) and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3). Next, the β-galactosidase activity of the patient's peripheral blood leukocytes was determined by fluorescent method. The result was 0.0 nmol/mg. It showed that the p.Gln355Pro variant also resulted in loss of β-galactosidase activity, thus the variant was classified into clinical pathogenic variant. CONCLUSION Our study expands the mutational spectrum of the GLB1 gene and provides genetic counseling for the family.
Asians/genetics* ; China ; Female ; G(M1) Ganglioside ; Gangliosidosis, GM1/genetics* ; Humans ; Mutation ; beta-Galactosidase/genetics*

OBJECTIVE: To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene. METHODS: Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing. RESULTS: The proband, a 3-year-and-2-month-old Chinese girl, presented with distinctive facial features, cognitive impairment, mild developmental delay, dermatoglyphic abnormalities, minor skeletal anomalies, ventricular septal defect, and autistic behavior. Trio-based WES revealed that the proband has carried a de novo mosaic frameshit variant of the KMT2D gene, namely NM_003482.3:c.13058delG (p.Pro4353Argfs*31) (GRCh37/hg19), for which the mosaicism rate was close to 21%. The variant was unreported previously and was confirmed by Sanger sequencing. Chromosomal microarray analysis (CMA) has revealed no pathogenic or likely pathogenic copy number variations. Compared with previously reported cases, our patient has presented obvious behavior anomalies including autism, anxiety and sleep problems, which were rarely reported. CONCLUSION This study has expanded the spectrum of KMT2D gene variants, enriched the clinical phenotypes of KS1, and facilitated genetic counseling for the family.
Abnormalities, Multiple ; China ; DNA Copy Number Variations ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Female ; Hematologic Diseases ; Humans ; Infant ; Neoplasm Proteins/genetics* ; Phenotype ; Vestibular Diseases

Since the outbreak of Corona Virus Disease 2019 occurred in December 2019, the reduction of population mobility has curbed the spread of the epidemic to some extent but also prolonged the waiting time for the treatment of patients with gastric cancer. Based on fully understanding the different staging characteristics of gastric cancer, clinical departments should develop reasonable out-of-hospital management strategies. On one hand, reasonable communication channels should be established to allow patients to receive adequate guidance out of the hospital. On the other hand, shared decisions with patients should be made to adjust treatment strategies, and education on viral prevention should be implemented to minimize the impact of the epidemic on tumor treatment.

Objective The objective is to probe into the effects of astragaloside Ⅳ (AS-Ⅳ) on activity and proliferative function of endothelial progenitor cells (EPCs),which lays a foundation for further study on the effects of AS-Ⅳ on vascular neovascularization mediated by endothelial progenitor cells.Methods The mononuclear cells were isolated by the density gradient centrifugation in umbilical cord blood of full-term healthy infants,and EPCs were obtained by subculture and cell identification when the cells presented spindle shapes.The obtained EPCs were randomly divided into the experimental group and the control group.In the experimental group,EPCs were cultured by AS-Ⅳ with different concentration gradients (25 mg/L,50 mg/L,100 mg/L,200 mg/L and 400 mg/L),while in the control group,they were treated with the same amount of phosphate buffer saline (PBS) solutions.The effects of AS-Ⅳ on the proliferation of endothelial progenitor cells was studied by cell counting kit-8 (CCK-8) cell proliferation experiment,and the activity rate of EPCs cells was measured at the optimum concentration of EPCs proliferation.Results EPCs were successfully obtained after confirming nuclear staining test of CD31 antibody and 4',6-diamidi-no-2-phenylindole (DAPI).Further study showed that AS-Ⅳ can promote the proliferation of EPCs,and its optimal concentration of EPCs proliferation is 100 mg/L.Compared with the normal control group,the activity rate of endothelial progenitor cells after intervention of AS-Ⅳ was 98.7％,higher than 98.12％ in the control group,with significant difference (x2 =49.59,P ＜0.01).Conclusions AS-Ⅳ can enhance the activity of human EPCs and promote their proliferation in vitro.

OBJECTIVETo compare the short-term safety and costs between laparoscopic assisted or totally laparoscopic uncut Roux-en-Y and Billroth II((BII() + Braun reconstruction after radical gastrectomy of distal gastric cancer.

METHODSClinical data from our prospective database of radical gastrectomy were systematically analyzed. The patients who underwent laparoscopic gastrectomy with uncut Roux-en-Y or BII(+ Braun reconstruction between March 1st, 2015 and June 30th, 2017 were screened out for further analysis. Both the reconstructions were completed by linear staplers. Uncut Roux-en-Y reconstruction was performed with a 45 mm no-knife linear stapler (ATS45NK) on the afferent loop below the gastrojejunostomy. Continuous variables were compared using independent samples t test or Mann-Whitney U. The frequencies of categorical variables were compared using Chi-squared or Fisher exact test.

RESULTSEighty-one patients were in uncut Roux-en-Y group and 58 patients were in BII(+Braun group. There were no significant differences between uncut Roux-en-Y group and BII(+Braun group in median age (56.0 years vs. 56.5 years, P=0.757), gender (male/female, 52/29 vs. 46/12, P=0.054), history of abdominal surgery (yes/no, 10/71 vs. 4/54, P=0.293), neoadjuvant chemotherapy (yes/no, 21/60 vs. 11/47, P=0.336), BMI (thin/normal/overweight/obesity, 2/49/26/3 vs. 3/39/14/2, P=0.591), NRS 2002 score (1/2/3/4, 58/15/5/3 vs. 47/5/3/3, P=0.403), pathological stage (0/I(/II(/III(, 3/41/20/17 vs. 1/28/13/16, P=0.755), median tumor diameter in long axis (2.5 cm vs. 3.0 cm, P=0.278), median tumor diameter in short axis (2.0 cm vs. 2.0 cm, P=0.126) and some other clinical and pathological characteristics. There were no significant differences between uncut Roux-en-Y group and BII(+Braun group in morbidity of postoperative complication more severe than grade I([12.3% (10/81) vs. 17.2% (10/58), P=0.417], morbidity of anastomotic complication [1.2%(1/81) vs. 0, P=1.000] or hospitalization costs [(94000±14000) yuan vs.(95000±16000) yuan, P=0.895]. The median first time to liquid diet (57.1 hours vs. 70.8 hours, P=0.017) and median postoperative hospital stay (9 days vs. 11 days, P=0.003) of the patients in uncut Roux-en-Y group were shorter than those in BII(+Braun group.

CONCLUSIONLaparoscopic assisted or totally laparoscopic uncut Roux-en-Y reconstruction after radical gastrectomy of distal gastric cancer is safe and feasible with better recovery than BII(+Braun reconstruction.

Anastomosis, Roux-en-Y ; Databases, Factual ; Female ; Gastrectomy ; Gastroenterostomy ; Humans ; Laparoscopy ; methods ; Male ; Middle Aged ; Prospective Studies ; Stomach Neoplasms ; surgery ; Treatment Outcome