Safety and efficacy of lumen-apposing metal stents and double-pigtail plastic stents for endoscopic ultrasound-guided drainage of walled-off necrosis; a systematic review and meta-analysis.

BACKGROUND: Patients with walled-off necrosis (WON) are still challenging to treat safely and effectively. Recently, double-pigtail plastic stents (DPS), bi-flanged metallic stents (BFMS), and lumen-apposing metal stents (LAMS) have been employed with endoscopic ultrasound-guided (EUS-guided) drainage. However, there is little solid evidence to support the effectiveness and safety of using stents. This study aims to compare the outcomes of the LAMS and the PS. METHOD: Till July 2022, a thorough database search was done, and studies that met the criteria were chosen. By using the RevMan software, the technical and clinical success and other secondary outcomes were calculated. Subgroup analysis was performed between the LAMS and the BFMS. RESULTS: Fifteen studies (two randomized controlled trials and thirteen observational) with 687 patients receiving metal stents and 771 patients receiving plastic stents were selected for final analysis. There was no significant risk of bias or publication bias. The odds ratios (OR) for technical and clinical success were 0.36 (95% confidence interval (95% CI) 0.08, 1.52) and 2.26 (95%CI 1.62, 3.15), respectively. The OR for overall adverse events was 0.74 (95% CI 0.41, 1.34). In subgroup analysis, the LAMS and the BFMS showed the same outcomes. CONCLUSION: Compared to DPS, LAMS had better clinical outcomes and fewer side effects when treating patients with WON.

What is the best endoscopic treatment option for the walled-off necrosis (WON)?A brief comparison of lumen-apposing metal stents (LAMS), bi-flanged metallic stents (BFMS) and double-pigtail plastic stents (DPS) for the treatment of WON patients.How can we limit the adverse events and provide better treatment.

A case of 16p13.11 microdeletion syndrome with febrile convulsion as the main manifestation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a girl with febrile convulsion as the main manifestation.@*METHODS@#The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family.@*RESULTS@#The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR.@*CONCLUSION@#16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.

Diagnosis of a case of 2q37 deletion syndrome by whole exome sequencing combined with whole genome low-coverage sequencing method / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics in a girl with 2q37 deletion syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples taken from the patient and her parents, and was subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). Candidate CNVs were verified by chromosomal karyotyping analysis and fluorescence quantitative PCR.@*RESULTS@#The child was found to harbor a 6 Mb heterozygous deletion in 2q37 by WES and CNV-seq. The deletion has encompassed 98 genes with a range from GBX2 to LINC01881, and was de novo in origin. The result of fluorescence quantitative PCR was consistent with that of WES and CNV-seq. However, karyotyping analysis has failed to detect the deletion.@*CONCLUSION@#The patient was diagnosed with 2q37 deletion syndrome. Combined WES and CNV-seq method features high resolution, high throughput, and high sensitivity, which can significant raise the diagnostic rate for patients with mental disorder, multiple malformations and unknown syndromes.

Clinical characteristics and genetic analysis of patients with autosomal recessive dopa-responsive dystonia / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics and gene mutation of autosomal recessive doparesponsive dystonia(AR-DRD),and to explore its therapeutic effect,follow-up findings and molecular genetic mechanism.Methods The whole exome sequencing,which based on next-generation sequencing,was performed in 6 movement-disordered patients who denied family history at the outpatient clinic of Children's Hospital Affiliated to Capital Institute of Pediatrics from April 2016 to September 2017.The mutations identified in probands were then confirmed in probands and their parents by Sanger sequencing in order to analyze the cause of mutations.Results (1) Clinical features:the onset of 6 patients was around infancy,complicated with muscle weakness and abnormal muscle tone.(2) Gene mutation analysis:All 6 patients carried TH gene mutations.Five patients were of complex heterozygosis mutations,1 patient was of homozygosis mutation.Five mutations were detected:c.605 G ＞ A,c.601 C ＞ T,c.364C ＞T,c.1412_1413insCCCCCAGGCCGTGC and c.646G ＞ A.(3) Therapeutic effect:all 6 patients achieved improvement of motor function after dopamine treatment,and they presented the different degrees of improvement in muscle tone and muscle strength.Conclusions The AR-DRD patients who carried c.605 G ＞ A mutation have a good therapeutic effect treated with L-Dopamine.This mutation may be a common mutation site of mild to moderate defective AR-DRD at home and abroad.The frameshift mutation c.1412_1413insCCCCCAGGCCGTGC is a new TH gene pathogenicity mutation site discovered by this study.

Clinical characteristics and genetic analysis of patients with autosomal recessive dopa-responsive dystonia / 中华实用儿科临床杂志

Objective@#To analyze the clinical characteristics and gene mutation of autosomal recessive dopa-responsive dystonia(AR-DRD), and to explore its therapeutic effect, follow-up findings and molecular genetic me-chanism.@*Methods@#The whole exome sequencing, which based on next-generation sequencing, was performed in 6 movement-disordered patients who denied family history at the outpatient clinic of Children′s Hospital Affiliated to Capital Institute of Pediatrics from April 2016 to September 2017.The mutations identified in probands were then confirmed in probands and their parents by Sanger sequencing in order to analyze the cause of mutations.@*Results@#(1)Clinical features: the onset of 6 patients was around infancy, complicated with muscle weakness and abnormal muscle tone.(2)Gene mutation analysis: All 6 patients carried TH gene mutations.Five patients were of complex heterozygosis mutations, 1 patient was of homozygosis mutation.Five mutations were detected: c.605 G>A, c.601 C>T, c.364C>T, c.1412_1413insCCCCCAGGCCGTGC and c. 646G>A.(3)Therapeutic effect: all 6 patients achieved improvement of motor function after dopamine treatment, and they presented the different degrees of improvement in muscle tone and muscle strength.@*Conclusions@#The AR-DRD patients who carried c. 605 G>A mutation have a good therapeutic effect treated with L-Dopamine.This mutation may be a common mutation site of mild to moderate defective AR-DRD at home and abroad.The frameshift mutation c. 1412_1413insCCCCCAGGCCGTGC is a new TH gene pathogenicity mutation site discovered by this study.

Analysis of cancer incidence and mortality in Heilongjiang province cancer registries, 2013 / 国际肿瘤学杂志

Objective To analyze the malignant tumor incidence and mortality in Heilongjiang province in 2013.Methods Tumor registration data of Heilongjiang province cancer registries in 2013 were collected.The malignant tumor incidence and mortality of registration data from 7 cancer registries were analyzed according to the criteria of quality control from National Central Cancer Registry (NCCR).Results The crude incidence rate of cancer in Heilongjiang province was 234.34/105.Age-standardized incidence rates by Chinese standard population (ASIRC) and by world standard population were 153.08/105 and 149.33/105 with the cumulative incidence rate (0-74 years old) of 17.17％.The cancer incidence and ASIRC were 258.42/105 and 157.00/105 in urban areas,whereas in rural areas,they were 190.95/105 and 145.44/105,respectively.The cancer mortality in Heilongjiang province was 147.62/10s.Age-standardized mortality rates by ASIRC and by world standard population were 92.22/105 and 91.41/105 with the cumulative incidence rate (0-74 years old) of 10.44％.The cancer mortality and ASIRC were 171.85/105 and 97.85/105 in urban areas,whereas in rural areas,they were 103.95/105 and 78.48/105,respectively.Lung cancer,breast cancer,liver cancer,colorectal cancer and gastric cancer were the high-incidence cancers in Heilongjiang province.Lung cancer,liver cancer,gastric cancer,colorectal cancer and breast cancer were the most death causes.Conclusion The morbidity and mortality of lung cancer are the highest in Heilongjiang province in 2013.Lung cancer and digestive system malignancies are the most common cancers in Heilongjiang province.Dynamic monitoring tumor morbi-dity and mortality in Heilongjiang province is the basis of the cancer prevention and control work.The active and effective comprehensive control measures should be taken to curb the rising trend of malignant tumor burden.

SNP-SNP interactions of immunity related genes involved in the CD28/B7 pathway with susceptibility to invasive ductal carcinoma of the breast.

To explore the interactions among immunity related genes and the risk of breast cancer (BC), 376 invasive ductal carcinoma (IDC) of the breast cases and 366 healthy controls were selected into our study. Twenty single nucleotide polymorphisms (SNPs) of five immunological genes in the CD28/B7 pathway were genotyped. Overall, five SNPs filtered by the Relief F algorithm were rs733618, rs11889031, rs4553808, rs4675374 and rs10754339. The best model of multifactor dimensionality reduction (MDR) contained rs733618 and rs11889031. The high risk genotype combination contributed to increasing risk of breast cancer (odds ratio (OR), 4.36; 95% confidence interval (CI); 3.15-6.02). The information gain (IG) value of these two SNPs was 8.07%, presented the strongest interaction effect. Five significant multiplicative interactions and seven significant combining effects were found among the filtered SNPs. Moreover, the filtered SNPs were still stable in the groups of ER(+), PR(+), CerbB2(-) and lymph node (LN) involvement positive with the best models including rs733618 and rs11889031. The most frequent haplotype was TACC which significantly increased breast cancer risk (OR, 1.80; 95% CI, 1.43-2.25). These results suggested that interactions among cytotoxic T lymphocyte antigen-4 (CTLA4), inducible co-stimulator (ICOS) and B7H4 might play critical roles on the risk of breast cancer.

Analysis of cancer screening of 2013-2014 in Heilongjiang province / 实用肿瘤学杂志

Objective To evaluate results of cancer early detection and early treated project screening and experience in Heilongjiang province from 2013 to 2014.Methods In Harbin and Daqing city resident popu-lation ,high-risk groups were screened through the risk factors questionnaire and screened corresponding clinical examine,respectively(lung cancer,liver cancer,breast cancer,upper gastrointestinal cancer and colorectal canc-er) .To explore cancer preventive effect of early detection and early treated in Heilongjiang province.Results We smoothly completed the cancer early detection and early treatment between 2013—2014 in Heilongjiang prov-ince,a total of 15628 people received a copy of risk factors questionnaire,10299 people in high-risk groups re-ceived clinical screening.A total of 66 cases of suspected cancer cases were screened.Conclusion completed Cancer early detection and early treatment are performed in Heilongjiang province between 2013—2014.Early de-tection can be treated early project for early discovery,early diagnosis and early treatment.It is important to im-prove the quality of screening survival time and survival of patients′.The project also promotes the early diagrosis and early treatment experience in Heilongjiang province.

Relationship between the polymorphism of tumor necrosis factor-α-308 G>A and susceptibility to inflammatory bowel diseases and colorectal cancer: a meta-analysis.

Inflammatory bowel disease (IBD) and colorectal cancer (CRC) are common health problems worldwide. Tumor necrosis factor (TNF) is a type of cytokine that induces inflammation and inhibits tumorigenesis. Several studies have assessed the relationship between the polymorphism of TNF-α-308 G>A and the susceptibility to IBD and CRC; however, the results have been controversial. In addition, the hypothesis whether the increased risk of CRC in IBD patients could be partly ascribed to the polymorphism of TNF-α-308 G>A was unclear. Therefore, we conducted this meta-analysis to confirm these associations. Pooled odd ratios (ORs) and 95% confidence intervals (95% CIs) were calculated on the basis of data from 14, 18, and 7 studies from a total of 27 studies for the associations between the polymorphism of TNF-α-308 G>A and ulcerative colitis, Crohn's disease (CD) and CRC. In Europeans, the AA genotype increased the risk of ulcerative colitis (UC) (OR, 2.041; 95% CI, 1.261-3.301) and CD (OR, 1.730; 95% CI, 1.168-2.564) significantly, without obvious heterogeneity and publication bias. Meanwhile, the GA genotype increased the risk of UC in Asians (OR, 2.360; 95% CI, 1.269-4.390) significantly. However, no significant association was observed for CRC in any ethnic population. The results of this meta-analysis suggested that the polymorphism of TNF-α-308 G>A participates in modifying the susceptibility to UC and CD in Europeans and Asians. The increased risk of CRC in IBD patients should be clarified as the combined effects of polymorphisms in TNF-α and other cytokines, and the interaction with environmental factors, in future studies.