Objective This study was designed to understand the characteristics of colonic polyps in aged people, and the relationship between the colonic polyps and the malignant change. Methods A total of 158 patients with colonic polyps diagnosed by endoscopy were retrospectively analyzed during the recent years. Among them, 120 patients had been followed up by endoscopy for 1 to 6 years(average 4 5 years) and were compared with 437 young patients. Results The detective rate and the malignant change rate of colonic polyps in the aged people were 30% and 23 4%, respectively, being significantly higher than that of the young (10 2%) and the middle aged people(6 9%, P

Objective:To study the changes of patient-related costs and the use of stents and other consumables before and after the centralized procurement of coronary stents.Methods:The inpatient medical insurance settlement case data of 1,973 patients with coronary stent implantation admitted to Daping Hospital of Army Medical University from December 2019 to October 2021 were selected.Among them,the data of 1,317 cases of percutaneous cardiovascular surgery and coronary stent implantation with serious or complications and accompanying disease group were slected according to disease diagnosis related groups(DRG),which were divided into the pre-centralized procurement group(667 cases)and the post-centralized procurement group(650 cases)according to the centralized procurement of coronary stents before and after.The costs of patients'medical consumables with the consumption of patients'medical consumables and the impact of the use of consumables such as coronary stents on the costs of medical consumables were compared.Results:There was no significant statistical difference in the hospitalization days and the average number of stents used in patients undergoing percutaneous cardiovascular procedures and coronary stent implantation with centralized procurement of coronary stents.There was a statistically significant difference in the total diagnosis and treatment cost,medical consumables cost,medicines and consumables cost and medicines cost between the pre-centralized procurement group and the post-centralized procurement group(Z=-22.316,-23.546,-22.917,-5.724,P<0.05).The cost of stents[16 260(13 300,32 272)yuan],the number of catheter guidewire balloon sheaths consumables[5(4,8)sets(pieces)],and the cost of catheter guidewire balloon sheaths consumables[8 719(5 805,15 372)yuan]in the pre-collection group were collected.There were statistically significant differences in the stent cost[1 059(590,1 770)yuan],the number of catheter guidewire balloon sheaths consumables[8(7,12)sets(pieces)],and the cost of catheter guidewire balloon sheaths consumables[5 708(3 392,12 871)yuan]between the two groups(Z=-30.452,16.582,-7.670,P<0.05).There was a statistical correlation between the cost of coronary stents and the cost of catheter guidewire balloon sheaths before and after centralized volume procurement on the cost of medical consumables for patients(r=0.903,0.473,0.785,0.953,P<0.05).The correlation coefficient between the cost of coronary stents and the cost of medical consumables for patients in the post-centralized procurement group decreased compared to the pre-centralized procurement group,the correlation coefficient between the cost of catheter guidewire balloon sheath and the cost of medical consumables for patients increased.Conclusion:The centralized procurement of coronary stents has a significant cost control effect on patients in the disease groups,and affects the cost structure of medical consumables.Combined with DRG reform,it can continuously improve the standardization and scientificity of clinical use of medical consumables.

Objectives: . Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. Methods: . We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. Results: . A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. Conclusion . We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.

Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These diseases are mainly characterized by hearing impairment and abnormal phenotype of ears, accompanied by renal malformation and branchial cleft anomalies including cyst or fistula, with an incidence of 1/40 000 in human population. Otic anormalies are one of the most obvious clinical manifestations of BOS/BORS, including deformities of external, middle, inner ears and hearing loss with conductive, sensorineural or mix, ranging from mild to profound loss. Temporal bone imaging could assist in the diagnosis of middle ear and inner ear malformations for clinicians. Multiple methods including direct sequencing combined with next generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), or array-based comparative genomic hybridization (aCGH) can effectively screen and identify pathogenic genes and/or variation types of BOS/BORS. About 40% of patients with BOS/BORS carry aberrations of EYA1 gene which is the most important cause of BOS/BORS. A total of 240 kinds of pathogenic variations of EYA1 have been reported in different populations so far, including frameshift, nonsense, missense, aberrant splicing, deletion and complex rearrangements. Human Endogenous Retroviral sequences (HERVs) may play an important role in mediating EYA1 chromosomal fragment deletion mutations caused by non-allelic homologous recombination. EYA1 encodes a phosphatase-transactivator cooperated with transcription factors of SIX1, participates in cranial sensory neurogenesis and development of branchial arch-derived organs, then regulates the morphological and functional differentiation of the outer ear, middle ear and inner ear toward normal tissues. In addition, pathogenic mutations of SIX1 and SIX5 genes can also cause BOS/BORS. Variations of these genes mentioned above may cause disease by destroying the bindings between SIX1-EYA1, SIX5-EYA1 or SIX1-DNA. However, the role of SIX5 gene in the pathogenesis of BORS needs further verification.
Branchio-Oto-Renal Syndrome/pathology* ; Chromosome Deletion ; Comparative Genomic Hybridization ; Genetic Research ; Homeodomain Proteins/genetics* ; Humans ; Intracellular Signaling Peptides and Proteins ; Nuclear Proteins/metabolism* ; Pedigree ; Protein Tyrosine Phosphatases/metabolism*