[Analysis of DMD gene variants in a single center].

Objective: To investigate the DMD genetic variants of the Chinese population with Duchenne (DMD) and Becker muscular dystrophies (BMD). Methods: A cross-sectional study was conducted on 2 690 unrelated patients with DMD and BMD aged 0-18 who visited the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2005 to February 2022. The clinical data, such as gender, age, clinical manifestations, and address, were collected. Multiplex ligation-dependent probe amplification, next generation sequencing panel, Sanger sequencing, and PCR amplification were used to detect the variants of the DMD gene in the patients, whose clinical information and gene detection results were descriptively analyzed. Results: The 2 690 patients included 2 648 males and 42 females, with an age of 6.0 (4.0, 9.0) years. The serum creatine kinase increased in all patients. Pathogenic DMD gene variants were detected in the 2 618 patients, including 1 875 cases (71.6%) large deletions, 231 cases (8.8%) duplications, and 512 cases (19.6%) small variants. Among the deletion variants, the deletion of 3 exons was the most common, accounting for 15.4% (288/1 875); and hotspot deletion involved exons 45 to 50, accounting for 6.3% (119/1 875). Exon 2 was the most common type duplication region, accounting for 13.0% (30/231). Small variants were distributed in all 79 exons of the DMD gene, with no hotspots. In addition, the 46 small variants were previously unreported. Conclusion: Exon deletion is the most common type of DMD gene variant, followed by small variants and exon duplication.

[Combined multiple artery-first approach to pancreatoduodenectomy].

Objective: To investigate the clinical application of combined multiple artery-first approach to pancreatoduodenectomy. Methods: The clinical data of 53 patients who were diagnosed with peripancreatic head tumor at Department of Biliary-Pancreatic Surgery of Second Affiliated Hospital of Harbin Medical University between June 2013 and June 2015 was retrospectively analyzed.Pancreatic enhanced CT scan, magnetic resonance cholangiopancreatography, ultrasonography and tumor marker detection were applied for all the patients preoperatively.The 53 patients were operated by combined multiple artery-first approach(superior+ posterior approach, superior+ inferior approach, posterior+ inferior approach, superior+ posterior+ inferior approach) according to individualized therapeutic concept.And 42 patients underwent pancreatoduodenectomy, 9 patients underwent palliative operation and 2 patients just received exploratory operation. Results: Forty-two peripancreatic head tumor patients underwent pancreatoduodenectomy by applying combined multiple artery-first approach.The median operation time and intraoperative blood loss were (5.4±3.1)hours and (366±297)ml and the harvested lymph node and duration of hospital stay were 19±5 and (14.0±5.6)days.Nine patients underwent "total mesopancreas excision" and the rate of postoperative pancreatic fistula and R0 resection were 38.1% and 88.1%. Anomalous origin hepatic right artery was detected in one patients during the operation and no death occurred within 30 days postoperatively. Conclusion: According to the tumor location and patient's condition, individualistically applying combined multiple artery-first approach can reduce intraoperative blood loss, terminate unnecessary surgery, detect anomalous origin artery, make the tumor resection more radical and pancreatoduodenectomy more safety.

[Progress of application for enhanced recovery after surgery in pancreaticoduodenectomy].

Due to the large surgical trauma and postoperative complications, the perioperative management of pancreaticoduodenectomy has been one of the urgent problems to be solved by the surgeons. With the development of modern medicine, enhanced recovery after surgery (ERAS) comes into being, basing on anti-stress mechanism and multi-disciplinary team, and the perioperative management of pancreaticoduodenectomy has been optimized and improved continuously. The surgeons through a range of measures that had evidence-based medicine basis to mitigate the extent of surgical trauma stress, reduce the incidence of postoperative complications, shorten patient recovery time previously healthy state, and achieve maximize benefit for patients. Currently, the ERAS application in the specific aspects of pancreaticoduodenectomy remains contentious. However, with the emergence of evidence-based medicine, ERAS is constantly being refined. Therefore, this article combined with ERAS guidelines and expert consensus is of great significance to deepen the research and understanding of ERAS in pancreaticoduodenectomy.