A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.

BACKGROUND: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups. CASE PRESENTATION: We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.

Pancreatoduodenectomy for Malignant Solid Pseudopapillary Neoplasm in a Patient with Chronic Calcifying Pancreatitis, Rheumatoid Polyarthritis and Kidney Stones.

We present the case of a patient with rheumatoid polyarthritis treated in our department, with a long history of chronic calcifying pancreatitis which was incidentaly diagnosed during a renal colic with a pancreatic tumor. Pancreatoduodenectomy with lateral superior mesenteric vein resection was performed, the final pathological examination revealed a malignant solid pseudopapillary neoplasm with a positive lymph node. Clinical, surgical, pathological and a review of the literature are presented.

A Single Center Experience in Liver Resection and Ablative Techniques: An Analysis of Six Years.

Introduction: We present our 6-year experience with liver surgery and ablative techniques. Method: An observational retrospective analysis from a prospectively maintained database was performed in our department. All the patients with liver resection, liver resection combined with intraoperative ablative techniques and percutaneous ablative techniques were included from January 1st 2014 to December 31st 2020. Results: There were 249 patients analyzed: 273 patients with liver resection, 12 patients with liver resection combined with intraoperative MWA, 9 patients with open surgery MWA, 12 patients with percutaneous MWA, 1 patient with TACE and MWA, 1 patient with TACE and PEI, 10 patients with TACE, and 2 patients with PEI. Conclusion: Liver disease should be managed in specialized centers which can offer a wide range of therapeutic options. With the improvement of the surgical technique and perioperative care, including optimized postoperative complication management, and carried out by well-trained surgeons, liver surgery can be performed with low mortality and acceptable morbidity.

Single Center Experience in Pancreatic Surgery.

Introduction: We present our department experience in pancreatic surgery over the last 6 years. From its inception the number of pancreatic resections has been continuously growing each year. Method: We performed a retrospective analysis of a prospectively maintained database where we included all the patients with pancreatic resections over the last 6 years. We present the main indication and the different types of pancreatic resections, postoperative morbidity, intrahospital and 90-day mortality and an analysis of survival for the patients with pancreatic ductal adenocarcinoma. Results: We analyzed 198 patients, 193 with pancreatic resections and 5 patients with open surgery microwave ablation. There were 145 pancreaticoduodenectomies, 37 distal pancreatectomies, one total pancreatectomy, 3 distal pancreatectomies with celiac axis resection and 7 surgical interventions for chronic pancreatitis. Conclusion: We presented our center's experience in pancreatic surgery with good overall results, however, there is still room for continuous improvement and refinements to achieve better shortterm outcomes, regarding postoperative morbidity and mortality.