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Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder that manifests through increased genomic instability, malignancy, and cellular and humoral immunodeficiencies. The prognosis for NBS patients is poor due to their increased susceptibility to fatal infections and lymphoproliferative malignancies. Currently, there is no specific treatment for NBS, though allogeneic hematopoietic stem cell transplantation (HSCT) has been performed and documented as case series to demonstrate the utility of transplantation., Methods: A 14-year-old girl with NBS and haploidentical HSCT from her older brother due to recurrent lung infection was referred for liver transplantation (LT) due to liver cirrhosis, hepatopulmonary syndrome (HPS), and suspicion of liver malignancy. It was decided to perform LT using the living donor who had previously donated for HSCT., Results: Living donor left lobe LT was successfully performed from her brother. The patient experienced no complications in the early postoperative period and was discharged on the seventh postoperative day. Pathological examination of extracted liver has shown "intermediate cell carcinoma" in two foci. After 1 year LT, the patient has had an uneventful course in terms of LT complications and infection, with minimal immunosuppression., Conclusions: NBS patients have an increased prevalence of malignancies, including primary hepatic malignancy, but most are managed medically or with limited resections. Transplantation in these patients can be curative for hepatic malignancy with a favorable safety profile., (© 2024 Wiley Periodicals LLC.)

This study evaluated the impact of reconstructed portal vein/superior mesenteric vein (PV/SMV) morphology on the long-term nutritional status following pancreatoduodenectomy (PD) using computational fluid dynamics (CFD). Twenty-four patients who underwent PD with PV/SMV resection and reconstruction without tumor recurrence for over 9 months after the operation were enrolled in the study. Three-dimensional models were constructed from computed tomography images obtained 3-6 months postoperatively. The pressure (p) at the inlet and turbulence dissipation rate (ε) at the outlet were investigated in the models. Patients with values of either p or ε above the upper interquartile range were classified as the poor flow group. The prognostic nutritional index improvement rate was significantly lower at 9 postoperative months in the poor flow group than in the good flow group (P = 0.016). This finding indicates the utility of a CFD analysis for evaluating the reconstructed PV/SMV morphology., (© 2024. The Author(s) under exclusive licence to Springer Nature Singapore Pte Ltd.)

Background: The safety of laparoscopic hepatectomy for inherited coagulation disorders is unclear; however, the safety of open hepatectomy has been reported in several studies. Herein, we report the first case of a laparoscopic hepatectomy for a patient with von Willebrand Disease (VWD)., Case Presentation: A 76-year-old male with a history of chronic hepatitis C and VWD type 2B was advised surgical resection of a 4 cm hepatocellular carcinoma in segment 7 of the liver. The patient was diagnosed with VWD in his 40 s due to gastrointestinal bleeding caused by gastric erosion. The von Willebrand factor (VWF) ristocetin cofactor activity was 30%, and VWF large multimer deficiency and increased ristocetin-induced platelet agglutination were observed. The preoperative platelet count was reduced to 3.5 × 10 4 /μL; however, preoperative imaging findings had no evidence of liver cirrhosis, such as any collateral formations and splenomegaly. The indocyanine green retention rate at 15 min was 10%, and his Child-Pugh score was 5 (classification A). Perioperatively, VWF/factor VIII was administered in accordance with our institutional protocol. A laparoscopic partial hepatectomy of the right posterior segment was performed. The most bleeding during surgery occurred during the mobilization of the right lobe of the liver due to inflammatory adhesion between the retroperitoneum and the tumor. Bleeding during parenchymal transection was controlable. The duration of hepatic inflow occlusion was 65 min. The surgical duration was 349 min, and the estimated blood loss was 2150 ml. Four units of red blood cells and fresh frozen plasma were transfused at the initiation of parenchymal transection, and 10 units of platelets were transfused at the end of the parenchymal transection. On postoperative day 1, the transection surface drainage fluid became hemorrhagic, and emergency contrast-enhanced computed tomography showed extravasation in the greater omentum. Percutaneous transcatheter arterial embolization of the omental branch of the right gastroepiploic artery was performed. No further postoperative interventions were required. The patient was discharged on postoperative day 14., Conclusion: The indications for laparoscopic hepatectomy in patients with VWD should be carefully considered, and an open approach may still be the standard approach for patients with VWD., (© 2024. The Author(s).)

Background: Sump syndrome is one of the rare long-term complications of side-to-side choledochoduodenostomy (CD) leading to attacks of cholangitis due to accumulation of food and debris in the common bile duct distal to the anastomosis is one of the rare long-term complications after CD. Methods: Fifteen patients treated with the Sump syndrome in our institution between 1996 and 2023 were retrospectively evaluated for long-term outcome. Results: Endoscopic retrograde cholangiopancreatography (ERCP) with sphincterotomy and bile duct clearance was done in 11 patients, while four were subjected to revisional surgery in the form of a Roux-en-Y hepaticojejunostomy. No complications were recorded. There were 5 (38%) recurrences in a median follow-up period of 8 years (10 months-23 years). Of those, 3 patients were treated surgically and two with repeat ERCP. None of the patients developed any cholangiocarcinoma during follow-up. Conclusion: We conclude that although a high recurrence rate was observed, endoscopic treatment may be a valid approach in the treatment of Sump syndrome, with revisional surgery in the form of a Roux-en-Y hepaticojejunostomy as salvage therapy in recurrences.

Adrenocortical tumors are rare in children. Most of these tumors present with endocrinological manifestations, majority of which with virilizing features alone or in combination with over production of other adrenal hormones. However, it is uncommon of an adrenocortical tumor to present solely with Cushing`s syndrome. In this paper we discuss the clinical presentation and management of a 5-month-old infant who had presented with Cushing`s syndrome due to a functioning adrenocortical adenoma without androgen and mineralocorticoid excess, and made a brief review on the clinical and histopathological characteristics of adrenocortical tumors.