The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.

Benign transient hyperphosphatasemia of infancy (BTH) is a condition characterized by disproportionately high levels of serum alkaline phosphatase (SAP). We report 4 cases of healthy patients with an elevated SAP. The mean age of the patients was 33 (14-52) months, with three females and one male. All children had a normal physical exam and anthropometric measures. The maximum values of serum alkaline phosphatase recorded in the 4 patients were: 11900, 6500, 9700 and 7600 UI/L respectively, with the rest of the laboratory exams and diagnostic images being normal. The clinical course of all the patients was favourable and no patient presented signs of symptoms of illness. Blood was drawn on 6 occasions in patients 1 and 5 occasions in the rest. Benign transient hyperphosphatasemia of infancy was diagnosed. It is important to know the characteristics of this condition to order the necessary amount of complementary studies.

Infection is a frequent complication in patients following liver transplantation, and mycotic etiology is the third most common cause. Thrombosis of the hepatic artery is a high-risk condition for the graft and is generally secondary to noninfectious diseases. We present a 2-year-old child who developed hepatic artery obstruction due to Mucor sp. The child did not respond to medical treatment. We conclude that a high index of suspicion and rapid diagnosis are required so that aggressive and early treatment can be initiated. To our knowledge this is the first case published with this particular association.

Introduction. Appendicitis is the leading cause of surgical acute abdomen in pediatrics. During the COVID-19 pandemic, management strategies were reassessed and the number of visits to the emergency department dropped down, which may be associated with delayed diagnoses and complications. The objective of this study was to analyze the impact of the pandemic on children with acute appendicitis. Methods. Analytical, retrospective, comparative study of pediatric patients with acute appendicitis in the 5 months of COVID-19 lockdown versus the same period in the previous year. Incidence, clinical data, stage, surgical approach, and complications were analyzed. Results. The total number of appendicitis cases went down by 25 % (n = 67 versus n = 50 in 2020). The mean time to consultation was 24 hours in both periods (p = 0.989). The incidence of peritonitis was 44 % (n = 22) versus 37 % (n = 22) (p = 0.22) in 2019. No differences were observed in terms of appendicitis stage based on surgery reports. In 2019, all surgeries were laparoscopic; while in 2020, only 42 % (n = 21). The incidence of complications was 6 % versus 7.5 % in the previous period (p = 0.75). One patient was COVID-19 positive. Conclusion.Although in our population the number of appendicitis cases dropped down, consultation was not delayed. The greater impact was associated with the reformulation of management strategies, in which the laparoscopic approach is avoided to reduce virus transmission.

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