Meralgia paresthetica after “all-in-one” appendectomy

AbstractMinimally invasive approaches have become standard for pediatric appendectomy. The laparoscopic assisted single port approach, also known as the “all-in-one” appendectomy, has gained recent popularity [1]. We describe a child who suffered meralgia paresthetica (a neuropathy in the distribution of the lateral femoral cutaneous nerve) after a laparoscopic assisted single port appendectomy, perhaps secondary to mobilization of the cecum

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects

Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have achieved sustained clinical improvement after a single systemic injection of adeno-associated virus (AAV) derived vectors encoding the human factor IX cDNA. These trials demonstrate the potential of AAV technology to provide long-lasting clinical benefit in the treatment of monogenic liver disorders. Indeed, with more than ten ongoing or planned clinical trials for haemophilia A and B and dozens of trials planned for other inherited genetic/metabolic liver diseases, clinical translation is expanding rapidly. Gene therapy is likely to become an option for routine care of a subset of severe inherited genetic/metabolic liver diseases in the relatively near term. In this review, we aim to summarise the milestones in the development of gene therapy, present the different vector tools and their clinical applications for liver-directed gene therapy. AAV-derived vectors are emerging as the leading candidates for clinical translation of gene delivery to the liver. Therefore, we focus on clinical applications of AAV vectors in providing the most recent update on clinical outcomes of completed and ongoing gene therapy trials and comment on the current challenges that the field is facing for large-scale clinical translation. There is clearly an urgent need for more efficient therapies in many severe monogenic liver disorders, which will require careful risk-benefit analysis for each indication, especially in paediatrics

Alterations in respiratory status: Early signs of severe necrotizing enterocolitis

Background: Necrotizing enterocolitis (NEC) presents with well- recognized signs of intestinal inflammation such as bilious vomiting, bloody stool, abdominal distension, and tenderness. The authors observed otherwise unexplained changes in the respiratory status requiring increased respiratory support during the 24 hours before direct evidence of the intestinal, disorder in-patients with severe NEC. Methods: To study this observation the authors collected data on 10 consecutive patients in whom NEC required an operation. Results: Eight of these patients were recovering from respiratory distress syndrome (RDS). During the 24 hours before any direct sign of intestinal dysfunction seven of these eight had 8 respiratory prodrome needing increased respiratory support. Two patients required intubation and mechanical ventilation. Five needed increased supplemental oxygen. This prodrome included decreased oxygenation in seven, increased respiratory rate in five, and increased Pco2 in five, preceded by Conclusions: These changes in the respiratory condition revisit the concept of high output respiratory failure. This term was introduced to describe the respiratory failure in adult patients who suffer acute intestinal illness. Increased metabolic demand from the intestinal illness was thought to stress the ability of the patient to delivery oxygen and remove carbon dioxide. The ability of the respiratory system to meet the increased demands is limited by the intestinal dysfunction itself (abdominal pain and distension). In our patients recovering from RDS the pulmonary reserve is inherently limited. Because they are carefully monitored, it is easy to retrieve evidence of respiratory changes that precede the direct signs of intestinal disease. In the earliest stages of intestinal illness before the direct signs of intestinal dysfunction, these patients often manifest unexplained signs of respiratory compensation and decompensation and require increased respiratory support. Regardless of the pathophysiology, these alterations in respiratory status represent an early warning sign of NEC