Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association

We report a 7-year-old girl with 22q13 deletion syndrome, 46,XX,Ish del(22)(q13.3)(ARSA-; D22S1726), who developed a fulminant autoimmune hepatitis requiring orthotopic liver transplantation. Recently, it has been suggested that the Shank3 gene product, whose deficiency is responsible for the features observed in this syndrome, could play a role in immunological response. Despite an increased incidence of respiratory infections, autoimmune diseases have thus far not been reported in patients with this syndrome. This is the first case of fulminant autoimmune hepatitis associated with the 22q13 deletion syndrome. The possible relationships between immune system dysfunctions peculiar of this syndrome and autoimmune hepatitis are discussed

Extrahepatic portal vein thrombosis in children and adolescents: Influence of genetic thrombophilic disorders

AIM: To explore the prevalence of local and genetic thrombophilic disorders as risk factors for portal vein thrombosis (PVT) in our series, the largest ever published in pediatric literature

Meso-Rex Bypass as alternative technique for portal vein reconstruction at- or after- liver transplantation in children: review and perspectives.

Direct portal revascularization can be achieved by interposing a vascular graft between the SMV and the Rex recessus (left portal vein system): the MRB. To review indications and results of the procedure in the setting of pediatric liver transplantation, reports were selected from the English literature. Previously reported series were updated to analyze long-term outcome. A new series was added and analyzed as a complementary set of cases. A total of 51 cases were analyzed. With a 96% overall patient survival rate and a 100% long-term patency rate when the IJV is used for the bypass, MRB achieves a very successful physiologic cure of chronic portal hypertension and restores the portal flow into and through the liver graft. It also has been used successfully for primary revascularization of liver grafts, as well as for managing early acute portal vein thrombosis episodes. The use of this procedure in conjunction with other strategies and techniques might be of interest for transplant surgeons, particularly those caring for children

Autologous Intestinal Reconstructive Surgery in the Management of Total Intestinal Aganglionosis.

OBJECTIVES: Total/near total intestinal aganglionosis (TIA/NTIA) is the most uncommon and life-threatening form of Hirschsprung disease (HD). The management of TIA/NTIA is challenging and the role of autologous intestinal reconstructive (AIR) surgery is controversial. The objective is to evaluate the effectiveness of AIR in patients with TIA/NTIA. METHODS: Records from children affected by TIA and enrolled in the multicenter international Pediatric Intestinal Rehabilitation and Transplantation Registry were retrospectively reviewed. RESULTS: Fourteen patients with TIA were identified. TIA diagnosis was confirmed histologically at the median age of 14 days of life. All received a proximal decompressive jejunostomy. Two patients died, 4 patients had satisfactory stoma output with enteral tolerance without additional procedures, 8 underwent 10 AIR procedures (4 Ziegler myotomy-myectomy, 3 transposition of aganglionic ileum with or without myotomy, 2 simple tapering, 1 longitudinal lengthening and tailoring procedure with associated myotomy). AIR significantly reduced median stoma output, from 197 to 31 mL · kg · day (P = 0.0001). The reduction was seen in all patients. In addition, AIR improved enteral tolerance in the long term in 5 of 8 patients (63%), and temporarily in 1, leading to a reduction of parenteral nutrition requirement from 100% to 70% (P = 0.0231). CONCLUSIONS: AIR surgery in carefully selected patients may be useful and effective way to enhance residual bowel absorptive function and to reduce parenteral nutrition requirements. AIR and intestinal transplantation are complementary surgical tools in the complex treatment algorithm of TIA/NTIA

Preliminary Evaluation of Sedentary Lifestyle in Italian Children after Solid Transplant: What Role Could Physical Activity Play in Health? It Is Time to Move

Background: Advances in the medical–surgical field have significantly increased survival after solid organ transplantation in the pediatric population. However, these patients are predisposed to the development of long-term complications (e.g., cardiovascular disease). The therapeutic role of physical activity (PA) to counteract these complications is well known. The purpose of the study was to investigate the level of PA in a pediatric population after solid organ transplantation. Methods: In the first 4 weeks at the beginning of the school year, the Physical Activity Questionnaire for Older Children and Adolescents was administered to young patients who had previously undergone solid transplants at our institute. Results: Questionnaires of 49 patients (57.1% female, mean age 13.2 ± 3.5 years) were analyzed and 32.7% of subjects did not perform any exercise during school physical education classes. Only 24% practiced a moderate quantity of exercise in the previous week (2–3 times/week) and 72% engaged in sedentary behaviors during weekends. Conclusions: Preliminary data confirmed that young recipients are still far from meeting the minimum indications of the World Health Organization on PA and sedentary behavior. It will be necessary to increase their involvement in PA programs in order not only to increase their life expectancy but also to improve their quality of life

Outcome on home parenteral nutrition for benign intestinal failure: A review of the literature and benchmarking with the European prospective survey of ESPEN

Background & aims: Indications and timing for referral for intestinal transplantation (ITx) were investigated through a review of the literature on home parenteral nutrition (HPN) for benign intestinal failure and a benchmarking to the results of a prospective European survey which evaluated the appropriateness of the current indications for ITx. Methods: Manuscripts reporting outcomes of adults and children on HPN were retrieved through a PubMed search. Data from the European survey were compared with those on HPN reported in the literature, and with those on ITx reported by the USA registry and by the Pittsburgh center. Results: HPN is a safe treatment with a high probability of survival. The risk of death during HPN is increased by the absence of a specialist team, and appears greater during the early period of treatment. Survival probability is decreased in patients with: age >40 or <2 years, very short bowel remnant, presence of a stoma, chronic intestinal pseudo-obstruction of myopathic origin, systemic sclerosis, radiation enteritis, intra-abdominal desmoids, necrotizing enterocolitis, congenital mucosal diseases. Liver failure is the HPN-related complication with the greatest risk of death. Death related to venous catheter complications is rare. The benchmarking supported the results of the European survey. © 2012 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism.SCOPUS: re.jinfo:eu-repo/semantics/publishe

Liver Transplantation and Gut Microbiota Profiling in a Child Colonized by a Multi-Drug Resistant Klebsiella pneumoniae: A New Approach to Move from Antibiotic to “Eubiotic” Control of Microbial Resistance

The increase of microorganisms multi-drug resistant (MDR) to antibiotics (ATBs) is becoming a global emergency, especially in frail subjects. In chronic liver disease (LD) with indications for liver transplantation (LT), MDR colonization can significantly affect the LT outcome. However, no clear guidelines for microbial management are available. A novel approach toward MDR-colonized patients undergoing LT was developed at our Center refraining from ATBs use during the transplant waiting list, and use of an intensive perioperative prophylaxis cycle. This study aimed to couple clinical evaluation with monitoring of gut microbiota in a pediatric LD patient colonized with MDR Klebsiella pneumoniae (KP) who underwent LT. No peri-transplant complications were reported, and a decontamination from the MDR bacteria occurred during follow-up. Significant changes in gut microbiota, especially during ATB treatment, were reported by microbiota profiling. Patterns of Klebsiella predominance and microbiota diversity revealed opposite temporal trends, with Klebsiella ecological microbiota niches linked to ATB-driven selection. Our infection control program appeared to control complications following LT in an MDR-KP-colonized patient. The perioperative ATB regimen, acting as LT prophylaxis, triggered MDR-KP overgrowth and gut dysbiosis, but buffered infectious processes. Mechanisms modulating the gut ecosystem should be taken into account in MDR colonization clinical management