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Background: An inconclusive diagnosis of cystic fibrosis (CF) after positive newborn screening (NBS) may cause parental distress. We compared the psychological impact of CF transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID), and clear CF diagnosis, on parents., Methods: The participants were administered the Generalized Anxiety Disorder Scale, Patient Health Questionnaire-9, and the Italian version of the Impact of Event Scale-Revised as quantitative tools and semi-structured interviews as qualitative tools. Parental experience, child representation, relationships, future information, and perception of health status were investigated. Interviews were recorded and transcribed verbatim maintaining anonymity., Results: Thirty-two families were enrolled: sixteen with CF and CRMS/CFSPID, respectively. Anxiety and depression values were high in both groups, as were the measurement of traumatic impact subscales: avoidance, intrusiveness, and hyperarousal. The children's health was evaluated by respective parents as being nearly healthy., Conclusions: Our results highlight negative psychological impacts, including emotional and affective representations, on parents of children with inconclusive CF diagnosis compared with those with clear diagnosis.

Introduction  The aim of the study was to investigate perinatal outcome of fetuses with hyperechogenic bowel (HB) in relation to gestational age at diagnosis. Materials and Methods  This is a retrospective observational study of fetal HB cases from 2002 to 2012. Patients were divided into three groups according to trimester at diagnosis. For each group, data from fetal ultrasound examination, fetal medicine investigations, intrapartum cares, and neonatal outcome were obtained. Results  A diagnosis of HB was made in 279 fetuses among them 17 (6%) during the first trimester, 186 (67%) during the second trimester, and 75 (27%) during the third trimester. A significant prevalence of maternal comorbidities was noticed in group 1 (12%: p  = 0.02). A chromosomal defect was identified in 13% of the fetuses without difference among the three groups. HB was associated with prenatal infection in 11.5% ( n  = 32) of the cases, with an equal distribution between groups 2 and 3. Intrauterine growth retardation was noticed in 23% ( n  = 64) of the cases with a slightly high prevalence in groups 1 (35%). HB was the only ultrasonographic intestinal soft marker in 80% ( n  = 223) of the fetuses, two-third of them were detected during the first and the second trimesters ( p  = 0.001). However, HB was associated with bowel dilation in 33% of the cases diagnosed during the third trimester ( p  = 001). Ultrasonographic extraintestinal anomalies were identified in 30% of the fetuses with a higher prevalence in group 1 (59%). HB resolved spontaneously in 55 (19.7%) cases-without difference among the three groups. In group 1 we recorded a significant prevalence of intrauterine demise (23.5%, p  = 0.004). Two hundred twenty-seven (81.3%) pregnancies resulted in live-born neonates; among them gastrointestinal anomalies were noticed in 12.5% with a significant prevalence in group 3 (36%) compared with 6 and 5.4% in groups 1 and 2, respectively ( p  = 0.001). Extraintestinal anomalies were confirmed in 27% of the cases, whereas postnatal mortality rate was of 7% without differences between the three groups. Conclusion  Detection of HB during the first trimester is associated with an increased risk for maternal comorbidities, intrauterine growth retardation, and adverse pregnancy outcome. Moreover, if HB is detected during the second trimester, it is associated with a favorable prognosis. Otherwise, HB detected during the third trimester is associated with a significant risk of gastrointestinal anomaly., (Georg Thieme Verlag KG Stuttgart · New York.)

Splanchnic vein thrombosis (SVT) is one of the vascular complications of myeloproliferative neoplasms (MPN). We designed a phase 2 clinical trial to evaluate safety and efficacy of ruxolitinib in reducing splenomegaly and improving disease-related symptoms in patients with MPN-associated SVT. Patients diagnosed with myelofibrosis (12 cases), polycythemia vera (5 cases) and essential thrombocythemia (4 cases) received ruxolitinib for 24 weeks in the core study period. Spleen volume was assessed by magnetic resonance imaging (MRI) and splanchnic vein circulation by echo-Doppler analysis. Nineteen patients carried JAK2V617F, one had MPLW515L, and one CALRL367fs*46 mutation. Eighteen patients had spleno-portal-mesenteric thrombosis, two had Budd-Chiari syndrome, and one had both sites involved; 16 patients had esophageal varices. Ruxolitinib was well tolerated with hematological toxicities consistent with those of patients without SVT and no hemorrhagic adverse events were recorded. After 24 weeks of treatment, spleen volume reduction ≥35% by MRI was achieved by 6/21 (29%) patients, and a ≥50% spleen length reduction by palpation at any time up to week 24 was obtained by 13/21 (62%) patients. At week 72, 8 of the 13 (62%) patients maintained the spleen response by palpation. No significant effect of treatment on esophageal varices or in splanchnic circulation was observed. MPN-related symptoms, evaluated by MPN-symptom assessment form (SAF) TSS questionnaire, improved significantly during the first 4 weeks and remained stable up to week 24. In conclusion, this trial shows that ruxolitinib is safe in patients with MPN-associated SVT, and effective in reducing spleen size and disease-related symptoms., (© 2016 Wiley Periodicals, Inc.)

Background: Undifferentiated embryonal sarcoma of the liver is a rare malignant mesenchymal tumour occurring mostly in children ages 6-10 years. The discrepancy between its solid appearance on US and cystic-like appearance on CT has been described., Objective: To study the imaging particularities and similarities among our cases of undifferentiated embryonal sarcoma and to report the errors in initial diagnoses., Materials and Methods: We conducted a retrospective study of 15 children with undifferentiated embryonal sarcoma diagnosed or referred to our hospital during 1997-2015 and analysed the clinical, biological and imaging data., Results: We identified eight boys and seven girls ages 9 months to 14 years. Ten children presented with abdominal pain. Alpha-fetoprotein was slightly increased in one. Initial US and CT had been performed for all, while additional MRI had been done in two children. Initial CT demonstrated a hypoattenuated mass in all. Rupture was seen in five and intratumoural bleeding in seven children. Tumour volumes reduced during neoadjuvant chemotherapy in 10 children., Conclusion: Undifferentiated embryonal sarcoma might be suggested in a non-secreting unifocal tumour with well-defined borders, fluid-filled spaces on US, hypoattenuation and serpiginous vessels on CT, and if there are signs of internal bleeding or rupture on CT or MRI.

The aim of this study is to compare the outcomes and the complications between the 2 most adopted procedures for gastrostomy placement: percutaneous endoscopic gastrostomy (PEG) and laparoscopic gastrostomy (LG) in children. We present our study on 69 patients (male: 46/female: 23): group 1 (37 patients, 54%) undergoing PEG, group 2 (32 patients, 46%) undergoing LG. A total of 5 major complications were observed all in the PEG group (13.5%), no major complication was observed in the LG group (P-value<0.05). A total of 12 minor complications were observed: 4 occurred in the PEG group (10.8%) and 8 (25%) in the laparoscopic gastrostmoy group, not statistically relevant. We suggest that the LG should be considered the preferred technique for gastrostomy placement in pediatric patients, particularly in newborns, children with significant skeletal malformations, and patients who underwent previous abdominal surgery., Competing Interests: The authors declare no conflicts of interest.

Urachal anomalies are relatively uncommon; they usually present in childhood as urachal cysts, urachal sinuses, diverticula, and patent urachus. The malignant involvement of the urachus, although rare in children, is commonly found in adulthood when adenocarcinoma accounts for the majority of the cases, representing up to 20-30% of all adenocarcinomas of the bladder. Urachal tumors of variable histology have been reported in children and adolescents as single case report. We present the first case of a 4-year-old thalassemic boy, with an incidental finding of giant cell tumor arising in an urachal remnant., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: The Vacuum Assisted Closure (VAC) system has become an effective treatment for acute and chronic wound defects. Although its use has been reported in wound care of children and premature infants, the management of the device in this population has not been well established., Case Presentation: We report the satisfactory results in two neonates (one full-term and one preterm) with complex wounds secondary to major abdominal surgery. In the premature baby an enterocutaneous fistula was also present. Complete epithelialization of the wounds was achieved in both patients within a few weeks thus avoiding any further surgical procedure., Case Presentation: The use of VAC system in neonates is safe and effective in the management of complex wounds and should be considered as a first line treatment in the event of a major dehiscence.

Aim: Undifferentiated sarcoma of the liver (USL) is the third commonest malignant liver tumor in children. The aim of our study is to evaluate the outcome of this rare entity according to the quality of the surgical resection and the compliance to the European pediatric soft tissue sarcoma group guidelines., Patients and Methods: We conducted a monocentric review of patients referred to our department with a definitive pathologic diagnosis of USL between 1997 and 2013. We looked at the diagnosis and management pitfalls, surgical technique, and outcomes. Results are expressed as median (range)., Results: There were 13 patients (M/F=7:6=1.1). Age at presentation was 8 years (range, 11 months-16 years). Of the 13 patients, 10 patients (69%) presented with abdominal pain, 5 (38%) with tumoral bleeding, and 2 (15%) with peritoneal rupture. All lesions were unique, nonmetastatic, and heterogeneous with cystic components measuring 14 (6-19) cm. Six (46%) patients had an upfront surgery: five because of wrong clinical diagnosis (three query mesenchymal hamartoma, one spontaneous peritoneal bleeding, and one cystic lymphangioma), and one because of rapid enlargement of the mass. Seven (54%) patients (including one with tumoral bleeding) received neoadjuvant chemotherapy, and had their tumor diameter decreasing by 40% (range, 0-60%). Final surgery consisted of seven right hepatectomies; one right extended hepatectomy; three mesohepatectomies; two left hepatectomies. There were three incomplete resection in the upfront surgery group versus none in the neoadjuvant chemotherapy group. The degree of tumor necrosis after chemotherapy ranged from 95 to 100%. Surgical complications included the following: liver transplantation (LT) following a Budd-Chiari syndrome after a mesohepatectomy, one biliary ducts injury treated by Roux-en-Y loop. All patients received the postoperative chemotherapy according to the European protocol. One of seven patients (14%) with neoadjuvant chemotherapy underwent radiotherapy for rupture at diagnosis versus three of six patients (50%) with upfront surgery: one for rupture at diagnosis and two for rupture during upfront surgery. One patient (17%) with upfront surgery had local recurrence at 2 years after initial surgery, and is in second complete remission 1 year after a redo surgery. All patients are alive at a median 34 months (range, 5-134) follow-up., Conclusion: USL presents with painful mixed cystic and solid liver mass. If misdiagnosed and mistreated (enucleation or unroofing), the usual good outcome of this malignancy could be impaired. Preoperative chemotherapy is recommended., (Georg Thieme Verlag KG Stuttgart · New York.)