Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype\u2013genotype correlation has been attempted and variable expressivity of biallelic SMARCAL1 variants may be associated with environmental and genetic disturbances of gene expression. We describe two siblings born from consanguineous parents with a diagnosis of SIOD revealed by whole exome sequencing (WES). Results: A homozygous missense variant in the SMARCAL1 gene (c.1682G>A; p.Arg561His) was identified in both patients. Despite carrying the same variant, the two patients showed substantial renal and immunological phenotypic differences. We describe features not previously associated with SIOD\u2014both patients had congenital anomalies of the kidneys and of the urinary tract and one of them succumbed to a classical type congenital mesoblastic nephroma. We performed an extensive characterization of the immunophenotype showing combined immunodeficiency characterized by a profound lymphopenia, lack of thymic output, defective IL-7R\u3b1 expression, and disturbed B plasma cells differentiation and immunoglobulin production in addition to an altered NK-cell phenotype and function. Conclusions: Overall, our results contribute to extending the phenotypic spectrum of features associated with SMARCAL1 mutations and to better characterizing the underlying immunologic disorder with critical implications for therapeutic and management strategies

Characterization of Recycled/Virgin Polyethylene Terephthalate Composite Reinforced with Glass Fiber for Automotive Applications

The use of recycled polyethylene terephthalate (PET) as a matrix for composite materials based on glass fiber reinforced virgin PET could be a cost-effective and environmentally friendly way to upgrade the bottle-grade recycled PET into engineering-grade PET for injection molding. In this work, a commercial virgin PET reinforced with 50%wt of glass fibers was compounded by mechanical mixing with a recycled PET, in order to minimize breakage of the glass fibers. The obtained compound, composed by 60%wt of recycled pet and 40%wt glass fiber reinforced virgin PET, was injection molded at three different mold temperatures (4, 40 and 80 °C) to analyze the effect of crystallization of the material during the production process. The results in terms of thermal and mechanical properties were compared with those obtained from recycled PET molded in the same conditions. The flexural tests and the analysis of thermal resistance showed that by adding 40%wt of glass fiber reinforced virgin PET to the recycled PET causes a noticeable improvement of crystallization kinetics and of mechanical properties with respect to that of the pure recycled PET, making it suitable for technical applications

Administration of Samital® in children with oral mucositis: a feasibility study

OBJECTIVE: SAMITAL®, a botanical drug containing three highly standardized extracts (Vaccinium myrtillus, Macleaya cordata and Echinacea angustifolia), has shown promising results in treating or preventing oral mucositis (OM) in adult patients, but it has not been fully investigated in children. In this study, we assessed the feasibility of SAMITAL administration in pediatric patients receiving anticancer treatment to prevent or treat OM, focusing on identifying an appropriate dose and evaluating safety and tolerability and palatability and treatment compliance. PATIENTS AND METHODS: We conducted an open-label, monocentric, prospective study on 18 children receiving anticancer therapy to prevent or treat OM. RESULTS: No SAMITAL®-related side effects were observed or reported during the study; moreover, no systemic absorption of SAMITAL® metabolites was detected in the bloodstream. However, compliance to SAMITAL® was unsatisfactory and variable (from 2 to 100%), and patients reported low palatability (median taste of 4.8; range 1.0-8.0). CONCLUSIONS: SAMITAL® administration appears to be safe in the pediatric population, as it is not absorbed in the bloodstream and does not cause any local or systemic side effects. However, the current formulation is only partially suitable for children, and future studies on SAMITAL® in children would need an adapted formulation to increase compliance

Laparoscopic concomitant management of an incidental splenic artery aneurysm and splenectomy for trauma after unsuccessful endovascular treatment \u2013 a video vignette

No abstract availabl

Rhabdomyosarcoma with unknown primary tumor site: A report from European pediatric Soft tissue sarcoma Study Group (EpSSG).

BACKGROUND: Rhabdomyosarcoma (RMS) is an aggressive malignancy, and 20% of children present with metastases at diagnosis. Patients presenting with disseminated disease very occasionally have no clear evidence of a primary tumor mass. As these patients have rarely been investigated, we report on a series of patients with RMS and unknown primary tumor site registered in the Metastatic (MTS) RMS 2008 protocol (October 2008 to December 2016) coordinated by the European pediatric Soft tissue sarcoma Study Group. METHODS: Patients were administered nine cycles of induction chemotherapy, and 48 weeks of maintenance chemotherapy. Surgery and/or radiotherapy were planned after the first assessment of tumor response, and implemented after six cycles of chemotherapy. If feasible, radiotherapy to all sites of metastasis was recommended. RESULTS: We identified 10 patients with RMS and unknown primary site, most of them adolescents (median age 15.8 years, range: 4.6-20.4). Nine had fusion-positive alveolar RMS. Multiple organ involvement was identified in seven patients, two only had bone marrow disease, and one only had leptomeningeal dissemination. All patients were given chemotherapy, four were irradiated, and none had surgery. Three patients underwent allogeneic bone marrow transplantation. At the time of this analysis, only two patients are alive in complete remission: one had received radiotherapy; and one had a bone marrow transplant. CONCLUSIONS: RMS with unknown primary tumor occurs mainly in adolescents and is typically fusion-positive alveolar. Radiotherapy may be important, but survival is poor and patients should be offered enrollment in investigational trials

Abdominal masses in the pediatric age: How can a malignancy be excluded?

Il reperto di una massa addominale rappresenta il più comune segno di presentazione di neoplasia solida in età pediatrica; anche se il 45% dei casi riguarda una problematica non maligna come anomalie congenite, tumori, trauma, infezione/ ascesso o ingrossamento d’organo, è importante orientarsi per avviare un corretto iter diagnostico volto a identificare o a escludere tempestivamente un’eventuale neoplasia maligna. Le cause di massa addominale del bambino sono molteplici, è quindi importante identificarne la natura e individuarne la localizzazione mediante un buon esame obiettivo e un’anamnesi esaustiva volta alla ricerca di eventuale sintomatologia associata (Figure 1 e 2). Per esempio la presenza di difficoltà alla defecazione o alla minzione deve far pensare a una massa che ostacola fisicamente il tratto gastrointestinale o genitourinario rispettivamente, mentre la presenza di sintomi sistemici come febbre e/o perdita di peso orienta verso una condizione maligna. Le due neoplasie maligne che più frequentemente si manifestano con massa addominale in età pediatrica sono il neuroblastoma e il tumore di Wilms

Case Report: Circulating Tumor Cells as a Response Biomarker in ALK-Positive Metastatic Inflammatory Myofibroblastic Tumor

Inflammatory myofibroblastic tumors (IMTs) are locally aggressive malignancies occurring at various sites. Surgery is the mainstay of treatment and prognosis is generally good. For children with unresectable or metastatic tumors, however, outcome is particularly severe, limited also by the lack of predictive biomarkers of therapy efficacy and disease progression. Blood represents a minimally invasive source of cancer biomarkers for real-time assessment of tumor growth, particularly when it involves the analysis of circulating tumor cells (CTC). As CTCs potentially represent disseminated disease, their detection in the blood correlates with the presence of metastatic lesions and may reflect tumor response to treatment. Herein, we present a case report of a 19-year-old boy with an ALK-positive IMT of the bladder, proximal osteolytic and multiple bilateral lung lesions, who received ALK inhibitor entrectinib postoperatively and underwent longitudinal CTC analysis during treatment. Antitumor activity of entrectinib was demonstrated and was accompanied by regression of lung lesions, elimination of CTCs from the blood and no development of relapses afterwards. Therapy continued without any clinical sign of progression and 24 months since the initiation of treatment the patient remains symptom-free and disease-free