Terenziani M.,Italian National Cancer Institute |
D'Angelo P.,G Of Cristina Children Hospital |
Bisogno G.,University of Padua |
Boldrini R.,Bambino Gesu Research Institute |
And 12 more authors.
Pediatric Blood and Cancer | Year: 2010
Background. Teratoma with a malignant somatic component (TMSC) is rare but described in adults, whereas information on pediatric presentation is sparse. Procedure. The Associazione Italiana Ematologia Oncologia Pediatrica identified 14 cases of TMSC. Clinical files and pathology specimens were reviewed. Results. The series (9 female, 5 male) showed the following disease: testis (2), sacrococcygeal (3), ovary (3), retroperitoneum (3), mediastinum (2), and foot soft tissue (1). Distribution of the somatic component was: carcinoma (4), pancreatic neuroendocrine tumor (1), neuroblastoma (3), rhabdomyosarcoma (3), rhabdomyosarcoma plus liposarcoma, chondrosarcoma, neurogenic sarcoma (1), chondrosarcoma plus neuroectodermal sarcoma (1), malignant peripheral nerve sheath tumor (1). Three patients were in stage I, four in stage II, three in stage III, and four in stage IV. All but one patient underwent surgery and only females showed carcinoma components. Nine patients relapsed or progressed and eight died. Six patients are alive and disease-free. Two patients underwent complete resection and four were treated based on transformed histologies. Relapse-free and overall survival rates were 35.7% and 42.8%, respectively (median follow-up, 31 months). Conclusions. Prognosis for germ cell tumors (GCTs) containing MSC is worse than that for GCTs. The pediatric disease appears to be more heterogeneous in tumor site distribution and MSC histology than in adults. Our series suggests no effects of age, histology, or gender on outcome. Surgery has an essential role in localized disease, with complete resection highly desirable. Chemotherapy optimized for histology should include reagents directed to the somatic malignancy, if chemosensitive. Malignant GCT warrants GCT-directed chemotherapy. © 2010 Wiley-Liss, Inc.
Caciotti A.,Meyer Childrens Hospital |
Garman S.C.,University of Massachusetts Amherst |
Rivera-Colon Y.,University of Massachusetts Amherst |
Procopio E.,Meyer Childrens Hospital |
And 29 more authors.
Biochimica et Biophysica Acta - Molecular Basis of Disease | Year: 2011
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were collected and compared with those in literature. In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models. The analysed cohort includes remarkable cases. One patient with GM1 gangliosidosis had a triple X syndrome. One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations. Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease. © 2011 Elsevier B.V.
Pavone M.,Bambino Gesu Research Institute |
Cutrera R.,Bambino Gesu Research Institute |
Verrillo E.,Bambino Gesu Research Institute |
Salerno T.,Bambino Gesu Research Institute |
And 2 more authors.
Pediatric Pulmonology | Year: 2013
Rationale At-home nocturnal pulse oximetry has a high positive predictive value (PPV) for polysomnographically-diagnosed obstructive sleep apnea (OSA) but no studies have been published testing the night-to-night consistency of at-home nocturnal pulse oximetry for the evaluation of suspected OSA in children. We therefore determined the night-to-night consistency of nocturnal pulse oximetry as a diagnostic test for OSA in children. Methods We prospectively studied 148 children (96 male) aged 4.9 ± 2.4 (1.2-11.8) years, referred for suspected OSA. To evaluate night-to-night consistency, we compared an oximetry analysis method, the McGill Oximetry Score (MOS), from two consecutive at-home nocturnal pulse oximetry recordings. Results Pulse oximetry metrics were similar on the two nights. The MOS on the two nights showed excellent night-to-night consistency when analyzed as positive for OSA versus inconclusive, 143/148 (Spearman's correlation coefficient = 0.90). A more detailed analysis using four categories (MOS 1, 2, 3, and 4) of OSA severity showed very good night-to-night agreement, 133/148 (Spearman's correlation coefficient = 0.91). Variability was increased in children younger than 4 years of age compared to older children. Conclusions Night-to-night consistency of nocturnal pulse oximetry as a diagnostic test for OSA showed excellent agreement. Night-to-night consistency of pulse oximetry, as analyzed by the MOS, for diagnosis and severity evaluation further validates this abbreviated testing method for pediatric OSA. Polysomnography (PSG) is required to rule in or rule out OSA in children if a single night oximetry testing is inconclusive. © 2012 Wiley Periodicals, Inc.
Ullmann N.,Imperial College London |
Ullmann N.,Bambino Gesu Research Institute |
Bossley C.J.,Imperial College London |
Fleming L.,Imperial College London |
And 3 more authors.
Allergy: European Journal of Allergy and Clinical Immunology | Year: 2013
Background The inflammatory phenotypes of severe asthma in adults may be reflected in peripheral blood. If this were true in children with severe therapy-resistant asthma (STRA), invasive tests could be avoided. At the moment there is no conclusive evidence in children. Methods All patients underwent blood tests, exhaled nitric oxide (FeNO), sputum induction, bronchoalveolar lavage (BAL) and endobronchial biopsy (EB). Results Sixty-three (71.6%) patients had a normal blood profile and only 1/88 had a combined blood eosinophilia and neutrophilia. 76/88 (86%) had normal blood eosinophils, but of these, 84% had airway eosinophilia in either BAL (n = 43;66%) or EB (n = 41;79%). In children with STRA blood eosinophilia was associated with airway eosinophilia. However, normal blood eosinophil levels did not exclude airway eosinophilic inflammation. Conclusions Peripheral blood counts are not reliable in characterising airway inflammation in severe asthmatic children exposed to high dose steroid therapy, therefore bronchoscopy with BAL should be considered. © 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.