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1.
Biol Blood Marrow Transplant ; 17(7): 1058-66, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21073975

ABSTRACT

The aim of the present study was to identify factors associated with the risk of development of gastrointestinal acute graft-versus-host disease (GI-aGVHD), as well as to evaluate the impact of various baseline parameters on response to treatment, nonrelapse mortality (NRM), and overall survival (OS) in pediatric patients with GI-aGVHD after allogeneic hematopoietic stem cell transplantation (allo-SCT). We retrospectively analyzed 300 pediatric patients who underwent allo-SCT from HLA-matched related or volunteer unrelated donors in our institution. GI tract involvement was observed in 46 out of 133 patients with aGVHD grade II-IV. Severe aGVHD (grade III-IV) was more frequently observed among patients with GI-aGVHD in comparison with patients without GI involvement (P < .001). Treatment with steroids resulted in durable responses in 22/46 patients; 14 additional patients responded to salvage therapy, whereas 10 were refractory to all treatments administered. Using Cox regression analysis, we observed that serum albumin level ≥ 3 mg/dL on day 5 after the initiation of therapy with steroids was statistically significantly associated with decreased hazard of NRM and improved OS (P = .021 and P = .026, respectively). In our study, serum albumin level, early (+ day 5) after the onset of steroids in patients with GI-aGVHD, was a predictor of treatment outcome. Prospective randomized trials need to be performed to verify the predictive significance of serum albumin and the need for early intensification of immunosuppressive treatment.


Subject(s)
Albuminuria/etiology , Gastrointestinal Diseases/etiology , Graft vs Host Disease/etiology , Acute Disease , Adolescent , Albuminuria/urine , Anemia, Aplastic/surgery , Biomarkers , Bone Marrow Transplantation/adverse effects , Cause of Death , Child , Child, Preschool , Diarrhea/drug therapy , Diarrhea/etiology , Diarrhea/immunology , Diarrhea/prevention & control , Diarrhea/urine , Female , Gastrointestinal Diseases/drug therapy , Gastrointestinal Diseases/immunology , Gastrointestinal Diseases/prevention & control , Gastrointestinal Diseases/urine , Graft vs Host Disease/drug therapy , Graft vs Host Disease/immunology , Graft vs Host Disease/prevention & control , Graft vs Host Disease/urine , Humans , Immunosuppressive Agents/administration & dosage , Immunosuppressive Agents/therapeutic use , Infant , Kaplan-Meier Estimate , Male , Methylprednisolone/administration & dosage , Methylprednisolone/therapeutic use , Neoplasms/surgery , Peripheral Blood Stem Cell Transplantation/adverse effects , Proportional Hazards Models , Retrospective Studies , Salvage Therapy , Survival Analysis , Transplantation Conditioning , Transplantation, Homologous/adverse effects , Treatment Outcome , Young Adult
2.
Genet Test Mol Biomarkers ; 13(5): 611-5, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19645625

ABSTRACT

Autism is a neurodevelopmental disorder characterized by clinical, etiologic, and genetic heterogeneity. During the last decade, predisposing genes and genetic loci were under investigation. Recently, mutations in two X-linked neuroligin genes, neuroligin 3 (NLGN3) and neuroligin 4 (NLGN4), have been implicated in the pathogenesis of autism. In our ongoing survey, we screened 169 patients with autism for mutations linked with autism. In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age. The same mutation has previously been found in a patient with autism. It is important that, for the first time, a specific mutation in neuroligins is confirmed in a molecular screen in another homogeneous ethnic population. This finding further contributes to consideration of neuroligins as probable candidate genes for future molecular genetic studies, suggesting that a defect of synaptogenesis may predispose to autism.


Subject(s)
Autistic Disorder/genetics , Carrier Proteins/genetics , Membrane Proteins/genetics , Adolescent , Adult , Base Sequence , Cell Adhesion Molecules, Neuronal , Child , Child, Preschool , Chromatography, High Pressure Liquid , DNA Primers , Exons , Greece , Humans , Male , Mutation
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