By a News Reporter-Staff News Editor at Gene Therapy Weekly -- Fresh data on Immune System Diseases and Conditions are presented in a new report. According to news originating from Florence, Italy, by NewsRx correspondents, research stated, "Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present."
Our news journalists obtained a quote from the research from Children's University Hospital, "Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine
According to the news editors, the research concluded: "The results show that the method having great simplicity, low cost and low process preparations can be fully applicable to a mass screening program."
For more information on this research see: The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry. Journal of Pharmaceutical and Biomedical Analysis, 2014;88():201-206. Journal of Pharmaceutical and Biomedical Analysis can be contacted at: Elsevier Science Bv, PO Box 211, 1000 Ae Amsterdam, Netherlands. (Elsevier - www.elsevier.com; Journal of Pharmaceutical and Biomedical Analysis - www.elsevier.com/wps/product/cws_home/525434)
The news correspondents report that additional information may be obtained from G. la Marca, Meyer Childrens Univ Hosp Florence, Paediat Unit, Florence, Italy. Additional authors for this research include E. Giocaliere, S. Malvagia, S. Funghini, D. Ombrone, M.L. Della Bona, C. Canessa, F. Lippi, F. Romano, R. Guerrini, M. Resti and C. Azzari (see also Immune System Diseases and Conditions).
Keywords for this news article include: Antiarrhythmic Agents, Biotechnology, Pharmaceuticals, Italy, Drugs, Europe, Florence, Genetics, Adenosine, Gene Therapy, Bioengineering, Radiologic Agents, Radiologic Adjuncts, Cardiovascular Agents, Cardiac Stressing Agents, Severe Combined Immunodeficiency, Immune System Diseases and Conditions
Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2014, NewsRx LLC