Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
☩Howard Morris Australia
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
☩Jill Tate Australia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


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Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Arianna Lucini Paioni
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it



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BC: Articoli scritti da C. Mazzaccara

Un effettivo vantaggio dello screening neonatale allargato
A real benefit of an extended neonatal screening
<p>Methylenetetrahydrofolate Reductase (MTHFR) deficiency, is avery rare congenital defect of folate metabolism, inherited in an autosomal recessive pattern included in newbornscreening (NBS) programs in Italy. It is caused by mutations in the MTHFRgene and is characterized by elevatedplasma homocysteine and borderline-low or normal methionine levels, causing severe neurological signs, recurrentapnoea, microcephaly and convulsions, generally during the neonatal period. An early treatment may prevent theclinical manifestations with a positive impact on patient&rsquo;s health.<br />We report a new case of MTHFRdeficiency, identified during NBS that showed hypomethioninemia 4.6 &mu;mol/L (r.i.6-20). The second level-test revealed hyperhomocysteinemia (106.7 &mu;M, r.i. 5-15). The whole sequencing of theMTHFRgene showed two missense mutation: c.176G&gt;C (p.Trp59Ser), reported as disease causing and the novelc.1769T&gt;G (p.Leu590Arg), classified as likely pathogenetic. The baby was immediately treated with vitamin B12,folate and betaine; after 12 months of follow-up he has no signs or symptoms of the disease.<br />In conclusion, this case report highlights the importance of NBS for inborn errors of metabolism and genetic analysis,that can prevent the establishment of a serious disorder of folate metabolism.</p>
Biochimica Clinica ; 43(2) e12-e16
Casi Clinici - Case Report
 
La biologia molecolare clinica nella valutazione e prevenzione del rischio cardiologico nell’attività sportiva e nell’attività motoria intensa
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity
<p>We review the clinical molecular biology approach for the prevention of cardiological diseases, essentially via risk assessment at personal level by DNA analysis. Intense physical activity, particularly during athletic performances, can result in syncope or even cardiac arrest, often followed by sudden<br />cardiac death. An approach to the prevention of such tragic events is predictive medicine (presence of pathogenic mutations in cardiac genes), besides the conventional tools used in cardiology (mainly electro and echocardiogram under stress conditions). Accordingly, we list the major cardiac diseases and their related genes and derivative proteins which are instrumental for normal heart function. Alterations can occur in ion channel genes, in genes<br />encoding desmosomial and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton at the nuclear envelope, and in genes encoding mitochondrial proteins. Thus, we constructed two sets of gene panels: one set to discriminate among confounding heart diseases, and another set based on a cost-benefit criterion according to the most or less frequent genes bearing pathogenic variants that entail a higher or lower predisposing risk. This<br />approach should be used to monitor pre-participation athletes and also amateurs who belong to families in which at least 1-2 subjects are affected by cardiac alterations. The risk should be identified with the aim to monitor subjects in order to prevent cardiac arrest and even sudden cardiac death.</p>
Biochimica Clinica ; 43(1) 024-043
Rassegne - Review
 
Armonizzazione in Medicina di Laboratorio
Harmonization in Laboratory Medicine
Biochimica Clinica ; 39(6) 546-547
Editoriale - Editorial