{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T19:10:48Z","timestamp":1780600248149,"version":"3.54.1"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Introduction\u2003An underlying thrombocytopathy seems to be responsible for hemorrhagic symptoms in patients diagnosed with 22q11.2 deletion syndrome (22q11DS) or Noonan syndrome (NS). In 22q11DS, it is explained by a defect in the membrane glycoprotein (GP) complex Ib-V-IX. The cause of thrombocytopathy in NS remains unclear.<\/jats:p><jats:p>\n          Aim\u2003The objective is to study the incidence of thrombocytopathy in pediatric patients diagnosed with 22q11DS or NS assessing the utility of ISTH-BAT questionnaire and laboratory techniques.<\/jats:p><jats:p>\n          Materials and Methods\u2003Prospective study between March and December 2018 in children (2\u201318 years old) diagnosed with 22q11DS or NS. Hemorrhagic symptoms using ISTH-BAT score, total cell blood count, platelet indices, PFA-200 closure times, and platelet aggregation were evaluated in all patients and membrane GP expression in 22q11DS patients.<\/jats:p><jats:p>\n          Results\u2003Nearly 70% of NS patients (n\u2009=\u200922) had a platelet aggregation defect without thrombocytopenia. A defect of platelet aggregation with adenosine diphosphate (ADP) and epinephrine was the most frequent pattern. A statistically significant inverse correlation between closure times and aggregation with arachidonic acid (p\u2009=\u20090.049, p\u2009=\u20090.043) and epinephrine (p\u2009=\u20090.021, p\u2009=\u20090.035), and ADP (p\u2009=\u20090.117, p\u2009=\u20090.05) was found. Total 5 out of 29 patients diagnosed with 22q11DS had macrothrombocytopenia; more noteworthy in older patients. Twenty-six patients showed an impairment in ristocetin-induced platelet aggregation that correlated with prolonged collagen\/epinephrine (p\u2009=\u20090.034) and collagen\/ADP (p\u2009=\u20090.01). A significant association between ISTH-BAT score &gt;3 and closure times (p\u2009=\u20090.022, p\u2009=\u20090.002) and aggregation defect with ristocetin (p\u2009=\u20090.043) was also demonstrated.<\/jats:p><jats:p>\n          Conclusion\u2003Most NS and 22q11DS patients show an impairment of platelet aggregation that correlates with closure times. In 22q11DS patients, these results were also related to hemorrhagic symptoms.<\/jats:p>","DOI":"10.1055\/s-0040-1701239","type":"journal-article","created":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T23:37:27Z","timestamp":1583451447000},"page":"457-465","source":"Crossref","is-referenced-by-count":9,"title":["Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood"],"prefix":"10.1055","volume":"120","author":[{"given":"Anna","family":"Ruiz-Llobet","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Hospital Sant Joan de D\u00e9u de Barcelona (IRP-HSJD), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Isola","sequence":"additional","affiliation":[{"name":"Department of Laboratory, Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Department of Pathology, CDB, Hospital Cl\u00ednic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Gassiot","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Department of Laboratory, Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Catal\u00e0","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Hospital Sant Joan de D\u00e9u de Barcelona (IRP-HSJD), Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBER ER), Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maribel","family":"D\u00edaz-Ricart","sequence":"additional","affiliation":[{"name":"Department of Pathology, CDB, Hospital Cl\u00ednic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio F.","family":"Mart\u00ednez-Monseny","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), CIBERER U-703, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Department of Pediatric Neurology, U-703 CIBERER, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rub\u00e9n","family":"Berrueco","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Hospital Sant Joan de D\u00e9u de Barcelona, Universitat de Barcelona, Barcelona, Spain"},{"name":"Institut de Recerca Hospital Sant Joan de D\u00e9u de Barcelona (IRP-HSJD), Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBER ER), Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,3,5]]},"container-title":["Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1701239.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T23:37:55Z","timestamp":1583451475000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1701239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2020,3,5]]},"published-print":{"date-parts":[[2020,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1701239","relation":{},"ISSN":["0340-6245","2567-689X"],"issn-type":[{"value":"0340-6245","type":"print"},{"value":"2567-689X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3]]}}}