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1.
J Thromb Thrombolysis ; 57(3): 512-519, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38347373

RESUMEN

Patient blood group (BG) is predictive for von-Willebrand-factor (VWF) and Factor VIII variation. The clinical impact of this ABO-effect on blood loss, cardiovascular complications and outcome has been described for several patient cohorts. The aim of this study was to investigate the impact of patient BG on blood loss and outcome after coronary artery bypass surgery (CABG). Patient records, intraoperative data and perioperative transfusion records of 5713 patients receiving an on-pump CABG procedure between 05/2004 and 12/2018 were analyzed. A logistic regression model for death due to perioperative myocardial ischaemia (PMI) was developed from initially 24 variables by using an univariate and multivariate selection process. BG AB patients required less blood transfusions as compared to the other blood groups, especially in case of emergency operations. However, BG AB patients also had a higher mortality which was due to secondary cardiovascular complications. The impact of blood type on the rate of cardiovascular mortality was confirmed in the logistic regression model. BG AB patients have a worse outcome after CABG surgery due to an increased incidence of fatal cardiovascular complications. As perioperative myocardial ischemia due to graft occlusion appears to be the most likely explanation, stricter anticoagulation for BG AB patients should be discussed.


Asunto(s)
Antígenos de Grupos Sanguíneos , Enfermedad de la Arteria Coronaria , Cardiopatías , Isquemia Miocárdica , Humanos , Puente de Arteria Coronaria/efectos adversos , Isquemia Miocárdica/etiología , Enfermedad de la Arteria Coronaria/complicaciones , Cardiopatías/etiología , Hemorragia/etiología , Resultado del Tratamiento
2.
Psychiatr Genet ; 26(6): 293-296, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27668412

RESUMEN

Duplications in 16p11.2 are a risk factor for schizophrenia (SCZ). Using genetically modified zebrafish, Golzio and colleagues identified KCTD13 within 16p11.2 as a major driver of the neuropsychiatric phenotype observed in humans. The aims of the present study were to explore the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus. The exons of KCTD13 were sequenced in 576 patients. The mutations c.6G>T and c.598G>A were identified in one patient each. Both mutations were predicted to be functionally relevant and were absent from the 1000 Genomes Project data and the Exome Variant Server. The mutation c.6G>T was predicted to abolish a potential transcription factor-binding site for specifity protein 1. Altered specifity protein 1 expression has been reported in SCZ patients compared with controls. Further studies in large cohorts are warranted to determine the relevance of the two identified mutations.


Asunto(s)
Cromosomas Humanos Par 16 , Proteínas Nucleares/genética , Esquizofrenia/genética , Adulto , Alelos , Variaciones en el Número de Copia de ADN , Exoma , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad , Variación Genética , Alemania , Humanos , Masculino , Persona de Mediana Edad , Mutación , Proteínas Nucleares/metabolismo
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