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Congenital heart disease(CHD) is the most frequent malformative pathology seen in newborns, with an incidence of 10/1000 births, and is considered a major cause of neonatal morbidity and mortality. About one third of congenital heart disease cases are of genetic origin, particular copy number variations being described as possible nonsyndromic and syndromic congenital heart disease causes. Here, we set out to find whether the MLPA technique could be used as a first-tier screening assay in newborns with apparently nonsyndromic CHDs, and thus to genetically confirm the CHD diagnosis. The study cohort included 60 newborns diagnosed with apparently nonsyndromic congenital heart disease, recruited for a period of 18 months. MLPA analysis was performed using the SALSA MLPA P311 and P250 kits. 10 newborns (16.67%) showed known genetically relevant copy number variations, namely three patients with 22q11.21 deletion, that were diagnosed with DiGeorge syndrome, and seven patients with a probable single exon 8p23.1 duplication that will be subjected to further molecular testing, in order to correctly assess their diagnosis. We can conclude that the screening of patients with apparently nonsyndromic congenital heart disease may lead to their early and correct diagnosis, and thus them benefitting from the detection of clinically relevant copy number variations using the MLPA technique.

What is presently known is that thromboembolic disease represents a major cause of morbidity and mortality during pregnancy. To this we add a rare but not negligible pathology, acquired and inherited thrombophilia, which increases the predisposition for thrombotic events during pregnancy. In this article, what has been studied is the impact that LMWH has on patients with inherited thrombophilia, both the conventional FV, FII and the newly introduced MTHFR, PAI, FXII, factors which are often combined.81 patients have been taken into consideration / included in study, with the following anterior results, before the patients discovered their illnesses, thus before following treatment: first trimester or advanced pregnancy loss, IUGR, premature birth or secondary placental thrombotic complications such as: preeclampsia, DPPNI or dead fetuses, as well as maternal thrombotic accidents. The administration of LMWH decreased the rate of pregnancy loss compared to untreated pregnancies is statistical significant (p= 0.004), there were fewer DPPNI (p= 0.006), and no intrauterine deaths. We also compared the occurrence of thrombotic events during treated and untreated pregnancies and we observed significant differences in this groups (p= 0.001). There was also a sufficient number of patients with new types of thrombophilia included in the study to demonstrate the impact it has on pregnancy. LMWH improves the situation of women with thrombophilia during pregnancy.

The aim of this study was to evaluate the correlation between serum and tissue level of the Neutrophil gelatinase-associated lipocalin (NGAL), a peptide that seems to be predict the postoperative evolution of patients with high abdominal pressure. From 30 consecutive patients hospitalized in the Intensive Care Unit, we have randomly selected five cases that undergo abdominal surgical interventions, received postoperative mechanical ventilation and abdominal pressure was monitorized for at least 48 hours. In all of these cases, the plasmatic level of NGAL was measured using the Elisa method and immunohistochemical (IHC) stains with the anti-NGAL biomarker were performed in the surgically removed tissues. All of the five patients were overweight, showed high serum level of NGAL (over 950 ng/ml) and died with postoperative or septic shock. The NGAL serum level was not correlated with the abdominal pressure. No IHC positivity was observed in the examined tissues, except NGAL positivity for intravascular neutrophils. In conclusion, the postoperative high serum NGAL level may indicate unfavorable evolution. NGAL seems to be syntesized by the circulating neutrophils and its preoperative tissue expression does not reflect the serum value.