In all neonates with liver injury, UVC was malpositioned within the portal circulation. Despite the fact that our report provides only circumstantial evidence for the mechanism of injury, it supports reports which suggest that "low" UVC position increases potential for this type of complication. Acute onset of abdominal distension in a neonate with UVC should prompt ultrasonographic evaluation of position of the catheter tip.

BackgroundDown syndrome (DS) is one of the most common chromosomal abnormalities among newborns. In recent years advances in perinatal and neonatal care have improved chance of survival for the children with DS. The objective of this Registry-Based study was to get more accurate data of DS prevalence with evaluation of antenatal screening, neonatal and maternal features among total births in Croatia from 2009 to 2012.MethodsWe used retrospectively collected data for DS newborns from the medical birth database and perinatal mortality database for the period of 2009–2012. Differences between DS and the referent population for each year in quantitative measures were assessed with the independent t-test. Other differences in nominal and categorical values were analyzed with the chi-square test.ResultsThe total prevalence for DS in the period of 2009–2012 was 7.01 per 10,000 births, while the live-birth prevalence was 6.49 per 10,000 births. The significant differences (p < 0.05) between the DS and reference populations for each year were noticed for birth weight and length, gestational age, mother age, Apgar score of ≥6 after 5 min and breastfeeding. Among newborns with DS, there were 64 (53.33 %) males and 56 (46.67 %) females versus 88,587 (51.76 %) males and 82,553 (48.23 %) females in the reference population. In the DS group compared to the reference population the mean birth weight was 2845 grams versus 3467 grams in males and 2834 grams versus 3329 grams in females, respectively, with a mean birth length of 47 cm versus 50 cm for both genders. The mean gestational age of the DS births was 37 weeks and the mean age of the mothers was 32.6 years, versus 39 weeks and 29.1 years, respectively, in the reference population. Only 68.3 % of children with DS were breastfed from birth, compared with 94.72 % of children in the reference population.ConclusionsThe significant differences for neonatal and maternal features between DS and the referent population were found similar to other studies. The total prevalence of DS in Croatia in the period of 2009–2012 was lower than the previously estimated prevalence based on EUROCAT data. The establishment of a new national registry of congenital malformations covering 99 % of all births in Croatia is necessary to improve the health and prosperity of children, adolescents and adults with DS in Croatia.

Reports on the use of recombinant activated factor VII (rFVIIa) to counteract hemorrhagic shock in neonates and preterm infants are increasing. rFVIIa enhances thrombin generation in situations with impaired thrombin formation and, since thrombin has a crucial role in providing hemostasis, rFVIIa is regarded as a general hemostasis agent. Full thrombin generation is necessary for the formation of a stable fibrin plug resistant to premature fibrinolysis. Antifibrinolytic drugs are not recommended for the treatment of acute bleeding. We report four neonates (one with massive postsurgical hemorrhage after ileostomy and three with severe pulmonary hemorrhage in the course of mechanical ventilation for meconium aspiration syndrome, congenital heart disease and during postoperative resuscitation after cardiac surgery for congenital heart disease) who were successfully treated with multiple administration of rFVIIa (120 microg/kg per dose) and antifibrinolytic therapy - aminocaproic acid (100 mg/kg per dose). In a fibrinolytic environment therapeutic concentrations of rFVIIa may sometimes be insufficient to produce adequate amounts of thrombin necessary for stable clot structure. Laboratory data in three of our patients with pulmonary hemorrhage (low fibrinogen levels with slightly prolonged prothrombin time) supported this thesis, so we blocked fibrinolysis with aminocaproic acid and achieved a complete clinical and laboratory therapeutic effect.

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A 9-month-old infant with hypertrophic clitoris and separated urethral and vaginal opening was diagnosed as having 46,XY incomplete "pure gonadal dysgenesis". Examination of both gonads revealed gonadoblastoma and bilateral salpingo-gonadectomy and partial hysterectomy were performed. Patient is raised as a girl, and clitoroplasty will be done in next several months. The fact that gonadal neoplasia in our patient was found already at the age of 9 months, confirms the need for gonadectomy at the time of diagnosis in the patients with 46,XY gonadal dysgenesis.

We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement.

We investigated mortality, causes, timing and risk factors for death until hospital discharge in very-low-birth-weight (VLBW) infants born in two Croatian perinatal care regions. This retrospective study included 252 live born VLBW infants. The mortality rate until hospital discharge was 30.5% (77/252). VLBW infants who died had by 4 weeks lower gestational age (GA) than surviving infants (median GA, 25 vs. 29 weeks), lower birth weight (BW) (mean BW, 756.4 vs. 1126.4 g), lower 5-minute Apgar score (median 5 vs. 8) and were more often resuscitated at birth (41.6 vs. 19.4%; p<0.001 all). Infants who survived were more often small-for-gestational age (SGA) (28.0 vs. 15.6%; p=0.04) and more often received continuous-positive-airway-pressure (CPAP) in delivery room (13.1 vs. 2.6%; p=0.01). Multivariate logistic regression revealed that parameters influencing death until hospital discharge were 5-minute Apgar score (OR 0.780, 95% CI 0.648-0.939) and higher Clinical Risk Index for Babies (CRIB) score (OR 1.677, 95% CI 1.456-1.931). ROC analysis showed that CRIB score (AUC 0.927, sensitivity 92.2, specificity 81.1; p<0.001) was the strongest predictor of death until hospital discharge. In infants who died within 12 hours, death was most commonly attributed to immaturity and in those surviving >12 hours to necrotizing enterocolitis.

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