A rare chromosomal disorder in a newborn: Trisomy 3q.

Kahvecioglu D, Tatar-Aksoy H, Yildiz E, Bakir A, Alioglu B. A rare chromosomal disorder in a newborn: Trisomy 3q. Turk J Pediatr 2019; 61: 271-274. Trisomy 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities. We hereby present a patient with chromosomal karyotype 46, XY, dup (3)(q23-29), which can be classified as pure 3q duplication and has thin sclera and iris dysgenesis, anterior and posterior segment dysgenesis besides the previously identified specific facial features. To the best of our knowledge only 12 cases have been reported with pure duplication in the literature. Our case is the 13th one reported and has noval findings concerning eye involvement. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of genes which are responsible for eye development in this chromosomal region.

[A rare cause of 2:1 atrioventricular block and congestive heart failure in preterm infants: Hypocalcemia]. / Prematüre yenidoganda 2:1 atriyoventriküler blok ve konjestif kalp yetersizliginin nadir bir nedeni: Hipokalsemi.

Atrioventricular (AV) block in the neonatal period is a rare disorder. It is frequently associated with underlying structural congenital heart disease and maternal lupus. Presently described is premature baby who developed 2:1 AV block and congestive heart failure due to hypocalcemia. Dramatic clinical improvement was observed following treatment of intravenous 10% calcium gluconate. Therefore, it is suggested that serum calcium level of newborns with AV block and congestive heart failure be measured.

Early regular versus late selective poractant treatment in preterm infants born between 25 and 30 gestational weeks: a prospective randomized multicenter study.

OBJECTIVE: Surfactant treatment in the early hours of life significantly decreases the rates of death and air leak, and increases survival without bronchopulmonary dysplasia (BPD) in preterm infants. We aimed to compare the impact of early surfactant (ES) administration to late selective (LS) treatment on neonatal outcomes in preterm infants. METHODS: All preterm infants between 25 and 30 wks gestational age and who were not entubated in the delivery room and did not have any major congenital malformation or perinatal asphyxia were randomized to ES treatment (200 mg/kg Curosurf® administration in 1 hour after birth) or LS treatment (200 mg/kg Curosurf®administration in the first 6 h of life if needed). The patients were treated by nasal continuous positive airway pressure (nCPAP) treatment regardless of the surfactant requirement. Outcomes were the necessity of mechanical ventilation, nCPAP duration, the oxygen requirement duration, the rates of BPD, retinopathy of prematurity (ROP) and mortality, and the assessment of the following situations; (pneumothorax, patent ductus arteriosus (PDA), necrotizing enterocolitis (NEC), and intraventricular hemorrhage (IVH) ≥ grade III). RESULTS: Among 159 infants enrolled in the study, 79 were randomized to ES and 80 to LS treatment groups. Thirty-five patients (44%) in the LS treatment group needed surfactant administration. Necessity of second dose surfactant administration was 8.9% in the ES treatment group. Although necessity of mechanical ventilation, nCPAP duration, oxygen need duration, rates of PDA, NEC, BPD, ROP stage >3 and mortality did not show a significant difference between groups, the ES treatment group had lower rates of pneumothorax and IVH ≥ grade III when compared to the LS treatment group. CONCLUSIONS: ES treatment decreases IVH (≥ grade III) and pneumothorax rates but does not have any effect on BPD when compared to LS.

Reference values of oxidative stress biomarkers in healthy newborns.

BACKGROUND: Although oxidative stress-related diseases mostly affect neonates with extremely low birthweight, healthy preterm and term newborns may also be at risk of oxidative damage. There have been studies concerning factors that affect the level of oxidative stress biomarkers in term and preterm neonates, but there has not been a study of the reference values of oxidative stress biomarkers in healthy newborns having no risk factors. The aim of the present study was to clarify this issue. METHODS: Serum total antioxidant capacity (TAC) and total oxidant status (TOS) were assessed by Erel's method. TAC and TOS values were measured in 100 term infants, 57 boys and 43 girls, with a mean gestational age of 39 weeks and a mean birthweight of 3174 g. RESULTS: All blood samples for TAC and TOS were taken on the fifth day. The median TAC and TOS values for all male and female neonates were 1.92 mmol Trolox equivalent/L (min-max; 1.41-2.09) and 12.93 µmol H2O2/L (min-max: 3.01-53.94), respectively. TAC and TOS values were not statistically different in male and female newborns. TAC and TOS values were not statistically different in newborns who had been delivered via a vaginal route or by cesarean section. CONCLUSION: This study can be used as a guide for the reference range of TAC and TOS values for healthy term newborns.

[Acinetobacter baumannii: an important pathogen with multidrug resistance in newborns]. / Acinetobacter baumannii: Yenidoganlarda Çoklu Ilaç Direncine Sahip Önemli Bir Patojen.

Nosocomial sepsis agents with multidrug resistance have led to higher morbidity and mortality in premature infants in the recent years. Acinetobacter baumannii has become a leading cause of nosocomial sepsis in several neonatal intensive care units. In this study, the demographic, clinic, microbiologic characteristics and risk factors of 21 premature infants hospitalized in newborn intensive care unit between January 2010-February 2011 and developed A.baumannii infection, have been evaluated retrospectively. The isolates were identified by conventional methods and antibiotic susceptibility tests were performed by Vitek 2 GN and AST-N090 using Vitek 2 Compact system (BioMerieux, France). A.baumannii was isolated from the blood samples of 10 patients, central venous catheter samples of three patients, CSF samples of two, tracheal aspirate of two and urine sample of one patient. In two patients both blood and central venous catheter samples and in one patient both blood and CSF samples revealed A.baumannii. Gestational age was between 22-30 weeks and birth weight was between 500-1320 grams (17 were < 1000 g) in 19 patients. A.baumannii caused early onset (≤ 3 days) sepsis in four, and late onset (≥ 4 days) sepsis in 17 patients. The main risk factors were detected as mechanical ventilation (n= 20, 95%), prematurity (n= 19, 91%), total parenteral nutrition (n= 17, 81%) and central catheter use (n= 14, 67%). Antibiotics with highest rates of susceptibility were gentamicin (18/21), amikacin (14/21), and colistin (10/21). Twenty (95%) isolates had multiple drug resistance. Amikacin, gentamicin, colistin and imipenem were used for treatment, however 12 infants, 8 of which due to sepsis, died. In conclusion, A.baumannii which is an important nosocomial sepsis agent with multidrug resistance, is increasing in incidence. To control Acinetobacter infections especially in low-birth weight infants, the use of invasive procedures, total parenteral nutrition and broad spectrum antibiotics should be limited and infected patients should be isolated besides establishment of other appropriate infection control measures.