Perinatal hypoxia-ischemia is a specific and important pathological event in neonatal care practice. The data on relationship between the concentrations of cytokines in blood and cerebrospinal fluid (CSF) and perinatal brain injury are scarce. The aim of this study is to evaluate changes in interleukin (IL-1β, IL-6, and IL-18) and tumor necrosis factor alpha (TNF-α) levels in newborns with perinatal hypoxia (PNH). CSF and serum samples of 35 term and near-term (35-40 weeks) newborns with PNH, at the age of 3-96 hours, were analyzed using enzyme-linked immunosorbent assay. Control group consisted of 25 non-asphyxic/non-hypoxic infants of the same age sampled for clinically suspected perinatal meningitis, but proven negative and healthy otherwise. The cytokine values in CSF and serum samples were determined in relation to initial hypoxic-ischemic encephalopathy (HIE) staged according the Sarnat/Sarnat method, and compared with neurological outcome at 12 months of age estimated using Amiel-Tison procedure. The concentrations of IL-6 and TNF-α in serum of PNH patients were significantly higher compared to control group (p = 0.0407 and p = 0.023, respectively). No significant difference between average values of cytokines in relation to the stage of HIE was observed. Significantly higher levels of IL-6 and IL-18 corresponded to a mildly abnormal neurological outcome, while higher levels of IL-6 and TNF-α corresponded to a severely abnormal neurological outcome, at 12 months of age. Elevated serum levels of IL-6 and TNF-α better corresponded with hypoxia/ischemia compared to CSF values, within 96 hours of birth. Also, higher serum levels of IL-6, TNF-α, and IL-18 corresponded better with abnormal neurological outcome at 12 months of age, compared to CSF values.

Prematurity is a risk factor for respiratory syncytial virus (RSV)-associated lower respiratory tract infections (LRTIs), due to immature humoral and cell-mediated immune system in preterm newborns, as well as their incomplete lung development. Palivizumab, a humanized monoclonal antibody against the F glycoprotein of RSV, is licensed for the prevention of severe RSV LRTI in children at high risk for the disease. This study is a part of a larger observational, retrospective-prospective epidemiological study (PONI) conducted at 72 sites across 23 countries in the northern temperate zone. The aim of our non-interventional study was to identify common predictors and factors associated with RSV LRTI hospitalization in non-prophylaxed, moderate-to-late preterm infants, born between 33 weeks and 0 days and 35 weeks and 6 days of gestation, and less than 6 months prior to or during the RSV season in Bosnia and Herzegovina (B&H). A total of 160 moderate-to-late preterm infants were included from four sites in B&H (Sarajevo, Tuzla, Mostar, and Banja Luka). We identified several significant intrinsic and extrinsic factors to be associated with the risk of RSV LRTI hospitalization in the preterm infants, including: comorbidities after birth, shorter hospital stay, admission to NICU/PICU while in the maternity ward, household smoking, low maternal age, breast feeding, number of family members, and history of family/paternal atopy. Overall, our results indicated that the risk of RSV LRTI in preterm newborns can be associated with different environmental and social/cultural factors, and further research is needed to comprehensively evaluate these associations.

BackgroundCarriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified by the impact of the partner chromosome imbalance. Familial transmission studies of RCT enable obtaining empirical risk figures that are essential for genetic counseling. In this study, pedigree data from carriers of a unique t(4;19)(p15.32;p13.3), ascertained by two children with WHS phenotype, were collected through five generations and empirical risk for different pregnancy outcomes was assessed. In addition, the phenotype-karyotype correlation was studied in two unbalanced children against the phenotypes of children (literature data) with pure monosomy 4p15.32 → pter and pure trisomy 19p13.3 → pter, accordingly. The phenotype analysis was conducted using the catalogue of traits according to the Munich Dysmorphology Database. Pedigree segregation analysis was conducted by the direct method according to Stengel- Rutkowski et al.ResultsA double segment imbalance, trisomy 19p13.3 → pter with monosomy 4p15.32 → pter, was diagnosed in WHS progeny at birth. No essential modification of WHS phenotype by the additional trisomy 19p was observed, except for a limited survivability (death in infancy). Pedigree segregation analysis covered 39 relatives showed the probability rate for liveborn with unbalanced karyotype of 3.7 ± 3.6% (1/27), for stillbirth/neonatal death at 7.4 ± 5.0% (2/27), for miscarriage at 22.2 ± 8.0% (6/27), for the chance of having a baby without unbalanced karyotype was estimated at 66.7 ± 9.1% (18/27). In addition, the value of 7.4% for genetic counseling for any carrier of RCT at risk for single segment 19p13.3 → pter imbalance at birth was evaluated as such value have not been estimated so far.ConclusionCarriership of a t(4;19)(p15.32;p13.3) is at low risk for an unbalanced child at birth and for stillbirth/neonatal death but high for miscarriages. The chance of having a baby without unbalanced karyotype was estimated to be high. Monosomy 4p15.32 → pter together with trisomy 19p13.3 → pter as a double segment imbalance in children with WHS may be connected with a limited survivability in infancy.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-017-0330-8) contains supplementary material, which is available to authorized users.

Uvod: Down sindrom (DS) je najčešća kromosomopatija koja se pojavljuje u novorođenačkoj populaciji djece u regiji zapadne Hercegovine (zH). Praćenjem incidencije kroz više desetljeća u ovoj regiji povećali smo razumijevanje i zdravstvenog i sociokulturnog standarda u pristupu djeci s ovim osobitim sindromom. Cilj ove analize petogodišnjeg razdoblja bio je dobiti uvid u osnovne epidemiološke karakteristike novorođenčadi sa SD u razdoblju od 2016. do 2020.g. Ispitanici i metode: Proveli smo retrospektivnu analizu bolničke dokumentacije na Klinici za dječje bolesti SKB Mostar. Ispitanici su bili djeca liječena zbog Down sindroma. Rezultati: U tom razdoblju bilo je 8851 živorođene novorođenčadi u regiji zH. Bilo je 15 živorođene djece s DS. Incidencija DS za to razdoblje iznosi 1,69/1000 novorođenih. Abortirani i mrtvorođenčad se nisu analizirali. Bilo je sedmero dječaka (47 %) i osam djevojčica (53 %). Sva djeca su citogenetski analizirana, svi su bili regularni tip trisomije 21. Devet majki (60 %) je bilo starije od 35 g. Major malformacije (MM) su nađene u sve novorođenčadi, najčešće su bile prisutne malformacije kardiovaskularnog sustava (67 %). Šestero (40 %) je imalo više od šest karakterističnih minor stigmi (mM). 80 % djece rođeno je nakon 37 tjedana gestacije. 87 % majki je imalo urednu trudnoće. U 93 % novorođenčadi s DS postnatalni ishod je bio uredan. Jedno novorođenče je imalo smrtni ishod. Zaključak: Prevalencija DS u regiji zapadne Hercegovine kroz zadnjih pet godina je neznatno niža od one u prijašnjem desetljeću. Nešto je viša od one u zapadnim regijama Europske unije. Bolja perinatalna zaštita i dobri ishodi djece s DS optimizirali su i humanizirali pristup novorođenčetu s DS.