The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.

Tetrasomy 14q11q13 is a very rare chromosome aberration. So far, only five patients with such an imbalance were described. All these patients had a de novo marker chromosome idic(14)(q13) leading to a partial tetrasomy of chromosome 14. We report on the first case of a de novo non-mosaic partial tetrasomy 14q resulted not from a marker chromosome, but from an inverted triplication on paternal chromosome 14, characterized by using FISH and SNP array. Our patient showed some anomalies described in tetrasomy 14q11q13 with striking presence of paternal UPD(14) features (blepharophimosis, small thorax, and joint contractures, developmental delay). This unique patient supports the hypothesis that 14q11q13 may contain imprinted gene(s) that contribute to the paternal UPD(14) features of joint contractures and/or blepharophimosis. This patient demonstrates the utility of parent of origin testing in patients with de novo chromosome 14 aberrations. Overdosage of 14q11.1q13.1 may cause some features related to UPD(14) phenotype.

A multicenter randomized controlled trial comparing effectiveness of two nasal continuous positive airway pressure devices in very-low-birth-weight infants.

OBJECTIVE: Many studies suggest nasal continuous positive airway pressure is an effective and relatively complication-free means of respiratory support in premature infants. However, only limited data exist regarding the practical aspects of nasal continuous positive airway pressure delivery, including the best way to provide the positive airway pressure. DESIGN: Our aim was to compare the results of treatment using two different nasal continuous positive airway pressure devices: variable flow Infant Flow and constant flow nasal continuous positive airway pressure in two different groups of very-low-birth-weight infants in a multicenter randomized controlled trial. The indication groups were elective to avoid intubation and weaning from mechanical ventilation. SETTING: Twelve leading tertiary care neonatal centers in Poland. PATIENTS: Among 276 infants (weighing between 750-1500g, with a gestational age ≤32 wks) enrolled, 51% were randomized to receive Infant Flow and 49% to receive constant flow nasal continuous positive airway pressure. MEASUREMENTS AND MAIN RESULTS: Treatment success (i.e., no need for intubation/reintubation) occurred in 75% of our patients with a nonstatistically significant advantage seen with Infant Flow. The incidence of severe nasal complications and necrotizing enterocolitis were statistically significantly lower in the infants treated with Infant Flow. In our study, factors associated with elective nasal continuous positive airway pressure failure were birth weight ≤1000 g, gestational age ≤28 wks, clinical risk index for babies score >1, and PaO(2)/FIO(2) ratio of <150. Only birth weight ≤1000 g was associated with weaning failure. CONCLUSIONS: We found fewer severe nasal complications but no statistically significant advantage in treatment success in infants assigned to Infant Flow nasal continuous positive airway pressure compared with those assigned to constant flow nasal continuous positive airway pressure treatment. Significant risk factors of treatment failure include small size, maturity, and severity of respiratory distress syndrome.

The influence of cord blood renalase and advanced oxidation protein products (AOPPs) on perinatal and anthropometric parameters of newborns of mothers with gestational hypertension.

BACKGROUND: Renalase is an enzyme secreted by the kidneys, which takes part in the regulation of arterial pressure, myocardial contractility and modulation of vascular resistance, but its effect on renalase levels in newborns has not been studied yet. The levels of advanced oxidation protein products (AOPPs) were also evaluated as a marker of oxidative stress. OBJECTIVES: This study examined whether renalase and AOPP levels are different in the cord blood of newborns exposed to gestational hypertension (HT). The association of both factors with perinatal and anthropometric data among the studied patients was assessed. MATERIAL AND METHODS: The study included 89 newborns: 30 newborns from the study group, whose mothers were diagnosed with gestational HT, and 59 newborns born from normal pregnancies, who formed the control group. Anthropometric measurements and perinatal data in newborns in both groups were recorded. RESULTS: A significantly lower (p < 0.001) concentration of renalase was found in the study group (median (Q1-Q3): 23.96 µg/mL (20.63-26.91 µg/mL)) as compared to the control group (median (Q1-Q3): 37.54 µg/mL (33.78-40.02 µg/mL)). In case of AOPPs, a significantly higher (p < 0.001) concentration of AOPPs was observed in the study group (median (Q1-Q3): 131.65 µmol/L (113.80-146.10 µmol/L)) than in the controls (median (Q1-Q3): 93.70 µmol/L (87.10-111.20 µmol/L)). CONCLUSIONS: A significant difference between renalase and AOPP concentrations between the study and control groups has been demonstrated. Both factors may influence anthropometric and perinatal outcomes of newborns.

Identification of risk factors in pre-term infants with abnormal general movements.

Introduction: This study aimed to investigate the relationship between prenatal, perinatal, and postnatal risk factors for neurodevelopmental impairment (NDI) with the outcomes of General Movement (GM) Assessment (GMA) in pre-term infants at 3-5 months of age. We sought to identify the risk factors associated with the predictors of psychomotor development in pre-term newborns, such as normal fidgety movements (FMs), absent FMs, or abnormal FMs, assessed during the fidgety period of motor development. Methods: The SYNAGIS program (prophylactic of Respiratory Syncytial Virus Infection) was used to identify risk factors for the development of neuromotor deficits in 164 pre-term infants who were at high risk of developing these deficits. Based on the GMA, all participants were divided into three groups of infants who presented: (1) normal FMs; (2) absent FMs; and (3) abnormal FMs. Results: The results of the current study suggest that abnormal GMs not only indicate commonly known factors like birth asphyxia (BA), respiratory distress syndrome (RDS), periventricular leukomalacia (PVL), intraventricular hemorrhage (IVH) grades 3-4, but also predict the development of motor impairments. In the present study, several specific risk factors including bronchopulmonary dysplasia (BPD), infertility treatments, maternal acute viral/bacterial infections during pregnancy, and elevated bilirubin levels were identified as attributes of an atypical fidgety movement pattern. Conclusions: Additional clinical data, such as risk factors for NDI associated with early predictors of psychomotor development in pre-term newborns, i.e., absent or abnormal FMs, may be helpful in predicting neurological outcomes in pre-term infants with developmental concerns in the 1st month of life.

[Congenital sternal cleft: a case report]. / Wrodzony rozszczep mostka ­ opis przypadku.

Sternal cleft is a very rare congenital defect of sternum, reported only in limited number of publications. Surgical treatment in neonatal period is preferred. The case of child with congenital sternal cleft operated in 17 month of life with successful outcome of repair was reported.

The influence of gestational hypertension on cord blood adiponectin levels: a case-controlled study.

INTRODUCTION: Gestational hypertension is one of the most common complications of pregnancy and childbirth worldwide and may be associated with metabolic disorders. Adiponectin is an adipocyte-specific plasma protein with insulin-sensitizing, vascular-protective, anti-inflammatory properties, and its role in metabolic disorders in prenatal and postnatal development in neonates remains unclear. The primary purpose of this study was to determine whether gestational hypertension is a condition lowering cord blood adiponectin level. Next, we have evaluated whether cord blood adiponectin level correlates with selected anthropometric parameters in neonates. MATERIAL AND METHODS: The case-control study included 89 newborns divided into two groups: 30 neonates in the study group whose mothers were diagnosed with gestational hypertension and 59 healthy neonates born from normotensive pregnancies. Adiponectin determinations were performed in both groups, and neonatal anthropometric measurements and perinatal data were collected. RESULTS: There was no statistically significant difference (p = 0.27) between adiponectin concentration in cord blood of newborns from the study group [median (Q1-Q3) 9.86 µg/ml (8.16-13.26 µg/ml)] compared with the control group [median (Q1-Q3) 10.65 µg/ml (8.69-14.29 µg/ml)]. No statistically significant correlations were observed between adiponectin level and gestational age, body weight, body length, and chest circumference. A significant correlation was observed between adiponectin level and head circumference among newborns in the control group and among the entire population of newborns included in the study. CONCLUSION: No significant influence of gestational hypertension on cord blood adiponectin levels or their correlation with neonatal anthropometric measurements was observed.

An analysis of factors determining serum leptin concentration in healthy and infected newborns.

OBJECTIVE: The effect leptin on fetal growth in healthy and infected newborns is not well known. This study is aimed at: 1) evaluating serum leptin concentration in full term and preterm, healthy and infected newborns, according to their gender, birth asphyxia, intrauterine and neonatal infections, and 2) assessing the correlation between serum leptin levels and anthropometric parameters among healthy and infected newborns. MATERIALS AND METHODS: The study involved 146 newborns: 73 full-term and 73 preterm, 86 male and 60 female, 56 healthy and 90 infected, aged from 2nd to 4th day of life. Anthropometric parameters, including: birth weight, length, head and chest circumference, and serum leptin concentration were measured in all the subjects. Intrauterine and neonatal infections were diagnosed by the standard criteria. RESULTS: In this study, it was found that both healthy and infected, but full-term newborns had significantly higher mean leptin concentration than the premature ones (p<0.05). Statistically significant (p<0.05), positive correlations were found between serum leptin level and gestational age, birth weight, head and chest circumference, both in healthy, and in infected newborns. CONCLUSIONS: Findings of this study suggest that the serum leptin concentration in full term newborns is higher than in the preterm ones, and in females it is higher than in males, 2) among both healthy and infected newborns, there is a positive, linear correlation between the serum leptin concentration and anthropometric parameters, 3) intrauterine and neonatal infections do not have a significant influence on serum leptin concentration. The role of leptin in fetal growth deserves further research.

Effect of intrauterine infection and perinatal risk factors on serum concentrations of insulin like growth factor (IGF-I) in full-term and preterm newborns.

OBJECTIVES: IGF-I is believed to be a key factor in fetal growth dynamics It is widely known, that serious early-onset infection in the newborn is a risk factor for further developmental disturbances in a child. However, effect of congenital infection as well as an influence of infectious and non-infectious perinatal risk factors on circulating IGF-I concentrations in newborns has not been examined, yet. DESIGN: Thus, the aim of this study was: 1) evaluation of IGF-I venous blood serum concentration in full-term and premature infants considering their sex, occurrence of intrauterine infection and perinatal risk factors; 2) establishing the relationship between IGF-I serum concentrations and chosen anthropometric parameters values in infected and healthy newborns. SETTING: The study involved 112 newborns appropriate for gestational age. Taking into consideration occurrence of early onset infection and gestational age we divided examined children into 4 groups: I group--infected, full-term newborns; II group--infected premature newborns; III group--healthy full-term newborns; IV group--healthy premature newborns. In all infants immediately after birth anthropometric measurements were performed (birth weight, body length, circumference of head and circumference of chest) and serum IGF-I concentration was determined. RESULTS: We demonstrated that full-term infants with intrauterine infection have statistically significantly higher concentration of IGF-I in blood serum than infected premature infants and healthy full-term infants. Analysis of correlation revealed a significant positive linear correlations between IGF-I serum concentration and gestational age and anthropometric parameters values. CONCLUSIONS: We conclude that intrauterine infection increases serum IGF-I concentration in full-term infants, but not in preterm infants, that may be a result of immaturity. We suggest serum IGF-I concentration may be considered an additional element of developmental and nutritional state assessment in infected newborn.

[Quantitative changes of CD3+, CD4+, CD8+, HLA-DR+, T lymphocytes and CD25+ cells in eutrophic full-term neonates with staphylococcal septicemia]. / Zmiany ilosciowe limfocytów CD3+, CD4+, CD8+ i HLA-DR+ oraz komórek CD25+ u eutroficznych noworodków donoszonych z posocznica gronkowcowa.

OBJECTIVE: Influence of staphylococcal septicemia on changes of share and changes of amount of CD3+ lymphocytes and their subpopulation as well as CD25+ cells in eutrophic full-term neonates. MATERIALS AND METHODS: In 52 full-term neonates, with birthweight ranged from 2900 to 4500 g, including 30 infants with staphylococcal septicemia caused by Staphylococcus epidermidis (19 cases), S. sciuri (2 cases) S. varneri, S. hominis, S. haemolyticus and S. aureus (6 cases) and 22 healthy neonates (control group) the subpopulation of CD3+, CD4+, CD8+, HLA-DR+ lymphocytes in venous blood was estimated using flow cytometer FACScan with monoclonal antibodies of Becton Dickinson. RESULTS: Average percentage of CD3+ (69.2 +/- 5.9%), CD4+ (48.9 +/- 10.7%) and HLA-DR+ (1.8 +/- 0.9%) lymphocytes and average CD4+/CD8+ ratio (2.97 +/- 1.33) in neonates with septicemia did not significantly differ from average values of these parameters in healthy neonates that were: CD3+ (69.1 +/- 9.0%), CD4+ (47.4 +/- 10.6%), HLA-DR+ (1.5 +/- 0.5%) and CD4+/CD8+ (2.29 +/- 1.29). Likewise the average numbers of these lymphocytes were close to the values found in the control group. Whereas the average subpopulation of CD8+ (19.2 +/- 4.6%) lymphocytes in ill neonates was significantly lower (p = 0.007) than in healthy ones (23.6 +/- 6.6%), and the average number of CD25+ cells was essentially (p = 0.01) higher in septicemia neonates (8.5 +/- 2.5) compared to the control group (6.6 +/- 1.3%). Average numbers of these cells in ill neonates did not substantially differ from their average values in control group. CONCLUSIONS: 1. Staphylococcal septicemia significantly decreases the values of subpopulation of CD8+ lymphocytes and increases the number of CD25+ cells in eutrophic full-term neonates. 2. Estimation of lymphocytes, and their subpopulation and CD25+ cells in neonates with staphylococcal septicemia may be useful in assessment of immunological changes in severe infections.

[Spirometric tests in school-age children with past bronchopulmonary dysplasia]. / Ocena wybranych parametrów spirometrycznych u dzieci szkolnych z przebyta dysplazja oskrzelowo-plucna.

The aim of the paper was to estimate 9 spirometric parameters in 38 children aged 8-12, among them in16 with past bronchopulmonary dysplasia and in 22 healthy ones. Mean values of VC, FEV1, FVC Ex, PEF, MEF 75, MEF 50 and MEF 25 in children with past bronchopulmonary dysplasia were significantly lower than in healthy children. In children with past bronchopulmonary dysplasia VC was decreased comparing to normal values in 94% of cases, FVC Ex and MEF 50 in 75% and FEV1 in 63% of subjects. Tiffeneau coefficient and value of FEV1% FVC Ex were normal. Inhaled salbutamol increased significantly the mean values of VC and MEF 25 in children with dysplasia. The increase of FEV1 > 15% in 56% and VC > 15% only in 25% of these children was observed. It was found, that past bronchopulmonary dysplasia induces ventilatory disorders, mainly restriction changes with obstruction component in airways of school-age children.