Can neonates born at 34 weeks be classified as late preterm?

Objectives: In recent years, much attention has been given to infants born prematurely, at 34 0/7 to 36 6/7 weeks of gestation (WG), which have been classified as ‘late preterm’. Neonates from that subgroup are less physiologically and metabolically mature than term infants. The aim of the study was to determine whether infants born at 34WG can be classified as ‘late preterm’ or ‘preterm’ newborns. Material and methods: A total of 141 newborns were included in the study: 25 born ≤ 33WG, 53 late-preterm newborns, and 63 term infants. Cord-blood neutrophil gelatinase-associated lipocalin (NGAL) and creatinine concentrations were measured in all newborns. Also, the incidence of clinical complications in the early adaptive period during hospitalization was evaluated. Results: Higher NGAL concentration was noted among preterm newborns as compared to late-preterm neonates (p < 0.05), and term newborns (p < 0.05), especially in children born at 34WG as compared to 35WG (p < 0.001). However, no differences in NGAL concentration were found between neonates born at 35WG and 36WG, as well as children born at 36WG and term infants. A relationship between umbilical NGAL levels and gestational age was observed. Additionally, a statistically significant difference was found in the incidence of respiratory distress syndrome (p < 0.05) and infections (p < 0.05) among neonates born at 34WG as compared to 35WG. Conclusions: Late preterm neonates should be defined as ‘preterm’ between 35 0/7 and 36 6/7 WG. Infants born at 34WG should be included in the preterm group

Activin A as a possible marker for hypoxia and intraventricular haemorrhage in newborns

Abstract The article presents general information about activin A, a glycoprotein that belongs to the transforming growth factor β superfamily. Structure, mechanism and role of activin as a possible marker of hypoxia and intraventricular haemorrhage were described

Early origins of metabolic syndrome

Zespół metaboliczny (MS; zespół X) definiujemy jako współwystępowanie otyłości trzewnej, nadciśnienia tętniczego, nietolerancji glukozy lub cukrzycy typu 2 oraz zaburzeń gospodarki lipidowej. Najnowsze doniesienia naukowe, wskazujące na silny wpływ stanu metabolicznego matek na możliwość rozwoju otyłości lub MS u ich potomstwa, rzuciły światło na nasze rozumienie teorii „płodowego programowania metabolizmu”. Zgodnie z tą hipotezą, ekspozycja płodu na czynniki środowiska wewnątrzmacicznego może mieć dalekosiężne skutki w postaci wpływu na stan jego zdrowia w przyszłości, a także predyspozycję do rozwoju otyłości, hiperinsulinemii czy nadciśnienia tętniczego. Temat jest szczególnie istotny, biorąc pod uwagę fakt stałego wzrostu występowania otyłości, cukrzycy i MS w populacji ogólnej, których charakter przybiera postać epidemii. Celem autorów niniejszej pracy jest przegląd najnowszego piśmiennictwa dotyczącego tej tematyki.Metabolic syndrome (syndrome X) is combination of medical disorders such as central obesity, hypertension arterialis, glucose intolerance or diabetes type 2 and dyslipidemia. The results of recently reported investigations which demonstrate the powerful influence of the mother’s metabolic state on whether the offsprings developes obesity or metabolic syndrome shed new light on our understanding of „fetal metabolic programming”. According to this hypothesis exposition of the fetus to the intrauterine milieu can have profound effects on health of the offsprings and it is predisposition to some of diseases such as obesity, hyperinsulinemia or hypertension. The topic is especially germane, considering the word-wide rise in the incidence and prevalence of obesity, metabolic syndrome, and type 2 diabetes, which are increasingly being characterized as an epidemic. The aim of this study was to review the newest opinion concerning this topic

Umbilical cord blood NGAL concentration as an early marker of perinatal asphyxia in neonates

Introduction: Recent reports have revealed increased concentration of neutrophil gelatinase-associated lipocalin (NGAL) in cardiovascular diseases and after episodes of hypoxia. We hypothesized that elevated plasma NGAL levels could be a result of vascular endothelial injury due to perinatal asphyxia. Materials and methods: Ninety-three newborns with a gestational age ≥37 weeks, of which 32 newborns were asphyxiated (study group), and 61 were healthy children (control group), were enrolled in the study. Serum NGAL, lactate and creatinine concentrations, acid-base balance, neutrophil and white blood cell count were measured in the umbilical cord blood. Results: Asphyxiated newborns had a significantly lower pH value (7.0 vs. 7.3;

Umbilical markers of perinatal hypoxia

Cel pracy: Ocena przydatności oznaczenia aktywiny A oraz NGAL, jako wczesnych markerow niedotlenienia okołoporodowego. Materiał i metody: Prospektywnym badaniem objęto 58 donoszonych noworodkow. Grupę badaną stanowiły 24 noworodki z niedotlenieniem okołoporodowym, a 34 zdrowe dzieci - grupę kontrolną. Uzyskano probki krwi pępowinowej od wszystkich uczestnikow, natychmiast po odpępnieniu, w celu oznaczenia stężenia aktywiny A oraz NGAL. Badano związek pomiędzy stężeniem markerow a biochemicznymi wykładnikami niedotlenienia i powikłaniami u noworodkow. Wyniki: Stężenie aktywiny A było znamiennie wyższe u niedotlenionych noworodkow w porownaniu z dziećmi zdrowymi (0,51 vs 0,22pg/mL; p<0,01). Zauważono także wyższe stężenie NGAL w grupie niedotlenionych dzieci w porownaniu z kontrolą (99,1 vs 22,3ng/mL; p<0,001). Stwierdzono związek pomiędzy stężeniem NGAL i aktywiny A (R=0,54; p<0,01) oraz stężeniem NGAL a punktacją w skali Apgar w 5 min. życia, wartością pH, stężeniem HCO3, niedoboru zasad i laktatow. Analiza krzywej ROC wykazała czułość 100% i specyficzność 78,3% dla stężenia NGAL >33,9ng/mL w predykcji niedotlenienia okołoporodowego. Natomiast dla wartości stężenia aktywiny A >0,208ng/mL czułość wynosiła 93,1% a specyficzność 26,7%. Wnioski: U niedotlenionych noworodkow stwierdzono wyższe stężenie NGAL i aktywiny A w porownaniu do kontroli. Wykazany związek pomiędzy stężeniem NGAL a klinicznymi i biochemicznymi wykładnikami niedotlenienia, a także wyższa czułość i specyficzność dla oznaczenia stężenia NGAL, sugerują że NGAL może być lepszym markerem niedotlenienia okołoporodowego niż stężenie aktywiny A.  Objectives: The aim of the study was to evaluate activin A and NGAL levels as potential early markers of perinatal hypoxia. Material and methods: We prospectively studied 58 full-term newborns: 24 with perinatal hypoxia (study group) and 34 healthy controls. Umbilical cord blood samples were obtained from all subjects immediately after delivery for the measurement of activin A and NGAL levels. Both biomarkers were correlated with biochemical indicators od hypoxia and neonatal complications. Results: Activin A levels were significantly higher in hypoxic as compared to non-hypoxic newborns (0.51 vs. 0.22pg/mL; p<0.01). NGAL levels were also higher in asphyxiated babies as compared to controls (99.1 vs. 22.3ng/mL; p<0.001). A correlation between NGAL and activin A levels was detected (R=0.54; p<0.01). NGAL concentration was also correlated with Apgar score at 5 min. and pH value, HCO3, based deficit and lactate levels. ROC curve analysis demonstrated the cutoff value of >33.9ng/ml for NGAL in prediction of perinatal asphyxia in neonates, with a sensitivity of 100% and specificity 78.3%, whereas the cutoff value for activin A was 0.208ng/ml had, with a sensitivity of 93.1% and only 26.7% specificity. Conclusions: Asphyxiated neonates demonstrate elevated NGAL and activin A levels as compared to controls. The correlation of NGAL with clinical and biochemical signs of neonatal hypoxia, as well as higher sensitivity and specificity for NGAL measurements, have led us to believe that NGAL could be a better marker of perinatal hypoxia than activin A.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

Objectives: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband’s prenatal examination. Maretial and methods: Nine family members were tested for TBX5 gene mutation. Results: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results. The diagnosis allowed to identify a genetic risk family and enabled to provide them with genetic counselling. Conclusions: Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests

Plasma homocysteine concentrations in mothers and term and preterm newborns

Abstract Aim: To assess the correlation between homocysteine concentrations and gestational age, gender, Apgar score, complications in pregnancy, delivery modalities and levels of vitamin B12 and foliate. Material and methods: Concentration of homocysteine, vitamins-B12, foliate were measured in cord blood and mother blood. There were 40 full term babies and 38 preterm babies and their mothers. Result: The homocysteine concentration in newborns correlated with homocysteine level in mothers. There was no difference in homocysteine level regardless of newborn’s gender. There was no correlation in the homocysteine concentration of mother’s blood and cord blood with the levels of vitamin B12 and foliate. In full term newborns a significant increase in homocysteine levels in comparison with premature babies was observed (7.2±1.4μmol/l vs. 6.4±1.3μmol/l; p=0.01). Additionally, negative correlation between the mothers’ age and homocysteine concentration (r=-0.23; p=0.04) and positive correlation between homocysteine concentration in cord plasma and gestation age (r=0.28; p=0.01) were found. Conclusion: Homocysteine concentration depends on gestational age, Apgar score and mother’s age. There is no correlation between homocysteine level and hypertension during pregnancy, type of delivery, levels of vitamin B12 and foliate. Determination of homocysteine level is therefore of no significant importance in newborns pathophysiology

Szlak remetylacji homocysteiny u noworodków z wrodzonymi wadami serca i wadami cewy nerwowej

INTRODUCTION: The etiology of congenital heart defects (CHD) and neural tube defects (NTD) remain unknown, however, the relation between homocysteine and folate levels and congenital anomalies were found. With this perspective in mind, the aim of the study was to investigate serum biomarkers of the homocysteine metabolism pathway in neonates with CHD, newborns with NTD and their mothers. MATERIALS AND METHODS: Twenty-one pairs of mothers and their neonates with CHD as well as 18 pairs of mothers and neonates with NTD were enrolled in the study. The control group consisted of 54 pairs of mothers and their healthy neonates. To estimate the total homocysteine, serum folic acid and vitamin B12 levels in plasma, mothers’ venous blood samples and umbilical cord blood were taken in the all groups. RESULTS: There were significantly higher tHcy levels in the newborns with CHD compared to their mothers. The total homocysteine levels in the CHD neonates were noticeably different compared to the neonates with NTD and to the controls. The vitamin B12 levels were similar in all the investigated neonates. Significantly lower umbilical folic acid levels in the NTD and CHD groups as compared to the controls were noticed. CONCLUSIONS: The observed differences in concentrations of homocysteine, folic acid and cobalamin between neonates with congenital heart and neural tube defects suggest the influence of various agents disturbing the homo-cysteine metabolic pathways in those children.WSTĘP: Etiologia wrodzonych wad serca (WWS) oraz wad cewy nerwowej (WCN) jest niewyjaśniona, wykazano jednak związek między stężeniem homocysteiny oraz kwasu foliowego a występowaniem wrodzonych anomalii. Celem pracy była ocena stężenia biochemicznych markerów szlaku metabolizmu homocysteiny u noworodków z WWS oraz WCN i ich matek. MATERIAŁ I METODY: Badaniem objęto 47 par – matka i jej noworodek urodzony z WWS (n = 29) i WCN (n = 18). Grupę kontrolną (GK) stanowiły 54 pary matek i ich zdrowe dzieci. Próbki krwi matki i krwi pępowinowej pobierano w celu oznaczenia stężenia tHcy, kwasu foliowego i witaminy B12. WYNIKI: Stężenie tHcy u noworodków z WWS było znamiennie wyższe niż u ich matek oraz u dzieci z WCN. Stężenie tHcy u noworodków z WCN było znamiennie wyższe niż w grupie kontrolnej. Stężenia witaminy B12 były podobne u wszystkich badanych noworodków w porównaniu z wartościami stwierdzonymi u ich matek. U noworodków z WCN i WWS stężenie kwasu foliowego w krwi pępowinowej było znamiennie niższe niż u dzieci z grupy kontrolnej. WNIOSKI: Zaobserwowane różnice w stężeniu homocysteiny i kwasu foliowego między noworodkami z wrodzonymi wadami serca i wadami cewy nerwowej sugerują obecność dodatkowych czynników zaburzających szlaki metaboliczne homocysteiny u tych dzieci

Zespół Smitha, Lemlego i Opitza--opis przypadku, wczesna diagnostyka.

Smith-Lemli-Opitz syndrome (SLOS) is one of the most frequent metabolic disorders in Poland and manifests itself with multiple congenital anomalies, psychomotor delay and intellectual disability. It is caused by mutations in DHCR7 gene, which codes one of the cholesterol biosynthesis enzymes. Clinical diagnosis of the syndrome is difficult due to lack of pathognomonic features and their variable expression. Despite high carrier frequency in Poland, SLO syndrome is rarely suspected and recognized. Its early diagnosis is essential, mainly because of high genetic risk (25%) as well as possibilities of treatment. Authors present a female-newborn, diagnosed with SLOS during the neonatal period. The diagnosis was based on biochemical and molecular tests. Mutations in DHCR7 gene have been found in both, the child and the parents

Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland

<div><p><i>Background</i>: Geographic variation in the prevalence of isolated cleft lip with or without cleft palate may be due to exogenous environmental factors or genetic variation. In this study, we aim to evaluate the prevalence of isolated cleft lip with or without cleft palate in Polish urban and rural environments in order to identify geographic areas with high prevalence (defect clusters). <i>Methods</i>: We use all cases of congenital malformations reported to the Polish Registry of Congenital Malformations in the years 1998–2008 from the total population of 2,362,502 births. <i>Results</i>: We detect a strong signal of increased prevalence of isolated cleft lip with or without cleft palate in a single region of Poland, the Dolnośląskie voivodeship. Furthermore, we demonstrate a statistically significant prevalence differences between the urban and rural areas within this region. Through our comprehensive spatiotemporal analysis, we precisely define the cluster of the highest risk that comprises the eastern part of this voivodeship.</p></div