Use of Fibrin Glue in the Treatment of Persistent Pneumothorax in Premature Infants at the Limit of Viability: Ethical Issues and Two and A Half Years Follow-Up.

INTRODUCTION: Due to the extreme immaturity of many internal organs, including lungs, infants at the limit of viability are more predisposed to a pneumothorax (PTX). In some cases, PTX becomes persistent. Previously, only a few attempts of PTX treatment with fibrin glue were reported. However, its impact on further lung development is unknown. CASE REPORT: We present a case of an extremely preterm infant with persistent PTX who was successfully treated with fibrin glue. In addition, we present a two-and-a-half-year corrected age follow-up focusing on respiratory problems, motor development and sensory organs. Furthermore, we touch upon the related ethical issues. CONCLUSIONS: Fibrin glue should be used to treat persistent PTX even in an extremely preterm infant. No adverse effects were observed. At the two-and-a-half-year corrected age follow-up, despite severe bronchopulmonary dysplasia development, no serious pulmonary problems were observed. However, the child's development is uncertain. This situation raises important ethical issues concerning saving the lives of infants at the limit of viability.

Perinatal Outcomes of Neonates with Complex and Simple Gastroschisis after Planned Preterm Delivery-A Single-Centre Retrospective Cohort Study.

This research analysed early neonatal outcomes of complex and simple gastroschisis following planned elective preterm delivery in relation to prenatal ultrasound assessment of bowel conditions. A retrospective study of 61 neonates with prenatal gastroschisis diagnosis, birth, and management at a single tertiary centre from 2011 to 2021 showed a 96.72% survival rate with no intrauterine fatalities. Most cases (78.7%) were simple gastroschisis. Neonates with complex gastroschisis had longer hospital stays and time to full enteral feeding compared to those with simple gastroschisis-75.4 versus 35.1 days and 58.1 versus 24.1 days, respectively. A high concordance of 86.90% between the surgeon's and perinatologist's bowel condition assessments was achieved. The caesarean delivery protocol demonstrated safety, high survival rate, primary closure, and favourable outcomes compared to other reports. Prenatal ultrasound effectively evaluated bowel conditions and identified complex gastroschisis cases.

Further Evidence of the Association of the Diacylglycerol Kinase Kappa (DGKK) Gene With Hypospadias.

PURPOSE: Hypospadias is a common developmental anomaly of the male external genitalia. In previous studies conducted on West European, Californian, and Han Chinese populations the relationship between polymorphic variants of the diacylglycerol kinase kappa (DGKK) gene and hypospadias have been reported. The aim was to study the possible associations between polymorphic variants of the DGKK gene and hypospadias using an independent sample of the Polish population. MATERIALS AND METHODS: Ten single nucleotide polymorphisms in DGKK, which were reported to have an impact on the risk of hypospadias in other populations, were genotyped using high-resolution melting curve analysis in a group of 166 boys with isolated anterior (66%) and middle (34%) forms of hypospadias and 285 properly matched controls without congenital anomalies. RESULTS: Two DGKK variants rs11091748 and rs12171755 were associated with increased risk of hypospadias in the Polish population. These results were statistically significant, even after applying the Bonferroni correction for multiple comparisons (P < .005). All the tested nucleotide variants were involved in haplotype combinations associated with hypospadias. The global p-values for haplotypes comprising of rs4143304-rs11091748, rs11091748-rs17328236, rs1934179-rs4554617, rs1934183-rs1934179-rs4554617 and rs12171755-rs1934183-rs1934179-rs4554617 were statistically significant, even after the permutation test correction. CONCLUSION: Our study provides strong evidence of an association between DGKK nucleotide variants, haplotypes and hypospadias susceptibility.

EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study.

INTRODUCTION: Hypospadias has a complex etiology with both genetic and environmental factors contributing to the condition. Urogenital abnormalities including hypospadias, are found in 22% of cases with Ellis van Creveld syndrome (EvC). Mutations in the EVC gene can cause major and minor anomalies, which form phenotypes that partially overlap with those present in EvC. The aim of this study was to evaluate the association between nucleotide variants of the EVC gene and the risk of hypospadias. MATERIAL AND METHODS: Four single nucleotide polymorphisms (SNPs) of the EVC gene (rs3774856, rs2302075, rs1383180, rs7680768) were taken under investigation in 96 patients with isolated hypospadias and 284 matched controls. Genotyping of all polymorphisms was carried out by PCR and followed by appropriate restriction enzyme digestion (PCR-RFLP). RESULTS: Individuals homozygous for the SNP rs2302075 (p.Thr449Lys) showed an elevated risk for hypospadias. Haplotypes containing the rs2302075 variant also revealed modest associations with hypospadias, which did not survive multiple testing corrections. None of the other tested EVC polymorphisms displayed significant association with the risk of hypospadias, either in dominant or recessive inheritance models. CONCLUSIONS: The results of this study suggest that polymorphic variants of the EVC gene do not substantially contribute to the risk of hypospadias based on our study population. However, further studies should help to clarify the relationship between polymorphisms of EVC and hypospadias.

Propionylcarnitine and methionine concentrations in newborns with hypospadias.

INTRODUCTION: Of interest is if factors like maternal diet can influence the risk of hypospadias-affected pregnancy. Increased propionylcarnitine (C3) is regarded as a biomarker of vitamin B12 deficiency. The retrospective study was undertaken to determine whether increased propionylcarnitine and low methionine in newborns are associated with hypospadias. MATERIAL AND METHODS: 41 newborns with hypospadias and 90 control newborns without congenital anomalies were investigated. Whole blood propionylcarnitine and methionine concentrations were measured using tandem mass spectrometry. RESULTS: The mean concentration of propionylcarnitine was higher in newborns with hypospadias compared with newborns without congenital anomalies (p = 0.026). The mean methionine level in cases was insignificantly lower than in controls. CONCLUSION: There appears to be an association between decreased vitamin B12, as indexed by an increase of propionylcarnitine, and hypospadias in the investigated group of patients.

[Surgical treatment of neonates with very low (VLBW) or extremely low (ELBW) birth weight].

UNLABELLED: Progress in perinatology and neonatal intensive care led to surgical treatment of premature infants born with low (<1500 g) and extremely low (<1000 g) birth weight. AIM: Evaluation of surgical treatment in the group of neonates with very low birth weight (<1500 g) and extremely low birth weight (<1000 g). MATERIAL AND METHODS: In the years 2000-2009 in the Department of Paediatric Surgery in the Institute of Mother and Child, 617 neonates underwent surgical treatment, 101 of them (16%) were born with very low or extremely low birth weight. In the analyzed group the birth weight ranged from 450 g to 1500 g (mean 952 g), gestational age ranged from 23 weeks to 32 weeks (mean 27 weeks). Fifty four patients (53%) were operated with the weight <1000 g. Indications for surgery were of two categories: pathologies related to prematurity and congenital defects. The extend of surgical intervention is presented. Additional pathologies influencing prognosis such as respiratory distress syndrome, haemodynamic ductus arteriosus, intraventricular haemorrhagia, multiple congenital defects and genetic disorders were also taken into consideration. Mortality in the entire group of patients was evaluated in relation to the birth weight, gestational age, reasons for surgical treatment and additional risk factors. RESULTS: Pathologies related to prematurity were indications for surgical treatment in 70 patients: perforation of the bowel in the course of necrotizing enterocolitis - NEC (28 patients), spontaneous intestinal perforation - SIP (32), gastric perforation - GP (4), meconium obstruction - MO (3) posthemorrhagic hydrocephalus - PH (3). In the remaining 31 neonates the following congenital defects were operated: inguinal hernia (10 patients), oesophageal atresia (8), anal atresia (2), torsion of the bowel (2), bowel atresia (3), hernia of the umbilical cord (3), ruptured omphalocele (1), myelomeningocele (2). In the entire group of 101 premature infants, 99 patients (98%) had respiratory distress syndrome, 56 (56%) required the closure of ductus arteriosus , in 55 patients (55%) intraventricular haemorrhage from II to IV degree was confirmed. In total thirty patients died. Twenty one of them were ELBW neonates. None of the patients died during the operation or within the first postoperative day. Mortality rate in the group with the weight <1000 g was 38%, in the group with the weight 1000 g-1500 g it was 19%. Highest mortality was observed in the patients with oesophageal atresia (62%) In this group the biggest number of additional anomalies or other genetic disorders was found. Twenty infants died (31%) in the group of 64 neonates with perforations. Mortality rate in the groups with the weight <1000 g and 1000 g-1500 g it was 34% and 26% respectively. Our results confirmed the significant difference between mortality in NEC - 65% and in SIP - 19.5% . The remaining 5 deaths were related both to extreme multiorgan prematurity and severe congenital defects. CONCLUSION: The most frequent indications for surgery in premature neonates (VLBW and ELBW) are acquired pathologies which are related to premature multiorgan insufficiency: perforations in the course of ischaemic or inflamatory changes in the bowel (NEC, SIP), intestinal obstruction related to functional insufficiency of alimentary tract (MO) and posthaemorrhagic hydrocephalus. Congenital anomalies constitute 30% of indications for surgical treatment in this group of patients. Neonates born with low or extremely low birth weight are in the group of patients with the highest intraoperative risk. There is herefore a need to create well equipped, interdisciplinary centres employing paediatric surgeons, anaesthesiologists and neonatologists experienced in treatment of extremely premature neonates.