A Successful Whole Body Therapeutic Hypothermia for Hypoxic Ischemic Encephalopathy During an ECMO Run in a Newborn

Data regarding the safety of using therapeutic hypothermia (TH) with extracorporeal membrane oxygenation (ECMO) in neonates with both hypoxic ischemic encephalopathy (HIE), and respiratory failure are lacking. TH is not associated with an increased incidence of hemostatic complications, but hypothermia may impair coagulation. Herein, we report a case of a newborn who had meconium aspiration syndrome and HIE and underwent both TH and ECMO. He did not have any bleeding or circuit complications, and mortality as short-term outcome along with well-neurodevelopmental outcome

Placenta, Secret Witness of Infant Morbidities: The Relationship Between Placental Histology and Outcome of the Premature Infant

Objective: The microscopic and macroscopic features of the placenta can contribute to the clinical understanding of premature delivery. The aim of our study was to figure out the relationship between the histopathological findings of the placentas of premature deliveries and its effects on neonatal morbidity and mortality. Material and Method: The placentas of 284 singleton preterm infants with <35 weeks of gestation were examined. three groups created as the normal, chorioamnionitis and vasculopathy according to histopathological findings in placentas subjects. Results: The mean gestational age of the infants in the study group was 30.5 ± 3.2 weeks, and the mean birth weight was 1588 ± 581 g. The pathology was normal in ninety-six (33.8%), vasculopathy in 153 (53.9%) and chorioamnionitis in 35 (12.3%). The gestation age of the infants was lower in the chorioamnionitis group. Moreover, retinopathy of prematurity, early onset neonatal sepsis, and duration of respiratory support were found to be higher in the chorioamnionitis group. In the vasculopathy group, preeclampsia and small for gestational age were found to be significantly higher. Conclusion: Histopathological findings of the placentas from preterm deliveries provided important data in determining the etiology of preterm delivery and outcomes of infants. Infants delivered by mothers with chorioamnionitis were particularly found to be more preterm, and these preterm infants would have a longer hospital stay, higher respiratory support requirement, and more serious morbidities

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

Introduction:Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a female new-born of consanguineous (first degree cousins) parents from Ankara, Turkey, who presented with a low albumin concentration (< 8 g/L) and severe clinical symptoms. Materials and methods: The albumin gene of the index case was screened by single-strand conformation polymorphism, heteroduplex analysis, and direct DNA sequencing. The effect of the splicing mutation was evaluated by examining the cDNA obtained by reverse transcriptase - polymerase chain reaction (RT-PCR) from the albumin mRNA extracted from proband’s leukocytes. Results: DNA sequencing revealed that the proband is homozygous, and both parents are heterozygous, for a novel G>A transition at position c.1652+1, the first base of intron 12, which inactivates the strongly conserved GT dinucleotide at the 5’ splice site consensus sequence of this intron. The splicing defect results in the complete skipping of the preceding exon (exon 12) and in a frame-shift within exon 13 with a premature stop codon after the translation of three mutant amino acid residues. Conclusions: Our results confirm the clinical diagnosis of congenital analbuminemia in the proband and the inheritance of the trait and contribute to shed light on the molecular genetics of analbuminemia

Efficacy and Safety of Nebulized Recombinant Human DNase as Rescue Treatment for Persistent Atelectasis in Newborns: Case-series

Aim: To evaluate the efficacy and safety of using recombinant human DNase (rhDNase) in diminishing persistent atelectasis unresponsive to conventional treatment and mucus plugging in newborns with insufficient ability to clear thick and purulent airway secretions. Methods: Twelve newborns (10 preterms), who did not respond to conventional methods, received rhDNase nebulized therapy at a dose of 1.25 mg over a 15-minute period, twice a day (2 hours between the doses) for up to 3 days. The application of the drug was continued for up to 3 days or until the improvement of atelectasis. After a-three-day therapy, if atelectasis did not improve, a single dose (1.25 mg) of the same drug in liquid form was administered endotracheally. Clinical (respiration rate, requirement for oxygen concentration) and radiological response (chest x-ray scoring), duration of the treatment, recurrence of atelectasis and requirement for additional therapy were evaluated. Results: Ten out of 12 patients showed rapid clinical and radiological improvement after nebulized treatment. Two patients who did not respond to the three-day regimen received a single dose of the drug endotracheally and both recovered completely. Six patients did not require completion of three day regimen for radiological recovery. Chest x-ray scores and respiratory parameters showed significant improvement after the treatment. The respective median (range) values before and after treatment were 4 (1-5) and 0 (0-4) points for chest x-ray scores, 66 (60-78) and 49 (44-64) breaths/min for respiratory rates, and 45% (35-64) and 30% (21-40) for oxygen requirement. Comparison of pCO2 before (median, 56 mm Hg; range, 46-64) and after treatment (median, 41 mm Hg; range 38-58) in 7 patients showed significant improvement. Conclusion: In a large series of newborns to receive rhDNase and we demonstrated the usefulness of rhDNase as a mucolytic agent in treating newborns with persistent atelectasis who do not respond to other treatments

A newborn with congenital glucose-galactose malabsorption and recurrent episodes of sepsis

Konjenital glukoz ve galaktoz malabsorbsiyonu absorbe edilemeyen glukoz ve galaktoz nedeniyle ortaya çıkan kronik osmotik bir ishal durumudur. Burada, yenidoğan döneminde ishal nedeniyle başvuran ve konjenital glukoz ve galaktoz malabsorbsiyonu tanısı alan, takibinde tekrarlayan Candida albicans, Klebsiella pneumoniae ve Enterococcus faecalis etkenleri ile sepsis atakları geçiren fakat altta yatan hücresel ve humoral immün yetmezlik tespit edilmeyen bir olgu sunulmaktadır. Nadir görülen konjenital glukoz ve galaktoz malabsorbsiyonunda, erken tanı ve uygun tedavinin yaşamı tehdit eden komplikasyonların önüne geçebileceği, büyüme ve gelişmenin normal olabileceği bilinmektedir. Konjenital glukoz ve galaktoz malabsorbsiyonu tanısı alıp tekrarlayan fırsatçı mikroorganizmalarla enfeksiyon geçiren literatürde bizim olgumuz dışında yalnızca bir olgu daha tanımlanmaktadır.Congenital glucose-galactose malabsorption is a chronic osmotic diarrhea due to defective absorption of glucose and galactose in the intestine. Here, we present a newborn that was admitted to our hospital for neonatal diarrhea and was diagnosed as congenital glucosegalactose malabsorption. He had recurrent sepsis with Candida albicans, Klebsiella pneumoniae and Enterococcus faecalis during follow-up without having any underlying cellular or humoral immune deficiency.Early diagnosis and appropriate treatment of this rare disease can prevent life-threatening complications, and normal growth and development can be achieved. To our knowledge, the present case will be the second glucose-galactose malabsorption case with recurrent infectious due to opportunistic microorganisms after only one similar case in the literature