Prolonged Jaundice in Newborn

Prolonged jaundice is defined as a serum bilirubin level higher than 85 μmol/L (5 mg/dl), which persists at postnatal 14 days in term infants and 21 days following the birth in preterm infants. It affects 2–15% of all newborns and 40% of breastfed infants. Although underlying cause can not be found in the majority of prolonged jaundice cases, this may also be the first sign of a serious causative pathology. Tests performed to determine the underlying cause and failure to determine the etiology cause anxiety for both families and physicians. The most important point is to determine whether prolonged jaundice is of a benign cause or is due to a substantial disease. For this reason, health care providers should not take unnecessary tests in normal infants, but should also recognize infants with a causative pathology. Neonatal jaundice still maintains its importance in neonatal clinical practice, since early diagnosis and treatment is feasible

Neurodevelopmental Outcome of Infants with Transient Hypothyroxinemia of Prematurity in a Newborn Intensive Care Unit

INTRODUCTION: The aim of this study was to evaluate neurological development of infants with transient premature hypothyroxinemia (THOP). METHODS: This prospective study included newborns who were born between 28-36 weeks of gestation (GW) and were admitted to the neonatal intensive care unit. Newborns exposed to maternal thyroid disease, or with severe intracranial problems, and congenital anomalies were excluded. Infants with THOP were the study group and those without THOP formed the control group. The study group was subdivided into those receiving levothyroxine replacement (5 μg/kg/day) and those who were untreated. Neonatal demographics, and morbidities, including respiratory distress syndrome, bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP) were evaluated. The Ages and Stages Questionnaire (ASQ) and ASQ: Social-Emotional (ASQ: SE) developmental screening tests were administered to the entire study population at the corrected age of two years. RESULTS: Seventy infants were included in this study, 40 of whom had THOP. The mean GW was 34.4+-3.8 weeks in the study group and 37.2+-2.3 weeks in controls (p=0.69). Mean overall birth weight was 1640+-428 g. Levothyroxine replacement was started in 12/40 infants (30%). The groups were similar in terms of demographic characteristics. Rates of BPD and ROP were higher in the treated group (p=0.01). ASQ and ASQ: SE results did not differ between groups (p=0.75), nor did these scores differ between infants with THOP who did or did not receive levothyroxine (p=0.14). DISCUSSION AND CONCLUSION: Although levothyroxine replacement therapy was associated with increased rates of BPD and ROP, this treatment did not appear to improve long-term neurological outcomes in this small group of infants with THOP. Prospective controlled studies with much larger sample sizes are needed to clarify the role of levothyroxine replacement in THOP

The possible effect of pentoxifylline on development and severity of retinopathy of prematurity

Background and aim Retinopathy of prematurity (ROP) is the major ocular problem of preterm infants that occurs with abnormal proliferation of immature retinal vessels. Although pentoxifylline (PTX) was reported to inhibit vasculogenesis and neovascularization in experimental studies, there is no clinical data about the effects of PTX treatment on the development and severity of ROP. This clinical study aimed to investigate the possible effects of PTX on the development of ROP. Materials and methods A single-centre retrospective study was conducted including preterm infants who were hospitalised in the neonatal intensive care unit between 2015-2017 years. Infants were divided into two groups in terms of PTX administration for adjuvant therapy, as PTX and non-PTX groups. Results A total of 211 infants were included in the study [gestational age 29 (27-31) weeks, birth weight 1140 (960-1340) g]. From these, 97 infants (46%) were given PTX treatment. The two groups were similar in terms of demographic data and baseline clinical characteristics. Any stage of ROP was detected in 47.4% of infants in the PTX group, which was significantly higher than those in the non-PTX group (27.2%) (p = 0.002). The incidence of advanced-stage ROP in the PTX group (10.3%) was also higher than in the non-PTX group (2.6%) (p = 0.021). Repeated usage of PTX was not found to be related to the development of ROP (p = 0.059). The time of PTX administration was similar between the ROP and no-ROP groups (median; one vs one week, p = 0.825). Surfactant therapy, duration of hospital stay, and PTX treatment were found as significant risk factors for ROP in the logistic regression analysis. Conclusions In contrast to the experimental studies and also promising results of PTX treatment in some neonatal morbidities, it may be associated with increased incidence and stage of ROP

The utility of amniotic fluid pH and electrolytes for prediction of neonatal respiratory disorders

Background: Amniotic fluid (AF) is a complex structure with a changing content by gestation. Lower genomic expression of Na channels in airways was shown to be associated with respiratory distress syndrome (RDS). The aim of this study was to determine the possible role of amniotic fluid pH and electrolytes for prediction of neonatal respiratory morbidities. Methods: This was a prospective controlled cohort study. During C-section, 1 ml of AF was aspirated before incision of membranes. AF pH and electrolytes were analyzed by blood gas analyzer. Maternal and neonatal demographic features and clinical outcomes, respiratory morbidities were all recorded. Results: AF Na and K values were significantly higher in all infants with respiratory morbidities compared with those who did not develop respiratory findings. AF Na value was significantly higher in preterm neonates with RDS as well as in term neonates with transient tachypnea of the newborn (TTN). AF pH did not show any significant difference for prediction of respiratory morbidities in term and preterm infants. Conclusion: This is the first study that reported the value of AF Na and K levels for prediction of respiratory morbidities in term and preterm infants. However, further studies including larger number of infants are required to confirm the role of AF analysis to predict neonatal respiratory morbidities. Randomized controlled trial (RCT) number: NCT02813954

SIMPLE: A Novel Scoring System for Predicting Hemodynamically Significant Patent Ductus Arteriosus Without Echocardiographic Evaluation in Extremely Low Birth Weight Infants

Aim: To develop a novel clinical scoring system for predicting hemodynamically significant patent ductus arteriosus (hsPDA) in extremely low birth weight (ELBW) infants

Bronchopulmonary dysplasia and wnt pathway-associated single nucleotide polymorphisms.

AIM: Genetic variants contribute to the pathogenesis of bronchopulmonary dysplasia (BPD). The aim of this study is to evaluate the association of 45 SNPs with BPD susceptibility in a Turkish premature infant cohort. METHODS: Infants with gestational age <32 weeks were included. Patients were divided into BPD or no-BPD groups according to oxygen need at 28 days of life, and stratified according to the severity of BPD. We genotyped 45 SNPs, previously identified as BPD risk factors, in 192 infants. RESULTS: A total of eight SNPs were associated with BPD risk at allele level, two of which (rs4883955 on KLF12 and rs9953270 on CHST9) were also associated at the genotype level. Functional relationship maps suggested an interaction between five of these genes, converging on WNT5A, a member of the WNT pathway known to be implicated in BPD pathogenesis. Dysfunctional CHST9 and KLF12 variants may contribute to BPD pathogenesis through an interaction with WNT5A. CONCLUSIONS: We suggest investigating the role of SNPs on different genes which are in relation with the Wnt pathway in BPD pathogenesis. We identified eight SNPs as risk factors for BPD in this study. In-silico functional maps show an interaction of the genes harboring these SNPs with the WNT pathway, supporting its role in BPD pathogenesis. TRIAL REGISTRATION: NCT03467828. IMPACT: It is known that genetic factors may contribute to the development of BPD in preterm infants. Further studies are required to identify specific genes that play a role in the BPD pathway to evaluate them as a target for therapeutic interventions. Our study shows an association of BPD predisposition with certain polymorphisms on MBL2, NFKBIA, CEP170, MAGI2, and VEGFA genes at allele level and polymorphisms on CHST9 and KLF12 genes at both allele and genotype level. In-silico functional mapping shows a functional relationship of these five genes with WNT5A, suggesting that Wnt pathway disruption may play a role in BPD pathogenesis

Needles in a haystack: Extremely rare invasive fungal infections reported in FungiScopeⓇ—Global Registry for Emerging Fungal Infections

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease