The Utilization of Acetaminophen for Managing PGE1-Induced Fever in Neonates with Critical Congenital Heart Disease.

Introduction: We aimed to retrospectively evaluate the use of acetaminophen, which may be a risk factor for the ductal canal, in the treatment of fever due to prostaglandin E1 (PGE1) infusion in newborns with critical congenital heart disease (CCHD).

Methods: The study included newborns who were followed-up in our neonatal intensive care unit with the diagnosis of critical congenital heart disease, developed fever due to PGE1 infusion and had acetaminophen administered for antipyretic treatment. The patent ductus arteriosus diameters of the patients were evaluated by echocardiographic imaging before intravenous acetaminophen treatment and at the end of the day of acetaminophen treatment.

Lung ultrasound in the evaluation of pulmonary edema in newborns with critical congenital heart disease.

Background: Newborns with critical congenital heart disease (CCHD) with increased pulmonary blood flow (PBF) are at high risk for congestive heart failure. In this study, we aimed to evaluate the presence and degree of pulmonary edema in newborns with CCHD using lung ultrasound (LUS) during the perioperative period.

Methods: Prospective clinical trial, 44 newborn patients with CCHD were evaluated in this prospective clinical trial.

Ivabradine for congenital ectopic tachycardia in newborn.

Introduction: Congenital junctional ectopic tachycardia is a rare arrhythmia that occurs in patients without previous cardiac surgery. In this report, we wanted to present a 6-hour-old newborn with congenital junctional ectopic tachycardia resistant to conventional anti-arrhythmic medications, who was successfully treated with ivabradine and amiadarone combination.

Case: A six-hour-old newborn girl was hospitalised in neonatal ICU because transient tachypnoea of the newborn.

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency.

Combination treatment of bortezomib and epirubicin increases the expression of TNFRSF10 A/B, and induces TRAIL-mediated cell death in colorectal cancer cells.

Colorectal cancer is one of the most common cancers worldwide, affecting the colon and rectum. A major problem in the treatment of colorectal cancer is acquired chemoresistance, including resistance against death receptor-induced apoptosis. Therefore, investigating new biomarkers for the treatment of the disease and sensitization strategies against TRAIL might be of high clinical importance.

A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay.

Background: The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and cerebellum involvement.

Case Reports: A seven-year-old girl with pontocerebellar hypoplasia, resistant myoclonic epilepsy with axial hypotonia, microcephaly, atypical facial appearance, nystagmus, ophthalmoplegia, hyperactive tendon reflexes, spasticity, clonus, extensor plantar response, contractures in wrists and ankles and growth retardation, whole-exome sequencing was performed and a homozygous "NM_001134225.2:c.

Ultrasonographic evaluation of endotracheal tube position in newborns with CHD.

Unlabelled: Many studies have been conducted to determine the most reliable technique for evaluating the position of the endotracheal tube in patients receiving mechanical ventilation support. In this study, we aimed to determine the endotracheal tube position by ultrasonography in intubated patients with a diagnosis of critical CHD followed in the neonatal ICU.

Methods: In this prospective observational clinical study, we performed point-of-care ultrasound for endotracheal tube localisation in 65 intubated newborns with critical CHD.

Diagnostic Value of the Systemic Immune-Inflammation Index in Newborns with Urinary Tract Infection.

Objective: Aim of this study is to investigate the diagnostic role of the systemic immune-inflammation index (SII; neutrophil × platelet [PLT]/lymphocyte) in the prediction of renal involvement in newborns with urinary tract infection (UTI).

Study Design: We conducted a retrospective cohort study among 117 newborns with a gestational age greater than 35 weeks and hospitalized in the NICU. Laboratory values obtained from blood samples taken before the initiation of antibiotics were evaluated for renal function tests, complete blood count, and acute phase reactants.

Evaluation of Newborns Diagnosed with COVID-19: A Single-Center Experience.

Objective: The causative agent of the severe acute respiratory syndrome is a new type of coronavirus infection called coronavirus disease-2019 (COVID-19) which has spread around the world. COVID-19 is thought to rarely affect infants, so pandemic planning focuses on adults. This study aimed to share our 1-year experience with COVID-19-positive newborns in a tertiary neonatal intensive care unit (NICU).

Massive upper gastrointestinal bleeding due to a gastric ulcer in a newborn.

Usually, swallowing of maternal blood is the cause of bloody vomiting in healthy term newborns. Other reported causes include gastritis, esophagitis, gastric ulcer, and duodenal ulcer. We report a newborn girl born by cesarean at 37 weeks who had hematemesis on postnatal day 1 and hematochezia on day 2.

Investigation of sub-chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis.

Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.

Minimally invasive permanent pacemaker implantation immediately after birth: from delivery room to heart surgery.

Introduction: Congenital atrioventricular block is diagnosed in uterine life, at birth, or early in life. Atrioventricular blocks can be life threatening immediately at birth so urgent pacemaker implantation techniques are requested. Reasons can be cardiac or non-cardiac, but regardless of the reason, operations are challenging.

Thrombosis of isolated ductus arteriosus aneurysm in a newborn.

Congenital aneurysm of the ductus arteriosus is reported in 0.8% in neonatal autopsies; however, true incidence is unknown because of high rate of asymptomatic cases and spontaneous regression. Possible complications in symptomatic cases are thromboembolism, spontaneous rupture, erosion, infection, compression of airways, and death.

Maternal Germline Mosaicism of a TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings.

Complex cortical dysplasia with other brain malformations-7 (a.k.a.

Successful Mesenchymal Stem Cell Application in Supraventricular Tachycardia-Related Necrotizing Enterocolitis: A Case Report.

Necrotizing enterocolitis (NEC) is one of the most important life- threatening diseases in neonates. Recurrent episodes of supraventricular tachycardia (SVT) can lead to gut ischemia, with subsequent reperfusion injury resulting in NEC. Mesenchymal stem cells (MSCs) are multi-potential cells which can differentiate into multiple cell types.

Predictive Value of Vasoactive-inotropic Score for Mortality in Newborns Undergoing Cardiac Surgery.

Objective: Vasoactive-inotropic Score (VIS) was developed to quantify the amount of inotropic support provided in the postoperative period. We investigated the predictive value of (VIS) for mortality in neonates with congenital heart disease (CHD).

Study Design: Prospective cohort.

Comparison of three natural surfactants according to lung ultrasonography scores in newborns with respiratory distress syndrome.

Introduction: Lung ultrasonography (LUS) is a noninvasive bed-side test and increasingly used by clinicians in the management and follow-up of respiratory distress syndrome (RDS) in premature infants.

Objective: To compare the results of three natural surfactants according to LUS scores in premature infants with RDS.

Methods: This was a prospective study on 62 preterm infants (25-34 weeks) with RDS and receiving surfactant according to 2016 European guidelines.

The role of thiol-disulfide homeostasis in neonatal sepsis.

Background And Aim: The thiol-disulfide homeostasis is essential for the body to maintain effective antioxidant defense mechanisms. We aimed to show the relationship between sepsis and thiol-disulfide homeostasis in newborns.

Materials And Methods: In this prospective study, 66 newborns with sepsis (group 1) and 51 healthy controls (group 2) were included.

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.

Background: Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes that are responsible for the phenotypes in the new copy number variations.

Mitochondrial DNA copy number alterations in familial mediterranean fever patients.

Objectives And Background: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease.

Methods: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined.

IL-17A, MCP-1, CCR-2, and ABCA1 polymorphisms in children with non-alcoholic fatty liver disease.

Objective: The prevalence of non-alcoholic fatty liver disease in children has risen significantly, owing to the worldwide childhood obesity epidemic in the last two decades. Non-alcoholic fatty liver disease is closely linked to sedentary lifestyle, increased body mass index, and visceral adiposity. In addition, individual genetic variations also have a role in the development and progression of non-alcoholic fatty liver disease.

The neutrophil-lymphocyte ratio in children with atopic dermatitis: a case-control study.

Background: Neutrophil-lymphocyte ratio(NLR) is a novel marker for the evaluation of inflammation and has not been evaluated previously in patients with AD.

Objective: To investigate the relationship between NLR and the clinical findings of AD.

Methods: Sixty-six children with AD were included in the study.

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive neutral lipid storage disease. It is very rare and characterized by ichtiosis, intracellular fat droplets in leucocytes (Jordan anomaly) and involvement of multiple tissues (skeletal muscle, central nervous system, bone marrow, eye and ear) mainly the liver. Our patients were diagnosed as CDS because they had ichtiosis, Jordon anomaly of leucocytes in peripheral blood smear, liver involvement and presence of homozygous 88 insertion C frame shift mutation on exon 4 of ABHD5/CGI-58 gene in genetic analysis.