Investigation of endothelial dysfunction and arterial stiffness in multisystem inflammatory syndrome in children.

Severe acute respiratory syndrome coronavirus 2 infection can result in multisystem inflammatory syndrome in children (MIS-C). MIS-C can lead to myocardial dysfunction, heart failure, and multiorgan failure; the primary finding is hyperinflammation. Endothelial dysfunction has not been evaluated in patients with MIS-C. We investigated endothelial dysfunction and arterial stiffness parameters in patients with MIS-C. The study included 38 pediatric patients (20 males and 18 females aged 4-17 years, mean age 8.89 years) with MIS-C. Thirty-eight age- and sex-matched healthy individuals were enrolled as the control group. Systolic and diastolic ventricular measurements and systolic and diastolic measurements of ascending aorta diameter were performed by M-mode echocardiography. Endothelial dysfunction was evaluated using flow-mediated dilation by measuring the brachial artery diameter with a high-resolution probe. The MIS-C group had lower flow-mediated dilation than did the controls. The MIS-C group had decreased aortic strain and aortic distensibility values and correlations between decreased flow-mediated dilation and reduced aortic strain, aortic distensibility, and reduced ejection fraction.Conclusion: The results show that patients with MIS-C had endothelial dysfunction and arterial stiffness. Furthermore, the degree of endothelial dysfunction correlated with reduced ejection fractions.What is Known:•Endothelial dysfunction and arterial stiffness are unknown in patients with MIS-C.•The effect of endothelial dysfunction and arterial stiffness on decreased cardiac function is unknown.What is New:•MIS-C patients have endothelial dysfunction and arterial stiffness.•There is a link between left ventricular dysfunction and reduced endothelial dysfunction in patients with MIS-C.

The Serum Levels of Asymmetric Dimethylarginine, Vascular Endothelial Growth Factor, and Insulin-Like Growth Factor-1 in Preterms with Retinopathy of Prematurity.

Objective:To determine the serum levels of asymmetric dimethylarginine (ADMA), vascular endothelial growth factor (VEGF), and insulin-like growth factor-1 (IGF-1) in preterms with retinopathy of prematurity (ROP). Materials and Methods: We included 37 preterm infants. The first blood samples were obtained within the first 5 days of life and repeated at the time of the first ophthalmologic examination for ROP. The levels of ADMA, IGF-1, and VEGF were measured in all samples. Results: ROP was detected in 12 of the subjects (32.4%). We categorized the subjects as non-ROP (Group 1; n = 25), untreated ROP (Group 2; n = 7), and treated ROP (Group 3; n = 5) according to the eye findings. There were no significant differences among the groups for serum levels of ADMA, VEGF, and IGF-1 at the first sampling. Conclusion: We did not find any differences in terms of serum ADMA, IGF-1, and VEGF levels in preterm infants with or without ROP.

Severe neonatal hyperbilirubinemia in the southeast region of Turkey

Background/aim: Severe neonatal hyperbilirubinemia is an important cause of morbidity and mortality in developing countries. The aim was to assess etiologic reasons for development of severe hyperbilirubinemia and define risk factors for exchange transfusion and acute bilirubin encephalopathy (ABE) in Sanliurfa located in the southeast region of Turkey. Materials and methods: An observational cohort study included 115 infants with ≥35 weeks of gestation admitted with diagnosis of severe hyperbilirubinemia in a period of 18 months. Potential risk factors associated with exchange transfusion and development of ABE were analyzed. Results: Among 115 infants, 67 (58.3%) received exchange transfusion and 45 (39.1%) developed ABE. Rh isoimmunization (OR: 24.6, 95% CI = 2.2­271, P = 0.009), glucose-6-phosphate dehydrogenase deficiency (G6PD) (OR: 21.1, 95% CI = 1.8­238.4, P = 0.01), early discharge (OR: 14.4, 95% CI = 4.2­48.9, P ≤ 0.001), and male sex (OR: 4.3, 95% CI = 1.3­14.1, P = 0.02) were independently associated with an increased risk for exchange transfusion. Being a refugee (OR: 6.8, 95% CI = 1.8­25.8, P = 0.005) and G6PD deficiency (OR: 9.9, 95% CI = 1.3­71.9, P = 0.02) were associated with development of ABE. Conclusion: Early discharge, Rh isoimmunization, and G6PD deficiency are significant risk factors for severe hyperbilirubinemia and exchange transfusion. Prevention of early hospital discharges, family education to increase awareness for hazardous effects of hyperbilirubinemia, and early follow-up visits after discharge would reduce the disease burden.

The Effect of Hopelessness on Depressive Symptoms in Mothers of Infants Hospitalized at Neonatal Intensive Care Unit: The Mediating Role of Anxiety.

Objective: Mothers of infants admitted to the neonatal intensive care unit (NICU) are at high risk for depressive symptoms. This study investigated whether anxiety symptoms mediate the relationships between hopelessness and depressive symptoms in mothers with newborn infants admitted to the NICU.Methods: This cross-sectional descriptive study was conducted in the NICU of a university hospital in Turkey between October 2021 and March 2022. A total of 100 mothers whose infants were hospitalized in the NICU participated in the study. The data were collected using the Sociodemographic Data Form, Beck Depression Inventory (BDI), State-Trait Anxiety Inventory (STAI) and Beck Hopelessness Scale (BHS). Linear regression analysis was used to examine the effect of demographic characteristics on scale scores. In order to test whether the anxiety score has a mediating role in the relationship between hopelessness and depression, the analysis was made based on the bootstrap method and the Maximum Likelihood method.Results: Levels of the depression, anxiety and hopelessness levels of the NICU mothers were not affected by the demographic variables of the parent and the infant. Hopelessness was found to predict depressive symptoms (ß = 0.476; p < .050). In addition, according to the mediator variable analysis results, it was found that anxiety had a mediating role between the level of hopelessness and depressive symptoms (ß = 0.596; p < .050). Accordingly, hopelessness explains 52.5% of the change in depression along with anxiety.Conclusion: Our study detailed the specific process of depressive symptoms caused by hopelessness in NICU mothers.

BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.

OBJECTIVE: To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Medical Genetics and Pediatric Metabolism Outpatient Clinic, Faculty of Medicine, Harran University, between January 2018 and June 2020. METHODOLOGY: Two hundred and nine patients, who were found positive for biotinidase deficiency in heel blood screening, were included. Genomic DNA was isolated from peripheral blood. Next-generation DNA sequencing analysis was performed using primers covering the exon regions of the BTD gene. The results were analysed by the mutation surveyor programme. RESULTS: The most common mutation was c.1330 G>C (p.D444H) and the second most common mutation was c.470 G>A (p.R157H). The majority of the mutations are missense; and they are especially located in the exon 4. The most frequent mutations were found to be D444H and R157H with a rate of 66.66% in symptomatic patients. CONCLUSION: Common mutations in BTD deficiencies were indentified. Associating them with phenotype-genotype data will assist clinicians in better genetic counselling and management in the future by implementing prevention programmes. Key Words: Biotinidase deficiency, BTD gene, Newborn screening, Inherited metabolic disease, Newborn screening programme.

Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.

OBJECTIVES: Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed to evaluate the results of biochemical enzyme activity in accordance with the presence of genetic mutations and investigate the correlation between genotype and biochemical phenotype together in the study. METHODS: This retrospective study was carried out using data from medical records of 133 infants detected by the newborn screening followed by serum biotinidase activity (BA) detection with semi-quantitative colorimetric method. Mutation analysis was performed to confirm the diagnosis. In addition, the expected biochemical phenotype based on the known mutant alleles were compared with the observed biochemical phenotype. RESULTS: When confirmed with mutation analysis results, the diagnostic sensitivity and specificity of serum BA with spectrophotometric method was 93.1% and 95.1%, respectively. In 93.98% of the cases conformity was observed between the biochemical phenotype and the genotype. The c.1330 G>C(p.D444H) and c.470 G>A (p.Arg157His) were the most common allelic variants with frequencies of 63.69% and 33.75%, respectively. CONCLUSIONS: The diagnostic test is supposed to have a high sensitivity to identify asymptomatic BD patients. Apparently healthy cases with almost normal enzyme activity and a variant allele in the genetic analysis were reported to present symptoms under stress conditions, which should be kept in mind. This study can be accepted as an informative report as it may contribute to the literature in terms of the allelic frequency and determination of the relation between genotype and biochemical phenotype. Also, method verification including the assessment of possible effects of non-genetic factors on BA according to the certain mutation types is warranted.