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Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

Doxorubicin (DXR) extravasation result with serious morbidity like skin ulceration and necrosis. The purpose of this study is to determine the protective effects of ozone, olive oil, dimethyl sulfoxide (DMSO), and coenzyme Q10 in the treatment of DXR-induced skin ulcers on rats. After an intradermal injection of DXR on a basis of an animal extravasation model, the materials were topically applied. The ulcer sizes were measured, and a punch biopsy was taken from the extravasation site in which the skin ulcers formed at the end of the experiment. The samples were analyzed for tumor necrosis factor alpha (TNF-α), interleukin 1-beta (IL1β), malondialdehyde (MDA), superoxide dismutase (SOD), and glutathione peroxidase (GSH-Px) enzymes, and examined histopathologically. The ulcer sizes clearly decreased in the study groups, including DMSO, olive oil, ozone plus coenzyme Q10, and ozone plus olive oil groups in comparison with the control group with the exception of the coenzyme Q10 group. The malondialdehyde levels were lower in the DMSO, olive oil, ozone plus olive oil, and ozone plus coenzyme Q10 groups than they were in the control group, but they were not significantly different. The TNF-α level was lower in the DMSO, ozone plus olive oil, coenzyme Q10, and ozone plus coenzyme Q10 groups in comparison with the control group. There was no significant change in the SOD, GSH-Px, and IL1β levels in the study groups in comparison with the control and the sham groups. The ozone plus olive oil group could be considered to be an alternate therapy for skin ulcers due to DXR extravasation., (© The Author(s) 2015.)

In addition to its nutritional benefits, human milk also has bioactive elements. Limited immunological functions of newborns are supported and altered by the immunological elements of mother milk. Chemokines are of importance among these immune factors. Interleukin-8 (IL-8) has been demonstrated in mother's milk, and its receptors, CXC chemokine receptors (CXCR)-1 and CXCR-2, were detected on cells, responsible for immunological reactions and mammary glandular cells. The soluble forms of these receptors are yet to be described in human milk. In this study, it was aimed to assess the IL-8 levels and the concentrations of its receptors in colostrum and mature mother's milk in regard to preterm and term delivery. The results of this study indicated a decline in IL-8 levels with the lactation stage, but no difference was observed between term and preterm mother's milk. Regarding the CXCR-1 and CXCR-2, the concentrations of these receptors were similar in both colostrum and mature milk. Furthermore, there was not any significant difference between term and preterm mother's milk. In conclusion, this is the first study to investigate the concentrations of CXCR-1 and CXCR-2 with the levels of IL-8 in colostrum and mature human milk of term and preterm newborns. The alterations in IL-8 levels were similar in some of the studies reported. CXCR-1 and CXCR-2 levels did not demonstrate any significant difference. Further studies are required to investigate the soluble forms of these receptors and their relation to IL-8 with larger cohort.

Background: In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF)., Methods: In this 24-week, multicenter, randomized controlled noninferiority trial, pediatric patients newly diagnosed with FMF carrying a homozygous or compound heterozygous mutation and not receiving any treatment were included. Patients were randomly assigned using a block randomization method to receive treatment with a once- or twice-daily dosage. Clinical and laboratory characteristics and medication side effects were recorded and compared between groups. The study was carried out in compliance with Good Clinical Practice and the Consolidated Standards for Reporting of Trials (CONSORT) statement., Results: A total of 92 patients were selected, and 79 patients completed the study. There were 42 patients in the once-daily dosage group and 37 in the twice-daily dosage group. The results indicated that the once-daily dosage was not inferior to the twice-daily dosage regarding decrease in attack frequency and duration as well as improvement in clinical findings and Mor severity scores. Alterations in laboratory findings indicating inflammation, such as erythrocyte sedimentation rate, C-reactive protein, and serum amyloid A, were similar in both groups. The rates of drug side effects were similar between the once- and twice-daily dosage groups, implying comparable safety of colchicine, with the exception of diarrhea, which was slightly higher in the once-daily dosage group., Conclusions: Using colchicine with either a once- or twice-daily dosage provides similar clinical and laboratory improvements. Considering both efficacy and safety, colchicine can be prescribed with a once-daily dosage., Trial Registration Id: ClinicalTrials.gov identifier NCT02602028 . Registered 5 November 2015.

Background: Many factors contribute to the development of BPD basically by increasing inflammation in preterm lungs. However, premature neonates have insufficient anti-inflammatory capacity. We aimed to evaluate the effect of etanercept, an anti-TNF agent, on BPD development in newborn rat model with hyperoxia-induced lung injury., Methods: Thirty-two newborn rats were divided into 3 groups as control group (Group 1, n = 11), hyperoxia + placebo group (Group 2, n = 10), and hyperoxia + etanercept group (Group 3, n = 11). Histopathological and biochemical analysis were performed in order to assess inflammation and oxidative stress. Superoxide dismutase (SOD), glutathione peroxidase (GSH-Px) activities, and malondialdehyde (MDA) levels were studied, histopathological scoring and radial alveolar count were applied in lung tissue. Lamellar body membrane protein, vascular endothelial growth factor (VEGF), nuclear factor-kappaB (NF-κB) gene expressions were studied in immunohistochemical evaluation of tissue samples. All three groups were compared with each other in terms of all parameters., Results: SOD and GSH-Px activities were significantly higher, whereas MDA levels were lower in group 3, compared to group 2 (p < 0.001). Histopathological scores were lower, lamellar body membrane protein expression and radial alveolar count were higher in group 3 (p < 0.05). NF-κB expression was higher in group 2, but lower in group 3 in comparison with group 1. Expression of VEGF was decreased in group 2 but came close to group 1 with etanercept treatment in group 3., Conclusions: We found etanercept treatment to be protective in newborn rats with hyperoxia-induced lung damage.

Background: The aim of this study was to evaluate the diagnostic value of Upar, IL-33, and ST2 in comparison with C-reactive protein, TNF-α, and Interleukin-6 in childhood sepsis., Methods: A total of 128 children were included and 20 of them were the control group. We used only data showing a high probability of sepsis with blood culture positive children, because of this reason 68 children were excluded. Blood was collected from children from first day of sepsis (1st value) and 48 - 72 hours later (2nd value)., Results: There were significant differences between control and sepsis (1st value) for IL-33 levels (1.1 ± 0.28 ng/ mL and 5.23 ± 1.80 ng/mL, p = 0.01), for sST2 levels (6.73 ± 5.3 ng/mL and 53.23 ± 28.30 ng/mL, p = 0.01), for sUpar levels (3.3 ± 1.7 ng/mL and 15.2 ± 6.3 ng/mL, p = 0.01), respectively. There were significant differences between sepsis (1st value) and sepsis (2nd value) for IL-33 levels, for sST2 levels, and for suPAR levels., Conclusions: In the light of these results, it may be suggested that Upar, IL-33, and ST2 can be used as an acute phase reactant like C-reactive protein, TNF-α, and Interleukin-6 in the diagnosis of childhood sepsis.

Background: Neonatal sepsis is an important cause of neonatal morbidity and mortality in the neonatal intensive care unit. Soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) has been evaluated in sepsis and septic shock, and it was found to be valuable in distinguishing septic cases from nonseptic cases. Endocan is constitutively expressed by endothelial cells, and high levels of endocan may be of relevance for the promotion of systemic inflammation. The aim of this study was to investigate whether the levels of sTREM-1 and endocan were increased in late-onset neonatal sepsis., Methods: Patients were classified into septic and nonseptic groups. Blood was collected from a peripheral vein of all septic newborns and healthy newborns at the time of initial laboratory evaluation before any treatment, and within 48-72 hours after initiation of treatment. Serum sTREM-1 and endocan measurements were performed when the study was finished., Results: The study population comprised of 50 neonates: 20 nonseptic neonates and 30 septic neonates. The groups were similar with regards to baseline characteristics. The initial measurements of interleukin-6 (IL-6), sTREM-1, endocan, and immature/total neutrophil ratio (I/T ratio) were significantly higher in septic neonates in comparison with nonseptic neonates. Receiver operating characteristic (ROC) curve analyses revealed that IL-6, sTREM-1, endocan, and I/T ratio resulted in significant areas under the curve (AUC) with respect to early identification of septic neonates. Soluble TREM-1 and IL-6 performed best to distinguish septic neonates from nonseptic neonates. Univariate logistic regression analysis showed that increased IL-6 and sTREM-1 were strong predictors of neonatal late-onset sepsis., Conclusion: Serum sTREM-1, IL-6, endocan levels, and I/T ratio increased in septic neonates. However, the diagnostic accuracy of circulating sTREM-1 seemed to be better than endocan and I/T ratio, but lower than IL-6., (Copyright © 2015. Published by Elsevier B.V.)

Objectives: To develop and assess the validity and reliability of an adherence scale concerning medical treatment in paediatric FMF patients., Methods: The Medication Adherence Scale in FMF Patients (MASIF) is a 18-item questionnaire that evaluates adherence to medication in four domains. Validation of the instrument was accomplished in paediatric FMF patients (aged 2-18 years) under medication at least for 6 months. The first step was to build up the scale through qualitative approach (with interviews using semi-structured questions). Validation analyses included assessment of feasibility, face and content validity; construct validity, internal consistency and test-retest reliability., Results: One hundred and fifty patients with FMF were enrolled in the study. The mean age of the patients was 11.11±4.02 years and 48.7% of them were male. The MASIF was found to be feasible and valid for both face and content. It correlated with the Morisky Medication Adherence Scale as a gold standard thereby demonstrating good construct validity (r=0.515, p<0.001). Assessment of content validity identified four subscales. The internal consistency, Cronbach's alpha was 0.728. There was a positive and significant correlation between test and retest scores (r=0.843; p<0.001). Also, a significant correlation between parents' and children's reports (r=0.781, p<0.001)., Conclusions: Based on these results, the use of this scale to assess and follow up the adherence to treatment in paediatric FMF patients under medical treatment is recommended.

Objective: Neonatal sepsis remains a major cause of morbidity and mortality in newborns. The chemokine CXCL12 and its receptor CXCR4 are now known to play an important role in inflammatory states. However, it is unclear how chemokines respond to late-onset neonatal sepsis., Methods: Patients were classified into the groups of septic and non-septic ones. Samples of venous blood were obtained from all septic and non-septic newborns at the beginning and within 48-72 h after initiation of treatment. Serum levels of CXCR4 and CXCL12 were measured., Results: Concentrations of IL-6, CXCR4 and CXCL12 at the time of diagnosis were significantly higher in the septic neonates compared with the non-septic ones. Additionally, there were statistically significant differences in septic neonates between the first and the second levels of IL-6, CXCR4, CXCL12 and I/T ratio. ROC curve analyses revealed that IL-6, CXCR4, CXCL12 and I/T ratio resulted in significant AUC with respect to early identification of septic neonates. Univariate logistic regression analysis showed that increased IL-6, CXCR4 and CXCL12 were strong predictors of neonatal LOS., Conclusions: Serum CXCR4 and CXCL12 levels increase in septic neonates and that both chemokines decrease within 48-72 h of treatment. Serum concentrations of both chemokines represent promising novel biomarkers for neonatal sepsis.

Objective: The aim of this study is to provide normative data about pituitary diameters in a pediatric population. Pituitary imaging is important for the evaluation of the hypothalamo-pituitary axis defect. However, data about normal pituitary gland diameters and stalk are limited, especially in children. Structure and the measurements of pituitary gland and pituitary stalk may change due to infection, inflammation, or neoplasia., Methods: Among 14,854 cranial/pituitary gland magnetic resonance imaging scans performed from 2011 to 2013, 2755 images of Turkish children aged between 0 and 18 were acquired. After exclusions, 517 images were left. Four radiologists were educated by an experienced pediatric radiologist for the measurement and assessment of the pituitary gland and pituitary stalk. Twenty cases were measured by all radiologists for a pilot study and there was no interobserver variability., Results: There were 10-22 children in each age group. The maximum median height of the pituitary gland was 8.48±1.08 and 6.19±0.88 mm for girls and boys, respectively. Volumes were also correlated with gender similar to height. Minimum median height was 3.91±0.75 mm for girls and 3.81±0.68 mm for boys. The maximum and minimum pituitary stalk basilar artery ratios for girls were 0.73±0.12 and 0.59±0.10 mm. The ratios for boys were 0.70±0.12 and 0.56±0.11 mm., Conclusion: Our study demonstrated the pituitary gland and stalk size data of children in various age groups from newborn to adolescent. It is thought that these data can be applied in clinical practice. Future prospective follow-up studies with larger samples, which correlate the structural findings with the clinical and laboratory results are awaited.

Background: Bronchopulmonary dysplasia (BPD) remains an important complication of preterm births. The soluble form of ST2 (sST2), interleukin-33 (IL-33), and soluble form of the urokinase plasminogen activator receptor (suPAR) have attracted increasing attention as biomarkers for different diseases. The aim of the current study was to assess the predictive value of plasma sST2, IL-33, and suPAR levels in patients with risk of BPD development., Methods: A total of 38 babies were studied prospectively on delivery to the neonatal intensive care unit. Serum levels of IL-33, sST2, and suPAR were measured using enzyme-linked immunosorbent assay. Serum samples were collected from umbilical cord (at the time of delivery, termed CB) and peripheral blood (on day 14, termed PB)., Results: Levels of suPAR (PB-suPAR) and sST2 (PB-sST2) in the peripheral blood of the BPD group were significantly higher than the corresponding levels in the non-BPD group (P < 0.001, P = 0.028, respectively. There was a statistically significant correlation between PB-suPAR levels and the severity of BPD (P < 0.001)) when the suPAR results were analyzed using the receiver operating characteristic curve., Conclusion: PB-suPAR and PB-sST2 levels are sensitive and specific independent predictive biomarkers in preterm babies with BPD.

Background: To determine the frequency of ophthalmologic problems and the risk factors that affect the occurrence of these problems in premature newborns with a gestational age of 32 weeks or less., Methods: Premature newborns observed at a neonatal intensive care unit between January 2002 and March 2006 were included. A control visit including an ophthalmologic examination was performed at 10 months of age or later. Primary ocular morbidities were studied, and the association between these parameters and prenatal, perinatal, and neonatal characteristics were evaluated., Results: A total of 169 premature newborns were included in the study, and they were examined at a mean age of 25.85 ± 11.79 months (range: 10 to 42 months). There was complete vision loss (blindness) in 1 (0.6%) case, strabismus in 15 (8.9%) cases, and refractive errors in 10 (5.9%) cases. Twenty (77%) cases with any abnormality and 50 (35%) cases with a normal examination at follow-up had a history of retinopathy of prematurity (ROP) at any stage during the neonatal period (P = .001). Short gestational age (P = .018), low birth weight (P = .002), and the presence of ROP requiring retinal surgery during the neonatal period (P = .007) were determined to be significant risk factors for the development of vision loss, strabismus, and refractive errors., Conclusion: Neonates with a gestational age of 32 weeks or less, especially those younger than 30 weeks, should not only be screened for ROP in the neonatal period, but should also have regular follow-up examinations to check for the development of other ophthalmologic problems during infancy and early childhood., (Copyright 2010, SLACK Incorporated.)

Our objective was to determine the incidence of early neonatal problems and the neurodevelopmental status and probable risk factors associated with neurodevelopmental abnormality in preterm infants of < or = 32 weeks of gestation. Preterm newborns of < or = 32 weeks of gestation followed at the neonatal intensive care unit of the Department of Pediatrics of Gülhane Military Medical Academy, Ankara, Turkey, were evaluated with a complete neurological examination and the Bayley Scales of Infant Development at a mean age of 25.85 + or - 11.79 months (range, 10 to 42 months). Multivariate logistic regression analyses were performed to determine the probable risk factors associated with neurodevelopmental abnormalities. Regarding the results of the neurological examination in a total of 169 preterms included in the study, 28 (16.6%) and 14 (8.3%) patients were determined to have mild neurological dysfunction or cerebral palsy, respectively. The rate of psychomotor abnormality according to a low Bayley Psychomotor Development Index (PDI) score was 24.8%, and the rate of mental/cognitive abnormality on the basis of a low Bayley Mental Development Index (MDI) score was 25.4%. In the subgroup of infants with < or = 29 weeks of gestational age (n = 55); 22 (40%) patients had an abnormal neurological examination, and 24 (43.6%) and 23 (41.8%) patients had low Bayley PDI and MDI scores, respectively. In the study group, logistic regression analysis revealed the significant predictors of an abnormal neurological examination to be the duration of mechanical ventilation (odds ratio [OR], 1.133; 95% confidence interval [CI], 1.062 to 1.208) and necrotizing enterocolitis (OR, 6.697; 95% CI, 1.776 to 25.252). One of the major conclusions of the present study is the risk of neurodevelopmental sequelae in one of every four preterm infants with <32 weeks of gestation and the need for follow-up in this group. Measures in neonatal care and treatment, such as the use of less traumatic modes of mechanical ventilation with as short duration as possible as well as increasing perinatal/antenatal care, should be taken to overcome these risk factors., (Thieme Medical Publishers.)

Objective: The objectives of the present study were to measure the activity of chitotriosidase (ChT) in human milk, to record changes in enzyme activity over time and to determine whether there are differences in activity between the milk of mothers of full-term (FT) and premature (PT) infants., Patients and Methods: Three samples were collected from each of 28 mothers (26.9+/-4.3 years of age; mean+/-SD) of FT infants (gestational age, 39.1+/-0.9 weeks; birth weight, 3384.8+/-369.8 g.; median, 3485 g) and 28 mothers (26.6+/-3.6 years of age) of healthy PT infants (gestational age, 30.5+/-3.1 weeks; birth weight, 1400+/-492.9 g.; median, 1285 g). Samples were collected at 3, 7 and 28th days after delivery. ChT activity was estimated using the fluorimetric method. ChT activities were calculated and expressed as nanomoles per milliliter per hour., Results: ChT activity was higher in the PT group than in the FT group at day 3 [170.2 (14.0-294.8) vs. 81.7 (6.9-306.3) nmol/mL/h], day 7 [31.6 (0.0-166.7) vs. 17.2 (0.0-214.1) nmol/mL/h] and day 28 [5.5 (0.0-64.9) vs. 3.4 (0.0-51.6) nmol/mL/h]., Conclusion: The higher ChT activity in milk of mothers of PT infants than those of FT infants suggests the presence of activated macrophages as its main source. ChT is well known to play a role in defense against fungi and have the ability to degrade both colloidal chitin and chitin in the cell wall of Candida albicans. Thus, our findings may indicate that infants have a natural advantage for protection from fungus infections when they are fed by their mothers' milk.

Although the relationship between hyperbilirubinemia and genetic factors has long been questioned, the role of genetic factors in the development of severe hyperbilirubinemia and kernicterus has been investigated in detail in the last decade with the rapid progression in molecular medicine. Although the first historical data gathered about genetical tendency to neonatal hyperbilirubinemia dates back to description of the Crigler-Najjar syndrome in 1952, a substantial interest is currently focused on coding and promoter region mutations of uridine diphosphoglucuronate glucuronosyltransferase 1A1 gene. In this article, the role of uridine diphosphoglucuronate glucuronosyltransferase gene mutations in neonatal significant hyperbilirubinemia and kernicterus is reviewed together with the clinical presentations of the most common syndromes of bilirubin conjugation, such as Gilbert and Crigler-Najjar syndromes. Genetic counseling and investigation may be useful and necessary in newborns presenting with severe, unexplained familial hyperbilirubinemia. In these various syndromes where enzymatic and genetic deficiencies are present, studies about treatment with gene replacement, though currently experimental, are ongoing, especially in type 1 Crigler-Najjar.