The Turkish journal of pediatrics最新文献

Background: Pulmonary hemorrhage (PH) leads to acute and catastrophic deterioration in neonates, and there is no curative treatment available. Off-label use of recombinant Factor VIIa (rFVIIa) is a promising treatment to control bleeding. The aim of this study was to investigate the efficacy and safety of rFVIIa in neonatal massive PH.

Methods: We used rFVIIa for PH in our neonatology unit during October 2022. We compared demographic and prognostic data of neonates with PH, for two years prior to and following this time point. Intravenous rFVIIa (50-90 μg/kg/dose) was administered to patients with life-threatening PH that was unresponsive to conventional therapies including surfactant administration, vitamin K treatment, blood product transfusion, increasing airway pressure, high frequency ventilation, and endotracheal adrenaline. Potential side effects, such as thromboembolism, were monitored for one week.

Results: We present 16 neonates (7 females; 14 preterm) treated with rFVIIa in addition to conventional treatments and compared their clinical outcomes with the rFVIIa-untreated group (n=21). Median (interquartile range [IQR]) birth weight (960 [775-2377] vs 910 [710-1360] g, p=0.20) and gestational age (29 [27-32] vs 27 [27-29] weeks, p=0.25) did not significantly differ between the groups. Median (IQR) postnatal day of PH occurrence was 7.5 (3-15) in the rFVIIa-treated group and 3 (1.5-6) in the rFVIIa-untreated group (p=0.019). Overall, six neonates died of PH complications in the intervention group. All neonates responded to rFVIIa to varying degrees (cessation of bleeding, n=11; reduced bleeding, n=5). A second dose was required in three. No thromboembolism was observed during the treatment period. Death attributable to PH [6 (37%) vs 16 (76%), p=0.042] and overall mortality (7 [43%] vs 18 [86%], p.

Background: The disease process can negatively affect both children and their parents, causing them to experience uncertainty. This study aims to determine whether the Turkish version of the Parents' Perceptions of Uncertainty Scale (PPUS) is a valid and reliable instrument for measuring Turkish parents' perceptions of uncertainty.

Methods: Data were collected from 351 parents. Data collection tools included the Descriptive Data Form, PPUS, and the Brief Symptom Inventory (BSI). Language, face, and content validity, descriptive statistics, internal consistency analyses, explanatory and confirmatory factor analyses, and convergent validity analyses were conducted.

Results: The content validity index (CVI) was calculated as 0.96. As a result of the exploratory factor analysis, a four-factor structure with 23 items explaining 57.98% of the total variance was obtained. Confirmatory factor analysis supported the model fit. The Cronbach's alpha coefficient for the final version of the scale was 0.923. Convergent validity showed a significant positive relationship with the BSI (r=0.69).

Conclusions: The Turkish version of PPUS (PPUS-TR) was found to be a valid and reliable measurement tool.

Background: YKL-40 is a glycoprotein secreted by various cell lines during inflammation and vascular dysfunction. Sickle cell disease (SCD) also involves inflammation and endothelial dysfunction processes. Thus, we aimed to assess the levels of YKL-40 in pediatric SCD patients.

Methods: We evaluated serum levels of YKL-40 in children with steady state SCD and those with vaso-occlusive crisis (VOC) episodes and compared them with healthy subjects.

Results: Overall, 33 children with SCD and 33 healthy controls participated in this study. Serum YKL-40 concentrations of children with steady state SCD were significantly higher than the concentrations found in the healthy controls (median [Q1-Q3]: 71.0 [53.3-133.3] vs. 43.6 [37.9-69.9] ng/mL, p=0.001). Seventeen of the 33 children with SCD (51.5%) had a VOC during the one-year follow-up period. Steady state and VOC episode YKL-40 did not significantly differ in children who were experiencing VOC during the one-year follow-up (77.6 [55.2-126.8] vs. 69.7 [49.3-100.0] ng/mL, p=0.381). During VOC episodes, children with SCD had significantly higher YKL-40 levels than the healthy controls (69.7 [49.3-100.0] vs. 43.6 [37.9-69.9] ng/mL, p=0.005). YKL-40 levels at steady state and during VOC episodes did not show significant correlation (p=0.955).

Conclusions: YKL-40 may have a potential role in the inflammation component of SCD. Circulating YKL-40 levels may be used to monitor chronic inflammation in SCD patients.

Background: In Türkiye, tree nut allergy (TNA) is the most common form of food allergy, characterized by persistence and the potential for life-threatening reactions. This study aimed to evaluate the quality of life (QoL) of Turkish children aged 0-12 years with IgE-mediated TNA and explore influential factors, including parental anxiety.

Materials and methods: Primary caregiver-parents of children diagnosed with TNA completed the Food Allergy Quality of Life Questionnaire-Parent Form (FAQLQ-PF) and State-Trait Anxiety Inventory (STAI) to assess QoL and parental anxiety, respectively.

Results: Of 120 eligible patients diagnosed with TNA, 88 were included in the study. Questionnaires were completed by mothers in 79 cases (90%) and fathers in 9 cases (10%). Parents reported significantly higher FAQLQ-PF scores for children with hazelnut allergy, a history of anaphylaxis, and those who had to use an adrenaline auto-injector. There was significant but weak correlations between FAQLQ-PF and anxiety (STAI) domains. The multivariate linear regression analysis revealed that having a hazelnut allergy, a history of anaphylaxis, and higher parental state anxiety were all associated with higher FAQLQ-PF scores, but fathers tended to report better level of QoL.

Conclusion: QoL for children with TNA is influenced by several factors such as adverse life experiences, local and situational factors, and parental anxiety. Understanding these diverse factors is crucial for enhancing the well-being of children with TNA.

Objective: Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to positive newborn screening (NBS) tests for PKU, providing insights into screening and diagnosis.

Methods: The health records of infants who were referred with suspicion of PKU through the Turkish national NBS program to a single referral center between January 2016 and January 2023 were retrospectively reviewed. The study analyzed demographic data, clinical findings, and diagnostic results from hospital records. Logistic regression analysis identified significant predictors of age at admission.

Results: This study highlights significant regional differences within Türkiye regarding DBS collection, result reporting, and age at admission. Significant delays in age at admission (expressed as median, [Q1-Q3]) were noted in the Eastern Anatolia (34 days [27-42]), Southeastern Anatolia [34 days (25-42)], and Black Sea regions [26 days (19-33)]. Out of the referred infants, 5.1% and 2.4% had transient tyrosinemia and transient hyperphenylalaninemia, respectively, and these transient conditions were more prevalent among neonates with a history of jaundice. Phenylalanine level was normal in 38.1% of the patients and was considered false positive. Among the 26 (2.36%) patients admitted after 90 days (late admissions), there were 2 PKU patients with untreated Phe levels >20 mg/dL (n=2). Among the 140 infants requiring treatment, 1.43% (n=2) were late admissions (>90 days). A history of PKU in the family and higher initial Phe levels were associated with earlier admissions.

Conclusion: This comprehensive analysis underscores the need to enhance NBS programs, particularly in regions with identified delays. Improving healthcare infrastructure, increasing awareness, and implementing targeted health policies are crucial for timely diagnosis and treatment. Future research should address regional disparities and optimize screening protocols to improve outcomes for affected infants.

Background: Although the use of inflammatory markers in diagnosing Brucella-related complications has been the subject of research, studies on osteoarticular disease are insufficient, especially in children. This study aimed to compare inflammatory markers in children diagnosed with brucellosis, distinguishing between those with and without osteoarticular involvement (OI).

Methods: In this retrospective study, patients diagnosed with brucellosis from 1 month to 18 years of age were evaluated. Data collected included age, gender, OI, treatment duration, complete blood count, inflammatory markers including neutrophil-monocyte ratio (NMR), monocyte-lymphocyte ratio, neutrophil-lymphocyte ratio, platelet-lymphocyte ratio, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and Brucella serum agglutination test (SAT) results. OI was confirmed by MRI in symptomatic patients. The results of patients with and without OI were compared.

Results: The study included 38 patients, 23.7% having OI (8 with sacroiliitis and 1 with spondylitis). The median age of patients with OI was significantly higher than those without (p=0.037). All patients with OI (n = 9, 100%) had an SAT titer ≥ 1/640. Among patients without OI, 62% (n = 18) had an SAT titer ≥1/640. This difference was statistically significant (p = 0.028). Patients with OI had higher CRP levels (p=0.038) but similar ESR levels compared to those without. WBC levels were significantly lower in the group with OI (p=0.015). NMR was significantly higher in those with OI (p=0.012).

Conclusions: Lower WBC counts and higher CRP and NMR levels can predict OI in children with brucellosis at the time of admission. However, our findings should be validated through prospective studies involving larger patient groups.

Background: Hypoactive delirium may go unrecognized unless routinely screened. At present, there is no valid screening tool for delirium in the Turkish language. This study was conducted to translate the Cornell Assessment of Pediatric Delirium (CAPD) into Turkish and to evaluate its validity and reliability.

Methods: In this is validation study, CAPD assessments were conducted by pediatric intensive care unit nurses and compared with assessments by a child psychiatrist.

Results: A total of 76 patients were included, 37 participants (48.6%) were younger than 24 months, and 22 participants (28.9%) had developmental disabilities. Prevalence of delirium was 25.0% (n=19). Inter-rater agreement for the identification of delirium by psychiatrists was strong and reliable, with a Cohen's kappa value of 0.86 (95% confidence interval [CI]: 0.72-0.99). Inter-rater reliability for nurses was also significant, with a Cohen's kappa of 0.74 (95% CI, 0.57-0.91). Inter-rater reliability ranged from 0.64 to 0.84 for each CAPD item except item 6, indicating reliable scoring. Sensitivity and specificity improved when the CAPD cut-off score was increased from 9 (100% and 95%, respectively) to 11 (100% and 98.02%, respectively). Subgroup analyses showed high sensitivity and specificity in patients with developmental delay (96%) and in patients under 2 years of age (96%) when the CAPD cut-off score was 9. However, specificity decreased slightly to 93% in patients under 6 months of age.

Conclusion: The Turkish CAPD, the first delirium screening scale translated into Turkish, has demonstrated validity and reliability in screening for delirium in children of all ages, including those with developmental disabilities.

Background: Necrotizing enterocolitis (NEC) is a prevalent and challenging intestinal disease in premature infants, lacking a specific pathogen consistently associated with its occurrence. Effectively preventing and treating NEC to reduce mortality rates remains a significant contemporary challenge. The present study aimed to explore the correlation between microRNA-149 gene polymorphism and NEC in premature infants in a Chinese Han population.

Methods: The expression levels of serum miR-149 were determined using reverse transcription-quantitative polymerase chain reaction (RT-qPCR). Polymorphism detection of the miR-149 gene rs2292832 polymorphism was performed by polymerase chain reaction. Multivariate logistic regression analysis was employed to investigate the association between the rs2292832 polymorphism and risk factors for NEC in preterm infants.

Results: General clinical data were compared between 102 preterm infants diagnosed with NEC and 263 preterm infants without NEC. Significant differences were observed in gestational age and birth weight. However, no significant differences were found in antenatal steroid use, sex, or feeding patterns between the two groups. The expression level of serum miR-149 was significantly reduced in premature infants with NEC, and there were differences in the allele frequency of the miR-149 rs2292832 polymorphism between the NEC group and control group. Specifically, the T allele and TT genotype of rs2292832 were associated with an increased susceptibility to NEC. Furthermore, both gestational age and the rs2292832 polymorphism showed a significant association with NEC risk, with the rs2292832 polymorphism of miR-149 being identified as the most prominent risk factor for NEC development in preterm infants.

Conclusions: The rs2292832 gene polymorphism of miR-149 may potentially exert an influence on susceptibility to NEC.

Background: Duchenne muscular dystrophy (DMD) is a progressive X-linked dystrophinopathy with onset in early childhood. Affected individuals present predominantly with proximal lower limb weakness and pseudohypertrophy of calf musculature being a prominent sign, heralding the onset of contractures in the large joints of lower limbs. Kocher-Debre-Semelaigne syndrome (KDSS) refers to the muscular pseudohypertrophy that develops in children with long-standing hypothyroidism.

Case presentation: We present an 11-year-old boy with progressive walking difficulty for two years and associated decrease in appetite and chronic constipation. Physical examination revealed mild soft goitre, proximal lower limb weakness, areflexia (except for preserved weak ankle reflex), soft hypertrophy of bilateral calf muscles and latissimus dorsi, with bilateral dynamic ankle joint contractures. Investigations showed moderately elevated total serum creatine phosphokinase (CPK) levels, elevated serum thyroid stimulating hormone (TSH), low free T4, normal free T3 and elevated serum anti-thyroid peroxidase and anti-thyroglobulin antibody titers. A diagnosis of hypothyroidism secondary to Hashimoto's thyroiditis with Kocher-Debre-Semelaigne syndrome (KDSS) (thyroid myopathy) was made while multiplex ligation-dependent probe amplification confirmed DMD. He was started on steroids and levothyroxine. On follow up, he had improvement in activity, appetite and motor movements (North Star Ambulatory Assessment score 3 to 7).

Conclusion: As a very rare coincidence, our patient suffered from two different diseases with similar presentation which are DMD and KDSS. Subtle clinical clues of joint contractures and goitre helped us identify these unrelated co-existing diseases. An alternate diagnosis must be thought of when all clinical findings cannot be explained by a single disease.

Background: The Rh blood group system is the most common cause of hemolytic disease of the fetus and newborn (HDFN). Rh antigens are fully expressed at birth unlike ABO antigens which are weakly expressed. Sensitization to the D antigen can occur with exposure to < 0.1 mL of fetal blood. In rare cases of HDFN, these passively transferred IgG anti-D antibodies coat the D antigens on the newborn's red blood cells and interfere with the agglutination of D-positive red cells when tested with IgM anti-D typing reagents, resulting in false-negative Rh(D) typing. This "blocked D phenomenon," can pose a diagnostic challenge.

Case presentation: This case report describes twins with HDFN born to a Rh(D) negative mother. Both cord blood and neonatal blood were incorrectly typed as Rh(D) negative using routine typing reagents, creating a diagnostic dilemma. The combination of a positive direct antiglobulin test (DAT), the mother's RhD-negative status, a positive indirect antiglobulin test (IAT), and discordant or unexpected RhD typing in the neonate raised suspicion of blocked D phenomenon. Paired samples from the parents and neonates were analysed. Following gentle heat elution at 45°C for 10 minutes, the neonatal red cells were re-typed as RhD positive using the conventional tube technique with monoclonal IgM anti-D. At the 6-month follow-up, both infants were phenotyped as O RhD positive.

Conclusions: The possibility of the blocking phenomenon should be considered while interpreting blood group results from fetal or neonatal samples in an alloimmunized pregnancy with potent antibodies. All pregnant women, regardless of their RhD type, should be tested for clinically significant unexpected serum antibodies during pregnancy. Elution methods help in identifying correct D antigen when Rh(D) typing gives uncertain results. Antiglobulin testing with anti-IgG should be performed to detect antibodies causing hemolytic disease of the fetus and newborn (HDFN).