The Turkish journal of pediatrics最新文献

Objective: Management of type 1 diabetes (T1DM) is quite challenging for both adolescents and their families. In this study, we aimed to translate the 14-item Problem Areas in Diabetes-Teen (PAID-T) scale, which measures variables that influence diabetes distress, to Turkish and investigate the Turkish version's reliability and validity.

Methods: One hundred and ninety-four adolescents with T1DM participated in the study. PAID-T and forms for sociodemographic and diabetes characteristics were used for data collection. The scale's content validity was checked using the Davis technique. Cronbach's α was used to analyze the scale's internal reliability and the test-retest for the scale's reliability. Exploratory factor analysis (EFA) was utilized to examine the factor structure. The fit of the scale was assessed using confirmatory factor analysis (CFA).

Results: Of the participants, 54.6% (n=106) were girls. The content validity index values of the scale items ranged between 0.86 and 1.0. The PAID-T scores of girls and boys were similar. No significant difference was found between PAID-T scores with sociodemographic data and diabetes characteristics (p>0.05). The test-retest correlation coefficient of the scale was found to be 0.952. The three-factor (emotional burden, family and friend distress, and regimen-specific distress) model identified in EFA explained 61.8% of the common variance. Fit analysis was performed using CFA for the three-factor model, which did not show adequate fit (x2/df = 2.402, GFI = 0.822, CFI = 0.815, NFI = 0.727, NNFI = 0.772, RMSEA = 0.118). The Cronbach α value of the scale was 0.864.

Conclusion: The Turkish version of the 14-item PAID-T showed moderate validity and strong reliability. Accordingly, it can be used as a reliable measurement tool to assess diabetes stress in adolescents with T1DM.

Background: Sexual abuse in children can sometimes result in sexually transmitted infections (STIs), which can serve as crucial forensic evidence. Although PCR methods are now accepted as the gold standard for STI screening, they have not yet widely replaced traditional culture methods in Türkiye. This study aims to assess the necessity of implementing PCR-based STI testing at Child Advocacy Centers in Türkiye, where such testing is not routinely available.

Methods: Conducted between February and November 2023, this study included children who presented to the Child Advocacy Center of Marmara University Pendik Training and Research Hospital. High-risk victims were identified based on criteria including a history of penetrative sexual abuse and factors such as multiple perpetrators or significant age disparity. Serological tests and genital swabs were collected and analyzed using both bacterial culture methods and a comprehensive STI PCR panel.

Results: The study included 20 victims, with a median age of 16 years. STI PCR testing detected pathogens in 19 out of 21 samples, including Chlamydia trachomatis (20%) and Neisseria gonorrhoeae (5%). In contrast, culture methods identified no sexually transmitted pathogens.

Conclusion: PCR testing demonstrated significantly higher sensitivity for detecting STIs compared to traditional bacterial culture methods, as expected. Implementing PCR-based STI testing in Child Advocacy Centers is an urgent and essential need for providing an accurate diagnosis and robust forensic evidence, enhancing the care and legal protection of sexually abused children.

Background: Biotin is a water-soluble vitamin that plays a key role in carboxylation. The formation of free biotin is impaired in biotinidase deficiency (BD), resulting in impaired biotin-dependent carboxylase functions. Based on the percentage of residual serum enzyme activity, BD is classified as partial and profound.

Methods: Retrospective data including gender, age, parental consanguinity, family history, biotinidase activity analyses, type of deficiency (partial-profound), physical examination, treatment, and genotypes were evaluated in patients diagnosed with biotinidase deficiency in a single center in the eastern region of Türkiye. Patients whose biotinidase enzyme activity was below 30% with biallelic variants in the BTD gene were diagnosed as BD.

Results: A total of 302 patients were included in the study. Parental consanguinity was present in 135 (44.7%) of them. Two hundred eighty-six (94.7%) were diagnosed by neonatal screening, 14 (4.6%) by family screening and two (0.06%) by clinical symptoms. Ninety-two (30.5%) of the patients were followed-up with profound deficiency and 210 (69.5%) with partial deficiency. A total of 306 variants were detected. Twenty different variants (3 novel - 3 rare) and 31 different genotypes were detected. The 3 most frequently detected variants were c.410G>A (p.Arg137His; 47.3%), c.1270G>C (p.Asp424His; 29.7%), and c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36; 15.3%). The 3 most frequently identified genotypes were c.410G>A (p.Arg137His) / c.1270G>C (p.Asp424His) compound heterozygous (32.4%), c.410G>A (p.Arg137His) homozygous (24.8%), and c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36) / c.1270G>C (p.Asp424His) compound heterozygous (12.2%). Patients with c.410G>A (p.Arg137His) homozygous variant, c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36) homozygous variant and c.38_44delGCGGCTGinsTCC (p.Cys13Phefs*36) / c.410G>A (p.Arg137His) compound heterozygous variant were statistically significantly associated with profound deficiency. Compound heterozygosity of c.410G>A (p.Arg137His) / c.1270G>C (p.Asp424His) variants were significantly associated with partial deficiency.

Conclusions: The association between the BTD genotype and biochemical phenotype is not always consistent. Our study provides valuable data by adding variants with genotype-phenotype correlations to the literature and three novel variants, which can provide significant guidance in clinical follow-up.

Background: Spinal muscular atrophy (SMA) is an inherited disease with progressive muscle weakness and atrophy. Despite the new treatments developed recently, primary and secondary effects of muscle weakness in patients with SMA cause mortality and morbidity. The aim of this study is to identify common problems in the follow-up of patients after new treatment modalities and to examine the difficulties in management of these problems.

Methods: The study included 16 patients diagnosed with SMA type 1 according to clinical findings and genetic results between 2017 and 2022. The patients were divided into two groups as living and deceased, and complications were examined and compared between the groups.

Results: The patients comprised 8 (50%) females and 8 (50%) males with a median age at diagnosis of 3 months. The patients had a history of gastrointestinal problems, orthopedic problems, infection and sepsis, and especially respiratory distress. Death occurred in 8 (50%) patients during follow-up (median age 38 months). Mortality was higher in patients who needed tracheostomy and had gastroesophageal reflux. The survival rate was better in patients who received more nusinersen treatment and had a higher CHOP-INTEND score.

Conclusions: Despite new-generation treatments for SMA type 1, morbidity and mortality rates remain very high. As the survival rate in SMA type 1 increases, the incidence of complications similar to those frequently seen in SMA type 2 and type 3 patients also increases. The follow-up and treatment of patients with SMA should be undertaken by a multidisciplinary team.

Background: Food allergy is a public health issue that has a significant impact on the lives of families. Parental self-efficacy/confidence is important in managing food allergies. The aim of this study is to validate the "Food Allergy Self-Efficacy Scale for Parents" (FASE-P) and assess parental self-efficacy in managing their child's food allergy.

Methods: Turkish version of the FASE-P (T-FASE-P) was administered to 347 parents of children aged 0-18 who had been followed for at least one month due to food allergy at the Pediatric Allergy Clinic of Prof. Dr. Cemil Taşcıoğlu City Hospital between September 1 and December 31, 2023, through face-to-face interviews and online surveys for parents of children with food allergies from the general population. Content validity, exploratory factor analysis (EFA), and confirmatory factor analysis (CFA) were conducted to evaluate the validity of the scale. General Self-Efficacy Scale (GSES) was used for concurrent criterion validity. Internal consistency analysis, test-retest application, and item analysis were conducted to assess its reliability.

Results: T-FASE-P scale initially contained 21 items, and the Cronbach's alpha coefficient (α) calculated in this form was found to be 0.89. Later, when 4 items were excluded, the 17-item version of the scale was calculated as α=0.90. The intra-class correlation coefficient between the test and re-test was found to be 0.972. The content validity index value of the scale was calculated as 0.99, indicating that the content validity was at a sufficient level. In the EFA, it was determined that the scale formed a three-factor structural model and that this model explained 60.82% of the total variance. As a result of the CFA, the fit indices were calculated as χ2/df=2.341, GFI=0.919, TLI=0.950, indicating a good level of fit. Based on the analysis results, T-FASE-P consists of 17 items and three subscales.

Conclusion: T-FASE-P scale is a valid and reliable measurement tool that can be used to determine the food allergy self-efficacy of Turkish parents.

Background: Children with cancer often undergo prolonged and recurrent hospitalization, which leads to an increased incidence of sleep disruptions and psychiatric disorders. This study aimed to objectively quantify the prevalence of sleep disruptions in hospitalized pediatric oncology patients and to determine the effects of psychiatric disorders, treatment regimens, and hospital conditions on sleep patterns.

Method: This cross-sectional study included 39 children who were undergoing treatment and monitoring in the pediatric oncology inpatient service. Parents completed questionnaires providing information about their child's sleep patterns, quality of life, and hospital conditions. The children were monitored for five days using actigraphy to record sleep parameters. They were evaluated with a semi-structured interview form (Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version-DSM 5-Turkish Adaptation) for psychiatric diagnoses.

Results: Sleep disruptions were identified in 27 (69.2%) children with cancer. In addition to adjustment disorder and anxiety disorder psychiatric diagnoses, behavioral problems and emotional symptoms were more common in the group with sleep disruptions. Actigraphy measurements indicated that poor sleep was associated with younger age, recent cancer diagnosis, specific phobias, depression, daytime napping, and frequent vital sign assessments.

Conclusion: Sleep problems in hospitalized children with cancer are linked to psychiatric comorbidities, treatment routines, and hospital conditions. By recognizing psychiatric symptoms and optimizing hospital conditions that affect sleep, healthcare providers can enhance the quality of sleep for these children.

Objectives: This study aimed to assess blood and hair lead levels (BLL and HLL) in children with chronic constipation and compare them to healthy children; and investigated lead exposure's role in the etiology of constipation. It also explored the correlation between BLL and HLL.

Study design: The study included 84 constipated children aged 3-18 years as the case group and an equal number of constipation-free children as controls. Organic diseases were ruled out through history-taking, physical exams and laboratory tests. Blood and hair samples were collected and analyzed for lead levels using standardized methods.

Results: The constipated children group had significantly higher BLL (3.66 µg/dL) compared to the control group (1.61 µg/dL) with no significant HLL difference. Additionally, 48.8% of constipated children exceeded the reference value of 3.5 μg/dL, in contrast to 4.8% of the control group. BLL was unaffected by gender and age, while HLL were higher in girls and low ages. No significant correlation existed between BLL and HLL. The age of the housing showed a positive correlation with higher BLL and HLL. Lead exposure sources like drinking water, home renovation history, parental smoking, or nearby industrial facilities showed no significant relationships with lead levels.

Conclusions: Understanding the constipation-lead exposure link is crucial for prevention and intervention. HLL may vary with gender and age due to external lead particles, which is why BLL continues to be a more reliable measure. Healthcare providers should remember to investigate lead exposure risk factors in constipation patients and test BLL when necessary.

Background: Immunoglobulin A vasculitis (IgAV), the most common systemic vasculitis in children, typically presents with gastrointestinal (GI) symptoms in about half of cases. This study aimed to analyze the clinical and laboratory findings of patients with IgAV regarding GI involvement.

Methods: We compared the GI involvement data of the patients diagnosed with IgAV.

Results: Of the 210 patients (60.5% female and 39.5% male), 101 had GI involvement, with abdominal pain being the predominant symptom (n=98). White blood cell, neutrophil, monocyte, and platelet counts, C-reactive protein, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), systemic immune-inflammation index (SII), and systemic inflammation response index (SIRI) were significantly elevated in patients with GI involvement (p<0.001, p<0.001, p=0.01, p=0.005, p=0.002, p<0.001, p=0.03, p=0.001, p<0.001, p<0.001, respectively). The cutoff values for SII (>1035.7), SIRI (>1.65), NLR (>2.73), and MLR (>0.28) were determined, yielding respective sensitivities of 46%, 59%, 47%, and 53%, specificities of 83.1%, 69.1%, 81.3%, and 71.9%. Corresponding areas under the curve were 0.658, 0.668, 0.649, and 0.634, respectively (all p<0.001).

Conclusion: Although IgAV is a self-limiting disease, GI involvement can lead to serious consequences. Systemic inflammatory indices such as SII and SIRI may be indicative in identifying patients with GI involvement.

Background: Pseudothrombocytopenia is a spurious thrombocytopenia caused mostly by ethylenediaminetetraacetic acid (EDTA) use, and if detected early, unnecessary testing and treatment can be avoided. We present pseudothrombocytopenia caused by EDTA and citrate in an asymptomatic healthy child, as well as the value of using peripheral blood smear, platelet histogram, and flag data.

Case: A previously healthy 13-year-old girl with thrombocytopenia who developed tonsillitis 12 days previously was referred to our hematology department. Laboratory tests revealed severe thrombocytopenia (17x103/µL) in EDTA samples. A peripheral blood smear revealed numerous platelet clumping. We hypothesized EDTA-dependent pseudothrombocytopenia and ordered a platelet count by citrate tube. A citrate tube revealed thrombocytopenia with a platelet count of 55x103/µL. The platelet count (175x103/µL) returned to normal with heparin tubing. All blood samples had a similar platelet histogram and flags in the autoanalyzer. The platelet histogram indicated a serrated/sawtooth curve containing the largest platelet aggregates. Platelet flags alert messages about platelet clumping.

Conclusions: Peripheral blood smear is the most reliable test for pseudothrombocytopenia. If the physician has no experience with smear examination, both laboratory technician and physician should be aware of abnormal platelet histograms and platelet clumping messages in platelet flags, which indicate pseudothrombocytopenia.