Background. Alagille syndrome (ALGS) is an autosomal dominant multisystem developmental disorder associated with JAG1 and NOTCH2 mutations. Although vascular involvement is recognized, life-threatening intracranial hemorrhage as the initial presentation is extremely rare. Case Presentation. A 5-year-old male presented with a severe headache and was diagnosed with intracerebral and subarachnoid hemorrhage caused by multiple ruptured intracranial aneurysms. Genetic testing confirmed a pathogenic JAG1 mutation, establishing the diagnosis of ALGS. The patient, who had known aortic stenosis, developed infective endocarditis—raising the possibility that infection was driving the aneurysms. After two microsurgical craniotomies, he ultimately died of multi-organ failure. Conclusions. This case highlights a rare presentation of ALGS involving acute rupture of multiple intracranial aneurysms, complicated by cardiac malformation and infective endocarditis, with newly formed aneurysms highly suspected to be infection-driven. ALGS should be considered in young children presenting with early intracranial hemorrhage, particularly when cardiac anomalies coexist. Early multidisciplinary intervention may prevent the catastrophic sequelae of ALGS-associated intracranial aneurysms.
Background. Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and has a high prevalence in Türkiye. Despite shared ethnic ties, pediatric FMF in Azerbaijan remains poorly characterized. This study aimed to systematically compare the clinical, laboratory, and genetic characteristics of pediatric FMF patients from Türkiye and Azerbaijan to determine whether common ancestral origins result in uniform disease expression. Methods. This retrospective bicentric study enrolled pediatric FMF patients aged 0–18 years who met the Eurofever/PRINTO criteria and had ≥12 months of follow-up at specialized centers in Türkiye and Azerbaijan. Demographics, clinical features, laboratory findings, Mediterranean FeVer (MEFV) genotypes, severity scores, and treatment data were compared. Results. The cohort comprised 549 patients: 477 (86.9%) Turkish and 72 (13.1%) Azerbaijani. Azerbaijani patients had earlier symptom onset (30 [IQR 16-67] vs. 48 [IQR: 24–72] months, p=0.044) but a longer diagnostic delay (14 [IQR: 11.4–48.7] vs. 12 [IQR: 6–23] months, p<0.001). Turkish patients showed higher rates of chest pain (22.6% vs. 8.3%, p=0.005), arthralgia (52.6% vs. 32 %, p= 0.001), annual attack frequency (12 [IQR: 6–12] vs. 6 [IQR: 4–8], p<0.001), International Severity Score for Familial Mediterranean Fever (ISSF) scores (2 [IQR: 1–3] vs. 2 [IQR: 1–2], p=0.002), and C-reactive protein (CRP) levels (56 [IQR: 34–96] vs. 17.9 [IQR: 3.2–35.6] mg/L, p<0.001). Confirmatory exon 10 genotypes predominated in Turkish patients (66.7%) whereas unconfirmatory genotypes in Azerbaijani patients (59.7%). M694V was the most common variant in both groups. Within exon 10 homozygotes, Turkish patients had higher ISSF scores (median 3 [IQR: 2–4] vs. 2 [IQR: 1–3], p=0.037) and more arthritis (39% vs 6.3%, p=0.032). Colchicine response was comparable (90.6% vs. 93.1%), but anti–IL-1 use was higher in Turkish patients (11.5% vs. 2.9%, p=0.028). Conclusion. This first systematic Türkiye–Azerbaijan comparison reveals distinct genotype–phenotype correlations in pediatric FMF, with Turkish patients showing a higher burden of confirmatory exon 10 genotypes and more severe disease, highlighting the need for center- and population-aware management strategies.
Background. Clean intermittent catheterization (CIC) is an established treatment for lower urinary tract dysfunction and has been used across age groups with voiding problems due to various etiologies. Although medically safe and straightforward, CIC may create social and emotional challenges for adolescents and their caregivers. During adolescence, when autonomy and peer acceptance become central, the need for continuous catheterization in daily life and, at times, dependence on another person can be difficult to cope with and may affect psychological well-being and peer relations. This study aimed to examine factors associated with potential psychopathology, self-perception, peer relationship characteristics, and quality of life in adolescents performing CIC. Methods. This prospective cross-sectional study included 50 adolescents aged 12–18 years: 25 performing CIC and 25 age and sex-matched healthy controls. Participants with intellectual disability, low mental capacity preventing comprehension of study procedures, or uncorrected vision/hearing deficits were excluded. Psychiatric diagnoses were assessed using the Schedule for Affective Disorders and Schizophrenia for School-Aged Children—Present and Lifetime Version DSM-5 (K-SADS-PL). Self-perception, quality of life, behavioral difficulties, and peer relationships were evaluated using the Piers-Harris Children’s Self-Concept Scale, Pediatric Quality of Life Inventory, Strengths and Difficulties Questionnaire, and Peer Relationship Scale. Parental attitudes and caregivers’ psychological symptoms were assessed using the Parental Attitude Research Instrument and the General Health Questionnaire-28. Statistical analyses were performed using SPSS version 23.0. Group comparisons were conducted using the independent samples t-test or Mann–Whitney U test as appropriate; categorical variables were analyzed with the Chi-square or Fisher’s exact test. Multiple linear regression analysis was performed to identify independent predictors. A two-tailed p value <0.05 was considered statistically significant. Results. The groups were similar in age, sex and sociodemographic characteristics. Adolescents performing CIC showed higher social avoidance and poorer peer relationships. Eight adolescents (32%) in the CIC group met criteria for at least one psychiatric disorder according to DSM-5. Negative parental attitudes, maternal mental disorders, primary etiology requiring CIC, age at self-catheterization initiation, and catheterization performed by another individual were identified as significant predictors of lower self-esteem, reduced quality of life, and poorer peer relationships. Conclusion. CIC may have meaningful psychological and psychosocial effects on adolescents, influenced by clinical variables and parental factors. Early identification of risk indicators and strengthening of protective factors are essential. A multidisciplinary approach incorporating psychiatric, familial, and psychosocial components should be included in the management and follow-up of adolescents performing CIC.
Introduction. RNU4ATAC-opathy is a rare autosomal recessive disorder characterized by a wide clinical spectrum, including brain anomalies, seizures, strokes, immunodeficiency, and cardiac defects. Other manifestations include ophthalmologic, dermatologic, renal, gastrointestinal, auditory, and endocrine involvement. Here, we report the identification of pathogenic RNU4ATAC variants through whole exome sequencing in an infant presenting with microcephaly, growth failure, and immunodeficiency. Case Presentation. We describe an 11-month-old infant who had been followed since 4 months of age for growth failure and developmental delay. During follow-up, the patient experienced episodes of neurological deterioration triggered by febrile illnesses associated with SARS-CoV-2 and respiratory syncytial virus infections (RSV) at 9 and 11 months of age, respectively. Immunological evaluation showed normal immunoglobulin levels, a marked reduction in switched memory and memory B cells, impaired T-cell activation, and decreased T-cell subpopulations, suggesting combined immunodeficiency that may have contributed to increased susceptibility to viral infections. Whole exome sequencing subsequently identified compound heterozygous pathogenic variants in the RNU4ATAC gene, confirming the diagnosis of RNU4ATAC-opathy. Discussion. RNU4ATAC-opathy should be considered in cases with microcephaly, growth failure, immunodeficiency, and skeletal abnormalities. Our case shows that RNU4ATAC-opathy may present as infection-related encephalopathy, together with combined T- and B-cell dysfunction. Early immunological assessment and timely initiation of prophylactic therapy could play a key role in improving survival. Genetic and immunological evaluations are essential for accurate diagnosis, early intervention, and effective management. Further research is needed to clarify the syndrome’s impact on immune function and guide targeted therapies.
Background. Congenital malformations of the external iliac arteries (EIAs) are rare and may be associated with other congenital anomalies, such as vertebral, cardiac, or limb anomalies, anal atresia, and tracheoesophageal fistula (VACTERL). These anomalies can be classified into three categories: anomalies of origin or course, hypoplasia or atresia with a persistent sciatic artery, and isolated hypoplasia or atresia. We report a term neonate with left leg cyanosis within the first 48 hours of life due to an isolated congenital EIA malformation. Case Presentation. A male term neonate was delivered by emergency cesarean section at 40 weeks’ gestation for suspected asphyxia (birth weight 4040 g, length 52 cm, Apgar scores 10, 10). The pregnancy was uncomplicated except for gestational diabetes. The neonate showed no signs of distress or cyanosis at birth. Asymptomatic hypoglycemia was corrected with oral glucose. On the second day of life, the neonate developed cyanosis of the left lower limb, accompanied by delayed capillary refill (6 seconds), weak distal pulses, and reduced oxygen saturation (60–70%) as measured by pulse oximetry. Echocardiography excluded cardiac defects. Doppler ultrasound revealed high-grade stenosis of the left EIA, which was confirmed by magnetic resonance angiography, showing collateral circulation and no persistent sciatic artery. Coagulation tests were normal, and the neonate remained asymptomatic. At the 1-year follow-up, he demonstrated normal growth and neurodevelopment, with clinically normal development of the affected lower limb. Conclusions. Neonatal limb cyanosis should prompt further evaluation after excluding other, more common conditions. Persistent cyanosis, especially when accompanied by weakness, atrophy, or length discrepancy, should raise suspicion for EIA malformations. To the best of our knowledge, this is the third reported case of EIA malformation and the first case of congenital segmental stenosis in a neonate. Despite their rarity, these malformations require consideration and early non-invasive imaging in unilateral limb cyanosis.
Introduction. Wilms tumor is the most common renal malignancy in children. Survival rates now exceed 90% with multimodal therapy. This study aims to retrospectively analyze 104 pediatric Wilms tumor patients diagnosed over a 47-year period at our institution, examining demographic characteristics, tumor staging, treatment modalities, complications, recurrence rates, and survival outcomes. Materials and Methods. This retrospective single-center study included 104 pediatric patients diagnosed with Wilms tumor between January 1, 1978, and January 31, 2025. Patients were stratified into early (1978–2005) and late (2006–2025) periods. Survival analysis was performed using the Kaplan–Meier method and multivariable Cox proportional hazards regression. Results. The 5-year overall survival (OS) and event-free survival rates were 61.1% and 57.3% in the early era, 86.8% and 81.5% in the late era, and 73.6% and 65.8% in the overall cohort. OS was significantly lower in patients with anaplasia (p=0.035), advanced-stage disease (p=0.004), and in those treated in the early era (p=0.009). In multivariable analysis, treatment era and metastatic disease at diagnosis were independently associated with poorer survival, whereas anaplasia did not retain statistical significance after adjustment. Conclusion. Survival outcomes improved substantially over time. Metastatic disease at diagnosis and treatment era were the strongest independent predictors of survival, while advanced stage and anaplasia were associated with outcome in univariable analyses.
Background. Studies on gastroptosis and gastroparesis in children are limited. This prospective study aimed to evaluate the frequency of gastroptosis and gastroparesis and their association with duodenogastric reflux (DGR) and treatment-resistant dyspeptic symptoms in children. Methods. The study evaluated pediatric patients aged 2-18 years with dyspepsia who underwent upper gastrointestinal endoscopy between March 2020 and June 2022. Fluoroscopy and gastric emptying scintigraphy were performed in 88 patients (50 with DGR and 38 with treatment-resistant dyspepsia). Results. The mean age of the patients was 13.7±3.6 years, and 62 (70.5%) were girls. Gastroptosis was detected in 22 (25%) and gastroparesis in 24 (27%) of all 88 patients. Gastroptosis was present in 10 (20%) and gastroparesis in 20 (40%) of the 50 patients with DGR. Gastroptosis was present in 12 (32%) and gastroparesis in 4 (11%) of the 38 patients with treatment-resistant dyspepsia. Gastroparesis was more common in those with DGR (40%) than in those with treatment-resistant dyspepsia (11%) (p=0.09). Gastroptosis was also detected in 14 (58.3%) patients with gastroparesis. The median body mass index (BMI) z-score of those with gastroptosis was significantly lower than those without gastroptosis (p=0.002). Conclusions. Gastroptosis and gastroparesis were frequently identified in children with treatment-resistant dyspeptic symptoms or DGR. These conditions should be considered and investigated in this patient population.
Background. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common cause of recurrent fever in childhood. Although normal growth and development are included in the diagnostic criteria, this assumption has not been systematically evaluated in controlled studies. This study aimed to compare growth patterns and developmental screening outcomes between children with PFAPA and healthy controls. Methods. A total of 138 children were enrolled, including 69 patients diagnosed with PFAPA according to the modified Marshall criteria and 69 age- and sex-matched healthy controls. The PFAPA group consisted of 26 females (37.7%) and 43 males (62.3%), while the control group included 26 females (37.7%) and 43 males (62.3%). The mean age was 52.1 ± 13.86 months in the PFAPA group and 50.28 ± 13.70 months in the control group. Growth was assessed using anthropometric parameters, including height, weight, body mass index (BMI), weight-for-height, and mid-upper arm circumference. The primary outcome was overall growth pattern, assessed by anthropometric measures, with particular attention to BMI. Developmental screening was performed using the Denver II Developmental Screening Test. Results. Mean anthropometric measures, including height, weight, and BMI, were comparable between patients with PFAPA and controls. However, overweight/obesity was more prevalent in the PFAPA group than in controls (18.8% vs. 5.8%; odds ratio [OR] 3.77, 95% confidence interval [CI] 1.16–12.24, p=0.020). Patients with PFAPA who were overweight/obese had received a higher number of corticosteroid treatments (p=0.046). Developmental screening outcomes did not differ significantly between groups. Conclusion. In this case-control study, children with PFAPA demonstrated overall growth patterns and developmental screening results similar to those of healthy peers, although a higher prevalence of overweight/obesity was observed. These findings support, but do not definitively establish, the assumption of preserved growth and development in PFAPA and underscore the need for further longitudinal studies.
Background. Brain abscesses (BA) are a medical emergency in all age groups and require early diagnosis and treatment. Childhood BA constitute 25% of all abscesses and may have a different clinical course than adults. This article aims to investigate patients followed up for adult and child BA over a 10-year period. Materials and Methods. A retrospective analysis was performed on adult and pediatric patients diagnosed with BA. Demographic, clinical, predisposing factors, imaging, treatment modalities, and prognosis of the patients, and clinical differences were examined. Results. Of a total of 46 patients; 54.3% of the patients were children and the mean age was 10.9±6.3 years for the pediatric group and 46.2±16.7 years for the adult group. Fever, vomiting, and seizures were significantly higher in children (p<0.05). When the differences between the groups were examined, headache was the most common finding in the adult group, while the most common finding in children was fever and vomiting. The classic triad of fever, headache, and focal neurological deficits was present in 12 (48%) of the children, compared to only 4 (19.1%) of the adults. Trauma history (21.7%), immunosuppression (19.5%), and local spread (mastoiditis, sinusitis, and otitis) (32.6%) were among the most common predisposing factors. Previous otorhinolaryngogenic infections were the most common cause in children (36%), while immunosuppression was the most common cause in adults (28.5%). The frontal lobe was most frequently involved among the patients (47.8%). BA was more commonly localized in the left hemisphere in both groups. Culture growth was detected in 23.9% of all operated patients, with a positivity rate of 20% in children and 28% in adults. The most common microorganism was Staphylococcus aureus (8.6%). The average hospitalization time was significantly longer in children than in adults (46 ± 18 days vs 34 ± 13 days; p=0.024). 26.1% of the patients recovered with sequelae, and the mortality rate was 8.6%. Conclusion. Our findings suggest that a high index of suspicion should be maintained for BA in children, especially in the presence of fever, vomiting, and seizures. This study highlights significant clinical and etiological differences between pediatric and adult BA, underscoring the importance of age-specific diagnostic and management strategies. The differences observed in clinical presentation and underlying causes between the two groups warrant further investigation to improve outcomes.
Background. Esophageal atresia (EA) is a congenital malformation often associated with long-term gastrointestinal complications and impaired growth. This study aimed to evaluate anthropometric outcomes in children with EA, with particular attention to the impact of associated conditions such as anastomotic stricture and gastroesophageal reflux (GER). Methods. We conducted a retrospective analysis of patients with type C EA who underwent primary anastomosis between 2005 and 2021. Anthropometric data were collected at four age intervals (<1 year, 1–4 years, 5–11 years, >11 years) and standardized using validated growth charts. Associations between anthropometric parameters and the presence of stricture or GER were analyzed. Results. Fifty-seven patients met the inclusion criteria. Stricture and GER were identified in 32% and 30% of patients, respectively. Infants (<1 year) with stricture had significantly lower BMI Z-scores -2.5 ± 0.7 than those without stricture (-1.1 ± 1.1; p=0.0093), while those with GER had significantly lower weight Z-scores (-2.1 ± 1.0) than those without GER (-1.2 ± 1.1; p=0.0443). Although most patients showed improvement in anthropometric parameters with age, early growth impairment was consistently observed in association with these complications. Conclusions. Children with EA are at risk of impaired growth during early childhood, particularly when stricture or GER is present. Regular anthropometric monitoring and early nutritional intervention are crucial, especially within the first year of life. Long-term multidisciplinary follow-up is recommended to optimize developmental outcomes.
Background. The aim of this study was to conduct school-based scoliosis screening among fifth-grade students and to determine the rate of screening positivity for suspected scoliosis. Methods. During the 2024–2025 academic year, scoliosis screening was conducted among 6,587 students attending all middle schools in Eskişehir province, Türkiye. Data were collected through scoliosis screening examinations performed by physiotherapists and a questionnaire administered to the students. The screening examinations included visual inspection, the forward bending test, and measurements using a scoliometer. Students with a trunk rotation ≥5° on scoliometer assessment and/or with physical signs such as visual asymmetry, scapular, shoulder, or pelvic imbalance, or apparent leg length discrepancy were referred for specialist evaluation. Chi-square test and logistic regression analysis were performed. Results. The ages of the students ranged between 10-11 years (mean ± standard deviation: 10.26±0.44). According to the assessments performed by physiotherapists, visual asymmetry suggestive of scoliosis was observed on inspection in 240 students (3.6%). Scoliometer measurements showed trunk rotation angles of 5 degrees or greater in 355 students (5.4%). As a result of the screening examinations, 725 students (11.0%) were screening-positive for suspected scoliosis and were referred to higher-level healthcare facilities for further evaluation. Risk factors were more prevalent among female students. In multivariate analysis, screening positivity for suspected scoliosis was significantly associated with female sex, low body mass index, a family history of scoliosis in first-degree relatives, chest stabbing sensation or pain during breathing, and skin findings on the back (discoloration, large nevi, or localized hypertrichosis). Conclusions. This study determined that the screening positivity rate for suspected scoliosis among fifth-grade students was 11.0%. Factors that may be associated with scoliosis were found to be more common in female students; however, the multifactorial nature of scoliosis suggests that screening positivity may be influenced by a complex interaction of biological, anthropometric, familial, and postural factors. The findings also highlight the importance of early recognition and risk-based approaches in school-aged populations, and underscore the public health relevance of awareness and screening practices integrated within existing school health services and primary care.
Background. Autoimmune manifestations are increasingly recognized as late complications following hematopoietic stem cell transplantation (HSCT), particularly in association with chronic graft-versus-host disease (cGvHD). However, the occurrence of systemic lupus erythematosus (SLE)-like features remains extremely rare, especially in pediatric patients. Understanding the mechanisms underlying such manifestations, including the role of mixed chimerism, is important for early recognition and management. Case Presentation. We report the case of a girl with thalassemia major who underwent HSCT from a fully matched unrelated donor at the age of six years. Her early post-transplant course was complicated by gastrointestinal cGvHD, followed by autoimmune hemolytic anemia and arthritis, which responded to corticosteroids and methotrexate. Four years post-HSCT, she developed a lupus-like syndrome characterized by malar rash, serositis, cytopenias, arthritis, high-titer antinuclear antibodies (ANA), elevated anti-double-stranded DNA (anti-dsDNA) antibodies, and low complement levels, fulfilling the American College of Rheumatology classification criteria for SLE. At the time of symptom onset, mixed chimerism was documented, with a notable proportion of recipient-derived lymphocytes. Treatment with mycophenolate mofetil and hydroxychloroquine led to rapid clinical and laboratory improvement. Conclusion. This case illustrates the evolving nature of post-transplant immune dysregulation and suggests that declining donor chimerism may contribute to the reactivation of autoreactive lymphocytes, leading to atypical autoimmune manifestations. In pediatric patients presenting with unusual post-transplant symptoms, careful clinical assessment and immune monitoring may aid in timely diagnosis. Individualized immunosuppressive therapy can facilitate symptom control and support favorable long-term outcomes.
Background. Children with a solitary functioning kidney (SFK) are at risk for hypertension and kidney injury despite compensatory renal growth. However, the relationship between compensatory enlargement and blood pressure abnormalities remains controversial. This study is an exploratory observational study aimed at assessing ambulatory blood pressure monitoring (ABPM) parameters in children with an SFK and to evaluate the relationship between compensatory kidney enlargement and blood pressure indices. Methods. Thirty-three children aged 6–18 years with an SFK (22 renal agenesis, 11 atrophic kidneys) were evaluated. Compensatory enlargement was defined as kidney length >97.5th percentile for height. All participants underwent anthropometric assessment, serum creatinine measurement, estimated glomerular filtration rate (GFR) calculation, and 24-hour ABPM. ABPM values were expressed as standard deviation scores (SDS) adjusted for age and sex. Results. Compensatory enlargement was present in 17 (51.5%) patients. Those with compensatory enlargement showed significantly higher 24-hour systolic BP SDS (0.64±1.07 vs. –0.22±1.03, p=0.024), nighttime systolic BP SDS (1.36±1.04 vs. 0.38±0.93, p=0.008), nighttime diastolic BP SDS (1.42±1.17 vs. 0.48±0.70, p=0.009), and nighttime MAP SDS (1.43±0.99 vs. 0.48±0.84, p=0.006). Kidney length SDS correlated positively with 24-h systolic BP SDS (r=0.44, p=0.01) and nighttime MAP SDS (r=0.45, p=0.009). Logistic regression analysis revealed that compensatory enlargement independently predicted elevated blood pressure (OR 10.06, 95% CI 1.03–97.77, p=0.047) after adjustment for age, height SDS, and weight SDS. Conclusions. Compensatory hypertrophy in SFK may not be entirely benign and could reflect an adaptive process associated with altered blood pressure regulation. Higher nocturnal blood pressure in patients with compensatory enlargement may suggest subclinical hemodynamic stress. These findings suggest that children with compensatory kidney enlargement may exhibit subtle alterations in ambulatory blood pressure patterns, warranting further investigation in larger longitudinal studies.
Background. This study retrospectively evaluates the microbiological profile, antibiotic susceptibility patterns, and the effectiveness of empirically initiated antibiotic therapies in children with perforated appendicitis, based on intraoperative peritoneal fluid culture and antibiogram results. Methods. A total of 154 pediatric patients (97 boys, 57 girls; mean age 9.15 ± 4.08 years) underwent surgery for perforated appendicitis between 2014 and 2020. Before surgery, patients received one of three empirical antibiotic combinations: (1) Ampicillin/sulbactam, metronidazole, and amikacin; (2) ceftriaxone and metronidazole; (3) cefotaxime and metronidazole. Peritoneal fluid samples collected intraoperatively were cultured, and microbial growth and susceptibility profiles were analyzed. Results. A total of 167 strains were isolated. The most common microorganisms were Escherichia coli (79.0%), Pseudomonas aeruginosa (13.8%), Klebsiella pneumoniae (2.4%), Enterobacter cloacae (1.8%), Enterococcus raffinosus (2.4%), and Staphylococcus hominis (0.6%). Before surgery, Combination 1 was administered to 97 patients (63.0%), Combination 2 to 38 patients (24.7%), and Combination 3 to 19 patients (12.3%). Antibiotic susceptibility of the isolated microorganisms was as follows. E. coli: ampicillin/sulbactam 23%, ceftriaxone 60%, cefotaxime 92%, amikacin 99%. P. aeruginosa: ampicillin/sulbactam 8%, ceftriaxone 16%, cefotaxime 0%, amikacin 99%. K. pneumoniae: ceftriaxone 75%, cefotaxime 75%, amikacin 100%. E. raffinosus: ceftriaxone 33%, cefotaxime 100%, amikacin 100%. Postoperative modification of empirical therapy was required in 102 cases (66.2%) Conclusions. High resistance rates to commonly used empirical antibiotics were observed among isolated microorganisms, highlighting the need for regular revision of empirical treatment protocols and greater reliance on intraoperative culture results in pediatric perforated appendicitis.
Background. The 16p11.2 deletion is one of the most frequent recurrent copy number variations associated with a broad neurodevelopmental and phenotypic spectrum. Despite its relatively well-characterized genomic region, clinical expressivity remains highly variable, posing challenges for diagnosis and management. Methods. We conducted a retrospective single-centre study of 25 individuals with molecularly confirmed 16p11.2 deletions, including 13 males (52%), 12 females (48%), and 7 familial (28%). Both de novo and inherited cases were included. The main testing method was chromosomal microarray, although karyotyping and additional tests such as sequencing and trinucleotide repeat testing were also utilized. Comprehensive clinical data were collected from medical records, including neurodevelopmental, neuropsychiatric, metabolic, skeletal, and systemic features. Results. The majority of the cases had the typical ~600 kilobase deletion while two had distal ~220kb deletion. One patient was found to have a double genetic diagnosis. Developmental delay was almost universal in the probands, with expressive language significantly more impaired than receptive language abilities. Intellectual disability / learning difficulties and language problems were observed in 18/25 (72%) cases. Around half of the probands showed obesity and related hyperphagia. Autism spectrum disorder, attention deficit hyperactivity disorder, stereotypic movements, and aggressive behaviour were frequently reported. Epilepsy was present in thirteen patients (52%), with electroencephalographic abnormalities supporting generalized or focal epileptiform activity. Dysmorphic facial features and skeletal anomalies such as pes equinovarus, syndactyly, and scoliosis were variably present. Brain magnetic resonance imaging revealed abnormalities in several patients, including hypoplasia of the corpus callosum and intracranial hypertension. Additional systemic findings included hepatic steatosis, constipation, and ophthalmologic anomalies. Parental testing revealed asymptomatic or mildly affected carriers in multiple cases. Conclusion. Our findings emphasize the broad and heterogeneous clinical spectrum of 16p11.2 deletions in a Turkish cohort. Early recognition, multidisciplinary evaluation, and family-based genetic counselling are essential for timely diagnosis and optimal care of affected individuals.
Background. The clinical utility of procalcitonin (PCT) and proadrenomedullin (ProADM) in children with malignancies remains inadequately characterized. This study was designed to assess baseline PCT and ProADM levels at the time of leukemia diagnosis and to compare their profiles during subsequent episodes of febrile neutropenia (FN). Methods. Children aged 18 years or younger with newly diagnosed acute leukemia, including acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), were prospectively recruited for this study. Serum levels of PCT and ProADM were measured at baseline, prior to the initiation of chemotherapy at the time of diagnosis, and were reassessed during subsequent episodes of FN. Results. A total of 80 children with acute leukemia were prospectively enrolled, with a median age of 5 years (interquartile range [IQR]: 3-7 years). The study population comprised of ALL in 67.5% of cases and AML in 32.5%. At the time of diagnosis, prior to chemotherapy initiation (n=80), the median serum PCT level was 0.19 ng/mL (IQR: 0.07–0.54), while the median ProADM level was 0.04 nmol/L (IQR: 0.01–0.07). Among the 80 patients, 32 children subsequently developed FN and had paired serum samples available for comparative analysis. During FN episodes, both biomarkers showed a significant increase relative to baseline values. Median PCT increased from 0.16 ng/mL (0.08–0.52) at diagnosis to 0.32 ng/mL (0.08–0.50) during FN (P = 0.03), while median ProADM increased from 0.03 nmol/L (0.006–0.05) to 0.41 nmol/L (0.20–0.81) (P < 0.001). At the time of leukemia diagnosis, splenomegaly was the only clinical factor significantly associated with elevated baseline PCT levels (P = 0.010). Subgroup analysis revealed distinct biomarker patterns: in children with ALL, PCT levels remained largely unchanged between diagnosis and FN, possibly reflecting an underlying baseline inflammatory state, whereas ProADM showed a significant rise during FN, suggesting greater specificity for infectious events. In contrast, in AML, both PCT and ProADM increased significantly during FN, indicating their potential utility as infection-related biomarkers in this subgroup. Conclusion. Both PCT and ProADM were significantly elevated in FN when patients with acute leukemia were analyzed as a whole. However, subgroup analysis revealed differing patterns: in ALL, only ProADM remained significantly associated with FN, whereas PCT showed no significant association. In contrast, in AML, both biomarkers were significantly elevated. These findings suggest that ProADM may have greater clinical utility in guiding the management of febrile episodes, particularly in ALL.
Background. In this study, we aimed to investigate peer bullying and its psychosocial consequences in children with celiac disease. We examined the relationship between adherence to diet and anxiety and depressive symptoms. Methods. The sample in this cross-sectional study consisted of 124 pediatric celiac patients on a gluten-free diet for one year or more. One hundred thirty-nine healthy children comparable in age and sex were enrolled as the control group. The Revised Olweus Bully Victim Questionnaire (OBVQ) was used to evaluate the peer victimization. The Revised Child Anxiety and Depression Scale and Strengths and Difficulties Questionnaire were used to assess children’s anxiety and depressive symptoms, and emotional and behavioral symptoms, respectively. Hierarchical logistic regression analysis was performed to identify independent predictors of dietary non-adherence. Results. The proportion of children classified as bullying victims based on the OBVQ was significantly higher in the celiac disease group than in the healthy controls. Children who did not comply with diet therapy experienced significantly higher rates of peer bullying than those who adhered to the diet (p=0.004). However, multivariate analysis indicated that depressive symptoms appeared to account for this relationship - while bullying initially predicted dietary non-adherence (odds ratio [OR]: 3.274, p=0.004), this effect became non-significant when depression was controlled (OR: 2.177, p=0.098), whereas depression remained a significant independent predictor (OR: 1.093, p=0.044). Significant positive correlations were observed between peer bullying and anxiety and depression symptom scores. Peer bullying also exhibited positive correlations with emotional and behavioral symptoms. Conclusions. The study findings show that children with celiac disease experience higher rates of peer bullying than their healthy peers. More importantly, our results suggest that the association between bullying and dietary adherence may be largely explained by co-occurring depressive symptoms. We therefore recommend that depressive symptom screening and treatment should be integrated into the management of celiac disease in children, particularly for those experiencing peer victimization.
Background. Respiratory colonization with Pseudomonas aeruginosa is associated with increased morbidity and mortality in cystic fibrosis (CF) patients. This study aims to assess the clinical characteristics and associated factors of CF infants under two years of age with P. aeruginosa colonization in Türkiye. Method. Of the 1637 patients registered in the Cystic Fibrosis Registry of Türkiye in 2019, 284 patients under two years of age were included in this retrospective cross-sectional study. Patients were classified into two groups: those with P. aeruginosa colonization (Group 1) and those without (Group 2). Cystic fibrosis transmembrane conductance regulator (CFTR) gene functions were categorized according to CFTR mutation functional class. Results. Twenty-three patients (8.1%) were categorized as Group 1 and 262 participants (91.9%) were classified as Group 2. Infants with P. aeruginosa colonization (Group 1) were more likely to have minimal CFTR function compared with those without colonization (87% vs. 39.8%, p = 0.017). In addition, both Staphylococcus aureus colonization (47.8% vs. 7.3%, p < 0.001) and methicillin-resistant S. aureus positivity (17.4% vs. 6.1%, p = 0.042) were observed more commonly in Group 1. There were no statistical differences between the groups in terms of age at diagnosis, gender, mean z-scores of weight and height, newborn screening test positivity, sweat chloride test results, and pancreatic insufficiency (p > 0.05). Univariate logistic regression analysis did not identify significant associated factors for P. aeruginosa colonization. Conclusions. Our findings suggest that minimal CFTR function and S. aureus colonization are associated with P. aeruginosa colonization in CF patients under two years of age. Further studies are needed to investigate associated factors for early P. aeruginosa colonization, eradication treatment effectiveness, and longitudinal outcomes of in CF patients under two years of age.
