Hacettepe University Institute of Child Health
This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
Author Correction to: “Predictive value of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 expression levels on the severity of retinopathy of prematurity.” [Turk J Pediatr 2025; 67: 798-807.]
Copyright © 2026 The Author(s) https://creativecommons.org/licenses/by/4.0
Response to “Clarifying the statistical reporting in the multivariate analysis of retinopathy of prematurity biomarkers”
In memory of Prof. Enver Hasanoğlu: Honoring a legacy
Rethinking gender differences in social media–related eating behaviors
Semiological seizure classification of epileptic seizures in children admitted to video-EEG monitoring unit
We aimed to determine seizure characteristics of pediatric patients with epilepsy, and evaluate if Semiological Seizure Classification (SSC) system is applicable in this cohort. We retrospectively studied 183 patients, aged between 3 months-18 years, admitted to the video-EEG monitoring unit (VEMU). Most patients suffered from intractable epilepsy with comorbidities, and had structural lesions. Seizures were classified based on ictal video-EEG recordings by using SSC system; 157 patients had only one seizure type, 26 had more than one seizure types. Overall 211 seizures and 373 semiologies were analyzed; 114 seizures (54%) had more than one semiological subtype. The most frequent semiology was motor seizures (78%), followed by dialeptic seizures (12%). The most common subtypes were simple motor seizures (49%); tonic seizures constituted (28.4%) of all semiologies. We conclude that SSC system is applicable for children with epilepsy admitted to VEMU; complementary EEG and imaging data are required for evaluation of patients with epilepsy.
Copyright © 2015 The Author(s) https://creativecommons.org/licenses/by/4.0
Post-transplant autoimmunity in a child: a lupus-like syndrome emerging in the context of chronic graft-versus-host disease
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.
Functional gastrointestinal disorders in Turkish infants: impact of feeding practices, sleep quality, and maternal depression
Background. Functional gastrointestinal disorders (FGIDs) significantly impact infant well- being and healthcare utilization, yet comprehensive data using updated Rome IV criteria in Turkish populations remains limited. Our objective was to determine the prevalence and characteristics of FGIDs in Turkish infants and examine associations with feeding patterns, sleep quality, and maternal depression. Methods. A cross-sectional study was conducted in a tertiary hospital between February and August 2020. A total of 459 infants aged 1–12 months were enrolled. FGIDs were diagnosed according to Rome IV criteria. Feeding characteristics, sleep quality assessed by the Brief Infant Sleep Questionnaire, and maternal depression measured using the Edinburgh Postnatal Depression Scale were recorded through face-to-face interviews. Comparisons were primarily performed between infants with and without FGIDs. Multivariable logistic regression adjusted for infant age was used to evaluate the association between feeding type and FGIDs. Results. At least one FGID was identified in 53.2% of infants (n=244). Co-occurrence of multiple FGIDs was observed in 92 infants. Infants with FGIDs were significantly younger than those without FGIDs with a median age of 3 months (interquartile range [IQR]: 2–5) vs 6 months (IQR: 3–9) (p<0.001). Poor sleep was markedly more prevalent among infants with FGIDs compared to those without (45.1% vs 22.3%, p<0.001). Mothers of infants with FGIDs had higher depression scores than mothers of infants without FGIDs (median: 7.0 [IQR: 4–11] vs 5.0 [3–10], p=0.030). In multivariable logistic regression analysis adjusted for infant age, the overall feeding model was not statistically significant (p=0.240); however, mixed breast milk and formula feeding was associated with increased FGID risk compared to exclusive breastfeeding (adjusted odds ratio: 2.16, 95% confidence interval: 1.17-3.98, p=0.014). Conclusions. FGIDs affect over half of Turkish infants and are associated with sleep disturbances and maternal depressive symptoms. Mixed breast-formula feeding independently increased FGID risk after age adjustment. Integrated care approaches addressing feeding practices, sleep quality, and maternal mental health are warranted.
Ocular manifestations in newly diagnosed acute leukemia: diagnostic performance of age, hemoglobin and platelets for retinal haemorrhages
Background. Ocular involvement in the diagnosis of leukemia is clinically important but has been reported variably. Our aim was to define its prevalence and spectrum and to identify hematologic predictors, specifically age, hemoglobin level (Hb), platelet count (PLT), mean platelet volume (MPV), and platelet mass index (PMI). Methods. This retrospective, single-center study evaluated all newly diagnosed leukemia patients between January 2023 and March 2025. All patients were examined by an ophthalmologist at the time of diagnosis and, if present, ocular involvement was identified. Results. Among 78 pediatric patients, ocular involvement was present in 17 of 78 patients (21.8%). The most common ocular manifestation was retinal hemorrhage (16.7%). Ocular involvement was more frequent in acute myeloid leukemia (AML) than in acute lymphoblastic leukemia (ALL) (46.7% vs. 15.9%, p= 0.016). Older age (for ocular involvement: median 13 years [6–15] vs. 5 years [3–11], p = 0.006; for retinal hemorrhage: median 14 years [10–15] vs. 5 years [3–11], p = 0.001) and lower hemoglobin (for ocular involvement: 6.68 ± 2.31 g/dL vs. 8.46 ± 2.47 g/dL, p = 0.01; for retinal hemorrhage: 6.33 ± 2.26 g/dL vs. 8.43 ± 2.46 g/dL, p= 0.006) were associated with a higher risk. In multivariate models, age and Hb were independent predictors of hemorrhage (age: odds ratio [OR] 1.29, 95% confidence interval [CI] 1.10–1.52 per year; Hb: OR 0.60, 95% CI 0.38–0.95 per g/dL). ROC analyses showed that age provided the best discrimination (area under the curve [AUC] 0.796; 95% CI 0.651–0.940; cut-off ≥10 years: 73% sensitivity, 70% specificity), followed by Hb (AUC 0.756; 95% CI 0.604–0.908; cut-off 6.95 g/dL: sensitivity 76%, specificity 76%), whereas PLT showed weaker discrimination (AUC 0.682; 95% CI 0.553–0.812; cut-off 48,000/mm³: sensitivity 62%, specificity 65%). Conclusion. Approximately one in five children had ocular involvement at diagnosis, most commonly retinal hemorrhage. Age and hemoglobin independently predicted retinal hemorrhage and provided useful discrimination. These data support a “hemoglobin-first” triage that prioritizes initial and follow-up ocular fundus testing in older children and those with an Hb ≲7 g/dL, with external validation of the proposed thresholds warranted.
Prevalence and determinants of suspected scoliosis in fifth-grade students: a population-based school screening study
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.
Factors for poor outcomes of neonatal bacterial meningitis: a retrospective multicenter study
Background. Neonatal bacterial meningitis remains a severe infectious disease associated with substantial mortality and long-term neurological sequelae. This study aimed to identify factors associated with poor outcomes and to determine independent prognostic predictors in neonates with bacterial meningitis. Methods. This retrospective multicenter cohort study included neonates diagnosed with bacterial meningitis. Clinical characteristics, laboratory findings, microbiological data, treatment responses, and outcomes were analyzed. Univariate and multivariable logistic regression analyses were performed to identify factors associated with poor outcomes. Results. A total of 85 neonates were included in the final analysis. 31 neonates (36.5%) experienced poor outcomes, including death or long-term neurological sequelae. In multivariable analysis, the presence of neurological signs at admission (odds ratio [OR]: 7.315; 95% confidence interval [CI]: 1.875–28.535) and the development of acute neurological complications during hospitalization (OR: 7.541; 95% CI: 2.045–27.807) were the only factors independently associated with poor outcomes. Several variables, including elevated cerebrospinal fluid protein levels, early administration of blood-brain barrier (BBB)-permeable antibiotics prior to lumbar puncture, and adequate response to initial antimicrobial therapy, were significantly associated with outcomes in univariate analyses but did not retain statistical significance after multivariable adjustment. Conclusions. Neurological involvement at presentation and acute neurological complications are key independent predictors of poor outcomes in neonatal bacterial meningitis. Other clinical and laboratory variables may reflect disease severity or early clinical course and may assist in early risk stratification.
Should we prioritize proton beam therapy before making a decision on orthotopic liver transplantation for unresectable hepatoblastoma?
Background. In unresectable hepatoblastoma (HB), particularly “pre-treatment extent of tumor” (PRETEXT) IV tumors or those with positive annotation factors, standard management consists of intensive chemotherapy followed by surgical resection or orthotopic liver transplantation (OLT). Radiotherapy has traditionally been avoided because of the liver’s radiosensitivity and the risk of radiation-induced liver disease. Proton beam therapy (PBT), owing to its dosimetric advantage and ability to spare uninvolved liver parenchyma, may represent a potential local control strategy in selected pediatric patients for whom curative surgery or OLT is not feasible. Case Presentation. We describe five pediatric patients with advanced hepatoblastoma treated with proton beam therapy at our institution between February 2022 and January 2024. The cohort included three girls and two boys, with a median age of 3.0 years (interquartile range [IQR], 1.6–4.0) and a median alpha-fetoprotein level of 435,453 ng/mL (IQR: 7,668–1,276,681) at diagnosis. All patients were initially considered inoperable because of extensive hepatic involvement, inadequate future liver remnant, or multifocal disease, and OLT was not feasible owing to donor limitations or medical comorbidities. All received neoadjuvant chemotherapy using SIOPEL-based regimens, achieving partial tumor response. Tumors ranged from 5 to 12 cm and involved central hepatic segments, the portal region, or both lobes. PBT was delivered at a total dose of 50 GyE in 10–25 fractions as definitive or consolidative therapy, followed by surgical resection in three patients. Two patients additionally received targeted therapy and immunotherapy. At last follow-up, four patients were alive with no evidence of disease, while one patient died from tumor progression. Conclusions. These cases suggest that proton beam therapy may serve as a feasible liver-sparing local treatment option for selected pediatric patients with unresectable or residual hepatoblastoma when surgery or OLT is not possible. While limited by availability and cost, PBT may facilitate multimodal therapy and preserve future treatment options.
Leber hereditary optic neuropathy (LHON) in a 6-year-old boy with a transient spinal cord lesion
Background. Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that predominantly manifests as bilateral, painless vision loss in young males. While traditionally associated with the optic nerves, a subset of patients exhibits additional neurological symptoms, referred to as LHON-plus syndrome. Involvement of the spinal cord is uncommon, particularly among the pediatric population, and may result in diagnostic challenges, potentially leading to confusion regarding acquired demyelinating diseases. Case Presentation. We report a 6-year-old boy with near-complete vision loss in the right eye and blurred vision in the left eye. Demyelinating diseases were suspected in the case of acute bilateral optic neuropathy. Cranial and orbital magnetic resonance imaging (MRI) showed no demyelinating lesions, whereas spinal MRI revealed a T2-hyperintense lesion at the C3–C6 levels. Due to unresponsiveness to conventional treatment for demyelinating diseases, genetic testing confirmed the homoplasmic m.11778G>A variant in NADH dehydrogenase subunit 4 (MT-ND4), establishing an LHON diagnosis. Spinal cord involvement supported the LHON-plus syndrome classification. Idebenone therapy was initiated, and follow-up was scheduled. During the 1.5-year follow-up, right eye visual loss persisted, while the left eye showed gradual vision decline. A second spinal MRI performed at 6 months showed complete resolution of the previous lesion without new lesions. Conclusion. Since optic neuropathy and spinal cord involvement typically indicate demyelinating diseases, these should be prioritized in initial evaluation due to their frequency and need for early immunomodulatory treatment. However, spinal cord involvement can occur in mitochondrial diseases, as demonstrated in this case. The presence of a transient and asymptomatic spinal cord lesion in this patient expands the recognized spectrum of central nervous system involvement in LHON. Therefore, LHON-plus syndrome should be considered when spinal cord involvement accompanies optic neuropathy after excluding other demyelinating diseases.
Hirschsprung’s disease and a rare mutation of the PIGO gene: Mabry syndrome
Background. Mabry syndrome is a very rare condition characterized by cognitive impairment, distinctive facial features, hypotonia, elevated alkaline phosphatase (ALP) levels in the blood (hyperphosphatasia), and recurrent generalized tonic-clonic seizures. It can be accompanied by gastrointestinal anomalies such as Hirschsprung’s disease (HD). In this study, we aim to present a case of hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) from Türkiye, featuring a novel homozygous p.Arg445Pro variant in the PIGO gene, occurring in association with HD. Case Presentation. A two-year-old male patient was referred to the pediatric neurology clinic with decreased responsiveness to the environment, lack of trunk control, and failure to respond to his name. ALP value was 613 IU/L. No pathology was detected in metabolic tests, vitamin D levels, or cranial magnetic resonance imaging, and electroencephalography (EEG). At 11 months of age, he had a generalized tonic-clonic seizure without fever. Since no abnormalities were detected in chromosome analysis and array analysis, whole exome sequencing (WES) was performed. A homozygous mutation was detected in the PIGO gene (NM_032634.4): c.1334G>C (p.Arg445Pro). Sanger analysis revealed heterozygous carrier status in both parents. The patient had constipation that was unresponsive to medical treatment since birth. Physical examination revealed abdominal distension. Rectal examination revealed an explosive discharge of gas and stool. A rectal biopsy was performed. The pathology result was ganglion-negative, and the patient was diagnosed with HD. After definitive surgery, spontaneous defecation has been achieved during follow-up, except for rare episodes of enterocolitis. Conclusions. It should be remembered that Mabry syndrome can be accompanied by gastrointestinal anomalies, primarily HD. This case highlights the increased phenotypic variability associated with PIGO mutations and demonstrates the importance of genetic assessment in atypical neurodevelopmental conditions.
Impact of rheumatologic diseases on pediatric inflammatory bowel disease
Background. The coexistence of rheumatologic diseases (RD) and inflammatory bowel disease (IBD) in children remains underexplored. This study aimed to assess the frequency of RD and its clinical impact in pediatric IBD patients. Methods. This retrospective cohort study included pediatric IBD patients followed at the Department of Pediatric Gastroenterology, Hepatology and Nutrition at Hacettepe University, Ankara, Türkiye between November 2008 and December 2020. Demographic characteristics, disease activity scores, inflammatory markers, and treatment modalities were compared between patients with and without concomitant RD; an additional analysis was performed in the familial Mediterranean fever (FMF) subgroup. Results. A total of 88 patients (35 females, 53 males; median age 14.6 years) were analyzed. RD was identified in 28 patients (31.8%), with FMF being the most frequent (19/28, 67.9%; overall 21.6%). Although patients with RD had lower disease activity at diagnosis (p = 0.010), they required more frequent biologic therapy during follow-up (35.7% vs. 16.7%, p = 0.047). In the FMF subgroup, disease activity scores were significantly lower at diagnosis and higher at the last follow-up compared with patients without RD. There were no significant differences in inflammatory markers between the groups at diagnosis and last follow-up. Conclusions. RD, particularly FMF, is commonly observed in pediatric IBD, with a prevalence of 31.8% for RD and 21.6% for FMF. The presence of RD is associated with an increased need for biologic therapy despite lower initial disease activity. Children with IBD should be systematically evaluated for RD, especially in regions with high MEFV mutation prevalence, to support more personalized management strategies.
Full-text publication outcomes of oral abstracts presented at the Turkish National Pediatric Congresses
Background. Scientific congresses are critical platforms for knowledge dissemination and collaboration. The scientific value of presented abstracts is best demonstrated through their subsequent publication as full-text articles in peer-reviewed journals. This study aimed to evaluate the publication rate and characteristics of oral abstracts presented at the Turkish National Pediatric Congresses (TNPC) between 2019 and 2023. Methods. Abstract books of five consecutive congresses were reviewed. The publication status of each abstract was determined through systematic searches in Web of Science, PubMed, Scopus, Google Scholar and the TR Index utilizing the title, keywords from the title and author names. Parameters such as study design, collaboration type, index status and the impact factor of the journal, the year it was published, and time to publication were analyzed. Additionally, the subspecialty of each abstract and the publication rate for each subspecialty were evaluated. Results. Among 268 oral abstracts, 111 (41.8%) were published as full-text articles. Of these, 66 (59.5%) were published in journals indexed in the Science Citation Index Expanded. Approximately one-third (32.4%) of the articles were published in Q1 or Q2 ranked journals. The average impact factor was 1.72 ± 1.26 and the mean time to publication was 1.6 ± 1.17 years. The most common study design published was retrospective (51.3%), and the majority were single-center studies (88.3%). The highest publication rates were observed in the fields of rheumatology, adolescent medicine, and infectious diseases. Conclusion. A significant portion of the papers presented at TNPC congresses are published in peer-reviewed scientific journals. The fact that more than one-third of the published studies appear in high-impact journals demonstrates the academic quality of the papers presented at the congresses and the effectiveness of the selective evaluation process. The findings provide valuable contributions to the monitoring and development of academic productivity in the field of pediatrics in Türkiye.
Predictive value of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 expression levels on the severity of retinopathy of prematurity
Background. To investigate the diagnostic and pathological staging value of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 levels in retinopathy of prematurity (ROP). Methods. A total of 70 infants with ROP (140 eyes) treated at our hospital from October 2018 to October 2023 were enrolled as the ROP group, while 70 healthy preterm infants (140 eyes) of the same gestational age without ROP were selected as the control group. The relative expression levels of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 were detected by quantitative real-time PCR. Logistic regression analysis was used to identify factors influencing ROP occurrence. The diagnostic efficacy of the three circular RNAs (circRNAs) was evaluated using receiver operating characteristic (ROC) curve analysis. Results. The relative expression levels of hsa_circ_0061346 in serum were significantly higher in the ROP group than in the control group (6.27 ± 3.60 vs. 0.72 ± 0.31, P < 0.05), whereas the levels of hsa_circ_0000095 (1.98 ± 1.38 vs. 3.90 ± 1.75) and hsa_circ_0068606 (1.18 ± 0.51 vs. 7.71 ± 4.45) were significantly lower (all p < 0.05). Multivariate logistic regression showed that abnormal expression of these circRNAs was an independent risk factor for ROP. Notably, the combined diagnostic performance of the three circRNAs yielded an area under the ROC curve of 0.983, with a sensitivity of 100% and a specificity of 97.14%. Conclusion. The combined detection of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 may provide a novel approach for the early diagnosis and severity assessment of ROP.
Copyright © 2025 The Author(s) https://creativecommons.org/licenses/by/4.0
Spontaneous renal pelvis perforation in a single kidney child
Background. Spontaneous renal pelvis perforation is a rare but serious condition, often associated with urinary obstruction, infection, or increased intrapelvic pressure. Here, we present a pediatric patient with a solitary kidney who developed this rare condition. Case presentation. We report the case of a 14-year-old girl with a solitary kidney who presented with abdominal pain, vomiting, and anuria. Laboratory findings revealed acute kidney injury, requiring emergent hemodialysis. Imaging studies demonstrated a spontaneous perforation in the anteromedial renal pelvis. The patient was initially managed with antibiotics and a double-J (DJ) ureteral stent. However, persistent fever and worsening retroperitoneal fluid collection necessitated percutaneous abscess drainage. Despite initial clinical improvement, she later developed recurrent urine leakage due to DJ stent occlusion, which required percutaneous nephrostomy placement. At the three-month follow-up, spontaneous resolution of the perforation was confirmed, and the patient was diagnosed with stage 4 chronic kidney disease. Conclusions. Spontaneous renal pelvis perforation remains a rare entity in the pediatric population, with limited cases documented in the literature. This case emphasizes the importance of early recognition, timely imaging, and appropriate urinary drainage to prevent long-term renal impairment. In pediatric patients with a solitary kidney, close monitoring and a multidisciplinary approach are crucial to optimizing outcomes.
Perspectives on “Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia”
Response to “Perspectives on ‘Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia’”
Perianal and gluteal parasitic abscess of Enterobius vermicularis: case report and review of the literature
Background. Enterobius vermicularis is a nematode that predominantly affects the pediatric population, particularly in families with school-aged children. While it typically causes intestinal symptoms, rare cases of extraintestinal involvement have been reported, including female genital tract involvement and complications such as appendicitis or enterocolitis. Perianal parasitic abscesses are also rare, with only a few cases reported in the literature. Case Presentation. A 17-year-old female presented with abdominal pain during menstruation. Pelvic ultrasound revealed a septated cystic lesion located posterior to the uterus. Magnetic resonance imaging (MRI) demonstrated a perianal lesion with thick material, appearing iso- to hyperintense on both T1- and T2-weighted images. The lesion extended into the left gluteal muscles and showed peripheral contrast enhancement and diffusion restriction. Notably, there were no surrounding inflammatory changes, making an abscess diagnosis less likely. Surgical drainage revealed pus, and cytological analysis identified abundant parasitic oocytes consistent with E. vermicularis. The patient was treated with surgical drainage followed by pyrantel pamoate, resulting in near-complete resolution of the lesion at the one-month follow-up MRI. A literature review was also conducted to identify previously reported cases of parasitic abscesses and to explore the differential diagnoses of perianal cystic lesions. Conclusions. Perianal abscesses due to parasitic infections are rare, particularly those caused solely by E. vermicularis. Given the high prevalence in childhood infestations, parasitic abscesses should be considered in the differential diagnosis of perianal collections in pediatric patients, especially in the absence of peripheral inflammatory signs.
Pediatric cervicofacial actinomycosis presenting with mandibular osteomyelitis: a diagnostic and therapeutic challenge and literature review
Background. Actinomycotic osteomyelitis is a rare, chronic infection caused by Actinomyces species, anaerobic bacteria normally found in the oral flora. Mandibular involvement is uncommon and may mimic malignancies, complicating diagnosis. Case Presentation. A 15-year-old previously healthy male presented with painful neck swelling and trismus. Examination revealed a firm mass at the angle of the mandible. Imaging suggested osteomyelitis but raised concern for malignancy. Surgical drainage was performed, and histopathology confirmed actinomycotic infection. The patient initially received empirical intravenous vancomycin, cefotaxime, and metronidazole. Due to persistent fever and elevated inflammatory markers, the regimen was switched to teicoplanin plus piperacillin/tazobactam. Therapy was subsequently escalated to meropenem due to recurrent fever and based on magnetic resonance imaging findings suggestive of osteomyelitis, then vancomycin was replaced with teicoplanin because of vancomycin-associated nephrotoxicity. Following clinical improvement, the patient was discharged on oral amoxicillin/clavulanate to complete a total of six weeks of therapy. Discussion. Pediatric mandibular actinomycotic osteomyelitis is extremely rare. Its indolent course often mimics tumors or granulomatous disease. In this case, delayed diagnosis and nonspecific imaging findings led to initial misinterpretation. Surgical intervention played a key role in diagnosis and treatment. Early recognition and combined medical-surgical management are crucial to avoid complications. This case highlights the importance of considering infectious causes in mandibular masses and underscores the diagnostic challenges associated with them.
Clinical and economic burden of preseptal cellulitis in children: a 6-year review
Background. Children diagnosed with preseptal cellulitis frequently require hospitalization, leading to both clinical management challenges and substantial healthcare-related costs. The condition often necessitates intravenous antibiotic therapy, radiological imaging, laboratory tests, consultations, and inpatient care, which collectively contribute to the overall economic burden. However, data on the clinical characteristics and cost distribution among pediatric patients remain limited. This study aimed to evaluate both the clinical and economic burden of preseptal cellulitis in hospitalized children and to identify the clinical factors influencing healthcare costs. Methods. This retrospective study included children aged 1 month to 18 years who were hospitalized with a diagnosis of preseptal cellulitis between January 2019 and December 2024. Patients were grouped according to age and presence of predisposing factors. Length of stay, total hospital costs, and cost components were analyzed based on clinical characteristics. Results. A total of 166 patients were included (mean age: 70.1 ± 46.9 months; 62% male). The most common findings were periorbital swelling (96.4%) and erythema (75.3%). Median length of stay was 5 days, with no significant differences by age, sex, or predisposing factors (p>0.05). However, a strong positive correlation was found between length of stay and total cost (rho=0.775, p<0.001). The total hospital expenditure was 25,412.95 USD, with antibiotics accounting for the largest share (48.3%). Sinusitis and odontogenic infections were significantly associated with higher costs (p=0.007 and p=0.030). In multivariable analysis, length of stay, age, and odontogenic infection emerged as independent determinants of total cost, with costs increasing by approximately 15% per additional hospital day, 0.2% per month of age, and 25% in the presence of odontogenic infection. Conclusion. Developing standardized treatment protocols and promoting rational antibiotic use are critical for optimizing healthcare resource utilization and preventing antibiotic resistance.
Dose-specific childhood vaccine refusal in Balıkesir, Türkiye (2024): a population-based surveillance analysis
Background. Vaccine hesitancy has intensified since COVID-19. In Türkiye, a performance-based family medicine system provides free vaccines. Before May 2024, physicians could remove refusals from metrics tied to pay deductions, obscuring true rates. A new policy mandating documentation created a natural experiment. We used population-based data to quantify these previously hidden dose-specific refusal rates across the childhood schedule. Methods. We conducted a population-based ecological analysis of monthly dose-specific refusals among children aged 0–59 months in Balıkesir Province, in 2024. Refusals were extracted from Performance Exception Forms. Rates were calculated per 1,000 target children (Wilson 95% confidence intervals [CI]s), using populations derived from Turkish Statistical Institute counts. To quantify the policy’s impact, we fitted an interrupted time-series regression with a fixed breakpoint at May 2024. This model estimated the baseline level and slope (January-April) and compared them to the immediate level shift and new monthly slope post-reform (May–December). Results. Of 3,584 missed-dose exceptions, 3,002 (83.8%) were refusals. The aggregate refusal rate was 3.9 per 1,000 (January-April) versus 21.6 per 1,000 (May–December), while the rate of on-schedule vaccinations decreased from 99.3% to 97.5%. Segmented regression indicated a baseline of 2.6 per 1,000 and a post-policy level increase of 13.7 per 1,000 (p=0.005); pre- and post-policy monthly slopes were not significant. Refusals concentrated in booster and later-scheduled doses (18–48 months), whereas primary-series doses showed lower, comparatively stable rates. Notably, refusal for the second measles-mumps-rubella dose (MMR-II, 48 months) rose toward year-end, reaching 47.4 per 1,000 in December (95% CI, 35.1–63.6). Conclusions. Mandatory documentation exposed substantial under-ascertainment of parental refusal in performance-based records. Refusal is disproportionately clustered at booster and later-childhood visits, with MMR-II approaching herd-immunity margins. Programmatically, pediatric booster encounters are key leverage points for targeted counseling, and sustained, transparent surveillance as enabled by the new policy, is essential for early signal detection and response.
Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye
Background. Cystinuria is a rare autosomal recessive disorder leading to recurrent cystine stone formation, often necessitating repeated surgical interventions. In Türkiye, tiopronin—a proven medical therapy—has become inaccessible since 2019, raising concerns about its economic and clinical consequences. This study aimed to compare the annual hospital costs of surgical management with the theoretical cost of tiopronin therapy in pediatric cystinuria patients. Methods. This single-center, retrospective study included 10 consecutive pediatric patients (median age: 12 years; range: 3-17 years) with genetically or biochemically confirmed cystinuria who underwent surgery for cystine stones in 2023. The annual cost of surgical management was calculated by summing all direct medical costs (operating room, anesthesia, devices, hospitalization, and related diagnostics) obtained from the hospital billing database. The theoretical annual cost of tiopronin therapy was calculated based on the last accessible market price of the drug in Türkiye, converted to Turkish Lira at the 2023 average exchange rate, and adjusted per patient using a standard dosing regimen of 15 mg/kg/day. Costs were compared using the Mann-Whitney U test. Results. The median annual surgical cost per patient was 49,936 TL (range: 14,791–84,576 TL), compared to a theoretical tiopronin cost of 27,923 TL (range: 9,307–27,925 TL). Surgical management was significantly more expensive than tiopronin therapy (p=0.001) in 9 of 10 cases. Six patients had a history of tiopronin use, and five of them experienced a surgery-free interval during medication (median duration: 3 years; range: 2-6 years). Preliminary follow-up data for 2024 revealed that 70% of patients required further surgical interventions (median: 2 surgeries per patient), demonstrating the persistent and recurrent nature of the disease when managed solely with surgery. Conclusion. Surgical treatment of cystinuria poses a substantially higher economic burden compared to tiopronin therapy. Our findings support the reintroduction of tiopronin into the Turkish healthcare system, particularly for pediatric patients with frequent stone recurrence.
Beyond contamination rates: a broader lens on diagnosing neonatal sepsis
Chronic nonbacterial osteomyelitis: current perspectives in pediatric practice
Chronic nonbacterial osteomyelitis (CNO) is a rare, autoinflammatory bone disorder that predominantly affects children and adolescents. The disease covers a broad clinical spectrum ranging from isolated bone lesions to its severe multifocal form, chronic recurrent multifocal osteomyelitis (CRMO). Although its exact pathogenesis remains elusive, recent advances highlight a pivotal role of innate immune dysregulation, particularly involving imbalanced cytokine signaling. These abnormalities drive sterile bone inflammation and osteoclast activation, leading to bone pain and lytic or sclerotic lesions. CNO remains a diagnosis of exclusion owing to the lack of specific biomarkers or standardized diagnostic criteria; however, the recently developed European Alliance of Associations for Rheumatology/American College of Rheumatology (EULAR/ACR) classification framework represents an important step toward uniformity in research and clinical trials. Whole-body magnetic resonance imaging has emerged as the imaging modality of choice for diagnosis and monitoring, while biopsy is reserved for atypical or unifocal cases. Management is empirical and guided by disease severity, with nonsteroidal anti-inflammatory drugs as first-line therapy, followed by corticosteroids, disease-modifying antirheumatic drugs, bisphosphonates, and biologic agents such as tumor necrosis factor (TNF) inhibitors in refractory cases. New insights into the interleukin (IL)-1, IL-6, and IL-17/23 pathways have opened avenues for targeted therapies, including Janus kinase (JAK) inhibitors, in difficult-to-treat patients. Despite earlier perceptions of a benign course, long-term follow-up indicates a risk of relapses and structural complications, underscoring the need for early recognition and multidisciplinary management. Ongoing international collaborations are expected to refine diagnostic precision and optimize treatment strategies to improve outcomes in pediatric CNO.
Decoding joint complaints in children: a diagnostic approach to rheumatic and non-rheumatic disorders
Introduction. Musculoskeletal (MSK) complaints are common in children, with many cases ranging from benign to serious conditions. While these patients are often referred to pediatric rheumatologists, only about half are diagnosed with rheumatic diseases. The objective of this study is to identify key clues that assist in the differential diagnosis of patients presenting with joint complaints at pediatric rheumatology outpatient clinic. Material Methods. In this one-year study, patients with joint pain were assessed using a standardized form. Demographic, clinical, and examination data were collected and anonymized. Initial assessments were done by pediatric rheumatology fellows or residents, with final diagnoses confirmed by a pediatric rheumatologist. Results. This study included 414 patients aged 0-18 years with joint pain, of whom 273 were diagnosed with rheumatologic conditions and 141 with non-rheumatologic conditions. Patients with rheumatologic conditions had significantly higher laboratory values, including leukocyte counts, neutrophils, platelets, C-reactive protein, and erythrocyte sedimentation rate, all with p < 0.001. Multivariable analysis revealed that arthritis (adjusted odds ratio [aOR] 2.63, 95% confidence interval [CI] 1.09-6.33) and rash (aOR 4.37, 95% CI 1.38-13.86) predicted rheumatic disease in acute presentations, while in chronic complaints arthritis (aOR 2.61, 95% CI 1.30-5.21), morning stiffness (aOR 3.47, 95% CI 1.69-7.11), migratory pain (aOR 3.45, 95% CI 1.01-11.80), and fever (aOR 12.89, 95% CI 4.41-37.68) were independent predictors, whereas myalgia was associated with non-rheumatic conditions (aOR 0.35, 95% CI 0.15-0.83). Conclusion. In conclusion, this study emphasized the importance of clinical clues in diagnosing rheumatic diseases in children with joint pain. An accurate diagnosis depends on a thorough history and physical examination. Improving the differential diagnosis of joint pain is essential to reduce unnecessary referrals and enhance the efficiency of healthcare services.
The relationship between early feeding skills and general movements of preterm infants in the neonatal intensive care unit
Background. Early feeding skills and general movements (GMs) are negatively affected by hypotonia due to prematurity. Interventions for feeding skills can be guided by understanding the relationship between feeding skills and GMs. In the light of this, the study focused on understanding the relationship between early feeding skills and preterm infants’ GMs in the neonatal intensive care unit (NICU). Methods. Participants in this cross-sectional study were forty infants with a postmenstrual age of 34–37 weeks who were hospitalized in the NICU at Abant İzzet Baysal University Training and Research Hospital. The data consisted of demographic characteristics (birth weight, gestational age, date of birth, age, and sex), feeding skills, assessed with the Early Feeding Skills Assessment Tool, and GMs, assessed with the General Movement Assessment. Results. A strong correlation was found between the Oral-Motor Function subscale of the Early Feeding Skills Assessment Tool and the Upper Limbs subscale of the General Movements Motor Optimality Score (rho=0.74, p=0.001). Among the demographic characteristics, only maternal age was associated with feeding skills. A weak correlation was determined between the Physiologic Stability subscale of the Early Feeding Skills Assessment Tool and maternal age (rho=0.34 p=0.03). Conclusions. This study reveals the relationship between feeding skills and general movement of preterm infants at NICU. GMs of upper extremity were found to positively affect feeding skills. This process may be accelerated by interventions to improve the GMs of upper extremity during the transition to oral feeding.
Impact of a structured influenza seminar on pediatric residents’ knowledge and attitudes: a pre-post single-group study
Background. Influenza remains a primary global health concern associated with significant morbidity and mortality, especially among high-risk pediatric populations. Pediatric residents are involved in the diagnosis, treatment, and prevention of influenza during their training; however, gaps in influenza-related knowledge have been reported. The aim of this study was to evaluate the impact of a structured educational seminar on improving pediatric residents’ knowledge of influenza symptoms, complications, treatment, and vaccination practices. Methods. This prospective, single-center, pre-post study included pediatric residents at a tertiary hospital. Participants completed the same structured 25-item questionnaire immediately before and one month after a 60-minute educational seminar on influenza. The questionnaire assessed knowledge of clinical symptoms, transmission routes, antiviral treatment, chemoprophylaxis, and vaccination. Item-level correct response rates and the total knowledge score (range 0-25) were compared between pre- and post-seminar assessments. Results. Sixty-two residents participated. After the seminar, correct response rates increased for several clinical features, including sudden onset of illness (p = 0.006), rapid progressive disease (p = 0.003), diarrhea (p < 0.001), abdominal pain (p < 0.001), febrile seizure (p = 0.003), and complex febrile seizure (p < 0.001). Knowledge regarding transmission routes and oseltamivir-related adverse effects improved significantly (p < 0.05), while chemoprophylaxis-related items showed mixed changes in correct response rates. The total knowledge score increased from 14 (interquartile range [IQR]: 12-16.25) to 18 (IQR: 15-21) after the seminar (p < 0.001). Conclusion. A single, structured educational seminar was associated with improvements in several domains of influenza-related knowledge among pediatric residents. The observed declines in selected chemoprophylaxis items indicate that some topics may require repeated or reinforced educational approaches.