The Turkish journal of pediatrics最新文献

Background: Musculoskeletal manifestations of graft-versus-host disease (GVHD) are rare but often result in mobility impairments, reducing the patient's quality of life. Typically, such diagnoses are made based on clinical findings without the need for performing a muscle biopsy.

Case presentation: A 12-year-old boy diagnosed with acute myeloblastic leukemia (M2 subtype) underwent allogeneic hematopoietic stem cell transplantation (HSCT) due to a molecular relapse before his last chemotherapy cycle. Cyclosporine prophylaxis was stopped three months after transplantation, but the patient developed ocular, cutaneous, and oral chronic GVHD at four, five, and seven months after transplantation, respectively, for which intermittent steroid treatment and mycophenolate mofetil were given. All signs of GVHD resolved by one year after transplant, and immunosuppressive treatment was stopped; however, three months later, he experienced muscular weakness in bilateral upper and lower extremities. Subsequently, immunosuppressive treatment was restarted following a muscle biopsy.

Conclusion: Diagnosing musculoskeletal GVHD is challenging due to the lack of reliable parameters for histopathological diagnosis, and initial clinical findings can be mistaken for steroid-induced myopathy or inflammatory dermatomyopathies. We applied methylprednisolone, mycophenolate mofetil and extracorporeal photopheresis for treatment, and the clinical findings completely improved with these treatments.

Background: Evidence suggests a role for oxytocin in language development and cognitive functions in humans. However, there is a lack of research investigating the role of oxytocin in childhood-onset fluency disorder (stuttering). The aim of this study is to compare blood oxytocin levels between children diagnosed with stuttering and healthy controls.

Methods: Nineteen male children diagnosed with stuttering, aged between 6 and 11 years, and 27 typically fluent male children as a control group were included. All participants underwent psychiatric screening using the semi-structured interview The Kiddie Schedule for Affective Disorders and Schizophrenia School-Age Children-Present and Lifetime Version, and an ear, nose, throat examination. Serum oxytocin levels were determined using enzyme-linked immunosorbent assay.

Results: The median (Q1-Q3) blood oxytocin levels in the case group were 113.4 (90.19-136.3) pg/mL, while in the control group were 136.7 (105.4-203.7) pg/mL. A statistically significant lower level of oxytocin was observed in the case group compared to the control group (U=162, p=0.03).

Conclusions: We speculate a potential role of oxytocin in the etiology of developmental stuttering under the umbrella of neurodevelopmental disorders. The investigation of oxytocin, which plays a role in socialization and speech, in future studies on speech fluency disorders is intriguing in terms of its implications for clinical applications, including treatment.

Background: Although flexible bronchoscopy (FB) is frequently performed in children, there is limited information on the potential complications and risk factors. In this study we aimed to evaluate the complications associated with pediatric FB and identify predictors of these complications.

Methods: Patients aged 0-18 years who underwent FB at the Akdeniz University Pediatric Pulmonology Department between February 1, 2015 and June 30, 2023 were included in the study. We retrospectively recorded the patients' demographic data, known diseases, pulmonary function test results, chest computed tomography findings, bronchoscopy time/indication/route/findings, vital signs, minor and major complications associated with the FB procedure, post-procedure intensive care unit admission, procedure and sedation durations, and American Society of Anesthesiologists physical status (ASA-PS) classification, Mallampati score and anticipated need for post-procedural intensive care as evaluated in the pre-procedure anesthesiology consultation.

Results: The study included a total of 292 patients; 157 (53.8%) girls and 135 boys, with a mean age of 9.9±4.8 years. There were a total of 55 FB-related complications (18.8%), 19 major (6.5%) and 36 minor (12.3%), and 10 patients (3.4%) required intensive care unit admission due to the procedure. The most common complication was hypoxia (11.3%). Patient age, height, anticipated need for intensive care, and baseline oxygen saturation values were significant predictors of the development of bronchoscopy-related complications, while patient age, baseline diastolic blood pressure, anticipated need for intensive care, and route of insertion were predictors of major complications after bronchoscopy. ASA-PS score, pulmonary function test values, and procedure/sedation durations had no effect on the development of complications.

Conclusion: Although FB is a fairly safe diagnostic method in children, extra caution regarding possible complications is warranted in young children, when using the nasal route of insertion, or if the patient is evaluated as high-risk in the pre-procedure assessment performed by the anesthesiologist.

Background: This cross-sectional study aimed to evaluate the dietary adequacy and growth patterns of children considered to have a poor appetite by their mothers and to compare these findings with established reference values.

Methods: A total of 200 volunteer mothers who applied because they thought their children (2-9 years) had poor appetites participated in the study. Maternal reports were obtained through a comprehensive questionnaire, encompassing socio-demographic characteristics, dietary habits, the Children's Eating Behavior Questionnaire (CEBQ), anthropometric measurements, and three-day food consumption records. Children's anthropometric measurements were evaluated according to z-scores based on the World Health Organization standards, and daily energy and nutrient intake amounts were determined from food consumption records. Dietary adequacy was calculated according to dietary reference intakes (DRI).

Results: It was found that 90.5% of the children had normal height, and 6.0% were stunted/severely stunted. According to body mass index (BMI)-for-age z-scores (BAZ), 92.5% of the children had normal weight. All mothers perceived that their children had poor appetite, and 55% also believed their children to be underweight, whereas objective measurements indicated that 90% of these children had normal weight. The scores of sub-dimensions of "Food Responsiveness" and "Emotional Overeating" of CEBQ for girls (12.6±2.7 and 9.6±2.3, respectively) were significantly higher than those for boys (11.2±2.8 and 8.7±2.4, respectively) (p.

Background: Autism spectrum disorder (ASD) screening and follow-up programs are implemented in all provinces in Türkiye as part of the National Action Plan for Individuals with ASD. Primary health care professionals are trained regarding ASD by child and adolescent psychiatrists, aiming to ensure that risky children are diagnosed and referred earlier and diagnosed in early childhood. The aim of this study is to objectively evaluate the effectiveness of an ASD training program provided to primary healthcare professionals.

Methods: Three hundred and three individuals consisting of family physicians and family healthcare workers (FHW) who participated in the ASD training program were recruited in the study in the Muğla province of Türkiye. The Knowledge About Childhood Autism Among Health Workers Questionnaire (KCAHW) was completed by all participants before and after the training.

Results: The mean total KCAHW scores pre- and post-training were 13.12±3.14 and 16.48±2.02, respectively. There was a statistically significant difference in Domains 1, 2, 3, and 4 and the total scores pre- and post-training (p.

Background: Non-Hodgkin lymphoma of the larynx in children is a rare condition. Diagnosis is difficult as its symptoms are usually attributed to respiratory tract infections and pubertal voice changes.

Case presentations: We report two children diagnosed with laryngeal B-cell lymphoma based on imaging and histopathological findings. We also review other pediatric cases of laryngeal lymphoma documented in the literature, detailing tumor locations, lymphoma types, stages, etiological factors, and treatment regimens of these patients.

Conclusion: Diagnosis of laryngeal lymphoma is challenging. Although certain imaging features can be suggestive of the disease, a definitive diagnosis requires histopathological examination. Surgery is not required for the treatment, and chemotherapy is the main treatment approach. Early diagnosis is important.

Background: Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are rare pediatric central nervous system neoplasms with poorly defined treatment strategies and prognostic factors. Although chemotherapy (CHT) is frequently used, the role of radiotherapy (RT), particularly craniospinal irradiation (CSI), remains unclear.

Case presentations: We present a case series of three pediatric patients diagnosed with DLGNTs and treated with CSI at an initial dose of 36 Gy, with an additional boost to 54 Gy. Patients were evaluated for early radiological response post-CSI and its potential prognostic implications, alongside their clinical and histological features. Two patients demonstrated significant radiological regression after 36 Gy of CSI, with continued improvement 1.5 months post-treatment. These patients remained stable for 88 and 27 months, respectively, without further disease progression. The third patient exhibited disease progression despite CSI and concurrent temozolomide, ultimately succumbing to the disease within 10 months. Notably, this patient had a Ki-67/MIB-1 index of 70%, while surviving patients had lower proliferation indices.

Conclusions: Our findings suggest that an early favorable response to 36 Gy of CSI may serve as a prognostic indicator in DLGNTs. This study highlights the potential value of CSI in managing these tumors and underscores the need for further research to establish standardized treatment approaches.

Background: The α-actinin-4 (ACTN4) gene encodes an actin-binding protein, which plays a crucial role in maintaining the structure and function of podocytes. Previous studies have confirmed that ACTN4 mutations can lead to focal segmental glomerulosclerosis-1 (FSGS1), a rare disease primarily manifesting in adolescence or adulthood, characterized by mild to moderate proteinuria, with some cases progressing slowly to end-stage renal disease.

Case presentation: We report a 12.5-year-old boy who presented with non-nephrotic range proteinuria, hyperuricemia, markedly reduced bilateral kidney volume, and stage 3 chronic kidney disease (CKD). An ophthalmic examination revealed optic disc dysplasia in the right eye. The results of whole-exome sequencing revealed a de novo variant in the ACTN4, a previously unreported variant.

Conclusions: We reported a novel sporadic ACTN4 variant and reviewed previously reported cases. Through analysis of the genotypes and clinical phenotypes of reported cases, we found that ACTN4 variants may not always present as FSGS1, and there was significant phenotypic heterogeneity among individuals. Notably, mutations affecting residues 260-265 are associated with collapsing glomerulopathy and rapid progression to end-stage kidney disease in prior studies, whereas the p.Ala278del variant in our case, located outside this region, exhibited stable CKD3. This suggests domain-specific genotype-phenotype correlations. However, this association requires further validation through additional cases and experiments. Our findings may have significant implications for clinical diagnosis, prognosis assessment, and scientific research on kidney diseases related to ACTN4 variants.

Backround: Leukemia is the most common childhood malignancy and often presents with nonspecific symptoms, which may lead to delays in diagnosis. Early recognition of clinical signs and laboratory abnormalities is essential to ensure timely referral and improve outcomes. This study assesses the clinical and laboratory characteristics of pediatric patients with acute and relapsed leukemia, points out key considerations during diagnosis, and investigates potential factors contributing to delayed diagnosis.

Methods: A retrospective analysis was performed on pediatric patients diagnosed with leukemia at a tertiary care hospital between the years 1986 and 2020. Early diagnosis was defined as a diagnosis made within 20 days of symptom onset.

Results: Among the 378 patients, fatigue was the most frequently reported symptom, followed by fever and bone or joint pain. Common laboratory abnormalities included anemia (83%), thrombocytopenia (80%), and leukocytosis (46%). Bone or joint pain (p< 0.001), mucosal bleeding (p=0.013), and pallor (p=0.005) were significantly associated with late diagnosis. In contrast, lymphadenopathy (p=0.014) and bone tenderness (p=0.024) were linked to earlier recognition. Among laboratory findings, low hemoglobin levels were associated with early diagnosis (p=0.023) and elevated platelet count was also significantly related to delayed diagnosis (p=0.028). In relapsed leukemia cases, abnormal blood count findings were common, and neurological symptoms were observed more frequently compared to acute leukemia patients.

Conclusions: Fatigue, fever, and bone or joint pain were identified as the most common presenting symptoms in acute leukemia cases, while hepatomegaly, splenomegaly, and lymphadenopathy were the predominant physical findings. Bone or joint pain, mucosal bleeding, and pallor were associated with late diagnosis, whereas lymphadenopathy and bone tenderness appeared to facilitate earlier recognition.