The Turkish journal of pediatrics最新文献

Background: Food allergy is a public health concern affecting quality of life and increasing in prevalence. Numerous studies suggest that the rapid increase in the prevalence of allergic diseases may be linked to epigenetic mechanisms, particularly microRNA (miRNA), long non-coding RNA (lncRNA). The aim of this study was to investigate the effects of oxidative stress and selected non-coding RNAs on the development and pathogenesis of food allergy.

Methods: A total of 26 children with food allergy and 30 healthy children were enrolled in this study. Real-time polymerase chain reaction (RT-PCR) was performed to detect the expressions of serum miR-19a, miR-98 and lncRNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) in all the participants. Serum levels of interleukin-4 (IL-4), IL-10, IL-13 and transforming growth factor beta (TGF-β), along with levels of oxidative stress markers 8-isoprostane and cysteinyl leukotrienes, were measured by enzyme-linked immunosorbent assay.

Results: Our study found that the expression of miR-98 was significantly lower in children with food allergies compared to healthy controls (p < 0.05), whereas there was no significant difference in the expression levels of miR-19a between the two groups (p > 0.05). There was no difference in gene expression levels (p > 0.05) of lncRNA MALAT1 between children with food allergies and healthy children. TGF-β levels of healthy children were found to be significantly higher than those of children with food allergies (p < 0.05). There was no statistical difference in cysteinyl leukotriene levels between patients and controls (p = 0.804). However, 8-isoprostane levels were significantly lower in patients (6.68 pg/mL; interquartile range [IQR]: 1.57-26.55) compared to controls (37.20 pg/mL, IQR: 18.55-167.58) (p < 0.001).

Conclusions: Considering our findings in conjunction with existing literature, miR-98 appears to be a promising candidate biomarker for food allergy.

Background: The global spread of coronavirus disease 2019 (COVID-19) and associated policies have caused negative consequences at the level of children, families, and services, resulting in physical, mental, and developmental issues in children, as well as limited access to healthcare. We evaluated the referral numbers, sources, and trends of a developmental-behavioral pediatrics (DBP) department in Türkiye as a Eurasian country, as well as the effects of the COVID-19 pandemic on referral variables.

Methods: This retrospective cohort study examined patient referral data to the Division of Developmental Behavioral Pediatrics, Department of Pediatrics, Hacettepe University between the years 2014 and 2021. We analyzed the changes in the number of referrals over time in 3-month intervals using polynomial regression models. The impact of the COVID-19 pandemic on referral reasons was evaluated.

Results: Polynomial regression analyses demonstrated significant nonlinear trends in consultation volumes across all categories. During the pre-pandemic period, referrals showed a marked increase, reaching a peak around 2018 before declining. In the post-pandemic period, an initial surge in consultations was followed by a notable decline after 2021. Notably, referral numbers had dropped to their lowest levels during the pandemic. Similarly, referrals to neonatal and pediatric clinics increased sharply until 2020, after which a plateau or slight decrease was observed, indicating a deceleration in growth over time. Referrals for perinatal-neonatal risks were 1.359 (95% confidence interval: 1.269-1.456) times higher than in the pre-pandemic period, and those for suspected autism were 1.209 (95% confidence interval: 0.987-1.478) times higher.

Conclusions: Although it is encouraging that our referral trends have improved in the 1.5 years since the COVID-19 pandemic, it is thought that health service constraints caused a considerable increase in prenatal risk and suspicion of autism referrals following the pandemic. Improvement and innovation in healthcare systems to prevent the long-term detrimental impacts of periodic interruptions in healthcare on children's development and behavior is needed.

Neurofibromatosis type 1 (NF1) is characterized by the involvement of multiple systems, including dermatological, neurological, skeletal, and cognitive manifestations. NF1 exhibits almost complete penetrance, with a wide range of symptoms that usually develop over the course of a person's lifetime. The most obvious signs are café-au-lait macules, neurofibromas and axillary or inguinal freckling.Patients with NF1 are predisposed to developing benign and malignant tumors. Some of these tumors are exhibited during childhood. The rate of cancer development over a person's lifetime is higher for patients with NF1 than for the general population. Malignancies associated with NF1 include low grade gliomas, malignant peripheral nerve sheath tumors, juvenile myelomonocytic leukemias, pheochromocytomas, gastrointestinal stromal tumors, rhabdomyosarcomas, breast cancers, malignant melanomas, acute lymphoblastic leukemias, non-Hodgkin lymphomas, carcinoid tumors, and Wilms tumors. The identification of patients with NF1 and their interittent follow-up are important for the early detection of potential complications, especially tumorigenesis. This review aimed to summarize NF1-associated tumors in pediatric patients and recently developed targeted therapies for treating these tumors.

Introduction: In recent years, there has been a significant rise in the number of pediatric cases involving multiple magnet ingestion, resulting in increased incidence and morbidity of injuries. When a metal object and magnet are ingested, either single or multiple, they can cause serious complications such as intestinal obstruction, ischemia, necrosis, fistula, perforation, and even death. This study aims to detail the complications and treatment approaches associated with magnet ingestion in children.

Materials and methods: In our study, we conducted a retrospective analysis of all cases involving the ingestion of a magnet along with a second metal object at two training and research hospitals in our province, which admit pediatric patients, between the years of 2013 and 2023.

Results: A total of 42 patients had a history of magnet ingestion, with the number of ingested magnets ranging from 1 to 41. The median magnet size was 11 mm (range: 5.5-17.5 mm) and the median time to presentation was 24 hours (range: 3-48 hours). Thirteen patients (30.9%) required either endoscopic or surgical intervention to extract the magnets or address complications. Endoscopy was performed on eight patients, while surgical intervention was required for five patients. Among those who underwent surgery, four experienced complications, including intestinal perforation, ileoileal fistula, and internal herniation. Notably, no fatalities occurred following intervention. There was no statistically significant difference in age or magnet size between the interventional and non-interventional groups. However, the length of hospital stay was significantly longer in the interventional group compared to the non-interventional group (P.

Introduction: Hyperandrogenism is a clinical condition in girls, resulting from excessive androgen production originating from the adrenal glands or ovaries. The measurement of androgen hormones plays an essential role in supporting the clinical diagnosis. These hormone levels can be assessed using immunoassay methods or liquid chromatography - tandem mass spectrometry (LC-MS/MS). Our study aimed to assess the efficacy of hormone measurement with both methods in girls clinically diagnosed with hyperandrogenism.

Methods: Girls presenting with hyperandrogenism were included in this cross-sectional retrospective study. The exclusion criteria included a diagnosis of precocious puberty, classical congenital adrenal hyperplasia (CAH), adrenocortical tumors, and the use of medications known to affect androgen levels. Hormones measured simultaneously by both methods were compared. Regression analysis was performed to adjust hormone levels for age and pubertal stage. Receiver operating characteristic (ROC) analysis was performed based on diagnosis, and androgen hormones with the highest specificity and sensitivity for diagnosis were identified.

Results: A total of 96 girls with hyperandrogenism were included in the study. 60 (62.5%) were diagnosed with premature adrenarche (PA), 31 (32.3%) with polycystic ovary syndrome (PCOS), and 5 (5.2%) with non-classical congenital adrenal hyperplasia (NCCAH). Dehydroepiandrosterone sulfate (DHEAS) measured by LC-MS/MS was significantly lower (p.

Background: Ataxia-telangiectasia (A-T) is a rare, autosomal recessive disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency, predisposing affected individuals to recurrent and severe infections. This case report presents a rare example of Shiga toxin-producing Escherichia coli (STEC)-associated hemolytic uremic syndrome (HUS) in a 12-year-old boy with a known diagnosis of A-T. To our knowledge, this is the first reported case of STEC-HUS in a patient with A-T.

Case presentation: The patient presented with vomiting and bloody diarhea Investigations revealed hemolytic anemia, thrombocytopenia, and acute kidney injury. The patient received intravenous immunoglobulin, albumin, and continuous renal replacement therapy and recovered.

Conclusion: This case highlights the increased susceptibility of individuals with A-T to infections and the potential for life-threatening complications, such as HUS. The coexistence of A-T and STEC-HUS presentes unique challenges in diagnosis and management. Early recognition and targeted treatment led to a successful recovery and underscored the importance of close follow-up in immunodeficient patients.

Background: Primary Raynaud's phenomenon (RP) is a functional vasospastic disorder triggered by cold or emotional stress, often occurring without an underlying systemic disease. As autonomic dysfunction is thought to contribute to RP pathogenesis, heart rate variability (HRV) analysis may provide insights into underlying mechanisms. This study aimed to assess autonomic nervous system activity in children with primary RP using HRV parameters.

Methods: The study included 36 primary RP patients (0-18 years) and age- and gender-matched 30 healthy controls with normal 24-hour Holter electrocardiograms (ECG). Data on demographics, laboratory results, 24-hour Holter ECG, capillaroscopy, and treatment were collected. HRV was analyzed in both the time and frequency domains.

Results: In the patient group, 11 (30.4%) were male, and 25 (69.6%) were female, with a median age of 15 (8-18) years. Symptom onset occurred at a median age of 14. The attack patterns were biphasic in 36.1% of patients, triphasic in 30.6%, and monophasic in 33.3%. Capillaroscopy was normal in 16 (44.4%) patients, with minor changes in 20 (55.6%). Six (16.6%) patients had positive antinuclear antibody (ANA) with no autoimmune disease diagnoses. Holter ECG monitoring results were compared with those of healthy controls (median age 15 years), showing significant differences in standard deviation of all normal-to-normal intervals (SDNN) and standard deviation of successive differences between adjacent RR intervals (SDSD) between primary RP patients and controls, but no differences in root mean square of successive differences (RMSSD) or HRV index values.

Conclusion: Pediatric patients with primary RP showed significant autonomic changes compared to controls, though it remains unclear if these changes favor sympathetic or parasympathetic pathways. Further multicenter, prospective studies are needed to clarify these findings.

Objective: This study aimed to explore the distribution, trends, and clinical characteristics of various types of childhood diabetes, including type 1 diabetes (T1DM), type 2 diabetes (T2DM), and maturity-onset diabetes of the young (MODY) in a tertiary health center.

Methods: We conducted a comprehensive review of medical records of individuals aged 0-18 years who were diagnosed with diabetes between January 1996 and December 2023. Clinical and laboratory characteristics at the time of diagnosis, along with the specific diabetes type, were meticulously documented.

Results: A total of 1219 patients were included in the study, of whom 48.4% were female, with a mean age at diagnosis of 9.1 ± 4.3 years. T1DM was diagnosed in 85.8% of patients, T2DM in 6.3%, clinical MODY in 5.2%, and rare forms of diabetes in 2.6%. An increasing trend in T2DM and MODY cases has been observed since 2007. Diabetic ketoacidosis (DKA) was most prevalent in T1DM (47.1%), followed by T2DM (5.2%) and MODY (1.6%). Mean C-peptide levels at diagnosis were 0.57 ± 0.5 ng/mL in T1DM, 3.2 ± 1.3 ng/mL in T2DM, and 1.4 ± 0.9 ng/mL in MODY. Antibody positivity was observed in 78.8% of T1DM, 6.5% of T2DM, and 15.9% of MODY cases. Among the MODY group, genetic analysis was performed in 48 (75%) patients, with GCK gene mutations identified as the most common genetic abnormality in 27 (56.2%) of these patients.

Conclusion: This study demonstrates that T1DM is still the most commonly diagnosed type of diabetes in childhood, while T2DM and MODY are less frequent. However, a temporal increase in the incidence of MODY and T2DM subtypes was observed. The incidence of DKA at diagnosis was significantly higher in T1DM patients compared with those diagnosed with MODY or T2DM.

Background: Chronic functional constipation affects approximately 3% of children globally, leading to painful defecation, fecal incontinence, and abdominal discomfort. Abdominal massage may improve gastrointestinal motility by stimulating vagal activity and reducing abdominal muscle tension. This study aimed to evaluate the effectiveness of abdominal massage therapy as an adjunct treatment for chronic functional constipation in children.

Methods: This randomized controlled trial included 61 children aged 4-10 years (mean age 6.36 ± 1.77) diagnosed with functional constipation. Participants were randomly assigned to two groups: the control group, receiving standard drug therapy, and the intervention group, receiving 12 sessions of Swedish abdominal massage involving effleurage and gentle pressing, vibration of the small and large intestines, kneading of the abdomen, and clockwise circular movements in addition to drug treatment. Outcomes assessed included stool consistency (using the Bristol Stool Scale), constipation severity (measured by the Constipation Assessment Scale), and associated symptoms.

Results: Both groups showed improvements in stool consistency; however, no statistically significant difference was found between them. The intervention group demonstrated a significantly greater reduction in constipation symptoms (Constipation Assessment Scale scores decreased from 14.70 ± 1.29 to 10.21 ± 1.45, P < 0.001.) and fewer episodes of fecal incontinence (from 3.82 ± 1.33 to 2.70 ± 1.33 days/week, P < 0.001) compared to the control group.

Conclusion: A 12-session abdominal massage therapy program appears to be an effective adjunct treatment to standard pharmacological therapy for alleviating constipation-related symptoms in children. Larger, multicenter trials are needed to confirm these findings.

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal, genetically transmitted cardiomyopathy that can cause unpredictable malignant life-threatening arrhythmias. Arrhythmias that may be hemodynamically insignificant in healthy persons, yet may be fatal in patients with cardiomyopathy and end-stage heart failure. Thus, urgent and prompt management of arrhythmias in these patients is essential to achieve favorable outcomes.

Case presentation: Here, we present a 13-year-old male who was referred to our institution with a prediagnosis of ARVC and had sudden cardiac arrest on the second day due to ventricular tachycardia / fibrillation. Successful extracorporeal cardiopulmonary resuscitation (E-CPR) was performed. A successful endo-epicardial ablation of ventricular tachycardia and implantable cardiac defibrillator insertion were performed under extracorporeal membrane oxygenation (ECMO) due to recurrent malignant ventricular arrhythmias. On the fourth day, he was weaned from ECMO without any sequelae. Although the patient did not experience any hemodynamically significant or sustained tachycardia after catheter ablation, he underwent a successful transplantation due to progressive heart failure.

Conclusion: Appropriate and urgent management of life-threatening arrhythmias and when necessary high-quality resuscitation measures including E-CPR and a multidisciplinary coordinated approach is crucial in the management of patients with cardiomyopathy and end-stage heart failure.