The Turkish journal of pediatrics最新文献

Background: Giant mucinous cystadenomas are rare in adolescents and young adults.

Case presentation: We report a mucinous cystadenoma in a 16-year-old postmenarchal girl presented with abdominal distention and pain, and elevated serum CA-125 levels. Radiological evaluations showed a large cystic mass originating from the right ovary. The patient underwent successful surgery with complete resection of the tumor without rupture and the histopathological examination confirmed the diagnosis of a benign mucinous cystadenoma.

Conclusion: The case emphasizes the importance of early diagnosis and the need for total surgical resection without rupture to ensure a favorable outcome in such cases and close follow-up is recommended.

Background: The prevalence of acute suppurative appendicitis (ASA) is the highest among pediatric cases of acute abdominal conditions. This research examined the stress response linked to surgical techniques and identified potential biomarkers that could predict postoperative complications to enhance clinical treatment strategies.

Methods: This study involved a selection of 166 ASA patients who underwent laparoscopic appendectomy (LA), and 150 patients who underwent open appendectomy (OA), based on data collected from 2020 to 2023. Comprehensive documentation of clinical and pathological characteristics, as well as postoperative complications, was conducted following patient enrollment. Quantitative polymerase chain reaction (qPCR), enzyme-linked immunosorbent assay (ELISA), and blood smear techniques were employed to assess the levels of microRNA (miR)-155-5p, C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), superoxide dismutase (SOD), and malondialdehyde (MDA), as well as changes in leukocytes, neutrophils, and lymphocytes at preoperative and postoperative 0 h, and 24 h. A logistic regression model was utilized to identify risk factors associated with the development of complications. Furthermore, receiver operating characteristic (ROC) curve analysis was performed to assess the predictive capacity of miR-155-5p for the occurrence of complications.

Results: The study revealed that the levels of miR-155-5p postoperatively in patients undergoing OA was significantly greater than that observed in patients undergoing LA (P.

Background: Gastric teratoma is a rare neoplasm, particularly in neonates, and usually presents as a palpable abdominal mass. However, severe occult gastrointestinal bleeding is uncommon and often misdiagnosed. Imaging studies are crucial for the preoperative diagnosis of neonatal teratoma, but definitive diagnosis relies on pathological examination.

Case presentation: A 28-day-old boy presented with abdominal distension accompanied by vomiting for 2 days without hematemesis or melena. A complete blood count upon admission showed a hemoglobin level of 37 g/L. Ultrasound and computed tomography scans indicated a large cystic, solid mass in the abdominal cavity (approximately 9.8 × 8.8 × 11.2 cm), containing nodules, septa, calcification, and fat, and causing gastrointestinal compression. The mass was misdiagnosed as lymphangioma with hemorrhage before surgery. During surgery, the upper pole of the tumor was found to be fused with the gastric wall of the greater curvature of the fundus of the stomach, with most of the tumor growing exophytically and a small portion growing into the gastric lumen. The tumor, along with part of the gastric wall at the attachment site, was completely removed. Postoperative pathological examination revealed an immature teratoma grade 1. After discharge, the patient's growth and development were normal, with no adverse manifestations.

Conclusions: Neonatal gastric teratoma with severe occult gastrointestinal bleeding is extremely rare and hence must be on the list of differential diagnoses of neonatal abdominal mass when a cystic solid mass is found, especially when accompanied by severe anemia without obvious gastrointestinal bleeding. Attention should be paid to the location of the lesion, which is predominantly in the left upper abdomen and has been significantly pushed and displaced by the gastrointestinal tract, and to the imaging characteristics of teratoma such as fat and calcification, which help to exclude other palpable masses encountered during the neonatal period.

Background: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms.

Methods: The Cystic Fibrosis Registry of Türkiye (CFrT) data was used to determine the age of patients in the year 2021 and the genetic variants they were carrying. Age- and CFTR-variant appropriate modulator therapies were determined using the Vertex® algorithm.

Results: Among a total of 1930 registered patients, CTFR gene analysis was performed on a total of 1841 (95.4%) patients. Mutations were detected in one allele in 10.7% (198 patients), and in both alleles in 79% (1455 patients) of patients. A total of 855 patients (51.7% for whom at least 1 mutation was detected) were eligible for the drugs. The most appropriate drug among genotyped patients was found to be elexacaftor/tezacaftor/ivacaftor for 486 patients (26.4%), followed by ivacaftor for 327 patients (17.7%) and lumacaftor/ivacaftor for 42 patients (2%).

Conclusions: Only half of patients registered in CFrT were eligible for CFTRms, which is a significant difference from the CFTR variant profile seen in USA and Europe. However, access to treatment is hampered for some patients whose genes are not analysed. Further studies in CF populations, where rare mutations are relatively more common, will contribute to the field of CFTR modulator treatments for such rare mutations.

Background: Congenital lung malformations (CLMs) refer to structural abnormalities of the lungs that occur during fetal development. Matrix metalloproteinases (MMPs) constitute a group of zinc-dependent enzymes, with certain members of this family playing pivotal roles in the remodeling of the lungs both prenatally and postnatally. This study aimed to explore expression levels of MMP-2, MMP-7, and MMP-9 in CLMs which are recognized as pivotal contributors to their clinical pathology.

Methods: A total of 41 patients between the ages of 0-17 years that had undergone lung surgery for CLMs between March 2007- July 2023 were analyzed. The demographic features, clinical and pathological findings were recorded. The expression levels of MMP-2, MMP-7 and MMP-9 in patients' tissues were examined by reverse transcription polymerase chain reaction and compared in CLMs and adjacent normal lung tissues.

Results: Among patients with CLMs, 12 patients had congenital pulmonary airway malformations (CPAM, one patient had bilateral lesions), 18 patients had bronchopulmonary sequestration (BPS), 7 patients had congenital lobar overinflation (CLO), and 4 patients had bronchogenic cyst (BC). The higher expression of MMP-7 and MMP-9 in all CLM tissues compared to normal tissue was observed. But, there was a trend in MMP-2 expression in CPAM tissues and MMP-2 showed high expression in the BPS, CLO and BC groups, which was not statistically significant. Upon collective analysis of all groups, it was observed that mRNA expressions of MMP-7 and MMP-9 exhibited greater upregulation in CPAM and BC in comparison to BPS and CLO.

Conclusions: Our findings indicate a specific involvement of MMP-7 and MMP-9 in the pathogenesis of CLMs, particularly in CPAM and BC. To the best of our knowledge, this research represents the initial demonstration of MMP expression in CLMs.

Background: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. The combination of OI and inflammatory arthritis is rare. Our literature review identified 5 cases of OI-related inflammatory arthritis, but only 2 of these cases have been reported in children.

Case report: We present 3 cases diagnosed with OI and juvenile idiopathic arthritis (JIA). Two were diagnosed with enthesitis-associated arthritis, and one was diagnosed with oligoarticular JIA with laboratory findings and a magnetic resonance imaging examination. Only one of the patients had a previously diagnosed OI. For the others, whole gene sequence analysis was performed, and a mutation in the collagen type I alpha 1 (COL1A1) gene was detected. Identifying and treating inflammatory arthritis in our patients with OI improved their joint pain.

Conclusion: Musculoskeletal pain is a common issue in individuals with OI and JIA. Considering children with OI may also develop arthritis, early diagnosis, and accurate treatment may be crucial. Recognizing the rare association between JIA and OI is important, as investigating this relationship could help alleviate the disease burden. Thorough evaluation and prompt diagnosis of JIA in patients with OI can significantly reduce the impact of the disease.

Background: Child sexual abuse (CSA) is a severe problem with physical, emotional, social, moral, cultural, and legal dimensions, which is estimated to be quite common worldwide.

Methods: In this retrospective study including 262 CSA cases admitted to our outpatient clinic between 2013 and 2022, we examine the characteristics of the victim and the abuse and examination findings in cases of CSA.

Results: In our study, most of the victims were females over the age of 12, and most of the suspects were known to the child. Approximately half of the incidents (50.1%) occurred in a home. These data are essential in determining the risk factors of CSA cases and in terms of early detection and timely prevention. Vaginal penetration (40.8%) and anal penetration (32.4%) are frequently present in the history of CSA victims. A history of vaginal penetration was associated with acute and healed laceration findings in the hymen (p.

Background: The most common medical sequelae after earthquakes are crush injuries and syndromes that require urgent and well-organized care, which further complicates the approach in the face of overstretched resources. The 2023 Kahramanmaraş earthquake, with a magnitude of 7.7, was one of the largest disasters in Türkiye, affecting 11 cities with a population of about 13.5 million people and claiming more than 50,000 deaths. Approximately 4.6 million pediatric patients were affected, with over 500 children undergoing amputations. The overwhelming number of cases rendered further treatment efforts nearly unfeasible.

Cases: Here we present three cases of severe crush injuries in which amputation was initially considered in both primary and our tertiary centers but was prevented by a protocol that included therapeutic plasma exchange (TPE) and intensive hyperbaric oxygen treatments (HBOT). Based on our review of the literature, this appears to be the first case series documenting the use of therapeutic plasma exchange (TPE) in the management of crush injury.

Conclusion: In extremities at risk for amputation, TPE therapy is crucial to preventing disseminated intravascular coagulation, systemic inflammatory response syndrome, and the accompanying multiorgan failure. It has been shown that extremities at risk for amputation due to poor perfusion can be managed confidently during the safe recovery period of daily TPE therapy with frequent HBOT, anticoagulant and vasodilator treatments, frequent wound care to prevent the development of infection, prophylactic antibiotics, vacuum-assisted closure therapy, and debridement when necessary.

Background: The treatment modalities for testicular appendage torsion in children are classified as conservative or surgical, and the choice is controversial.

Objectives: This study aimed to identify ultrasound-based indicators influencing the outcome of conservative treatment in children with testicular appendage torsion to divide the boundaries between conservative and surgical management.

Methods: A retrospective analysis was conducted on testicular appendage torsion data of children from November 2022 and November 2023 in the Children's Hospital of Zhejiang University School of Medicine to compare the conservatively successful and conservatively unsuccessful groups' clinical and ultrasound characteristics. Furthermore, we constructed a logistic regression model and evaluated its predictive ability.

Results: We observed 405 (88.62%) and 52 (11.38%) cases of conservative success and failure, respectively. Univariate analysis indicated significant differences between these groups in testicular appendage torsion nodule size, terminology for hydrocele, scrotal wall edema, and increased epididymal blood flow (p.

Background: In transfusion-dependent forms of β-thalassemia, chronic anemia and iron overload lead to the development of oxidative stress-related DNA damage. In β-thalassemia minor (β-Tm), oxidative stress resulting from an unbalanced globin chain ratio has been documented, even in the absence of anemia and its complications. However, the status of oxidative stress-related DNA damage has not yet been elucidated. The aim of this study was to assess DNA damage in β-Tm in a pediatric population.

Material and methods: We compared 142 children with β-Tm to 113 healthy controls, including siblings of the β-Tm individuals. The comet assay was used to assess DNA damage in peripheral blood lymphocytes. Additionally, oxidative stress markers and biochemical parameters were measured.

Results: No significant differences were observed between the β-Tm group and controls in terms of demographics, biochemical parameters, or baseline oxidative stress levels (p>0.05). In the comet assay, there was no difference in tail intensity (TI) between subjects and controls, nor between siblings with and without β-Tm (p=0.551 and p=0.655, respectively). However, when the β-Tm group was divided by age, a gradual increase in DNA damage, as measured by TI, was observed. This increase was more pronounced in the β-Tm group compared to controls.

Conclusion: We observed no significant differences in DNA damage between β-Tm individuals and controls. However, TI increased at a faster rate with age in carriers compared to non-carriers, suggesting that environmental factors might exert a more pronounced influence on the genetic integrity of individuals with a β-Tm background. Although β-Tm itself does not seem to pose a substantial genotoxic risk in childhood, our findings underscore the importance of further research into the interplay between β-Tm and other risk factors throughout life. We advocate for long-term monitoring of β-Tm children to assess the health and potential genetic consequences.