Turkish Journal of Pediatrics最新文献

Background: The association of meatal stenosis with age at circumcision is controversial. We noticed a high rate of meatal stenosis in a region where early circumcision is traditional. The aim of this study is to compare the age at circumcision between boys with or without meatal stenosis.

Methods: After ethical approval, families of children with meatal stenosis were questioned about age at circumcision and reason for circumcision. Control group consisted of patients with diagnoses other than penile abnormalities, a normal urethral meatus, and having no symptoms about urination. Patients with a history of therapeutic circumcision were excluded from the study.

Results: Between November 2016 and November 2020, 115 patients with meatal stenosis were admitted. All were corrected with ventral meatotomy under general anesthesia. Median age at circumcision was 3 (min:0-max:111) monthsand age at admission was 74 (min:22-max:194) months. Control group consisted of 205 boys. Median age at circumcision was 5 (min:0-max:122) months and age at admission was 96 (13-202) months. There was a statistically significant difference between groups in terms of age at circumcision (p=0.024) but none for age at admission (p=0.356). There was a twofold increase in the meatal stenosis rate (39% vs. 23%) if circumcision was performed before age one (p=0.018). There was no difference between the patients circumcised in the newborn period and later (38% vs 36%, p=0.778).

Conclusions: Our study supports the previous reports suggesting a relation of risk for meatal stenosis and age at circumcision and presents data that age one might be a cutoff for this risk.

Background: Gain-of-function mutations of the NLR family pyrin domain containing 3 (NLRP3) gene have been implicated in autoinflammatory diseases. The NLRP3 Q703K variant is a common variant associated with Cryopyrin-associated periodic syndromes (CAPS) and periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. However, the genotype-phenotype correlation between NLRP3 Q703K variant, CAPS and PFAPA is unclear. In this study, we aimed to investigate the frequency of the NLRP3 Q703K variant in patients with and without autoinflammatory disease and characterize the phenotype in only Q703K variant positive patients.

Methods: A retrospective analysis of 639 patients with autoinflammatory symptoms was conducted. Patients underwent next-generation sequencing (NGS) panel analysis of 16 genes, including NLRP3. For the 68 patients carrying the only Q703K variant, their clinical and demographic information was evaluated. Genetic data from 1461 patients without autoinflammatory symptoms were used as the control group.

Results: Of our 639 autoinflammatory symptomatic patients, the Q703K mutation was detected in 68 (5.3% allele frequency). Heterozygous mutations were detected in 141 patients without autoinflammatory symptoms (4.8% allele frequency, p=0.4887). Of the patients with variant in Q703K, 10 patients were diagnosed with CAPS , 7 patients were diagnosed with PFAPA and the remaining 39 were diagnosed with undefined systemic autoinflammatory disease (uSAID) Conclusions. The Q703K variant, which is seen with similar frequency in the control and autoinflammatory groups, is also of higher prevalence in patients with mild CAPS symptoms and PFAPA syndrome. This variant, together with other undetected genetic variants or epigenetic modifications, may be responsible for the corresponding phenotype. As such, it is essential for clinicians to evaluate their patients using both genetic and clinical evaluations.

Background: Meconium peritonitis occurs when meconium leaks into the peritoneal cavity as a result of intrauterine gastrointestinal perforation. In this study, we aimed to evaluate the results of newborn patients who were followed and treated due to intrauterine gastrointestinal perforation in the pediatric surgery clinic.

Methods: All newborn patients who were followed up and treated for intrauterine gastrointestinal perforation in our clinic between December 2009-2021 were analyzed retrospectively. Newborns who had no congenital gastrointestinal perforation were not included in our study. The data were analyzed using NCSS (Number Cruncher Statistical System) 2020 Statistical Software.

Results: Within twelve years, intrauterine gastrointestinal perforation was detected in 41 newborns, including 26 (63.4%) males, and 15 (36.6%) patients who were operated on in our pediatric surgery clinic. Surgical findings of 41 patients diagnosed with intrauterine gastrointestinal perforation revealed the presence of volvulus (n=21), meconium pseudocyst (n=18), jejunoileal atresia (n=17), malrotation-malfixation anomaly (n=6), volvulus due to internal hernia (n=6), Meckel`s diverticulum (n=2), gastroschisis (n=2), perforated appendicitis (n=1), anal atresia (n=1), and gastric perforation (n=1). Eleven patients (26.8%) died. Total intubation time was significantly higher in deceased cases. Postoperatively, deceased cases passed their first stool significantly earlier than surviving newborns. Besides, ileal perforation was seen significantly more frequently in deceased cases. However, the frequency of jejunoileal atresia was significantly lower in the deceased patients.

Conclusions: Although sepsis has been held primarily responsible for the deaths in these infants from past to present, insufficiency in lung capacity necessitating intubation negatively affects their survival. Early passage of stool is not always an indicator of good prognosis after the operation, and patients may die due to malnutrition and dehydration, even after they are discharged after feeding, defecating and having weight gain.

Background: There is no specific biomarker used in the diagnosis of COVID-19 and predicting its clinical severity. This study aimed to investigate the utility of ischemia-modified albumin (IMA) in diagnosing and predicting clinical severity in children with COVID-19.

Methods: Between October 2020 and March 2021, 41 cases constituted the COVID-19 group and 41 cases constituted the healthy control group. IMA levels were measured at admission (IMA-1) and 48-72 hours (IMA- 2) in the COVID-19 group. In the control group, it was measured at admission. COVID-19 clinical severity was classified as asymptomatic infection, mild, moderate, severe, or critical disease. Patients were divided into two groups (asymptomatic/mild and moderate/severe) to evaluate IMA levels in terms of clinical severity.

Results: In the COVID-19 group, the mean IMA-1 level was 0.901±0.099, and the mean IMA-2 level was 0.866±0.090. The mean level of IMA-1 in the control group was 0.787±0.051. When IMA-1 levels of COVID-19 and control cases were compared, the difference was statistically significant (p < 0.001). When clinical severity and laboratory data are compared, C-reactive protein, ferritin and ischemia-modified albumin ratio (IMAR) were statistically significantly higher in moderate-severe clinical cases (p=0.034, p=0.034, p=0.037 respectively). However, IMA-1 and IMA-2 levels were similar between the groups (p=0.134, p=0.922, respectively).

Conclusions: To date, no study has been conducted on IMA levels in children with COVID-19. The IMA level may be a new marker for the diagnosis of COVID-19 in children. Studies with a larger number of cases are needed to predict clinical severity.

Background: Transient neonatal myasthenia gravis (TNMG) is an acquired disease which occurs in 10 to 20% of infants born to a mother with myasthenia gravis. Even though it is a self-limiting disorder, it may potentially be life-threatening if prompt diagnosis is not made, and expedient supportive respiratory management is not initiated when required.

Case: Here we describe three infants with TNMG. Two of them developed symptoms of TNMG within 24 hours of life, but one developed symptoms at 43 hours of life. One of the patients had an atypical form of TNMG with contracture and hypotonia. The other two infants survived a typical form of TNMG with hypotonia and poor sucking. All cases resolved spontaneously by one to two weeks of life with conservative management.

Conclusions: Infants born to mothers with myasthenia gravis need to be monitored closely for symptoms of TNMG for the first 48 to 72 hours of life. However, the majority of infants with TNMG traverse a benign course and resolve spontaneously with expectant care.

Background: Despite advanced endovascular methods and comprehensive intensive care in the neonatal vein of Galen aneurysmal malformation, overall mortality ranges between 37-63% in treated patients with 37-50% of survivors possessing poor neurologic outcomes. These findings stress the need for more accurate and timely recognition of the patients who may and may not benefit from aggressive intervention.

Case: This case report presents a newborn with a vein of Galen aneurysmal malformation whom antenatal and postnatal follow-up included serial magnetic resonance imaging (MRI) including diffusion-weighted series.

Conclusions: Given the experience from our current case and in light of the relevant literature, it is plausible that diffusion-weighted imaging studies may widen our perspective on dynamic ischemia and progressive injury occurring within the developing central nervous system of such patients. Meticulous identification of patients may favorably influence the clinical and parental decision on early delivery and prompt endovascular treatment versus aiding avoidance of further futile interventions both antenatally and postnatally.

Background: The wrong attitudes of parents on fever create a basis for unnecessary drug use and increased workload. The study was conducted to evaluate the knowledge and attitudes concerning fever and antibiotic use and demonstrate the changes in the last decade.

Methods: This cross-sectional study was composed of two parts, and a total of 500 participants were included. Group 1 (the new group, 50.0%) consisted of 250 participants who participated in the study between February 2020 and March 2020 and Group 2 (the old group, 50.0%) consisted of 250 participants who participated in the study between February 2010 and March 2010. All participants share the same ethnic properties and had been visiting the same center for similar reasons. A validated, structured questionnaire assessing the management of fever and antibiotic use was administered to all mothers.

Results: According to the fever assessment scoring, maternal knowledge of fever and its management in children significantly increased (p < 0.001). The antibiotic assessment score also increased in 2020 (p = 0.002).

Conclusions: The public spotlight on the erroneous use of antibiotics and the management of febrile illnesses seems to be promising. Improving maternal/parental educational status and informational advertisements can enhance parental knowledge concerning fever and antibiotic use.

Background: Advances in neonatal care have led to increased survival of extremely preterm infants. Extremely low-birth-weight (ELBW) infants, defined as infants weighing less than 1000 g at birth, constitute a significant portion of neonatal intensive care unit (NICU) patients. The aim of this study is to determine the mortality and short-term morbidities of ELBW infants and assess the risk factors related to mortality.

Methods: The medical records of ELBW neonates hospitalized in the NICU of a tertiary-level hospital between January 2017 and December 2021 were evaluated retrospectively.

Results: 616 ELBW (289 females and 327 males) infants were admitted to the NICU during the study period. Mean birth weight (BW) and gestational age (GA) for the total cohort were 725 ± 134 g (range 420-980 g) and 26.3 ± 2.1 weeks (range 22-31), respectively. The rate of survival to discharge was 54.5% (336/616) [33% for the infants with ≤750 g BW, 76% for the infants with 750-1000 g BW], and 45.2% of survived infants had no major neonatal morbidity at discharge. Independent risk factors for mortality of ELBW infants were asphyxia at birth, birth weight, respiratory distress syndrome, pulmonary hemorrhage, severe intraventricular hemorrhage, and meningitis.

Conclusions: The incidence of mortality and morbidity was very high in ELBW infants, particularly for neonates born weighing less than 750 g in our study. We suggest that preventive and more effective treatment strategies are needed for improved outcomes in ELBW infants.

Background: Even though intravenous immunoglobulin (IVIG) is a current treatment for Kawasaki disease (KD), 10-20% of patients require additional therapy. This study seeks to investigate the therapeutic effects of glucocorticoids plus IVIG on KD and to ascertain the subsequent effect on platelet activation during the acute phase.

Methods: A total of 32 children with KD were randomly classified into two groups: the experimental group (16 cases) and the control group (16 cases). The control group was exposed to IVIG (2 g/kg), whereas children in the experimental group were treated with IVIG (2 g/kg) + glucocorticoid. Peripheral venous blood samples were obtained from all participants before treatment as well as three days post-treatment to test platelet activation levels with procaspase activating compound-1 (PAC-1) antibody, Toll-like receptor 4 (TLR4), interleukin-6 (IL- 6), tumor necrosis factor-α (TNF-α), procalcitonin (PCT), and C-reactive protein (CRP). Fever duration posttreatment was documented for both groups. Additionally, the coronary arteries in both groups were evaluated during three months of treatment.

Results: After treatment, the experimental group had remarkably lower levels of TNF-α, CRP, PCT, IL-6, PAC- 1, and TLR4 relative to the control group. The fever persistence rate was considerably elevated in the control group compared to the experimental group (log-rank, P=0.024). In addition, the z-score of coronary artery size dropped after IVIG + glucocorticoids treatment compared to the control group, although this difference was not significant.

Conclusions: The IVIG + glucocorticoids can quickly mitigate the inflammatory response and platelet activation. Moreover, it can also improve clinical symptoms in children with KD.

Background: Primary ovarian tumors are rare in the pediatric age group. We reviewed our 40-year experience with ovarian tumors to evalute the clinical features and treatment results in a single institution.

Methods: Between January 1975 and October 2015, 124 girls with primary ovarian tumor were diagnosed and treated in our center. Tumors were identified with biopsy or total resection and/or serum markers. Seventy four children were included in the treatment analysis.

Results: Median age for 124 children was 11.0 years (0.73-17.63). The main complaint was abdominal pain in 85 patients (68.5%). One hundred and five patients (84.6%) had total one-sided salpingo-oophorectomy and five patients had bilateral salpingo-oophorectomy. Amongst 124 cases, 29 patients had mature teratoma, which was the most common tumor in this study. Dysgerminoma (n=21) was the most common malignant histopathologic type. Stage I disease was diagnosed in 57.2% and stage IV in 6.6% of the patients. Five year overall survival (OS) and event-free survival (EFS) for 124 children were 82.5% and 76.3% respectively. For 74 children who received treatment, 5-year OS and EFS were 75.2% and 67.1%, respectively. Age (p < 0.017), histopathological subgroup (p < 0.001), stage (p =0.003) and chemotherapy protocols (p =0.049) were significant prognostic factors for OS.

Conclusions: The survival rates in children with ovarian tumors were comparable with studies in the literature. Although patients treated with platin based regimens had better survival rates, prognosis was still poor for the patients in advanced stages. This should be the focus for further studies and improvements.