The Turkish journal of pediatrics最新文献

Background: Brucellosis is a zoonotic infection transmitted to humans by ingestion of contaminated unpasteurized dairy products or via direct or indirect contact with infected animals. It is characterized by nonspecific symptoms like fever and joint pain, and laboratory findings including anemia, leukopenia, thrombocytopenia, or rarely pancytopenia. Here we report a case of brucellosis with thrombocytopenia that did not improve despite anti-brucella treatment and required intravenous immunoglobulin treatment.

Case presentation: A six-year-old boy from a brucellosis-endemic area presented with fever and fatigue. Initial laboratory tests showed moderate thrombocytopenia and a Brucella agglutination titer of 1/320. Brucella spp. was isolated from blood culture. Rifampicin, trimethoprim-sulfamethoxazole (TMP-SMX), and gentamicin treatment were given to the patient, and clinical improvement followed, with normalization of blood count. However, on day 10, severe thrombocytopenia with epistaxis and ecchymosis developed, suggestive of immune thrombocytopenia (ITP). Intravenous immunoglobulin at a dose of 1000 mg/kg was given, resulting in a rise in platelet count. The patient was discharged with rifampicin and TMP-SMX. During follow-up, his platelet levels returned to normal without the need for additional immunoglobulin, suggesting resolution of Brucella-related immune thrombocytopenia.

Conclusion: Brucellosis should be kept in mind in the differential diagnosis of thrombocytopenia in endemic regions. If there is no response to antimicrobial treatment in brucellosis patients presenting with thrombocytopenia, immune thrombocytopenia should be considered.

Background: Vascular changes are observed in children with cystic fibrosis (cwCF), and gender-specific differences may impact arterial stiffness. We aimed to compare arterial stiffness and clinical parameters based on gender in cwCF and to determine the factors affecting arterial stiffness in cwCF.

Methods: Fifty-eight cwCF were included. Pulmonary function, lean body mass, handgrip strength, and peak oxygen uptake (VO2peak) were assessed using a cardiopulmonary exercise test. Arterial stiffness (pulse wave velocity [PWV] and augmentation index [AIx@75]) and hemodynamic parameters (resting heart rate [HR] and stroke volume [SV]) were measured using brachial pulse waves. Endothelial function (ICAM-1, sVCAM-1, sE-selectin, VEGF-A, ET-1) was evaluated using blood samples.

Results: Female cwCF had significantly lower VO2peak, SV, and PWV, and higher resting HR, AIx@75, and AIx@75-z-score than male cwCF (p<0.05). AIx@75-z-score was associated with gender (r=0.516, p<0.001), age (r= -0.345, p=0.008), lean body mass (r= -0.451, p<0.001), forced expiratory volume in one second (FEV1)-z-score (r= -0.332, p=0.011), handgrip strength (r= -0.466, p<0.001), and VO2peak (r= -0.459, p<0.001) and peak workload (r= -0.527, p<0.001). AIx@75-z-score was not associated with ICAM-1, sVCAM-1, sE-selectin, VEGF-A, or ET-1 (p>0.05). The FEV1-z-score and gender explained 34.6% of the variance in AIx@75-z-score (p<0.05).

Conclusions: Female cwCF have more impaired hemodynamics, less maximal exercise capacity, and increased arterial stiffness, indicating a higher cardiovascular risk compared to male cwCF. FEV1 and gender affect arterial stiffness in cwCF. Further studies are necessary to uncover the underlying factors for arterial stiffness and endothelial dysfunction and their clinical effects in cwCF.

Background: We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF).

Methods: This retrospective study included patients under 18 years of age, diagnosed with MKD and followed for at least six months at the pediatric rheumatology department of Istanbul University - Cerrahpaşa Medical Faculty between 2016 and 2024.

Results: Of 33 patients, 51.5% were female, with a median age of symptom onset at 6 (2-17.3) months. Eight patients had a history of tonsillectomy, and seven exhibited an underlying exon 10 Mediterranean FeVer (MEFV) gene mutation. The mean diagnostic delay was 67.6 months, which was longer for those with exon 10 mutations (95.0 months) and those with a history of tonsillectomy (99.5 months). The median duration of attacks was 5 (4-7) days. The median frequency of attacks was 12 (10-24) per year. The most prevalent clinical findings observed during these attacks included malaise (87.8%), arthralgia (69.6%), abdominal pain (63.6%), cervical lymphadenopathy (63.6%), diarrhea (54.5%), and maculopapular rash (51.5%). A total of 30 patients (90.9%) identified pre-attack triggers. Among the patients evaluated, 19 (57.5%) were homozygous for V377I, and 7 (21.2%) had V377I biallelic heterozygous mutation in MVK gene. Cytopenia was observed in 18 patients (54.5%) during episodes, including anemia (39.3%), lymphopenia (24.2%), leukopenia (12.1%), and neutropenia (9%).

Conclusions: Patients presenting with periodic fever suggestive of FMF who exhibit atypical features should be evaluated for MKD. Further genetic testing should be performed when atypical clinical findings are present, even in those carrying pathogenic variants in exon 10 of the MEFV gene.

Animal allergens, particularly those from cats, dogs, and horses, are significant risk factors for the development of allergic diseases in childhood. Managing animal allergies requires allergen avoidance and, when this is not feasible, specific immunotherapy. Patient history remains the cornerstone of diagnosis, providing the foundation for diagnostic algorithms. Extract-based tests, such as skin prick tests and specific IgE measurements, are essential for confirmation and screening. However, traditional extract-based diagnostic methods have notable limitations, as they are unable to distinguish between primary sensitization and immunological cross-sensitization, and also has the potential for both false negatives and false positives. Polysensitization may arise from either multiple independent sensitizations (co-sensitization) or cross-sensitizations, between homologous allergens. Due to complex cross-reactivity and polysensitization in mammals, extract-based tests are often insufficient in determining the true allergen, so molecular allergen testing should be used. Even with molecular testing, there is no consensus on how to define complex and intriguing sensitization patterns in mammals. In this report, we review the literature on cat, dog, and horse allergies and propose a novel approach to identifying complex sensitization patterns based on the current state of knowledge. We recommend that the evaluation of cat, dog, and horse allergies should begin with investigating genuine sensitization to Fel d 1, Can f 4/5, and Equ c 4, respectively. As a subsequent step, we propose a practical approach to determine primary allergen sensitization within the lipocalin group. Secondary sensitizations should then be evaluated in the context of recent contact history and presenting symptoms. While serum albumin is less strongly associated with true animal allergies, we suggest that it may serve as a complementary marker when considered alongside cross-reactive food allergen molecules.

Background: Umbilical arterial catheterisation is a common intervention performed in the neonatal intensive care unit (NICU) especially in extremely preterm and extremely low birth weight neonates. Rarely catheter fracture or breakage can occur, leaving behind part of the catheter in the aorta. A handful of cases have been reported in the literature, with the majority being managed surgically. There is no well-established protocol or consensus on the optimal management of such situations, leaving clinicians to rely on innovative and individualized approaches to address this critical situation.

Case presentation: We report the successful percutaneous retrieval of a fractured umbilical artery catheter (UAC) from the aorta of a very low birth weight preterm neonate born at 28 weeks of gestation, who was undergoing treatment for neonatal sepsis at our hospital's NICU. The fractured catheter was retrieved via the right femoral artery using an improvised snare created by double-folding and inserting a 300 cm, 0.014-inch coronary guidewire into a Judkins Right (JR) 6F coronary guide catheter, forming a loop that protruded from its distal end. Following retrieval, the patient exhibited transiently weak pulses and decreased limb movement in the accessed limb. A duplex colour Doppler scan was performed which ruled out thrombosis or dissection. It was attributed to a spasm of the common femoral artery, which recovered eventually.

Conclusion: This case demonstrates the feasibility and effectiveness of successful percutaneous removal of the fractured UAC from the aorta in very low birth weight preterm neonates and underscores the importance of innovative use of improvising hardware, appropriating it to the small size of the patient.

Background: Delirium in patients with ulcerative colitis may be seen, especially in the elderly and in patients hospitalized for a long time. In children, Wernicke's encephalopathy may occur due to thiamine deficiency in both ulcerative colitis and Crohn's disease. We present a patient with ulcerative colitis who presented with delirium as the first symptom, did not respond to steroid treatment and improved with anti-tumor necrosis factor-alpha treatment.

Case presentation: A 14-year-old male child presented with complaints of nonsensical speech and hallucinations for two days. He also had 2-3 loose, non-bloody stools per day. Neurological examination was normal. There was no electrolyte abnormality or vitamin deficiency. The patient's diarrhea gradually increased and became bloody, and was ultimately diagnosed with ulcerative colitis. The patient, who did not respond to steroid treatment, completely recovered with anti-tumor necrosis factor treatment.

Conclusions: We report a patient with ulcerative colitis who presented with delirium as the first symptom. The absence of electrolyte imbalance or vitamin deficiency in our patient suggests that inflammation is the cause of this condition. To the best of our knowledge, this is the first description of the relationship between inflammatory bowel disease and delirium in children.

Background: Disruptive behaviors (DB) are common problems in young children. The aim of the current study was to highlight the effect of disruptive behaviors on functionality in preschool children and their families and identify factors that may be related to functionality.

Materials and methods: A total of 223 patients were included in the current study from the Turkish Validity and Reliability Study of Preschool Age Psychiatric Assessment (PAPA). The disruptive behavior problems group (n=93) was selected according to PAPA and consisted of patients who had more than 3 conduct problem symptoms, with these symptoms leading to impairment. The control group (n=130) was selected from patients with no disruptive behavior disorder and 3 or fewer conduct problem symptoms . Preschool Age Psychiatric Assessment and Child Behavior Checklist for Ages 1.5-5 (CBCL/1½-5) were used for assessment.

Results: We found that spanking with the hand, verbal dispraise, and selective negative view to child were more frequent in the DB group than in the control group. DB symptoms were found to have a negative impact both on the child's functioning in several areas and on the parent's life in specific areas. Additionally, most of the CBCL scores were significantly higher in the DB group. Finally, it was shown that not only disruptive symptoms but factors such as the presence of attention deficit hyperactivity disorder, parental psychopathology, and the age of the child predicted impairment in this functioning.

Conclusion: These findings emphasize that parents' and child's functionalities can be highly affected by disruptive problems even in an early period such as preschool and that this area should not be ignored in evaluation and interventions.

Background: Substance use is rapidly increasing in the pediatric age group worldwide. There is not enough toxicological data on substance use among children and adolescents in Türkiye. This study aims to reveal the forensic toxicological characteristics of cases under the age of eighteen with substance use detected.

Methods: In our study, forensic toxicological reports of biological samples taken from 587 cases brought to our institution by law enforcement officers due to allegations and/or suspicions of substance abuse between January 1, 2022, and June 30, 2024 were retrospectively examined. The cases were reviewed in terms of variables such as gender, age, age group, substance type (if any), and presence of multiple substance use.

Results: Out of the cases, 89.1% (n=523) of the cases were male and 10.9% (n=64) were female. The majority of cases (93.2%) were observed in the 15-17 age group, accounting for 547 individuals. Of the cases, 29.0% (n = 170) were identified as multiple substance users. Amphetamine-type stimulants (ATS) were present in 68.7% (n = 403) and cannabis was found in 48.2% (n = 283) of cases. It was observed that only cannabis use was significantly higher among males and only ATS use was higher among females (Cramer's V = 0.202, p < 0.001). The association between gender and substance type was statistically significant; however, the strength of the association was small to moderate.

Conclusion: This study assessed substance use profiles in adolescent populations through substance testing. ATS were the most frequently detected substances. The analysis revealed a significant increase in the proportion of female cases over time. While cannabis use was more prevalent among males, ATS use was more common among females. Collecting objective, valid, and definitive data will facilitate the identification of substance use issues and support the development of effective preventive policies.

Background: Cat scratch disease (CSD) presents with diverse symptoms; however, meningitis as a complication is rare, and effective treatment strategies remain underexplored.

Case presentation: An 11-year-old girl presented with a prolonged fever of unknown origin, mild cough, and headache. Metagenomic next-generation sequencing (mNGS) identified Bartonella henselae in the bloodstream, and cerebrospinal fluid analysis confirmed meningitis. The patient was diagnosed with CSD complicated by meningitis and demonstrated a successful recovery following treatment with doxycycline, rifampicin, and prednisone.

Conclusions: In CSD patients presenting with headaches and persistent fever, the possibility of meningitis should be considered. mNGS is a valuable diagnostic tool for CSD, especially in cases of fever of unknown origin. The combination of doxycycline, rifampicin, and prednisone proved effective in managing CSD with meningitis.

Background: Hypospadias, a congenital condition characterized by the urethral opening being on the underside of the penis, has received limited attention in its association with the MTHFR C677T variant. Given the crucial role of folate metabolism in embryonic development, and the involvement of the MTHFR C677T polymorphism in folate metabolism, this study aims to investigate whether this variant contributes to the risk of hypospadias in an Algerian population.

Methods: This case-control study included 105 patients with hypospadias and 125 controls. Genotyping of the MTHFR gene C677T variant was performed using polymerase chain reaction-restriction fragment length polymorphism.

Results: A statistically significant difference in the genotype distribution of the MTHFR C677T variant between patients with hypospadias and controls was revealed. The significance was observed in the codominant genetic model CT vs. CC (p=0.034, odds ratio [OR]: 1.89, 95% CI: 1.04-3.44) and TT vs. CC (p=0.042, OR: 2.15, 95% CI: 1.02-4.53), as well as in the dominant model CC vs. CT+TT (p=0.010, OR: 1.98, 95% CI: 1.17-3.35). Maternal periconceptional folic acid supplement intake showed a significant association with the anatomical types of hypospadias in relation to the MTHFR C677T genotypes when folic acid was taken (p=0.006). Furthermore, a significant association was observed with the TT genotype in isolated hypospadias cases (p=0.038, OR=3.47, 95% CI: 1.03-11.68), suggesting a potential role of folic acid in modifying hypospadias risk. Multiple logistic regression analysis identified intrauterine growth restriction, gestational hypertension, residency, and the MTHFR C677T variant as independent potential risk factors for hypospadias development (p-values: 0.030, 0.016, 0.040, and 0.045, respectively).

Conclusions: This study reports, for the first time, an association between the MTHFR gene C677T variant and hypospadias in the Algerian population. The findings suggest a strong association between the MTHFR C677T variant and susceptibility to hypospadias. Identified risk factors such as intrauterine growth restriction, gestational hypertension, rural residency, and the MTHFR C677T variant contribute valuable insights into the multifaceted etiology of hypospadias in this population.