The Turkish journal of pediatrics最新文献

Background: This study aimed to evaluate general and condition-specific quality of life in esophageal atresia (EA) patients, identifying risk factors such as associated anomalies and chronic diseases, as well as examining their impact on life quality.

Methods: Patients operated on for EA between 2004 and 2020 comprised the study population. Pediatric Quality of Life (PedsQOL 4.0) and the Esophageal Atresia Quality of Life (EA-QOL) questionnaires were administered to parents of 2-7 year old children as well as both patients aged 8-17 year and their parents. Results of the PedsQOL 4.0 scale were compared with 43 healthy children.

Results: The study included 66 patients (40 aged 2-7 years, 26 aged 8-17 years), with 45.5% females and 54.5% males. The mean age was 7±4.4 years. Quality of life measured by EA-QOL and PedsQOL 4.0 questionnaires showed no significant differences based on patient sex, gestational age or having an anastomotic stricture. In the 8-17 age group, EA patients demonstrated significantly higher emotional scale quality of life than the healthy group (p=0.001) according to parent and child PedsQOL 4.0 questionnaire scores.

Conclusions: The better emotional functioning in the 8-17 age group supports their enhanced anxiety management. Sex, gestational age, or presence of an anastomotic stricture did not impact quality of life. While differences existed between patient age groups in the questionnaires administered, factors like anatomical EA type, repair mode, low birth weight, tracheomalacia, frequent lung infections, presence of associated vertebral, anorectal, cardiac, renal, limb anomalies and/or hydrocephalus (VACTERL-H), gastrostomy placement, and surgical interventions other than EA significantly influenced patients' quality of life. These findings may guide implementing measures to enhance quality of life in EA patients.

Background: Immune thrombocytopenia (ITP) is a multifactorial disease involving environmental and genetic factors. This study aimed to evaluate the association of a single nucleotide polymorphism (SNP) rs3853839 in the Toll-like receptor 7 (TLR7) gene with susceptibility to ITP and its clinical features.

Methods: This retrospective, observational, case-control study was conducted on 172 pediatric patients with ITP and 170 healthy children. Genomic DNA was extracted from peripheral blood and genotyped via a snapshot technique.

Results: The serum TLR7 mRNA in the case group (1.129±0.536) was significantly higher than that in the control group (0.851 ± 0.298) (p<0.001). Female patients with the GG genotype and male patients with the G/(-) genotype demonstrated the highest level of TLR7 mRNA (1.478±0.522 and 1.280±0.590, respectively) (p<0.0001), whereas female patients with the CC genotype and male patients with the C/(-) genotype showed the lowest level of TLR7 mRNA (0.752±0.171 and 0.732±0.218, respectively) (p<0.0001). The severity and chronic progression of ITP was significantly increased in female patients with the GG genotype and male patients with the G/(-) genotype (p<0.05). However, TLR7 rs3853839 polymorphism was not significantly associated with corticosteroid sensitivity and disease recurrence (p>0.05).

Conclusions: This study suggests that TLR7 rs3853839 may be a key genetic factor in the susceptibility and severity of ITP disease, providing new insights into disease progression and severity prediction. These findings present significant insights into the pathogenesis of ITP and may serve as a foundation for developing personalized treatment strategies tailored for pediatric patients with ITP.

Background: Children with cleft palate (CP) are at high risk for otitis media with effusion (OME), which may impair hearing, speech, and development. Although ventilation tube (VT) insertion during palatoplasty is common, its universal use is debated due to uncertain long-term benefits and potential complications. This study aimed to identify preoperative audiological predictors of VT necessity and evaluate VT-related complications.

Methods: A retrospective review was conducted on 65 non-syndromic CP patients who underwent palatal repair without prior or concurrent VT placement. Preoperative audiological evaluations were performed, and patients were followed postoperatively for VT insertion and complications. Preoperative hearing thresholds, cleft severity (Veau classification), and VT related complications were analyzed statistically.

Results: The likelihood of VT insertion rose significantly in parallel with the severity of preoperative hearing loss, ranging from just 5.9% in patients with normal hearing to 75% in those with moderate conductive hearing loss (CHL) (p < 0.001). Pairwise comparisons showed significant differences between normal hearing and both mild (p = 0.0026) and moderate CHL (p = 0.01). CP severity was not associated with preoperative hearing but correlated with higher VT placement (Veau I: 10%, Veau IV: 69.2%; p = 0.035). Complications included otorrhea (45.2%), early extrusion (35.5%), and tympanic membrane perforation (12.9%), with no significant associations to preoperative hearing level and CP severity.

Conclusion: Preoperative hearing level at the time of palate repair is a strong predictor of VT need in CP patients. Mild to moderate CHL significantly increases the risk of persistent OME, supporting early intervention. Normal or slight loss often resolves without treatment, favoring a conservative approach. Higher cleft severity is associated with increased VT placement rates; it does not correlate with preoperative hearing levels or increased VT-related complications. These findings highlight the value of individualized, hearing-based decisions over routine tube placement.

Background: Food-induced anaphylaxis (FIA) is a severe form of food allergy, and literature data about multi-triggered FIA is scarce. This study aimed to evaluate the differences between multi-triggered and single-triggered food anaphylaxis in children.

Methods: The study included pediatric patients (age 100 IU/mL was identified as a predictive factor for multi-triggered FIA (Odds ratio (95% CI): 2.46 (1.40-4.30), p=0.001).

Conclusions: FIA with multiple trigger foods was detected in approximately a quarter of the children with FIA. Multi-triggered FIA was associated with higher rates of atopic disease, asthma, eosinophilia, and increased total IgE levels. A total IgE level higher than 100 IU/mL was a risk factor for multi-triggered FIA. This suggests that high IgE levels may be a warning sign for clinicians to be vigilant for multiple food triggers in the screening and follow-up of FIA patients.

Background: Infections induced by Shiga toxin-producing Escherichia coli (STEC), especially non-O157 serogroups like O145, pose considerable public health risks. Household transmission is crucial in the dissemination of STEC, particularly in settings characterized by close interaction, such as extended families. This study examines a case of a 5-month-old infant with hemolytic uremic syndrome (HUS) attributed to stx1c-positive STEC and analyzes transmission patterns within the household.

Methods: Perianal swab samples were obtained from a 5-month-old infant diagnosed with STEC-associated HUS and six additional household members. Samples of breast milk were examined as well. Samples were inoculated into sorbitol MacConkey agar (SMAC) and cefixime tellurite sorbitol MacConkey agar (CT-SMAC). Polymerase chain reaction (PCR) was utilized to identify stx1, stx2, and O serogroups. Fecal shedding was investigated over a four-month period with repeated sampling.

Results: Six household members, including the infant, tested positive for stx1, although the mother and breast milk samples were negative. The detected strains were classified within the O145 serogroup and exhibited the stx1c variation. Fecal shedding continued for up to four months in the majority of family members, with the infant exhibiting the briefest length of shedding. The family indicated regular intake of raw meatballs ("çiğköfte"), a traditional Turkish food, made with raw meat, identified as a possible source of illness. None of the family members displayed any symptoms except for the infant, who had severe HUS.

Conclusion: This study underscores the critical impact of household transmission on the dissemination of STEC and the hazards associated with traditional raw meat meals such as çiğköfte. Non-O157 STEC serogroups, including O145, are increasingly recognized as significant agents of human infections. The results underscore the significance of monitoring, hygiene education, and preventive strategies to mitigate the dissemination of STEC in families and the wider community. Mitigating extended fecal shedding and detecting foodborne transmission sources are essential for effective public health intervention.

Background: Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age. These include neonatal intrahepatic cholestasis (NICCD), failure to thrive with dyslipidemia, and adult-onset type II citrullinemia. Patients with NICCD typically present with transient intrahepatic cholestasis in infancy, which often resolves spontaneously by one year of age; however, some may progress to severe complications later in life.

Case presentation: Four cases diagnosed with NICCD phenotype are presented. All patients presented with neonatal cholestasis, hypertransaminasemia, galactosuria, and elevated citrulline levels. Molecular analysis identified three disease-causing variants: two previously reported variants, c.955C>T (p.Arg319*) and c.74C>A (p.Ala25Glu), and a novel variant, c.1359G>T (p.Lys453Asn). Treatment included a galactose-free formula, medium-chain triglycerides, and nutritional supplementation, resulting in biochemical and clinical improvement. All patients in our series exhibited a milder clinical course, with no episodes of hyperammonemia or hypoglycemia, no progression to liver failure, and favorable long-term outcomes with dietary management. During a long-term follow-up period ranging from 7 to 11 years, no severe complications were observed. Notably, one patient developed a recurrence of cataract, emphasizing the importance of lifelong dietary adherence and regular eye examinations.

Conclusions: The findings in this paper further expand the genotypic spectrum and genotype-phenotype correlations of CD. Lifelong follow-up is recommended, including ocular examination.

Background: Adherence to antiretroviral therapy (ART) is a major challenge in pediatric human immunodeficiency virus (HIV) management, especially in young children due to medication formulation, administration difficulties, and psychosocial barriers. Single-tablet regimens (STRs) have been shown to improve adherence and viral suppression in adults and adolescents, yet their use in younger children remains limited. Bictegravir/emtricitabine/tenofovir alafenamide (BIC/FTC/TAF) is an STR with a high genetic barrier to resistance, making it a promising option for pediatric patients with adherence difficulties.

Case presentation: We report a case of a 2-year-old girl with perinatally acquired HIV who experienced persistent viremia despite multiple ART regimens. The mother received zidovudine prophylaxis during delivery, and the infant was started on zidovudine (AZT) prophylaxis on the first day of life. The patient's ART history included AZT monotherapy at birth, followed by combination therapy with lamivudine (3TC), lopinavir/ritonavir (LPV/r), and later tenofovir/emtricitabine (TDF/FTC) with dolutegravir (DTG). Despite these regimens, poor adherence related to medication administration difficulties and caregiver challenges contributed to persistent viremia. A multidisciplinary team approach was implemented to address adherence barriers. Given the patient's ongoing virological failure and resistance mutations (L76V and V179E), off-label use of BIC/FTC/TAF (50mg/200mg/25mg) was approved. The dosage was adjusted based on weight, and medication administration was closely monitored. Within one month of treatment, HIV RNA levels significantly declined from 1,800,000 to 207 copies/mL. Viral suppression was maintained over subsequent three-month intervals, with HIV RNA levels of 35, 40, and 43 copies/mL, alongside immune recovery as indicated by increased CD4 counts.

Conclusion: The successful off-label use of BIC/FTC/TAF in a treatment-refractory pediatric HIV case highlights its potential efficacy in young patients facing adherence challenges. Its high genetic barrier to resistance and favorable tolerability make it a promising option when standard therapies fail. Further research is needed to optimize pediatric ART strategies and expand access to STRs globally.

Background: This study aimed to examine the socio-demographic factors associated with measles vaccination coverage among Indonesian children aged 12-23 months, using data from a nationally representative survey.

Methods: A cross-sectional analysis was conducted using the 2018 Indonesian Basic Health Survey (Riskesdas), including 19,425 children aged 12-23 months. Multivariate logistic regression was used to identify factors associated with measles vaccination status, and subgroup analyses were performed across three regional clusters.

Results: Of the children surveyed, 73.46% had received measles vaccination, 68.14% had at least one antenatal care visit per trimester, and 53.59% had received at least one postnatal care visit. The most significant predictors of measles vaccination were frequent postnatal care (AOR: 2.36, 95% CI: 1.86-2.99) and higher maternal education (AOR: 2.31, 95% CI: 1.30-4.10). Other associated factors included the age and employment status of the head of the household (as defined by the Riskesdas study), travel time to healthcare facilities, household expenditure, and urban-rural residence.

Conclusion: Utilization of postnatal care and higher maternal education were key determinants of measles vaccination coverage. Improving maternal healthcare access and promoting female education may enhance vaccination uptake among Indonesian children.

Background: Gasdermin-D (GSDMD) is an inflammasome regulator. Pyroptosis and GSDMD-mediated interleukin (IL)-1β secretion abolish in GSDMD-deficient familial Mediterranean fever (FMF) knock-in mice. We aimed to investigate GSDMD gene expression (GSDMD-∆), acute phase reactants (APRs), serum IL-1β, and IL-18 levels in FMF patients during attacks and attack-free periods.

Methods: We tested GSDMD-∆, serum APRs, and serum IL-1β and IL-18 in 16 FMF patients (G1), during attack (G1-V1) and at attack-free visits (G1-V2). The GSDMD-∆, serum IL-1β and IL-18 were measured in febrile controls with acute infections (G2) and healthy children (G3).

Results: Age and sex distribution of patients and controls were similar. Median GSDMD-∆ was 10 times higher in G1-V1 compared to G1-V2 (p0.05). GSDMD-∆ in G1 strongly correlated with serum C-reactive protein and amyloid-A (r>0.60, p0.05).

Conclusion: We showed a significantly increased GSDMD-∆ for the first time in humans, thereby indicating the distinct role of GSDMD-∆ as a biomarker similar to APRs in FMF attacks. It was even higher than levels detected during acute infections, supporting the functional involvement of GSDMD-∆ in FMF attacks. GSDMD-∆ correlated with APRs but not with serum IL-1β and IL-18 levels.