Current Pediatric Reviews最新文献

The literature review presents data from a limited number of available studies conducted over the last two decades on immunological deficiency in congenital heart defects (CHDs), which is the cause of frequent infectious complications before and after cardiac surgery. Several studies based on screenings at various levels indicate the presence of primary and secondary immunodeficiency in CHDs, in particular about 13 genetic syndromes in which CHD is combined with immunodeficiency. The available data suggests a greater severity of immunological disorders in patients with critical CHDs, cyanotic CHDs, and conotruncal defects with T-cell dysfunction and deficiency of immunoglobulins (especially the IgG class, mainly IgG4) than in patients with shunts and obstructive defects. To identify defects in the T- and B-cell components of the immune system, quantification of the DNA of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs)-by-products of the maturation of T- and B-cell receptors- has proven helpful in the world practice of neonatal screening. It allows the evaluation of a number of functionally mature T- and B-cells. In Russia, however, its widespread use started only in 2023. Data on the use of this assay in infants with CHDs are represented by isolated case reports. In Russia, a combination of CHD and primary immunodeficiency was found in 37% of cases in the Sverdlovsk Region. We conducted our own study of 200 children with CHD; 5% of cases were syndromic forms of CHD. 48.5% of children were admitted to the cardiac surgery clinic in critical condition. A decrease in the TREC level was detected in 23.5% of cases, including all children with syndromic CHD. In the group of patients with immunological disorders, there were significantly more children with cyanotic CHD, children admitted in critical condition, and children with conotruncal defects. Infectious complications in the postoperative period (sepsis, pneumonia, tracheobronchitis, postoperative wound infection) were observed significantly more often in 47 children with reduced TREC levels compared to children with normal TREC levels (P = .00000, in 36% and 3.6%, respectively). The analysis of publications confirms the prognostic value of TREC and KREC screening for targeted preoperative preparation to reduce postoperative complications and decrease the risk of mortality in CHDs.

In preterm infants, necrotizing enterocolitis (NEC) is one of the most devastating complications seen in the neonatal intensive care unit (NICU), with both short- and long-term sequelae. Outcomes reported for mono- (versus di-) chorionic twins suggest an increased incidence in the monochorionic twins, usually attributed to abnormal placental vascular connections. Same sex concordance and zygosity data suggest shared genetic and environmental factors as important contributing factors to the pathogenesis of NEC. This concept is further supported by fecal microbiome data from preterm twins. However, there is also some uncertainty in these observations because studies that controlled for gestational age did not show significant differences between singletons and twins in the occurrence of NEC. This mini-review was undertaken as a critical appraisal of the published literature in terms of twin studies to establish the genetic relevance vis-àvis NEC. There is a need for further evaluation of genetic and confounding factors arising from the environment and the gut microbiome in these infants using cohorts with larger sample sizes.

Antibiotic misuse among children continues to be one of the major critical public health issues worldwide, particularly in developing countries such as Jordan. Incorrect antibiotic use is hugely influenced by parents' knowledge and attitudes on the subject at hand. This review, therefore, seeks to establish the current state of parental knowledge and attitudes toward antibiotics in Jordanian children, with particular emphasis on those gaps in awareness and knowledge that underpin the inappropriate use of antibiotics. Despite prescription regulations, many still depend on over-the-counter purchases, usually due to misconceptions about the efficiency of antibiotics in viral infections or a lack of insight into the risks of misuse. The results strongly suggest that focused educational programs are needed to improve parents' knowledge of prudent antibiotic use. It integrated an analysis of the socio-cultural factors affecting parental decisions and recommended improvising the public health strategies in their fight against antibiotic resistance. The study concluded that emphasis must be laid on both regulatory enforcement and public awareness about appropriate antibiotic use in pediatric care to bring about better health outcomes in Jordanian children.

Background: Hirschsprung disease (HSCR) is a multifactorial disorder due to the enteric nervous system (ENS) development failure. At least 35 genes have been responsible for HSCR, including EDNRB and EDN3. Here, we aimed to determine the EDRNB and EDN3 expressions effects in HSCR subjects.

Methods: Our study analyzed EDNRB and EDN3 expressions in the colon of HSCR subjects and controls by a quantitative PCR. The EDNRB and EDN3 expressions were analyzed by the Livak method (2-ΔΔC T).

Results: Twenty-seven HSCR patients and 20 controls were ascertained. EDNRB and EDN3 expressions downregulated was found in ganglionic and aganglionic HSCR than control colons (EDNRB: ΔCT 6.78 ± 1.38 vs. 1.71 ± 2.79; p = 0.0001 (ganglionic); ΔCT 4.41 ± 1.63 vs. 1.71 ± 2.79; p = 0.0005 (aganglionic); and EDN3: ΔCT 7.60 ± 1.93 vs. 1.81 ± 2.89; p = 0.0001 (ganglionic); ΔCT 9.72 ± 4.32 vs. 1.81 ± 2.89; p = 0.0001 (aganglionic)). A significant difference in EDNRB and EDN3 expressions was also noted between the HSCR colon: ganglionic vs. aganglionic segment (p = 0.00002 and 0.017).

Conclusion: We report the downregulated EDNRB and EDN3 expressions in HSCR subjects, indicating EDNRB/EDN3 expressions have a significant responsibility in HSCR pathogenesis. Nevertheless, we further clarify the complexity of the development of ENS.

Background: There are established and well-followed guidelines for pediatric oncology patients who have neutropenic fever. However, there are no explicit criteria for this patient group, and over 50% of pediatric oncology patients with fever do not present with neutropenia.

Objective: In this scoping review, we have explored the outcomes of non-neutropenic fever in pediatric, adolescent, and young adult patients with cancer-directed treatment. The results of this scoping review should assist in the creation of a guideline for the management of non-neutropenic fever in this group of patients.

Method: Multiple electronic databases and reference lists were searched (PubMed, MEDLINE CENTRAL, and Google (first 100 results only)). Included are retrospective and prospective cohort studies on the management and outcome of pediatric oncology patients with non-neutropenic fever that have been published after the year 2000.

Results: Seventeen studies with a total of 10.845 fever episodes were included, that address the treatment and outcome of patients with non-neutropenic fever. The rate of bacteremia was 1.6 - 14.4% (mean 5.8%). The mortality rate was low due to non-bacterial causes. Across different studies, proposed risk factors for bacteremia were higher temperature, prolonged fever over 72 hours, ill-appearing patients, chills, hypotension, leukocytosis, infancy, and the presence of a Broivac/ Hickman catheter. Limitations to this study are the risk of bias, and potential incomplete identification of relevant studies pertinent to the research questions asked.

Conclusion: Due to significant heterogeneity, the published data so far are not sufficient to propose evidence-based guidelines for pediatric oncology patients with non-neutropenic fever. Prospective, multicenter registries based on uniform definitions are needed. No funding was received for this manuscript.

Introduction: The diagnosis of pediatric tuberculosis (TB) is challenging, due to the lower sensitivity of microbiological tests, such as culture and microscopy, compared to their performance in adult cases. Guidelines have introduced molecular tests, including GeneXpert MTB/ RIF and GeneXpert MTB/RIF Ultra. These tests use a real-time polymerase chain reaction method and provide information on M. tuberculosis detection and drug-resistance-associated mutations in less than 2 hours. This retrospective single-center study aimed to evaluate the accuracy of GeneXpert and GeneXpert Ultra for the diagnosis of pediatric TB.

Methods: This retrospective study was conducted on a total of 95 children diagnosed with probable or confirmed TB disease (74 diagnosed with pulmonary TB, 21 with extrapulmonary TB), who referred to the infectious disease unit at Meyer Children's Hospital in Florence, Italy, and tested with GeneXpert MTB/RIF or GeneXpert Ultra, from 2013 to 2023.

Results: GeneXpert and GeneXpert Ultra demonstrated a detection rate of 0.357 (95% CI 0.180 to 0.535) and 0.537 (95% CI 0.417-0.657), respectively. No child was tested with both tests. Patients' characteristics, including age and sex, did not significantly influence the test's performances. Notably, GeneXpert Ultra had a significantly higher detection rate in children with extrapulmonary TB (0.813, 95% CI 0.621 to 1.004) compared to that in children with pulmonary TB (p = 0.020). Gastric aspirate was the most tested specimen. Specimens that did not require invasive procedures for collection (including stool) yielded poor results. GeneXpert and GeneXpert Ultra permitted rapid evaluation of genotypic drug-sensitivity testing (DST), even though limited to rifampicin resistance, making necessary confirmation through phenotypic DST (performed on culture).

Conclusion: The introduction of GeneXpert and GeneXpert Ultra improved TB diagnosis in children, by providing microbiological information in a short time, complementing results from culture, which remains the reference test in pediatric TB diagnosis.

Introduction: Neuroblastoma is the most common extracranial solid tumor found in childhood.

Case representation: Primary renal neuroblastoma has been reported in the literature as case reports. Almost all cases had a preliminary diagnosis of Wilms tumor and were diagnosed as neuroblastoma after nephrectomy. Renal localized neuroblastoma may not be distinguished radiologically from Wilms tumor.

Discussion: We report a case of a 9-month-old infant with primary intrarenal neuroblastoma and provide a literature review. The definitive differential diagnosis of some renal masses is both radiologically and clinically challenging.

Conclusion: In such cases, the input of a multidisciplinary team, including the oncologist, surgeon, and radiologist, is invaluable in deciding on a biopsy or nephrectomy.

The cornerstone of treatment for respiratory distress syndrome in preterm infants is surfactant administration, traditionally performed through an invasive procedure involving tracheal intubation and mechanical ventilation. Consequently, there has been a growing interest in exploring less invasive methods of surfactant delivery to mitigate the associated risks. Currently, several techniques are under evaluation, including intratracheal instillation using a thin catheter, aerosolized or nebulized administration, and guided administration by supraglottic airway devices. One such method is surfactant administration through laryngeal or supraglottic airway, which involves placing a laryngeal mask without the need for laryngoscopy and administering surfactant through the device. The simplicity of laryngeal mask insertion could potentially streamline the surfactant delivery process, eliminating the necessity for advanced skills. This narrative review aimed to assess the current evidence in the literature regarding the benefits and risks associated with surfactant administration through a laryngeal supraglottic airway.

Preterm newborns represent a population at risk of developing intestinal dysbiosis as well as being predisposed to sepsis and Necrotizing Enterocolitis. Necrotizing Enterocolitis is a condition burdened by many complications and mortality due to an alteration of the intestinal barrier, an immaturity of the immune system, and intestinal dysbiosis. Low gestational age at birth, low birth weight, and early use of antibiotics are other predisposing factors. Instead, breast milk and probiotics are protective factors in providing intestinal homeostasis and microbiome regulation. In this mini-review, we analysed the protective role of probiotics in the onset of Necrotizing Enterocolitis in preterm populations.

Despite the implementation of global iodine supplementation initiatives in the past decade, the problem of iodine deficiency persists as a significant public health concern in numerous countries. Although cretinism is now rare in developed countries, iodine deficiency can still lead to less severe cognitive deficits, which can negatively impact academic achievement, intellectual capacity, and work productivity. There is a scarcity of studies regarding the status of Cyprus, and the global database does not have any information pertaining to the prevalence of iodine deficiency in Cyprus. The geographical setting of the research is of importance as it pertains to the separation of Cyprus into two distinct areas. One region is predominantly inhabited by Greek Cypriots, where the practice of salt iodization is not mandatory. Conversely, the other region is primarily inhabited by Turkish Cypriots, who may potentially experience higher amounts of iodine contact due to their reliance on food imports from Turkey, where salt-iodisation is compulsory. The main objective of this study is to provide an overview of recent research conducted on the prevalence of iodine deficiency in Cyprus and neighboring Mediterranean nations. In this study, we assess the current method and subsequently offer public health recommendations for future research endeavors.