Pediatric Reports最新文献

Systemic viral infections are frequently life-threatening in immunocompromised children. Many viral pathogens are reported to be the cause of morbidity and mortality in these pediatric patients, but scarce evidence is related to respiratory syncytial virus infection (RSV), which is one of the main viral causes of lower respiratory tract infection in infants and young children. Herein we report the experience of the Center of Pediatric Hematology Oncology of Catania regarding RSV infection in pediatric leukemia patients, describing four cases: three with only respiratory involvement and complete recovery (two of them presented mild symptoms and one evolved into severe respiratory failure) and a fourth case with an initial hepatic and pulmonary involvement leading to death. Unfortunately, some viral infections have delayed diagnoses because of lack of awareness and atypical presentation. Therefore, our intent is to highlight the importance of mindfulness of the occurrence of this infection and of its typical and atypical manifestations in order to detect it early and decrease the risk of morbidity and mortality.

Objectives: The purpose of this study was to examine the prospective, longitudinal relations among childhood poverty and rural adolescents' internalizing and externalizing problem behaviors, and the mediational roles of adolescent attachment to parents and peers. Methods: Participants were from a longitudinal study of rural poverty. Two home visits were conducted, roughly four years apart (Time 1: N = 226; Mage = 13.36, 52.7% male; Time 2: N = 215; Mage = 17.47 years, 51.2% male). Each family's income-to-needs ratio was assessed at each visit. At Time 2, participants completed questionnaires reporting their attachments to parents and peers, and their externalizing and internalizing symptoms. Results: Parent attachment was found to mediate the relationship between Time 1 family income-to-needs ratio and Time 2 internalizing problems. The mediational effects of peer attachment predicting Time 2 internalizing or externalizing symptoms were not significant. Conclusions: The long-term impact of childhood poverty on adolescents' parent attachment and their well-being is discussed.

Background/Objectives: In children, gastroesophageal reflux disease (GERD) may lead to epithelial barrier dysfunction and the release of thymic stromal lymphopoietin (TSLP), interleukin-25 (IL-25), interleukin-33 (IL-33) and periostin, known as alarmins. These cytokines are associated with type 2 inflammation and may contribute to respiratory and allergic conditions. The main purpose of this study is to evaluate serum concentrations of TSLP, IL-25, IL-33, and periostin in children with and without GERD and to assess their relationships with bronchial hyperresponsiveness (BHR) and sensitization to inhaled allergens. Methods: The study included 93 children aged 7-17 years. GERD was diagnosed based on 24-h esophageal pH impedance monitoring. Serum levels of TSLP, IL-25, IL-33, and periostin were measured using enzyme-linked immunosorbent assay (ELISA). It should be noted that the assay used does not distinguish between TSLP isoforms, which represents a limitation of the study. BHR was assessed via a methacholine challenge test, and allergen sensitization was determined using skin prick tests and allergen-specific immunoglobulin E (asIgE). Results: Serum TSLP levels were significantly higher in children with GERD compared to those without, whereas IL-25, IL-33 and periostin did not differ notably between groups. Periostin was associated with the degree of sensitization to inhalant allergens, but no significant links were found between cytokine levels and bronchial hyperresponsiveness. Conclusions: Significantly higher TSLP levels were noted in children with GERD than in those without. Hence, TSLP may have a potential role as a biomarker of epithelial immune activation in pediatric GERD. In addition, periostin was associated with sensitization to inhalant allergens, although it did not differentiate between children with and without GERD.

Bacterial meningitis is one of the most serious infections. Salmonella meningitis is associated with a high prevalence of long-term adverse outcomes, often linked to acute complications and a broad range of potential neurological sequelae following the infection. Acute complications such as brain abscesses and chronic complications such as hearing loss and developmental delay. In this report, we present a case of a 2-month-old male patient with seizures, hypoactivity and respiratory symptoms, who was found to have Salmonella bacteremia complicated by Salmonella and Human Herpes Virus-6 (HHV-6) meningitis, as well as rhinovirus bronchiolitis, along with follow-up findings. The patient's data, including demographics, presenting symptoms, physical examination findings, and whole exome sequence results, as well as investigations such as complete blood count (CBC), cerebrospinal fluid (CSF) analysis, liver enzyme levels, and imaging findings, were collected from the electronic medical record system using a case report form. In addition, immunological workups were performed, as serious Salmonella infections were more common in immunocompromised patients. In the literature, there was no clear correlation between Salmonella and HHV-6 meningitis, rhinovirus bronchiolitis, and the complications that developed in this infant. This case report provides valuable insights into the clinical spectrum and long-term outcomes of patients with Salmonella meningitis.

This case report describes a patient (male, 10 years old) with Autism Spectrum Disorder (ASD) and multiple comorbidities, including epilepsy, gastrointestinal and sleep disturbances, and obesity. Whole-exome sequencing (WES) identified two variants of uncertain significance (VUS) in the GRID2 gene. Mutations in this gene are associated with spinocerebellar ataxia type 18 (SCA18). However, this finding did not correlate with the clinical presentation of the patient. This study evaluates the effects of Radio Electric Asymmetric Conveyer (REAC) stimulation on the cognitive-behavioral dysfunctions of a child with severe ASD and multiple comorbidities. Two stimulation protocols-Neuro Postural Optimization (NPO) and Neuro Psychophysical Optimization (NPPO)-and REAC were performed sequentially. After five weeks of treatment, a 34.9% reduction in total scores on the Autism Treatment Evaluation Checklist (ATEC) and an 8.2% on the Autism Behavior Checklist (ABC) were observed. Assessment of the severity of ASD symptoms using the Childhood Autism Rating Scale (CARS) tool showed less pronounced improvement. The REAC intervention yielded a reduction in Social Relating impairment and an improvement in Sensory/Cognitive Awareness. Further research in this area should employ extended REAC protocols to replicate and amplify clinical responses among individuals with ASD.

Background/Objectives: Pediatric and adolescent gynaecology addresses the distinct developmental needs of the reproductive systems of young patients. Diagnosing and treating gynaecological issues in this age group are challenging due to overlapping symptoms and the developmental stage. This study aimed to identify common gynecological issues based on retrospective analysis of medical documentation from the Developmental Gynecology and Sexology Laboratory of the Gynecology Clinic, Department of Gynecology, Poznan University of Medical Sciences (UMP) from the years 2012-2023. Methods: The study involved 4942 patients under 18 years old. Medical records from the years 2012-2023 were analyzed, focusing on the most frequent diagnoses. Statistical analyses were performed using StatSoft STATISTICA PL 10 software, with a significance threshold of p < 0.05. Results: The most frequent diagnosis was pelvic pain syndrome (77.8%), followed by androgenization syndromes (13.2%). While the number of admissions remained stable over the years (r = 0.131, p > 0.05), there was a significant increase in the percentage of androgenization syndromes (p = 0.0040) and a decrease in pelvic pain syndrome cases (p = 0.0018). Other conditions such as eating disorders and psychosexual issues were also prevalent, highlighting the need for a multidisciplinary approach. Conclusions: The analysis indicates a shift in adolescent gynaecological diagnoses over time, with pelvic pain syndrome decreasing and androgenization syndromes increasing. The findings underline the importance of specialised, multidisciplinary care and further research to adapt diagnostic and therapeutic strategies to the changing landscape of pediatric gynaecology.

A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose-galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation in exon 8 of the SLC5A1 gene (c875G>A, p.Cys292Tyr). This gene codes for a sodium-glucose cotransporter called SGLT1. To date, no clinical case reports have reported hypertriglyceridemia and hypercholesterolemia with CGGM. Hypercalcemia and medullary nephrocalcinosis have also been reported only in a handful of CGGM cases worldwide. Through this case, the authors attempt to highlight the uncommon manifestation of this rare disease to facilitate timely management. Although the child died due to healthcare-associated infection (HCAI), pre-natal counseling of the family was carried out for the management of future pregnancies.

Background: The coexistence of sickle cell disease (SCD), vascular Ehlers-Danlos syndrome (vEDS), primary ciliary dyskinesia (PCD), and Phelan-McDermid syndrome (PMS) in a single pediatric patient is extremely rare and poses substantial diagnostic and management challenges.

Case presentation: We report an 8-year-old male from Jazan, Saudi Arabia, born to consanguineous parents, with early-onset SCD, followed by the identification of vEDS, PCD, and PMS through clinical presentation and whole exome sequencing. His disease course has been exceptionally severe, marked by monthly hospitalizations, multiple PICU admissions, and a wide spectrum of systemic complications.

Conclusions: The coexistence of SCD, vEDS, PCD, and PMS may lead to synergistic vascular, pulmonary, and neurodevelopmental compromise, demanding multidisciplinary long-term management. This case underscores the need for a comprehensive targeted genetic assessment in patients with unusually aggressive or syndromic SCD phenotypes, particularly in regions with high levels of consanguineous marriages.

Objective: The objective of this retrospective cross-sectional study is to explore how caregiver social determinants of health, appraisal of healthcare provider effectiveness, and insurance coverage influence caregiver ability to have their adolescent child access vision care, including completion of annual vision screening, visiting an ophthalmologist or optometrist, and completion of recommended additional screenings. Study Design: We used National Survey of Children's Health (NSCH) data for 12-17-year-old adolescents for the years 2022 and 2023 (n = 37,425). Summary statistics for the selected sample were generated and binary logistic regressions were conducted. Outcome variables were the type of vision screening that occurred or not. Covariates were socioeconomic and demographic data of the adolescent's primary caregiver. Independent variables were insurance coverage and healthcare provider's skill and effectiveness. Results: Significant associations were reported between visiting an ophthalmologist or optometrist and each of spending enough time with patients; listening carefully to patients; and making patients feel like care is a partnership. Additionally, significant associations were reported between insurance coverage and both successful completion of vision screening and visiting an eye doctor. Conclusions: This study underscores the substantial impact of effectiveness of eye doctors in delivering annual vision exams and insurance adequacy on adolescent vision care engagement. Our results will inform the development of future evidence-based educational interventions to raise awareness on the importance of annual vision screenings in US adolescents and emphasize the need for screening mandates to advocate for this important public health issue.

Background: Hyperventilation Syndrome (HVS) is a well-recognized physiological consequence of acute anxiety, often resulting in respiratory alkalosis and subsequent electrolyte imbalances. Among these, a reduction in ionized calcium levels can lead to neuromuscular irritability and electrocardiographic abnormalities such as QTc prolongation. Although well-documented in specific settings, including autism spectrum disorders and drug-induced crises, such complications are rarely described in otherwise healthy pediatric patients presenting with isolated anxiety episodes. This report aims to raise awareness of anxiety-driven somatic manifestations, particularly in the context of the rising prevalence of mental health disorders among children and adolescents. Methods: We report the case of a previously healthy 10-year-old girl presenting to the emergency department with acute agitation and hyperventilation. Clinical examination revealed neuromuscular symptoms, including Trousseau's sign and flexion posture. Initial laboratory testing and arterial blood gas analysis indicated respiratory alkalosis with decreased ionized calcium levels, and a resting ECG showed QTc prolongation (510 ms). Treatment included intravenous midazolam, a balanced electrolyte solution, and oral bromazepam during intensive observation with cardiac monitoring. Results: The patient's symptoms progressively improved following anxiolytic and supportive therapy. Electrolyte abnormalities normalized within 48 h, with complete resolution of the prolonged QTc (430 ms). No arrhythmias or other complications occurred. Outpatient psychological follow-up was arranged upon discharge. Conclusions: This case underscores the importance of considering anxiety as a primary etiology in pediatric patients with apparent metabolic or cardiac abnormalities. Early psychiatric recognition and targeted supportive care can prevent overtreatment and reduce the burden on emergency and cardiologic resources.