Search Results (7,914)

Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibrofatty replacement of cardiomyocytes. The inflammatory episodes of ACM, known as the “hot phase”, can mimic acute myocarditis. It was seldom observed in a DES-associated ACM as a “hot-phase” presentation. Case Presentation: The proband, a 13-year-old female, initially presented with a series of clinical manifestations of fulminant myocarditis. Although recommendation-guided anti-immunotherapy had been provided, this patient still developed into an aggressive cardiomyopathy with biventricular dilation and severe systolic heart failure. Additionally, cardiac magnetic resonance demonstrated circumferential late gadolinium enhancement in left ventricular myocardium with diffuse fibrosis. Whole-exon sequencing identified a de novo missense variant, as c.335T>A (p.L112Q) of the DES gene, resulting in protein dysfunction. And a diagnosis of ACM due to a DES variant had been identified. Finally, this patient received heart transplantation, and biventricular fibrofatty infiltration was confirmed by pathological analysis. Conclusions: This case presented a de novo genetic variant that can induce severe and aggressive heart failure. This finding emphasizes the importance of comprehensive genetic analysis in patients suspected of having fulminant myocarditis, which would greatly benefit the precise clinical management and outcomes. Full article

Introduction: Adolescent suicide behavior is a global concern and a leading cause of morbidity and mortality in this age group. Pharmaceutical ingestion is a frequent method of suicide attempts, requiring toxicology and psychiatric interventions. This study analyzed data from a pediatric tertiary hospital to elucidate the trends, demographics, and methods used. Methods: This retrospective study was conducted at a single tertiary pediatric hospital in Romania and included adolescents aged 10–18 years admitted for suicide attempts between 2014 and 2024. Data extracted from electronic medical records included age, sex, residence, suicide method, psychiatric history, and clinical outcomes. Temporal trends were analyzed using regression-based methods, and group comparisons were performed using chi-square tests, with statistical significance set at p < 0.05. Results: The study included 1840 adolescents, with a significant increasing trend over time (p < 0.0001), but with a transient decline in 2020. The female-to-male ratio was 5.4:1 (p < 0.0001). The median age of the patients was 15.2 years. The suicide attempt methods were pharmaceutical poisoning (95%), chemical ingestion (4%), and violent methods (1%). Females were more prone to pharmaceutical poisoning, while males were associated with chemical ingestion and violent methods (p < 0.0001). Previously documented psychiatric disorders were present in 32.8% of patients, while 9.6% had a history of prior suicide attempts. Two fatalities (0.1%) were recorded, both involving defenestration. Conclusions: Hospital-treated suicide attempts among Romanian adolescents increased over time, mainly affecting females through pharmaceutical poisoning. Adolescents without prior psychiatric diagnoses reveal gaps in early identification and prevention. These findings highlight important patterns among hospital-treated adolescents and may inform targeted prevention efforts. Full article

Background: This case report presents a 12-year-old male with vertically transmitted chronic hepatitis B virus (HBV) infection, exhibiting a rare pan-reactive serological profile (concurrent HBsAg, HBsAb, HBeAg, HBeAb, and HBcAb positivity) alongside fluctuating low-level viremia (HBV DNA: 1.06 × 10² IU/mL to undetectable). Rigorous exclusion of technical artifacts confirmed the authenticity of this atypical serologic pattern, observed in <0.001% of the general population. Methods: Liver biopsy and immunohistochemical staining were performed to evaluate hepatic inflammation and fibrosis. HBV serological markers and viral load were quantified using commercial diagnostic kits, with longitudinal monitoring for 18 months. Results: Liver biopsy revealed Grade 2 inflammation with focal HBsAg/HBcAg expression, supporting immune-active chronic hepatitis B (CHB) despite partial seroconversion. The patient’s clinical course highlights key challenges in pediatric HBV management: (1) delayed immune reconstitution (18-month longitudinal HBeAg/HBeAb dynamics), (2) non-linear virologic-ALT correlation, and (3) diagnostic ambiguity in pan-positive serology—potentially reflecting S-gene escape mutants or transitional immune responses. Initiation of tenofovir disoproxil fumarate (TDF) achieved sustained virologic suppression, underscoring the importance of early antiviral therapy in pediatric CHB with atypical markers. Conclusions: This case provides preliminary insights into the complex interplay between viral evolution and immature host immunity, advocating for refined monitoring protocols integrating high-sensitivity HBV DNA, quantitative serology, and non-invasive fibrosis assessment in pediatric HBV care. Full article

Background. Autoimmune sclerosing cholangitis (ASC) is a rare clinical entity characterized by overlapping features of autoimmune hepatitis and primary sclerosing cholangitis. It predominantly affects pediatric patients. Therapeutic management is often complex, requiring a multidisciplinary and individualized approach, especially in the context of associated autoimmune diseases. Case presentation. We present the case of a female patient diagnosed at the age of 10 with ASC, for which immunosuppressive therapy with prednisone, azathioprine (AZA), and ursodeoxycholic acid (UDCA) was initiated, with an initially favorable course. One year later, following a Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) infection, the patient experienced reactivation of liver disease and subsequently developed ulcerative pancolitis (UC), for which 5-aminosalicylic acid (5-ASA) therapy was initiated. Due to repeated hepatic flares and/or colitis relapses, therapy was escalated successively to mycophenolate mofetil, tacrolimus, and eventually infliximab (IFX). Despite treatment, the liver disease progressed, culminating in liver cirrhosis. Our patient developed portal hypertension and esophageal varices, with two episodes of upper gastrointestinal bleeding requiring endoscopic band ligation. At the age of 14, the patient developed recurrent episodes of non-infectious ulcerative stomatitis. Biopsy of the lesions revealed non-specific chronic inflammation, unrelated to colitis activity (confirmed microscopic remission of UC). By exclusion, an adverse drug reaction was suspected, with AZA being the most likely cause. Following its discontinuation, the lesions resolved. Beyond the physiological and therapeutic aspects, the patient displays marked emotional fragility due to prolonged and repeated hospitalizations (18 out of 60 months), which have impacted treatment adherence. Conclusions. This case highlights the complexity of managing pediatric patients with multiple autoimmune diseases. The necessary combination of immunosuppressive therapies may lead to significant adverse effects and further complicate disease progression. Moreover, psychological components play a crucial role in treatment compliance and therapeutic success, emphasizing the need for an integrated approach that includes specialized psychological support. Full article

Background/Objectives: Uncooperative behavior in pediatric dental settings remains a significant barrier to effective treatment. Factors such as demographics, psychological variables, and family influences may impact children’s behavior, but their relative importance is not fully understood. This study explores the emotional, familial, and demographic factors influencing cooperation among children in dental clinics in Jeddah, Saudi Arabia. Methods: A cross-sectional study was conducted among children aged 6–11 years attending dental clinics in Jeddah, Saudi Arabia. Participants undergoing non-invasive dental procedures were recruited. Behavioral cooperation was assessed using the Frankl Behavior Rating Scale, and dental anxiety was measured using the validated Abeer Children Dental Anxiety Scale (ACDAS). Data on demographic characteristics, child cognitive factors, and parental dental anxiety were collected through structured interviews. Multivariable logistic regression analysis was performed to identify independent determinants of cooperative behavior. Results: A total of 906 children were included in the analysis. Demographic variables, including gender, age, and income, were not significantly associated with child behavior (all p > 0.05). Fear of losing control emerged as the strongest predictor in the model. Children reporting fear of losing control had significantly lower odds of cooperative behavior (AOR = 0.14, 95% CI [0.10–0.22], p < 0.001). Shyness in the clinic was not statistically significant (p = 0.216). Maternal dental anxiety was significantly associated with child behavior, with higher maternal anxiety scores linked to lower odds of cooperative behavior (AOR = 0.96, 95% CI [0.93–0.997], p = 0.032). Paternal dental anxiety was not significantly associated with child behavior (p = 0.701). Conclusions: Fear of losing control and maternal dental anxiety were independently associated with children’s behavioral responses during dental visits. These findings highlight the relevance of children’s perceived control and maternal anxiety in understanding behavioral outcomes in pediatric dental settings. Full article

Background: Sickle cell disease (SCD) is a hereditary disorder affecting red blood cells’ shape and functional capacity. Individuals with SCD report relatively high co-occurrence of neurodevelopmental disorders (NDDs). In addition, these children also have higher rates of enuresis (incontinence) and pica, disorders prevalent in children with developmental delays. Both enuresis and pica can have negative effects on mental health, but their pathophysiology, especially in SCD, remains unclear. Objectives: The objective of this study was to determine the rates of pica and enuresis in a pediatric SCD clinic to compare the co-occurrence of NDDs and enuresis/pica. Methods: To do so, we performed a cross-sectional explanatory retrospective chart review of 275 pediatric SCD patients. Results: Our SCD cohort had a 27% prevalence of enuresis, 9% prevalence of pica, and 24% prevalence of one or more NDDs. We noted significant inter-group overlap between pica/enuresis and other risk SCD severity factors. NDDs were approximately twice as frequent in SCD patients with pica or enuresis compared to those without. While pica was associated with HbSβ⁺, it was not linked to disease severity indicators. Enuresis was associated with hydroxyurea usage (66.7% vs. 42.6%, p = 0.001) and reticulocyte counts, indicative of higher disease severity. Conclusions: Clinically, these results are the first to show co-occurrence between pica, enuresis, and NDDs in SCD. We suggest that the occurrence of pica or enuresis may serve as an indicator for previously unknown NDD risk. Together, these results underscore the need for targeted screenings of pica and enuresis in SCD populations. Full article

Background: Traumatic brain injury (TBI) and hypoxic-ischemic encephalopathy (HIE) cause significant pediatric morbidity through primary insults and secondary cascades like excitotoxicity, neuroinflammation, and impaired plasticity. Nerve growth factor (NGF) promotes neuroprotection, anti-inflammation, and repair, but delivery challenges persist. This review evaluates preclinical and clinical evidence on intranasal human recombinant NGF (hr-NGF) to enhance neurorepair in pediatric TBI and HIE patients. It aims to clarify the potential of intranasal hr-NGF as part of future multimodal approaches to enhance brain repair and improve functional recovery across the lifespan. Methods: A PRISMA-guided literature search (2000–2025) was conducted across Scopus, PubMed, and Cochrane CENTRAL using terms like “intranasal NGF”, “TBI”, “HIE”, and “pediatric”. Eligible studies involved pediatric brain injury patients receiving NGF, with outcomes via clinical scales, imaging, or EEG. Results: Preclinical models showed that intranasal NGF reduces lesion volume, inflammation, and deficits while boosting angiogenesis and cholinergic function. Clinically, one child with meningitis and five TBI cases exhibited improved consciousness, spasticity, motor scores, cognition, and brain imaging. Three HIE cases gained voluntary movements, expressivity, and perfusion. No adverse events occurred related to hr-NGF administration. Conclusions: Intranasal hr-NGF safely reactivates plasticity in pediatric brain injury, yielding motor, cognitive, and neurophysiological gains. Preliminary data support multimodal use, but randomized trials are needed to optimize protocols and confirm efficacy. Full article

Background: Studies on the clinical presentation of eosinophilic esophagitis and its outcome in children in the Middle East and North African region are scarce. The aim of this 10-year retrospective study was to describe the common clinical manifestations, endoscopic and histological findings, and the response to medication and dietary intervention in children and adolescents with eosinophilic esophagitis. Methods: This study was a retrospective chart review of patients aged 6 months to 18 years who attended the Pediatric Gastroenterology clinic at the American University of Beirut Medical Center between 1 January 2013 and 30 June 2023 and who were diagnosed with eosinophilic esophagitis. Results: A total of 15 patients met the inclusion criteria. The median age at diagnosis was 9 years. Male patients accounted for 73% of our cohort. The most frequent presenting symptoms were dysphagia (80%) and choking (47%). The esophagus appeared normal in 33% of subjects despite histologic confirmation of disease, highlighting the importance of routine biopsies. Adherence to therapy was variable, with 73% of subjects reporting symptom improvement following initial therapy, even in cases where histology remained active. This pattern suggests that symptomatic improvement alone may not reliably reflect disease control and underscores the importance of objective monitoring through follow-up biopsy. Conclusions: The recognition of manifestations of eosinophilic esophagitis in children, early diagnosis, and strict adherence to the diet and medication are essential to prevent long-term complications. In a resource-constrained country like Lebanon, the management remains challenging in view of the burden of dietary restrictions and high cost of procedures and biologics. Socioeconomic feasibility and long-term adherence to diet and medication is as critical as pharmacologic efficacy in determining outcomes in pediatric patients. Full article

Background/Objectives: Joubert syndrome (JS) is a rare neurodevelopmental disorder characterized by cerebellar and brainstem malformations, resulting in a complex and heterogeneous motor phenotype. Despite increasing clinical recognition, functional assessment and physiotherapy strategies in this population remain insufficiently characterized. This study aimed to synthesize current rehabilitation evidence and to propose a conceptual framework for functional motor assessment in children with JS. Methods: A structured narrative review was conducted across PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, and PEDro databases, including studies published between 2000 and 2026. Eligible studies involved pediatric patients (0–18 years) with JS and reported physiotherapy or motor-related outcomes. Data were synthesized descriptively, and recurring functional domains were identified to inform the development of a conceptual framework. Results: Ten studies (eight case reports and two case series) were included. Rehabilitation approaches were heterogeneous and predominantly multidisciplinary, focusing on postural control, trunk stability, and motor milestone acquisition. Functional improvements were reported across studies; however, outcome measures were primarily based on generic pediatric tools such as GMFM-88 and WeeFIM. These tools did not fully capture the multidimensional nature of motor impairment, particularly in relation to regulatory and sensorimotor domains. Evidence also suggested that postural control and gross motor performance may not fully correspond, highlighting additional functional components such as axial control and thoracoabdominal organization. Given the absence of formal risk-of-bias assessment and the low methodological quality of included studies, all findings should be interpreted as exploratory. Conclusions: Current functional assessment in JS may not adequately reflect the interaction between regulatory processes, sensorimotor integration, and motor control. The proposed conceptual framework provides a multidimensional, hypothesis-generating perspective that may support clinical reasoning and physiotherapy planning. Further research is required to validate this framework and to develop more sensitive, syndrome-specific assessment tools. Full article

Background/Objectives: To evaluate whether mandibular third molar germectomy is associated with differences in neurosensory injury, postoperative complications, and patient-centred outcomes compared with delayed extraction. Methods: A systematic review and meta-analysis were conducted according to PRISMA guidelines. Electronic searches were performed in PubMed, Embase, Web of Science, Scopus, Cochrane Library, LILACS, and Google Scholar. Comparative studies including pediatric or adolescent patients undergoing mandibular third molar germectomy were included. Primary outcomes were inferior alveolar nerve (IAN) injury and overall postoperative complications; secondary outcomes included postoperative morbidity and patient-reported outcome measures (PROMs). Random-effects models were used for quantitative synthesis. Results: Ten studies met the inclusion criteria, including two randomized controlled trials and eight observational studies. Comparative evidence suggested that early removal at an immature developmental stage was associated with a lower risk of IAN injury (pooled RR = 0.05, 95% CI 0.01–0.37) and fewer overall postoperative complications (pooled RR = 0.29, 95% CI 0.20–0.42) compared with delayed extraction. However, certainty of evidence was limited due to heterogeneity, risk of bias, and potential confounding. PROMs consistently showed a short-term increase in pain and temporary quality-of-life impairment after germectomy, while delayed-onset infections were reported several weeks after surgery. Conclusions: Germectomy may reduce neurosensory risk and overall postoperative morbidity in selected developmental-age patients but entails a measurable short-term symptom burden. Decisions should therefore rely on individualized risk assessment and shared decision-making rather than routine preventive removal. Further prospective comparative studies with standardized outcome reporting are required to support definitive clinical recommendations. Full article

Background: CD8A-related CD8α deficiency (Immunodeficiency 116) is a rare autosomal recessive primary immunodeficiency disease characterized by absent CD8⁺ T cells and variable sinopulmonary disease. Case Presentation: A seven-year-old boy from a consanguineous family was referred for chronic wet cough and “uncontrolled asthma” despite being prescribed high-dose inhaled corticosteroids and montelukast. He was hospitalized seven times over a two-year period for presumed asthma exacerbations complicated by pneumonia. An examination revealed bilateral crackles without wheezing. Throat culture tested positive for Haemophilus influenzae. CT imaging showed signs of chronic rhinosinusitis (maxillary mucosal thickening) and chronic airway disease with bronchiectatic changes. The patient’s immunoglobulin levels were within normal ranges for his age group. Flow cytometry revealed profound CD8⁺ T-cell lymphopenia (CD8⁺ 0.21%; 11 cells/µL; near-absent after excluding dual-positive cells) with expansion of CD3⁺CD4⁻CD8⁻ T cells (29.5%). CD8A gene sequencing identified a novel homozygous nonsense variant NM_001768.7:c.319C>T (p.Arg107Ter; GRCh38: chr2:86790412G>A), consistent with loss of CD8α and secondary loss of CD8β surface expression. A literature review identified three previously reported symptomatic patients (and two asymptomatic sisters in the first family), all with recurrent respiratory infections and variable structural lung disease. Conclusions: This case highlights CD8A deficiency as a rare mimic of pediatric asthma and expands the genotype spectrum with a truncating CD8A variant. Early lymphocyte immunophenotyping in children with recurrent sinopulmonary infections may prevent delayed diagnosis and progressive airway damage. Full article

Objective: To investigate the effects of virtual reality (VR) technology on pain and anxiety in hospitalized pediatric patients undergoing Peripheral Venous Catheterization. Methods: This study is a randomized controlled trial (RCT). Between July and December 2024, eligible pediatric inpatients aged 5–14 years from the Chegu Branch of Wuhan Union Hospital were randomly assigned to either the experimental group or the control group. The control group received routine care during peripheral venous catheterization, including health education and psychological comfort. The intervention group, in addition to routine care, used VR headsets to watch age-appropriate game videos, with each VR session lasting 10–15 min. The primary outcome measure was patient-reported pain levels, with anxiety as a key secondary outcome. Secondary outcome measures included catheterization time, heart rate, patient satisfaction with nursing procedures, and usability evaluation of the VR equipment. Results: A total of 80 pediatric patients were enrolled, with 40 in the VR group (mean age 8.05 ± 2.60 years) and 40 in the control group (mean age 8.63 ± 2.50 years). Generalized estimating equation (GEE) analysis showed a significant interaction effect between group and time for pain (Wald χ² = 7.091, p = 0.029), while no significant interaction was found for anxiety (Wald χ² = 0.971, p = 0.615). Before peripheral venous catheterization, there was no significant difference in pain and anxiety scores between the two groups of pediatric patients (p > 0.05). Patients in the VR group reported significantly reduced pain (β = −0.78; 95% CI, −1.40 to −0.15; p = 0.015) during catheterization, and overall anxiety scores were also lower in the VR group (β = −0.43; 95% CI, −0.77 to −0.08; p = 0.016), although the group by time interaction for anxiety was not significant. The intervention group also demonstrated a lower peak heart rate (107.67 ± 16.25 beats/min vs. 115.25 ± 29.53 beats/min; p = 0.047) and a shorter procedure duration [110 (100, 120) seconds vs. 120 (110, 123.5) seconds; p < 0.001]. Operator satisfaction with the nursing procedure was also significantly higher in the intervention group (95.0% vs. 72.5%, p < 0.001). Conclusions: VR significantly reduces pain and anxiety in hospitalized pediatric patients during peripheral venous catheterization. Full article

Background/Objectives: Given the growing prevalence of myopia worldwide, prevention and proactive management of at-risk children becomes increasingly important. This study sought to evaluate trends in myopia development in pediatric pre-myopic patients and determine how optometrists in Canada manage pre-myopia. Methods: In this retrospective chart review, records for children aged 6–10 years who had an eye exam between 2017 and 2021 were reviewed. Pre-myopic children were included if the presenting refraction at the first visit was between +0.75D and −0.25D (inclusive). Up to five unique patients were selected for each age (6, 7, 8, 9, and 10) and initial visit year (2017 to 2021) at each clinical site. Demographic information, refractive status and recommended interventions were recorded. Results: A total of 1740 pre-myopic patients were included across 15 practices in Ontario, of which 184 patients developed myopia (10.6%) during the years studied. Cohort year groups did not differ in baseline age (mean ± SD 8.39 ± 1.43 years) or baseline refractive error (+0.13 ± 0.27 DS). At initial encounters, most clinicians monitored without intervention (mean across cohort years 91.9%), with some recommending lifestyle changes (3.5%) and SV spectacles/CL (3.0%). This pattern remained stable over the years studied. Pre-myopic children developed myopia at a similar age over the study period (mean ± SE: 9.66 ± 0.16 years) and experienced a faster rate of loss of hyperopic reserve (loss of −0.26 ± 0.07 D/year in the 2017 cohort vs. −0.73 ± 0.18 D/year in the 2020 cohort and −0.71 ± 0.10 D/year in the 2021 cohort) regardless of patient age. Conclusions: Pre-myopic children in the 2020 and 2021 cohort years experienced an accelerated loss of hyperopic reserve compared to those in the 2017 cohort. Despite this, very few pre-myopic children were recommended lifestyle changes, which were known to be effective for delaying myopia onset. Since delaying myopia onset may be more impactful than subsequent myopia treatment, additional research should focus on effective interventions for the pre-myopic population. Full article

Background/Objectives: Approximately half of US children who meet traditional cochlear implant (CI) candidacy criteria receive an implant. As candidacy expands to include a broader range of hearing configurations, identifying factors that influence referral completion and CI uptake is increasingly important. This study examined the predictors of CI evaluation completion and surgery among children referred for CI assessment, including both traditional and non-traditional candidates. Methods: The medical records of pediatric patients referred for an initial CI evaluation from 2018 through 2024 were reviewed. Referral outcomes were categorized as evaluation not completed, candidate who declined surgery, or candidate who proceeded with surgery. Two binomial logistic regression models assessed the demographic, audiologic, and contextual predictors of CI evaluation completion and CI uptake, including age at referral, candidate type, insurance, referral year, communication mode, race/ethnicity, unaided thresholds, rurality, and county-level social health determinants. Results: The completion of the CI evaluation was significantly influenced by race/ethnicity, candidate type, referral year, and age. Mixed-race children demonstrated higher completion rates than White children. Completion was lower among children with single-sided deafness (SSD), children referred in 2022, and older children. Among children determined to be candidates, 69% proceeded with surgery. CI uptake showed similar patterns, with lower rates among Hispanic children, children with residual hearing or SSD, children referred in 2022, and older children. Conclusions: CI uptake at this center exceeded national averages but was associated with race/ethnicity, candidate type, age, and year of referral. Targeted counseling and outreach may improve timely referral and informed decision-making. Full article

Background and Objectives: This study investigated whether capillary and intravenous sampling affect acylcarnitine and amino acid profile results analyzed by tandem mass spectrometry. Methods: The study included 120 patients either diagnosed with an inherited metabolic disease or undergoing evaluation for a suspected metabolic disorder at the Department of Pediatric Nutrition and Metabolism, Selçuk University Faculty of Medicine. Paired capillary and intravenous blood samples were collected simultaneously, applied to filter paper, and analyzed by LC-MS/MS to determine acylcarnitine and amino acid profiles. Results: Significant differences were observed between capillary and intravenous samples for several acylcarnitines, including C0, C2, C8, C8.1, C10, C10.1, C14.1, C16, and C18.1 (p < 0.05). In the amino acid profile, arginine, aspartic acid, citrulline, glutamic acid, glycine, leucine + isoleucine, methionine, tyrosine, and the methionine/phenylalanine ratio differed significantly between sampling methods (p < 0.05). Despite these differences, Cohen’s kappa analysis showed high agreement between capillary and venous samples for most parameters (78.3–100%) when categorized as low, normal, or high based on reference ranges. Additionally, no significant discrepancies were found in key diagnostic parameters among patients with specific inherited metabolic diseases. Conclusions: Although certain acylcarnitine and amino acid levels differed between capillary and intravenous samples, overall diagnostic agreement was high. However, since the study group did not include any patients with fatty acid oxidation disorders, a separate confirmatory study is needed for this condition. Larger multicenter studies involving more patients and a wider range of metabolic disorders are needed to better understand the clinical impact of sampling method on dried blood spot analyses. Full article