Search Results (18,823)

Congenital absence of the pericardium (CAP) is an unusual condition discovered, in most cases, incidentally but can potentially lead to fatal complications, including severe arrhythmias and sudden death. Recently, the use of modern imaging technologies has increased the diagnosis of CAP, providing important findings for risk stratification. Nevertheless, there is not yet consensus regarding therapeutic decisions, and the management of patients with CAP remains challenging. In this paper, we discuss the pathophysiological implication of CAP, review the current literature and explain the role of multimodality imaging tools for its diagnosis, management and treatment. Full article

Treatment of fatty acid oxidation disorders is based on dietary, pharmacological and metabolic decompensation measures. It is essential to provide the patient with sufficient glucose to prevent lipolysis and to avoid the use of fatty acids as fuel as far as possible. Dietary management consists of preventing periods of fasting and restricting fat intake by increasing carbohydrate intake, while maintaining an adequate and uninterrupted caloric intake. In long-chain deficits, long-chain triglyceride restriction should be 10% of total energy, with linoleic acid and linolenic acid intake of 3–4% and 0.5–1% (5/1–10/1 ratio), with medium-chain triglyceride supplementation at 10–25% of total energy (total MCT+LCT ratio = 20–35%). Trihepatnoin is a new therapeutic option with a good safety and efficacy profile. Patients at risk of rhabdomyolysis should ingest MCT or carbohydrates or a combination of both 20 min before exercise. In medium- and short-chain deficits, dietary modifications are not advised (except during exacerbations), with MCT contraindicated and slow sugars recommended 20 min before any significant physical exertion. Parents should be alerted to the need to increase the amount and frequency of carbohydrate intake in stressful situations. The main measure in emergency hospital treatment is the administration of IV glucose. The use of carnitine remains controversial and new therapeutic options are under investigation. Full article

A 2.5-month-old girl admitted for failure to thrive and severe pancytopenia was diagnosed with methylmalonic acidemia (MMA) secondary to transcobalamin II deficiency, an inborn error of vitamin B12 metabolism. Opportunistic Cytomegalovirus and Pneumocystis jirovecii pneumonia led to severe acute respiratory distress syndrome (ARDS) and immune reconstitution inflammatory syndrome (IRIS) after treatment initiation with vitamin B12 supplementation. In children with interstitial pneumonia-related ARDS, normal lymphocyte count should not delay invasive procedures required to document opportunistic infections. MMA can be associated with underlying lymphocyte dysfunction and vitamin B12 supplementation can fully reverse the associated immunodeficiency. IRIS may appear in highly treatment-responsive forms of pancytopenia in children and prompt treatment of dysregulated inflammation with high-dose corticosteroids should be initiated. Full article

Congenital or acquired hand differences, including unilateral below-elbow deficiencies, present complex challenges in pediatric rehabilitation. Surgical management and prosthetic provision represent a big challenge to find a good balance for guaranteeing optimal hand function. There is no specific assessment tool for measuring these aspects in the Italian context. The present study investigates the psychometric properties of the ABILHAND-Kids in children with congenital unilateral below-elbow deficiencies and acquired amputation of the upper limb. We measure internal consistency using Cronbach coefficient alpha and the intraclass correlation coefficient (ICC) for measuring test-retest reliability. Differences in hand function in both children with acquired or congenital diseases were also investigated. Participants to the study were 107 (49 F and 58 M) children, with a mean (SD) age of 8.88 (4.25). For test retest reliability, conducted on a sub-sample of 58 children, the ICC was 0.92, while for internal consistency, the Cronbach coefficient alpha was 0.90. We did not find statistically significant differences in scoring (p = 0.33) in the use (mean 29.25 SD 6.58) or non-use of a prosthetic device (mean 30.74 SD 7.43), while statistically significant differences were found in hand function (p < 0.01) for children who had a congenital impairment (mean 31.87 SD 6.49) and children who had an acquired amputation (mean 27.77 SD 6.60). In conclusion, the ABILHAND-Kids showed good internal consistency and reliability and can capture differences in hand function in children with both congenital and acquired hand disorders. Full article

Background/Objectives: The aim of the present study was to develop a clinical–ultrasound model for early detection of hospital admission, pediatric intensive care unit (PICU) admission, and oxygen requirement in children diagnosed with acute bronchiolitis (AB). Furthermore, the prognostic ability of models including sonographic data from antero-lateral, lateral-posterior, and posterior areas (eight zones) vs. antero-lateral and lateral-posterior areas (six zones) vs. only antero-lateral areas (four zones) was analyzed. Methods: A prospective study was conducted on infants under 12 months with AB. A lung ultrasound (LUS) was performed within 24 h of hospital care and analyzed using the Lung Ultrasound Combined Score (LUCS) based on the ultrasound patterns and their extent. Regression models combining LUCS (using eight, six, or four lung areas) with age and clinical scale were created. Results: A total of 90 patients were included (62 admitted to the ward, 15 to PICU), with a median age of 3.7 months. Clinical–ultrasound models with eight and six lung zones predicted hospital admission (AUC 0.89), need for oxygen therapy (AUC 0.88), and its duration (40% explanatory capacity). Models using four lung areas had lower prognostic yield. No model predicted PICU admission needs or duration. Conclusions: The ultrasound pattern and its extension combined with clinical information may be useful to predict hospital admission and oxygen requirement. Full article

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare lysosomal disease caused by congenital enzymatic deficiencies in heparan sulfate (HS) degradation, leading to organ dysfunction. The most severe hallmark of MPS III comprises neurological alterations, although gastrointestinal symptoms (GISs) have also been shown to be relevant in many patients. Here, we explored the contribution of the gut microbiota to MPS III GISs. We analyzed the composition and functionality of the gut microbiota in two MPS III siblings with the same mutation (c.544C > T, c.1080delC, in the SGSH gene) and the same diet, but with differences in their GISs, including recurrent diarrhea in one of them. Using 16S sequencing, we observed that the MPS III patients exhibited decreased alpha diversity and a lower abundance of Lachnospiraceae and Bifidobacteriaceae accompanied by a higher abundance of the Ruminococcaceae and Rikenellaceae families than the healthy control subjects. Comparing siblings, we found an increased abundance of Bacteroidaceae and a lower abundance of Ruminococcaceae and Akkermansiaceae in the GIS-free patient. This patient also had a higher relative abundance of Sus genes (SusA, SusB, SusE, and SusG) involved in glycosaminoglycan metabolism. We found higher HS levels in the stool of the two MPS III patients than in healthy volunteers, particularly in the patient with GISs. Functionally, whole fecal metabolites from the patient with GISs induced oxidative stress in vitro in healthy monocytes. Finally, the Bacteroides thetaiotaomicron strain isolated from MPS III stool samples exhibited HS degradation ability. Overall, our results reveal different microbiota compositions and functionalities in MPS III siblings, who exhibited differential gastrointestinal symptomatology. Our study may serve as a gateway to explore the impact of the gut microbiota and its potential to enhance the quality of life in Sanfilippo syndrome patients. Full article

Fish oil, renowned for its high content of omega-3 fatty acids, particularly eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), has gained considerable attention for its potential health benefits. EPA and DHA exhibit anti-inflammatory effects by promoting the production of specialized pro-resolving mediators (SPMs), such as resolvins and protectins. Fish oil has been studied for its potential to reduce bronchial inflammation, a key feature of respiratory conditions like asthma and COPD. This study investigates the cellular mechanisms of fish oil in an in vitro model of lung inflammation using lipopolysaccharide (LPS) on a healthy human bronchial epithelium cell line. LPS exposure for 24 h reduced cell viability, elevated reactive oxygen species (ROS), depleted glutathione (GSH), and induced mitochondrial depolarization, indicating oxidative stress and inflammation. Fish oil administration significantly mitigated ROS production, prevented GSH depletion, and reduced mitochondrial depolarization. This was associated with the upregulation of the endogenous antioxidant system, evidenced by restored GSH levels and the increased gene expression of glutathione peroxidase (GPX), catalase (CAT), superoxide dismutase 1 (SOD1), and superoxide dismutase 2 (SOD2). Fish oil also suppressed IL-6 and IL-1β expression and increased anti-inflammatory cytokine IL-10 expression. Furthermore, fish oil upregulated the expression of pro-resolving mediator receptors, suggesting a role in inflammation resolution. These findings highlight the potential of fish oil supplementation as a preventive measure against pulmonary diseases characterized by unresolved inflammation such as lung inflammation. Full article

Background: SmartAction-VR uses virtual reality to simulate daily life tasks and assess cognitive performance based on the multi-errand paradigm. This study explored whether this new task could provide insights into the executive functioning of children and adolescents with ADHD in their everyday activities. Methods: A cross-sectional study was conducted between November 2021 and December 2022. It consisted of one session and was divided into two parts (cognitive tests; and SmartAction-VR). The sample comprised 76 children and adolescents with a median age (IQR) of 13 (11–14) years and an age range of 9–17 years. Of these participants, 60.50% (n = 46) were males. Out of this sample, 40 participants were in the ADHD group and 36 were in the neurotypical group. The following instruments were used: Waisman Activities of Daily Living Scale, Assessment of Sensory Processing and Executive Functioning, Pediatric Simulator Disease Questionnaire, Digit span subtest, Stroop test, NEPSY-II Subtest of Auditory Attention and Cognitive Flexibility, Trail Making Test, Zoo Map Test, and SmartAction-VR. Results: The ADHD group demonstrated lower accuracy (U = 406, p = 0.010), higher values for total errors (U = 292, p = 0.001), more commissions (U = 417, p = 0.003), new actions (U = 470, p = 0.014), and forgetting actions (U = 406, p = 0.010), as well as fewer perseverations compared to the neurotypical group (U = 540.5, p = 0.029). Additionally, participants who forgot more actions were found to have lower independence in daily life (r = −0.281, p = 0.024). Conclusions: The correlations between the results of SmartAction-VR and activities of daily living, as well as cognitive tests, suggest that this new task could be useful for evaluating executive functioning in daily life. Full article

Background: One of the main drawbacks of tunneled central venous catheters (CVCs) is catheter-related bloodstream infections (CRBSIs). Antibiotic lock therapy (ALT) can be combined with systemic antibiotics to achieve catheter salvage. Our objectives are to describe cases of CRBSI and our experience with ALT in a pediatric oncology–hematology ward. Methods: a retrospective descriptive study of pediatric CRBSI cases in a Spanish oncology–hematology unit from 2007 to 2017 was conducted. We collected demographic, clinical, and microbiological data from all patients. Results: fifty-eight CRBSIs were diagnosed in thirty-nine patients; 72.9% of these patients were male, with a median age of 42.1 months. The main underlying diseases were leukemia/lymphoma (51.7%) and solid tumors (32.7%). Thirty-five (60.3%) CRBSIs were caused by Gram-positive cocci, of which 70.6% were coagulase-negative Staphylococci, and sixteen (27.6%) were caused by Gram-negative bacilli. We treated 41/58 (71%) cases with ALT. A total of 12/17 (71%) CVCs that were not treated with adjunctive ALT were removed, compared with 13/41 (32%) that were treated with ALT (relative risk (RR), 0.449; confidence interval (CI), 95%: 0.259–0.778, p = 0.004). Major reasons to remove the CVC in the CRBSI-ALT group were local insertion/pocket site infection (23%), persistent symptoms (23%), and infectious’ relapses (15%). Conclusions: ALT was shown to be an effective approach to keeping the CVC in place, with no added adverse effects. Full article

Obstructive Sleep Apnea (OSA) is a common disorder affecting both adults and children. It is characterized by repeated episodes of apnea (stopped breathing) and hypopnea (reduced breathing), which result in intermittent hypoxia. We recognize pediatric and adult OSA, and this paper focuses on pediatric OSA. While adults often suffer from daytime sleepiness, children are more likely to develop behavioral abnormalities. Early diagnosis and treatment are important to prevent negative effects on children’s development. Without the treatment, children may be at increased risk of developing high blood pressure or other heart problems. The gold standard for OSA diagnosis is the polysomnography (sleep study) PSG performed at a sleep center. Not only is it an expensive procedure, but it can also be very stressful, especially for children. Patients have to stay at the sleep center during the night. Therefore, screening tools are very important. Multiple studies have shown that OSA screening tools can be based on facial anatomical landmarks. Anatomical landmarks are landmarks located at specific anatomical locations. For the purpose of the screening tool, a specific list of anatomical locations needs to be identified. We are presenting a survey study of the automatic identification of these landmarks on 3D scans of the patient’s head. We are considering and comparing both knowledge-based and AI-based identification techniques, with a focus on the development of the automatic OSA screening tool. Full article

Background: Audiovestibular disorders in childhood occur with considerable frequency. However, the difficulty of obtaining medical history, the nonspecificity of symptoms, and the lack of cooperation during complementary tests often contribute significantly to diagnostic biases, attributing clinical presentations to psychosomatic disorders. The objectives of this work are, firstly, to characterize, from an auditory and vestibular perspective, the most frequent causes of vertigo in childhood and a possible relationship with emotional symptoms. On the other hand, to propose the usefulness of the MSSQ-Short questionnaire as a predictive variable in the evolution of children diagnosed with recurrent vertigo of childhood (RVC). Methods: An observational cross-sectional study was designed with retrospective data collection at three tertiary hospitals. Results: Among the 117 patients recruited between 2016 and 2024, 32 patients (27.35%) were diagnosed with an anxious-depressive syndrome prior to audiovestibular testing. The mean age was 11.19 ± 5.61 years and the most frequent final diagnoses were vestibular migraine (VM) with 41.03% and RVC with 23.93%. Patients with VM, compared with RVC, are approximately 1.12 times more likely to have psychosomatic pathology (CI 0.39 to 3.25). The most sensitive and frequently altered test was VEMPS (39.32%), with statistical significance in VM and otic capsule dehiscence, while regarding the MSSQ-Short questionnaire, the linear regression of 0.28 indicates an increase in clinical duration with high questionnaire scores. Conclusions: Vestibular disorders causing dizziness and vertigo are challenging to diagnose, often due to lack of cooperation and/or symptom nonspecificity. A thorough medical history and complementary tests, including audiovestibular and imaging studies, are advisable, thus avoiding systematically attributing children’s complaints to other psychosomatic disorders. Full article

Objectives: This study’s objectives were to explore the potential of wideband acoustic immittance (WAI) as a diagnostic tool, examining its accuracy and efficiency in pediatric audiology. Methods: A narrative review of the contemporary literature was conducted, focusing on studies that assessed the use of WAI in diagnosing pediatric auditory conditions. Key variables such as diagnostic accuracy, efficiency, and clinical outcomes were considered. Results: This review highlighted that WAI offers a broader range of test frequencies and more comprehensive diagnostic information compared with traditional tympanometry. The studies indicated that WAI has the potential to improve diagnostic accuracy and efficiency in pediatric audiology. Distinct patterns of wideband absorbance were identified, enabling more detailed and accurate diagnostic evaluations. Conclusions: WAI shows substantial potential as a diagnostic tool in pediatric audiology, offering improvements in diagnostic accuracy and efficiency over traditional methods. While the initial findings are promising, further research is needed to fully understand its applicability and benefits across different pediatric populations. Future studies should aim to validate the clinical utility of WAI to ensure its widespread adoption in pediatric audiological assessments. Full article

Background: Recent studies suggest a potential role for vitamin A supplementation in improving periodontal health, though evidence remains inconclusive. This systematic review and meta-analysis aimed to evaluate the protective role of vitamin A supplementation on periodontal health, focusing on outcomes such as gingival inflammation, pocket depth reduction, and alveolar bone preservation. Methods: A literature search was conducted in PubMed, Scopus, and Web of Science up until May 2024, adhering to strict inclusion criteria that required studies to involve human participants diagnosed with periodontal diseases and to assess the impact of vitamin A through dietary intake or supplementation. This review excluded studies not explicitly focused on vitamin A and those lacking clear, quantifiable outcomes. The risk of bias was assessed using the Newcastle–Ottawa Scale for observational studies and the Cochrane Collaboration’s tool for randomized controlled trials. Meta-analysis was performed to synthesize data and quantify the effectiveness of vitamin A on periodontal health outcomes. Results: A total of six studies were included in the final analysis with a total of 50,722 participants. The meta-analysis revealed a pooled odds ratio (OR) of 0.97 (95% CI: 0.94–1.00) for the association between vitamin A supplementation and periodontal health, indicating a slight protective effect. Notably, two high-quality studies reported ORs of 0.92 (95% CI: 0.85–1.00) and 0.83 (95% CI: 0.69–1.00), respectively, suggesting a potential reduction in periodontal disease risk with sufficient vitamin A levels. However, high heterogeneity (I² = 86.93%) across studies indicates variability in outcomes, possibly influenced by demographic and lifestyle factors. Conclusions: Vitamin A supplementation may offer a marginal protective effect against periodontal disease, although results vary significantly across different populations and study designs. Further research is needed to clarify these relationships and to explore the mechanisms through which vitamin A influences periodontal health, considering the high degree of observed heterogeneity. Full article

Body composition assessments using air displacement plethysmography (ADP, PEAPOD^®) have been introduced into clinical practice at a few neonatal units. To allow accurate body composition assessments in term and preterm infants, a workflow for routine testing is needed. The aim of this study was to analyze the feasibility of weekly routine ADP testing. We analyzed (1) postnatal ages at first ADP assessment, (2) the number of weekly routine in-hospital assessments, and (3) the workload of body composition measurements using ADP in clinical practice on the basis of an retrospective analysis of our own clinical operating procedures. The retrospective analysis of weekly routine ADP testing proved feasible at Nuremberg Children’s Hospital. The analysis of postnatal age at the first ADP test revealed differences across groups, with extremely preterm infants starting at a mean postmenstrual age of 36.6 weeks, very preterm infants starting at 34.2 weeks, and moderate to late preterm infants starting at 35.3 weeks. The mean number of tests before discharge was significantly greater in the extremely preterm group (n = 3.0) than in the very preterm (n = 2.4) and moderate to late preterm groups (n = 1.7). The workload of the procedure is reasonable, at 8–13 min per test cycle. The study proved that weekly routine ADP assessments in preterm infants are feasible. However, the initiation of routine testing in extremely preterm infants starts at a significantly greater postnatal age than in the more mature population. ADP assessments can be safely and easily integrated into clinical practice and may be valuable tools for providing additional information on nutritional status and infant growth. A standardized routine protocol allowing identical measurement conditions across healthcare institutions and a standardized interpretation tool for age-adapted body composition data, however, would improve comparability and usability. Full article

(1) Background: Food allergy (FA) is an immune-mediated hypersensitivity to foods, significantly contributing to childhood morbidity and mortality. This study aimed to assess the prevalence, characteristics, and influencing factors of parent-reported FAs among children in Saudi Arabia. (2) Methods: This cross-sectional study utilized a validated parental questionnaire distributed across all regions of Saudi Arabia. Data from 2130 participants were collected and analyzed using SPSS v. 26 and Prism software v. 10.3.0. (3) Results: Parent-reported FA prevalence was 15.2%. Egg was the most common allergen (6.2%), followed by tree nuts (4.1%), peanuts (4.0%), milk (3.8%), and sesame (3.2%). Significant geographical variations were observed, with the western region having the highest burden (p < 0.001). Older children had higher rates of shellfish and fish allergies. Parental allergies and co-existing asthma/drug allergies were positively associated with childhood FAs. (4) Conclusions: This study highlights a substantial burden of parent-reported FAs in Saudi Arabia, with regional variations in food allergen distribution. Parental allergies and co-existing allergic conditions may influence FA risk. Full article