Abstract Background X-linked adrenoleukodystrophy, the most common peroxisomal disorder, is caused by ABCD1 gene mutations. This genetic disorder is characterized by the defective degradation of very long-chain fatty acids. This study aimed to assess the frequency, clinical spectrum, and molecular background of X-linked adrenoleukodystrophy among a group of Egyptian pediatric patients with clinical suspicion of peroxisomal disorder. Subjects and methods This study included 120 high-risk Egyptian children presented to Cairo University Children’s Hospital (CUCH) with the clinical suspicion of peroxisomal disorder. X-linked adrenoleukodystrophy diagnosis was confirmed by the very long-chain fatty acids testing using gas chromatography/mass spectrometry followed by sequencing of the ABCD1 gene in patients with abnormal very long-chain fatty acids results. Results 6/120(5%) patients (from 4 unrelated families) had a high level of very long-chain fatty acids. The cerebral phenotype was the most common presentation, and white matter demyelination was the most common radiological finding. Three ABCD1 gene pathogenic variants (c.293 C > T (p.Ser98Leu), c.1511T > C (p.Leu504Pro) and c.1415_1416del p.(Gln472Argfs*83)) had been detected in 5 patients and one de novo likely pathogenic variant c.1511T > C (p.Leu504Pro) had been detected in one patient. Conclusions Epidemiological studies regarding the prevalence and genetic basis of peroxisomal disorders among Egyptian children are currently scarce. In our recent study, we investigated the frequency of these disorders within a group of suspected cases.
Sickle cell disease (SCD), caused by a mutation in the β-globin gene, leads to acute hemolytic crises and chronic anemia, necessitating frequent blood transfusions. Renal involvement begins early in life and is multifactorial. Chronic kidney disease (CKD) develops in about 30
The perinatal period is a high-risk time for stroke, with possible lifelong effects. We aimed at identifying factors associated with long-term neurological outcomes and post-stroke epilepsy in patients with neonatal arterial ischemic stroke (NAIS). We analyzed patients with NAIS from the Italian Registry of Infantile Thrombosis (RITI). Associations between clinical variables and outcomes (neurological deficits and epilepsy at last follow-up) were evaluated using univariate logistic regression. Among the 181 patients included (56.2
Adolescent idiopathic scoliosis (AIS) is commonly treated with bracing, but the effectiveness of this approach depends on adherence to prescribed wear time. While previous studies suggest higher compliance among females, the influence of psychosocial and behavioral factors remains underexplored and the extent to which gender-based differences affect brace adherence over the course of treatment remains uncertain. Therefore, the aim of this study was to examine whether males and females differ in their adherence to Chêneau brace treatment. This retrospective observational study included patients with AIS treated with a Chêneau brace and followed for a standardized 24-month period, with analyses restricted to the first 24 months after brace prescription. Adherence to prescribed brace wear was assessed at routine follow-up visits, and clinical, radiographic, and behavioral variables were collected. Adherence trajectories over time were analyzed using longitudinal mixed-effects models to account for repeated measurements, and exploratory analyses evaluated the association between curve magnitude during follow-up and adherence. 62 patients were included (45 females and 17 males). The mean age at brace prescription was 13.9 ± 0.8 years in females and 14.9 ± 0.7 years in males. Adherence was significantly higher in males at all evaluated timepoints. Patients engaging in both organized sports and postural gymnastics showed the highest adherence levels (77.8
MBL-producing organisms pose a major global health threat, yet data on their epidemiology, outcomes, and treatment in children remain limited. The aims of our study were to investigate the clinical outcomes, microbiological characteristics, treatment regimens, and risk factors associated with unfavorable outcomes. A retrospective study was conducted at the Bambino Gesù Children’s Hospital in Rome (Italy) from January 2020 to December 2024 including pediatric patients with MBL-producing Enterobacterales (MBL-CRE) and MBL-producing Pseudomonas aeruginosa (MBL-CRPA) infections. Thirty-five pediatric patients were included. The median age was 2,3 years. 80
