Aim: This study aimed to determine the effect of adding nebulized magnesium sulfate to standard treatment in children with moderate to severe acute asthma attacks. Methods: Pediatric patients admitted to the emergency department with moderate to severe asthma attacks were included in the study. The patients were divided into two groups. Group S has taken standard treatment, while Group M has taken nebulized magnesium sulfate in addition to standard therapy. Results: A total of 129 patients were included in the study, 86 (66.7%) were male, and the median age was 4 (2-8) years. When groups were compared, oxygen saturation at the 1st hour was higher (p = 0.024), and the PRAM (preschool respiratory assessment measure) scores at the 4th hour were lower (p = 0.008) in the group that received magnesium sulfate. The groups had no differences regarding any of the other parameters at the 1st and 4th hours (p> 0.05). Conclusion: Adding nebulized magnesium sulfate to standard treatment in children with asthma attacks improves oxygen saturation faster and positively affects PRAM score at the 4th hour.

Papillon–Lefèvre syndrome is a rare inherited disorder classically associated with palmoplantar keratoderma and early severe periodontitis, but its clinical presentation may be broader than expected. We report four molecularly confirmed cases from two unrelated families carrying two different homozygous CTSC variants. The first index patient presented with a large iliopsoas abscess as the initial manifestation of the disease, while her monozygotic twin was diagnosed through family screening and had only mild skin and dental findings. In the second family, a 13-year-old boy had recurrent soft-tissue abscesses and palmoplantar lesions whose diagnosis was delayed for many years by a psoriasis-like presentation; his younger brother was later identified through cascade screening with a skin-limited phenotype. These cases show that PLS may present with deep infections, prolonged diagnostic delay, or mild unrecognized disease. Early molecular testing, careful dental and dermatological assessment, multifocal imaging, and systematic family screening are essential for timely diagnosis and appropriate care.

Sirenomelia is a rare congenital structural anomaly characterized by developmental disorders of the caudal region. Abnormalities observed in sirenomelia constitute the most severe form of caudal regression syndrome (CRS). It can be diagnosed by antenatal ultrasonography. The present study aimed to discuss a case with sirenomelia born from a mother with a history of gestational diabetes mellitus (GDM) and hypothyroidism. The present study is the first case report in the literature in which maternal hypothyroidism and sirenomelia were found simultaneously.

Deficiency of dedicator of cytokinesis 8 (DOCK8) is a combined immunodeficiency characterized by severe atopic dermatitis, recurrent infections, and elevated serum immunoglobulin E (IgE) levels. Following genetic confirmation, early hematopoietic stem cell transplantation (HSCT) is the treatment of choice. We report a 7-year-old girl who presented with refractory atopic dermatitis and recurrent sinopulmonary infections. Laboratory evaluation revealed markedly elevated total IgE, lymphopenia, decreased memory B cells, and poor vaccine responses. Whole exome sequencing identified a previously unreported homozygous nonsense mutation in the DOCK8 gene (c.5382C>A; p.Tyr1794*). Functional validation was achieved through flow cytometry, which demonstrated significantly reduced DOCK8 protein expression. The patient underwent successful HSCT from a fully matched (10/10) HLA-compatible donor following conditioning with fludarabine and treosulfan. At 1 year follow-up, full donor chimerism was achieved, and the patient remained in remission. This case highlights a novel pathogenic variant in DOCK8 deficiency and demonstrates curative success following definitive diagnosis and timely HSCT.