Aldona Ząber

Introduction: Selective immunoglobulin A deficiency is the most common primary immunodeficiency. It is defined as a serum immunoglobulin A concentration <7 mg/dL in individuals older than four years, with normal immunoglobulin G and immunoglobulin M levels. Its clinical presentation is heterogeneous, ranging from asymptomatic cases to recurrent infections, allergic diseases, and autoimmune disorders. Data regarding the Polish paediatric population remain limited. Objective: To characterise the clinical and immunological features of children with selective immunoglobulin A deficiency hospitalised in a single centre, with particular emphasis on the frequency of recurrent infections, allergic manifestations, and selected immunological parameters. Materials and methods: A retrospective analysis of medical records from 3,063 patients hospitalised in a paediatric department was performed. Selective immunoglobulin A deficiency was identified in 22 children aged 4–14 years (median age 6 years; 11 boys and 11 girls). Clinical data and serum concentrations of immunoglobulin G, immunoglobulin M, immunoglobulin E, and complement components (C3, C4) were evaluated. Results: Clinical symptoms were present in 20/22 patients (90.9%). Recurrent infections and allergic manifestations were equally prevalent (14/22; 63.6%), and upper respiratory tract infections occurred in 10/22 (45.5%). Immunoglobulin M deficiency was found in 4/22 (18.2%), and elevated immunoglobulin E levels in 6/22 (27.3%). Serum immunoglobulin G concentrations were significantly higher in children with selective immunoglobulin A deficiency compared with the reference group [median 1,290 (IQR 1,1140–1,482) vs. 1,020 (IQR 872–1,180) mg/dL; p = 0.004]. Conclusions: The phenotype of selective immunoglobulin A deficiency in the studied children was characterised by the coexistence of recurrent respiratory tract infections and allergic manifestations. These findings suggest the presence of complex disturbances of mucosal immunity and immune dysregulation in the course of this condition.

Acute pancreatitis is one of the most common gastroenterological diseases. The diagnosis of acute pancreatitis requires the presence of at least two of the following criteria: a typical clinical presentation, serum lipase and/or amylase levels exceeding three times the upper limit of normal, or imaging studies characteristic of acute pancreatitis. Numerous conditions may contribute to the development of acute pancreatitis, the most common being chronic alcohol abuse and cholelithiasis (gallstones). Rare causes of acute pancreatitis include, among others, hypercalcaemia. This article presents the case of a woman with recurrent episodes of acute pancreatitis caused by hypercalcaemia (peak serum calcium level: 13.3 mg/dL; peak serum parathyroid hormone level: 416 pg/mL), who was ultimately diagnosed with a parathyroid adenoma. The diagnostic workup and treatment are also described. Appropriate management of patients with acute pancreatitis requires an understanding of the disease aetiology.

Introduction: Chronic rhinosinusitis in children represents a significant clinical challenge. Imaging-based diagnosis relies primarily on descriptive assessment of computed tomography scans and simplified scoring systems that do not account for the actual volume of inflammatory lesions. A more quantitative analysis of sinus involvement could improve diagnostic accuracy and reduce interobserver variability. Objective: The aim of this study was to develop a machine learning algorithm for the automated quantitative assessment of maxillary sinus volume and inflammatory involvement in children based on computed tomography scans. Materials and methods: The study includes 92 computed tomography scans of the paranasal sinuses obtained from paediatric patients, with the maxillary sinuses manually annotated by human experts. A three-dimensional convolutional neural network was developed for sinus segmentation. Based on the segmentation results, sinus volume and the percentage of sinus involvement by inflammatory changes were calculated. Results: The algorithm demonstrates high segmentation performance, achieving mean sensitivity, precision, and Dice coefficient values of nearly 90%. The root-mean-square error for estimation of sinus volume and inflammatory involvement is 0.4 cm3 and 1.3 percentage points, respectively. Conclusions: The proposed approach enables rapid and precise assessment of maxillary sinus volume and the extent of inflammatory involvement in paediatric computed tomography examinations. It may serve as a valuable tool supporting clinical decision-making in the diagnosis and longitudinal monitoring of chronic rhinosinusitis in children.

Facial nerve palsy has a heterogeneous aetiology. One of the rare causes of recurrent seventh cranial nerve palsy is Melkersson–Rosenthal syndrome, which is diagnosed primarily on the basis of its characteristic clinical presentation. This paper presents the case of a 17-year-old female patient hospitalised with right-sided peripheral facial nerve palsy. Physical examination, in addition to features of seventh cranial nerve palsy, revealed characteristic fissuring of the tongue. The medical history further indicated a previous episode of contralateral facial nerve palsy and recurrent self-limiting episodes of facial oedema. Extended laboratory and imaging diagnostics excluded infectious, neoplastic, autoimmune, and traumatic aetiologies. Based on the fulfilment of the diagnostic criteria, Melkersson–Rosenthal syndrome was diagnosed. Systemic glucocorticosteroid therapy, supportive treatment, and intensive rehabilitation were initiated, resulting in partial improvement in neurological status.

Introduction and objective: Alpha-1-antitrypsin deficiency is a common inherited metabolic disorder. Deficiency of this serine protease inhibitor predisposes to progressive tissue damage, primarily affecting the lungs and liver. In children, the clinical presentation is heterogeneous and may extend beyond classical organ involvement. The aim of this study was to assess the relationship between serum alpha-1-antitrypsin levels and individual clinical manifestations in children with confirmed alpha-1-antitrypsin deficiency. Materials and methods: A retrospective analysis of medical records was performed in 18 patients (nine girls, nine boys) aged 1–17 years. In all cases, serum alpha-1-antitrypsin concentration was measured, and SERPINA1 genotyping was performed. Clinical data, liver enzyme activity (aspartate aminotransferase, alanine aminotransferase), and family history were analysed. Results: The PIMZ genotype was identified in 94.4% and the PISZ genotype in 5.6% of patients. The median serum alpha-1-antitrypsin concentration was 79.0 mg/dL (range 61–96 mg/dL). The most common clinical features in the study group were recurrent respiratory tract infections (72.2%), inhalant allergy (61.1%), recurrent otitis media (38.9%), and food allergy (33.3%). Hepatic manifestations were observed in 27.8% of patients, and asthma in 22.2%. Lower alpha-1-antitrypsin levels correlated with early-onset asthma (67.5 vs. 80.0 mg/dL; p = 0.017). A positive family history was reported in seven patients (38.9%). Conclusions: Alpha-1-antitrypsin deficiency in children is characterised by a heterogeneous clinical presentation, with predominant respiratory and hepatic involvement. It should therefore be considered in the differential diagnosis of children presenting with atypical or recurrent respiratory or hepatic disorders. Although atopic conditions were frequently observed, their relationship with alpha-1-antitrypsin deficiency remains unclear and warrants further investigation.

Vomiting in children is a common yet nonspecific clinical symptom with a broad aetiological spectrum, encompassing both benign conditions and rare metabolic disorders. This paper presents the case of a 21-month-old girl with recurrent episodes of vomiting, in whom dicarboxylic aciduria was ultimately diagnosed after extensive differential evaluation. The most common gastroenterological, allergic, and neurological causes were excluded. Metabolic investigations proved crucial, particularly urinary organic acid analysis using gas chromatography–mass spectrometry, which demonstrated the presence of dicarboxylic acids. The case highlights the importance of a broad differential diagnostic approach in children with recurrent vomiting. Early recognition of metabolic disorders enables appropriate patient monitoring and helps prevent potential complications.

Introduction: Influenza remains a significant public health concern in the paediatric population, contributing to substantial morbidity, risk of complications, and burden on healthcare systems both globally and nationally. In Poland, between several hundred thousand and several million influenza cases are reported annually, with a considerable proportion occurring among preschool- and school-aged children. Objective: To analyse the incidence, clinical course, and selected laboratory parameters in children diagnosed with influenza in 2024 at the Department of Paediatrics, Paediatric Nephrology and Allergology, Military Institute of Medicine, Warsaw, Poland. Materials and methods: A retrospective analysis was conducted on medical records of 166 children aged 6 months to 16 years with laboratory-confirmed influenza. Demographic characteristics, viral type, clinical course, vaccination status, laboratory findings, treatment setting, and therapeutic management were assessed. Results: The most frequently affected group comprised preschool-aged children (median age: 4 years; interquartile range, IQR: 2.0– 7.0). Influenza type A was the predominant etiological agent (74.1%). Most infections occurred during the winter season (70.5% of cases). Hospitalisation was required in 7.8% of patients, primarily due to persistent fever unresponsive to antipyretic treatment. Household transmission was reported in 19.3% of cases. Influenza vaccination was documented in 18.1% of children. Antibiotic therapy was administered to 15.1% of patients. Conclusions: Influenza in 2024 was characterised was characterised by typical seasonality and a predominance of influenza type A virus. Low vaccination coverage among children contributed to viral transmission, increased incidence, and hospitalisations. The findings highlight the need to intensify educational efforts promoting vaccination as a key preventive strategy.

Atopic dermatitis (AD) is the most common inflammatory skin disease in the pediatric population. In recent years, the role of microRNAs in inflammatory and immunological mechanisms as specific biomarkers of AD has received growing attention. The aim of the present study was a quantitative assessment of serum expression levels of miR-100, miR-224 and miR-155 in children with AD compared with healthy peers, and an analysis of their potential associations with clinical disease phenotype, severity of skin lesions (SCORAD), cytokine profile, immunological parameters and the presence of concomitant allergic diseases. The study included 12 children with AD and 9 healthy children. Selected miRNAs were isolated from serum, followed by reverse transcription using universal primers and quantification by qRT-PCR. Children with AD exhibited significantly higher expression levels of miR-155 compared with controls (p = 0.003). No statistically significant differences were observed for miR-100 and miR-224. miR-100 expression was significantly higher in children with a positive history of inhalant allergy compared with those without such a diagnosis (p = 0.014). A positive correlation was observed between miR-100 levels and the percentage of eosinophils (r = 0.599; p = 0.052) as well as absolute eosinophil count (r = 0.600; p = 0.051). MiR-155 is significantly upregulated in children with AD suggesting it as a candidate biomarker worthy of further investigation in larger cohorts. Although miR-100 did not differentiate the groups, its correlation with eosinophilia and inhalant allergy suggests a role in disease phenotyping.

Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by eczematous lesions and recurrent pruritus. The pathogenesis of AD involves epidermal barrier impairments, immune dysfunction, and both genetic and environmental factors. This review presents the latest findings regarding the involvement of microRNA (miRNA) molecules in AD pathogenesis and their potential application as diagnostic biomarkers and therapeutic targets. The following miRNAs were analyzed in detail: miR-223, miR-10a-5p, miR-29b, miR-146a-5p, miR-451a, miR-124, miR-143, miR-151a, miR-24, miR-191, and miR-155. Their molecular mechanisms and potential clinical implications are discussed. Understanding the role of specific microRNAs in AD pathogenesis may contribute to the development of new diagnostic and therapeutic strategies for this disease.

Introduction and objective: Nowadays, the use of electronic devices has become an integral part of daily life. The consequence of this is both a prolonged state of constant alertness due to emerging notifications and exposure to blue light emitted by phones, tablets and laptops. The purpose...