Acquired Immune Deficiency Syndrome in Differential Diagnosis of Hyper-IgE-Immunoglobulinemia: Pediatric Case Report.

Acquired immune deficiency syndrome can be encountered with hypereosinophilia and hyperimmunoglobulin E (hyper-IgE) values, though these levels are rarely so high to be compared with hyperimmunoglobulin E syndrome. A 9-year-old boy presented with the complaint of fatigue, weakness, weight loss and generalized pruritic rash lasting for a year. He had frequent respiratory tract infections, wheezing episodes and urticarial skin lesions before that. On admission, he was cachectic and he had generalized lymphadenopathy, hepatosplenomegaly, oral moniliasis and pruritic rash all over his body. Laboratory evaluation revealed marked lymphopenia and hypergammaglobulinemia with extremely high IgE values (IgE: 59 300 kU/l). He was diagnosed with stage 4 human immunodeficiency virus (HIV) infection and started on antiretroviral treatment. In conclusion, HIV infection can be presented with increased IgE values.

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Introduction: Rare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting. Methods: Ten infants were enrolled based on predefined inclusion criteria, and trio RGS was performed. The mean age of the participants was 124 days, with congenital abnormalities being the most common indication for testing. Three patients had consanguineous parents. The mean turnaround time from enrollment to delivery of results was 169 h, with a diagnostic yield of 50%. Results: Three patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses. Discussion: This study demonstrates the feasibility and results of RGS in Turkish hospital settings, emphasizing the importance of timely genetic diagnosis in reducing the diagnostic odyssey for families and improving patient care. Further research is needed to evaluate the cost-effectiveness and applicability of RGS in the Turkish healthcare system for children with diseases of uncertain etiology.

Assessment of the Clinical Course of Human Rhinovirus/Enterovirus Infections in Pediatric Intensive Care.

BACKGROUND: This study aims to evaluate the clinical course of human rhinovirus/enterovirus (HRV/EV) infections in the pediatric intensive care unit. METHODS: The study was conducted as a multicenter, prospective observational study from September 2022 to December 2022. Cases with positive polymerase chain reaction testing for HRV/EV of nasopharyngeal swab samples within the first 24 hours of pediatric intensive care unit admission were recorded. There were 2 groups: 1-24 months and >24 months. RESULTS: A total of 75 cases (39 male) were included in the study. The median age for all cases was 21 months. The highest polymerase chain reaction positivity rates were observed in October (37.33%). Among the cases, 32 (42.67%) presented with bronchopneumonia/pneumonia, 24 (32%) presented with acute bronchiolitis/bronchitis and 7 (9.33%) presented with sepsis/septic shock. The frequency of pediatric acute respiratory distress syndrome was found to be 6.67%. In the age group of 1-24 months, mean lymphocyte and liver enzyme levels were higher, while in the age group of >24 months, mean hemoglobin and mean kidney function test levels were higher ( P ≤ 0.05). Continuous oxygen therapy was provided to 65.3% of the cases, noninvasive ventilation to 33.3%, high-flow nasal cannula-oxygen therapy to 32% and invasive mechanical ventilation to 16%. CONCLUSIONS: HRV/EV infections primarily affect the respiratory system and generally exhibit a clinical course with low mortality rates (1, 1.3%). In cases with underlying chronic diseases, more severe clinical conditions such as pediatric acute respiratory distress syndrome and septic shock may occur.