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OBJECTIVES: To assess the effect of the Infant intensive care unit (InICU), a specialized unit for critically ill infants established in 2016 in authors' hospital, on infant mortality and compare the outcome with the current Pediatric intensive care units (PICU). METHODS: In this retrospective cross-sectional study, two groups were defined; the first included expired patients aged 1 mo to 2 y admitted to PICU before the establishment of the InICU (the PICU group). The second included age-matched expired patients admitted to the InICU (the InICU group). Data were recorded using a questionnaire. RESULTS: The authors found that the age, sex, underlying diseases, the leading cause of admission to the ICU, time of death, hospital and ICU length of stay, and the pediatric index of mortality 2 (PIM 2) score were same between the two groups. The incidence of mortality in the PICU group was 10.66 in 1000 person-month. This value was 6.37 for the InICU group (P-value <0.001). The relative risk of mortality of patients admitted to the PICU group compared to the InICU group was 1.67 (P-value <0.001). CONCLUSIONS: Establishment of age specific InICU for infants may be beneficial in reducing infant mortality.
RESUMEN
BACKGROUND: Whole-exome sequencing (WES) provides a powerful diagnostic tool for identifying primary immunodeficiency diseases (PIDs). This study explores the utility of this approach in uncovering previously undiagnosed PIDs in children with community-acquired sepsis (CAS), with a medical history of recurrent infections or a family history of PIDs. METHODS: We performed WES on DNA samples extracted from the blood of the 34 enrolled patients, followed by bioinformatic analysis for variant calling, annotation, and prioritization. We also performed a segregation analysis in available family members to confirm the inheritance patterns and assessed the potential impact of the identified variants on protein function. RESULTS: From 34 patients enrolled in the study, 29 patients (85%) with previously undiagnosed genetic diseases, including 28 patients with PIDs and one patient with interstitial lung and liver disease, were identified. We identified two patients with severe combined immunodeficiency (SCID), patients with combined immunodeficiency (CID), six patients with combined immunodeficiency with syndromic features (CID-SF), four patients with defects in intrinsic and innate immunity, four patients with congenital defects of phagocyte function (CPDF), and six patients with the disease of immune dysregulation. Autoinflammatory disorders and predominantly antibody deficiency were diagnosed in one patient each. CONCLUSION: Our findings demonstrate the potential of WES in identifying undiagnosed PIDs in children with CAS. Implementing WES in the clinical evaluation of CAS patients with a warning sign for PIDs can aid in their timely diagnosis and potentially lead to improved patient care.