Prophylactic Systemic Antibiotic and Systemic Glucocorticoid Therapy After Burn Inhalation Injury: A Report of Two Cases and Review of Literature.

Burn inhalation injury is a significant risk factor for mortality in burn patients. Despite the considerable progress made in the treatment of burn inhalation injury, there remains no consensus on the appropriate course of treatment, leading to ongoing controversy regarding the use of prophylactic systemic antibiotics and systemic glucocorticoids. This study presents two cases of burn inhalation injury diagnosed by fiberoptic bronchoscopy and treated with systemic glucocorticoids and prophylactic systemic antibiotics. By conducting a literature review, this study aimed to discuss the application of systemic glucocorticoids and prophylactic systemic antibiotics in patients with burn inhalation injuries. The suitability of prophylactic systemic antibiotics and systemic glucocorticoids for treating burn inhalation injury patients necessitates a comprehensive assessment of the patient's condition and an accurate judgment of the course of their disease.

ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by defects in motile ciliary function and/or structure. Outer dynein arm docking complex subunit 1 (ODAD1) is an important component of the outer dynein arm docking complex (ODA-DC). To date, 13 likely pathogenic mutations of ODAD1 have been reported. However, the pathogenesis of ODAD1 mutations remains elusive. To investigate the pathogenesis of splice-site mutations in ODAD1 discovered in this study and those reported previously, molecular and functional analyses were performed. Whole-exome sequencing revealed a compound mutation in ODAD1 (c.71-2A>C; c.598-2A>C) in a patient with PCD, with c.598-2A>C being a novel mutation that resulted in two mutant transcripts. The compound mutation in ODAD1 (c.71-2A>C; c.598-2A>C) led to aberrant splicing that resulted in the absence of the wild-type ODAD1 and defects of the outer dynein arm in ciliary axonemes, causing a decrease in ciliary beat frequency. Furthermore, we demonstrated that the truncated proteins resulting from splice-site mutations in ODAD1 could retain partial function and inhibit the interaction between wild-type ODAD1 and ODAD3. The results of this study expand the mutational and clinical spectrum of PCD, provide more evidence for genetic counseling, and offer new insights into gene-based therapeutic strategies for PCD.