Delayed diagnosed injuries in trauma patients after initial trauma assessment with a total-body computed tomography scan.

INTRODUCTION: Even when using the Advanced Trauma Life Support (ATLS) guidelines and other diagnostic protocols for the initial assessment of trauma patients, not all injuries will be diagnosed in this early stage of care. The aim of this study was to quantify how many, and assess which type of injuries were diagnosed with delay during the initial assessment of trauma patients including a total-body computed tomography (TBCT) scan in a Level 1 Trauma Center in the Netherlands. METHODS: We conducted a retrospective cohort study of 697 trauma patients who were assessed in the trauma bay of the Amsterdam University Medical Center (AUMC), using a TBCT. A delayed diagnosed injury was defined as an injury sustained during the initial trauma and not discovered nor suspected upon admission to the Intensive Care Unit (ICU) or surgical ward following the initial assessment, diagnostic studies, or during immediate surgery. A clinically significant delayed diagnosis of injury was defined as an injury requiring follow-up or further medical treatment. We aimed to identify variables associated with delayed diagnosed injuries. RESULTS: In total, 697 trauma patients with a median age of 46 years (IQR 30-61) and a median Injury Severity Score (ISS) of 16 (IQR 9-25) were included. Delayed diagnosed injuries were found in 97 patients (13.9 %), of whom 79 injuries were clinically significant (81.4 %). Forty-eight of the delayed diagnosed injuries (49.5 %) were within the TBCT field. Ten delayed diagnosed injuries had an Abbreviated Injury Scale (AIS) of ≥3. Most injuries were diagnosed before or during the tertiary survey (60.8 %). The median time of delay was 34.5 h (IQR 17.5-157.3). Variables associated with delayed diagnosed injuries were primary ICU admission (OR 1.8, p = 0.014), an ISS ≥ 16 (OR 1.6, p = 0.042), and prolonged hospitalization (40+ days) (OR 8.5, p < 0.001). CONCLUSION: With the inclusion of the TBCT during the primary assessment of trauma patients, delayed diagnosed injuries still occurs in a significant number of patients (13.9 %). Factors associated with delayed diagnosed injuries were direct admission to ICU and an ISS ≥ 16.

Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

The TMPRSS3 gene (DFNB8/10), which encodes a transmembrane serine protease, is a common hearing loss gene in several populations. Accurate functions of TMPRSS3 in the hearing pathway are still unknown, but TMPRSS3 has been reported to play a crucial role in inner ear development or maintenance. To date, 16 pathogenic mutations have been identified in many countries, but no mutational studies of the TMPRSS3 gene have been conducted in the Korean hearing loss population. In this study, we performed genetic analysis of TMPRSS3 in 40 unrelated Korean patients with autosomal recessive hearing loss to identify the aspect and frequency of TMPRSS3 gene mutations in the Korean population. A total of 22 variations were detected, including a novel variant (p.V291L) and a previously reported pathogenic mutation (p.A306T). The p.A306T mutation which has been detected in only compound heterozygous state in previous studies was identified in homozygous state for the first time in this study. Moreover, the clinical evaluation identified bilateral dilated vestibules in the patient with p.A306T mutation, and it suggested that p.A306T mutation of the TMPRSS3 gene might be associated with vestibular anomalies. In conclusion, this study investigated that only 2.5% of patients with autosomal recessive hearing loss were related to TMPRSS3 mutations suggesting low prevalence of TMPRSS3 gene in Korean hearing loss population. Also, it will provide the information of genotype-phenotype correlation to understand definite role of TMPRSS3 in the auditory system.