Objective: Perform the screening of the 20 coding exons of SLC26A4 gene in Brazilian deaf individuals with EVA.

Patients and methods: Among the 23 unrelated non-syndromic hearing loss Brazilian patients with EVA, in whom no deafness-causing mutations of the

GJB2 gene, the direct sequencing was performed to screen the 20 exons and their flanking regions of the SLC26A4 gene.

Results: The sequencing results revealed 9 cases (39%) carrying 13 different SLC26A4 mutations, including 11 known mutations (279delT, V138F, T193I, IVS8+1G>A, T410M, Q413R, R409H, L445W, IVS15+5G>A, V609G, and R776C) and 2 novel mutation (G149R and P142L).

Conclusion: The SLC26A4 mutations have a high carrying rate in non-syndromic hearing loss Brazilian patients. The identification of a disease-causing mutation can be used to establish a genotypic PRIMA-1MET in vivo diagnosis and provide important information to the patients and their families. (C) 2012 Elsevier Ireland Ltd. All rights reserved.”
“Background: Diffusing capacity for carbon monoxide (D(Lco)) learn more has been regarded as reliable for detecting emphysema. The lower 5th percentile of the reference population has been used

as the lower limit of normal (LLN) for D(Lco), without clinical validation. Objectives: We performed this study to validate the LLN for D(Lco) and to determine the optimum cutoff LLN value for detecting emphysema. Methods: A total of 197 COPD patients and 103 healthy adult subjects were included. COPD patients with emphysema were defined as COPD patients in whom volumetric CT showed that the volume fraction of the lung at less than -950

Hounsfield units at full inspiration was more than 15%. All other COPD patients were defined as COPD patients without emphysema. All measured D(Lco) values were transformed to estimates of refer ence population percentiles. ROC curve analysis was used to validate and to determine the optimum cutoff percentile value as the LLN for D(Lco). Results: Of the 197 COPD patients, 126 were classified as having emphysema Selleck BI-2536 and 71 as without emphysema. On ROC curve analysis, the lower 5th percentile used as the LLN for D(Lco) had a sensitivity of 68.3% and a specificity of 98.1% to differentiate COPD patients with emphysema from healthy subjects. The lower 9th percentile was the best LLN cutoff value for detecting COPD patients with emphysema. Conclusion: The lower 5th percentile of the reference population may not be the best LLN cutoff value for D(Lco) for detecting emphysema. Copyright (C) 2010 S. Karger AG, Basel”
“Objective: To determine incidence and etiologies of craniofacial injuries in the pediatric population through comparison of injuries caused by all-terrain vehicles and golf cart trauma.

Study design: Case series with chart review.

Setting: Level 1 trauma center.