Results: Using conventional reference values, mean DL(CO) and V A were lower (-6%, p < 0.05, and -13%, p < 0.001, respectively), and K(CO) was higher (+9%, p < 0.05) in obese patients than in controls. VA decreased whereas K(CO) increased with
increasing Kinase Inhibitor Library manufacturer BMI and WC in the obese group. Patients with lower DL(CO) had low K(CO) in addition to decreased V A. In contrast, some obese patients maintained normal VA, which, coupled with high K(CO), resulted in higher DL(CO). The main result is that diffusion capacity differences between obese patients and controls disappeared using reference equations adjusting DL(CO) for V A. Conclusions: Using conventional reference equations, our obese patients show slightly lower mean DL(CO), lower mean V A and higher mean K(CO) than controls, but with a large range of DL(CO) values and patterns. Adjusting DL(CO) for V A suggests that low lung volumes are the main cause of low DL(CO) and high K(CO) values in obese patients. Copyright (C) 2010 S. Karger AG, Basel”
“Background: Most studies of the molecular etiology of sensorineural hearing loss have described deafness as a monogenic disease encompassing double-allele
mutations for patients with autosomal recessive deafness. Here, we report the first case of autosomal recessive genetic deafness in an enlarged vestibular aqueduct syndrome P5091 supplier (EVAS) patient With biallelic mutations in two deafness genes.
Methods: Temporal computed tomography (CT), complete physical and otoscopic examinations, and an audiological study, including tympanometry, pure-tone audiometry or auditory steady-state response (ASSR), were carried out. Exon 2 of GJB2 and the coding exons of SLC26A4 were sequenced.
Results: A patient with an enlarged vestibular aqueduct was found to carry c.1229C>T/c.1079C>T compound heterozygous mutations in SLC26A4. This individual also carried c.257C>G/c.299-300delAT compound Autophagy signaling 抑制剂s heterozygous mutations in GJB2. As a result, the recurrent risk of the patient’s siblings increased significantly from 25% for typical autosomal recessive deafness to 43.75%.
Conclusions: The findings of the present study challenge the traditional
diagnostic strategy in which testing is generally considered complete upon identification of a double-allele mutation within one gene, with significant implications for genetic counseling and risk prediction. Our results suggest that, with advances in sequencing technology, it will be possible and necessary to test all known deafness genes in the near future, as this will likely allow more accurate genetic counseling of patients. (C) 2012 Elsevier Ireland Ltd. All rights reserved.”
“Background: Despite widespread use of the incremental shuttle walk distance (ISWD), there are no reference equations for predicting it. Objectives: We aimed to evaluate ISWD in healthy subjects and to establish a reference equation for its prediction.