Diagnostic performance of late-night salivary cortisol measured by automated electrochemiluminescence immunoassay in obese and overweight patients referred to exclude Cushing's syndrome

This study estimates diagnostic performance of late-night salivary cortisol (LNSC) as measured by automated electrochemiluminescence immunoassay (ECLIA), evaluates the clinical implication of two consecutive LNSC measurements, and compares its accuracy with enzyme-linked immunosorbent assay (ELISA) and serum cortisol after low-dose dexamethasone suppression test (DST) in obese and overweight patients referred for suspected Cushing's syndrome (CS). One hundred twenty three consecutive obese and overweight referred patients and 98 healthy volunteers provided two saliva samples collected at 23:00 using a Salivette (Sarstedt, Germany), assayed by ECLIA (Cobas e601) and ELISA. The patients underwent DST and were further evaluated until CS was pathologically confirmed (n?=?45) or excluded. Diagnostic performance of LNSC was evaluated by receiver operating characteristic (ROC) analysis. The total areas under the curve (AUC) were calculated to compare the different tests. We found that a cut-off value of 9.4?nmol/l can differentiate CS among obese and overweight patients with sensitivity of 84.4?% (95% CI 71.2-92.2), specificity of 92.3?% (95% CI 84.2-96.4), and diagnostic odds ratio of 65.1 (95% CI 20.4-207.6). No difference was found between AUCs from the first, second, and the mean from the two LNSC measurements (ECLIA), LNSC (ELISA), or DST. The single LNSC (ECLIA) and DST improved the sensitivity and specificity for concordant results up to 100 and 97.4?%, respectively. In conclusion, due to its automation and its comparable diagnostic performance, ECLIA is preferable as a first-line LNSC screening test for CS. The initial use of single LNSC followed by DST provides better diagnostic performance for concordant results.     

Spinocerebellar ataxia type 1 in Russia

Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant gene. We investigated 25 patients from 15 Russian ADCA families for SCA1 mutation and found an expanded CAG repeat in 5 families. Mutant chromosomes contained 41–51 CAG repeats (mean 46.1, SD 3.1), and normal chromosomes displayed 21–27 repeat units (mean 24.7, SD 1.3). Progressive cerebellar ataxia in our series of SCA1 patients was very commonly associated with dysarthria (in all cases) and pyramidal signs (in 10 of 11 cases). In three patients from one family we found optic atrophy, which has never been described before in genetically proven cases of SCA1. We observed no specific clinical features distinguishing SCA1 from non-SCA1 patients. In contrast to the high frequency of SCA1 in our series, we found no patients with Machado-Joseph disease, another form of ADCA caused by expanded CAG repeat.     

Dysfunctional thinking patterns and immigration status as predictors of hearing protection device usage

Background: There is limited research on the role of dysfunctional/irrational thinking processes and immigration status on hearing protection device (HPD) usage.Purpose: The aim of the study is to investigate the effects of low frustration tolerance (LFT) and immigration status on HPD usage among employees exposed to hazardous industrial noise.Methods: A total of 117 Israeli-borns and 80 new immigrants from former Soviet Union completed a questionnaire. The association between HPD usage and barriers to action, self-efficacy, and LFT (accounting for age, years of exposure, and immigration status) were assessed using ordered logistic regression models.Results: LFT was associated negatively (adjusted odds ratio [OR] = .25, 95%; confidence interval [CI] = .15−.41) with HPD usage. Self-efficacy was a modifier (adjusted OR = 1.47, 95%; CI = 1.34−1.63): the higher the self-efficacy for a given LFT level, the higher the extent of HPD usage. Immigration status was not a significant predictor.Conclusions: HPD usage is associated with both rational and irrational motivations. The role of LFT in hearing protection should be further investigated.     

Variant euchromatic band within 16q12.1

The enlarged short arm of chromosome 16 resulting in an additional euchromatic band has been regarded as a variant. We present an unreported case with an unusual variant of chromosome 16, where the mother and daughter both have an additional band (q 12.1) in the long arm. Its origin is chromosome 16, as revealed by FISH-technique, and its familial nature suggests that it has no clinical significance.