Depression, common in chronic medical conditions, and hepatic encephalopathy (HE), a reversible neuropsychiatric syndrome due to liver dysfunction, are associated with impaired health-related quality of life (HRQOL) in cirrhosis and hepatitis C (HCV). This study investigated the impact of depression and HE on HRQOL in cirrhotic patients with HCV. A convenience sample of 43 ambulatory patients, with varying degrees of cirrhosis secondary to HCV, was prospectively enrolled in this study. Participants were assessed for any current depressive, fatigue, and daytime sleepiness symptoms and underwent a psychometric evaluation to determine the presence of HE symptoms. Participants reported current HRQOL on general health and liver disease-specific questionnaires. Diagnosis and current health status were confirmed via medical records. The associations between disease severity, depressive symptoms, HE, fatigue, and daytime sleepiness were measured. Predictors of HRQOL in this sample were determined. Depressive symptoms (70 %) and HE (77 %) were highly prevalent in this sample, with 58 % actively experiencing both conditions at the time of study participation. A significant positive association was found between depressive symptoms and HE severity (P = .05). Depressive symptoms were significantly associated with fatigue (P < .001), daytime sleepiness (P < .001), general HRQOL (P < .001), and disease-specific HRQOL (P < .001). HE was significantly associated with fatigue (P = .02), general HRQOL (P < .001), and disease-specific HRQOL (P < .001). Depressive symptoms and HE were significant predictors of reduced HRQOL (P < .001), with depressive symptoms alone accounting for 58.8 % of the variance. Depressive symptoms and HE accounted for 68.0 % of the variance. Findings suggest a possible pathophysiological link between depression and HE in cirrhosis, and potentially a wider-reaching benefit of treating minimal and overt HE than previously appreciated.

BackgroundHigh heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients.MethodsForty‐eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty‐seven exons of CFTR gene were sequenced to find sequence variations. Prevalence of pathogenic variations were determined and compared with other countries’ data.ResultsWe found 70 sequence variations. Eight of these are CF‐causing mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. Also this study is the second report of p.H609R in Ecuadorian population. Mutation prevalence differences between Ecuadorian population and other Latin America countries were found.ConclusionThe panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K.

Objective This study was undertaken to evaluate the cross‐cultural application of the International Classification of Cognitive Disorders in Epilepsy (IC‐CoDE) to a cohort of Spanish‐speaking patients with temporal lobe epilepsy (TLE) living in the United States. Methods Eighty‐four Spanish‐speaking patients with TLE completed neuropsychological measures of memory, language, executive function, visuospatial functioning, and attention/processing speed as part of the Neuropsychological Screening Battery for Hispanics. The contribution of demographic and clinical variables to cognitive performance was evaluated. A sensitivity analysis was conducted by examining the base rates of impairment across several impairment thresholds. The IC‐CoDE taxonomy was then applied, and the base rate of cognitive phenotypes for each cutoff was calculated. The distribution of phenotypes was compared to the published IC‐CoDE taxonomy data, which utilized a large, multicenter cohort of English‐speaking patients with TLE. Results Across the different impairment cutoffs, memory was the most impaired cognitive domain, with impairments in list learning ranging from 50% to 78%. Application of the IC‐CoDE taxonomy utilizing a −1.5‐SD cutoff revealed an intact cognitive profile in 47.6% of patients, single‐domain impairment in 23.8% of patients, bidomain impairment in 14.3% of patients, and generalized impairment in 14.3% of the sample. This distribution was comparable to the phenotype distribution observed in the IC‐CoDE validation sample. Significance We demonstrate a similar pattern and distribution of cognitive phenotypes in a Spanish‐speaking epilepsy cohort compared to an English‐speaking sample. This suggests stability in the underlying phenotypes associated with TLE and applicability of the IC‐CoDE for guiding cognitive diagnostics in epilepsy research that can be applied to culturally and linguistically diverse samples.

Several methods for identifying suboptimal effort on Spanish neuropsychological assessment have been established. The purpose of this retrospective study was to determine whether recognition data from the WHO-AVLT could be employed for determination of malingering in a Spanish-speaking sample. Sixteen subjects in litigation, 25 neurological patients, and 14 healthy controls completed neuropsychological testing. All subjects completed the Test of Memory Malingering (TOMM). Inclusion criteria for neurological patients and controls included performance above the standard TOMM cutoff. Subjects in litigation were classified as probable malingering, through lower than cutoff performance on the TOMM and at least one other performance validity measure. Cut-off scores for classification of malingering were determined based on the number of recognition hits on the WHO-AVLT. The probable malingering group performed significantly worse than both groups on recognition hits. A score <10 was determined to be the optimal group cutoff, with 56.25% sensitivity and specificity greater than 92%. A combination score of 14 increased sensitivity to 68.75%. These findings provide initial validation of a new malingering index, based on the number of hits on the WHO-AVLT recognition trial. This index will provide valuable information to neuropsychologists conducting forensic or clinical evaluations on Spanish-speaking individuals.

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