Examining Voting Capacity in Older Adults with and without Cognitive Decline

Background: Nowadays, controversy exists regarding the stage of cognitive decline and/or dementia where voting capacity is diminished. Aim: To evaluate whether general cognitive status in advancing age predicts voting capacity in its specific aspects. Methods: The study sample comprised 391 people: 88 cognitively healthy older adults (CH), 150 people with Mild Cognitive Impairment (MCI), and 153 people with Alzheimer’s disease dementia (ADD). The assessment included CAT-V for the voting capacity and Mini Mental State Examination (MMSE) for general cognitive ability. ANOVAs and ROC curves were the tools of statistical analysis towards (a) indicating under which MMSE rate participants are incapable of voting and (b) whether the CAT-V total score can discriminate people with dementia (PwADD) from people without dementia (PwtD). Results: Out of the six CAT-V questions, one question was associated with a low MMSE cutoff score (19.50), having excellent sensitivity (92.5%) and specificity (77.20%), whilst the other five questions presented a higher MMSE cutoff score, with a good sensitivity (78.4% to 87.6%) and specificity (75.3% to 81.7%), indicating that voting difficulties are associated with cognitive status. Secondarily, the total CAT-V score discriminates PwADD from PwtD of 51–65 years (sensitivity 93.2%/specificity 100%—excellent), PwADD from PwtD of 66–75 years (sensitivity 73.3%/specificity 97.1%—good), PwADD from PwtD of 76–85 years (sensitivity 92.2%/specificity 64.7%—good), whilst for 86–95 years, a cutoff of 9.5 resulted in perfect sensitivity and specificity (100%). Conclusion: According to MMSE, PwADD have no full voting competence, whilst PwtD seem to have intact voting capacity. The calculated cut-off scores indicate that only people who score more than 28 points on the MMSE have voting capacity

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study

International audienceBackground: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients' characteristics in the Greek national IPF cohort with suspected heritability.Patients and methods: 150 patients with familial PF, personal-family extrapulmonary disease suggesting short telomere syndrome, and/or young age IPF were analyzed.Results: MUC5B rs35705950 T risk allele was detected in 103 patients (90 heterozygous, 13 homozygous, allelic frequency of 39%), monoallelic TRG pathogenic variations in 19 patients (8 TERT, 5 TERC, 2 RTEL1, 2 PARN, 1 NOP10, and 1 NHP2), and biallelic ABCA3 pathogenic variations in 3. Overlapping MUC5B rs35705950 T risk allele and TRG pathogenic variations were shown in 11 patients (5 TERT, 3 TERC, 1 PARN, 1 NOP10, and 1 NHP2), MUC5B rs35705950 T risk allele, and biallelic ABCA3 pathogenic variations in 2. In 38 patients, neither MUC5B rs35705950 T risk allele nor TRG pathogenic variations were detectable. Kaplan-Meier curves showed differences in time-to-death (p = 0.025) where patients with MUC5B rs35705950 T risk allele alone or in combination with TRG pathogenic variations presented better prognosis.Conclusion: The Gen-Phen-Re-GreekS in iIPF identified multiple and overlapping genetic components including the rarest, underlying disease's genetic "richesse," complexity and heterogeneity. Time-to-death differences may relate to diverse IPF pathogenetic mechanisms implicating "personalized" medical care driven by genotypes in the near futur

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study

Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients’ characteristics in the Greek national IPF cohort with suspected heritability. Patients and Methods: 150 patients with familial PF, personal-family extrapulmonary disease suggesting short telomere syndrome, and/or young age IPF were analyzed. Results: MUC5B rs35705950 T risk allele was detected in 103 patients (90 heterozygous, 13 homozygous, allelic frequency of 39%), monoallelic TRG pathogenic variations in 19 patients (8 TERT, 5 TERC, 2 RTEL1, 2 PARN, 1 NOP10, and 1 NHP2), and biallelic ABCA3 pathogenic variations in 3. Overlapping MUC5B rs35705950 T risk allele and TRG pathogenic variations were shown in 11 patients (5 TERT, 3 TERC, 1 PARN, 1 NOP10, and 1 NHP2), MUC5B rs35705950 T risk allele, and biallelic ABCA3 pathogenic variations in 2. In 38 patients, neither MUC5B rs35705950 T risk allele nor TRG pathogenic variations were detectable. Kaplan-Meier curves showed differences in time-to-death (p = 0.025) where patients with MUC5B rs35705950 T risk allele alone or in combination with TRG pathogenic variations presented better prognosis. Conclusion: The Gen-Phen-Re-GreekS in iIPF identified multiple and overlapping genetic components including the rarest, underlying disease’s genetic “richesse,” complexity and heterogeneity. Time-to-death differences may relate to diverse IPF pathogenetic mechanisms implicating “personalized” medical care driven by genotypes in the near future