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- Georgakis, Marios K, et al.
(författare)
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Comorbidity of Cognitive Impairment and Late-Life Depression Increase Mortality : Results From a Cohort of Community-Dwelling Elderly Individuals in Rural Greece
- 2016
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Ingår i: Journal of Geriatric Psychiatry and Neurology. - : SAGE Publications. - 0891-9887 .- 1552-5708. ; 29:4, s. 195-204
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate the association of cognitive impairment (COGI) and depression with all-cause mortality and cardiovascular-specific mortality among community-dwelling elderly individuals in rural Greece.METHODS: Cognition and depressive symptomatology of 676 Velestino town residents aged ≥60 years were assessed using Mini-Mental State Examination (MMSE) and Geriatric Depression Scale (GDS), respectively. Eight-year all-cause mortality and cardiovascular mortality were explored by multivariate Cox regression models controlling for major confounders.RESULTS: Two hundred and one patients died during follow-up. Cognitive impairment (MMSE ≤ 23) was independently associated with all-cause mortality (hazard ratio [HR]: 1.57, 95% confidence interval [CI]: 1.13-2.18) and cardiovascular mortality (HR: 1.57, 95%CI: 1.03-2.41). Moderate to severe depression (GDS > 10) was significantly associated only with a 51% increase in all-cause mortality. A male-specific association was noted for moderate to severe depression, whereas the effect of COGI was limited to females. Noteworthy, COGI and depression comorbidity, rather than their sole presence, increased all-cause mortality and cardiovascular mortality by 66% and 72%, respectively. The mortality effect of COGI was augmented among patients with depression and of depression among patients with COGI.CONCLUSION: COGI and depression, 2 entities often coexisting among elderly individuals, appear to increase all-cause mortality and cardiovascular mortality. Gender-specific modes may prevail but their comorbidity should be carefully assessed, as it seems to represent an independent index of increased frailty, which eventually shortens life expectancy.
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| 3. |
- Georgakis, Marios K., et al.
(författare)
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Validation of TICS for detection of dementia and mild cognitive impairment among individuals characterized by low levels of education or illiteracy : a population-based study in rural Greece
- 2017
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Ingår i: Clinical Neuropsychologist (Neuropsychology, Development and Cognition. - : Informa UK Limited. - 1385-4046 .- 1744-4144. ; 31, s. 61-71
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The efficacy of the most widely used tests for dementia screening is limited in populations characterized by low levels of education. This study aimed to validate the face-to-face administered Telephone Interview for Cognitive Status (TICS) for detection of dementia and mild cognitive impairment (MCI) in a population-based sample of community dwelling individuals characterized by low levels of education or illiteracy in rural Greece. Methods: The translated Greek version of TICS was administered through face-to-face interview in 133 elderly residents of Velestino of low educational level (<12years). We assessed its internal consistency and test-retest reliability, its correlation with sociodemographic parameters, and its discriminant ability for cognitive impairment and dementia, as defined by a brief neurological evaluation, including assessment of cognitive status and level of independence. Results: TICS was characterized by adequate internal consistency (Cronbach's : .72) and very high test-retest reliability (intra-class correlation coefficient: .93); it was positively correlated with age and educational years. MCI and dementia were diagnosed in 18 and 10.5% of the population, respectively. Its discriminant ability for detection of dementia was high (Area under the curve, AUC: .85), with a sensitivity and specificity of 86 and 82%, respectively, at a cut-off point of 24/25. TICS did not perform well in differentiating MCI from cognitively normal individuals though (AUC: .67). Conclusion: The directly administered TICS questionnaire provides an easily applicable and brief option for detection of dementia in populations of low educational level and might be useful in the context of both clinical and research purposes.
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| 4. |
- Solaki, Maria, et al.
(författare)
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
- 2022
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:7, s. 832-858
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying “likely disease-causing” variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as “likely disease-causing” according to ACMG/AMP criteria. We report 48 novel “likely disease-causing” variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.
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