Korean Version of Mini Mental Status Examination for Dementia Screening and Its' Short Form

Objective We developed a Korean version of Mini-Mental Status Examination (MMSE) optimized for screening dementia (MMSE-DS) and its short form (SMMSE-DS). Methods We constructed the MMSE-DS using the items of the two current Korean versions of MMSE and then construct the SMMSE-DS consisted of 13 items from the MMSE-DS based on the diagnostic accuracy of individual items for dementia. We investigated reliability and validity of MMSE-DS and SMMSE-DS on 1,555 subjects (1,222 nondemented controls, 333 dementia patients). We compared the diagnostic accuracy of the SMMSE-DS with that of the three full Korean versions of MMSE, and examined its age- and education-specific optimal cutoff scores for dementia. Results The internal consistency obtained by Cronbach`s coefficient alpha was 0.826. The inter-rater reliability and test-retest reliability were 0.968 (p<0.001) and 0.825 (p<0.001), respectively. It showed significant correlation with the Clinical Dementia Rating (CDR) (r=-0.698, p<0.05) and the three full Korean versions of MMSE (r=0.839-0.938, p<0.001). The area under the receiver operator curve for dementia of the SMMSE-DS was larger than those of the three full Korean versions of MMSE (p<0.001). Age, education and gender explained 19.4% of the total variance of SMMSE-DS scores. The optimal cutoff scores for dementia of the SMMSE-DS were estimated differently by age and educational attainment of the subjects. Conclusion The SMMSE-DS was found to be accurate, brief and portable instrument for screening dementia in Korean elders, and may be particularly useful for screening dementia in elderly populations with wide variation in educational levels. Psychiatry Investig 2010;7:102-108This study was supported by a research grant from the Ministry of Health and Welfare, Korea (Grant NO. 08-2009-014).Han C, 2008, ARCH GERONTOL GERIAT, V47, P302, DOI 10.1016/j.archger.2007.08.012PARK JH, 2007, PSYCHIAT INVEST, V4, P84Kim KW, 2005, DEMENT GERIATR COGN, V19, P324, DOI 10.1159/000084558JHOO JH, 2005, J KOREAN NEUROPSYCHI, V44, P98KIM HS, 2005, HYEONDAE GUGEO SAYON, V2Boustani M, 2003, ANN INTERN MED, V138, P927KANG Y, 2003, NEUROPSYCHOLOGICAL SLee JH, 2002, J GERONTOL B-PSYCHOL, V57, pP47LEE DY, 2002, J KOREAN NEUROPSYCHI, V41, P508PARK J, 1999, J KOREAN NEUROPSYCHI, V38, P173Malloy PF, 1997, J NEUROPSYCH CLIN N, V9, P189KANG Y, 1997, J KOREAN NEUROL ASS, V15, P300WOO JL, 1996, J KOREAN NEUROPSYCHI, V35, P122LINN RT, 1995, ARCH NEUROL-CHICAGO, V52, P485MASUR DM, 1994, NEUROLOGY, V44, P1427*AM PSYCH ASS, 1994, DIAGN STAT MAN MENTIMAI Y, 1994, J HONG KONG COLL PSY, V4, P20MORRIS JC, 1993, NEUROLOGY, V43, P2412CRUM RM, 1993, JAMA-J AM MED ASSOC, V269, P2386TOMBAUGH TN, 1992, J AM GERIATR SOC, V40, P922FEHER EP, 1992, ARCH NEUROL-CHICAGO, V49, P87HODGES JR, 1990, J NEUROL NEUROSUR PS, V53, P1089GALASKO D, 1990, ARCH NEUROL-CHICAGO, V47, P49OCONNOR DW, 1989, PSYCHOL MED, V19, P771PARK JH, 1989, J KOREAN NEUROPSYCHI, V28, P508OCONNOR DW, 1989, J PSYCHIAT RES, V23, P87HANLEY JA, 1983, RADIOLOGY, V148, P839HUGHES CP, 1982, BRIT J PSYCHIAT, V140, P566ANTHONY JC, 1982, PSYCHOL MED, V12, P397FOLSTEIN MF, 1975, J PSYCHIATR RES, V12, P198

The Draft Genome of an Octocoral, Dendronephthya gigantea

Coral reefs composed of stony corals are threatened by global marine environmental changes. However, soft coral communities of octocorallian species, appear more resilient. The genomes of several cnidarians species have been published, including from stony corals, sea anemones, and hydra. To fill the phylogenetic gap for octocoral species of cnidarians, we sequenced the octocoral, Dendronephthya gigantea, a nonsymbiotic soft coral, commonly known as the carnation coral. The D. gigantea genome size is similar to 276 Mb. A high-quality genome assembly was constructed from PacBio long reads (29.85 Gb with 108x coverage) and Illumina short paired-end reads (35.54 Gb with 128x coverage) resulting in the highest N50 value (1.4 Mb) reported thus far among cnidarian genomes. About 12% of the genome is repetitive elements and contained 28,879 predicted protein-coding genes. This gene set is composed of 94% complete BUSCO ortholog benchmark genes, which is the second highest value among the cnidarians, indicating high quality. Based on molecular phylogenetic analysis, octocoral and hexacoral divergence times were estimated at 544 MYA. There is a clear difference in Hox gene composition between these species: unlike hexacorals, the Antp superclass Evx gene was absent in D. gigantea. Here, we present the first genome assembly of a nonsymbiotic octocoral, D. gigantea to aid in the comparative genomic analysis of cnidarians, including stony and soft corals, both symbiotic and nonsymbiotic. The D. gigantea genome may also provide clues to mechanisms of differential coping between the soft and stony corals in response to scenarios of global warming

Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease

Background Identifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population. Methods We conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel. Results A total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Among the typical ADPKD cases, the Mayo imaging classification was as follows: 1A (55, 9.9%), 1B (149, 26.6%), 1C (198, 35.8%), 1D (90, 16.3%), and 1E (61, 11.0%). The atypical PKD cases were classified as bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (nine, 10.8%), segmental (eight, 9.6%), bilateral cystic with unilateral atrophic (seven, 8.4%), and asymmetric (one, 1.2%). Pathogenic variants were found in 64.3% of the patients using the ciliopathy-related targeted gene panel. The typical ADPKD group demonstrated a higher discovery rate (62.3%) than the atypical PKD group (41.8%). Conclusion We present a nationwide genetic cohort’s baseline clinical and genetic characteristics for Korean cystic kidney disease

Allelopathic effects of Ulva pertusa, Corallina pilulifera and Sargassum thunbergii on the growth of the dinoflagellates Heterosigma akashiwo and Alexandrium tamarense

The allelopathic effects of fresh tissue, dry powder and aqueous extracts of three macroalgae, Ulva pertusa, Corallina pilulifera and Sargassum thunbergii, on the growth of the dinoflagellates Heterosigma akashiwo and Alexandrium tamarense were evaluated using coexistence culture systems in which concentrations of the three macroalga were varied. The results of the coexistence assay showed that the growth of the two microalgae was strongly inhibited by using fresh tissue, dry powder and aqueous extracts of the three macroalga; the allelochemicals were lethal to H. akashiwo at relatively higher concentrations of the three macroalga. The macroalgae showing the most allelopathic effect on H. akashiwo and A. tamarense using fresh tissue were U. pertusa and S. thunbergii, using dry powder were S. thunbergii and U. pertusa, and using aqueous extracts were U. pertusa and C. pilulifera. We also examined the potential allelopathic effect on the two microalgae of culture filtrate of the three macroalga; culture medium filtrate initially exhibited no inhibitory effects when first added but inhibitory effects became apparent under semi-continuous addition, which suggested that continuous release of small quantities of rapidly degradable allelochemicals from the fresh macroalgal tissue were essential to effectively inhibit the growth of the two microalgae

Risk to human health related to the presence of perfluoroalkyl substances in food

Acknowledgements: The Panel wishes to thank the following for their support provided to this scientific output as Hearing experts: Klaus Abraham, Esben Budtz-Jørgensen, Tony Fletcher, Philippe Grandjean, Hans Mielke and Hans Rumke and EFSA staff members: Davide Arcella, Marco Binaglia, Petra Gergelova, Elena Rovesti and Marijke Schutte. The Panel wishes to acknowledge all European competent institutions, Member State bodies and other organisations that provided data for this scientific output. The Panel would also like to thank the following authors and co-authors for providing additional information in relation to their respective studies: Berit Granum, Margie M Peden-Adams, Thomas Webster.Peer reviewedPublisher PD

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Publisher Copyright: © 2022, The Author(s).Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.Peer reviewe

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Abstract Background Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk