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1.
Ann Neurol ; 94(5): 836-847, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37532684

RESUMEN

OBJECTIVE: The effect of clonal hematopoiesis of indeterminate potential (CHIP) on the manifestation and clinical outcomes of acute ischemic stroke (AIS) has not been fully elucidated. METHODS: Patients with AIS were included from a prospective registry coupled with a DNA repository. Targeted next-generation sequencing on 25 genes that are frequently mutated in hematologic neoplasms was performed. The prevalence of CHIP was compared between patients with AIS and age-matched healthy individuals. A multivariate linear or logistic regression model was used to assess the association among CHIP and stroke severity, hemorrhagic transformation, and functional outcome at 90 days. RESULTS: In total, 380 patients with AIS (mean age = 67.2 ± 12.7 years; 41.3% women) and 446 age-matched controls (mean age = 67.2 ± 8.7 years; 31.4% women) were analyzed. The prevalence of CHIP was significantly higher in patients with AIS than in the healthy controls (29.0 vs 22.0%, with variant allele frequencies of 1.5%, p = 0.024). PPM1D was found to be most significantly associated with incident AIS (adjusted odds ratio [aOR] = 7.85, 95% confidence interval [CI] = 1.83-33.63, p = 0.006). The presence of CHIP was significantly associated with the initial National Institutes of Health Stroke Scale (NIHSS) score (ß = 1.67, p = 0.022). Furthermore, CHIP was independently associated with the occurrence of hemorrhagic transformation (65/110 clonal hematopoiesis positive [CH+] vs 56/270 CH negative [CH-], aOR = 5.63, 95% CI = 3.24-9.77, p < 0.001) and 90-day functional disability (72/110 [CH+] vs 99/270 [CH-], aOR = 2.15, 95% CI = 1.20-3.88, p = 0.011). INTERPRETATION: CH was significantly associated with incident AIS. Moreover, particularly, sequence variations in PPM1D, TET2, and DNMT3A represent a new prognostic factor for AIS. ANN NEUROL 2023;94:836-847.


Asunto(s)
Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Femenino , Persona de Mediana Edad , Anciano , Masculino , Hematopoyesis Clonal , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/genética
2.
Artículo en Inglés | MEDLINE | ID: mdl-39140846

RESUMEN

Two Gram-negative, obligately aerobic, rod-shaped bacteria, strains G1-22T and G1-23T, were isolated from the phycosphere of a marine brown alga. Both strains exhibited catalase- and oxidase-positive activities. Strain G1-22T displayed optimal growth at 25 °C, pH 8.0, and 2.0-3.0% (w/v) NaCl, while strain G1-23T exhibited optimal growth at 25 °C, pH 8.0, and 4.0% NaCl. Ubiquinone-8 was identified as the sole isoprenoid quinone in both strains. As major fatty acids (> 5%), strain G1-22T contained C16 : 0, summed feature 3 (C16 : 1 ω7c and/or C16 : 1 ω6c), summed feature 8 (C18 : 1 ω7c and/or C18 : 1 ω6c), C12 : 1 3-OH, and C10 : 0 3-OH, while strain G1-23T contained C16 : 0, summed feature 3 (C16 : 1 ω7c and/or C16 : 1 ω6c), and C14 : 0. Phosphatidylethanolamine, phosphatidylglycerol, and diphosphatidylglycerol were major polar lipids in both strains. Strains G1-22T and G1-23T had DNA G+C contents of 40.2 and 38.9 mol%, respectively. Phylogenetic analyses based on 16S rRNA and genome sequences revealed that strains G1-22T and G1-23T formed distinct phylogenetic lineages within the genera Psychrosphaera and Paraglaciecola, respectively. Strain G1-22T showed closest relatedness to Psychrosphaera ytuae MTZ26T with 97.8% 16S rRNA gene sequence similarity, 70.2% average nucleotide identity (ANI), and a 21.5% digital DNA-DNA hybridization (dDDH) value, while strain G1-23T was most closely related to Paraglaciecola aquimarina KCTC 32108T with 95.6% 16S rRNA gene sequence similarity, 74.6% ANI, and a 20.1% dDDH value. Based on phenotypic and molecular characteristics, strains G1-22T and G1-23T are proposed to represent two novel species, namely Psychrosphaera algicola sp. nov. (type strain G1-22T=KACC 22486T=JCM 34971T) and Paraglaciecola algarum sp. nov. (type strain G1-23T=KACC 22490T=JCM 34972T), respectively. Additionally, based on the comparison of whole genome sequences, it is proposed that Pseudoalteromonas elyakovii, Pseudoalteromonas flavipulchra, and Pseudoalteromonas profundi are reclassified as later heterotypic synonyms of Pseudoalteromonas distincta, Pseudoalteromonas maricaloris, and Pseudoalteromonas gelatinilytica, respectively.


Asunto(s)
Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano , Ácidos Grasos , Hibridación de Ácido Nucleico , Filogenia , Pseudoalteromonas , ARN Ribosómico 16S , Análisis de Secuencia de ADN , Ubiquinona , ARN Ribosómico 16S/genética , ADN Bacteriano/genética , Pseudoalteromonas/genética , Pseudoalteromonas/clasificación , Pseudoalteromonas/aislamiento & purificación , Phaeophyceae/microbiología
3.
Artículo en Inglés | MEDLINE | ID: mdl-38700924

RESUMEN

Two Gram-stain-negative, facultatively aerobic, and motile rod bacteria, designated as strains KJ51-3T and 15G1-11T, were isolated from marine algae collected in the Republic of Korea. Both strains exhibited catalase- and oxidase-positive activities. Optimum growth conditions for strain KJ51-3T were observed at 30 °C and pH 6.0-8.0, with 1.0-7.0 % (w/v) NaCl, whereas strain 15G1-11T exhibited optimal growth at 30 °C, pH 7.0, and 1.0-5.0 % NaCl. Major fatty acids detected in both strains included C16 : 0, C10 : 0 3-OH and summed features 3 (C16 : 1 ω7c and/or C16 : 1 ω6c) and 8 (C18 : 1 ω7c and/or C18 : 1 ω6c). As for polar lipids, strain KJ51-3T contained phosphatidylethanolamine (PE), phosphatidylglycerol (PG), diphosphatidylglycerol, and two unidentified phospholipids, whereas strain 15G1-11T had PE, PG, and an unidentified aminolipid. Ubiquinone-8 was the predominant respiratory quinone in both strains, with minor detection of ubiquinone-9 in strain KJ51-3T. The genomic DNA G+C contents were 44.0 mol% for strain KJ51-3T and 40.5 mol% for strain 15G1-11T. Phylogenetic analyses based on both 16S rRNA gene and genome sequences placed strains KJ51-3T and 15G1-11T into distinct lineages within the genus Marinomonas, most closely related to Marinomonas arctica 328T (98.6 %) and Marinomonas algicola SM1966T (98.3 %), respectively. Strains KJ51-3T and 15G1-11T exhibited a 94.6 % 16S rRNA gene sequence similarity and a 70.7 % average nucleotide identity (ANI), with ANI values of 91.9 and 79.3 % between them and M. arctica 328T and M. algicola SM1966T, respectively, indicating that they represent novel species. In summary, based on their phenotypic, chemotaxonomic, and phylogenetic properties, strains KJ51-3T and 15G1-11T are proposed to represent novel species within the genus Marinomonas, for which the names Marinomonas rhodophyticola sp. nov. (KJ51-3T=KACC 22756T=JCM 35591T) and Marinomonas phaeophyticola sp. nov. (15G1-11T=KACC 22593T=JCM 35412T) are respectively proposed.


Asunto(s)
Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano , Ácidos Grasos , Marinomonas , Fosfolípidos , Filogenia , ARN Ribosómico 16S , Análisis de Secuencia de ADN , Ubiquinona , ARN Ribosómico 16S/genética , Ácidos Grasos/química , ADN Bacteriano/genética , Marinomonas/genética , Marinomonas/aislamiento & purificación , Marinomonas/clasificación , República de Corea , Agua de Mar/microbiología
4.
Artículo en Inglés | MEDLINE | ID: mdl-38717925

RESUMEN

A Gram-stain-negative, facultative aerobic, catalase- and oxidase-positive, non-motile, non-flagellated, and coccus-shaped bacterium, strain J2-16T, isolated from a marine green alga, was characterized taxonomically. Strain J2-16T grew at 20-40 °C (optimum, 30 °C), pH 6.0-10.0 (optimum, pH 7.0), and 1.0-4.0 % (w/v) NaCl (optimum, 3.0 %). Menaquinone-7 was identified as the sole respiratory quinone, and major fatty acids (>5 %) were C18 : 1 ω9c, iso-C14 : 0, C14 : 0, anteiso-C15 : 0, C18 : 0, C16 : 0, and C17 : 1 ω8c. The polar lipids of strain J2-16T consisted of phosphatidylglycerol, phosphatidylethanolamine, two unidentified phospholipids, and three unidentified lipids. The genome size of strain J2-16T was 5384 kb with a G+C content of 52.0 mol%. Phylogenetic analyses based on 16S rRNA gene and 120 protein marker sequences revealed that strain J2-16T formed a distinct phyletic lineage within the genus Coraliomargarita, closely related to Coraliomargarita sinensis WN38T and Coraliomargarita akajimensis DSM 45221T with 16S rRNA gene sequence similarities of 95.7 and 94.4 %, respectively. Average nucleotide identity and digital DNA-DNA hybridization values between strain J2-16T and Coraliomargarita species were lower than 71.2 and 20.0 %, respectively. The phenotypic, chemotaxonomic, and molecular features support that strain J2-16T represents a novel species of the genus Coraliomargarita, for which the name Coraliomargarita algicola sp. nov. is proposed. The type strain is J2-16T (=KACC 22590T=JCM 35407T).


Asunto(s)
Técnicas de Tipificación Bacteriana , Composición de Base , Chlorophyta , ADN Bacteriano , Ácidos Grasos , Fosfolípidos , Filogenia , ARN Ribosómico 16S , Análisis de Secuencia de ADN , Vitamina K 2 , ARN Ribosómico 16S/genética , Ácidos Grasos/química , Vitamina K 2/análogos & derivados , Vitamina K 2/análisis , ADN Bacteriano/genética , Hibridación de Ácido Nucleico , Agua de Mar/microbiología
5.
Artículo en Inglés | MEDLINE | ID: mdl-38728177

RESUMEN

Two Gram-stain-negative, rod-shaped bacteria, designated as strains KJ10-1T and KJ40-1T, were isolated from marine brown algae. Both strains were catalase-positive, oxidase-positive, and facultative aerobic. Strain KJ10-1T exhibited optimal growth at 25 °C, pH 7.0, and 3 % NaCl, whereas strain KJ40-1T showed optimal growth at 25 °C, pH 7.0, and 2 % NaCl. The respiratory quinones of strain KJ10-1T were ubiquinone-8, ubiquinone-7, menaquinone-7, and methylated menaquinone-7, while the respiratory quinone of strain KJ40-1T was only ubiquinone-8. As major fatty acids, strain KJ10-1T contained C16 : 0, C17 : 1 ω8c, iso-C15 : 0, and summed feature 3 (C16 : 1 ω7c and/or C16 : 1 ω6c) and strain KJ40-1T contained C16 : 0 and summed features 3 and 8 (C18 : 1 ω7c and/or C18 : 1 ω6c). The major polar lipids in strain KJ10-1T were phosphatidylethanolamine, phosphatidylglycerol, and an unidentified aminolipid, whereas those in strain KJ40-1T were phosphatidylethanolamine, phosphatidylglycerol, and diphosphatidylglycerol. The DNA G+C contents of strains KJ10-1T and KJ40-1T were 42.1 and 40.8 mol%, respectively. Based on 16S rRNA gene sequences, strains KJ10-1T and KJ40-1T exhibited the closest relatedness to Shewanella saliphila MMS16-UL250T (98.6 %) and Vibrio rumoiensis S-1T (95.4 %), respectively. Phylogenetic analyses, based on both 16S rRNA and 92 housekeeping genes, showed that the strains formed distinct phylogenic lineages within the genera Shewanella and Vibrio. Digital DNA-DNA hybridization and orthologous average nucleotide identity values between strain KJ10-1T and other Shewanella species, as well as between strain KJ40-1T and other Vibrio species, were below the thresholds commonly accepted for prokaryotic species delineation. Based on the phenotypic, chemotaxonomic, and phylogenetic data, strains KJ10-1T and KJ40-1T represent novel species of the genera Shewanella and Vibrio, respectively, for which the names Shewanella phaeophyticola sp. nov. and Vibrio algarum sp. nov. are proposed, respectively. The type strains of S. phaeophyticola and V. algarum are KJ10-1T (=KACC 22589T=JCM 35409T) and KJ40-1T (=KACC 22588T=JCM 35410T), respectively.


Asunto(s)
Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano , Ácidos Grasos , Phaeophyceae , Filogenia , ARN Ribosómico 16S , Análisis de Secuencia de ADN , Shewanella , Ubiquinona , Vibrio , Vitamina K 2 , ARN Ribosómico 16S/genética , ADN Bacteriano/genética , Vibrio/genética , Vibrio/clasificación , Vibrio/aislamiento & purificación , Ubiquinona/análogos & derivados , Shewanella/genética , Shewanella/aislamiento & purificación , Shewanella/clasificación , Phaeophyceae/microbiología , Vitamina K 2/análogos & derivados , Fosfolípidos , Hibridación de Ácido Nucleico , Agua de Mar/microbiología
6.
Artículo en Inglés | MEDLINE | ID: mdl-39264709

RESUMEN

A Gram-stain-negative, yellow-pigmented, and strictly aerobic bacterium, designated as strain MSW5T, was isolated from seawater of the Yellow Sea in South Korea. The cells were non-motile rods exhibiting oxidase- and catalase-positive activities. Growth was observed at 15-25 °C (optimum, 25 °C) and pH 5.0-9.0 (optimum, pH 7.0-8.0) and in the presence of 1.0-5.0% (w/v) NaCl (optimum, 2.0%). Menaquinone-6 was the sole respiratory quinone, and iso-C15 : 0, summed feature 3 (C16 : 1 ω7c and/or C16 : 1 ω6c), iso-C15 : 0 3-OH, and C15 : 1 ω6c were the major cellular fatty acids. Major polar lipids included phosphatidylethanolamine, two unidentified aminolipids, and three unidentified lipids. Phylogenetic analyses based on 16S rRNA gene sequences and 92 concatenated core protein sequences revealed that strain MSW5T formed a distinct lineage within the genus Polaribacter. The genome of strain MSW5T was 3582 kb in size with a 29.1 mol% G+C content. Strain MSW5T exhibited the highest similarity to Polaribacter atrinae WP25T, with a 97.9% 16S rRNA gene sequence similarity. However, the average nucleotide identity and digital DNA-DNA hybridization values were 79.4 and 23.3%, respectively, indicating that strain MSW5T represents a novel species. Based on its phenotypic, chemotaxonomic, and phylogenetic characteristics, strain MSW5T is proposed to represent a novel species, with the name Polaribacter ponticola sp. nov. The type strain is MSW5T (=KACC 22340T=NBRC 116025T). In addition, whole genome sequence comparisons and phenotypic features suggested that Polaribacter sejongensis and Polaribacter undariae belong to the same species, with P. undariae proposed as a later heterotypic synonym of P. sejongensis. An emended description of Polaribacter sejongensis is also proposed.


Asunto(s)
Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano , Ácidos Grasos , Filogenia , ARN Ribosómico 16S , Agua de Mar , Análisis de Secuencia de ADN , Vitamina K 2 , ARN Ribosómico 16S/genética , Ácidos Grasos/análisis , Agua de Mar/microbiología , República de Corea , ADN Bacteriano/genética , Vitamina K 2/análogos & derivados , Vitamina K 2/análisis , Fosfatidiletanolaminas , Hibridación de Ácido Nucleico , Bacteroidetes/genética , Bacteroidetes/clasificación , Bacteroidetes/aislamiento & purificación , Fosfolípidos/análisis , Fosfolípidos/química
7.
Int J Syst Evol Microbiol ; 74(10)2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39412864

RESUMEN

Three Gram-stain-negative, strictly aerobic, non-motile, oxidase- and catalase-positive, short-rod-shaped bacteria, designated as strains G8-12T, SS1-5T and BS5-3T, were isolated from marine algae in South Korea. Strain G8-12T exhibited optimal growth at 20-25 °C, pH 8.0 and 2.0-2.5% (w/v) NaCl, while strains SS1-5T and BS5-3T grew optimally at 25 °C, pH 7.0 and 1.5% NaCl. All strains contained ubiquinone-10 as the sole respiratory quinone, with phosphatidylglycerol and phosphatidylcholine as major polar lipids, and C18 : 1 ω7c and C16 : 0 as major fatty acids (>5 %); C18 : 1 ω7c 11-methyl and C18 : 1 2-OH were additionally identified as major fatty acids in strain SS1-5T. The genomic DNA G+C contents were 57.0, 58.3 and 56.4% for strains G8-12T, SS1-5T and BS5-3T, respectively. Strains G8-12T, SS1-5T and BS5-3T exhibited less than 74.8% average nucleotide identity (ANI) and 19.7% digital DNA-DNA hybridization (dDDH) values with each other, indicating that they represent different species. Phylogenetic analyses based on both 16S rRNA gene and genome sequences revealed that strains G8-12T, SS1-5T and BS5-3T form distinct phylogenetic lineages within the genus Yoonia. Relative to other closely related Yoonia species, these strains exhibited ANI and dDDH values below 83.5 and 26.9%, respectively, suggesting that they constitute novel species within the genus Yoonia. Based on their phenotypic, chemotaxonomic and phylogenetic characteristics, strains G8-12T, SS1-5T and BS5-3T represent three novel species of the genus Yoonia, for which the names Yoonia algicola sp. nov. (G8-12T=KACC 22753T=JCM 35790T), Yoonia rhodophyticola sp. nov. (SS1-5T=KACC 22649T=JCM 35753T) and Yoonia phaeophyticola sp. nov. (BS5-3T=KACC 22648T=JCM 35751T) are proposed, respectively.


Asunto(s)
Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano , Ácidos Grasos , Hibridación de Ácido Nucleico , Filogenia , ARN Ribosómico 16S , Análisis de Secuencia de ADN , Ubiquinona , ARN Ribosómico 16S/genética , ADN Bacteriano/genética , Ubiquinona/análogos & derivados , República de Corea , Agua de Mar/microbiología
8.
Artículo en Inglés | MEDLINE | ID: mdl-38415702

RESUMEN

Two Gram-stain-negative, strictly aerobic rods, designated as RMAR6-6T and KMA01T, exhibiting catalase- and oxidase-positive activities, were isolated from marine red algae in the Republic of Korea. Cells of strain RMAR6-6T exhibited flagellar motility, while those of strain KMA01T were non-motile. Strain RMAR6-6T exhibited optimal growth at 30-35°C and pH 7.0-8.0 with 4.0-6.0 % (w/v) NaCl, while strain KMA01T grew optimally at 30-35 °C, pH 7.0-8.0 and 2.0-5.0% NaCl. Both strains shared common major respiratory isoprenoid quinone (ubiquinone-10), cellular fatty acids (C18 : 0, C18: 1 ω7c 11-methyl, C20 : 1 ω7c and summed feature 8) and polar lipids (phosphatidylglycerol, phosphatidylmonomethylethanolamine, diphosphatidylglycerol, phosphatidylethanolamine, phosphatidylcholine and sulphoquinovosyldiacylglycerol). The genomic DNA G+C contents were 59.0 and 55.0 mol% for strains RMAR6-6T and KMA01T, respectively. With 98.5 % 16S rRNA gene similarity, 75.2 % average nucleotide identity (ANI) and 19.8 % digital DNA-DNA hybridization (dDDH) values, strains RMAR6-6T and KMA01T were identified as representing distinct species. Phylogenetic analyses based on both 16S rRNA gene and genome sequences revealed that strains RMAR6-6T and KMA01T formed distinct phylogenic lineages within the genus Roseibium, most closely related to Roseibium aggregatum IAM 12614T and Roseibium album CECT 5094T, respectively. The ANI and dDDH values between strain RMAR6-6T and R. aggregatum IAM 12614T were 87.5 and 33.3 %, respectively. Similarly, the values between KMA01T and R. album CECT 5094T were 74.2 % (ANI) and 19.3 % (dDDH). Based on phenotypic, chemotaxonomic and molecular characteristics, strains RMAR6-6T and KMA01T represent two novel species of the genus Roseibium, for which the names R. algicola sp. nov. (RMAR6-6T=KACC 22482T=JCM 34977T) and R. porphyridii sp. nov. (KMA01T=KACC 22479T=JCM 34597T) are proposed, respectively.


Asunto(s)
Ácidos Grasos , Gammaproteobacteria , Composición de Base , Ácidos Grasos/química , Filogenia , ARN Ribosómico 16S/genética , Cloruro de Sodio , Análisis de Secuencia de ADN , ADN Bacteriano/genética , Técnicas de Tipificación Bacteriana , Nucleótidos
9.
Artículo en Inglés | MEDLINE | ID: mdl-38189362

RESUMEN

Two Gram-stain-negative, obligately aerobic, motile rod bacteria, designated as G2-5T and G20-9T, exhibiting catalase- and oxidase-positive activities, were isolated from the phycosphere of a Chondrus species, a marine red alga. Strain G2-5T exhibited optimal growth at 30 °C and pH 5.0-6.0 and in the presence of 0.5-1.0% NaCl. In contrast, strain G20-9T demonstrated optimal growth at 25 °C and pH 6.0 and in the presence of 0.5-1.5% NaCl. Both strains contained ubiquinone-10, summed feature 8 (C18 : 1 ω7c and/or C18 : 1 ω6c), C18 : 0 and 11-methyl-C18 : 1 ω7c, and diphosphatidylglycerol and phosphatidylglycerol as the major respiratory isoprenoid quinone, cellular fatty acids and polar lipids, respectively. The genomic DNA G+C contents were 57.2 mol% for strain G2-5T and 57.5 mol% for strain G20-9T. Strains G2-5T and G20-9T exhibited 98.2 % 16S rRNA gene sequence similarity, along with 82.3 % average nucleotide identity (ANI) and 25.0 % digital DNA-DNA hybridization (dDDH) values, indicating that they represent different species. Phylogenetic analyses based on both 16S rRNA gene and genome sequences revealed that strains G2-5T and G20-9T formed distinct phylogenic lineages within the genus Devosia. Strains G2-5T and G20-9T were most closely related to Devosia limi DSM 17137T and Devosia beringensis S02T with 97.7 and 96.9 % 16S rRNA gene sequence similarities, respectively. The ANI and dDDH values between strains G2-5T and G20-9T and other Devosia species were lower than 73.9 and 19.2 %, respectively, suggesting that they constitute novel species within the genus Devosia. Based on their distinct phenotypic, chemotaxonomic, and molecular characteristics, strains G2-5T and G20-9T represent two novel species of the genus Devosia, for which the names Devosia rhodophyticola sp. nov. (G2-5T=KACC 22601T=JCM 35404T) and Devosia algicola sp. nov. (G20-9T=KACC 22650T=JCM 35405T) are proposed, respectively.


Asunto(s)
Gammaproteobacteria , Rhodophyta , Composición de Base , Ácidos Grasos/química , Filogenia , ARN Ribosómico 16S/genética , Cloruro de Sodio , Análisis de Secuencia de ADN , ADN Bacteriano/genética , Técnicas de Tipificación Bacteriana , Nucleótidos
10.
Cerebrovasc Dis ; : 1-6, 2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38810603

RESUMEN

INTRODUCTION: Patent foramen ovale (PFO)-stroke, a form of cryptogenic stroke, has certain identifying clinical and imaging features. However, data describing this stroke type remain inconsistent. This study examined the potential variations in PFO-stroke features, depending on age. METHODS: From a hospital registry, cryptogenic stroke patients were retrospectively selected, and PFO-strokes were identified by the presence of >10 microembolic signals on transcranial Doppler saline agitation test. Cryptogenic strokes were grouped according to age (<70 as young, ≥70 as elderly). Clinical and imaging variables of PFO-strokes and non-PFO-strokes were compared, with and without age considered. RESULTS: Of the 462 cryptogenic patients, 30.5% (141/462) were PFO-strokes, while majority (321/462) had no PFO. When cryptogenic strokes were analyzed by age, the significant difference was noted in the lesion number, pattern, and side. A single (72.8 vs. 57.9%, p = 0.020) and a small single lesion (51.1 vs. 35.5%, p = 0.039) were frequently seen in the younger PFO-strokes than the non-PFO counterpart, while mixed territory lesions identified the elderly PFO-strokes (30.6 vs. 8.9%, p = 0.001). A multivariate logistic regression analysis of PFO-strokes further showed that age was independently associated with lesion side (OR 1.12 [1.05-1.20], p < 0.001) and lesion number (OR 1.06 [1.02-1.10], p = 0.005). CONCLUSIONS: Incorporating age-specific imaging criteria in the identification of PFO-strokes may be of additional value. Further, PFO may remain contributory to the stroke risk in the elderly, in association with vascular risk factors.

11.
J Korean Med Sci ; 39(36): e250, 2024 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-39315442

RESUMEN

BACKGROUND: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA. METHODS: In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping. The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trio-WGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group. RESULTS: The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants. There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants. CONCLUSION: This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.


Asunto(s)
Anomalías Múltiples , Cariotipificación , Secuenciación Completa del Genoma , Humanos , Recién Nacido , Estudios Prospectivos , Masculino , Femenino , Anomalías Múltiples/genética , Anomalías Múltiples/diagnóstico , Fenotipo , Unidades de Cuidado Intensivo Neonatal , Lactante , Genotipo , Pruebas Genéticas/métodos
12.
Hum Genet ; 142(11): 1561-1569, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37728764

RESUMEN

Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test. There is a lack of agreement to return the SF results for individuals undergoing the test. The aim of this study is to investigate the frequency of actionable secondary findings using GS data obtained from the rare disease study and the Korean Genome and Epidemiology Study (KoGES) in the National Project of Bio Big Data pilot study. Pathogenic (P) or likely pathogenic (LP) variants of 78 SF genes recommended by the American College of Medical Genetics and Genomics (ACMG) were screened in the rare disease study and KoGES. The pathogenicity of SF gene variants was determined according to the ACMG interpretation. The overall SF rate was 3.75% for 280 individuals with 298 P/LP variants of 41 ACMG SF genes which were identified among 7472 study participants. The frequencies of genes associated with cardiovascular, cancer, and miscellaneous phenotypes were 2.17%, 1.22%, and 0.58%, respectively. The most frequent SF gene was TTN followed by BRCA2. The frequency of actionable SFs among participants with rare disease and general population participants in the Korean population presented here will assist in reporting results of medically actionable SFs in genomic medicine.


Asunto(s)
Macrodatos , Enfermedades Raras , Humanos , Proyectos Piloto , Genómica , República de Corea/epidemiología , Pruebas Genéticas
13.
Int J Syst Evol Microbiol ; 73(10)2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37877986

RESUMEN

A Gram-stain-negative and facultative aerobic bacterium, strain 16-MAT, was isolated from seawater of Yellow Sea in South Korea. Cells were catalase- and oxidase-positive and non-motile rods. Growth occurred at 4-37 °C (optimum, 30 °C) and pH 6.0-11.0 (optimum, 8.0), and in the presence of 0-7.0% NaCl (optimum, 3 %). Strain 16-MAT contained ubiquinone-8 as the sole isoprenoid quinone, C16 : 0 and summed feature three as the major fatty acids (>10 %), and phosphatidylglycerol, phosphatidylethanolamine, an unidentified phospholipid, an unidentified aminophospholipid, and an unidentified polar lipid as the major polar lipids. The genome size and DNA G+C content of strain 16-MAT were 3.69 Mb and 46.0 mol%, respectively. Strain 16-MAT was most closely related to Alishewanella alkalitolerans LNK-7.1T with a 97.9 % 16S rRNA gene sequence similarity. A phylogenomic tree based on whole genome sequences showed that strain 16-MAT formed a phylogenetic lineage within the genus Alishewanella. Based on the phenotypic, chemotaxonomic, and molecular analyses, strain 16-MAT represents a novel species of the genus Alishewanella, for which the name Alishewanella maricola is proposed. The type strain is 16-MAT (=KACC 22238T =JCM 34596T).


Asunto(s)
Ácidos Grasos , Agua de Mar , Composición de Base , Ácidos Grasos/química , Filogenia , ARN Ribosómico 16S/genética , Análisis de Secuencia de ADN , ADN Bacteriano/genética , Técnicas de Tipificación Bacteriana
14.
Artículo en Inglés | MEDLINE | ID: mdl-37755148

RESUMEN

Two Gram-negative, moderately halophilic, and motile rod bacteria, strains G2-23T and J2-29T, showing catalase- and oxidase-positive activities were isolated from species of the marine algae Chondrus and Ulva, respectively. Both strains optimally grew at 30 °C, pH 7.0 and 2% (w/v) NaCl. Both strains contained ubiquinone-10 as the sole isoprenoid quinone. Strain G2-23T contained summed feature 8 (C18 : 1 ω7c and/or C18 : 1 ω6c), C16 : 0 and summed feature 3 (iso-C15 : 0 2-OH and/or C16 : 1 ω7c/ω6c) as major cellular fatty acids, and phosphatidylethanolamine (PE), phosphatidyl-N-monomethylethanolamine (PME), phosphatidylglycerol (PG), diphosphatidylglycerol and an unidentified phospholipid (PL) as major polar lipids. Strain J2-29T contained summed feature 8, C18 : 1 ω7c 11-methyl and C16 : 0 as major cellular fatty acids and PE, PME, PG and PL as major polar lipids. The genomic DNA G+C contents of strains G2-23T and J2-29T were 59.5 and 62.2 mol%, respectively. Both strains shared 97.9 % 16S rRNA gene sequence similarity, 79.8 % average nucleotide identity (ANI) and 22.8 % digital DNA-DNA hybridization (dDDH) values, indicating that they represent different species. Phylogenetic and phylogenomic analyses by 16S rRNA gene and genome sequences, respectively, revealed that strains G2-23T and J2-29T formed different phylogenic lineages within the genus Hoeflea. ANI and dDDH values between strains G2-23T and J2-29T and other Hoeflea type strains were less than 79.0 and 22.1% and 80.5 and 23.3 %, respectively, suggesting that they represent novel species of the genus Hoeflea. In summary, based on their phenotypic, chemotaxonomic and molecular properties, strains G2-23T and J2-29T represent two different novel species of the genus Hoeflea, for which the names Hoeflea algicola sp. nov. (G2-23T=KACC 22714T=JCM 35548T) and Hoeflea ulvae sp. nov. (J2-29T=KACC 22715T=JCM 35549T), respectively, are proposed.


Asunto(s)
Gammaproteobacteria , Phyllobacteriaceae , Composición de Base , Ácidos Grasos/química , Filogenia , ARN Ribosómico 16S/genética , Análisis de Secuencia de ADN , ADN Bacteriano/genética , Técnicas de Tipificación Bacteriana , Fosfolípidos , Nucleótidos
15.
Artículo en Inglés | MEDLINE | ID: mdl-36748596

RESUMEN

Two Gram-stain-negative, strictly aerobic, catalase- and oxidase-positive and non-motile rod-shaped bacteria, strains D2-3T and G9-8T, were isolated from a marine red alga. Both strains contained ubiquinone-10 as the sole isoprenoid quinone. As the major cellular fatty acids (>5.0 %), D2-3T contained C16 : 0, 11-methyl-C18 : 1ω7c, summed feature 3 (C16 : 1ω7c and/or C16 : 1ω6c), and summed feature 8 (C18 : 1ω7c and/or C18 : 1ω6c), whereas G9-8T contained C16 : 0, 11-methyl-C18 : 1ω7c, C12 : 1 3-OH, and summed feature 8. The DNA G+C contents of D2-3T and G9-8T were 54.4 % and 56.0 %, respectively. As the major polar lipids, phosphatidylglycerol, diphosphatidylglycerol and unidentified phospholipid, aminolipid and lipid were identified from both strains, and phosphatidylcholine was additionally detected from G9-8T only. The 16S rRNA gene sequence similarity of D2-3T and G9-8T was 98.5 % and their digital DNA-DNA hybridization (DDH) value was 19.1 %. Phylogenetic analyses based on 16S rRNA gene and genome sequences revealed that D2-3T and G9-8T formed respectively distinct phylogenetic lineages within the genus Octadecabacter. D2-3T and G9-8T were most closely related to Octadecabacter ascidiaceicola RA1-3T and Octadecabacter antarcticus 307T, with 98.9 % and 98.5 % 16S rRNA gene sequence similarities, respectively, and digital DDH values between D2-3T and O. ascidiaceicola and between G9-8T and O. antarcticus were 18.3 % and 19.5 %, respectively. Phenotypic, chemotaxonomic and molecular features support the hypothesis that D2-3T and G9-8T represent two novel species of the genus Octadecabacter, for which the names Octadecabacter algicola sp. nov. and Octadecabacter dasysiphoniae sp. nov. are proposed. The type strains of O. algicola and O. dasysiphoniae are D2-3T (=KACC 22493T =JCM 34969T) and G9-8T (=KACC 22488T =JCM 34973T), respectively.


Asunto(s)
Filogenia , Rhodobacteraceae , Rhodophyta , Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano/genética , Ácidos Grasos/química , Fosfolípidos , Rhodophyta/microbiología , ARN Ribosómico 16S/genética , Análisis de Secuencia de ADN , Ubiquinona/química , Rhodobacteraceae/clasificación , Rhodobacteraceae/aislamiento & purificación
16.
Artículo en Inglés | MEDLINE | ID: mdl-37093737

RESUMEN

Two Gram-stain-negative, facultative aerobic, catalase- and oxidase-positive, and non-motile rod bacteria, strains BLT and W38T, that were isolated from soil and freshwater, respectively, were taxonomically characterized. Both strains optimally grew at 30 °C and pH 7.0 in Reasoner's 2A medium and contained ubiquinone-8 as the sole respiratory quinone. As major fatty acids (>10 %), strain BLT contained iso-C15 : 0 and summed features 3 and 9 (comprising iso-C15 : 0 2-OH and/or C16 : 1 ω7c/ω6c and iso-C17 : 1 ω9c and/or C16 : 0 10-methyl, respectively), whereas strain W38T contained iso-C15 : 0, iso-C16 : 0 and summed feature 9. Diphosphatidylglycerol and phosphatidylmonomethylethanolamine as major polar lipids and phosphatidylethanolamine and phosphatidylglycerol as minor polar lipids were detected in both strains. The DNA G+C contents of strains BLT and W38T were 68.3 and 65.3 %, respectively. Phylogenetic analyses based on 16S rRNA gene and genome sequences revealed that strains BLT and W38T formed a tight phylogenetic lineage with Tahibacter species, and they shared 98.8 % 16S rRNA gene sequence similarity and 75.5 % average nucleotide identity (ANI) and 16.6 % digital DNA-DNA hybridization (dDDH) values, indicating that they are different species. Strains BLT and W38T were most closely related to Tahibacter caeni BUT-6T and Tahibacter aquaticus PYM5-11T with 97.7 and 98.0 % 16S rRNA gene sequence similarities, respectively. ANI and dDDH values between strain BLT and T. caeni BUT-6T and between strain W38T and T. aquaticus DSM 21667T were 78.5 and 21.6% and 75.3 and 21.0 %, respectively. Based on their phenotypic, chemotaxonomic and genomic properties, strains BLT and W38T represent two different novel species of the genus Tahibacter, for which the names Tahibacter soli sp. nov. and Tahibacter amnicola sp. nov. are proposed. The type strains of T. soli and T. amnicola are BLT (=KACC 22831T=JCM 35402T) and W38T (=KACC 22832T=JCM 35749T), respectively.


Asunto(s)
Ácidos Grasos , Fosfolípidos , Ácidos Grasos/química , Fosfolípidos/química , Filogenia , ARN Ribosómico 16S/genética , Suelo , ADN Bacteriano/genética , Análisis de Secuencia de ADN , Composición de Base , Técnicas de Tipificación Bacteriana , Agua Dulce
17.
Artículo en Inglés | MEDLINE | ID: mdl-37078692

RESUMEN

A Gram-stain-negative, yellow-pigmented and facultatively aerobic bacterium, designated strain U1T, was isolated from plastic dumped soil sampled in the Republic of Korea. Cell of strain U1T were non-motile rods showing catalase-negative and oxidase-positive activities. Strain U1T was shown to grow at 10-37 °C (optimum, 25-30 °C) and pH 6.0-9.0 (optimum, pH 8.0), and in the presence of 0-0.5 % (w/v) NaCl (optimum, 0 %). Strain U1T contained iso-C15 : 0, C16 : 0, C16 : 1 ω5c and summed feature 3 (comprising C16 : 1 ω6c and/or C16 : 1 ω7c) as the major cellular fatty acids (>5 %) and menaquinone-7 as the sole respiratory quinone. Phosphatidylethanolamine, two unidentified aminolipids and three unidentified lipids were identified as the major polar lipids. The DNA G+C content of strain U1T calculated from the whole-genome sequence was 45.5 mol%. Phylogenetic analyses based on 16S rRNA gene sequences showed that strain U1T formed a distinct phylogenetic lineage within the genus Dyadobacter. Strain U1T has the highest 16S rRNA sequence similarity to Dyadobacter bucti QTA69T (97.9 %). Average nucleotide identity and digital DNA-DNA hybridization values between strain U1T and D. bucti QTA69T were 74.6 % and 18.9 %, respectively. Based on phenotypic, chemotaxonomic and molecular features, strain U1T represents a novel species of the genus Dyadobacter, for which the name Dyadobacter pollutisoli sp. nov. is proposed. The type strain is U1T (= KACC 22210T=JCM 34491T).


Asunto(s)
Cytophagaceae , Ácidos Grasos , Ácidos Grasos/química , Suelo , Filogenia , ARN Ribosómico 16S/genética , ADN Bacteriano/genética , Composición de Base , Técnicas de Tipificación Bacteriana , Análisis de Secuencia de ADN
18.
Int J Syst Evol Microbiol ; 73(10)2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37830909

RESUMEN

Two Gram-stain-negative, catalase- and oxidase-positive, aerobic non-motile and motile rod bacteria, strains MSW6T and RSW2T, were isolated from surface seawater. Strain MSW6T optimally grew at 20 °C, pH 7.0 and 3 % NaCl, while strain RSW2T optimally grew at 25 °C, pH 7.0-8.0 and 2 % NaCl. Strain MSW6T possessed menaquinone-6 as the major respiratory quinone, and its major fatty acids were iso-C15 : 1 G, iso-C15 : 0 and iso-C15 : 0 3-OH. The major polar lipid identified in strain MSW6T was phosphatidylethanolamine (PE). On the other hand, strain RSW2T had ubiquinone-8 as the predominant respiratory quinone, and its major fatty acids consisted of summed feature 3 (C16 : 1 ω7c and/or C16 : 1 ω6c), summed feature 8 (C18 : 1 ω7c and/or C18 : 1 ω6c) and C16 : 0. The major polar lipids identified in strain RSW2T were PE and phosphatidylglycerol. As the sole respiratory quinone, strain MSW6T possessed menaquinone-6, while strain RSW2T had ubiquinone-8. The DNA G+C contents of strains MSW6T and RSW2T were 31.9 and 43.4 mol%, respectively. Phylogenetic analyses based on 16S rRNA and core gene sequences showed that strain MSW6T formed a phylogenic lineage with Psychroserpens mesophilus KOPRI 13649T, while strain RSW2T formed a phylogenic lineage with Marinomonas primoryensis KMM 3633T. Strain MSW6T shared 97.9 % 16S rRNA gene sequence similarity and 80.7 % average nucleotide identity (ANI) ith P. mesophilus KOPRI 13649T, and strain RSW2T shared 99.1 % 16S rRNA gene sequence similarity and 93.1 % ANI with M. primoryensis KMM 3633T. Based on the results of phenotypic, chemotaxonomic and phylogenetic analyses, strains MSW6T and RSW2T represent novel species of the genera Psychroserpens and Marinomonas, respectively, for which the names Psychroserpens ponticola sp. nov. and Marinomonas maritima sp. nov. are proposed, respectively. The type strain of P. ponticola is MSW6T (=KACC 22338T=JCM 35022T) and the type strain of M. maritima is RSW2T (=KACC 22716T=JCM 35550T).


Asunto(s)
Ácidos Grasos , Marinomonas , Ácidos Grasos/química , Ubiquinona/química , Filogenia , ARN Ribosómico 16S/genética , Vitamina K 2/química , Cloruro de Sodio , ADN Bacteriano/genética , Hibridación de Ácido Nucleico , Composición de Base , Técnicas de Tipificación Bacteriana , Análisis de Secuencia de ADN , Agua de Mar/microbiología , Fosfolípidos/química
19.
Cerebrovasc Dis ; 52(6): 671-678, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36944320

RESUMEN

INTRODUCTION: Suboptimal sleep duration and poor sleep quality have been proposed to increase stroke risk. However, their significance in young ischemic stroke is unclear. We aimed to investigate the importance of sleep duration and quality on young ischemic stroke patients. METHODS: A multicenter matched case-control study was performed to evaluate under-recognized risk factors in young (<45 years) ischemic stroke patients in 8 tertiary hospitals in Korea. A total of 225 patients and 225 age- and sex-matched controls were enrolled in the same period. Detailed information about patients' demographics, socioeconomic state, and traditional and nontraditional risk factors including sleep-related factors were obtained using structured questionnaires. Risk of ischemic stroke was estimated using conditional logistic regression analysis. RESULTS: Although average sleep duration was similar in patients and controls, patients were more likely to have long (≥9 h) or extremely short (<5 h) sleep durations. In addition, the proportion of subjects with dissatisfaction with sleep quality was higher in patients than controls (66.2 vs. 49.3%, p < 0.001). In multivariable conditional logistic regression analysis, long sleep duration (OR: 11.076, 95% CI: 1.819-67.446, p = 0.009) and dissatisfaction with sleep quality (OR: 2.116, 95% CI: 1.168-3.833, p = 0.013) were independently associated with risk of ischemic stroke. CONCLUSIONS: Long sleep duration and dissatisfaction with sleep quality may be associated with increased risk of ischemic stroke in young adults. Improving sleep habit or quality could be important for reducing the risk of ischemic stroke.


Asunto(s)
Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Adulto Joven , Humanos , Accidente Cerebrovascular Isquémico/complicaciones , Calidad del Sueño , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Duración del Sueño , Estudios de Casos y Controles , Satisfacción del Paciente , Sueño , Factores de Riesgo
20.
J Pediatr Gastroenterol Nutr ; 76(5): 596-602, 2023 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-36754081

RESUMEN

OBJECTIVES: Methotrexate (MTX) has been used as maintenance therapy for Crohn disease (CD) in adults and children. However, there are only a few studies on the MTX's effectiveness in thiopurine-naïve CD adult patients and children. This study aimed to evaluate the MTX's effectiveness and safety as first immunomodulator for maintenance therapy in pediatric CD. METHODS: This retrospective cohort study recruited 64 pediatric CD patients treated with MTX as a first-line immunomodulator. Clinical remission (CR) was assessed at weeks 14, 26, and 52. Mucosal healing (MH) was assessed at weeks 26 and 52. RESULTS: Of 64 patients who received MTX, CR was noted in 60.9% at week 14, 29.7% with MH in 68.0% at week 26, and 27.8% with MH in 81.8% at week 52. When comparing age subtypes according to the Paris classification, the CR rate was higher in A1a than in the other subtypes at week 26 (60.0% in A1a, 26.5% in A1b, 0% in A2; P = 0.038). There were no differences in disease location, behavior, or perianal involvement. Adverse effects were noted in 30 of 64 (46.9%) patients, including 1 patient who stopped MTX before 26 weeks owing to side effects; increased liver enzymes in 25 (39.0%) patients, leukopenia in 5 (7.8%), nausea in 5 (7.8%), skin erosion in 1 (1.6%), and headache in 1 (1.6%). CONCLUSION: MTX as a first-line immunomodulator may be an effective and safe maintenance therapy for pediatric CD patients.


Asunto(s)
Enfermedad de Crohn , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Adulto , Humanos , Niño , Recién Nacido , Metotrexato , Enfermedad de Crohn/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Estudios Retrospectivos , Resultado del Tratamiento , Inducción de Remisión , Factores Inmunológicos/uso terapéutico
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