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1.
Front Med (Lausanne) ; 10: 1280564, 2023.
Article in English | MEDLINE | ID: mdl-38034549

ABSTRACT

Introduction: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retinoschisis have been well investigated, those of peripheral retinoschisis have rarely been reported. This study aimed to report the ultra-widefield OCT findings of the peripheral retina in patients with XLRS. Methods: Medical records of 10 Japanese patients (19 eyes) with clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, and OCT findings were reviewed and evaluated. Some were also genetically evaluated for the RS1 gene. Results: OCT of the macula revealed schises and/or cystoid changes in the inner nuclear layer (INL) and outer nuclear layer. In contrast, OCT of the peripheral retina revealed schises and/or cystoid changes in the INL in eight eyes (44%), and/or splitting in the ganglion cell layer (GCL) in 10 (56%) of the 18 eyes with clear OCT images. No schisis or cystoid changes were found in the peripheral OCT images of eight eyes (44%). A 16-year-old boy presented with retinal splitting of the GCL and INL of the inferior retina, although he had no ophthalmoscopic peripheral retinoschisis. Genetic examinations were performed on three patients, all of whom had reported missense mutations in the RS1 gene. Conclusion: In XLRS, peripheral bullous retinoschisis results from GCL splitting in the retina. One of the 10 patients with XLRS showed intraretinal retinoschisis in the GCL in the inferior periphery, which was unremarkable on ophthalmoscopy (occult retinoschisis). Although both peripheral bullous retinoschisis and occult retinoschisis showed splitting/cystic changes in the GCL, further studies are needed to determine whether occult retinoschisis progresses to bullous retinoschisis.

2.
J Food Biochem ; 46(7): e14148, 2022 07.
Article in English | MEDLINE | ID: mdl-35315086

ABSTRACT

This study aims to investigate the vasorelaxation effects of a Rosa centifolia petal extract (ROSE CRYSTA®-70: ROSE-70) on the isolated aorta and the protective effect of ROSE-70 on human umbilical vein endothelial cells (HUVECs) dysfunction. ROSE-70 inhibited phenylephrine (PE) -induced contraction in an endothelium-dependent and endothelium-independent manner; however, this relaxation was lower in the endothelium-denuded aorta. ROSE-70-induced relaxation was attenuated by L-NG -nitroarginine methyl ester (L-NAME), a nitric oxide synthase inhibitor in the endothelium-intact aorta. Moreover, the relaxation in the endothelium-denuded aorta in response to increases in cAMP was inhibited by SQ22536, an adenylate cyclase inhibitor, and this relaxation was also attenuated by 4-aminopyridine, a voltage-activated K+ channel inhibitor. ROSE-70 contains high concentrations of quercetin, rutin, and other compounds. Pure quercetin and rutin also inhibited PE-induced contraction in an endothelium-dependent manner, although rutin-induced relaxation was milder in the endothelium-denuded aorta. ROSE-70 significantly increased the phosphorylation (at Ser1177) of eNOS in HUVECs. Moreover, ROSE-70 potently suppressed high glucose- and H2 O2 -induced accumulation of tumor necrosis factor-α (TNF-α) and nuclear factor-kappa B (NF-κB) were investigated in human umbilical vein endothelial cells (HUVECs). In this study, we defined the mechanism of ROSE-70-induced vasorelaxation in rat aorta and demonstrated that ROSE-70 has anti-inflammatory effects in endothelial cells. PRACTICAL APPLICATIONS: Endothelial cells play a role in vascular homeostasis. Endothelial dysfunction is caused by a variety of risk factors such as hypertension, arteriosclerosis, hyperglycemia, and oxidative stress. ROSE-70 is a food ingredient and the powdered form of an extract from the rose petal with >70% of the content corresponding to rose petal polyphenols such as rutin, quercetin, and protocatechuic acid. This study revealed that vasorelaxation effects of ROSE-70 and the protective role of ROSE-70 on the dysfunction of endothelial cells by high glucose and superoxides were investigated for the first time. We showed the mechanisms of ROSE-70- induced endothelium-dependent vasorelaxation and the protective effects of endothelial cells from high glucose and superoxide. ROSE-70 has been shown to have antiaging, skin elasticity-enhancing, skin-lightening, anti-allergic, sugar-absorbing, and lipolytic effects (URL: https://www.toyohakko-healthcare. com/en/rose_crysta70/). Therefore, the authors believe that ROSE-70 is an excellent food ingredient that has preventive and antiaging effects on lifestyle-related diseases.


Subject(s)
Food Ingredients , Rosa , Animals , Aorta , Aorta, Thoracic , Endothelium , Glucose , Human Umbilical Vein Endothelial Cells , Humans , Nitric Oxide , Plant Extracts/pharmacology , Quercetin/pharmacology , Rats , Rats, Sprague-Dawley , Rutin/pharmacology , Vasodilation
3.
Anim Sci J ; 91(1): e13335, 2020.
Article in English | MEDLINE | ID: mdl-32219932

ABSTRACT

In our previous study, we performed genome-wide association study (GWAS) to identify the genomic region associated with Fat area ratio to rib eye area (FAR) and detected a candidate in BTA7 at 10-30 Mbp. The present study aims to comprehensively detect all polymorphisms in the candidate region using whole-genome resequencing data. Based on whole-genome resequencing of eight animals, we detected 127,090 polymorphisms within the region. Of these, 31,945 were located within the genes. We further narrowed the polymorphisms to 6,044 with more than five allele differences between the high and low FAR groups that were located within 179 genes. We subsequently investigated the functions of these genes and selected 170 polymorphisms in eight genes as possible candidate polymorphisms. We focused on SLC27A6 K81M as a putative candidate polymorphism. We genotyped the SNP in a Japanese Black population (n = 904) to investigate the effect on FAR. Analysis of variance revealed that SLC27A6 K81M had a lower p-value (p = .0009) than the most significant SNP in GWAS (p = .0049). Although only SLC27A6 K81M was verified in the present study, subsequent verification of the remaining candidate genes and polymorphisms could lead to the identification of genes and polymorphisms responsible for FAR.


Subject(s)
Cattle/genetics , Polymorphism, Single Nucleotide , Quantitative Trait Loci/genetics , Whole Genome Sequencing/veterinary , Animals , Genetic Association Studies/methods , Genome-Wide Association Study/veterinary , Japan , Whole Genome Sequencing/methods
4.
Anim Sci J ; 89(8): 1060-1066, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29770990

ABSTRACT

Fatty acid composition is an important indicator of beef quality. The objective of this study was to search the potential candidate region for fatty acid composition. We performed pool-based genome-wide association studies (GWAS) for oleic acid percentage (C18:1) in a Japanese Black cattle population from the Hyogo prefecture. GWAS analysis revealed two novel candidate regions on BTA9 and BTA14. The most significant single nucleotide polymorphisms (SNPs) in each region were genotyped in a population (n = 899) to verify their effect on C18:1. Statistical analysis revealed that both SNPs were significantly associated with C18:1 (p = .0080 and .0003), validating the quantitative trait loci (QTLs) detected in GWAS. We subsequently selected VNN1 and LYPLA1 genes as candidate genes from each region on BTA9 and BTA14, respectively. We sequenced full-length coding sequence (CDS) of these genes in eight individuals and identified a nonsynonymous SNP T66M on VNN1 gene as a putative candidate polymorphism. The polymorphism was also significantly associated with C18:1, but the p value (p = .0162) was higher than the most significant SNP on BTA9, suggesting that it would not be responsible for the QTL. Although further investigation will be needed to determine the responsible gene and polymorphism, our findings would contribute to development of selective markers for fatty acid composition in the Japanese Black cattle of Hyogo.


Subject(s)
Amidohydrolases/genetics , Cattle/genetics , Cattle/metabolism , Genome-Wide Association Study , Meat/analysis , Oleic Acid/analysis , Thiolester Hydrolases/genetics , Animals , Fatty Acids/analysis , Fatty Acids/metabolism , Female , Food Quality , GPI-Linked Proteins/genetics , Genotype , Male , Polymorphism, Single Nucleotide , Quantitative Trait Loci/genetics
5.
Anim Sci J ; 89(5): 743-751, 2018 May.
Article in English | MEDLINE | ID: mdl-29380492

ABSTRACT

The objective of this study was to identify genomic regions associated with fat-related traits using a Japanese Black cattle population in Hyogo. From 1836 animals, those with high or low values were selected on the basis of corrected phenotype and then pooled into high and low groups (n = 100 each), respectively. DNA pool-based genome-wide association study (GWAS) was performed using Illumina BovineSNP50 BeadChip v2 with three replicate assays for each pooled sample. GWAS detected that two single nucleotide polymorphisms (SNPs) on BTA7 (ARS-BFGL-NGS-35463 and Hapmap23838-BTA-163815) and one SNP on BTA12 (ARS-BFGL-NGS-2915) significantly affected fat percentage (FAR). The significance of ARS-BFGL-NGS-35463 on BTA7 was confirmed by individual genotyping in all pooled samples. Moreover, association analysis between SNP and FAR in 803 Japanese Black cattle revealed a significant effect of SNP on FAR. Thus, further investigation of these regions is required to identify FAR-associated genes and mutations, which can lead to the development of DNA markers for marker-assisted selection for the genetic improvement of beef quality.


Subject(s)
Body Fat Distribution , Cattle/genetics , Cattle/metabolism , DNA/genetics , Food Quality , Genome-Wide Association Study , Image Processing, Computer-Assisted/methods , Meat , Polymorphism, Single Nucleotide/genetics , Quantitative Trait Loci/genetics , Rho Guanine Nucleotide Exchange Factors/genetics , Angiopoietin-Like Protein 4/genetics , Animals , Female , Gene Frequency , Genotyping Techniques , Japan , Male , Perilipins/genetics
6.
Jpn J Nurs Sci ; 15(2): 135-145, 2018 Apr.
Article in English | MEDLINE | ID: mdl-28707390

ABSTRACT

AIM: A concept of social capital that accounts for a community's cultural background and incorporates social capital into public health nursing practice are needed. This study aimed to describe the characteristics of social capital in the context of public health nursing in Japan. METHODS: The study interviewed 11 veteran public health nurses from five municipalities across Japan and undertook a qualitative research analysis. A digital voice recorder was used to collect qualitative data by using a background data sheet and semistructured interviews. Trustworthiness in interpreting the data was ensured by conducting 13 additional interviews with residents and collating the two sets of results. RESULTS: All the participants were female: 10 were veterans with ≥15 years' experience. Nine worked in management. The methods yielded six categories: (i) the richness of the interactions among the residents; (ii) the community residents who showed concern for those in need; (iii) community civic activities; (iv) the residents' willingness to contribute to the community; (v) the health promotion volunteers who work alongside the public health nurses; and (vi) an enriched community environment. CONCLUSION: The results contribute to an understanding of social capital in the context of public health nursing activities and further research on social capital. It also is discussed how social capital can be incorporated into public health nursing activities in the future.


Subject(s)
Attitude of Health Personnel , Nurses, Public Health/psychology , Social Capital , Adult , Female , Health Promotion , Humans , Japan , Middle Aged , Qualitative Research
7.
Stem Cell Reports ; 7(6): 1072-1086, 2016 12 13.
Article in English | MEDLINE | ID: mdl-27866876

ABSTRACT

Primordial germ cells (PGCs) are specified from epiblast cells in mice. Genes associated with naive pluripotency are repressed in the transition from inner cell mass to epiblast cells, followed by upregulation after PGC specification. However, the molecular mechanisms underlying the reactivation of pluripotency genes are poorly characterized. Here, we exploited the in vitro differentiation of epiblast-like cells (EpiLCs) from embryonic stem cells (ESCs) to elucidate the molecular and epigenetic functions of PR domain-containing 14 (PRDM14). We found that Prdm14 overexpression in EpiLCs induced their conversion to ESC-like cells even in the absence of leukemia inhibitory factor in adherent culture. This was impaired by the loss of Kruppel-like factor 2 and ten-eleven translocation (TET) proteins. Furthermore, PRDM14 recruited OCT3/4 to the enhancer regions of naive pluripotency genes via TET-base excision repair-mediated demethylation. Our results provide evidence that PRDM14 establishes a transcriptional network for naive pluripotency via active DNA demethylation.


Subject(s)
DNA Methylation/genetics , Octamer Transcription Factor-3/metabolism , Pluripotent Stem Cells/cytology , Pluripotent Stem Cells/metabolism , Transcription Factors/metabolism , Animals , DNA-Binding Proteins/metabolism , Dioxygenases , Enhancer Elements, Genetic/genetics , Female , Gene Expression Profiling , Gene Expression Regulation , Germ Layers/cytology , Kruppel-Like Transcription Factors/metabolism , Mice , Mice, Nude , Models, Biological , Mouse Embryonic Stem Cells/cytology , Mouse Embryonic Stem Cells/metabolism , Proto-Oncogene Proteins/metabolism , RNA-Binding Proteins
8.
Biosci Biotechnol Biochem ; 79(1): 138-46, 2015.
Article in English | MEDLINE | ID: mdl-25266050

ABSTRACT

A new flavanone, shisoflavanone A (1), and several flavonoids were purified from the ethyl acetate-soluble fraction of green perilla leaves (Perilla frutescens Britton var. crispa form viridis), and their structures were identified. Shisoflavanone A was elucidated as 8-hydroxy-6,7-dimethoxyflavanone based on its spectral data. Other constituents of the ethyl acetate-soluble fraction, i.e. 5,8-dihydroxy-7-methoxyflavanone (2), negletein (5,6-dihydroxy-7-methoxyflavone) (3), luteolin (4), apigenin (5), esculetin (6), and protocatechuic acid (7), were identified. This is the first time that constituents 2, 3, and 6 have been found in green perilla. Shisoflavanone A and the other constituents (except 7) significantly inhibited nitric oxide production in interleukin 1ß-stimulated rat hepatocytes, which have been used to monitor the anti-inflammatory effects of herbal constituents. The present findings suggest that these constituents, including shisoflavanone A, may be involved in the anti-inflammatory effects of green perilla leaves.


Subject(s)
Anti-Inflammatory Agents, Non-Steroidal/pharmacology , Antioxidants/pharmacology , Flavanones/pharmacology , Hepatocytes/drug effects , Nitric Oxide/antagonists & inhibitors , Perilla frutescens/chemistry , Animals , Anti-Inflammatory Agents, Non-Steroidal/chemistry , Anti-Inflammatory Agents, Non-Steroidal/isolation & purification , Antioxidants/chemistry , Antioxidants/isolation & purification , Apigenin/chemistry , Apigenin/isolation & purification , Apigenin/pharmacology , Flavanones/chemistry , Flavanones/isolation & purification , Flavones/chemistry , Flavones/isolation & purification , Flavones/pharmacology , Flavonoids/chemistry , Flavonoids/isolation & purification , Flavonoids/pharmacology , Hepatocytes/cytology , Hepatocytes/metabolism , Interleukin-1beta/antagonists & inhibitors , Interleukin-1beta/pharmacology , Luteolin/chemistry , Luteolin/isolation & purification , Luteolin/pharmacology , Male , Nitric Oxide/biosynthesis , Oxidative Stress , Plant Extracts/chemistry , Plant Leaves/chemistry , Primary Cell Culture , Rats , Rats, Wistar , Umbelliferones/chemistry , Umbelliferones/isolation & purification , Umbelliferones/pharmacology
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