• Title/Summary/Keyword: Genetic assessment

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Botulinum Toxin Therapy in a Patient with HHH Syndrome with Gait Disturbance: A Case Report

  • Kim, Dong-Hyun;Choi, Yoon-Hee
    • Journal of The Korean Society of Integrative Medicine
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    • v.9 no.2
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    • pp.105-108
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    • 2021
  • Background : Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. The use of botulinum toxin in metabolic disease has rarely been discussed. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. Case presentation : A 14-year old male had a history of recurrent upper respiratory tract infections, occasional vomiting, loss of appetite, and general weakness, all of which started since he was 10 months old. He was diagnosed with HHH syndrome at one year of age. At the age of 14, he was referred for the assessment and treatment of his gait disturbance and aggravated weakness of the lower extremities. Brain MRI, electrodiagnostic study and blood test were performed to exclude any lesions related to neurologic dysfunction. Botulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance to reduce lower limb spasticity. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. After intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. Conclusion : Botulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.

Anti-inflammatory effect of Distylium racemosum leaf biorenovate extract in LPS-stimulated RAW 264.7 macrophages cells (LPS로 유도된 RAW 264.7 세포에 대한 조록나무 잎 Biorenovation 추출물의 항염증 활성)

  • Hong, Hyehyun;Lee, Kyung-Mi;Park, Taejin;Chi, Won-Jae;Kim, Seung-Young
    • Journal of Applied Biological Chemistry
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    • v.64 no.4
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    • pp.375-382
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    • 2021
  • Biorenovation is a microbial enzyme-based structural modification of component compounds in natural products and synthetic compounds including plant extracts with the potential benefits of improved biological activities compared with its reaction substrates. In this study, we investigated the anti-inflammatory activity of Distylium racemosum leaf extract and D. racemosum leaf biorenovation extract (DLB). As a result, DLB inhibited nitric oxide, prostaglandin E2, and inflammatory cytokines including tumor necrosis factor-α, interleukin-6, interleukin-1β at non-toxic concentrations. In addition, DLB significantly inhibited inducible nitric oxide synthase and cyclooxygenase-2 on LPS-treated RAW 264.7 macrophages. Based on these results, we suggest that the DLB could be used as a potent anti-inflammatory agents. It also suggests that the application of biological evolution has potential usefulness to increase the practical value of natural products.

Molecular and Morphological Evidence of Hepatotoxicity after Silver Nanoparticle Exposure: A Systematic Review, In Silico, and Ultrastructure Investigation

  • Sooklert, Kanidta;Wongjarupong, Asarn;Cherdchom, Sarocha;Wongjarupong, Nicha;Jindatip, Depicha;Phungnoi, Yupa;Rojanathanes, Rojrit;Sereemaspun, Amornpun
    • Toxicological Research
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    • v.35 no.3
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    • pp.257-270
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    • 2019
  • Silver nanoparticles (AgNPs) have been widely used in a variety of applications in innovative development; consequently, people are more exposed to this particle. Growing concern about toxicity from AgNP exposure has attracted greater attention, while questions about nanosilver-responsive genes and consequences for human health remain unanswered. By considering early detection and prevention of nanotoxicology at the genetic level, this study aimed to identify 1) changes in gene expression levels that could be potential indicators for AgNP toxicity and 2) morphological phenotypes correlating to toxicity of HepG2 cells. To detect possible nanosilver-responsive genes in xenogenic targeted organs, a comprehensive systematic literature review of changes in gene expression in HepG2 cells after AgNP exposure and in silico method, connection up- and down-regulation expression analysis of microarrays (CU-DREAM), were performed. In addition, cells were extracted and processed for transmission electron microscopy to examine ultrastructural alterations. From the Gene Expression Omnibus (GEO) Series database, we selected genes that were up- and down-regulated in AgNPs, but not up- and down-regulated in silver ion exposed cells, as nanosilver-responsive genes. HepG2 cells in the AgNP-treated group showed distinct ultrastructural alterations. Our results suggested potential representative gene data after AgNPs exposure provide insight into assessment and prediction of toxicity from nanosilver exposure.

Association Between Trp64arg Polymorphism of the β3 adrenoreceptor Gene and Female Sex in Obese Turkish Children and Adolescents

  • Yilmaz, Resul;Ates, Omer;Gul, Ali;Kasap, Tuba;Ozer, Samet;Ensari, Emel
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.5
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    • pp.460-469
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    • 2019
  • Purpose: The ${\beta}3-adrenergic$ receptor (ADRB3) is expressed in visceral adipose tissue and has been speculated to contribute to lipolysis, energy metabolism, and regulation of the metabolic rate. In this study, we aimed to investigate the association of polymorphism of the ADRB3 gene with the sex of children with obesity and related pathologies. Methods: ADRB3 gene trp64arg genotyping was conducted in 441 children aged 6-18 years. Among these subjects, 264 were obese (103 boys; 161 girls) and 179 were of normal weight (81 boys; 98 girls). In the obese group, fasting lipids, glucose and insulin levels, and blood pressure were measured. Metabolic syndrome (MS) was defined according to the modified World Health Organization criteria adapted for children. Results: The frequency of trp64arg genotype was similar in obese and normal weight children. In obese children, serum lipid, glucose, and insulin levels; homeostasis model assessment of insulin resistance (HOMA-IR) scores; and MS were not different between arg allele carriers (trp64arg) and noncarriers (trp64trp). In 264 obese children, genetic analysis results revealed that the arg allele carriers were significantly higher in girls than in boys (p=0.001). In the normal weight group, no statistically significant difference was found between genotypes of boys and girls (p=0.771). Conclusion: Trp64arg polymorphism of the ADRB3 gene was not associated with obesity and MS in Turkish children and adolescents. Although no relationships were observed between the genotypes and lipids, glucose/insulin levels, or HOMA-IR, the presence of trp64arg variant was frequent in obese girls, which can lead to weight gain as well as difficulty in losing weight in women.

Safety Assessment of Lactiplantibacillus (formerly Lactobacillus) plantarum Q180

  • Kwon, Yoo Jin;Chun, Byung Hee;Jung, Hye Su;Chu, Jaeryang;Joung, Hyunchae;Park, Sung Yurb;Kim, Byoung Kook;Jeon, Che Ok
    • Journal of Microbiology and Biotechnology
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    • v.31 no.10
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    • pp.1420-1429
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    • 2021
  • The safety of the probiotic strain Q180, which exerts postprandial lipid-lowering effects, was bioinformatically and phenotypically evaluated. The genome of strain Q180 was completely sequenced, and single circular chromosome of 3,197,263 bp without any plasmid was generated. Phylogenetic and related analyses using16S rRNA gene and whole-genome sequences revealed that strain Q180 is a member of Lactiplantibacillus (Lp., formerly Lactobacillus) plantarum. Antimicrobial resistance (AMR) genes were bioinformatically analyzed using all Lp. plantarum genomes available in GenBank, which showed that AMR genes are present differently depending on Lp. plantarum strains. Bioinformatic analysis demonstrated that some mobile genetic elements such as prophages and insertion sequences were identified in the genome of strain Q180, but because they did not contain harmful genes such as AMR genes and virulence factor (VF)- and toxin-related genes, it was suggested that there is no transferability of harmful genes. The minimum inhibition concentrations of seven tested antibiotics suggested by the European Food Safety Authority guidelines were slightly lower than or equal to the microbiological cut-off values for Lp. plantarum. Strain Q180 did not show hemolytic and gelatinase activities and biogenic amine-producing ability. Taken together, this study demonstrated the safety of strain Q180 in terms of absence of AMR genes and VF- and toxin-related genes as a probiotic strain.

Safety Assessment of Bifidobacterium breve BB077 as Probiotics (프로바이오틱스 Bifidobacterium breve BB077 안전성 평가)

  • Woo, Jang-Bin;Han, Ji Yoon;Seo, Eunsol;Seo, MinYeong;Kim, Byung-Yong
    • Journal of Food Hygiene and Safety
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    • v.37 no.5
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    • pp.306-309
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    • 2022
  • Probiotics are live microorganisms that confer health benefits onto the host when administered at adequate doses. Most widely used probiotics, such as lactobacilli and bifidobacteria, are known to be elements of healthy gut microflora and hence are not considered a threat to the host. However, probiotics may pose a risk in certain populations with compromised immune systems or defects in gut barrier functions. Herein, we evaluated the safety of Bifidobacterium breve BB077, according to the safety evaluation guidelines for probiotics produced by the National Institute of Food and Drug Safety Evaluation (NIFDS). The results show that B. breve BB077 is both non-hemolytic and non-cytolytic. In contrast, B. breve BB077 exhibited higher streptomycin and tetracycline resistance than the suggested NIFDS standard cut-off values. Hence, a genetic analysis of the streptomycin and tetracycline resistance genes was performed to determine the origin of antimicrobial resistance. Streptomycin and tetracycline resistance was shown have arisen from chromosomal mutations and considered intrinsic to the taxonomic group. In conclusion, the B. breve BB077 strain might be safe for human consumption.

Comprehensive Review of Indigenous Yeast Species in Korea: A Literature and Culture Collection Analysis (문헌 및 기탁 균주 현황분석을 통한 자생 효모 목록)

  • Ahn, Chorong;Kim, Minkyeong;Kim, Changmu
    • The Korean Journal of Mycology
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    • v.49 no.2
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    • pp.211-242
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    • 2021
  • Indigenous yeasts in Korea have been actively studied since 1910 in light of various fields, including environment, food fermentation, brewing, and medicine. However, a complete list of indigenous yeast species has not been addressed or reported. In this study, a comprehensive analysis of the literature including yeast isolation from Korean materials and the strains preserved at culture collections was performed. The results of this study indicate the following: i) there are 128 genera and 681 species (including 26 variants) of yeast reported in Korea, ii) the reported species were trimmed into 142 genera and 500 species (including 9 variants), iii) among which only 166 species were registered in the National Species List of Korea (2020). Therefore, follow-up studies are required to register more indigenous yeast species in the National Species List of Korea.

Two Unrecorded Apiospora Species Isolated from Marine Substrates in Korea with Eight New Combinations (A. piptatheri and A. rasikravindrae)

  • Kwon, Sun Lul;Cho, Minseo;Lee, Young Min;Kim, Changmu;Lee, Soo Min;Ahn, Byoung Jun;Lee, Hanbyul;Kim, Jae-Jin
    • Mycobiology
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    • v.50 no.1
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    • pp.46-54
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    • 2022
  • Although Apiospora Sacc. has previously been considered a sexual morph of Arthrinium species on the basis of phylogenetic, morphological, and ecological diagnoses, a recent study delimited these as different species. Recently, 14 species, including eight new species, of marine Arthrinium have been reported from Korea. Six known species have previously been renamed as species in the genus Apiospora (A. arundinis, A. marii, A. piptatheri, A. rasikravindrae, A. sacchari, and A. saccharicola). However, the eight new species of marine Arthrinium (Ar. agari, Ar. arctoscopi, Ar. fermenti, Ar. koreanum, Ar. marinum, Ar. pusillispermum, Ar. sargassi, and Ar. taeanense) are yet to be studied, and thus the taxonomic status of these species remains to be clarified. In this study, we conducted phylogenetic analyses using the internal transcribed spacer, 28S large subunit ribosomal RNA gene, translation elongation factor 1-alpha, and beta-tubulin regions to confirm the phylogenetic position of these eight species. Based on these analyses, we re-identified the eight Arthrinium species as new combinations in Apiospora. Additionally, among the six known Apiospora species, two (A. piptatheri and A. rasikravindrae) have not previously been recorded in Korea. On the basis of morphological and molecular analyses, we report these as new species in Korea. Herein, we present scanning electron micrographs detailing the morphologies of these species, along with phylogenetic trees and detailed descriptions.

The first record of Ulva adhaerens(Ulvaceae, Chlorophyta) from Jeju Island, Korea

  • Hyung Woo, Lee;Eun Hee, Bae;Myung Sook, Kim
    • Journal of Species Research
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    • v.11 no.4
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    • pp.266-277
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    • 2022
  • The current surveys of Ulva in the subtidal area around Jeju Island give a chance to discover unrecorded green algal species of the Korean macroalgal flora. As a result of this investigation, we found Ulva adhaerens Matusmoto & Shimada, inhabiting the subtidal regions, up to 15 m deep, and conducted the DNA barcoding on plastid rbcL-3P and tufA regions with describing the morphological characteristics. Our specimens of U. adhaerens forms a monophyletic clade with the Japanese type specimen and U. piritoka Ngāti Kuri, Heesch & W.A. Nelson from New Zealand exhibiting each 0.3% sequence divergences, respectively, in the plastid rbcL-3P. The genetic variation of U. adhaerens clade is 1.0-3.9% in rbcL-3P and 4.8-9.8% in tufA to each Ulva species, including the generic type, U. lactuca Linneaus. The morphology of Korean U. adhaerens specimens is identical to the type specimens of U. adhaerens from Japan having the development of rhizoidal filaments from both of the cell layers of the distromatic blade and the extension of rhizoidal clumps with adhesive trait between blades by extended rhizoidal clumps at the basal blades. The thallus attachment to substrate is by numerous minute discoidal plates made up of rhizoids originating from the inner part of distromatic blades in basal. Although there are still some problems to resolve the relationship between U. adhaerens and U. piritoka in the rbcL dataset and the phylogenetic pattern of the Group II intron of rbcL, we propose the new record of U. adhaerens in Korean macroalgal flora based on the morphological characteristics of Korean specimens. Continued study of the genus Ulva by morphological and molecular assessment will delimit the species of Ulva, elucidate the relationships between them, and uncover the species diversity.

Classification and Spatial Variability Assessment of Selected Soil Properties along a Toposequence of an Agricultural Landscape in Nigeria

  • Fawole Olakunle Ayofe;Ojetade Julius Olayinka;Muda Sikiru Adekoya;Amusan Alani Adeagbo
    • Journal of Forest and Environmental Science
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    • v.39 no.3
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    • pp.180-194
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    • 2023
  • This study characterize, classify and evaluates the function of topography on spatial variability of some selected soil properties to assist in designing land management that support uniform agricultural production. The study site, an agricultural land, was part of the derived savanna zone in southwest Nigeria. Four soil profile pits each were established along two delineated toposequence and described following the FAO/UNESCO guidelines. Samples were collected from the identified genetic horizons. Properties of four soil series developed on different positions of the two delineated Toposequence viz upper, middle, lower slopes and valley bottom positions respectively were studied. The soil samples were analysed for selected physical and chemical properties and data generated were subjected to descriptive and inferential statistics. The results showed that soil colour, depth and texture varied in response to changes in slope position and drainage condition. The sand content ranged from 61 to 90% while the bulk density ranged between 1.06 g cm-3 to 1.68 g cm-3. The soils were neutral to very strongly acid with low total exchangeable bases. Available phosphorus value were low while the extractable micronutrient concentration varied from low to medium. Soils of Asejire and Iwo series mapped in the study area were classified as Typic isohyperthermic paleustult, Apomu series as Plinthic isohyperthermic paleustult and Jago series as Aquic psamment (USDA Soil Taxonomy). These soils were correlated as Lixisol, Plinthic Lixisol and Fluvisol (World Reference Based), respectively. Major agronomic constraints of the soils associations mapped in the study area were nutrient availability, nutrient retention, slope, drainage, texture, high bulk density and shallow depth. The study concluded that the soils were not homogenous, shows moderate spatial variation across the slope, had varying potentials for sustainable agricultural practices, and thus, the agronomic constraints should be carefully addressed and managed for precision agriculture.