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1.
Braz. j. biol ; 84: e259094, 2024. tab, graf
Article in English | LILACS-Express | MEDLINE, LILACSEXPRESS, LILACS, VETINDEX | ID: biblio-1364533

ABSTRACT

Abstract Due to extensive application of antibiotics as growth promoters in animal feed, antimicrobial resistance has been increased. To overcome this challenge, rumen microbiologists search for new probiotics to improve the rate of livestock production. The present study was aimed to isolate and evaluate breed-specific lactic acid bacteria (LAB) as potential animal probiotics. The current study was conducted during 10 months from July 2020 to April 2021, in which a total of n=12 strains were isolated from different samples including milk, rumen, and feces of Nilli Ravi Buffaloes. These isolates were evaluated for their antimicrobial potential against common animal pathogens (Bacillus spp., E. coli, Staphylococcus aureus, Salmonella spp., Listeria spp.). All the isolates were identified using 16S rRNA gene sequencing and the phylogenetic analyses inferred that these strains showed close relations to the species of various genera; Enterococcus lactis, Pediococcus pentosaceus, Bacillus subtilis Weissella cibaria, Weissella soli, Bacillus tequilensis, Weissella bombi, Bacillus licheniformis, Lactococcus lactis, Bacillus megaterium, Lactobacillus ruminis, and Lactococcus lactis. NMCC-Ru2 has exhibited the enormous potential of antimicrobial activity, 28 mm, for Salmonella typhimurium;23 mm for Listeria monocytogenes 21 mm for E.coil. Highest resistance was seen in NMCC-Ru2 agasint test antbiotic, like 25.5 mm for Tetracycline. Overall results revesl that the probiotic profile of isolates was achieved using standard criteria, particularly with animal probiotic properties


Resumo Devido à extensa aplicação de antibióticos como promotores de crescimento na alimentação animal, a resistência aos antimicrobianos aumentou. Para superar esse desafio, os microbiologistas do rúmen buscam novos probióticos para melhorar a produtividade do gado. O presente estudo teve como objetivo isolar e avaliar bactérias lácticas específicas de raças (BAL) como potenciais probióticos animais. 12 cepas foram isoladas de diferentes amostras, incluindo leite, rúmen e fezes de búfalos Nilli Ravi. Esses isolados foram avaliados quanto ao seu potencial antimicrobiano contra patógenos animais comuns (Bacillus spp., E. coli, Staphylococcus aureus, Salmonella spp., Listeria spp.). Todos os isolados foram identificados por meio do sequenciamento do gene 16S rRNA e as análises filogenéticas inferiram que essas cepas apresentaram estreita relação com as espécies de vários gêneros; Enterococcus lactis, Pediococcus pentosaceus, Bacillus subtilis, Weissella cibaria, Weissella soli, Bacillus tequilensis, Weissella bombi, Bacillus licheniformis, Lactococcus lactis, Bacillus megaterium, Lactobacillus ruminis e Lactococcus lactis. O perfil probiótico dos isolados foi obtido usando critérios padrão, particularmente com propriedades probióticas animais.

2.
Braz. j. biol ; 82: e250700, 2022.
Article in English | MEDLINE, LILACS, VETINDEX | ID: biblio-1278476

ABSTRACT

Abstract The mutations are genetic changes in the genome sequences and have a significant role in biotechnology, genetics, and molecular biology even to find out the genome sequences of a cell DNA along with the viral RNA sequencing. The mutations are the alterations in DNA that may be natural or spontaneous and induced due to biochemical reactions or radiations which damage cell DNA. There is another cause of mutations which is known as transposons or jumping genes which can change their position in the genome during meiosis or DNA replication. The transposable elements can induce by self in the genome due to cellular and molecular mechanisms including hypermutation which caused the localization of transposable elements to move within the genome. The use of induced mutations for studying the mutagenesis in crop plants is very common as well as a promising method for screening crop plants with new and enhanced traits for the improvement of yield and production. The utilization of insertional mutations through transposons or jumping genes usually generates stable mutant alleles which are mostly tagged for the presence or absence of jumping genes or transposable elements. The transposable elements may be used for the identification of mutated genes in crop plants and even for the stable insertion of transposable elements in mutated crop plants. The guanine nucleotide-binding (GTP) proteins have an important role in inducing tolerance in rice plants to combat abiotic stress conditions.


Resumo Mutações são alterações genéticas nas sequências do genoma e têm papel significativo na biotecnologia, genética e biologia molecular, até mesmo para descobrir as sequências do genoma de um DNA celular junto com o sequenciamento do RNA viral. As mutações são alterações no DNA que podem ser naturais ou espontâneas e induzidas devido a reações bioquímicas ou radiações que danificam o DNA celular. Há outra causa de mutações, conhecida como transposons ou genes saltadores, que podem mudar sua posição no genoma durante a meiose ou a replicação do DNA. Os elementos transponíveis podem induzir por si próprios no genoma devido a mecanismos celulares e moleculares, incluindo hipermutação que causou a localização dos elementos transponíveis para se moverem dentro do genoma. O uso de mutações induzidas para estudar a mutagênese em plantas cultivadas é muito comum, bem como um método promissor para a triagem de plantas cultivadas com características novas e aprimoradas para a melhoria da produtividade e da produção. A utilização de mutações de inserção por meio de transposons ou genes saltadores geralmente gera alelos mutantes estáveis ​​que são marcados quanto à presença ou ausência de genes saltadores ou elementos transponíveis. Os elementos transponíveis podem ser usados ​​para a identificação de genes mutados em plantas de cultivo e até mesmo para a inserção estável de elementos transponíveis em plantas de cultivo mutadas. As proteínas de ligação ao nucleotídeo guanina (GTP) têm papel importante na indução de tolerância em plantas de arroz para combater as condições de estresse abiótico.


Subject(s)
Oryza/genetics , Phenotype , DNA Transposable Elements/genetics , Gene Expression , Guanosine Triphosphate
3.
Article in Chinese | WPRIM | ID: wpr-909819

ABSTRACT

Objective:To investigate the viral molecular mutations of 2019 novel coronavirus (2019-nCoV) and host adaptability in Suzhou City.Methods:The throat swab specimens from nine local cases and six imported cases with 2019-nCoV viral nucleic acid test positive in Suzhou City were sequenced for the whole genome of the virus, and the Wuhan-Hu-1 strain was used as the reference sequence for alignment and analysis. The phylogenetic tree of the viral whole genome sequence was constructed by MEGA 7.0 software.Results:According to the Chinese typing method, Nextstrain typing method, Pangolin classification method and Global Initiative on Sharing All Influenza Data (GISAID) typing method, the 15 2019-nCoV genome sequences could be divided into seven types, six types, eight types and five subtypes, respectively. Compared with Wuhan-Hu-1 strain, the median number of amino acid sequence mutation sites based on nucleotide translation was three (ranging from 0 to 12). D614G mutation of spike protein was identified from all six imported viral strains, which could enhance the transmissibility. No Alpha, Beta, or Gamma mutants, which also could enhance the transmissibility, was found in the genomic sequences of the imported cases. The median number of nucleotide mutation sites in 15 sequences was eight (ranging from three to 23).Conclusions:2019-nCoV is constantly mutating, and a variety of evolutionary lineages/genotypes have been derived. All imported viruses in Suzhou City carry mutations that can increase infectivity.

4.
Organ Transplantation ; (6): 692-2021.
Article in Chinese | WPRIM | ID: wpr-904552

ABSTRACT

Objective To evaluate the effect of liver transplantation on intestinal microflora in children with biliary atresia. Methods The fecal samples and liver function indexes of 16 children with biliary atresia before and 6 months after liver transplantation were collected, and 10 healthy children were selected as the healthy controls. DNA extraction and metagenome sequencing were carried out in the fecal samples. Statistical analysis was performed by software packages, such as R language. The changes of species structure and functional composition of intestinal microflora after liver transplantation were analyzed. The recovery of intestinal microflora in children with biliary atresia after liver transplantation was assessed. The relationship between intestinal microflora and liver function indexes was investigated. Results Following liver transplantation, the number of species of intestinal microflora in children with biliary atresia was increased. The opportunistic pathogens were the dominant species of intestinal microflora in children with biliary atresia before liver transplantation. The abundance of opportunistic pathogens was decreased and the abundance of short-chain fatty acid-producing bacteria was increased after liver transplantation (all P < 0.05). Following liver transplantation, lipid metabolism, amino acid metabolism, carbohydrate metabolism, energy metabolism, metabolism of cofactors and vitamins were enhanced, whereas infectious diseases of bacterial, immune diseases and drug resistance were weakened. Compared with the healthy control group, there were no statistically significant differences in the diversity and structure of intestinal microflora in the post-liver transplant group, but different species were observed between two groups. The liver function indexes of children with biliary atresia after liver transplantation tended to decline (all P < 0.000 1). The abundance of beneficial intestinal microflora was negatively correlated with liver function indexes, whereas the abundance of opportunistic pathogens was positively correlated with liver function indexes (all P < 0.05). Conclusions Liver transplantation may significantly improve the structure and functional composition of intestinal microflora in children with biliary atresia.

5.
Rev. Soc. Bras. Med. Trop ; 54: e0728-2020, 2021. tab, graf
Article in English | LILACS | ID: biblio-1155535

ABSTRACT

Abstract INTRODUCTION: Mycobacterium tuberculosis (MTB) is a causative agent of tuberculosis (TB) that causes death worldwide. METHODS: MTB was subjected to phenotypic drug-susceptibility tests (DST), and drug-resistant genes were sequenced. RESULTS: Previously treated patients were more likely to have positive smear results and exhibit drug resistance. New patients were more likely to be mono SM-resistant and less likely to be INH- and RIF-resistant. The most common mutations were katG (S315T), rpoB (S450L), rpsL (K43R), and embB (M306V). CONCLUSIONS: The proportion of mono-SM-resistant TB among new patients was higher.


Subject(s)
Humans , Pharmaceutical Preparations , Tuberculosis, Multidrug-Resistant , Mycobacterium tuberculosis/genetics , Bacterial Proteins/genetics , Microbial Sensitivity Tests , China , Mutation , Antitubercular Agents/pharmacology
6.
Rev. cuba. hematol. inmunol. hemoter ; 36(3): e1243, jul.-set. 2020.
Article in Spanish | LILACS, CUMED | ID: biblio-1156443

ABSTRACT

Las neoplasias hematológicas se caracterizan por un gran número y complejidad de alteraciones genéticas, desde la formación de genes de fusión a partir de translocaciones e inversiones cromosómicas hasta mutaciones génicas y alteraciones epigenéticas que han permitido la identificación de nuevos oncogenes y genes supresores de tumores responsables de su etiología. Al abordar el estudio genético de las leucemias se utilizan múltiples técnicas como la citogenética convencional, citogenética molecular (hibridaciónin situ por fluorescencia (FISH), esta última con una mayor sensibilidad, especificidad y rapidez que permiten el diagnóstico, la estratificación pronóstica y seguimiento de la enfermedad. Las técnicas anteriores se integran con técnicas de biología molecular, secuenciación génica, entre otras, que permiten el hallazgo de nuevos marcadores genéticos con una mejor caracterización de las hemopatías malignas y la posibilidad del desarrollo de nuevos fármacos específicos que actúen sobre la diana molecular. El objetivo fue revisar la utilidad de la citogenética y la secuenciación génica en el estudio de la leucemia mieloide aguda y la leucemia linfocítica crónica. Ante las ventajas, desventajas y limitaciones de estas técnicas genéticas es necesario utilizarlas de forma complementaria y nunca excluyente(AU)


Hematological neoplasms are characterized by a large number and great complexity of genetic disorders, from the formation of fusion genes after chromosomal translocations and inversions to gene mutation and epigenetic disorders that have permitted the identification of new oncogenes and tumor-suppressing genes responsible for their etiology. When addressing the genetic study of leukemias, multiple techniques are used, such as conventional cytogenetics, molecular cytogenetics, and fluorescence in situ hybridization (FISH), the latter having the higher degree of sensitivity, specificity and speed, which allow diagnosis, prognostic stratification and follow-up of the disease. The previous techniques are integrated with molecular biology techniques, gene sequencing, among others, which allow discovery of new genetic markers with better characterization of malignant hemopathies and the possibility of developing new specific drugs against the molecular target. The objective was to review the usefulness of cytogenetics and gene sequencing in the study of acute myeloid leukemia and chronic lymphocytic leukemia. Given the advantages, disadvantages and limitations of these genetic techniques, it is necessary to use them in as complementary but never exclusive management ways(AU)


Subject(s)
Humans , Oncogenes , Genetic Markers , In Situ Hybridization, Fluorescence/methods , Hematologic Neoplasms/genetics , Cytogenetics , Epigenomics , Genetic Diseases, Inborn , Molecular Biology , Whole Genome Sequencing/methods
8.
Article in English | WPRIM | ID: wpr-827219

ABSTRACT

Gut microbiota dysbiosis is a risk factor for colorectal cancer (CRC) in inflammatory bowel disease (IBD). In this study, the effects of Panax notoginseng saponins (PNS) on colitis-associated CRC progression were evaluated on an azoxymethane (AOM)/dextran sulfate sodium (DSS) mouse model. In vivo, PNS significantly relieved AOM/DSS-induced colon tumorigenesis and development by reducing the disease activity index (DAI) scores and colon tumor load. The 16S rRNA data of fecal samples showed that the microbiome community was obviously destructed, while PNS could recover the richness and diversity of gut microbiota. Especially, PNS could increase the abundance of Akkermansia spp. which was significantly decreased in model group and negatively correlated with the progression of CRC. Moreover, ginsenoside compound K (GC-K) was evaluated on the effects of human CRC cells, which was the main bio-transformed metabolite of PNS by gut microbiota. Our data showed that PNS played important role in the prevention of the progression of CRC, due to their regulation on the microbiome balance and microbial bio-converted product with anti-CRC activity.

9.
Chinese Journal of Biotechnology ; (12): 2516-2524, 2020.
Article in Chinese | WPRIM | ID: wpr-878507

ABSTRACT

In the past ten years, the research and application of microbiome has continued to increase. The microbiome has gradually become the research focus in the fields of life science, environmental science, and medicine. Meanwhile, many countries and organizations around the world are launching their own microbiome projects and conducting a multi-faceted layout, striving to gain a strategic position in this promising field. In addition, whether it is scientific research or industrial applications, there has been a climax of research and a wave of investment and financing, accordingly, products and services related to the microbiome are constantly emerging. However, due to the rapid development of microbiome sequencing and analysis related technologies and methods, the research and application from various countries have not yet unified on the standards of technology, programs, and data. Domestic industry participants also have insufficient understanding of the microbiome. New methods, technologies, and theories have not yet been fully accepted and used. In addition, some of the existing standards and guidelines are too general with poor practicality. This not only causes obstacles in the integration of scientific research data and waste of resources, but also gives related companies unfair competition opportunity. More importantly, China still lacks national standards related to the microbiome, and the national microbiome project is still in the process of preparation. In this context, the experts and practitioners of the microbiome worked together and developed the consensus of experts. It can not only guide domestic scientific research and industrial institutions to regulate the production, learning and research of the microbiome, the application can also provide reference technical basis for the relevant national functional departments, protect the scale and standardized corporate company's interests, strengthen industry self-discipline, avoid unregulated enterprises from disrupting the market, and ultimately promote the benign development of microbiome-related industries.


Subject(s)
China , Consensus , Humans , Industry , Microbiota
10.
Chinese Journal of Biotechnology ; (12): 2511-2515, 2020.
Article in Chinese | WPRIM | ID: wpr-878506

ABSTRACT

Microbes are the most important commensal organisms in humans, animals and plants, and are the major habitants in soil, sediment, water, air and other habitats. The analysis of microbiome in these habitats has become a basic research technique. As a fast developing technology in recent years, microbiome sequencing and analysis have been widely used in human health, environmental pollution control, food industry, agriculture and animal husbandry and other fields. In order to sort out and summarize the current status, development and application prospects of microbiome sequencing and analysis technologies, this special issue has prepared a collection of 16 papers in this field, that comprise sample preservation and processing, single microbe genome sequencing and analysis, and microbiome feature analysis in special habitats, microbiome related databases and algorithms, and microbiome sequencing and analysis expert consensus. It also introduced in detail the development trend of the microbiome sequencing and analysis, in order to promote the rapid development of the microbiome sequencing and analysis industry and scientific research in China, and provide necessary reference for the healthy development of related industries.


Subject(s)
Animals , Bacteria/genetics , China , High-Throughput Nucleotide Sequencing , Humans , Metagenome , Microbiota/genetics , RNA, Ribosomal, 16S
11.
Acta Pharmaceutica Sinica ; (12): 305-314, 2020.
Article in Chinese | WPRIM | ID: wpr-789018

ABSTRACT

This study aimed to investigate the effect of the petroleum ether fraction of Xiaoyaosan (XY-A) in a rat depression model with consideration of an underlying mechanism based on gut microbiota and metabolomics. All procedures involving animal treatment were approved according to the Committee on the Ethics of Animal Experiments of Shanxi University. A rat model was established using the chronic unpredictable mild stress (CUMS) procedure and XY-A and venlafaxine (positive control) were used as intervention drugs. Sequencing of the 16S rRNA gene combined with LC-MS metabolomics was used to investigate the effects of XY-A on gut microbiota and metabolites in CUMS-induced depression, and Pearson correlation analysis was carried out on gut microbiota and metabolites. The results showed that XY-A significantly improved the depression-like behavior of CUMS rats and restored the level of brain-derived neurotrophic factor (BDNF) in the hippocampus. Gut microbiota analysis revealed that XY-A can increase the diversity of microbial species in CUMS rats and significantly restored the relative abundance of intestinal Rothia [Prevotella], with effects on intestinal inflammation and the production of short-chain fatty acids. Cecal content metabolomics identified twenty biomarkers that were altered by depression, whereas administration of XY-A ameliorated the changes in seventeen metabolites, with the most strongly affected metabolic pathways being linoleic acid metabolism, taurine and hypotaurine metabolism, primary bile acid biosynthesis, and arginine and proline metabolism. Correlation analysis further showed that there was a strong relationship between the gut microbiota and the cecal content metabolites. In summary, XY-A may exert antidepressant effects by regulating the composition of the gut microbiota and the metabolites and pathways of the cecum. The results provide a reference for the potential molecular mechanism of antidepressant action of XY-A.

12.
Article | IMSEAR | ID: sea-210489

ABSTRACT

In the present study, Pseudoxanthomonas species were isolated from rhizosphere soil samples of two selected medicinalplants, such as Alternenthera sessilis Linn. and Leucas aspera (Wild) Linn., which were collected from agriculturalfields at Kundagol, Dharwad, Karnataka. Pseudoxanthomonas sp. is Gram negative, aerobic, motile, non-spore formingrod shaped bacterium and it was designated as Pseudoxanthomonas strain RSA-23; it was found to possess broadspectrum of antimicrobial activity against pathogenic microorganisms. Furthermore, the most potent strain RSA-23was characterized by physiological, biochemical, and 16S ribosomal RNA gene sequencing. The 16S ribosomal RNAgene sequencing and analysis of phylogenetic tree showed 100% sequence similarity with Pseudoxanthomonas indica(KT204489). The methanol extract of Pseudoxanthomonas strain RSA-23 was analyzed through UV-spectroscopy andFourier transform infrared spectroscopy (FTIR). The UV-Vis. spectra revealed the presence of indole and the presenceof different functional groups, such as aldehydes, amines, and alkyl halides, were indicated by FTIR spectra.

13.
Indian J Ophthalmol ; 2019 Nov; 67(11): 1886-1888
Article | IMSEAR | ID: sea-197624

ABSTRACT

Identification of Acanthamoeba cysts and trophozoites in cases of keratitis is traditionally done with microbiological techniques such as smear examination with 10% potassium hydroxide (KOH) and culture. Double walled cyst with hexagonal inner wall is characteristic of Acanthamoeba. We report a unique case of a 9 year old boy who presented with dense anterior corneal stromal infltration, which on smear examination showed atypical double walled spherical cysts, leading to a diagnostic dilemma. An 18S rRNA gene-based PCR done on the growth on culture, subsequently identifed a rarely reported species of Acanthamoeba. The patient was advised combination therapy with polyhexamethylene biguanide (PHMB 0.02%) and chlorhexidine (0.02%) eye drops. Three weeks post treatment, the keratitis resolved with scarring and vascularisation and visual acuity improved to 20/60. At 8 weeks follow up Best corrected visual acuity further improved to 20/30 with contact lens.

14.
Rev. argent. microbiol ; 51(2): 148-152, jun. 2019. ilus
Article in Spanish | LILACS | ID: biblio-1013365

ABSTRACT

Se presentan 2 casos de bacteriemia por Helicobacter cinaedi. El primero se diagnosticó en un varón de 76 años y resultó secundario a la colocación de un acceso vascular; el segundo correspondió a un lactante febril de 37 días de vida, asociado a un cuadro de gastroen-terocolitis aguda. H. cinaedi es un microorganismo que presenta dificultad para desarrollarse en diferentes medios de cultivo y lograr su identificación a nivel de especie. En ambos casos fue fundamental la observación microscópica en fresco de las botellas de hemocultivo, la utilización de la espectrometría de masas y la posterior secuenciación del gen hsp60 para llegar a esa instancia. En los últimos anos se han informado infecciones por H. cinaedi con frecuencia creciente en otras partes del mundo. En este trabajo presentamos los primeros casos de bacteriemia por H. cinaedi documentados en Argentina.


Two cases of bacteremia caused by Helicobacter cinaedi are presented. The first case was diagnosed in a 76-year-old male patient, and was secondary to a vascular access device placement; the second case corresponded to a febrile infant of 37 days of life, and was associated with acute gastroenteritis. H. cinaedi is a microorganism difficult to grow in different culture media and also to identify to species level. In both cases, the microscopic observation of blood culture bottles, the use of mass spectrometry and the subsequent sequencing of the hsp60 gene were essential. In the recent literature, H. cinaedi infections are being reported more frequently. In this report we present the first documented cases of bacteremia caused by H. cinaedi in Argentina.


Subject(s)
Humans , Male , Infant , Aged , Helicobacter Infections/diagnosis , Bacteremia/diagnosis , Argentina/epidemiology , Mass Spectrometry/methods , Blood Culture/methods
15.
Article | IMSEAR | ID: sea-215705

ABSTRACT

Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity pulmonary disease occurring in individuals with asthma or cystic fibrosis. In these patients, it is characterized by transient pulmonary infiltrates, reversible airway obstruction, eosinophilia

16.
Article in Korean | WPRIM | ID: wpr-762282

ABSTRACT

Facklamia hominis is a facultative anaerobic Gram-positive coccus generally displaying weak alpha-hemolysis and negativity for catalase and oxidase. Facklamia species are part of the normal flora of the female genitourinary tract and have been reported in invasive diseases such as meningitis and infective endocarditis, albeit rarely. A 67 year-old-man presented to hospital with a tender, erythematous epidermal cyst on the right side of his upper back. Simple excision of the cyst was performed and the pus was taken with a sterile swab for culture, yielding no growth. One week later, discharge was observed in the patient's wound site and a sterile swab for culture was taken. The colonies grown were identified as F. hominis by the Vitek 2 system (bioMérieux, France), and the result was then reported to clinicians, and later confirmed by 16S rRNA gene sequencing and matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry. To the best of our knowledge, this is the first reported case of F. hominis isolation from a clinical specimen in Korea.


Subject(s)
Catalase , Endocarditis , Epidermal Cyst , Female , Genes, rRNA , Humans , Korea , Mass Spectrometry , Meningitis , Oxidoreductases , Suppuration , Wounds and Injuries
17.
Article in Chinese | WPRIM | ID: wpr-805094

ABSTRACT

To study the epidemiology and etiology characteristics of first imported Chikungunya fever case in Henan province, China, 2017. The patient was confirmed by Chikungunya virus (CHIKV) infected as CHIKV ribonucleotide was continuously detected in his serum specimens. BHK-21 cell line was used for virus isolation, the strain was named CHIKV/Henan001/2017. CHIKV/Henan001/2017 belonged to genotype ECSA. The highest ribonucleotide homology sequence of highly conserved region E1 with CHIKV/Henan001/2017 was hk02 strain (99.8%), who was an imported strain to Hong Kong, China, 2016. Epidemiological information and laboratory testing confirmed it was an imported Chikungunya fever case in Henan province, 2017. No secondary case has been reported.

18.
Article in Chinese | WPRIM | ID: wpr-803083

ABSTRACT

In recent years, genetic analysis technology has been widely used in diagnosis of complex and difficult disease, neonatal and high-risk population disease screening, pre-implantation diagnosis, risk assessment of genetic disease recurrence and gene therapy.Clinicians need to better understand the purpose and timing of using genetic analysis technology, only understand the advantages and limitations of these technologies, the genetic analysis technology can be truly applied to clinical practice, it is helpful to improve the ability and level of diagnosis and treatment of here-ditary diseases.

19.
Article in Chinese | WPRIM | ID: wpr-802103

ABSTRACT

Objective: To explore the difference of intestinal flora between the patients with acute cerebral hemorrhage due to hyperactivity of liver-Yang and the healthy population. Method: The fecal samples of 9 patients with acute cerebral hemorrhage due to hyperactivity of liver-Yang from the first affiliated hospital of Guangzhou university of traditional Chinese medicine in 2018 were selected as observation group,and 6 stool samples from healthy subjects were selected as the control group.The total bacterial DNA was extracted from the two groups of samples,amplified according to the 16S rRNA V4 region,and paired-end sequencing was performed on the Illumina MiSeq platform.The sequencing results were analyzed by bioinformatics analysis software.The flora composition and structure of the samples from two groups were compared. Result:Venn analysis of operational taxonomic units(OTU) showed significant difference in OTU numbers between the observation group and control group.Partial least squares-discriminant analysis(PLS-DA) showed that there was a significant difference in the composition of intestinal flora between patients with acute cerebral hemorrhage and healthy subjects.On the analysis of species and abundance,at the classification level of phylum,compared with the control group,the ratio of relative abundance values of Firmicutes and Bacteroidetes(F/B) in the observation group was significantly increased,and the relative abundance of Verrucomicrobia was significantly decreased(PPrevotella,Bacteroides,Akkermansia,Blautia and Acidaminococcus(PPBacteroides and Prevotella(B/P) in the observation group was significantly higher than that of the control group;at the classification level of species,there were significant differences between the two groups in P. copri,A. muciniphila,B. ovatus,B. fragilis and Ruminococcus callidus(PPConclusion:Acute cerebral hemorrhage due to hyperactivity of liver-Yang is associated with structural disorder of intestinal flora,which is closely related to the decrease in relative abundance of P. copri and A. muciniphila.

20.
Chinese Journal of Neurology ; (12): 941-944, 2019.
Article in Chinese | WPRIM | ID: wpr-801240

ABSTRACT

Leigh syndrome (French-Canadian type, LSFC) is a rare autosomal recessive hereditary severe neurological disorder that begins in infancy. Herein we report a case with LSFC in China. The patient was 8 months old, male, whose clinical manifestations included delayed development, low muscle tone, unstable vertical head, inability to sit alone, cognitive impairment, slightly smaller forehead, oblique eyes, epilepsy, etc. Gene sequencing results showed that the LRPPRC gene in the infant had complex heterozygous mutations of c.2989G>A (newly reported) and c.4078G>A. Combined with the clinical manifestations, gene mutations and literatures, the infant was diagnosed as LSFC, and symptomatic rehabilitation was performed. The results of genetic testing can contribute to the early diagnosis and genetic counseling of LSFC patients, and help reduce the burden on the patients and their families.

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