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1.
J Pediatr Genet ; 11(3): 173-178, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35990034

RESUMO

Bronchopulmonary dysplasia (BPD) is a common complication of prematurity with a multifactorial etiology, influenced by both genetic susceptibility and environmental factors on the immature lung. Fibroblast growth factor receptor-3 and -4 (FGFR-3 and FGFR-4) are abundantly expressed in both the epithelium and mesenchyme in the developing mammalian lung. FGFR-4 may play a role in developing BPD as it is associated with airway inflammation and remodeling; studies showed a link between BPD and a polymorphism in the FGFR-4 gene. The aim of this study was to study the significance of FGFR-4 in developing BPD and to investigate the correlation between its serum level and its genetic polymorphism in relation to development of BPD in preterms. This case-control study was performed on 80 preterm neonates (<32 weeks) divided into two groups: group I included 50 preterms with respiratory distress syndrome (RDS) who developed BPD and group II included 30 preterms with RDS only. The mean serum level of FGFR-4 was significantly lower in group I than in group II ( p -value < 0.05). There was no significant correlation between the serum levels of FGFR-4 and the degree of severity of BPD. Allele variation in the FGFR-4 gene was similar in both groups. The serum level of FGFR-4 was significantly lower in preterms with BPD, although the gene polymorphism was not significantly different in the studied groups.

2.
Sci Rep ; 10(1): 15076, 2020 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-32934293

RESUMO

It is well known that the quality and quantity of bioactive metabolites in plants and microorganisms are affected by environmental factors. We applied heat stress as a promising approach to stimulate the production of antioxidants in four heat-tolerant bacterial strains (HT1 to HT4) isolated from Aushazia Lake, Qassim Region, Saudi Arabia. The phylogenetic analysis of the 16S rRNA sequences indicated that HT1, HT3 and HT4 belong to genus Bacillus. While HT2 is closely related to Pseudooceanicola marinus with 96.78% similarity. Heat stress differentially induced oxidative damage i.e., high lipid peroxidation, lipoxygenase and xanthine oxidase levels in HT strains. Subsequently, heat stress induced the levels of flavonoids and polyphenols in all strains and glutathione (GSH) in HT2. Heat stress also improved the antioxidant enzyme activities, namely, CAT, SOD and POX in all strains and thioredoxin activity in HT3 and HT4. While GSH cycle (GSH level and GPX, GR, Grx and GST activities) was only detectable and enhanced by heat stress in HT2. The hierarchical cluster analysis of the antioxidants also supported the strain-specific responses. In conclusion, heat stress is a promising approach to enhance antioxidant production in bacteria with potential applications in food quality improvement and health promotion.


Assuntos
Antioxidantes/metabolismo , Bacillus/genética , Resposta ao Choque Térmico/genética , Rhodobacteraceae/genética , Catalase/genética , Glutationa/genética , Glutationa Peroxidase/genética , Transtornos de Estresse por Calor/genética , Peroxidação de Lipídeos/genética , Oxirredução , Estresse Oxidativo/genética , Filogenia , RNA Ribossômico 16S/genética , Arábia Saudita , Superóxido Dismutase/genética
3.
South Asian J Cancer ; 3(1): 1-4, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24665436

RESUMO

BACKGROUND: Hepatocellular carcinoma (HCC) is currently the fifth most common solid tumor worldwide and the third leading cause of cancer related deaths. Several studies have shown that the tumor suppressor gene p16INK4A is frequently downregulated by aberrant methylation of the 5'-cytosine-phosphoguanine island within the promoter region. AIM: To find out the frequency of methylated p16INK4A in the peripheral blood of HCC and cirrhotic patients and to evaluate its role in hepatocarcinogenesis. PATIENTS AND METHODS: This study was performed on 58 subjects: 30 HCC patients, 20 cirrhotic patients, and eight healthy volunteers. Methylation of p16INK4A was examined using methylation specific polymerase chain reaction (PCR) (MSP). Comparison of quantitative variables between the study groups was done using Mann-Whitney U test for independent samples when not normally distributed. For comparing categorical data, Chi-square (χ(2)) test was performed. Exact test was used instead when the expected frequency was less than 5. RESULTS: Methylation of p16INK4A was found in 6.7% of HCC patients, 5% of liver cirrhosis (LC) patients, and none of the healthy volunteers; 66.67% of the p16INK4A-methylated cases (2/3) were positive for anti-hepatitis C virus (HCV) antibodies (one of them had HCC). All HCC cases with aberrant p16INK4A methylation show very high serum alpha fetoprotein (AFP) level (9,080; 30,000 µg/mL). There were no significant associations between the status of p16INK4A methylation and tumor size. CONCLUSION: Hypermethylation of p16INK4A was found to be infrequent among Egyptian patients with HCC.

4.
Gynecol Endocrinol ; 30(6): 428-30, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24592983

RESUMO

This study aimed at evaluating possible associations of the single nucleotide polymorphism (SNP) in luteinizing hormone/choriogonadotropin receptor (LHCGR) gene G935A and polycystic ovary syndrome (PCOS) phenotype. The study included 100 PCOS female patients and 60 healthy female control subjects. The patients were recruited from the Gynecology out-patient clinic, Kasr Al-Aini Hospital, Cairo University. All candidates underwent full history taking and clinical examination with calculation of body mass index. Serum and EDTA samples were collected from each patient after a written consent. A hormonal profile was done for each patient as well as DNA analysis of the G935A polymorphism of LHCGR gene. In PCOS group, 26% were homozygous (AA), 27% were heterozygous (GA) and 47% were wild genotype (GG), while in controls 30% were heterozygous and 70% were wild genotype (OR: 2.25; CI: 1.16-4.386; p value: 0.012). The homozygous 935A individuals were at higher risk to develop PCOS than controls (OR: 1.80; CI: 1.54-2.09; p value < 0.001).We found a genetic variant, which is associated with PCOS in a sample of the Egyptian population. These results may provide an opportunity to test this SNP at the LHCGR gene in fertile or infertile women with family history to assess their risk of PCOS.


Assuntos
Síndrome do Ovário Policístico/genética , Polimorfismo de Nucleotídeo Único , Receptores do LH/genética , Adulto , Alelos , Substituição de Aminoácidos , Índice de Massa Corporal , Estudos de Casos e Controles , Egito , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Heterozigoto , Homozigoto , Hospitais Universitários , Humanos , Obesidade/complicações , Ambulatório Hospitalar , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/metabolismo , Receptores do LH/metabolismo , Adulto Jovem
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