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1.
Medicine (Baltimore) ; 98(38): e16991, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31567936

RESUMO

BACKGROUND: Interleukin 12 (IL-12) and interleukin 12 receptor (IL12R), key inflammatory cytokines in the immune system, participate in bridging the innate immunity and adaptive immunity. No previous work has reported the role of IL-12 and IL12R in high-risk human papillomavirus (hrHPV) susceptibility. The purpose of this study was to investigate the association of IL-12, IL12R polymorphisms, and serum IL-12 levels with hrHPV susceptibility in rural women from Luohe, Henan, China. METHODS: Two hundred sixty cases with hrHPV infection and 260 healthy controls were selected. Enzyme-linked immunosorbent assays were used to detect the serum IL-12 levels, and the polymorphisms of IL12B rs3212227, IL12RB1 rs393548, and IL12RB1 rs436857 were determined using DNA sequencing. RESULTS: The serum IL-12 levels were significantly lower in cases with hrHPV infection compared with those in healthy controls (P < .01).There was no significant difference in IL12 rs3212227, IL12RB1rs436857, and IL12RB1rs393548 genotype and allele frequencies between cases and controls (P > .05). Furthermore, with respect to the IL12 rs3212227 polymorphism with serum IL-12 levels, although serum IL-12 levels were lower in cases than in controls, we did not find any differences between serum IL-12 levels and genotypes in cases(P > .05). CONCLUSIONS: Our data demonstrates that low serum IL-12 levels may be associated with hrHPV susceptibility but are not associated with IL-12 gene polymorphisms; furthermore, IL-12 and IL12R gene polymorphisms may not contribute susceptibility to hrHPV in rural women from Luohe, Henan, China.


Assuntos
Predisposição Genética para Doença , Subunidade p40 da Interleucina-12/genética , Infecções por Papillomavirus/genética , Receptores de Interleucina-12/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Subunidade p40 da Interleucina-12/sangue , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Receptores de Interleucina-12/sangue , População Rural
2.
Anticancer Res ; 39(10): 5375-5380, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570432

RESUMO

BACKGROUND/AIM: Matrix metalloproteinases-11 (MMP-11) overexpression has been reported in various types of cancer including lung cancer. We aimed to examine the contribution of MMP-11 genotypes to lung cancer risk. MATERIALS AND METHODS: In this case-control study, the MMP-11 rs738791, rs2267029, rs738792 and rs28382575 genotypes were determined among 358 lung cancer patients and 716 age- and gender-matched healthy control Taiwanese. RESULTS: The percentages of rs738791 CT and TT were 50.6% and 9.2% in the case group, slightly higher than 48.5% and 8.1% in the control group (p for trend=0.5638). The allelic analysis showed that the rs738791 T allele did not confer lung cancer risk compared with the C allele. Similarly, there was no association between rs2267029, rs738792 or rs28382575 and lung cancer risk. There was no joint effect of MMP-11 genotypes among ever smokers or non-smokers. CONCLUSION: The genotypes of MMP-11 play a minor role in determining lung cancer risk in Taiwan.


Assuntos
Predisposição Genética para Doença/genética , Neoplasias Pulmonares/genética , Metaloproteinase 11 da Matriz/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Taiwan
4.
Fa Yi Xue Za Zhi ; 35(4): 406-410, 2019 Aug.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-31532147

RESUMO

Abstract: Objective To apply Demirjian's and Cameriere's method for dental age estimation of adolescents from Hunan Han nationality, and compare the accuracy of the two methods. Methods A total of 480 orthopantomograms of?8-16 year?old adolescents from Hunan Han nationality?with no special diseases and good nutritional status were collected?by Xiangya Stomatological Hospital of Central South University from January, 2016 to July, 2017, among them 236 males and 244 females. The dental age of each adolescent was determined by Demirjian's method and Cameriere's method, respectively, and the paired t-test of the estimated dental age and the chronological age determined by the two methods was conducted by SPSS 20.0 software to compare the difference between estimated dental age and chronological age. Results Mean chronological age of males and females was 11.91 and 11.88 years, respectively. The estimated dental age determined by Demirjian's method showed an underestimate of chronological age by an average of 0.11 years (males) and 0.15 years (females), while the estimated dental age determined by Cameriere's method showed an underestimate of chronological age by an average of 0.83 years (males) and 0.72 years (females). Conclusion Demirjian's method is more accurate than Cameriere's method in dental age estimation of adolescents from Hunan Han nationality, therefore more suitable for dental age estimation of adolescents in this region.


Assuntos
Determinação da Idade pelos Dentes , Odontologia Legal , Adolescente , Grupo com Ancestrais do Continente Asiático , Criança , China , Grupos Étnicos , Feminino , Humanos , Masculino , Radiografia Panorâmica , Reprodutibilidade dos Testes
5.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(8): 917-923, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31484254

RESUMO

Objective: To describe the characteristics of habitual snoring among adults from 10 regions engaged in the China Kadoorie Biobank (CKB) study. Methods: The baseline survey of CKB was conducted from 2004 to 2008. Data was collected regarding the information on socio- demographic characteristics, lifestyle, sleeping habits, and results from the physical examination of the participants. Logistic regression models were used to compare the regional differences and to estimate the associations of other baseline characteristics on snoring habit. Results: A total of 512 713 participants were included in this study. The overall prevalence of habitual snoring was 21.2%, higher among men, in south regions and urban areas, but no difference observed among people with different socioeconomic status after adjusting for age, regions, BMI, waist circumference or lifestyle factors. Results showed that the prevalence of habitual snoring under the multivariable adjusted model increased among current and ever smokers, also among current and ever alcohol consumers. The risk of habitual snoring was increased by 19% per 1 kg/m(2) and 6% per 1 cm increment in BMI or waist circumference, respectively. Among participants with similar BMI, central obese individuals were more likely to be habitual snorers. For individuals with similar waist circumference, the prevalence of habitual snoring was higher among those with higher BMI. Conclusion: The prevalence of habitual snoring varied across regions. Substantial differences in habitual snoring were also seen among people with different lifestyles and body sizes.


Assuntos
Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Ronco/epidemiologia , Adulto , Fatores Etários , Idoso , Índice de Massa Corporal , China/epidemiologia , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Circunferência da Cintura
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 862-865, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515776

RESUMO

OBJECTIVE: To screen for pathogenic variants in the coding regions of STK11 gene among Chinese patients with Peutz-Jeghers syndrome (PJS). METHODS: Peripheral blood samples were collected from 64 patients. The coding regions of the STK11 gene were detected by PCR and Sanger sequencing. RESULTS: Fourty-eight patients were found to harbor STK11 gene variants, which included 39 types of variants consisting of missense, nonsense, insertional, deletional and splice site variants. Among 64 PJS patients, the detection rate of point variants was 75.00% (48/64), of which missense variants accounted for 29.17% (14/48), nonsense variants accounted for 29.17%(14/48), insertion variants accounted for 2.08% (1/48), deletional variants accounted for 10.42% (5/48), and splice site variants accounted for 29.17% (14/48). The detection rates of sporadic cases and those with a family history were 71.8% (28/39) and 80.0% (20/25), respectively. Two variants (c.250A>T, c.580G>A) occurred in 3 PJS probands. Thirteen variants were unreported previously and were considered to be pathogenic. CONCLUSION: The detection rate of variants among Chinese PJS patients is similar to that of other countries. A number of novel common variant sites were discovered, which enriched the spectrum of PJS-related variants.


Assuntos
Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinases/genética , Grupo com Ancestrais do Continente Asiático , China , Análise Mutacional de DNA , Humanos
7.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(7): 818-822, 2019 Jul 28.
Artigo em Chinês | MEDLINE | ID: mdl-31413222

RESUMO

OBJECTIVE: To understand the development of medical social work in China, and provide reference and basis for promoting medical social work in the next stage.
 Methods: A random sampling method was used to survey and analyze the data from questionnaires distributed to hospitals at or above the second level in China.
 Results: Medical social work had been carried out in all parts of the country, but the development was not balanced with the establishment of specialized agencies accounting for about 7.9% of the total survey. Only 17.5% of the hospitals carried out medical social work as a routine work. The medical social work service mainly included volunteer operation and management, patient psychological counseling, and so on.
 Conclusion: The development of medical social work in hospitals in China is still in its infancy, and the regional development is not balanced. Lack of professionals, unclear responsibilities of medical social workers and low social identity of medical social work are the main factors restricting development.


Assuntos
Hospitais , Serviço Social , Grupo com Ancestrais do Continente Asiático , China , Humanos , Inquéritos e Questionários
8.
Stud Health Technol Inform ; 264: 1534-1535, 2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438218

RESUMO

As translated education resource plays an important role in healthcare providers' training and medical knowledge dissemination, we proposed a method to manage cross-lingual education resources with the goal of facilitating the medical education and physician training. We created an English-Chinese cancer knowledge base including bilingual description on cancer diagnosis, prevention, screening, treatments, etc. We developed a workflow to create the bilingual corpus, and applied it to six cancer monographs in PDQ (Physician Data Query).


Assuntos
Educação em Enfermagem , Neoplasias , Grupo com Ancestrais do Continente Asiático , Educação em Saúde , Recursos em Saúde , Humanos
9.
Gene ; 718: 144072, 2019 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-31446095

RESUMO

Disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal and sex is atypical. It is difficult to diagnose and manage patients with DSD in clinical practice, and the molecular etiology of DSD is still not completely understood. Here, we identified two novel pathogenic mutations from three unrelated Chinese patients with 46,XY complete gonadal dysgenesis (CGD) that is a clinical subgroup of DSD by whole exome sequencing. A novel mutation in the SRY gene (c.161delG) was identified in the first patient, and the second patient carried a novel missense mutation in the MAP3K1 gene (c.2117T>G). Bioinformatics analysis found that the deletion of SRY (c.161delG) led to a premature stop codon at amino acid 59 in the SRY protein, which resulted in lacking the DNA binding domain of SRY protein. Functional studies found that the missense mutation in the MAP3K1 gene (c.2117T>G) could interfere with the gene function through increasing the phosphorylation of the downstream targets of MAP3K1, ERK1/2 and p38, which resulted in reducing testis-determining factor SOX9 expression and increasing ovary-promoting factor ß-catenin activity. According to the American college of medical genetics and genomics (ACMG) standards and guidelines, these mutations were categorized as "pathogenic" mutations. Thus, our findings provide two novel pathogenic mutations associated with 46,XY CGD that can improve the etiological diagnosis for 46,XY CGD. ABBREVIATIONS.


Assuntos
Sequência de Bases , Disgenesia Gonadal 46 XY , MAP Quinase Quinase Quinase 1 , Mutação de Sentido Incorreto , Deleção de Sequência , Adulto , Grupo com Ancestrais do Continente Asiático , Feminino , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/metabolismo , Disgenesia Gonadal 46 XY/patologia , Humanos , MAP Quinase Quinase Quinase 1/genética , MAP Quinase Quinase Quinase 1/metabolismo , Sistema de Sinalização das MAP Quinases/genética , Masculino , Fatores de Transcrição SOX9/genética , Fatores de Transcrição SOX9/metabolismo , Proteína da Região Y Determinante do Sexo/genética , Proteína da Região Y Determinante do Sexo/metabolismo
11.
Gene ; 715: 144027, 2019 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-31374327

RESUMO

OBJECTIVES: To explore the clinical and molecular characteristics of a Chinese Zhuang minority patient with leukocyte adhesion deficiency type-1 (LAD-1) and glucose-6-phosphate dehydrogenase deficiency (G6PDD). METHODS: Routine clinical and physical examinations were performed, and patient data was collected and analyzed. Protein expression levels of Itgb2 and glucose-6-phosphate dehydrogenase (G6pd) proteins were assessed by flow cytometry and the glucose-6-phosphate (G6P) substrate method, respectively. Whole exome sequencing was performed to investigate genetic variations of the patient and his parents. RESULTS: The patient had fester disease and delayed separation of the umbilical cord at birth. Staphylococcus was detected in the fluid secretion of the auditory meatus of the patient. He exhibited a recurrent cheek scab, swollen hand, and swollen gum. Hematological examination indicated dramatic elevation of leukocytes including lymphocytes, monocytes, neutrophils and eosinophils. A novel homozygous mutation was detected in the ITGB2 gene of the patient, which was determined to be a two nucleotide deletion at the site of c.1537-1538 (c.1537-1538delGT), causing a frameshift of 24 amino acids from p.513 and inducing a stop codon (p.V513Lfs*24). A base substitution mutation was identified at c.1466 (c.1466G>T) of G6PD on chromosome X of the patient, which resulted in an amino acid change from arginine to leucine at p.489 (p.R489L). The patient also showed deficient lymphocyte expression of CD18 (2.99%) and significant downregulation of the G6pd protein. CONCLUSIONS: The patient was diagnosed with G6PDD and moderate LAD-1. The combination of LAD-1 and G6PDD in this case may have been due to the high incidence of genetic disease in this minority ethnic population. Analyzing existing LAD-1 and G6PDD cases from different populations can facilitate disease diagnosis and treatment. Particularly, reporting pathogenic mutations of LAD-1 and G6PDD will be crucial for genetic testing and prenatal diagnosis in an effort to decrease the incidence of these diseases.


Assuntos
Antígenos CD18/genética , Deficiência de Glucosefosfato Desidrogenase/genética , Homozigoto , Síndrome da Aderência Leucocítica Deficitária/genética , Mutação de Sentido Incorreto , Substituição de Aminoácidos , Grupo com Ancestrais do Continente Asiático , Antígenos CD18/metabolismo , Deficiência de Glucosefosfato Desidrogenase/patologia , Humanos , Lactente , Síndrome da Aderência Leucocítica Deficitária/metabolismo , Síndrome da Aderência Leucocítica Deficitária/patologia , Leucócitos/metabolismo , Leucócitos/patologia , Masculino
12.
Medicine (Baltimore) ; 98(33): e16744, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415369

RESUMO

MicroRNAs (miRNAs) play an important role in the pathogenesis of sepsis, but the association of miRNAs single nucleotide polymorphisms (SNPs) and sepsis risk is not clear. We analyzed plasma levels of miR-187, miR-21, and miR-145 in 180 patients with sepsis and 180 healthy controls were analyzed, and the SNPs: rs12605436, rs13137, and rs353291 were detected by sequencing. Plasma levels of tumor necrosis factor (TNF)-α and interleukin (IL)-6 were measured in all subjects by enzyme-linked immunosorbent assay (ELISA). The results showed that the levels of TNF-α and IL-6 in the plasma of patients with sepsis were significantly higher than those in patients of the control group (P < .0001). Plasma levels of miR-187 in patients with sepsis were significantly lower than those in the control group, while those of miR-21 and miR-145 were significantly higher than those in the control group (P < .0001). Plasma levels of miR-187 in sepsis patients were inversely correlated with those of TNF-α and IL-6 (r = -0.2841, -0.2163), and plasma levels of miR-21 and miR-145 were positively correlated with those of TNF-α and IL-6 (r = 0.615, 0.3057, 0.4465, 0.2734). The T allele of the miR-187 SNP rs12605436 was found to be a risk factor for sepsis (OR = 1.403, 95% CI = 1.205-1.612, P < .001). The T allele of the miR-21 SNP rs13137 and the T allele of the miR-145 SNP rs353291 (OR = 0.685, 95% CI = 0.566-0.820, P < .001) were found to be a protective factor for sepsis (OR = 0.755, 95% CI = 0.632-0.896, P < .001). From our results, we can see that the plasma levels of miRNAs containing the SNPs rs12605436, rs13137, and rs353291 are associated with the occurrence of sepsis.


Assuntos
Predisposição Genética para Doença , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Sepse/genética , APACHE , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Interleucina-6/sangue , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de Risco , Sepse/sangue , Fator de Necrose Tumoral alfa/sangue
13.
Medicine (Baltimore) ; 98(33): e16815, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415397

RESUMO

BACKGROUND: Acupuncture is effective for reducing body weight; however, evidence in Asian populations is lacking. We performed a systematic review and meta-analysis to evaluate the efficacy of acupuncture for body weight reduction in Asians. METHODS: The Medline, Embase, Cochrane library, and Chinese databases were searched for relevant studies through October 20, 2018. Publications describing randomized controlled trials (RCTs) comparing acupuncture with other treatments for the reduction of body weight were compiled. Reviewers assessed bias and collected data on trial characteristics and outcomes. The study was conducted based on the reporting items of the guidelines for systematic evaluation and meta-analysis (PRISMA). Review Manager 5.2 software was used to calculate weight mean difference (WMD) and 95% confidence intervals (CIs). RESULTS: Twelve RCTs involving 1151 subjects were included. Compared with the control groups, the acupuncture groups exhibited significantly greater reductions of body mass index (BMI) (WMD -1.23 kg/m; 95% CI -1.94, -0.51) and waist circumference (WMD -2.56 cm; 95% CI -4.43, -0.69). In the subgroup analyses, significant differences in the reduction of BMI and the reduction of waist circumference were observed between the acupuncture and sham acupuncture groups, the acupuncture plus diet and exercise, and the diet and exercise groups, and the acupuncture and no intervention groups, but not between the acupuncture plus exercise and exercise groups. CONCLUSIONS: Our study demonstrates that acupuncture is effective in the intervention of overweight/obesity in Asians; however, compared with exercise alone, acupuncture combined with exercise had no effect on the BMI or waist circumstance in the short term. Long-term studies are needed to evaluate the efficacy of acupuncture in weight reduction in Asians.


Assuntos
Terapia por Acupuntura/estatística & dados numéricos , Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Terapia por Exercício/estatística & dados numéricos , Obesidade/terapia , Sobrepeso/terapia , Terapia por Acupuntura/métodos , Adulto , Índice de Massa Corporal , Terapia por Exercício/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/etnologia , Sobrepeso/etnologia , Resultado do Tratamento , Perda de Peso
14.
Medicine (Baltimore) ; 98(34): e16706, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31441843

RESUMO

OBJECTIVE: Postoperative chronic pain is characterized by high incidence, long duration, and complex pathogenesis. The purpose of this study was to investigate the correlation between the single nucleotide polymorphisms of the CCL2 gene rs4586 (g.5974T>C), CALCA rs3781719 (-692T>C), CX3CL1 rs614230 (2342C>T), and the risk of postoperative chronic pain in Chinese Han women. METHODS: We analyzed the CCL2 gene rs4586, CALCA rs3781719, CX3CL1 rs614230 single nucleotide polymorphism (SNPs) of 350 Chinese Han women with chronic postsurgical pain (CPSP) 6 months after cesarean section and 350 healthy women without chronic pain (HC). The levels of CCL2, CALCA, and CX3CL1 in serum were detected by enzyme-linked immunosorbent assay (ELISA). RESULTS: The CCL2 rs4586 T allele and the CX3CL1 gene rs614230C allele were protective factors for CPSP risk (adjusted OR = 0.766, 95% CI: 0.675-0.865 and OR = 0.336, 95% CI: 0.644-0.835). The CALCA gene rs3781719C allele was a risk factor for CPSP (adjusted OR = 1.273, 95% CI: 1.125-1.424). CCL2 rs4586, CX3CL1 gene rs614230, and CALCA gene rs3781719 locus gene polymorphisms were associated with serum CCL2, CX3CL1, and CALCA protein levels. CONCLUSION: Our results support that CCL2 gene rs4586, CALCA rs3781719, CX3CL1 rs614230 gene polymorphism are associated with the occurrence of chronic pain after cesarean section in Chinese Han women.


Assuntos
Cesárea/efeitos adversos , Dor Crônica/etiologia , Dor Crônica/genética , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/genética , Adulto , Grupo com Ancestrais do Continente Asiático , Peptídeo Relacionado com Gene de Calcitonina/genética , Estudos de Casos e Controles , Quimiocina CCL2/genética , Quimiocina CX3CL1/genética , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Polimorfismo de Nucleotídeo Único , Adulto Jovem
15.
Stud Health Technol Inform ; 264: 1524-1525, 2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438213

RESUMO

Named entity recognition in electronic medical records is of great significance to the construction of medical knowledge maps. This paper proposes a model of bidirectional Long Short-Term Memory with a conditional random field layer(BiLSTM-CRF). In terms of simultaneously identifying 5 types of clinical entities from CCKS2018 Chinese EHRs corpus, the BiLSTM-CRF model finally achieved better performance than the baseline CRF model (F-score of 84.23% vs 82.49%).


Assuntos
Registros Eletrônicos de Saúde , Memória de Curto Prazo , Grupo com Ancestrais do Continente Asiático , Humanos
16.
Genome Biol ; 20(1): 177, 2019 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-31462281

RESUMO

Funding research is a challenge faced by most scientists around the world. Genome Biology has invited four scientists based in three different countries to share their own experience and opinions regarding funding, the difficulties young scientists must overcome, and how the process of securing funding can be improved. Here, Hui Yang discusses the funding opportunities open to scientists conducting research in China.


Assuntos
Tentilhões , Animais , Grupo com Ancestrais do Continente Asiático , China , Genoma , Humanos , Pesquisa
17.
Adv Exp Med Biol ; 1193: 53-67, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31368097

RESUMO

Aldehyde dehydrogenase 2 (ALDH2) is a non-cytochrome P450 mitochondrial aldehyde oxidizing enzyme. It is best known for its role in the metabolism of acetaldehyde, a common metabolite from alcohol drinking. More evidences have been accumulated in recent years to indicate a greater role of ALDH2 in the metabolism of other endogenous and exogenous aldehydes, especially lipid peroxidation-derived reactive aldehyde under oxidative stress. Many cardiovascular diseases are associated with oxidative stress and mitochondria dysfunction. Considering that an estimated 560 million East Asians carry a common ALDH2 deficient variant which causes the well-known alcohol flushing syndrome due to acetaldehyde accumulation, the importance of understanding the role of ALDH2 in these diseases should be highlighted. There are several unfavorable cardiovascular conditions that are associated with ALDH2 deficiency. This chapter reviews the function of ALDH2 in various pathological conditions of the heart in relation to aldehyde toxicity. It also highlights the importance and clinical implications of interaction between ALDH2 deficiency and alcohol drinking on cardiovascular disease among the East Asians.


Assuntos
Acetaldeído/efeitos adversos , Consumo de Bebidas Alcoólicas , Aldeído-Desidrogenase Mitocondrial/genética , Doenças Cardiovasculares/genética , Grupo com Ancestrais do Continente Asiático , Humanos
18.
Adv Exp Med Biol ; 1193: 69-87, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31368098

RESUMO

Despite the role of aldehyde dehydrogenase 2 (ALDH2) in the detoxification of endogenous aldehydes, the defective polymorphism (rs671), which is highly prevalent among East Asians, does not show a serious phenotype, such as congenital abnormality. However, unfavorable and favorable impacts of the variant allele, ALDH2*2, on various disease risks have been reported. The underlying mechanisms are often complicated due to the compensatory aldehyde detoxification systems. As the phenotypes emerge due to overlapping environmental factors (e.g., alcohol intake and tobacco smoke) or individual vulnerabilities (e.g., aging and apolipoprotein E ε4 allele), polymorphism is therefore considered to be important in the field of preventative medicine. For example, it is important to recognize that ALDH2*2 carriers are at a high risk of alcohol drinking-related cancers; however, their drinking habit has less adverse effects on physiological indices, such as blood pressure, body mass index, levels of lipids, and hepatic deviation enzymes in the blood, than in non-ALDH2*2 carriers. Therefore, opportunities to reconsider their excessive drinking habit before adverse events occur can be missed. To perform effective disease prevention, the effects of ALDH2*2 on various diseases and the biological mechanisms should be clarified.


Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Aldeído-Desidrogenase Mitocondrial/genética , Polimorfismo Genético , Alelos , Grupo com Ancestrais do Continente Asiático , Humanos
19.
Adv Exp Med Biol ; 1193: 121-134, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31368101

RESUMO

Coronary spasm plays an important role in the pathogenesis of ischemic heart disease, including angina pectoris, acute myocardial infarction (AMI), silent myocardial ischemia, and sudden death. The prevalence of coronary spasm is higher among East Asians probably due to genetic as well as environmental factors. ALDH2 eliminates toxic aldehydes including 4-hydroxy-2-nonenal (4-HNE) derived from lipid peroxidation and acrolein in tobacco smoking as well as ethanol-derived acetaldehyde and thereby protects tissues and cells from oxidative damage. Deficient variant ALDH2*2 genotype is prevalent among East Asians and is a significant risk factor for both coronary spasm and AMI through accumulation of toxic aldehydes, thereby contributing to oxidative stress, endothelial damage, vasoconstriction, and thrombosis. Toxic aldehydes are thus identified as risk factors to be targeted for the treatment of coronary spasm and AMI.


Assuntos
Aldeído-Desidrogenase Mitocondrial/genética , Vasoespasmo Coronário/genética , Infarto do Miocárdio/genética , Grupo com Ancestrais do Continente Asiático , Genótipo , Humanos
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 757-760, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400121

RESUMO

OBJECTIVE: To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME). METHODS: Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes. RESULTS: DNA sequencing has revealed a heterozygous missense variation c.812A>G (p.Tyr271Cys) in the exon 1 of EXT1 in pedigree 1, and a heterozygous frameshift variation c.1431dup (p.Ser478Leufs*43) in the exon 6 of EXT1 in the proband from pedigree 2. Both variations have co-segregated with the disease phenotype, which was also consistent with previous report. CONCLUSION: Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.


Assuntos
Exostose Múltipla Hereditária/genética , N-Acetilglucosaminiltransferases/genética , Grupo com Ancestrais do Continente Asiático , Sequência de Bases , Análise Mutacional de DNA , Exostose Múltipla Hereditária/patologia , Mutação da Fase de Leitura , Humanos , Mutação de Sentido Incorreto , Linhagem
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