Journal of molecular and genetic medicine : an international journal of biomedical research最新文献_第7页

The Clinical Characteristics of Breast Cancers with A Familial Risk in Which No BRCA1/2 Mutations were found are Sometimes Suggestive for A Genetic Etiology 没有发现BRCA1/2突变的家族性乳腺癌的临床特征有时提示遗传病因

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-05-15 DOI: 10.4172/1747-0862.1000423

S. Joris, R. B. Shahi, S. DeBrakeleer, C. Fontaine, M. Bonduelle, Ingrid Pauwels, E. Teugels, J. Degreve

{"title":"The Clinical Characteristics of Breast Cancers with A Familial Risk in Which No BRCA1/2 Mutations were found are Sometimes Suggestive for A Genetic Etiology","authors":"S. Joris, R. B. Shahi, S. DeBrakeleer, C. Fontaine, M. Bonduelle, Ingrid Pauwels, E. Teugels, J. Degreve","doi":"10.4172/1747-0862.1000423","DOIUrl":"https://doi.org/10.4172/1747-0862.1000423","url":null,"abstract":"Aim: We investigated the patient and tumor characteristics of breast cancer patients with a high familial risk. The families in which the standard genetic testing revealed a BRCA1 or BRCA2 mutation were excluded to identify clinical characteristics that can be linked with an unknown genetic mutation. These characteristics were compared with those from patients in the same cohort in whom a mutation was found in BRCA1 or BRCA2 and to those from sporadic breast cancer cases (Belgian cancer registry). \u0000Methods: The files of familial cancer cases that underwent BRCA1/2 testing between 1994 and 2012 were retrospectively analyzed. \u0000Results: The BRCA1 related breast cancers occur at a median age of 42, BRCA2 at a median age of 44, familial non-BRCA1/2 at a median age of 47 and sporadic breast cancer at the age of 63. The lower median age of incidence in the non-BRCA1/2 group compared to the sporadic breast cancer group makes use conclude that there are probably moderate risk genes involved. Generational anticipation was also observed in some of the BRCA1/2 negative families. We did not find any significant differences in the pathological characteristics of breast cancers occurring in BRCA1/2 negative patients with a high familial risk compared to sporadic cases. \u0000Conclusion: A shift towards a younger age of disease incidence and “anticipation” in some families suggests the involvement of a genetic factor. The identification of other genetic causes in these familial cases is therefore warranted.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42643319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analysis of a Review Article on the Use of Music to Reduce Anxiety and Analgesic Consumption in Patients Undergoing Surgery 一篇关于使用音乐减少手术患者焦虑和镇痛药消耗的综述文章分析

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-05-10 DOI: 10.4172/1747-0862.1000425

S. Terracina

引用次数: 0

Gene Silencing: A Novel Approach and Suppression of HIV-1 Gene 基因沉默：一种抑制HIV-1基因的新方法

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-04-17 DOI: 10.4172/1747-0862.1000420

Singh Ho, Maan Hs, T. Dhole

引用次数: 0

Molecular Characterization of Spitz Tumors: An Approach to Improve Disease Diagnosis and Classification Spitz肿瘤的分子特征:提高疾病诊断和分类的一种方法

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-04-02 DOI: 10.4172/1747-0862.1000417

A. Giubellino, Y. Zhou

引用次数: 0

A Newly Developed Dimer of Vitamind Combined with N-Acetylgalactosamin-Albumin Protein Carrier is a Safe and Conciliable Method to Rapidly Provide Cholecalciferol to the Human Body 一种新开发的维生素二聚体与N-乙酰氨基半乳糖白蛋白蛋白载体相结合是一种安全、简便的快速向人体提供胆钙化醇的方法

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-02-28 DOI: 10.4172/1747-0862.1000396

J. Greilberger, M. Greilberger, R. Herwig

引用次数: 0

Highly Variable Expression of ESR1 Splice Variants in Human Liver: Implication in the Liver Gene Expression Regulation and Inter-Person Variability in Drug Metabolism and Liver Related Diseases. ESR1剪接变异体在人类肝脏中的高度可变表达:肝脏基因表达调控和药物代谢和肝脏相关疾病的人际变异性的含义

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-01-01 Epub Date: 2019-09-30

J W Sun, J M Collins, D Ling, D Wang

{"title":"Highly Variable Expression of ESR1 Splice Variants in Human Liver: Implication in the Liver Gene Expression Regulation and Inter-Person Variability in Drug Metabolism and Liver Related Diseases.","authors":"J W Sun, J M Collins, D Ling, D Wang","doi":"","DOIUrl":"","url":null,"abstract":"Estrogen receptor alpha (ESR1) plays an important role in many tissues including the liver. Numerous alternative splice variants of ESR1 exist that encode ESR1 proteins with varying functions. We aim to study ESR1 genomic organization and its mRNA expression profile in human liver by incorporating information from literature and genomic databases (Ensembl, NCBI and GTEx), and employing a quantitative method to measure all known ESR1 mRNA splice variants in 36 human livers. We re-constructed ESR1 genomic organization map that contains 29 exons. ESR1 mRNA splice variants with varying 5' untranslated region (5'UTR) and/or missing each of eight coding exons are readily detectable in liver and other tissues. Moreover, we found extensive inter-individual variability in splice variant pattern of ESR1 transcripts. Specifically, ESR1 transcripts lacking first coding exon are the main transcripts in liver, which encode ESR1 proteins missing N-terminal 173 amino acids (for example, ERα46), reported previously to have either constitutive activity or dominant negative effects depending on cellular context. Moreover, some livers predominantly express ESR1 transcripts missing exon 10 or 16, encoding C-terminal truncated ESR1 proteins with varying ESR1 activities. Inter-person variability in ESR1 expression profile may contribute to inter-person variability in drug metabolism and susceptibility to liver related diseases.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37979667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neuroblastoma Associated Genes Are Enriched in Trunk Neural Crest 神经母细胞瘤相关基因在干神经嵴富集

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-01-01 DOI: 10.4172/1747-0862.1000412

Persson Cu, S. Mohlin

引用次数: 1

Antibiotic Prophylaxis for Transarterial Chemoembolization of Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis 肝细胞癌经动脉化疗栓塞的抗生素预防:系统回顾和荟萃分析

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-01-01 DOI: 10.4172/1747-0862.1000406

Y. Li, Z. Qing-an, M. Wu, Z. Guo, H. Jin

{"title":"Antibiotic Prophylaxis for Transarterial Chemoembolization of Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis","authors":"Y. Li, Z. Qing-an, M. Wu, Z. Guo, H. Jin","doi":"10.4172/1747-0862.1000406","DOIUrl":"https://doi.org/10.4172/1747-0862.1000406","url":null,"abstract":"Purpose: Owing to persistent controversy regarding the use of routine antibiotic prophylaxis in patients undergoing transarterial chemoembolization (TCAE) and the availability of several new studies published on the subject, we conducted an up-to-date meta-analysis to provide the best current evidence. The aim of the article is to assess whether antibiotic prophylaxis is effective in reducing the incidence of infectious complications after TCAE. Materials and methods: PubMed, Google scholar, Cochrane Central Register of Controlled Trials, CNKI and Wan-Fang database were searched through October 2018 for randomized or non-randomized controlled trials for comparing the use of prophylactic antibiotics in TACE with placebo or no antibiotics were included in the review. Pooled effect estimates were calculated using fixed-effects and random-effects models. Results: Eight studies with a total number of 1672 of procedures were included in the meta-analysis. We found no evidence of publication bias or heterogeneity among the studies. Antibiotic prophylaxis did not reduce the incidence of infectious complications (risk ratio [RR] 0.88, 95% confidence interval [CI] 0.62 to 1.24, p=0.464) and the rate of patients developing fever (RR 1.04, 95% CI 0.91 to 1.19, p=0.595). When the analyses were stratified into subgroups, there was no evidence that study design substantially influenced the estimate of effects. Furthermore, the sensitivity analysis confirmed the stability of our results. Conclusion: Although current evidence demonstrates that the routine use of antibiotic prophylaxis for TACE may not be necessary, more evidence from advanced multi-center studies is needed to provide instruction for the use of prophylactic antibiotics.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Secondary Multiple Cutaneous Metastases from Primary Gastric Signet-Ring Cell Adenocarcinoma 原发性胃印戒细胞腺癌继发多发性皮肤转移

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-01-01 DOI: 10.4172/1747-0862.1000414

C. Jian-jiao, W. Zhao

{"title":"Secondary Multiple Cutaneous Metastases from Primary Gastric Signet-Ring Cell Adenocarcinoma","authors":"C. Jian-jiao, W. Zhao","doi":"10.4172/1747-0862.1000414","DOIUrl":"https://doi.org/10.4172/1747-0862.1000414","url":null,"abstract":"A 60-year-old man was diagnosed with gastric cancer by endoscopy in our cancer center. Preoperative CT scan showed thickening of the cardia and enlarged lymph nodes in hepatogastric space. Consequently, he accepted total gastrectomy and Roux-en-Y reconstruction. Immunohistochemical detection showed intense positivity for GST-n and Pgp antibodies and negativity for EGFR, ERCC1, P53, Ki67 and HER-2. Surprisingly, within one month, the patient had multiple asymptomatic cutaneous nodules in the left neck, right subclavian, left armpit, left upper abdomen, lower abdomen, right groin and lumbodorsal region. Abdominal CT scan showed a 22 × 22 mm high-density lesion in the splenorenal space, as well as cutaneous nodules in the left upper abdomen, lower abdomen and right groin. Histopathologic examination of cutaneous biopsy showed a poorly differentiated signet-ring cell carcinoma consistent with a diagnosis of secondary metastasis of primary gastric carcinoma. The patient received “DOF” chemotherapy which do benefit to halt the disease progression. He decided not to continue with chemotherapy and died of multiorgan metastasis 2 months later.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Methylglyoxal Levels and Restless Leg Syndrome in Patients with Chronic Renal Failure 慢性肾衰竭患者的甲基乙二醛水平与不宁腿综合征

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2019-01-01 DOI: 10.4172/1747-0862.1000400

N. Benlier

引用次数: 0