Pub Date : 2019-05-15DOI: 10.4172/1747-0862.1000423
S. Joris, R. B. Shahi, S. DeBrakeleer, C. Fontaine, M. Bonduelle, Ingrid Pauwels, E. Teugels, J. Degreve
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). Methods: The files of familial cancer cases that underwent BRCA1/2 testing between 1994 and 2012 were retrospectively analyzed. Results: 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. Conclusion: 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.
{"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}
Pub Date : 2019-05-10DOI: 10.4172/1747-0862.1000425
S. Terracina
I have read with interest the review article by Dr. Jeremy Lee Kay Hock on the role of music in reducing anxiety and the amount of sedatives required in patients undergoing surgery [1]. The topic of this short review article may be considered very current and historically known at the same time, because, although the first scientific evidence on the anxiolytic and neuroendocrinological effects of music dates back to the eighties of the last century, during the perioperative time it is still not very common (especially here in Italy) the use of music as a non-pharmacological tool [2]. The topic is very actual and, if well analysed and studied, it could lead in the near future to organizational changes in the international operating rooms, highly because “music may not be available in all circumstances for every single patient” [1].
我饶有兴趣地阅读了Jeremy Lee Kay Hock博士关于音乐在减少焦虑中的作用以及手术患者所需镇静剂的数量的评论文章[1]。这篇简短评论文章的主题可能被认为是最新的，同时也是历史上已知的，因为尽管关于音乐的抗焦虑和神经内分泌作用的第一个科学证据可以追溯到上世纪80年代，在围手术期，将音乐作为非药物工具的使用仍然不太常见（尤其是在意大利）[2]。这个话题非常实际，如果分析和研究得当，它可能在不久的将来导致国际手术室的组织变革，这是因为“音乐可能不可能在所有情况下都适用于每个患者”[1]。
{"title":"Analysis of a Review Article on the Use of Music to Reduce Anxiety and Analgesic Consumption in Patients Undergoing Surgery","authors":"S. Terracina","doi":"10.4172/1747-0862.1000425","DOIUrl":"https://doi.org/10.4172/1747-0862.1000425","url":null,"abstract":"I have read with interest the review article by Dr. Jeremy Lee Kay Hock on the role of music in reducing anxiety and the amount of sedatives required in patients undergoing surgery [1]. The topic of this short review article may be considered very current and historically known at the same time, because, although the first scientific evidence on the anxiolytic and neuroendocrinological effects of music dates back to the eighties of the last century, during the perioperative time it is still not very common (especially here in Italy) the use of music as a non-pharmacological tool [2]. The topic is very actual and, if well analysed and studied, it could lead in the near future to organizational changes in the international operating rooms, highly because “music may not be available in all circumstances for every single patient” [1].","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45676442","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}
Pub Date : 2019-04-17DOI: 10.4172/1747-0862.1000420
Singh Ho, Maan Hs, T. Dhole
In today’s era, AIDS (Acquired immune deficiency syndrome) has been changed from a death sentence to a manageable chronic disease after usage of antiretroviral therapy (ART). Although, according to NACO 2015 and UNAIDS 2017, there was a 54% decline in AIDS death from 2007 to 2015 and an overall 32% decline in new HIV infection (80,000 in 2016). It is still one of the leading causes of death. UNAIDS (2017) reported 2.1 million (1.324 billion) people living with HIV in India and with a ranked third in the world.
{"title":"Gene Silencing: A Novel Approach and Suppression of HIV-1 Gene","authors":"Singh Ho, Maan Hs, T. Dhole","doi":"10.4172/1747-0862.1000420","DOIUrl":"https://doi.org/10.4172/1747-0862.1000420","url":null,"abstract":"In today’s era, AIDS (Acquired immune deficiency syndrome) has been changed from a death sentence to a manageable chronic disease after usage of antiretroviral therapy (ART). Although, according to NACO 2015 and UNAIDS 2017, there was a 54% decline in AIDS death from 2007 to 2015 and an overall 32% decline in new HIV infection (80,000 in 2016). It is still one of the leading causes of death. UNAIDS (2017) reported 2.1 million (1.324 billion) people living with HIV in India and with a ranked third in the world.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45817550","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}
Pub Date : 2019-04-02DOI: 10.4172/1747-0862.1000417
A. Giubellino, Y. Zhou
Spitz neoplasms are relatively uncommon melanocytic lesions characterized by an epithelioid or spindled cell morphology and present more commonly in younger age. They represent a spectrum from benign to malignant lesions which sometime represent a diagnostic conundrum. Recent advances in the genetic characterization of these lesions allow a better classification with consequent improvement in diagnostic accuracy and patient management. This review aims at summarizing our recent understanding of these lesions at the molecular level.
{"title":"Molecular Characterization of Spitz Tumors: An Approach to Improve Disease Diagnosis and Classification","authors":"A. Giubellino, Y. Zhou","doi":"10.4172/1747-0862.1000417","DOIUrl":"https://doi.org/10.4172/1747-0862.1000417","url":null,"abstract":"Spitz neoplasms are relatively uncommon melanocytic lesions characterized by an epithelioid or spindled cell morphology and present more commonly in younger age. They represent a spectrum from benign to malignant lesions which sometime represent a diagnostic conundrum. Recent advances in the genetic characterization of these lesions allow a better classification with consequent improvement in diagnostic accuracy and patient management. This review aims at summarizing our recent understanding of these lesions at the molecular level.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46877388","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}
Pub Date : 2019-02-28DOI: 10.4172/1747-0862.1000396
J. Greilberger, M. Greilberger, R. Herwig
{"title":"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","authors":"J. Greilberger, M. Greilberger, R. Herwig","doi":"10.4172/1747-0862.1000396","DOIUrl":"https://doi.org/10.4172/1747-0862.1000396","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48078597","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}
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.
{"title":"Highly Variable Expression of <i>ESR1</i> 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":"<p><p>Estrogen receptor alpha (<i>ESR1</i>) plays an important role in many tissues including the liver. Numerous alternative splice variants of <i>ESR1</i> exist that encode <i>ESR1</i> proteins with varying functions. We aim to study <i>ESR1</i> 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 <i>ESR1</i> mRNA splice variants in 36 human livers. We re-constructed <i>ESR1</i> genomic organization map that contains 29 exons. <i>ESR1</i> 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 <i>ESR1</i> transcripts. Specifically, <i>ESR1</i> transcripts lacking first coding exon are the main transcripts in liver, which encode <i>ESR1</i> 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 <i>ESR1</i> transcripts missing exon 10 or 16, encoding C-terminal truncated <i>ESR1</i> proteins with varying <i>ESR1</i> activities. Inter-person variability in <i>ESR1</i> expression profile may contribute to inter-person variability in drug metabolism and susceptibility to liver related diseases.</p>","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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000412
Persson Cu, S. Mohlin
Neuroblastoma is the most common malignancy in infants less than 1 year. Patients can, in rare cases, be born with their tumor, suggesting that priming and/or initiating events occur already during embryogenesis and fetal development [1]. Neuroblastomas are found along sympathetic ganglia with the abdominal region and adrenal glands being the most common sites. Previous studies comparing spatial distribution of common neuroblastoma cell markers with that in healthy human embryos and fetuses have demonstrated that neuroblastoma cells share an expression profile with neural crest-derived sympathoadrenal progenitorand sympathetic neuronal cells [2-5].
{"title":"Neuroblastoma Associated Genes Are Enriched in Trunk Neural Crest","authors":"Persson Cu, S. Mohlin","doi":"10.4172/1747-0862.1000412","DOIUrl":"https://doi.org/10.4172/1747-0862.1000412","url":null,"abstract":"Neuroblastoma is the most common malignancy in infants less than 1 year. Patients can, in rare cases, be born with their tumor, suggesting that priming and/or initiating events occur already during embryogenesis and fetal development [1]. Neuroblastomas are found along sympathetic ganglia with the abdominal region and adrenal glands being the most common sites. Previous studies comparing spatial distribution of common neuroblastoma cell markers with that in healthy human embryos and fetuses have demonstrated that neuroblastoma cells share an expression profile with neural crest-derived sympathoadrenal progenitorand sympathetic neuronal cells [2-5].","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":"70955903","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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000406
Y. Li, Z. Qing-an, M. Wu, Z. Guo, H. Jin
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.
目的:由于关于经动脉化疗栓塞(TCAE)患者使用常规抗生素预防的争议持续存在，以及关于该主题的几项新研究的可用性，我们进行了一项最新的荟萃分析，以提供当前最好的证据。本文的目的是评估抗生素预防是否有效减少TCAE后感染并发症的发生率。材料和方法:检索PubMed、谷歌scholar、Cochrane Central Register of Controlled Trials、中国知网(CNKI)和万方数据库，检索截至2018年10月的随机或非随机对照试验，比较TACE中预防性抗生素的使用与安慰剂或不使用抗生素。使用固定效应和随机效应模型计算合并效应估计。结果:8项研究共1672例手术纳入meta分析。我们没有发现在这些研究中存在发表偏倚或异质性的证据。抗生素预防并没有降低感染并发症的发生率(风险比[RR] 0.88, 95%可信区间[CI] 0.62 ~ 1.24, p=0.464)和发热患者的发生率(RR 1.04, 95% CI 0.91 ~ 1.19, p=0.595)。当分析被分层到亚组时，没有证据表明研究设计实质上影响了效果的估计。此外，敏感性分析证实了我们的结果的稳定性。结论:虽然目前的证据表明，常规使用抗生素预防TACE可能没有必要，但需要更多来自先进的多中心研究的证据来为预防性抗生素的使用提供指导。
{"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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000414
C. Jian-jiao, W. Zhao
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.
{"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}
Pub Date : 2019-01-01DOI: 10.4172/1747-0862.1000400
N. Benlier
Restless leg syndrome occurs frequently among patients with end-stage renal disease. Although the etiopathogenesis of restless leg syndrome has not been fully elucidated, advanced age, female gender, positive family history, chronic renal failure, pregnancy and folic acid and iron deficiency have all been implicated. Recent studies found a diminished ability of D2 receptors to bind ligands and reduced 18F-dopa uptake in the putamen and striatum in patients with restless leg syndrome. A marked increase in the plasma concentrations of glycation end-products was observed in uremic patients. Methylglyoxal is a major end-product of glycolysis. Methylglyoxal is a reactive carbonyl species that is formed during glucose metabolism. Methylglyoxal may increase the dopamine concentration and other toxic metabolites such as salsolinol in dopaminergic neurons and dopamine-mediated oxidative stress could contribute to damage of dopaminergic neurons.
{"title":"Methylglyoxal Levels and Restless Leg Syndrome in Patients with Chronic Renal Failure","authors":"N. Benlier","doi":"10.4172/1747-0862.1000400","DOIUrl":"https://doi.org/10.4172/1747-0862.1000400","url":null,"abstract":"Restless leg syndrome occurs frequently among patients with end-stage renal disease. Although the etiopathogenesis of restless leg syndrome has not been fully elucidated, advanced age, female gender, positive family history, chronic renal failure, pregnancy and folic acid and iron deficiency have all been implicated. Recent studies found a diminished ability of D2 receptors to bind ligands and reduced 18F-dopa uptake in the putamen and striatum in patients with restless leg syndrome. A marked increase in the plasma concentrations of glycation end-products was observed in uremic patients. Methylglyoxal is a major end-product of glycolysis. Methylglyoxal is a reactive carbonyl species that is formed during glucose metabolism. Methylglyoxal may increase the dopamine concentration and other toxic metabolites such as salsolinol in dopaminergic neurons and dopamine-mediated oxidative stress could contribute to damage of dopaminergic neurons.","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":"70955440","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}
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