Pub Date : 2017-07-14DOI: 10.4172/2379-1764.1000234
Z. Banlaki
More than 150 years after Mendel published his observations on the fundamental laws of inheritance and nearly 65 years after Avery provided unambiguous evidence that the hereditary material is DNA, unraveling the molecular basis underlying phenotypic plasticity and diversity is still a hot topic in genetics. Natural selection counteracts DNA sequence variation, yet losing genetic variation renders populations more vulnerable to changes in environmental conditions. This apparent contradiction can be resolved if adaptation is primarily dependent on altered gene regulation rather than on altered protein structures. Epigenetic modifications, which can effectively be maintained during cell division even across several generations, but at the same time are generally transient and as such, can flexibly be rearranged upon, e.g. environmental stimuli, offer an ideal solution to this inherent problem. In concert with these theoretical considerations, an increasing body of evidence demonstrates that evolutionary processes go hand in hand with shifts in epigenetic patterns, at least with regard to DNA methylation marks.
{"title":"DNA Methylation, Speciation and Domestication","authors":"Z. Banlaki","doi":"10.4172/2379-1764.1000234","DOIUrl":"https://doi.org/10.4172/2379-1764.1000234","url":null,"abstract":"More than 150 years after Mendel published his observations on the fundamental laws of inheritance and nearly 65 years after Avery provided unambiguous evidence that the hereditary material is DNA, unraveling the molecular basis underlying phenotypic plasticity and diversity is still a hot topic in genetics. Natural selection counteracts DNA sequence variation, yet losing genetic variation renders populations more vulnerable to changes in environmental conditions. This apparent contradiction can be resolved if adaptation is primarily dependent on altered gene regulation rather than on altered protein structures. Epigenetic modifications, which can effectively be maintained during cell division even across several generations, but at the same time are generally transient and as such, can flexibly be rearranged upon, e.g. environmental stimuli, offer an ideal solution to this inherent problem. In concert with these theoretical considerations, an increasing body of evidence demonstrates that evolutionary processes go hand in hand with shifts in epigenetic patterns, at least with regard to DNA methylation marks.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"99 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2017-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87993667","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 : 2017-07-14DOI: 10.4172/2379-1764.1000232
Jungwhoi Lee, Jae Hoon Kim
Pancreatic cancer remains one of the most deadly cancers, and once diagnosed, the prognosis for patient survival is poor. Patient outcomes have not been improved despite considerable and continuous efforts. We have suggested that dual-specificity phosphatase 28 (DUSP28) is a potential anti-cancer target to inhibit malignant pancreatic cancers. In this context, atypical DUSP28 can affect the regulation of mucins such as mucin5B (MUC5B) and mucin16 (MUC16). To investigate this correlation, we analysed mRNA levels of DUSP28 and mucins using the Gene Expression Omnibus public microarray database in pancreatic cancer, which indicated higher DUSP28, MUC1, MUC4, MUC5B, MUC16 and MUC20 mRNA levels in pancreatic cancers compared with normal pancreas tissue. In addition, DUSP28 expression in human pancreatic cancers correlated positively with those of MUC1, MUC4, MUC5B, MUC16 and MUC20. In contrast, there were no significant correlations between DUSP28 and mucins in normal pancreas tissues. Decreased DUSP28 expression resulted in down regulation of MUC5B and MUC16 at both the mRNA and protein levels. Furthermore, blockade of MUC5B or MUC16 expression inhibited migration and survival of cancer cells through the inhibition of phosphorylated FAK and ERK1/2. Collectively, we propose that DUSP28 uniquely links regulation of MUC5B and MUC16 to migration and survival of pancreatic cancer cells, which strongly support a rationale for targeting DUSP28 to inhibit development of malignant pancreatic cancer.
{"title":"Contribution of DUSP28 to Regulation of Mucins in Human Pancreatic Cancer Cells","authors":"Jungwhoi Lee, Jae Hoon Kim","doi":"10.4172/2379-1764.1000232","DOIUrl":"https://doi.org/10.4172/2379-1764.1000232","url":null,"abstract":"Pancreatic cancer remains one of the most deadly cancers, and once diagnosed, the prognosis for patient survival is poor. Patient outcomes have not been improved despite considerable and continuous efforts. We have suggested that dual-specificity phosphatase 28 (DUSP28) is a potential anti-cancer target to inhibit malignant pancreatic cancers. In this context, atypical DUSP28 can affect the regulation of mucins such as mucin5B (MUC5B) and mucin16 (MUC16). To investigate this correlation, we analysed mRNA levels of DUSP28 and mucins using the Gene Expression Omnibus public microarray database in pancreatic cancer, which indicated higher DUSP28, MUC1, MUC4, MUC5B, MUC16 and MUC20 mRNA levels in pancreatic cancers compared with normal pancreas tissue. In addition, DUSP28 expression in human pancreatic cancers correlated positively with those of MUC1, MUC4, MUC5B, MUC16 and MUC20. In contrast, there were no significant correlations between DUSP28 and mucins in normal pancreas tissues. Decreased DUSP28 expression resulted in down regulation of MUC5B and MUC16 at both the mRNA and protein levels. Furthermore, blockade of MUC5B or MUC16 expression inhibited migration and survival of cancer cells through the inhibition of phosphorylated FAK and ERK1/2. Collectively, we propose that DUSP28 uniquely links regulation of MUC5B and MUC16 to migration and survival of pancreatic cancer cells, which strongly support a rationale for targeting DUSP28 to inhibit development of malignant pancreatic cancer.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"65 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2017-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91318700","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 : 2017-06-29DOI: 10.4172/2379-1764.1000231
M. Brennan
Volume 5 • Issue 3 • 1000231 Adv Tech Biol Med, an open access journal ISSN: 2379-1764 Mycobacteria including Mycobacteria tuberculosis (Mtb) contain a multi-gene family, named the PE/PPE family. Mycobacterial strains contain about 165 genes, consisting of two major subfamilies the PE (containing the PE_PGRS group) and PPE, of which many of the constituents are very homologous (>50%). Since their discovery, scientists speculated about the role the members in this family might play in Mtb pathogenesis, immunity, evolution, and antigenic variation. Brennan et al. [1] in Issue 6 of Infection and Immunity, summarizes what is known about PE/PPEs with a particular focus on how they could be used in new TB vaccines. In fact, two TB vaccines presently being studied in clinical trials, GSK’s M72 and IDRI’s ID93, each contain a PPE protein. Another TB vaccine, the live Mtb mutant strain MtbΔPPE/ PE25-PE19 developed by the laboratories at the University of Pisa and Institute Pasteur, is a mutant which is missing two PEs and three PPEs, is under preclinical development. Evidence indicates that this vaccine is safe and is protective due to cross reactivity among the PE and PPEs in animal models for TB.
{"title":"The PE/PPE Multigene Family of Mycobacteria and TB Vaccines","authors":"M. Brennan","doi":"10.4172/2379-1764.1000231","DOIUrl":"https://doi.org/10.4172/2379-1764.1000231","url":null,"abstract":"Volume 5 • Issue 3 • 1000231 Adv Tech Biol Med, an open access journal ISSN: 2379-1764 Mycobacteria including Mycobacteria tuberculosis (Mtb) contain a multi-gene family, named the PE/PPE family. Mycobacterial strains contain about 165 genes, consisting of two major subfamilies the PE (containing the PE_PGRS group) and PPE, of which many of the constituents are very homologous (>50%). Since their discovery, scientists speculated about the role the members in this family might play in Mtb pathogenesis, immunity, evolution, and antigenic variation. Brennan et al. [1] in Issue 6 of Infection and Immunity, summarizes what is known about PE/PPEs with a particular focus on how they could be used in new TB vaccines. In fact, two TB vaccines presently being studied in clinical trials, GSK’s M72 and IDRI’s ID93, each contain a PPE protein. Another TB vaccine, the live Mtb mutant strain MtbΔPPE/ PE25-PE19 developed by the laboratories at the University of Pisa and Institute Pasteur, is a mutant which is missing two PEs and three PPEs, is under preclinical development. Evidence indicates that this vaccine is safe and is protective due to cross reactivity among the PE and PPEs in animal models for TB.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79029237","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 : 2017-06-28DOI: 10.4172/2379-1764.1000233
Víctor H. Anaya-Muñoz
{"title":"Flattening and Unpacking Human Genetic Variation in Mexico, Postwar to the Present","authors":"Víctor H. Anaya-Muñoz","doi":"10.4172/2379-1764.1000233","DOIUrl":"https://doi.org/10.4172/2379-1764.1000233","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"66 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74465680","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 : 2017-06-23DOI: 10.4172/2379-1764.1000230
J. Müller-Deile, M. Schiffer
microRNAs (miRs) are non-coding small RNAs that play an important role in posttranscriptional regulation of gene expression. Recent studies indicate that miRs are also mediators in different disease processes. Here we review how the zebrafish model can be used to study the role of miRs in glomerular function and disease. Microinjections of miR mimics were done in zebrafish eggs and larvae. A transgenic zebrafish line which expresses a green fluorescent plasma protein was used to investigate protein loss though the glomerular filtration barrier. Electron microscopy analysis revealed the level and degree of glomerular damage after miR overexpression. MiR- 143-3p seems to be important for glomerular glycocalyx as overexpression of miR-143-3p leads to down regulation of versican, proteinuria and damage on the endothelial and epithelial side of the glomerular filtration barrier. In contrast, overexpression of miR-378a-3p by injection of a specific miR mimic caused proteinuria, edema, podocyte effacement and thickening of the glomerular basement membrane. These findings could be rescued by coinjections of a nephronectin construct with a mutated 3’UTR region where the miR could not bind. Thus, miR mimics can be used in the zebrafish model to study the role of miRs involved in glomerular diseases.
{"title":"The Zebrafish Model to Study the Role of microRNAs in Glomerular Function and Disease","authors":"J. Müller-Deile, M. Schiffer","doi":"10.4172/2379-1764.1000230","DOIUrl":"https://doi.org/10.4172/2379-1764.1000230","url":null,"abstract":"microRNAs (miRs) are non-coding small RNAs that play an important role in posttranscriptional regulation of gene expression. Recent studies indicate that miRs are also mediators in different disease processes. Here we review how the zebrafish model can be used to study the role of miRs in glomerular function and disease. Microinjections of miR mimics were done in zebrafish eggs and larvae. A transgenic zebrafish line which expresses a green fluorescent plasma protein was used to investigate protein loss though the glomerular filtration barrier. Electron microscopy analysis revealed the level and degree of glomerular damage after miR overexpression. MiR- 143-3p seems to be important for glomerular glycocalyx as overexpression of miR-143-3p leads to down regulation of versican, proteinuria and damage on the endothelial and epithelial side of the glomerular filtration barrier. In contrast, overexpression of miR-378a-3p by injection of a specific miR mimic caused proteinuria, edema, podocyte effacement and thickening of the glomerular basement membrane. These findings could be rescued by coinjections of a nephronectin construct with a mutated 3’UTR region where the miR could not bind. Thus, miR mimics can be used in the zebrafish model to study the role of miRs involved in glomerular diseases.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"45 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2017-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85221692","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 : 2017-06-21DOI: 10.4172/2379-1764.1000229
Lie Chen, Mingjie Liu
Volume 5 • Issue 3 • 1000229 Adv Tech Biol Med, an open access journal ISSN: 2379-1764 Hydrogels are widely used in the field related to biological medicine, such as drug carrier and drug delivery vehicle due to their excellent biocompatibility [1]. In the last two decades, hydrogels with diverse stimuli responsiveness were developed and utilized to construct the controlled release systems. However, conventionally strategies that are reported to prepare stimuli-responsive hydrogels usually suffer from complex preparation procedures [2-4] and the using of sol-gel transition process of the hydrogel to realize the controlled release would inevitably lead to the burst release [5-7]. Overcoming these limitations, we report a post-modified hydrogel with photo-controlled release property by covalent tethering of photo-responsive superficial layers on hydrogel surfaces in Chemical Science [8].
{"title":"Commentary on Covalent Tethering of Photo-responsive Superficial Layers on Hydrogel Surfaces","authors":"Lie Chen, Mingjie Liu","doi":"10.4172/2379-1764.1000229","DOIUrl":"https://doi.org/10.4172/2379-1764.1000229","url":null,"abstract":"Volume 5 • Issue 3 • 1000229 Adv Tech Biol Med, an open access journal ISSN: 2379-1764 Hydrogels are widely used in the field related to biological medicine, such as drug carrier and drug delivery vehicle due to their excellent biocompatibility [1]. In the last two decades, hydrogels with diverse stimuli responsiveness were developed and utilized to construct the controlled release systems. However, conventionally strategies that are reported to prepare stimuli-responsive hydrogels usually suffer from complex preparation procedures [2-4] and the using of sol-gel transition process of the hydrogel to realize the controlled release would inevitably lead to the burst release [5-7]. Overcoming these limitations, we report a post-modified hydrogel with photo-controlled release property by covalent tethering of photo-responsive superficial layers on hydrogel surfaces in Chemical Science [8].","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"11 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2017-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79598396","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 : 2017-06-20DOI: 10.4172/2379-1764.1000228
E. Conti
The importance of carabid beetles in environmental study is reported. Among this group P. laevigatus is a useful bio indicator of metal pollution. The burden of trace elements in animal tissue reflects the contamination level of investigated areas. The alteration of orientation performances by this species put the basis to consider orientation in space of P. laevigatus as a behavioral biomarker for exposure to trace metals contamination.
{"title":"Ecotoxicological Evaluation of Parallelomorphus laevigatus (Coleoptera, Carabidae) as a Useful Bioindicator of Soil Metal Pollution","authors":"E. Conti","doi":"10.4172/2379-1764.1000228","DOIUrl":"https://doi.org/10.4172/2379-1764.1000228","url":null,"abstract":"The importance of carabid beetles in environmental study is reported. Among this group P. laevigatus is a useful bio indicator of metal pollution. The burden of trace elements in animal tissue reflects the contamination level of investigated areas. The alteration of orientation performances by this species put the basis to consider orientation in space of P. laevigatus as a behavioral biomarker for exposure to trace metals contamination.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"55 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2017-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88470121","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 : 2017-05-29DOI: 10.4172/2379-1764.1000225
Yaping Yan, Bo Zhang
Dopa-responsive dystonia (DRD), attributed to GTP cyclohydrolase 1 (GCH1) mostly, is a clinically and genetically heterogeneous disorder. Our recent study have identified that phenotype may not be identical to genotype, even in the same family. One patient with parkinsonism was found to carry GCH1 mutation. Why phenotype is not correlated to genotype? Whether GCH1 is a risk factor for developing Parkinson’s disease (PD)? Further genetic and clinical studies are necessary to elucidate these questions.
{"title":"Genotype-Phenotype Correlation - Two Families with GCH1 Mutations","authors":"Yaping Yan, Bo Zhang","doi":"10.4172/2379-1764.1000225","DOIUrl":"https://doi.org/10.4172/2379-1764.1000225","url":null,"abstract":"Dopa-responsive dystonia (DRD), attributed to GTP cyclohydrolase 1 (GCH1) mostly, is a clinically and genetically heterogeneous disorder. Our recent study have identified that phenotype may not be identical to genotype, even in the same family. One patient with parkinsonism was found to carry GCH1 mutation. Why phenotype is not correlated to genotype? Whether GCH1 is a risk factor for developing Parkinson’s disease (PD)? Further genetic and clinical studies are necessary to elucidate these questions.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"13 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2017-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89599864","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 : 2017-05-29DOI: 10.4172/2379-1764.1000226
Tranchida María Cecilia, Cabello Marta Noemí
In a murder case it is very common to find a corpse in a grave followed by the human decomposition. In a criminal act, the facts in a legal investigation are not clear enough to help clarify unnatural causes of death by suicide or homicide. Estimating the post-mortem interval (PMI), and mainly in cases where there are no witnesses, is crucial to the investigation process. However, the today study of certain species of fungi found and collected from soil in contact with a rotting human body; contribute to obtain important data useful to estimate the PMI of the victim in crime scene investigation. Dichotomomyces cejpii, Talaromyces trachyspermus, Talaromyces flavus and Talaromyces udagawae, teleomorphic Ascomycota fungal are the mycobiota currently found and clearly differs to associated mycobiota in control sample and from previously described species Buenos Aires Province, Argentina. Furthermore, additional tests are needed to finally rely on the mycology as a forensic tool.
{"title":"The Mycology as Forensics Tool","authors":"Tranchida María Cecilia, Cabello Marta Noemí","doi":"10.4172/2379-1764.1000226","DOIUrl":"https://doi.org/10.4172/2379-1764.1000226","url":null,"abstract":"In a murder case it is very common to find a corpse in a grave followed by the human decomposition. In a criminal act, the facts in a legal investigation are not clear enough to help clarify unnatural causes of death by suicide or homicide. Estimating the post-mortem interval (PMI), and mainly in cases where there are no witnesses, is crucial to the investigation process. However, the today study of certain species of fungi found and collected from soil in contact with a rotting human body; contribute to obtain important data useful to estimate the PMI of the victim in crime scene investigation. Dichotomomyces cejpii, Talaromyces trachyspermus, Talaromyces flavus and Talaromyces udagawae, teleomorphic Ascomycota fungal are the mycobiota currently found and clearly differs to associated mycobiota in control sample and from previously described species Buenos Aires Province, Argentina. Furthermore, additional tests are needed to finally rely on the mycology as a forensic tool.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"126 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2017-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83958966","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 : 2017-05-22DOI: 10.4172/2379-1764.1000224
J. Ianotto
Myeloproliferative neoplasms (MPN) are chronic myeloid disorders characterized by a high-risk of thrombosis. One-third is in venous vessels. Clinicians who treat patients experiencing thromboses in such vessels know the high rate of cancer in such situation. Many studies have been published concerning the screening for mutations that drive MPNs (mostly JAK2V617F and CALR mutations) in case of deep vein thromboses and/or pulmonary embolism. We reviewed the results of the studies published since 2005 (year of discovery of JAK2V617F, the most frequent of these mutations) and we analyzed the prevalence of mutations among the patients and their characteristics. Sixteen studies have been published on this topic. Of 2907 patients, 39 (1.3%) were positive for JAK2V617F, reaching 2.1% in case of history of recurrence. CALR mutations have not been found in any of the studied situations. Women represent 73.5% of the cases. Patients over the age of 60 account for 76.5% of the cases. Only 10 (29.4%) of the patients have been identified to have MPN despite a median follow-up period of 42 months. All had thrombocytosis or polycythemia at the time of the thrombosis. Nineteen patients experienced thrombotic recurrence, describing JAK2V617F mutation as a pro-thrombotic factor. Screening for JAK2V617F or CALR mutations should not be systematically performed for patients experiencing deep vein thromboses and/or pulmonary embolism because of the low rate of positivity. Attention should perhaps be focused on patients with persistent thrombocytosis or polycythemia who have a higher rate of MPNs. For the other positive cases with no features of MPN, the management is unclear, but a thorough evaluation by a hematologist should be performed, and the patients should be followed for years.
{"title":"Screening for MPN Mutations in Cases of Deep Vein Thrombosis and/or Pulmonary Embolism: What We have learnt from Studies","authors":"J. Ianotto","doi":"10.4172/2379-1764.1000224","DOIUrl":"https://doi.org/10.4172/2379-1764.1000224","url":null,"abstract":"Myeloproliferative neoplasms (MPN) are chronic myeloid disorders characterized by a high-risk of thrombosis. One-third is in venous vessels. Clinicians who treat patients experiencing thromboses in such vessels know the high rate of cancer in such situation. Many studies have been published concerning the screening for mutations that drive MPNs (mostly JAK2V617F and CALR mutations) in case of deep vein thromboses and/or pulmonary embolism. We reviewed the results of the studies published since 2005 (year of discovery of JAK2V617F, the most frequent of these mutations) and we analyzed the prevalence of mutations among the patients and their characteristics. Sixteen studies have been published on this topic. Of 2907 patients, 39 (1.3%) were positive for JAK2V617F, reaching 2.1% in case of history of recurrence. CALR mutations have not been found in any of the studied situations. Women represent 73.5% of the cases. Patients over the age of 60 account for 76.5% of the cases. Only 10 (29.4%) of the patients have been identified to have MPN despite a median follow-up period of 42 months. All had thrombocytosis or polycythemia at the time of the thrombosis. Nineteen patients experienced thrombotic recurrence, describing JAK2V617F mutation as a pro-thrombotic factor. Screening for JAK2V617F or CALR mutations should not be systematically performed for patients experiencing deep vein thromboses and/or pulmonary embolism because of the low rate of positivity. Attention should perhaps be focused on patients with persistent thrombocytosis or polycythemia who have a higher rate of MPNs. For the other positive cases with no features of MPN, the management is unclear, but a thorough evaluation by a hematologist should be performed, and the patients should be followed for years.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"70 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2017-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74170297","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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