Journal of molecular and genetic medicine : an international journal of biomedical research最新文献

{"title":"A New Era in Functional Genomics Using CRISPR/Cas9 Knockout Screening","authors":"W. Cai, Weijing Li, Dan Yang, Hua‐An Xie, Jian Huang","doi":"10.4172/1747-0862.1000345","DOIUrl":"https://doi.org/10.4172/1747-0862.1000345","url":null,"abstract":"In this commentary, we discussed the new exciting progress in CRISPR based screening technology field and highlight recent developments in the area of CRISPR-based functional genomics. High-throughput functional genomics using CRISPR-Cas9 revolutionized our ability to decipher cellular function in health and disease. Despite its limitations, the simplicity and effectiveness of CRISPR/Cas9 based screening, makes an enormous impact on genomic screening and thus scientific discovery.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000345","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48223818","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}

{"title":"The Laws of the Ring: Governing Mechanisms, Diagnostic Standards, and Therapeutic Potentials for Human Constitutional Ring Chromosomes","authors":"P. Li, Q. Hu","doi":"10.4172/1747-0862.1000341","DOIUrl":"https://doi.org/10.4172/1747-0862.1000341","url":null,"abstract":"Human constitutional ring chromosomes are a rare type of chromosome structural abnormalities. The cytogenomic analysis of ring chromosome cases revealed different genomic imbalances and ring structures, variable levels of dynamic mosaicism, and selective karyotype evolution in different tissues. This cytogenomic heterogeneity is likely correlated with variable clinical manifestations of generalized features of ‘ring chromosome syndrome’, chromosome-specific and segmental aneuploidy related phenotypes, and risks of infertility and various types of cancers. Better understanding of the ‘biologic law’ governing ring chromosome formation and its mitotic segregation can contribute to the ‘diagnostic law’ guiding toward best practice in genetic analyses and the ‘therapeutic law’ for evidence-based treatment and management of ring chromosome disorders. Collaborative efforts are needed to study the biological processes involving ring chromosome formation, mitotic segregation and cell-autonomous correction, to develop cytogenomic diagnostic standards, and to generate registry of ring chromosome cases with defined genomic structures and dynamic mosaicism and detailed clinical manifestations. These efforts could provide more reliable karyotype-phenotype correlations for developing chromosome-specific guidelines and recommendations for genetic counseling and clinical treatment.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000341","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46045018","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}

{"title":"Mathematical (Quantitative) and Cell Linguistic (Qualitative) Evidence for Hypermetabolic Pathways as Potential Drug Targets","authors":"Ji S","doi":"10.4172/1747-0862.1000343","DOIUrl":"https://doi.org/10.4172/1747-0862.1000343","url":null,"abstract":"Objectives: According to the cell language theory first proposed in 1997, living cells use a molecular language whose structure is similar to (or isomorphic) with the structures of the human language with respect to the 10 out of the 13 design features established by linguists. One of the predictions of the cell language theory is that there should exist in the living cell what is referred to as ‘hypermetabolic pathways’ that correspond to texts in human language deemed essential for reasoning and computing. A mathematical method known as the Planck-Shannon plot is described that can be employed to identify the predicted hypermetabolic pathways that underlie human breast cancer and hence can serve as potential anti-cancer drug targets. \u0000Data and analytic method: The gene expression profile data measured with microarrays were provided by Perez- Ortin’s group in Valencia, Spain and Perou and his coworkers at Stanford University. The mRNA data were transformed into histograms which were then fitted to the Planck Distribution Equation (PDE y = ((A / (x + B)5 ) / (eC/ ( x + B) – 1)) , to generate the numerical values for the parameters, A, B and C, that quantitatively characterize the shape of each histogram and hence the information contained in the original mRNA data set. The fitting of mRNA data to PDE was performed by the Sovler program available in Excel. Results: The hypermetabolic pathways, both intra-organismic, and inter-organismic, that are predicted by the cell language theory can be identified with the PDE-based analysis of mRNA data. The intra-organismic hypermetabolic pathway identified with PDE consists of 3 or more traditional metabolic pathways, while the interorganismic hypermetabolic pathway consists of one traditional metabolic pathway whose activity is correlated among 3 or more organisms exhibiting a common phenotype, e.g., breast cancer. \u0000Conclusion: Ribonoscopy, defined as the genome-wide study of mRNA levels within an organism or between different organisms, when combined with the quantitative method of analysis afforded by the Planck Distribution Equation (PDE), can identify a novel class of metabolic structures referred to as “intra-organismic hypermetabolic pathways” and “inter-organismic hypermetabolic pathways” that can serve as potential targets of cancer drug therapy.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2018-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000343","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42034686","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}

{"title":"Practical Advices About How To Handle Disease Progression During Osimertinib In EGFR-Mutant NSCLC Patients: Is It The Same Old Story? A Mini Review","authors":"A. Cortellini, F. Buttitta, A. Marchetti, C. Ficorella","doi":"10.4172/1747-0862.1000338","DOIUrl":"https://doi.org/10.4172/1747-0862.1000338","url":null,"abstract":"After the advent of third generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs), oncologists are called to face new challenges in everyday management of EGFR mutated non-small-cell-lungcancer (NSCLC) patients. These drugs, in particular Osimertinib (which is the only one currently available), represent an extraordinary innovation. But while raising the bar of expectations, they pose us new challenges. Mechanisms of resistance to Osimertinib are heterogeneous: from a \"molecular point of view\" they can be categorized in EGFR-dependent and independent ones. In recent years many clinical reports have shown interesting results with target treatments, mainly chosen on the basis of the \"molecular resistance\". However, in common practice clinicians and patients must face off with the reality and with limited treatment options. It may be helpful to classify different clinical patterns of disease progression during treatment with Osimertinib. Treating a localized progression to a single organ certainly differs from treating a wide dissemination of disease, as well as treating symptomatic progressions differs from treating non-symptomatic ones. This mini-review aims to analyse, with a very practical approach, current options for clinical management of EGFR mutant NSCLC patient at the time of disease progression during Osimertinib, by focusing particularly on maintenance strategies beyond progression.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2018-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000338","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42231546","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}

{"title":"Caspase-Cleaved Cytokeratin 18 as a Potential Molecular Biomarker for Monitoring Chemotherapeutic Response in Breast Cancer Patients","authors":"Y. Gemechu, D. Seifu, W. Tigneh, Labisso Wl","doi":"10.4172/1747-0862.1000339","DOIUrl":"https://doi.org/10.4172/1747-0862.1000339","url":null,"abstract":"Background: Breast cancer is one of the most dreadful cancer types, with the highest mortality and morbidity in women in both low and high-income countries. Cytokeratins can be applied as noninvasive, efficient and satisfactory molecular tools to monitor and predict the response to chemotherapy for breast cancer. Objective: This study was intended to explore the potential application of ccCK18 as a molecular biomarker for monitoring and predicting the efficacy of chemotherapy on breast cancer patients. Methodology: A hospital-based prospective study was conducted on 40 breast cancer patients and 38 apparently healthy control individuals in Black Lion Specialized Hospital. Blood samples were obtained from study subjects and control groups before chemotherapy, at 4 and 6 hours after chemotherapy. An ELISA assay was applied to measure plasma caspase-cleaved Cytokeratin 18 (ccCK18). The association between expression of ccCK18 and the tumor metastasis and stages and grades were determined with ELISA. Different biochemical tests were also carried out to investigate the function of liver in relation to ccCK18 level with respect to cancer chemotherapy. Wilcoxon signed rank test, Spearman’s rho test and paired t-test were applied as statistical tools to determine association and correlation among different the study parameters. A p-value of <0.05 was considered as statistically significant. Results: The baseline levels of plasma ccCK-18 were significantly higher in patients with breast cancer than those in the control group (% CI= 95%, p<0.05). The level of ccCK-18 was also significantly increased at 6 hours after chemotherapy (p<0.05). Patients with pT3 tumor size displayed the highest median level compared to other tumor sizes. The ccCK-18 level was observed to be higher among patients with distant metastasis than in nonmetastatic patients. Lactate dehydrogenase (LDH) levels were also elevated at 6 hours, following chemotherapy. Plasma liver function tests (ALT, AST, ALP and total bilirubin) were normal before and after chemotherapy, indicating that there was no major liver damage following chemotherapy. Conclusion: ccCK-18 level in blood could be used as a molecular biomarker for monitoring the disease and predicting the response of patients to breast cancer chemotherapy, particularly in low settings; however, further studies with other protocols are warranted to tailor chemotherapy treatment in a better way.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2018-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000339","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47679240","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}

{"title":"Donepezil for Constipation in Lewy Body Disease: A Twelve-Month Follow-Up","authors":"Lepkowsky Cm","doi":"10.4172/1747-0862.1000337","DOIUrl":"https://doi.org/10.4172/1747-0862.1000337","url":null,"abstract":"Previously, the acetylcholinesterase inhibitor Donepezil was used in a case study to address the symptoms of constipation, obstipation, and impaction in four patients with Lewy Body diseases. In patients with both Parkinson’s disease (PD) and Neurocognitive Disorder with Lewy Bodies (NCDLB), the use of Donepezil led to symptom reduction. After six months, the symptoms of the same patients were reviewed, with no loss of bowel motility nor emergence of new symptoms. After twelve months, another review of symptoms was conducted. The results indicate that Donepezil appears to be effective in reducing the symptoms of constipation, obstipation and impaction over an extended period of treatment.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2018-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000337","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45983542","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}

{"title":"Fetal Chimerism and Fetal Thymic Transplantation","authors":"N. Bhattacharya, P. Sengupta","doi":"10.4172/1747-0862.1000334","DOIUrl":"https://doi.org/10.4172/1747-0862.1000334","url":null,"abstract":"Fetal tissue transplantation is an attractive field of modern medicine that can have immense application in treating several refractile conditions. Fetal tissue transplantation is an allogeneic transplantation procedure and like any allogeneic transplantation they contribute towards the formation of a chimera at the cellular and tissue level grossly and can be classified as a macro chimerism. The fetus during the time of pregnancy also takes part in microchimerism through fetomaternal cell trafficking where there is an exchange of the maternal and the fetal cells through the blood-placental barrier. Apart from the creation of a stable chimerism, fetal tissues also play a role in healing. Fetal thymic transplantation is one of the most exciting applications of regenerative medicine which has also been discussed briefly with some case studies.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2018-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48716416","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}

{"title":"An Approach to Enhancing the Life Experience of Patients with Early Alzheimer s Disease","authors":"Howe Eg","doi":"10.4172/1747-0862.1000333","DOIUrl":"https://doi.org/10.4172/1747-0862.1000333","url":null,"abstract":"In this brief piece, I shall describe how providers seeing such patients may do this. I shall start with a case example involving a patient with who I carried out this intervention. The extent to which this emotionally moved her and gave her additional meaning in her life while, for her, both were still possible were marked, as I shall relate further, below, to say the least. I shall then refer to a small and very selected segment of the medical literature to suggest why provides might be warranted in anticipating that their inquiring and if wanted, then facilitating as I shall suggest, is likely to be beneficial, actually to both parties in most if not all cases. Finally, I shall discuss in more general terms the core, sequential steps that providers may take.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000333","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46721852","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}

{"title":"Impact of Climatic Fluctuation on Dengue Virus Etiology","authors":"K. Tilwani, G. Dave, Nadurbarkar","doi":"10.4172/1747-0862.1000331","DOIUrl":"https://doi.org/10.4172/1747-0862.1000331","url":null,"abstract":"Aedes mosquito-body is the favored habitat for the member of Flaiviridae, the most famous member of the family, formerly known as Dengue virus (DENV). Dengue virus infection induces high fever in human and responsible for associated symptoms like skin rashes. In literature, it has been noted that the onset of dengue fever usually occurs in monsoon and winter seasons, which gradually declines with onset of summer. This season-coordinated trend has suggested positive association towards the climate and proliferation of Dengue virus. To investigate this hypothesis, this study has been proposed. In this study, the date-wise data for Dengue positive cases were obtained from the Government hospitals across Gujarat region. The data were further correlated with the climatic parameters for that date. The investigation suggests the strong correlation between climatic fluctuations. The correlation analysis of obtain data suggests the fluctuations in relative humidity, temperature and pressure during day and night has strong impact. We proposed Poisson regression model and Negative Binomial model for prediction.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2018-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000331","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47862121","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}

{"title":"Parkinson’s Disease: A Case Report of Motor Symptoms Resolution Following Antibiotic Treatment for Suspected Bacterial Osteomyelitis","authors":"Leheste, Gottlieb Sf, Biegel Ca, Ramos Rl, G. Torres, G. Saggio","doi":"10.4172/1747-0862.1000328","DOIUrl":"https://doi.org/10.4172/1747-0862.1000328","url":null,"abstract":"Background and case: The vast majority of Parkinson’s disease (PD) cases occur sporadically without any obvious etiological schema. That poses major hurdles to the discovery of effective preventative and treatment strategies. Here we are reporting the case of an 86-year-old Caucasian male, with a 21-year history of PD, who reports complete resolution of PD - related motor symptoms after treatment with antibiotics for suspected bacterial osteomyelitis.Results: After a right leg injury, the patient was prescribed a ten-day course of ciprofloxacin and a four-week course of dicloxacillin for suspected osteomyelitis. After completion of the antibiotics, the patient reported his pervasive motor symptoms as “completely resolved” which to this day have not returned.Conclusion: PD is a progressive, mostly idiopathic, neurodegenerative disorder with effective but limited treatment options and without compelling preventative strategies. Here we identify the first case indicating the resolution of PD-linked motor symptoms following an unrelated treatment course with antibiotics. This raises interesting questions about the use of antibiotics in PD and the potential of an etiological bacterial connection. The microbiome signature of PD is a current ‘hot topic’ of investigation and studies need to continue investigating bacteria as a possible causes of PD and antibiotics as effective treatment modalities.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000328","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45962807","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}