{"title":"2013 Reviewers List","authors":"Xuejun Kong","doi":"10.1109/tdsc.2014.2","DOIUrl":"https://doi.org/10.1109/tdsc.2014.2","url":null,"abstract":"","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84588026","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 : 2018-08-23DOI: 10.1117/1.jei.25.1.010102
Xuejun Kong
{"title":"2015 Reviewers List","authors":"Xuejun Kong","doi":"10.1117/1.jei.25.1.010102","DOIUrl":"https://doi.org/10.1117/1.jei.25.1.010102","url":null,"abstract":"","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81648766","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 : 2018-08-23DOI: 10.1109/tdsc.2016.2641858
Xuejun Kong
{"title":"2016 Reviewers List","authors":"Xuejun Kong","doi":"10.1109/tdsc.2016.2641858","DOIUrl":"https://doi.org/10.1109/tdsc.2016.2641858","url":null,"abstract":"","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"119 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86103236","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}
Chronic Hepatitis C virus (HCV) infection carries a significant clinical burden in the United States, affecting more than 4.6 million Americans. Untreated chronic HCV infection can result in cirrhosis, portal hypertension, and hepatocellular carcinoma. Previous interferon based treatment carried low rates of success and significant adverse effects. The advent of new generation oral antiviral therapy has led to major improvements in efficacy and tolerability but has also resulted in an explosion of data with increased treatment choice complexity. Treatment guidelines are constantly evolving due to emerging regimens and real world treatment data. There also still remain subpopulations for whom current treatments are lacking or unclearly defined. Thus, the race for development of HCV treatment regimens still continues. This review of the current literature will discuss the current recommended treatment strategies and briefly overview next generation agents.
{"title":"Chronic Hepatitis C Virus Infection: A Review of Current Direct-Acting Antiviral Treatment Strategies.","authors":"Johnathan Zhang, Douglas Nguyen, Ke-Qin Hu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Chronic Hepatitis C virus (HCV) infection carries a significant clinical burden in the United States, affecting more than 4.6 million Americans. Untreated chronic HCV infection can result in cirrhosis, portal hypertension, and hepatocellular carcinoma. Previous interferon based treatment carried low rates of success and significant adverse effects. The advent of new generation oral antiviral therapy has led to major improvements in efficacy and tolerability but has also resulted in an explosion of data with increased treatment choice complexity. Treatment guidelines are constantly evolving due to emerging regimens and real world treatment data. There also still remain subpopulations for whom current treatments are lacking or unclearly defined. Thus, the race for development of HCV treatment regimens still continues. This review of the current literature will discuss the current recommended treatment strategies and briefly overview next generation agents.</p>","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"9 2","pages":"47-54"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897966/pdf/nihms790638.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34570864","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 : 2015-05-01DOI: 10.7156/NAJMS.2015.0802059
Tao Huang, Xi Zhang
Results from observational studies on dietary fiber intake on total mortality and cause-specific mortality are inconsistent. The objective of the present meta-analysis was to investigate dietary fiber intake and mortality, and cause-specific mortality. Medline, EMBASE and web of science database was searched for cohort studies published from inception to February 2013. Studies were included if they provided a hazard ratio (HR) and corresponding 95% CI for mortality in relation to fiber consumption. A database was developed on the basis of 25 eligible studies and 42 cohorts, including 1,752,848 individuals with an average 12.4 years of follow-up. Compared with those who consumed lowest fiber, for individuals who ate highest fiber, mortality rate was lower by 23% (HR, 0.77; 95% CI, 0.72-0.81) for cardiovascular diseases (CVD), by 23% (HR, 0.77; 95% CI, 0.73-0.81 ) for all-cause mortality, by 17% (HR, 0.83; 95% CI, 0.74- 0.91 ) for cancer, by 68% for digestive diseases, by 58 % for infectious diseases, 43 % for inflammatory diseases. For each 10 g/d increase in fiber intake, the pooled HR was estimated to be 0.89 (95% CI, 0.86-0.93 ) for all-cause mortality, 0.91 (95% CI, 0.88-0.94 ) for cancer, 0.80 (95% CI, 0.72-0.88 ) for coronary heart disease (CHD) mortality , and 0.66 (95% CI, 0.40-0.92 ) for ischemic heart disease (IHD) mortality . Dietary fiber and CVD mortality showed a strong dose-response relation. For each 10 g/d increase in fiber intake, the pooled HR of CVD mortality was estimated to be 0.83 (95% CI, 0.80-0.87 ; P for trend=0.0 0 1). In conclusion, our meta-analysis results clearly show that h igh dietary fiber intake is associated with low all-cause mortality and mortality due to CVD, CHD, cancer, digestive disease, infectious diseases, and other inflammatory diseases.
{"title":"Dietary Fiber Intake and Mortality from All Causes, Cardiovascular Disease, Cancer, Infectious Diseases and Others: A Meta-Analysis of 42 Prospective Cohort Studies with 1,752,848 Participants","authors":"Tao Huang, Xi Zhang","doi":"10.7156/NAJMS.2015.0802059","DOIUrl":"https://doi.org/10.7156/NAJMS.2015.0802059","url":null,"abstract":"Results from observational studies on dietary fiber intake on total mortality and cause-specific mortality are inconsistent. The objective of the present meta-analysis was to investigate dietary fiber intake and mortality, and cause-specific mortality. Medline, EMBASE and web of science database was searched for cohort studies published from inception to February 2013. Studies were included if they provided a hazard ratio (HR) and corresponding 95% CI for mortality in relation to fiber consumption. A database was developed on the basis of 25 eligible studies and 42 cohorts, including 1,752,848 individuals with an average 12.4 years of follow-up. Compared with those who consumed lowest fiber, for individuals who ate highest fiber, mortality rate was lower by 23% (HR, 0.77; 95% CI, 0.72-0.81) for cardiovascular diseases (CVD), by 23% (HR, 0.77; 95% CI, 0.73-0.81 ) for all-cause mortality, by 17% (HR, 0.83; 95% CI, 0.74- 0.91 ) for cancer, by 68% for digestive diseases, by 58 % for infectious diseases, 43 % for inflammatory diseases. For each 10 g/d increase in fiber intake, the pooled HR was estimated to be 0.89 (95% CI, 0.86-0.93 ) for all-cause mortality, 0.91 (95% CI, 0.88-0.94 ) for cancer, 0.80 (95% CI, 0.72-0.88 ) for coronary heart disease (CHD) mortality , and 0.66 (95% CI, 0.40-0.92 ) for ischemic heart disease (IHD) mortality . Dietary fiber and CVD mortality showed a strong dose-response relation. For each 10 g/d increase in fiber intake, the pooled HR of CVD mortality was estimated to be 0.83 (95% CI, 0.80-0.87 ; P for trend=0.0 0 1). In conclusion, our meta-analysis results clearly show that h igh dietary fiber intake is associated with low all-cause mortality and mortality due to CVD, CHD, cancer, digestive disease, infectious diseases, and other inflammatory diseases.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"83 1","pages":"059"},"PeriodicalIF":0.0,"publicationDate":"2015-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80420990","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 : 2015-04-30DOI: 10.7156/NAJMS.2015.0802068
He Dong, Sisi Qin, M. Rafailovich, Yupo Ma
Hematopoietic stem cells (HSCs), characterized by their CD34 glycoprotein expression, can be extensively exploited in a variety of clinical applications to treat bone-marrow related disorders and cancers, which affect hundreds of thousands worldwide. HSCs are known to efficiently self-renew and maintain their quiescent state in their in vivo microenvironment, but rapidly lose their multipotency in vitro due to quick onsets of differentiation. Shortages of available donor cells have led to scientific interest in developing biofunctional scaffolds – such as cross-linked polymer hydrogels – that mimic the natural stem cell niche. Here we show that a firm, gelatin-based hydrogel cross-linked by microbial transglutaminase (mTG) (in a ratio of 1:25 mTG to gelatin) is ideal for quiescent self-renewal, and that the purine derivative, Stemregenin 1 (SR1), aids in directing cell migration, proliferation, and stemness. The 1:25 ratio with exposure to SR1 yielded a promisingly high stemness level of 94.53%. Our results demonstrate the previously undocumented effectiveness of gelatin hydrogels as biomimetic scaffolds suitable for HSC expansion. Furthermore, our findings and the culture system we have developed are expected to facilitate bone marrow disease treatment by providing large quantities of quiescent HSCs for medical applications and potentially diminishing the high demand for marrow donors.
{"title":"Developing an Optimal Biofunctional Scaffold for Hematopoietic Stem Cell Quiescent Maintenance and Expansion","authors":"He Dong, Sisi Qin, M. Rafailovich, Yupo Ma","doi":"10.7156/NAJMS.2015.0802068","DOIUrl":"https://doi.org/10.7156/NAJMS.2015.0802068","url":null,"abstract":"Hematopoietic stem cells (HSCs), characterized by their CD34 glycoprotein expression, can be extensively exploited in a variety of clinical applications to treat bone-marrow related disorders and cancers, which affect hundreds of thousands worldwide. HSCs are known to efficiently self-renew and maintain their quiescent state in their in vivo microenvironment, but rapidly lose their multipotency in vitro due to quick onsets of differentiation. Shortages of available donor cells have led to scientific interest in developing biofunctional scaffolds – such as cross-linked polymer hydrogels – that mimic the natural stem cell niche. Here we show that a firm, gelatin-based hydrogel cross-linked by microbial transglutaminase (mTG) (in a ratio of 1:25 mTG to gelatin) is ideal for quiescent self-renewal, and that the purine derivative, Stemregenin 1 (SR1), aids in directing cell migration, proliferation, and stemness. The 1:25 ratio with exposure to SR1 yielded a promisingly high stemness level of 94.53%. Our results demonstrate the previously undocumented effectiveness of gelatin hydrogels as biomimetic scaffolds suitable for HSC expansion. Furthermore, our findings and the culture system we have developed are expected to facilitate bone marrow disease treatment by providing large quantities of quiescent HSCs for medical applications and potentially diminishing the high demand for marrow donors.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"357 1","pages":"068"},"PeriodicalIF":0.0,"publicationDate":"2015-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76509831","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 : 2015-04-30DOI: 10.7156/NAJMS.2015.0802077
X. Ruan, Li Ma, Ngoc Vo, S. Chiravuri
Clinical practice guidelines are supposed to be evidence based and unbiased. High quality guidelines have the potential to promote the use of effective clinical services, minimize undesirable practice variation, and reduce the use of unnecessary services. Unfortunately, most of the guidelines produced thus far are flawed and untrustworthy. High quality guidelines may still have the intrinsic limitation of being too disease-focused rather than patient-focused, and lack applicability and validity when dealing with patients with multiple comorbidities or diseases. When applicable, clinical practice guidelines may serve as a relative guidance, rather than the absolute standard. Physicians need to be critical and vigilant when faced with a plethora of guidelines as following flawed practice guidelines may result in harm to patients. The use of clinical practice guidelines as the “standard of care” as well as for pay-for-performance based on guideline adherence is unjustified.
{"title":"Clinical Practice Guidelines: the More, the Better?","authors":"X. Ruan, Li Ma, Ngoc Vo, S. Chiravuri","doi":"10.7156/NAJMS.2015.0802077","DOIUrl":"https://doi.org/10.7156/NAJMS.2015.0802077","url":null,"abstract":"Clinical practice guidelines are supposed to be evidence based and unbiased. High quality guidelines have the potential to promote the use of effective clinical services, minimize undesirable practice variation, and reduce the use of unnecessary services. Unfortunately, most of the guidelines produced thus far are flawed and untrustworthy. High quality guidelines may still have the intrinsic limitation of being too disease-focused rather than patient-focused, and lack applicability and validity when dealing with patients with multiple comorbidities or diseases. When applicable, clinical practice guidelines may serve as a relative guidance, rather than the absolute standard. Physicians need to be critical and vigilant when faced with a plethora of guidelines as following flawed practice guidelines may result in harm to patients. The use of clinical practice guidelines as the “standard of care” as well as for pay-for-performance based on guideline adherence is unjustified.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"83 1","pages":"077"},"PeriodicalIF":0.0,"publicationDate":"2015-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86946975","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 : 2015-02-04DOI: 10.7156/NAJMS.2015.0801005
Juan Du, Qi Zhang, Michael Stallone
We used data from the Child Development Supplement (CDS) of the Panel Study of Income Dynamics in 2002 and 2007 to examine the relationship between the specific sport time spent during weekdays or weekends and American children’s body mass index (BMI). Time spent on out-of-school sports was recorded on a randomly selected weekday and a weekend day. Sports were further categorized as formal (organized sports such as sports games or lessons) or casual (any unorganized sports such as sports time in the neighborhood). Child’s height and weight were measured in person by interviewers. Body mass index was used to measure the child’s body weight status. We applied ordinary least square and fixed effects regressions to examine the cross-sectional and longitudinal relationships between out-of-school sports time and children’s body weight status. Children’s socio-demographics and parental socioeconomic status were controlled in the analyses. Double time spent on out-of-school sports during weekdays from 2002 to 2007 was associated with a reduction of BMI by 0.14 units, but the effects of time spent on out-of-school sports during weekends did not achieve statistical significance. For boys and girls, time spent on weekday casual (formal) sports was associated with a reduction of BMI by 0.18 and 0.17 units, respectively. Time spent on out-of-school sports during weekdays was more significant than during weekends in reducing BMI among US children.
{"title":"Out-of-School Sports Time and Children’s Body Weight Status: Evidence from a Longitudinal Survey","authors":"Juan Du, Qi Zhang, Michael Stallone","doi":"10.7156/NAJMS.2015.0801005","DOIUrl":"https://doi.org/10.7156/NAJMS.2015.0801005","url":null,"abstract":"We used data from the Child Development Supplement (CDS) of the Panel Study of Income Dynamics in 2002 and 2007 to examine the relationship between the specific sport time spent during weekdays or weekends and American children’s body mass index (BMI). Time spent on out-of-school sports was recorded on a randomly selected weekday and a weekend day. Sports were further categorized as formal (organized sports such as sports games or lessons) or casual (any unorganized sports such as sports time in the neighborhood). Child’s height and weight were measured in person by interviewers. Body mass index was used to measure the child’s body weight status. We applied ordinary least square and fixed effects regressions to examine the cross-sectional and longitudinal relationships between out-of-school sports time and children’s body weight status. Children’s socio-demographics and parental socioeconomic status were controlled in the analyses. Double time spent on out-of-school sports during weekdays from 2002 to 2007 was associated with a reduction of BMI by 0.14 units, but the effects of time spent on out-of-school sports during weekends did not achieve statistical significance. For boys and girls, time spent on weekday casual (formal) sports was associated with a reduction of BMI by 0.18 and 0.17 units, respectively. Time spent on out-of-school sports during weekdays was more significant than during weekends in reducing BMI among US children.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2015-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90741849","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 : 2014-12-25DOI: 10.7156/NAJMS.2014.0704189
Peining Li, Katherine Wilcox, Peter Hu
In the United States, genetic and genomic medicine is operated by physicians who specialize in clinical genetics and its related entities and laboratory directors who specialize in cytogenetics, molecular genetics and biochemical genetics. Allied health professions, including genetic technologists that perform genetic testing in diagnostic laboratories and genetics counselors that interpret genetic testing results to patients, play important and integral roles. To provide an overview on the structure of the medical genetics education system and its contribution to a well-trained workforce for genetic and genomic medicine, this report presents the requirements, curriculum and certifications from two representative programs for Bachelor’s and Master’s level genetic technologists and Master’s level counselors and outlines training resources for M.D. and Ph.D, genetics specialists. This tertiary education system has built up a professionally trained workforce of approximately 1,500 clinical geneticists, an equal amount of laboratory genetic specialists, as well as over 3,000 genetic counselors, 3,700 cytogenetic technologists and 2,500 molecular genetic technologists in the United States. This system is effective for undergraduate, graduate and medical students seeking a career in medical genetics and genomics. It also serves as a good model for genetic educators working on developing and improving medical genetics education in other countries.
{"title":"Tertiary Education System for Genetic Technologists, Counselors and Specialists","authors":"Peining Li, Katherine Wilcox, Peter Hu","doi":"10.7156/NAJMS.2014.0704189","DOIUrl":"https://doi.org/10.7156/NAJMS.2014.0704189","url":null,"abstract":"In the United States, genetic and genomic medicine is operated by physicians who specialize in clinical genetics and its related entities and laboratory directors who specialize in cytogenetics, molecular genetics and biochemical genetics. Allied health professions, including genetic technologists that perform genetic testing in diagnostic laboratories and genetics counselors that interpret genetic testing results to patients, play important and integral roles. To provide an overview on the structure of the medical genetics education system and its contribution to a well-trained workforce for genetic and genomic medicine, this report presents the requirements, curriculum and certifications from two representative programs for Bachelor’s and Master’s level genetic technologists and Master’s level counselors and outlines training resources for M.D. and Ph.D, genetics specialists. This tertiary education system has built up a professionally trained workforce of approximately 1,500 clinical geneticists, an equal amount of laboratory genetic specialists, as well as over 3,000 genetic counselors, 3,700 cytogenetic technologists and 2,500 molecular genetic technologists in the United States. This system is effective for undergraduate, graduate and medical students seeking a career in medical genetics and genomics. It also serves as a good model for genetic educators working on developing and improving medical genetics education in other countries.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"239 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78831954","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 : 2014-11-19DOI: 10.7156/NAJMS.2014.0704139
M. M. W. Mak, D. Ying, B. Chung
Whole-exome sequencing (WES) combines next generation sequencing (NGS) technology with capture methods to sequence all the coding regions of the genome. The application of WES has gained a lot of success worldwide in discovering new disease causing genes and in diagnosis. We reviewed some of the large collaborative efforts worldwide and summarized notable examples, observing an overall diagnostic yield of 16-30%. Locally in Hong Kong, there have been several applications of WES in research, as well as bioinformatics tools developed, and the field is continuing to grow. In our own department, we have applied this to pediatric rare diseases, by establishing our in-house research pipeline for WES, as well as utilizing core laboratory facilities in model animals and cell work for functional validation. We illustrate this approach using cases as examples. On the other hand, clinically, we are utilizing WES more as a diagnostic tool by analyzing selected pediatric cases via overseas laboratories. We see how this new tool is helping patients and families to obtain an answer for their condition, and subsequently helping them with their management and family planning. Finally, we discuss the challenges for WES in Hong Kong, and the future direction of the technology, with the potential to revolutionize clinical diagnosis and medical research. Key Words: gene, science, human resource, education, DNA INTRODUCTION Whole-exome sequencing (WES) combines next generation sequencing (NGS) technology with capture methods to sequence all the coding regions of the genome. The application of WES has gained a lot of success worldwide in discovering new disease causing genes and in diagnosis. We reviewed some of the large collaborative efforts worldwide and summarized notable examples, observing an overall diagnostic yield of 16-30%. Locally in Hong Kong, there have been several applications of WES in research, as well as bioinformatics tools developed, and the field is continuing to grow. In our own department, we have applied this to pediatric rare diseases, by establishing our in-house research pipeline for WES, as well as utilizing core laboratory facilities in model animals and cell work for functional validation. We illustrate this approach using cases as examples. On the other hand, clinically, we are utilizing WES more as a diagnostic tool by analyzing selected pediatric cases via overseas laboratories. We see how this new tool is helping patients and families to obtain an answer for their condition, and subsequently helping them with their management and family planning. Finally, we discuss the challenges for WES in Hong Kong, and the future direction of the technology, with the potential to revolutionize clinical diagnosis and medical research. Figure 1. We are good. Table 1. The data. dsffd dfgdg dfgdf gdfg dfgdfg dfgdf dfg gd fgdf dfgdf dfg gdfggfd gdfg dfg dfgd gdgdfg dfgfd dfg gdf Note: the test is published in a right format.
{"title":"The Application of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong","authors":"M. M. W. Mak, D. Ying, B. Chung","doi":"10.7156/NAJMS.2014.0704139","DOIUrl":"https://doi.org/10.7156/NAJMS.2014.0704139","url":null,"abstract":"Whole-exome sequencing (WES) combines next generation sequencing (NGS) technology with capture methods to sequence all the coding regions of the genome. The application of WES has gained a lot of success worldwide in discovering new disease causing genes and in diagnosis. We reviewed some of the large collaborative efforts worldwide and summarized notable examples, observing an overall diagnostic yield of 16-30%. Locally in Hong Kong, there have been several applications of WES in research, as well as bioinformatics tools developed, and the field is continuing to grow. In our own department, we have applied this to pediatric rare diseases, by establishing our in-house research pipeline for WES, as well as utilizing core laboratory facilities in model animals and cell work for functional validation. We illustrate this approach using cases as examples. On the other hand, clinically, we are utilizing WES more as a diagnostic tool by analyzing selected pediatric cases via overseas laboratories. We see how this new tool is helping patients and families to obtain an answer for their condition, and subsequently helping them with their management and family planning. Finally, we discuss the challenges for WES in Hong Kong, and the future direction of the technology, with the potential to revolutionize clinical diagnosis and medical research. Key Words: gene, science, human resource, education, DNA INTRODUCTION Whole-exome sequencing (WES) combines next generation sequencing (NGS) technology with capture methods to sequence all the coding regions of the genome. The application of WES has gained a lot of success worldwide in discovering new disease causing genes and in diagnosis. We reviewed some of the large collaborative efforts worldwide and summarized notable examples, observing an overall diagnostic yield of 16-30%. Locally in Hong Kong, there have been several applications of WES in research, as well as bioinformatics tools developed, and the field is continuing to grow. In our own department, we have applied this to pediatric rare diseases, by establishing our in-house research pipeline for WES, as well as utilizing core laboratory facilities in model animals and cell work for functional validation. We illustrate this approach using cases as examples. On the other hand, clinically, we are utilizing WES more as a diagnostic tool by analyzing selected pediatric cases via overseas laboratories. We see how this new tool is helping patients and families to obtain an answer for their condition, and subsequently helping them with their management and family planning. Finally, we discuss the challenges for WES in Hong Kong, and the future direction of the technology, with the potential to revolutionize clinical diagnosis and medical research. Figure 1. We are good. Table 1. The data. dsffd dfgdg dfgdf gdfg dfgdfg dfgdf dfg gd fgdf dfgdf dfg gdfggfd gdfg dfg dfgd gdgdfg dfgfd dfg gdf Note: the test is published in a right format.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"314 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75452123","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号