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Author: Charles Shaw-Smith
Publisher:
Published: 2014-06-15
Total Pages:
ISBN-13: 9781615043804
DOWNLOAD EBOOKDownload or read book Molecular Basis of Developmental Anomalies of the GI Tract written by Charles Shaw-Smith and published by . This book was released on 2014-06-15 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author: Charles Shaw-Smith
Publisher: Biota Publishing
Published: 2015-12-01
Total Pages: 127
ISBN-13: 1615047190
DOWNLOAD EBOOKCurrent knowledge of the etiology of congenital malformations of the human gastrointestinal tract is covered in this book, prefaced by some introductory notes on embryological development. Malformations involving the esophagus, stomach, small and large intestine, anus and rectum, pancreas, and hepato-billiary system are covered. There is a focus on covering those malformations for which a molecular genetic etiology is understood, but other causations, including environmental exposures, twinning, and unknown etiology are also included. For completeness, some disorders are included which are not, strictly, malformations, or which do not, strictly, involve the gastrointestinal tract. Such disorders include Hirschsprung disease, congenital diaphragmatic hernia, omphalocele, and gastroschisis. Suggested approaches to clinical evaluation of individuals with gastrointestinal malformations are included.
Download or read book Molecular Basis of Developmental Anomalies of the Human Gastrointestinal Tract written by Charles Shaw-Smith and published by Biota Publishing. This book was released on 2015-12-01 with total page 127 pages. Available in PDF, EPUB and Kindle. Book excerpt: Current knowledge of the etiology of congenital malformations of the human gastrointestinal tract is covered in this book, prefaced by some introductory notes on embryological development. Malformations involving the esophagus, stomach, small and large intestine, anus and rectum, pancreas, and hepato-billiary system are covered. There is a focus on covering those malformations for which a molecular genetic etiology is understood, but other causations, including environmental exposures, twinning, and unknown etiology are also included. For completeness, some disorders are included which are not, strictly, malformations, or which do not, strictly, involve the gastrointestinal tract. Such disorders include Hirschsprung disease, congenital diaphragmatic hernia, omphalocele, and gastroschisis. Suggested approaches to clinical evaluation of individuals with gastrointestinal malformations are included.
Author: Dhavendra Kumar
Publisher: Springer
Published: 2018-01-17
Total Pages: 920
ISBN-13: 3319661140
DOWNLOAD EBOOKThis title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Download or read book Cardiovascular Genetics and Genomics written by Dhavendra Kumar and published by Springer. This book was released on 2018-01-17 with total page 920 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Author: Yoshiji Yamada
Publisher: Biota Publishing
Published: 2012-04-01
Total Pages: 94
ISBN-13: 1615043713
DOWNLOAD EBOOKStroke is an important clinical problem because of its large contribution to mortality. The main causal and treatable risk factors for stroke include hypertension, diabetes mellitus, dyslipidemia, and smoking. In addition to these risk factors, recent studies have shown the importance of genetic factors and interactions between multiple genes and environmental factors. Genetic linkage analyses of families and sib-pairs as well as candidate gene association studies have implicated several loci and many candidate genes in predisposition to ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage. Recent genome-wide association studies identified various loci and genes that confer susceptibility to ischemic stroke or intracranial aneurysm. Such studies may provide insight into the function of implicated genes as well as into the role of genetic factors in the development of ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage.
Download or read book Molecular Genetics of Stroke written by Yoshiji Yamada and published by Biota Publishing. This book was released on 2012-04-01 with total page 94 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stroke is an important clinical problem because of its large contribution to mortality. The main causal and treatable risk factors for stroke include hypertension, diabetes mellitus, dyslipidemia, and smoking. In addition to these risk factors, recent studies have shown the importance of genetic factors and interactions between multiple genes and environmental factors. Genetic linkage analyses of families and sib-pairs as well as candidate gene association studies have implicated several loci and many candidate genes in predisposition to ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage. Recent genome-wide association studies identified various loci and genes that confer susceptibility to ischemic stroke or intracranial aneurysm. Such studies may provide insight into the function of implicated genes as well as into the role of genetic factors in the development of ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage.
Author: Meena Upadhyaya
Publisher: Biota Publishing
Published: 2014-02-01
Total Pages: 81
ISBN-13: 1615046453
DOWNLOAD EBOOKNeurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.
Download or read book The Molecular Biology of Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Biota Publishing. This book was released on 2014-02-01 with total page 81 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.
Author: Johnathan Cooper-Knock
Publisher: Biota Publishing
Published: 2013-09-01
Total Pages: 62
ISBN-13: 1615044299
DOWNLOAD EBOOKIn this e-book, motor neuron disease (MND) shall refer to amyotrophic lateral sclerosis (ALS), the most common neurodegenerative disorder affecting both the upper and lower motor neurons. With the discovery of C9ORF72 expansions in approximately 10% of all MND cases, in certain populations, we stand at the brink of a new era of MND research and hopefully treatment facilitated by the ability to associate a relatively large group of patients with a similar disease mechanism. This review will summarise both current clinical management of MND and our present understanding of the molecular pathogenesis of MND. Study of C9ORF72-MND has the potential to rapidly advance both of these aspects in the coming years.
Download or read book Clinical and Molecular Aspects of Motor Neuron Disease written by Johnathan Cooper-Knock and published by Biota Publishing. This book was released on 2013-09-01 with total page 62 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this e-book, motor neuron disease (MND) shall refer to amyotrophic lateral sclerosis (ALS), the most common neurodegenerative disorder affecting both the upper and lower motor neurons. With the discovery of C9ORF72 expansions in approximately 10% of all MND cases, in certain populations, we stand at the brink of a new era of MND research and hopefully treatment facilitated by the ability to associate a relatively large group of patients with a similar disease mechanism. This review will summarise both current clinical management of MND and our present understanding of the molecular pathogenesis of MND. Study of C9ORF72-MND has the potential to rapidly advance both of these aspects in the coming years.
Download or read book The Enteric Nervous System written by John Barton Furness and published by . This book was released on 1987 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author: Dhavendra Kumar
Publisher: Oxford Monographs on Medical G
Published: 2014-10-15
Total Pages: 853
ISBN-13: 019989602X
DOWNLOAD EBOOKPreceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Author: Robert D. Odze
Publisher: Elsevier Health Sciences
Published: 2014-09-11
Total Pages: 1893
ISBN-13: 1455733245
DOWNLOAD EBOOKThe updated edition of Surgical Pathology of the GI Tract, Liver, Biliary Tract and Pancreas is designed to act as a one-stop medical reference book for the entire gastrointestinal system, providing exhaustive coverage and equipping you with all of the necessary tools to make a comprehensive diagnostic workup. You'll access thousands of high-quality illustrations and eight brand-new chapters, so you can recognize and diagnose any pathological slide you encounter. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Make a comprehensive diagnostic workup with data from ancillary techniques and molecular findings whenever appropriate. Effectively grasp complex topics and streamline decision-making by using extensive tables, graphs, and flowcharts. Avoid diagnostic errors thanks to practical advice on pitfalls in differential diagnosis. Navigate the book quickly with a "road map" featured at the beginning of each chapter. Provide the clinician with the most accurate and up-to-date diagnostic and prognostic indicators, including key molecular aspects of tumor pathology, with access to the latest classification and staging systems available. Evaluate diagnostically challenging cases using diagnostic algorithms. Stay abreast of the latest advances with eight new chapters: Autoimmune Disorders of the GI Tract; Drug Induced Disorders of the GI Tract; Molecular Diagnostics of Tubal Gut Neoplasms; Molecular Diagnostics of the Gallbladder, Extrahepatic Biliary Tree, and Pancreatic Tumors; Tumors of the Ampulla; Molecular Diagnostics of Hepatocellular Neoplasms; Approach to the Liver Biopsy, and Approach to Gastrointestinal Tract Biopsies. Remain at the forefront of your field with coverage of new molecular and genetic markers in GI neoplasms; updated knowledge on liver and biliary tree pathology; and expanded information on tumors of the ampulla. Recognize and diagnose any tissue sample under the microscope with help from over 3000 high-quality color illustrations.
Download or read book Odze and Goldblum Surgical Pathology of the GI Tract, Liver, Biliary Tract and Pancreas E-Book written by Robert D. Odze and published by Elsevier Health Sciences. This book was released on 2014-09-11 with total page 1893 pages. Available in PDF, EPUB and Kindle. Book excerpt: The updated edition of Surgical Pathology of the GI Tract, Liver, Biliary Tract and Pancreas is designed to act as a one-stop medical reference book for the entire gastrointestinal system, providing exhaustive coverage and equipping you with all of the necessary tools to make a comprehensive diagnostic workup. You'll access thousands of high-quality illustrations and eight brand-new chapters, so you can recognize and diagnose any pathological slide you encounter. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Make a comprehensive diagnostic workup with data from ancillary techniques and molecular findings whenever appropriate. Effectively grasp complex topics and streamline decision-making by using extensive tables, graphs, and flowcharts. Avoid diagnostic errors thanks to practical advice on pitfalls in differential diagnosis. Navigate the book quickly with a "road map" featured at the beginning of each chapter. Provide the clinician with the most accurate and up-to-date diagnostic and prognostic indicators, including key molecular aspects of tumor pathology, with access to the latest classification and staging systems available. Evaluate diagnostically challenging cases using diagnostic algorithms. Stay abreast of the latest advances with eight new chapters: Autoimmune Disorders of the GI Tract; Drug Induced Disorders of the GI Tract; Molecular Diagnostics of Tubal Gut Neoplasms; Molecular Diagnostics of the Gallbladder, Extrahepatic Biliary Tree, and Pancreatic Tumors; Tumors of the Ampulla; Molecular Diagnostics of Hepatocellular Neoplasms; Approach to the Liver Biopsy, and Approach to Gastrointestinal Tract Biopsies. Remain at the forefront of your field with coverage of new molecular and genetic markers in GI neoplasms; updated knowledge on liver and biliary tree pathology; and expanded information on tumors of the ampulla. Recognize and diagnose any tissue sample under the microscope with help from over 3000 high-quality color illustrations.
Author: Brian D. Gulbransen
Publisher: Biota Publishing
Published: 2014-07-01
Total Pages: 72
ISBN-13: 1615046615
DOWNLOAD EBOOKThe enteric nervous system (ENS) is a complex neural network embedded in the gut wall that orchestrates the reflex behaviors of the intestine. The ENS is often referred to as the “little brain” in the gut because the ENS is more similar in size, complexity and autonomy to the central nervous system (CNS) than other components of the autonomic nervous system. Like the brain, the ENS is composed of neurons that are surrounded by glial cells. Enteric glia are a unique type of peripheral glia that are similar to astrocytes of the CNS. Yet enteric glial cells also differ from astrocytes in many important ways. The roles of enteric glial cell populations in the gut are beginning to come to light and recent evidence implicates enteric glia in almost every aspect of gastrointestinal physiology and pathophysiology. However, elucidating the exact mechanisms by which enteric glia influence gastrointestinal physiology and identifying how those roles are altered during gastrointestinal pathophysiology remain areas of intense research. The purpose of this e-book is to provide an introduction to enteric glial cells and to act as a resource for ongoing studies on this fascinating population of glia. Table of Contents: Introduction / A Historical Perspective on Enteric Glia / Enteric Glia: The Astroglia of the Gut / Molecular Composition of Enteric Glia / Development of Enteric Glia / Functional Roles of Enteric Glia / Enteric Glia and Disease Processes in the Gut / Concluding Remarks / References / Author Biography
Download or read book Enteric Glia written by Brian D. Gulbransen and published by Biota Publishing. This book was released on 2014-07-01 with total page 72 pages. Available in PDF, EPUB and Kindle. Book excerpt: The enteric nervous system (ENS) is a complex neural network embedded in the gut wall that orchestrates the reflex behaviors of the intestine. The ENS is often referred to as the “little brain” in the gut because the ENS is more similar in size, complexity and autonomy to the central nervous system (CNS) than other components of the autonomic nervous system. Like the brain, the ENS is composed of neurons that are surrounded by glial cells. Enteric glia are a unique type of peripheral glia that are similar to astrocytes of the CNS. Yet enteric glial cells also differ from astrocytes in many important ways. The roles of enteric glial cell populations in the gut are beginning to come to light and recent evidence implicates enteric glia in almost every aspect of gastrointestinal physiology and pathophysiology. However, elucidating the exact mechanisms by which enteric glia influence gastrointestinal physiology and identifying how those roles are altered during gastrointestinal pathophysiology remain areas of intense research. The purpose of this e-book is to provide an introduction to enteric glial cells and to act as a resource for ongoing studies on this fascinating population of glia. Table of Contents: Introduction / A Historical Perspective on Enteric Glia / Enteric Glia: The Astroglia of the Gut / Molecular Composition of Enteric Glia / Development of Enteric Glia / Functional Roles of Enteric Glia / Enteric Glia and Disease Processes in the Gut / Concluding Remarks / References / Author Biography
