Download or read book What Is Progeria a k a Hutchinson Gilford Progeria Syndrome HGPS written by Dr. Hakim. K. Saboowala and published by Dr.Hakim Saboowala. This book was released on with total page 47 pages. Available in PDF, EPUB and Kindle. Book excerpt: What Is Progeria a.k.a. Hutchinson-Gilford Progeria Syndrome (HGPS)?  The term basically is meant as ‘prematurely old’ taken from the Greek meanings. An uncommon deadly genetic situation symbolized by the presence of rapid maturation in infants is called as the Hutchinson–Gilford Progeria Syndrome. The selective cause behind this syndrome is usually a mutation in a gene called LMNA. The product of this LMNA gene which is a protein i.e. Lamin-A is considered to be responsible for anatomical framing which clasps the nuclei of the cell, well organized and together. But the recent investigations prove a deformity in the protein i.e. Lamin-A that leads to the non-stability of the nuclei an thus gives rise to the deadly situation of untimely ageing in the children popularly known as Progeria. An effort has been made in this Booklet to review the investigations which provided pivotal information about the therapeutic researches related to the syndrome, the mutational causes and the basic information including the major and minor symptoms generally shown by the patients affected with Hutchinson–Gilford Progeria Syndrome along with plenty of ILLUSTRATIONS for better understanding this quaint entity! Moreover the researches on many possible curative drugs related to the disease which can help the patients in leading a normal life with lesser side effects and symptoms have also been discussed. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

Download or read book Hutchinson Gilford Progeria Syndrome written by James N. Parker and published by Icon Health Publications. This book was released on 2007 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to Hutchinson-Gilford progeria syndrome, from the essentials to the most advanced areas of research. Special attention has been paid to present the genetic basis and pattern of inheritance of Hutchinson-Gilford progeria syndrome. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on Hutchinson-Gilford progeria syndrome. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to Hutchinson-Gilford progeria syndrome, these are noted in the text.

Download or read book The Hutchinson Gilford Progeria Syndrome written by Franklin L. DeBusk and published by . This book was released on 1972 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Hutchinson Gilford Progeria Syndrome Frequently Asked Questions written by and published by . This book was released on 2003 with total page 4 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Molecular and Cytogenetic Analysis of Premature Ageing Disease Hutchinson Gilford Progeria Syndrome HGPS written by Anna L. Seager and published by . This book was released on 2005 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Hutchinson Gilford Progeria Syndrome Vascular Pathology written by Danielle M. Eschedor and published by . This book was released on 2017 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hutchinson-Gilford Progeria is an accelerated aging disorder caused by a de novo point mutation in the LMNA gene which codes for an intermediate filament of the nuclear lamina called lamin A. The point mutation at c.1824C>T causes a 50-amino-acid deletion that removes the binding site for Zmpste24, a metalloprotease responsible for defarnesylating prelamin A and producing mature lamin A. Without the ability to be defarnesylated, the mutated protein, called progerin, is more lipophilic and has a myriad of cytotoxic effects. As cardiovascular disease is the most common cause of death in HGPS patients, it is important for both healthcare professionals and the scientific community to understand how the cellular pathologies induced by progerin contribute to vascular pathology. This review identified four categories of vascular pathology and explains the cellular pathologies that contribute to them. These categories are vascular smooth muscle cell (VSMC) loss and lack of replenishment, vascular calcification, atherosclerosis, and contractility. It also addresses relevant treatment options for patients with the disease.

Download or read book Molecular Studies of Hutchinson Gilford Progeria Syndrome written by and published by . This book was released on 2009 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book The Genetic Mechanism that Links Hutchinson Gilford Progeria Syndrome to Physiological Aging written by and published by . This book was released on 2014 with total page 57 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genetic Disorders written by Maria Puiu and published by IntechOpen. This book was released on 2013-01-09 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.

Download or read book Epigenetic Deregulation of Lamina associated Domains in Hutchinson Gilford Progeria Syndrome written by Florian Köhler and published by . This book was released on 2019* with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Molecular and Cytogenetic Analysis of Premature Ageing Disease Hutchinson Gilford Progeria Syndrome HGPS written by Anna L. Seager and published by . This book was released on 2005 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Cardiovascular Calcification and Bone Mineralization written by Elena Aikawa and published by Springer Nature. This book was released on 2020-07-01 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book covers the basic science and clinical aspects of cardiovascular calcification and bone mineralization. Cardiovascular calcification is the leading predictor of cardiovascular morbidity and mortality, with a predictive value more significant than blood lipid levels. The presence of calcific mineral in cardiovascular tissues alters biomechanical performance, increasing workload on the heart and potentiating atherosclerotic plaque rupture and subsequent heart attack and stroke. This book examines the role of calcification in cardiovascular disease covering topics such as calcification in the atherosclerotic plaques and aortic valves arteries and valves, aortic valve replacement, peripheral artery disease, imaging of early calcification and target discovery. In addition, various forms of ectopic calcification as well as mechanisms of bone mineralization are discussed. Cardiovascular Calcification and Bone Mineralization is an essential resource for clinicians, researchers, and other medical professionals in cardiology, pathology, and biomedical engineering.

Download or read book Survival of the Sickest LP written by Dr. Sharon Moalem and published by Harper Collins. This book was released on 2007-05-22 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: Was diabetes evolution's response to the last Ice Age? Did a deadly genetic disease help our ancestors survive the bubonic plagues of Europe? Will a visit to the tanning salon help lower your cholesterol? Why do we age? Why are some people immune to HIV? Can your genes be turned on—or off? Survival of the Sickest is fi lled with fascinating insights and cutting-edge research, presented in a way that is both accessible and utterly absorbing. This is a book about the interconnectedness of all life on earth—and especially what that means for us. Read it. You're already living it.

Download or read book Toxicoepigenetics written by Shaun D. McCullough and published by Academic Press. This book was released on 2018-11-02 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt: Toxicoepigenetics: Core Principles and Applications examines the core aspects of epigenetics, including chromatin biology, DNA methylation, and non-coding RNA, as well as fundamental techniques and considerations for studying each of these mechanisms of epigenetic regulation. Although its integration into the field of toxicology is in its infancy, epigenetics have taken center stage in the study of diseases such as cancer, diabetes, and neurodegeneration. Increasing the presence of epigenetics in toxicological research allows for a more in-depth understanding of important aspects of toxicology such as the role of the environment and lifestyle influencing the individual susceptibility to these effects and the trans-generational transmission of these health effects and susceptibilities. Methods chapters are included to help improve efficacy and efficiency of protocols in both the laboratory and the classroom. Toxicoepigenetics: Core Principles and Applications is an essential book for researchers and academics using epigenetics in toxicology research and study. Introduces the fundamental principles and practices for understanding the role of the epigenome in toxicology Presents the foundation of epigenetics for toxicologists with a broad range of backgrounds Discusses the incorporation of epigenetics and epigenomics into current toxicological studies and interpretation of epigenetic data in toxicological applications

Download or read book Dorland s Dictionary of Medical Acronyms and Abbreviations E Book written by Dorland and published by Elsevier Health Sciences. This book was released on 2015-07-24 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical acronyms and abbreviations offer convenience, but those countless shortcuts can often be confusing. Now a part of the popular Dorland’s suite of products, this reference features thousands of terms from across various medical specialties. Its alphabetical arrangement makes for quick reference, and expanded coverage of symbols ensures they are easier to find. Effective communication plays an important role in all medical settings, so turn to this trusted volume for nearly any medical abbreviation you might encounter. Symbols section makes it easier to locate unusual or seldom-used symbols. Convenient alphabetical format allows you to find the entry you need more intuitively. More than 90,000 entries and definitions. Many new and updated entries including terminology in expanding specialties, such as Nursing; Physical, Occupational, and Speech Therapies; Transcription and Coding; Computer and Technical Fields. New section on abbreviations to avoid, including Joint Commission abbreviations that are not to be used. Incorporates updates suggested by the Institute for Safe Medication Practices (ISMP).

Download or read book Progress in Heritable Soft Connective Tissue Diseases written by Jaroslava Halper and published by Springer Science & Business Media. This book was released on 2014-01-18 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.

Download or read book Molecular Basis of Resilience written by Patrick L. Iversen and published by Springer. This book was released on 2019-01-05 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book illuminates mechanisms of resilience. Threats and defense systems lead to adaptive changes in gene expression. Environmental conditions may dampen adaptive responses at the level of RNA expression. The first seven chapters elaborate threats to human health. Human populations spontaneously invade niche boundaries exposing us to threats that drive the resilience process. Emerging RNA viruses are a significant threat to human health. Antiviral drugs are reviewed and how viral genomes respond to the environment driving genome sequence plasticity. Limitations in predicting the human outcome are described in “nonlinear anomalies.” An example includes medical countermeasures for Ebola and Marburg viruses under the “Animal Rule.” Bacterial infections and a review of antibacterial drugs and bacterial resilience mediated by horizontal gene transfer follow. Chapter 6 shifts focus to cancer and discovery of novel therapeutics for leukemia. The spontaneous resolution of AML in children with Down syndrome highlights human resilience. Chapter 7 explores chemicals in the environment. Examples of chemical carcinogenesis illustrate how chemicals disrupt genomes. Historic research ignored RNA damage from chemically induced nucleic acid damage. The emergence of important forms of RNA and their possible role in resilience is proposed. Chapters 8-10 discuss threat recognition and defense systems responding to improve resilience. Chapter 8 describes the immune response as a threat recognition system and response via diverse RNA expression. Oligonucleotides designed to suppress specific RNA to manipulate the immune response including exon-skipping strategies are described. Threat recognition and response by the cytochrome P450 enzymes parallels immune responses. The author proposes metabolic clearance of small molecules is a companion to the immune system. Chapter 10 highlights RNA diversity expressed from a single gene. Molecular Resilience lists paths to RNA transcriptome plasticity forms the molecular basis for resilience. Chapter 11 is an account of ExonDys 51, an approved drug for the treatment of Duchenne muscular dystrophy. Chapter 12 addresses the question “what informs molecular mechanisms of resilience?” that drives the limits to adaptation and boundaries for molecular resilience. He speculates that radical oxygen, epigenetic modifications, and ligands to nuclear hormone receptors play critical roles in regulating molecular resilience.