Screening And Treatments For The Mucopolysaccharidoses
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Screening And Treatments For The Mucopolysaccharidoses
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Author : Molly Stapleton-Bradley
language : en
Publisher:
Release Date : 2023
Screening And Treatments For The Mucopolysaccharidoses written by Molly Stapleton-Bradley and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023 with categories.
Current treatments for MPS disorders including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), are ineffective on treating skeletal disease symptoms. In MPS IVA, treatment of these skeletal symptoms is particularly important as there is no neurological decline and thus, skeletal abnormalities make up the primary symptoms of the disorder, even in the case of more severe patients.
Diagnosis And Therapies For Mucopolysaccharidoses
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Author : Francyne Kubaski
language : en
Publisher:
Release Date : 2017
Diagnosis And Therapies For Mucopolysaccharidoses written by Francyne Kubaski and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.
Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by progressive accumulation of glycosaminoglycans (GAGs) due to deficiency of specific lysosomal enzymes. MPS are classified according to the enzyme deficiency and accumulated GAGs. GAGs are negatively charged polysaccharides composed of repeating disaccharides and are important components of extracellular matrix, having a range of functions in multiple tissues. In MPS, GAGs accumulate in lysosomes, disrupting cellular homeostasis and leading to irreversible and progressive cell and tissue damage. All types of MPS are chronic and progressive with an extensive range of clinical manifestations such as skeletal dysplasia, corneal clouding, coarse facial features, joint rigidity or laxity, hepatosplenomegaly, neurodegeneration, and cardiac and respiratory dysfunction. The combined incidence of all MPSs is estimated as 1:25,000 live births. Most patients are asymptomatic at birth, so are not usually diagnosed until signs and symptoms arise in the first few years of life. Although no cure exists for MPS, some treatment approaches are available, including hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction therapy and chaperone therapy. Methods to evaluate treatment success are limited, and there is an overall consensus that treatments should begin before signs and symptoms appear. Current techniques for assessment of disease progression are invasive, and effort-dependent so cannot be used to evaluate young, wheelchair-bound and neurologically impaired patients. Thus, new diagnostic approaches (prenatal to newborn) and better techniques to evaluate disease progression are needed to improve outcomes for patients. ☐ In this study, I have established the efficacy of two non-invasive assessments for measuring disease progression in all MPS IV patients (Chapter 3) and developed a diagnostic approach using GAG analysis by liquid chromatography tandem mass spectrometry to understand natural history of MPSs (Chapter 4), and measure efficacy of different treatments (Chapter 5). ☐Skeletal abnormalities in some MPS IV patients precluded examination of bone mineral density (BMD) from conventional body sites, but it was discovered that BMD analysis could be performed on the lateral distal femur (LDF) of all MPS IV patients, regardless of physical or mental ability. Using BMD of LDF it was possible to determine the positive impact of ambulation in preserving BMD. Data from this study provides guidance to patients and their families on the importance of physical exercise in reducing the onset of disability. The subset of non-invasive pulmonary function tests demonstrated that restrictive and obstructive lung diseases are not always present in MPS IV, in which patients have small but functioning lungs. These tests will be able to inform clinicians of disease progression and should be valuable in evaluating the efficacy of treatment, allowing for a much wider range of patients to take part in clinical trials. ☐ The majority of established GAG detection protocols are based on colorimetric assays that are limited by false negative results and also cannot be applied to blood samples. The GAG detection protocol using tandem mass spectrometry is very specific and sensitive, discriminating most MPS patients from unaffected controls at all ages in a variety of samples (amniotic fluid, blood, cerebrospinal fluid, dried blood spots and urine). In my study, the focus was on samples from newborn patients, and results indicate that GAG measurements can be used for newborn screening. This will enable early diagnosis of MPS and thereby allow early treatment to significantly improve outcomes for MPS patients. ☐ I used this tandem mass spectrometry method in a study that showed that HSCT results in better outcomes for MPS II patients than ERT. GAG levels were lower in HSCT treated patients, who also had higher scores in an activity of daily living survey and fewer brain anomalies revealed by MRI than ERT treated patients. These new findings indicate that MPS II patients should be treated with HSCT at an early age and that, contrary to earlier reports, HSCT for these patients can have a positive impact on reducing neurological defects. ☐ The methodologies established here for GAG measurements and non-invasive techniques to assess disease progression have the potential to drastically improve the quality of life for MPS patients. The laboratory test enables both early diagnosis and evaluation of treatment efficacy and the non-invasive assessment protocols can be used to follow clinical efficacy. This highly innovative and state of the art study can be applied to the next generation of patient care in MPSs. The BMD and lung function assessments are also likely to be useful in the management of other diseases unrelated to MPS (skeletal dysplasias or neurological conditions), broadening the impact of this work. Early detection will also impact the choice of the most adequate treatment as well as reduce mortality, morbidity, and public health costs.
Mucopolysaccharidoses Update 2 Volume Set
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Author : Shunji Tomatsu
language : en
Publisher:
Release Date : 2018
Mucopolysaccharidoses Update 2 Volume Set written by Shunji Tomatsu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with Lysosomal storage diseases categories.
Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the clinical conditions progress if untreated, leading to developmental delay, systemic skeletal deformities, and early death.Other clinical features include coarse facial features, corneal clouding, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, heart valvular disease and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. Patients may need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy throughout their lifetime. Current measures to intervene in bone disease progression and CNS involvement are not perfect and palliative, and improved therapies are urgently required and are being proposed.Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzymes to the brain and bones, especially avascular cartilage, to prevent or ameliorate the devastating neurological defects and skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion and damage, since the severity of CNS involvement and skeletal dysplasia is associated with the level of activity in a patient's daily life.For the maximum benefit of available therapies, early detection and intervention are critical. Newborn screening and diagnostic systems have been developed by using tandem mass spectrometry. We review the history of diagnosis and newborn screening as well. Overall, this book illustrates a to-date overview of the pathogenesis, diagnosis, biomarkers, screening, and updated therapies as well as their impact on MPS, including ERT, HSCT, gene therapy, and anti-inflammatory drugs. History and activities of MPS societies are also described. It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.
Mucopolysaccharidoses Update 2 Volume Set
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Author : Shunji Tomatsu
language : en
Publisher:
Release Date :
Mucopolysaccharidoses Update 2 Volume Set written by Shunji Tomatsu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on with Medical categories.
Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the clinical conditions progress if untreated, leading to developmental delay, systemic skeletal deformities, and early death.Other clinical features include coarse facial features, corneal clouding, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, heart valvular disease and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. Patients may need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy throughout their lifetime. Current measures to intervene in bone disease progression and CNS involvement are not perfect and palliative, and improved therapies are urgently required and are being proposed.Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzymes to the brain and bones, especially avascular cartilage, to prevent or ameliorate the devastating neurological defects and skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion and damage, since the severity of CNS involvement and skeletal dysplasia is associated with the level of activity in a patient's daily life.For the maximum benefit of available therapies, early detection and intervention are critical. Newborn screening and diagnostic systems have been developed by using tandem mass spectrometry. We review the history of diagnosis and newborn screening as well. Overall, this book illustrates a to-date overview of the pathogenesis, diagnosis, biomarkers, screening, and updated therapies as well as their impact on MPS, including ERT, HSCT, gene therapy, and anti-inflammatory drugs. History and activities of MPS societies are also described. It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.
Progressive Brain Disorders In Childhood
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Author : Juan M. Pascual
language : en
Publisher: Cambridge University Press
Release Date : 2017-04-20
Progressive Brain Disorders In Childhood written by Juan M. Pascual and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-20 with Medical categories.
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
The Metabolic Molecular Bases Of Inherited Disease
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Author : Charles R. Scriver
language : en
Publisher: New York ; Montreal : McGraw-Hill
Release Date : 2001
The Metabolic Molecular Bases Of Inherited Disease written by Charles R. Scriver and has been published by New York ; Montreal : McGraw-Hill this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Genetic disorders categories.
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
The Mucopolysaccharidoses
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Author :
language : en
Publisher:
Release Date : 2003
The Mucopolysaccharidoses written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Lysosomal storage diseases categories.
Nord Guide To Rare Disorders
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Author : National Organization for Rare Disorders
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2003
Nord Guide To Rare Disorders written by National Organization for Rare Disorders and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Medical categories.
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Pediatric Ophthalmology And Strabismus
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Author : Mitchell B. Strominger
language : en
Publisher: Elsevier Health Sciences
Release Date : 2008-01-01
Pediatric Ophthalmology And Strabismus written by Mitchell B. Strominger and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-01-01 with Medical categories.
This title in the Rapid Diagnosis in Ophthalmology Series presents a wealth of full-color images - along with differential diagnoses - in side-by-side page layouts to assist you in identifying a full range of disorders. A templated format expedites access to the guidance you need to diagnose the most common conditions related to pediatric ophthalmology and strabismus - from simple to complex - encountered in practice. Coverage of cutting-edge topics including phacomatosis, congenital ocular anomalies, TORCH syndrome, and more, help you keep your knowledge up to date. Hundreds of full-color images present onditions as they present in real life. Common diagnostic pitfalls discuss what to look out for when making a difficult diagnosis. A templated, color-coded layout and differential diagnosis boxes for each condition help you make quick, accurate clinical decisions. A focus on the most common conditions encountered in practice allows you to efficiently formulate treatment plans and referrals. SERIES EDITORS: Jay S. Duker, MD, Director, New England Eye Center, Vitreoretinal Diseases and Surgery Service; Director, Pediatric Retinal Referral Center, Uveitis & Immunology Service; Professor and Chair of Ophthalmology, Tufts University School of Medicine, Boston, MA and Marian S. Macsai, MD, Chief, Division of Ophthalmology, Evanston Northwestern Healthcare; Professor and Vice-Chair of the Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, MI