Author: David J. VancePublisher:
ISBN: 9780987146960
Category : Cystathionine beta-synthase
Languages : en
Pages : 171
Book Description
Treatment of Homocystinuria Due to Cystathionine Beta Synthase Deficiency
Author: David J. VancePublisher:
ISBN: 9780987146960
Category : Cystathionine beta-synthase
Languages : en
Pages : 171
Book Description
Consults in Obstetric Anesthesiology
Author: Suzanne K. W. MankowitzPublisher: Springer
ISBN: 3319596802
Category : Medical
Languages : en
Pages : 628
Book Description
This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.
The Metabolic & Molecular Bases of Inherited Disease
Author: Charles R. ScriverPublisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Inherited Metabolic Disease in Adults
Author: Carla E. M. HollakPublisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
Book Description
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Small Molecule Therapy for Genetic Disease
Author: Jess G. ThoenePublisher: Cambridge University Press
ISBN: 1139490761
Category : Medical
Languages : en
Pages :
Book Description
Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.
Homocysteine and Vascular Disease
Author: K. RobinsonPublisher: Springer Science & Business Media
ISBN: 9780792362487
Category : Medical
Languages : en
Pages : 480
Book Description
This state-of-the-art review provides an in-depth and critical summary of homocysteine from its molecular basis to clinical relevance and current clinical trials of folic acid and vitamin B6. Written by leading workers in the field, the book provides an authoritative, comprehensive and thoroughly up-to-date overview for scientists and clinicians and any others engaged in the field. It will also be useful to anyone involved in managing vascular patients or cardiac risk factors, as well as biochemists, pharmacologists, general physicians, cardiologists and clinical and basic researchers with an interest in preventive medicine.
Inherited Metabolic Diseases
Author: Georg F. HoffmannPublisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
Book Description
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Nutrition Management of Inherited Metabolic Diseases
Author: Laurie E. BernsteinPublisher: Springer
ISBN: 3319146211
Category : Medical
Languages : en
Pages : 363
Book Description
This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
MTHFR Polymorphisms and Disease
Author: Per Magne UelandPublisher: CRC Press
ISBN: 1498713882
Category : Medical
Languages : en
Pages : 225
Book Description
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in homocystinuria. With the identification of additional patients with severe MTHFR deficiency, the heterogeneity of this disorder became manifest. This book covers many of the complex traits that have been reported to be influenced by the well-characterized 677C→T variant; there is less information on the 1298A→C variant, but it is discussed where appropriate. It is quite surprising, and unique, that a single variant should influence such a wide variety of clinical conditions.
Inborn Errors of Metabolism
Author: Brendan LeePublisher: Oxford Monographs on Medical G
ISBN: 0199797587
Category : Medical
Languages : en
Pages : 393
Book Description
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.