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A Quick Guide To Metabolic Disease Testing Interpretation

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A Quick Guide to Metabolic Disease Testing Interpretation

A Quick Guide to Metabolic Disease Testing Interpretation Book
Author : Patricia Jones,Khushbu Patel,Dinesh Rakheja
Publisher : Academic Press
Release : 2020-07-31
ISBN : 0128169273
Language : En, Es, Fr & De

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Book Description :

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM. Includes pathway diagrams and representative compound scans of important diagnostic compounds Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism Highlights brief descriptions of the etiology and clinical presentation of each presented disorder

Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases

Physician   s Guide to the Laboratory Diagnosis of Metabolic Diseases Book
Author : N. Blau,M. Duran,M.E. Blaskovics,K.M. Gibson
Publisher : Springer Science & Business Media
Release : 2012-12-06
ISBN : 364255878X
Language : En, Es, Fr & De

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Book Description :

This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.

Your Pregnancy Quick Guide Tests And Procedures

Your Pregnancy Quick Guide  Tests And Procedures Book
Author : Glade Curtis,Judith Schuler
Publisher : Da Capo Press
Release : 2009-04-30
ISBN : 0786728361
Language : En, Es, Fr & De

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Book Description :

Everything you need to know about both routine and special check-ups during your pregnancy

Quick Guide to Renal Disease Testing

Quick Guide to Renal Disease Testing Book
Author : George A. Fritsma
Publisher : Unknown
Release : 2012-05-01
ISBN : 9781594251252
Language : En, Es, Fr & De

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Book Description :

The time-honored routine urinalysis test is perhaps the humblest of laboratory assays, yet it provides a wealth of renal and metabolic information when appropriately performed and applied. Likewise, creatinine clearance, urea, glomerular filtration rate, and osmolality assays generate irreplaceable results. The Quick Guide to Renal Disease Testing assists physicians, nurses, physician assistants, nurse practitioners, clinical laboratory scientists, and office personnel to properly collect, manage, and analyze urine and to apply and perform renal function tests. The Guide is a useful teaching reference for fellows, residents, and students, and is a quick-access reference for practitioners who order, collect, perform, or interpret urinalysis and renal disease laboratory tests. The author is a member of the University of Alabama (UAB) Department of Pathology Division of Laboratory Medicine. The Guide arose from experiences in teaching clinical laboratory science students and practitioners, medical students, residents, fellows, and physicians at the UAB University Hospital. AACC Press and UAB make no warranties concerning contents of the Guide.

Drug Metabolism and Pharmacokinetics Quick Guide

Drug Metabolism and Pharmacokinetics Quick Guide Book
Author : Siamak Cyrus Khojasteh,Harvey Wong,Cornelis E.C.A. Hop
Publisher : Springer Science & Business Media
Release : 2011-04-07
ISBN : 1441956298
Language : En, Es, Fr & De

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Book Description :

Drug Metabolism and Pharmacokinetics Quick Guide covers a number of aspects of drug assessment at drug discovery and development stages, topics such as pharmacokinetics, absorption, metabolism, enzyme kinetics, drug transporters, drug interactions, drug-like properties, assays and in silico calculations. It covers key concepts, with useful tables on physiological parameters (eg. blood flow to organs in x-species, expression and localization of enzymes and transporters), chemical structure, nomenclature, and moieties leading to bioactivation (with examples). Overall it includes a number of key topics useful at the drug discovery stage, which would serve as a quick reference with several examples from the literature to illustrate the concept.

Inborn Errors of Metabolism

Inborn Errors of Metabolism Book
Author : Brendan Lee,Fernando Scaglia
Publisher : Oxford Monographs on Medical G
Release : 2014-10-13
ISBN : 0199797587
Language : En, Es, Fr & De

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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.

A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases Book
Author : Joe T. R. Clarke
Publisher : Cambridge University Press
Release : 2005-12-08
ISBN : 1139447181
Language : En, Es, Fr & De

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Book Description :

This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults Book
Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Release : 2016
ISBN : 0199972133
Language : En, Es, Fr & De

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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.

Quick Guide to Organic Acid Interpretation

Quick Guide to Organic Acid Interpretation Book
Author : Patricia M. Jones,Dinesh Rakheja
Publisher : AACC Press
Release : 2011
ISBN : 9781594251269
Language : En, Es, Fr & De

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Book Description :

Download Quick Guide to Organic Acid Interpretation book written by Patricia M. Jones,Dinesh Rakheja, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Physician s Guide to the Diagnosis Treatment and Follow up of Inherited Metabolic Diseases

Physician s Guide to the Diagnosis  Treatment  and Follow up of Inherited Metabolic Diseases Book
Author : Nenad Blau,Carlo Dionisi Vici,Carlos R. Ferreira,Christine Vianey-Saban,Clara D. M. van Karnebeek
Publisher : Springer Nature
Release : 2022
ISBN : 3030677273
Language : En, Es, Fr & De

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Book Description :

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physicians Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.

A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases Book
Author : Joe T. R. Clarke
Publisher : Cambridge University Press
Release : 2002-07-11
ISBN : 9780521890762
Language : En, Es, Fr & De

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Book Description :

This clinically organized, user-friendly, handbook is a guide to the recognition of inherited metabolic disease, and provides direction once diagnosis has been established. It is a well-illustrated text that presents biochemical and metabolic concepts in a clinically relevant context. The volume complements traditional textbooks which are organized biochemically, and serves as an entrance to the discipline, to help general physicians and advanced medical trainees to overcome the intimidation of dealing with metabolic problems. This new edition has been expanded to include substantially more information on mitochondrial diseases, new imaging techniques, and new techniques for screening and diagnosis.

Nutrition Management of Inherited Metabolic Diseases

Nutrition Management of Inherited Metabolic Diseases Book
Author : Laurie E. Bernstein,Fran Rohr,Sandy van Calcar
Publisher : Springer Nature
Release : 2022-07-16
ISBN : 3030945103
Language : En, Es, Fr & De

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Book Description :

This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and 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 also addressed. In addition, current medical management therapies is included.

Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults Book
Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Release : 2016-07-19
ISBN : 0199972141
Language : En, Es, Fr & De

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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 Animal Clinical Diagnosis by Laboratory Methods E Book

Small Animal Clinical Diagnosis by Laboratory Methods   E Book Book
Author : Michael D. Willard,Harold Tvedten
Publisher : Elsevier Health Sciences
Release : 2011-12-23
ISBN : 1437706584
Language : En, Es, Fr & De

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Book Description :

A quick guide to appropriately selecting and interpreting laboratory tests, Small Animal Clinical Diagnosis by Laboratory Methods, 5th Edition helps you utilize your in-house lab or your specialty reference lab to efficiently make accurate diagnoses without running a plethora of unnecessary and low-yield tests. It provides answers to commonly asked questions relating to laboratory tests, and solutions to frequently encountered problems in small animal diagnosis. For easy reference, information is provided by clinical presentation and abnormalities, and includes hundreds of tables, boxes, key points, and algorithms. This edition, now in full color, is updated with the latest advances in laboratory testing methods and diagnostic problem solving. Written by noted educators Dr. Michael Willard and Dr. Harold Tvedten, this book may be used as an on-the-spot guide to specific problems or conditions as well as a reference for more detailed research on difficult cases. Concise discussions address laboratory approaches to various disorders, possible conclusions from various test results, artifacts and errors in diagnoses, and interpretations leading to various diagnoses. Hundreds of tables, boxes, algorithms, and key points offer at-a-glance information including cautions, common pitfalls, and helpful "pearls," and lead to proper differential and clinical diagnostic decision making. Note boxes identify key considerations in correlating clinical signs with test data for accurate diagnoses, highlight safety precautions, and offer helpful tips for sample preparation and interpretation. Chapters on laboratory diagnostic toxicology and therapeutic drug monitoring help in handling potentially fatal poisonings and other special situations. Expert editors and contributors provide clinical knowledge and successful diagnostic problem-solving solutions. A practical appendix lists referral laboratories that may be contacted for certain diseases, and reference values with the normal or expected range for coagulation, hematology, and more. Updated coverage integrates the newest advances in testing methods and diagnostic problem solving. Full-color photos and schematic drawings are placed adjacent to related text, and accurately depict diagnostic features on microscopic slide preparations as well as test procedures and techniques.

Novel Strategies Targeting Obesity and Metabolic Diseases

Novel Strategies Targeting Obesity and Metabolic Diseases Book
Author : Xinran Ma,Dechun Feng,Yan Lu,Nuo Sun,Jiqiu Wang,Lingyan Xu
Publisher : Frontiers Media SA
Release : 2019-10-09
ISBN : 2889630412
Language : En, Es, Fr & De

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Book Description :

Download Novel Strategies Targeting Obesity and Metabolic Diseases book written by Xinran Ma,Dechun Feng,Yan Lu,Nuo Sun,Jiqiu Wang,Lingyan Xu, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

An Introduction to Human Molecular Genetics

An Introduction to Human Molecular Genetics Book
Author : Jack J. Pasternak
Publisher : John Wiley & Sons
Release : 2005-06-14
ISBN : 047171917X
Language : En, Es, Fr & De

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Book Description :

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Introduction to Critical Care Nursing E Book

Introduction to Critical Care Nursing E Book Book
Author : Mary Lou Sole,Deborah Goldenberg Klein,Marthe J. Moseley
Publisher : Elsevier Health Sciences
Release : 2020-07-04
ISBN : 0323759661
Language : En, Es, Fr & De

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Book Description :

Start here to master the concepts, technology, and procedures of critical care nursing! Introduction to Critical Care Nursing, 8th Edition prepares you to provide safe, effective, patient-centered care in a variety of high-acuity, progressive, and critical care settings. Evidence-based coverage includes realistic case studies and incorporates the latest advances in critical care. Disorders are conveniently organized by body system or special situation, and nursing management chapters include quick-reference nursing care plans. This clear, concise textbook will help you develop the knowledge and clinical reasoning skills needed for success in today's highly complex critical care environments. Critical Reasoning Activities are included throughout the text, promoting development of clinical nursing judgment to help you prepare for the Next-Generation NCLEX-RN® Exam. Emphasis on QSEN competencies enables you to gain the knowledge, skills, and attitudes needed to provide safe, high-quality health care in a variety of high acuity, progressive, and critical care settings. Evidence-Based Practice boxes illustrate how research evidence is used to address problems in patient care and includes nursing implications plus AACN’s new system for Levels of Evidence: A, B, C, D, E, and M. Universal Collaborative Plan of Care for the Critically Ill Patient addresses key aspects of collaborative/interprofessional care that apply to virtually all critically ill patients. Individual Plans of Care prepare you for clinical practice by describing patient problems, patient outcomes, and nursing assessments and interventions with rationales. Case studies challenge you to apply concepts to the real world, testing your clinical nursing judgment by asking questions about patient-specific cases with lab results. Clinical Alerts highlight potential problems and concerns to improve patient safety and clinical care. Laboratory Alerts emphasize the importance of laboratory test results to critical care nursing. Medication tables show the actions/usages, indications, dosages/routes, side effects, and nursing implications of medications commonly used in critical care settings. Coverage of cardiac assistive devices includes the ECMO device for extracorporeal life support, as well as other small, portable, bedside cardiac-assistive devices. Hemodynamic monitoring content now emphasizes the noninvasive methods of hemodynamic monitoring that are becoming more prominent. Coverage of infection control addresses the QSEN safety competency and helps provide patient protection against the growing threat of drug-resistant infections. Nearly 300 full-color photographs and drawings visually clarify key concepts and equipment for better understanding of today’s complex critical care environment.

Pediatric Hospital Medicine

Pediatric Hospital Medicine Book
Author : Ronald M. Perkin,Dale A. Newton,James D. Swift
Publisher : Lippincott Williams & Wilkins
Release : 2008
ISBN : 9780781770323
Language : En, Es, Fr & De

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Book Description :

Now in its Second Edition, this text focuses exclusively on the management of hospitalized pediatric patients from admission to discharge. It is an excellent resource for residency programs, hospitalist fellowships, and continuing education for physicians whose practice includes the management of hospitalized newborns and children. Because pediatric hospital care is provided by a wide variety of healthcare professionals and in many different hospital settings, this text provides a framework for unified management and effective and efficient care. This edition includes new sections on emergency medicine and psychiatric hospitalization and expanded coverage of management of children with complex and chronic conditions.

Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases

Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases Book
Author : Nenad Blau,Marinus Duran,Milan E. Blaskovics,K. M. Gibson
Publisher : Springer Science & Business Media
Release : 2003
ISBN : 9783540425427
Language : En, Es, Fr & De

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Book Description :

Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.