Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America PDF Download
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Author: Vernon Reid Sutton
Publisher: Elsevier Health Sciences
ISBN: 0323584128
Category : Medical
Languages : en
Pages :
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Book Description
The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review articles on the following topics: Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management; Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism; Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders; Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.
Author: Vernon Reid Sutton
Publisher: Elsevier Health Sciences
ISBN: 0323584128
Category : Medical
Languages : en
Pages :
Get Book Here
Book Description
The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review articles on the following topics: Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management; Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism; Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders; Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.
Author: Anne Slavotinek
Publisher: Elsevier Health Sciences
ISBN: 032393904X
Category : Medical
Languages : en
Pages : 211
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Book Description
In this issue, guest editors bring their considerable expertise to this important topic.Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Author: Suzanne Li
Publisher: Elsevier Health Sciences
ISBN: 0323641709
Category : Medical
Languages : en
Pages : 281
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Book Description
With consultation of Dr. Bonita Stanton, Consulting Editor, Drs. Li and Higgins have secured experts in the field to provide clinical reviews on the latest updates in diagnosing and treating children with rheumatologic disease. The issue contains articles on the following topics: Approach to the Child with Joint Pain; What goes wrong that Leads to Rheumatic Disease; Juvenile Idiopathic Arthritis; Spondyloarthropathies; Systemic Arthritis; Systemic Lupus Erythematosus; Sjogren’s and Mixed CTD in Children and Adolescents; Idiopathic Inflammatory Myopathies in Children; Juvenile Scleroderma; Chronic Non-Infectious Osteomyelitis and Chronic Recurrent Multifocal Osteomyelitis; Non-Inflammatory Musculoskeletal Pain in Children or Pediatric Pain Syndromes; Complications of Immunosuppressive and Biologic Response Modifier Therapy; General Health Concerns and Fitness for the Child with Rheumatic Disease; Transition of Rheumatic Disease Care: Pediatric to Adult Care; and Advocacy for Children with Rheumatic Diseases. Readers will be able to utilize the information in the issue to improve outcomes in patients with rheumatologic disease.
Author: Jacob V. Aranda
Publisher: Elsevier Health Sciences
ISBN: 0323552919
Category : Medical
Languages : en
Pages : 273
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Book Description
Dr. Aranda is an top expert in the area of pharmacology in the pediatric population. His issue has knowledgeable authors presenting clinical reviews on a wide variety of topics, from "hot areas " of drug therapy to drug abuse in children as well as current areas of debate in neonatal drug therapy. Articles are devoted to the following topics: New and Current Drug Therapies For Asthma In Children; Psychopharmacology Of Bipolar Disorders in Children and Adolescents; Designer Drug Abuse in School Children; Dietary Supplements in Children; Anticoagulant Therapies in Children; New Antimicrobials for Gram-Positive Infections in Children; Probiotics in Newborns And Children; Anticonvulsant Therapies in Newborns and Children; Immunomodulator Drug Therapies in Inflammatory Bowel Diseases in Children; Non-Steroidal Anti-Inflammatory Drugs in Newborns and Children; Metformin Use in Pre-Diabetic Children and Adolescents; Problems in Drug Dosing of Obese Children; Inhaled Drugs and Systemic Steroids for Bronchopulmonary Dysplasia; Antifungal Drugs in Newborns and Children; Antiviral Drugs In Newborns and Children; and Development of Drug Therapies for Newborns and Children. Readers will come away with the latest clinical information to help inform them when diagnosing and prescribing for children.
Author: Michael U. Callaghan
Publisher: Elsevier Health Sciences
ISBN: 0323583172
Category : Medical
Languages : en
Pages : 241
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Book Description
This issue will provide a current update on diagnosis, treatment, and management of children with being hematological disorders. Dr. Callaghan has put together a comprehensive issue with clinical reviews written by top experts in the field. Articles are devoted to the following topics: Hemophilia; Sickle cell acute chest; Sickle cell drugs; Sickle cell gene therapy; Sickle cell menses and pain; Pediatric DVT; Atypical HUS; von Willebrand Disease; Female bleeding; Functional platelet disorders; Hemolytic anemia; Advocacy in hematology; ITP; and Acquired aplastic anemia. Readers will come away with the current clinical information they need to improve clinical outcomes.
Author: Beena G. Sood
Publisher: Elsevier Health Sciences
ISBN: 0323678408
Category : Medical
Languages : en
Pages : 265
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Book Description
In collaboration with Consulting Editor, Dr. Bonita Stanton, Drs. Beena Sood and Dara Brodsky have assembled expert authors to bring current information to pediatricians on the topic of Current Advances in Neonatal Care. The focus of the issue spans the full continuum of care, including articles on prenatal care, care in the delivery room, nursery, and post-discharge. Articles are specifically devoted to the following topics: Prenatal Genetic Testing Options; Current Intrauterine Surgery Options; Recent Changes in Neonatal Resuscitation (include LMA); Current Recommendations of Sepsis Evaluation in the Newborn; Hypoglycemia in the Newborn; Maternal Thyroid Disease and Impact on Newborn; Current Approach to Neonatal Abstinence Syndrome; The Current State of State Newborn Screening; Late Preterm Infant: Known risks and monitoring recommendations; Intrauterine Growth Restriction: Postnatal Monitoring and Outcomes; Hearing Risks in Preterm Infants: Who is at risk and how to monitor?; Management Options for Hemangiomas in the Neonate; GERD in the Newborn: Who needs to be treated and what approach is beneficial?; Outpatient Management of NICU Graduate; and Neurodevelopmental Outcome of Premature Infants. Readers will come away with the most current information they need to improve patient outcomes with evidentiary support.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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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.
Author: James C Chan
Publisher: Elsevier Health Sciences
ISBN: 0323655106
Category : Medical
Languages : en
Pages :
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Book Description
With consultation of Dr. Bonita Stanton, Dr. James Chan has assembled a comprehensive list of articles that update the topic of kidney disorders in children. He has secured expert authors from around the world to contribute clinical reviews on the following topics: Urinary tract infection; Hematuria and proteinuria; Metabolic syndrome in childhood obesity; Hypertension; Post-infectious glomerulonephritis; Nephrotic syndrome and glomerular disease; Lupus nephritis; IgA nephropathy and anaphylactoid purpura nephropathy; Tubulointerstitial nephritis; Bartter syndrome and Gitelman syndrome; Renal tubular acidosis; Fanconi syndrome; Dent disease; Hypophosphatemic rickets; Syndrome inappropriate ADH secretion (SIADH); Nephrogenic diabetes insipidus; Hemolytic uremic syndrome and other acute kidney injuries; Chronic kidney disease and dietary measures to slow progression; and Long-term outcome of renal transplantation. Readers will come away with the most current clinical information they need to inform decisions to improve outcomes in pediatric patients.
Author: Roger W. Apple
Publisher: Elsevier Health Sciences
ISBN: 032398780X
Category : Medical
Languages : en
Pages : 217
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Book Description
In this issue of Pediatric Clinics of North America, guest editors Drs. Roger W. Apple and Ethel G. Clemente bring their considerable expertise to the topic of Role of Psychologists in Pediatric Subspecialties. Top experts in the field highlight the interdisciplinary nature of primary care of children where psychology is a factor, placing emphasis the clinical topics, disease states, or medical specialties where mental health has a significant impact on the outcome and successful treatment of clinical issues in children. This issue offers a unique focus on collaboration between the psychologist and pediatrician to optimize outcomes. - Contains 16 practice-oriented topics including helping physicians collaborate with psychologists; psychologists' experiences in pediatric hematology-oncology; the role of psychologists in child abuse pediatrics; the critical role of psychologists in pediatric gastroenterology; the role of psychologists in pediatric sports medicine practice; and more. - Provides in-depth clinical reviews on the role of psychologists in pediatric subspecialties, offering actionable insights for clinical practice. - Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews.
Author: Uttam Garg
Publisher: Elsevier
ISBN: 0128029188
Category : Medical
Languages : en
Pages : 477
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Book Description
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
