Elaine M.F. Costa's Books

Genetic Steroid Disorders

Chapter 3K. 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

By: Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice

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Genetic Steroid Disorders

Chapter 3K. 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

By: Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice

17β-hydroxysteroid dehydrogenase 3 deficiency (17β-HSD3) consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. Patients present female-like or with ambiguous genitalia at birth and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and almost half change to be males. Maintenance of the testes in patients raised male is safe and recommended, except when the testes cannot be positioned inside the scrotum. The phenotype of 46,XY disorders of sex development (DSD) owing to 17β-HSD3 deficiency is extremely variable and is clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on elevated serum levels of androstenedione and estrone and low levels of testosterone and estradiol, resulting in elevated androstenedione:testosterone and estrone:estradiol ratios, indicating an impairment of the conversion of 17-keto into 17-hydroxysteroids. The disorder is due to homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17β-HSD3 isoenzyme. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the reported and our own cases of 17β-HSD3 deficiency.

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Elsevier Inc. Chapters

Published Date

ISBN 10

0128072881

ISBN 13

9780128072882

Hematopathology - E-Book

By: Elaine Sarkin Jaffe,Daniel A. Arber,Elias Campo,Leticia Quintanilla-Fend,Attilio Orazi,Lisa M. Rimsza,Steven H. Swerdlow

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Hematopathology - E-Book

By: Elaine Sarkin Jaffe,Daniel A. Arber,Elias Campo,Leticia Quintanilla-Fend,Attilio Orazi,Lisa M. Rimsza,Steven H. Swerdlow

Covering the broad range of benign and malignant disorders that affect the hematopoietic system, Hematopathology, 3rd Edition, remains your #1 source of authoritative information in this fast-changing field. Edited by Dr. Elaine Jaffe and a team of globally renowned, expert co-editors, it offers a wealth of up-to-date information in an easily accessible format, equipping you to deliver more accurate and actionable pathology reports. Comprehensive in scope, this highly illustrated, practical text is a must-have resource for residents and practicing pathologists alike. - Helps you navigate the latest changes in the classification of hematolymphoid neoplasms, providing guidance for use of both the International Consensus Classification (ICC) and 5th edition of the WHO classification. - Incorporates the latest molecular/cytogenetic information, regarding newly recognized entities and the latest diagnostic criteria. - Provides you with today's most effective guidance in evaluating specimens from the lymph nodes, bone marrow, peripheral blood, and more, with authoritative information on the pathogenesis, clinical and pathologic diagnosis, and treatment for each. - Details the latest insights on the molecular biology of benign and malignant hematologic disorders. - Features more than 1,100 high-quality color images that mirror the findings you encounter in practice. - Uses an easy-to-navigate, templated format with standard headings in each chapter. - Includes information on disease progression and prognosis, helping you better understand the clinical implications of diagnosis. - Shares the knowledge and expertise of new editors, Drs. Lisa Rimsza, Attilio Orazi, and Steven Swerdlow, providing expertise in molecular diagnostics, bone marrow and lymph node biopsies.

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1694

Publisher

Elsevier Health Sciences

Published Date

ISBN 10

0323831664

ISBN 13

9780323831666

Personality Disorders

By: Heather Barnett Veague,Christine Elaine Collins

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Personality Disorders

By: Heather Barnett Veague,Christine Elaine Collins

Presents an exploration of the causes, symptoms and treatments of personality disorders.

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127

Publisher

Infobase Publishing

Published Date

ISBN 10

1438118392

ISBN 13

9781438118390

Handbook of Clinical Child Neuropsychology

By: Cecil R. Reynolds,Elaine Fletcher-Janzen

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Handbook of Clinical Child Neuropsychology

By: Cecil R. Reynolds,Elaine Fletcher-Janzen

The past decade has brought important advances in our understanding of the brain, particularly its influence on the behavior, emotions, and personality of children and adolescents. In the tradition of its predecessors, the third edition of the Handbook of Clinical Child Neuropsychology enhances this understanding by emphasizing current best practice, up-to-date science, and emerging theoretical trends for a comprehensive review of the field. Along with the Handbook’s impressive coverage of normal development, pathology, and professional issues, brand-new chapters highlight critical topics in assessment, diagnostic, and treatment, including, The role and prevalence of brain dysfunction in ADHD, conduct disorder, the autistic spectrum, and other childhood disorders; The neuropsychology of learning disabilities; Assessment of Spanish-speaking children and youth; Using the PASS (planning, attention, simultaneous, successive) theory in neurological assessment; Forensic child neuropsychology; Interventions for pediatric coma. With singular range, timeliness, and clarity, the newly updated Handbook of Clinical Child Neuropsychology reflects and addresses the ongoing concerns of practitioners as diverse as neuropsychologists, neurologists, clinical psychologists, pediatricians, and physical and speech-language therapists.

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590

Publisher

Springer

Published Date

ISBN 10

1489968075

ISBN 13

9781489968074

Braver Leaders in Action

Personal and Professional Development for Principled Leadership

By: Mike McLaughlin,Elaine Cox

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Braver Leaders in Action

Personal and Professional Development for Principled Leadership

By: Mike McLaughlin,Elaine Cox

Braver Leaders in Action explains why it is vital for ordinary leaders to be brave in the context of unprecedented global challenges. Exercises and practical examples from experienced leaders help to boost your awareness and understanding, ultimately increasing your potential to become a braver leader.

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176

Publisher

Emerald Group Publishing

Published Date

ISBN 10

1803821752

ISBN 13

9781803821757

Kidney Stones

Medical and Surgical Management

By: Fredric Coe,Elaine M Worcester,James E Lingeman,Andrew P Evan

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Kidney Stones

Medical and Surgical Management

By: Fredric Coe,Elaine M Worcester,James E Lingeman,Andrew P Evan

This book is the new edition of this comprehensive guide to the medical and surgical management of kidney stones. Divided into three main sections, the text begins with discussion on the basic formation of kidney stones, followed by mineral metabolism and diseases that lead to the formation of stones, with the final section describing surgical management techniques. The second edition has been thoroughly revised and expanded with new topics including imaging methods, non invasive surgical techniques, and management in special cases such as pregnancy. This new edition also includes discussion on stones in children. With an internationally recognised author team led by US-based specialists, this 900-page text is highly illustrated with clinical photographs and diagrams. Previous edition published in 1995. Key Points Comprehensive guide to medical and surgical management of kidney stones Fully revised second edition, with many new topics Highly illustrated with clinical photographs and diagrams over 900 pages Internationally recognised, US-based author team

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753

Publisher

Jaypee Brothers Medical Publishers

Published Date

ISBN 10

9351529428

ISBN 13

9789351529422

Genetic Steroid Disorders

Chapter 3K. 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

By: Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice

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Genetic Steroid Disorders

Chapter 3K. 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

By: Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice

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Elsevier Inc. Chapters

Published Date

ISBN 10

0128072881

ISBN 13

9780128072882

Book's by Elaine M.F. Costa

Genetic Steroid Disorders

Genetic Steroid Disorders

Hematopathology - E-Book

Hematopathology - E-Book

Personality Disorders

Personality Disorders

Handbook of Clinical Child Neuropsychology

Handbook of Clinical Child Neuropsychology

Braver Leaders in Action

Braver Leaders in Action

Kidney Stones

Kidney Stones

Genetic Steroid Disorders

Genetic Steroid Disorders

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