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Genetic Steroid Disorders 2e

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Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Nathalie Josso,Richard L. Cate,Jean-Yves Picard
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072962
Language : En, Es, Fr & De

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Book Description :

The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives in otherwise normally virilized XY individuals. The condition is usually due to a mutation in either the anti-Müllerian hormone (AMH) or the AMH type II receptor (AMHR-II) genes and is transmitted as a recessive autosomal trait. Sixty-five families with AMH mutations and 59 with AMHR-II mutations have been reported to date. Clinical symptoms include cryptorchidism and/or inguinal hernia, and are identical for ligand and receptor mutations. However, the prepubertal serum level of AMH is nearly undetectable in AMH mutations, whereas it is close to normal in receptor mutations. Infertility is the main complication. Construction of molecular models for the AMH and AMHR-II has provided insight into how some mutations affect the biosynthesis and processing of these molecules, and how other mutations affect signal transduction.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Perrin C. White
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072814
Language : En, Es, Fr & De

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Book Description :

Humans have two isozymes with 11β-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, is expressed at high levels and is regulated by ACTH. CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated mainly by angiotensin II and potassium levels. The latter enzyme also has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Mutations in the CYP11B1 gene cause steroid 11β-hydroxylase deficiency, a form of congenital adrenal hyperplasia. Mutations in CYP11B2 result in aldosterone synthase deficiency, which can cause hyponatremia, hyperkalemia and hypovolemia in infancy. These are both recessive disorders. Unequal crossing over between the CYP11B genes can generate a duplicated chimeric gene, causing glucocorticoid-suppressible hyperaldosteronism, an autosomal dominant form of hypertension. Frequent polymorphisms in these genes can affect aldosterone secretion and risk of hypertension.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
Publisher : Academic Press
Release : 2013-08-22
ISBN : 0123914671
Language : En, Es, Fr & De

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Book Description :

This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders Includes the very latest details on genetic tests and diagnoses Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Maria I. New,Oksana Lekarev,Denesy Mancenido,Alan Parsa,Tony Yuen
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072784
Language : En, Es, Fr & De

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Book Description :

Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive genetic disorders that arise from defective steroidogenesis. The 21-hydroxylase deficiency (21OHD) is the most common form of CAH, accounting for more than 90% of cases. It is the most common disorder of sexual development (DSD) in females. The gene is encoded by CYP21A2, which is located on the short arm of chromosome 6 (6p21.3). The activity of the enzyme 21-hydroxylase, encoded by the CYP21A2 gene, is deficient, leading to an accumulation of 17-hydroxyprogesterone (17-OHP) and subsequent elevation of androgens. The three forms of 21OHD are the salt-wasting form, simple-virilizing form, and non-classical form. The first two forms are classical forms of the disease where the hallmark finding is ambiguity of the genitalia in affected female newborns. Patients with the non-classical form have normal genitalia, yet may present with signs of early sexual development and other symptoms of hyperandrogenemia such as short stature, hirsutism, acne, and impaired fertility. Hormonal testing is important in making the diagnosis of 21-hydroxylase deficiency, yet genetic testing is crucial to secure the diagnosis. More than 100 mutations have been identified caused by gene conversions, large scale gene deletions, and de novo mutations, and novel mutations are continuously being identified. Genotype–phenotype non-concordance is observed in a significant number of patients.

Growth Disorders 2E

Growth Disorders 2E Book
Author : Chris Kelnar,Martin Savage,Paul Saenger,Chris Cowell
Publisher : CRC Press
Release : 2007-06-29
ISBN : 1444113739
Language : En, Es, Fr & De

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Book Description :

Linear growth is a biological process of fundamental importance to the physical and psychological make-up of a child and adolescent but which can be subject to a number of interruptions and disorders. The management and treatment of patients with growth disorders constitues a major, and important, part of practice in clinical paediatrics, while in public health terms growth assessment remains one of the most useful indices of health and economic well being in both developed and the developing world. This book approaches growth and its disorders from both a physiological and pathophysiological standpoint. The book outlines in detail the fundamental biological mechanisms of normal and abnormal linear growth, how to assess growth accurately fundamental to the early detection of abnormality and, importantly, how to manage disorders leading to short and tall stature, and disorders of the timing of puberty. Throughout, emphasis is given on achieving a satisfactory outcome for the child and parent by keeping them fully informed as to what is possible from a particular treatment strategy. The result is a wide-ranging and balanced account of this challenging field drawing on the expertise of a team of international specialists from a variety of backgrounds.

Essentials of Nephrology 2 e

Essentials of Nephrology  2 e Book
Author : kasi Visveswaran
Publisher : BI Publications Pvt Ltd
Release : 2009
ISBN : 9788172253233
Language : En, Es, Fr & De

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Book Description :

Download Essentials of Nephrology 2 e book written by kasi Visveswaran, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Textbook of Nephro Endocrinology

Textbook of Nephro Endocrinology Book
Author : Ajay K. Singh,Gordon H. Williams
Publisher : Academic Press
Release : 2009-01-12
ISBN : 9780080920467
Language : En, Es, Fr & De

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Book Description :

The Textbook of Nephro-Endocrinology is the definitive translational reference in the field of nephro-endocrinology, investigating both the endocrine functions of the kidneys and how the kidney acts as a target for hormones from other organ systems. It offers researchers and clinicians expert, gold-standard analyses of nephro-endocrine research and translation into the treatment of diseases such as anemia, chronic kidney disease (CKD), rickets, osteoporosis, and, hypoparathyroidism. Investigates both the endocrine functions of the kidneys and how the kidney acts as a target for hormones from other organ systems Presents a uniquely comprehensive and cross-disciplinary look at all aspects of nephro-endocrine disorders in one reference work Clear translational presentations by the top endocrinologists and nephrologists in each specific hormone or functional/systems field

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders From Bench to Bedside

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders  From Bench to Bedside Book
Author : Rebecca Ann Muhle,Ellen J. Hoffman,Hanna E. Stevens,Devanand Sadanand Manoli,Jeremy Veenstra-VanderWeele
Publisher : Frontiers Media SA
Release : 2022-02-02
ISBN : 2889742695
Language : En, Es, Fr & De

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Book Description :

Download Molecular and Genetic Mechanisms in Neurodevelopmental Disorders From Bench to Bedside book written by Rebecca Ann Muhle,Ellen J. Hoffman,Hanna E. Stevens,Devanand Sadanand Manoli,Jeremy Veenstra-VanderWeele, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Risk Factors for Late Onset Alzheimer s Disease in Chinese

Genetic Risk Factors for Late Onset Alzheimer s Disease in Chinese Book
Author : Lu-Hua Chen
Publisher : Open Dissertation Press
Release : 2017-01-26
ISBN : 9781361304631
Language : En, Es, Fr & De

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Book Description :

This dissertation, "Genetic Risk Factors for Late-onset Alzheimer's Disease in Chinese" by Lu-hua, Chen, 陈璐华, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: Alzheimer's disease (AD) is a progressive neurodegenerative disorder, with genetic factors playing critical roles in its pathogenesis. Mutations in APP, PSEN1 and PSEN2 genes are confirmed to be causative risk factors for early-onset Alzheimer's disease (EOAD). For late-onset Alzheimer's disease (LOAD), growing evidence suggests it is caused by multiple genetic risk factors in corporation with the environmental exposures. Although, so far, APOE is the most well recognized common genetic risk factor for LOAD, other susceptible candidate genes, such as CR1, CLU and PICALM, have recently been identified in Caucasians using genome-wide association approach. In order to have a better understanding on the genetic components of LOAD in Chinese as well as identify other potential genetic risk factors for Chinese ethnic population, we conducted a case-control study using candidate gene association approach. In view of increasing evidence on the neural protective effects of sex steroid hormones both in vivo and in vitro, we hypothesized variations on sex steroid metabolic pathway genes were associated with LOAD. Four candidate genes (ESR1, ESR2, CYP19A1, CYP11A1) were evaluated based on 462 cases and 350 non-demented controls. Apart from consistent result for APOE, polymorphisms in ESR2 and CYP11A1 were found to be significantly associated with the disease. When stratification according to gender, marginally significant associations were detected for ESR1 and ESR2 variants in men while CYP11A1 variants relevant to LOAD risk were detected exclusively in women. Additionally, genotypic and phenotypic correlation analysis revealed CYP19A1 was significantly relevant to serum 17-estradiol (E2) levels in 689 subgroup participants, especially in 400 LOAD patients of subgroup. Further gene-level analyses based on whole sample confirmed above disease association for ESR2 and CYP11A1 and pathway-level analyses highlighted the impact of sex steroid metabolic pathway on disease predisposition. The independent follow-up study for CR1, CLU and PICALM previously reported by genome-wide association study (GWAS) in Caucasians was conducted in the same Chinese cohort. Similar to the Caucasian cohort, polymorphisms in CR1 and CLU were found to be significantly different between cases and non-demented controls. However, significant disease association for PICAML was detected only in the APOE ε4 (-) subgroup of our Chinese cohort. In conclusions, genetic abnormalities were founded in Chinese LOAD patients. In addition to confirmation disease susceptibility for APOE, CR1, CLU and PICALM, we were first to report the associations between several sex steroid metabolic pathway genes and LOAD. This valuable genetic information obtained from Chinese patients may lead to the development of novel diagnostic strategies and therapeutic interventions in LOAD. DOI: 10.5353/th_b4961758 Subjects: Alzheimer's disease - Genetic aspects

Peripheral Nerve Disorders

Peripheral Nerve Disorders Book
Author : Davide Pareyson,Chiara Marchesi,Ettore Salsano
Publisher : Elsevier Inc. Chapters
Release : 2013-08-17
ISBN : 0128078782
Language : En, Es, Fr & De

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Book Description :

Charcot–Marie–Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved. Consequently, a precise genetic diagnosis is now possible in the majority of cases, thus allowing proper genetic counseling. Although, unfortunately, treatment is still unavailable for all types of CMT, several cellular and animal models have been developed and some compounds have proved effective in these models. The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials.

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics Book
Author : Peter C. K. Leung,Jie Qiao
Publisher : Academic Press
Release : 2018-08-28
ISBN : 0128135719
Language : En, Es, Fr & De

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Book Description :

Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization and implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics based approaches

Role of Protein Protein Interactions in Metabolism Genetics Structure Function 2nd Edition

Role of Protein Protein Interactions in Metabolism  Genetics  Structure  Function  2nd Edition Book
Author : Amit V. Pandey,Colin J. Henderson,Yuji Ishii,Michel Kranendonk,Wayne L. Backes,Ulrich M. Zanger
Publisher : Frontiers Media SA
Release : 2018-06-20
ISBN : 2889454916
Language : En, Es, Fr & De

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Book Description :

Genetic variations may change the structure and function of individual proteins as well as affect their interactions with other proteins and thereby impact metabolic processes dependent on protein-protein interactions. For example, cytochrome P450 proteins, which metabolize a vast array of drugs, steroids and other xenobiotics, are dependent on interactions with redox and allosteric partner proteins for their localization, stability, (catalytic) function and metabolic diversity (reactions). Genetic variations may impact such interactions by changing the splicing and/or amino acid sequence which in turn may impact protein topology, localization, post translational modifications and three dimensional structure. More generally, research on single gene defects and their role in disease, as well as recent large scale sequencing studies suggest that a large number of genetic variations may contribute to disease not only by affecting gene function or expression but also by modulating complex protein interaction networks. The aim of this research topic is to bring together researchers working in the area of drug, steroid and xenobiotic metabolism who are studying protein-protein interactions, to describe their recent advances in the field. We are aiming for a comprehensive analysis of the subject from different approaches including genetics, proteomics, transcriptomics, structural biology, biochemistry and pharmacology. Of particular interest are papers dealing with translational research describing the role of novel genetic variations altering protein-protein interaction. Authors may submit original articles, reviews and opinion or hypothesis papers dealing with the role of protein-protein interactions in health and disease. Potential topics include, but are not limited to: • Role of protein-protein interactions in xenobiotic metabolism by cytochrome P450s and other drug metabolism enzymes. • Role of classical and novel interaction partners for cytochrome P450-dependent metabolism which may include interactions with redox partners, interactions with other P450 enzymes to form P450 dimers/multimers, P450-UGT interactions and proteins involved in posttranslational modification of P450s. • Effect of genetic variations (mutations and polymorphisms) on metabolism affected by protein-protein interactions. • Structural implications of mutations and polymorphisms on protein-protein interactions. • Functional characterization of protein-protein interactions. • Analysis of protein-protein interaction networks in health and disease. • Regulatory mechanisms governing metabolic processes based on protein-protein interactions. • Experimental approaches for identification of new protein-protein interactions including changes caused by mutations and polymorphisms.

Anabolic Bible 2E

Anabolic Bible 2E Book
Author : Johann Reinhardt
Publisher : Unknown
Release : 2015-05-17
ISBN : 9781512235609
Language : En, Es, Fr & De

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Book Description :

New, 2nd edition. When compared to first edition it is significantly improved and updated, offering new and better explanation of important facts from previous edition. It contains detailed description of over 270 chemical compounds and every data relevant to athletes and scientists.This edition is literally made for everyone who wants the most comprehensive explanation and the most accurate information about any drug, legal or illegal. It will be of great help to every athlete and especially medical professionals who are increasingly encountering with problems of steroid and drug use/abuse . There is no any other book that can compare to Anabolic Bible because Anabolic Bible is written BY athlete FOR athletes.

Dry Skin and Moisturizers

Dry Skin and Moisturizers Book
Author : Marie Loden,Howard I. Maibach
Publisher : CRC Press
Release : 1999-12-06
ISBN : 9780849375200
Language : En, Es, Fr & De

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Book Description :

Dry Skin and Moisturizers: Chemistry and Function presents new information relating to skin biochemistry and pathological changes seen in various dry skin disorders. The book examines the pharmacology of ingredients in moisturizing preparations, providing a broad overview of formulations as well as detailed information on ingredients. Featuring contributions from leading researchers from around the world, the book also outlines general principles for testing and evaluation of effects on the skin, with particular emphasis on safety assessment. This comprehensive book is divided into five parts. Part I, Dry Skin and Moisturizers, offers an introduction to this fascinating topic, while Part II, Biochemistry and Function of the Skin, explores everything from particle probes and skin physiology to the distribution and function of physiological elements in skin. Part III focuses on dry skin and hyperkeratotic conditions. Physico-chemical considerations, emulsifiers, hydrophilic pastes, lanolins, and other topics are addressed in Part IV, Formulations and Interactions with the Skin; while safety assessments, human in vivo skin irritancy testing, sensitive skin, and more are examined in Part V, Evaluation and Safety.

Peripheral Nerve Disorders

Peripheral Nerve Disorders Book
Author : Jean-Michel Vallat,Joachim Weiss
Publisher : John Wiley & Sons
Release : 2014-08-01
ISBN : 1118618416
Language : En, Es, Fr & De

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Book Description :

Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans. Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.

Essentials of Medical Biochemistry

Essentials of Medical Biochemistry Book
Author : Chung-Eun Ha,N. V. Bhagavan
Publisher : Academic Press
Release : 2011-01-28
ISBN : 9780080916880
Language : En, Es, Fr & De

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Book Description :

Expert biochemist N.V. Bhagavan’s new work condenses his successful Medical Biochemistry texts along with numerous case studies, to act as an extensive review and reference guide for both students and experts alike. The research-driven content includes four-color illustrations throughout to develop an understanding of the events and processes that are occurring at both the molecular and macrolecular levels of physiologic regulation, clinical effects, and interactions. Using thorough introductions, end of chapter reviews, fact-filled tables, and related multiple-choice questions, Bhagavan provides the reader with the most condensed yet detailed biochemistry overview available. More than a quick survey, this comprehensive text includes USMLE sample exams from Bhagavan himself, a previous coauthor. * Clinical focus emphasizing relevant physiologic and pathophysiologic biochemical concepts * Interactive multiple-choice questions to prep for USMLE exams * Clinical case studies for understanding basic science, diagnosis, and treatment of human diseases * Instructional overview figures, flowcharts, and tables to enhance understanding

Sex Steroids Effects on Brain Heart and Vessels

Sex Steroids  Effects on Brain  Heart and Vessels Book
Author : Roberta Diaz Brinton,Andrea R. Genazzani,Tommaso Simoncini,John C. Stevenson
Publisher : Springer
Release : 2019-05-29
ISBN : 3030113558
Language : En, Es, Fr & De

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Book Description :

This book analyzes the effects of estrogens and progesterone on brain cells, the immune system, neuro inflammation, myelin formation and steroid receptor distribution, as well as their clinical impacts. It also explores the relationship between sex-steroid withdrawal and the development of brain symptoms such as hot flushes, sleep disorders, mood changes, depression and also cognitive disorders and dementia, as well as the effects of hormone menopause therapy on such symptoms and diseases. Starting with obstetrical history and cardiovascular risk in later life, the second part of the book examines the effects of estrogens and progestogens on vascular tissues, atherosclerosis and coronary heart diseases, as well as the impact of hormone replacement therapies on cardiovascular risks and mortality. This volume is a useful, clear and up-to-date tool for gynecologists, endocrinologists, neurologists and cardiologists, and serves as a valuable source of information for all physicians involved in women’s health.

Receptors and Hormone Action

Receptors and Hormone Action Book
Author : Bert W. O'Malley,Lutz Birnbaumer
Publisher : Academic Press
Release : 2013-10-22
ISBN : 1483262715
Language : En, Es, Fr & De

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Book Description :

Receptors and Hormone Action, Volume II, is part of a multivolume series that summarizes advances in the field of hormone action. The articles contained in these books are oriented toward a description of basic methodologies and model systems used in the exploration of the molecular bases of hormone action, and are aimed at a broad spectrum of readers including those who have not yet worked in the field as well as those who have considerable expertise in one or another aspect of hormone action. The book opens with a chapter on the relationship between steroid hormone-receptor binding and biologic response. This is followed by separate chapters on conformational forms of the estrogen receptor; the relationship of early responses of the cell to estrogen to DNA synthesis; the role of receptors in the anabolic action of androgens; and biology of progesterone receptors. Subsequent chapters deal with the molecular structure and analysis of progesterone receptors; the regulation of gene expression by glucocorticoid hormones; studies of the aldosterone receptor in the adrenalectomized rat kidney; and existence of gonadal steroid receptors in brain and pituitary tissue.

Annotated hierarchy

Annotated hierarchy Book
Author : National Institute on Alcohol Abuse and Alcoholism (U.S.)
Publisher : Unknown
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Annotated hierarchy book written by National Institute on Alcohol Abuse and Alcoholism (U.S.), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Diagnosis and Management of Ovarian Disorders

Diagnosis and Management of Ovarian Disorders Book
Author : Albert Altchek,Liane Deligdisch,Nathan Kase
Publisher : Elsevier
Release : 2003-09-04
ISBN : 008049451X
Language : En, Es, Fr & De

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Book Description :

This updated second edition of Diagnosis and Management of Ovarian Disorders provides thorough, yet succinct insight into the ever-changing realm of ovarian disorders. It presents a novel multidisciplinary approach to the subject as described by clinicians, surgeons, pathologists, basic scientists and related medical researchers. Topics covered include reproductive technology, early diagnosis of ovarian cancer, and management of menopause among others. The breadth of information provided by this book will appeal to clinicians and researchers involved in the study and treatment of ovarian disorders. KEY FEATURES * Includes updated information on early diagnosis of ovarian cancer * Reviews new diagnostic techniques for ovarian disorders * Discusses latest information on reproductive technology * Presents translational treatment linking laboratory research with clinical medicine