Genetic Steroid Disorders

Genetic Steroid Disorders
Author: Perrin C. White
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072814
ISBN 13: 9780128072813
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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
Author: Nathalie Josso,Richard L. Cate,Jean-Yves Picard
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072962
ISBN 13: 9780128072967
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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
Author: Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
Publsiher: Academic Press
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0123914671
ISBN 13: 9780123914675
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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

Growth Disorders 2E

Growth Disorders 2E
Author: Chris Kelnar,Martin Savage,Paul Saenger,Chris Cowell
Publsiher: CRC Press
Total Pages: 704
Release: 2007-06-29
ISBN 10: 0340812400
ISBN 13: 9780340812402
Language: EN, FR, DE, ES & NL

Growth Disorders 2E Book Review:

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.

Human Reproductive and Prenatal Genetics

Human Reproductive and Prenatal Genetics
Author: Peter C. K. Leung,Jie Qiao
Publsiher: Academic Press
Total Pages: 709
Release: 2018-08-28
ISBN 10: 0128135719
ISBN 13: 9780128135716
Language: EN, FR, DE, ES & NL

Human Reproductive and Prenatal Genetics Book Review:

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

Basic Genetics

Basic Genetics
Author: Ahmed Abouelmagd,Hussein M. Ageely
Publsiher: Universal-Publishers
Total Pages: 288
Release: 2013-04
ISBN 10: 1612331920
ISBN 13: 9781612331928
Language: EN, FR, DE, ES & NL

Basic Genetics Book Review:

Basic Genetics is a concise introductory textbook that focuses not only on understanding and explaining the main points of genetics, but also upon covering the required essential traditional subjects in the field. The main goal of this textbook is to help first year students who are taking their first course in human genetics to understand the different topics within genetics. It is of particular interest for those who are preparing themselves to study medicine or other medical sciences. This textbook presents only the essential required information. Some of the different subjects included in the eight chapters are: cell cycle and cellular division, Mendelian principles of heredity, the molecular basis of genetic material, gene expression and gene expression control, genetic variations and genetic engineering, as well as human genetics. In addition, Basic Genetics contains multiple choice questions covering each topic and their answers. These questions are absolutely essential for students' self- assessment. These different topics of basic genetics have also been illustrated by simple diagrams in full color.

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders From Bench to Bedside

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders  From Bench to Bedside
Author: Rebecca Ann Muhle,Ellen J. Hoffman,Hanna E. Stevens,Devanand Sadanand Manoli,Jeremy Veenstra-VanderWeele
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2022-02-02
ISBN 10: 2889742695
ISBN 13: 9782889742691
Language: EN, FR, DE, ES & NL

Molecular and Genetic Mechanisms in Neurodevelopmental Disorders From Bench to Bedside Book Review:

Anabolic Steroids and Making Them

Anabolic Steroids and Making Them
Author: Professor Frank
Publsiher: Trafford Publishing
Total Pages: 135
Release: 2006-12-11
ISBN 10: 1412240271
ISBN 13: 9781412240277
Language: EN, FR, DE, ES & NL

Anabolic Steroids and Making Them Book Review:

A comprehensive compilation of making anabolic steroids from their original patents. A do it yourself manual.

Gynecologic Endocrinology

Gynecologic Endocrinology
Author: J.B. Josimovich
Publsiher: Springer Science & Business Media
Total Pages: 716
Release: 2013-11-11
ISBN 10: 1461321573
ISBN 13: 9781461321576
Language: EN, FR, DE, ES & NL

Gynecologic Endocrinology Book Review:

It has been exactly five years since I was privileged to write the foreword for the previous edition of this distinguished book on gynecologic endocrinology. Reproductive endocrinology has been established as a separate respected area in the general field of endocrinology, as well as in obstetrics and gynecology. Years ago the reproductive endocrinologist took long periods of time to answer questions, since most of the studies done then used bioassay methods. These studies were hastened by the work of Berson and Yalow with their development of the radioimmunoassay. They were later awarded the Nobel Prize for this work, since it unlocked many avenues of investigation in the field of endocrinology. It is now possible to measure small quantities of hormones in various biological tissues. Since that time high-pressure liquid chro matography and mass spectrometry have unlocked further secrets in this field with their capability of measuring ever smaller quantities of substances as well as their metabolites. Giant strides have been made in other diagnostic methods that interface with gynecologic endocrinology, notably in the field of radiology in the arena of tomography and CAT scans, and now nuclear magnetic resonance. Progress will be pushed still further, and this fourth edition again identifies the leading edge of knowledge. Such new areas embrace the physiology of relaxin, the ontogeny of sexual differentiation, diagnostic procedures on the cervix, functional dysmenorrhea and anorexia nervosa, idiopathic edema, and the misunderstood premenstrual tension syndrome.

Essentials of Medical Biochemistry

Essentials of Medical Biochemistry
Author: Chung-Eun Ha,N. V. Bhagavan
Publsiher: Academic Press
Total Pages: 600
Release: 2011-01-28
ISBN 10: 9780080916880
ISBN 13: 0080916880
Language: EN, FR, DE, ES & NL

Essentials of Medical Biochemistry Book Review:

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

Pediatric Endocrinology

Pediatric Endocrinology
Author: Fima Lifshitz
Publsiher: CRC Press
Total Pages: 816
Release: 2013-12-19
ISBN 10: 1482248018
ISBN 13: 9781482248012
Language: EN, FR, DE, ES & NL

Pediatric Endocrinology Book Review:

Celebrating more than twenty years as the single best source in the field, this Fifth Edition has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 renowned contributors that comprehensively address every topic and trend relevant to the identification, diagnosis, and management of endocrine and endocrine-related diso

The Adrenal Gland

The Adrenal Gland
Author: C.R. Kannan
Publsiher: Springer Science & Business Media
Total Pages: 516
Release: 2012-12-06
ISBN 10: 1461310016
ISBN 13: 9781461310013
Language: EN, FR, DE, ES & NL

The Adrenal Gland Book Review:

This volume, The Adrenal Gland, is the second in the Clinical Surveys in Endo crinology series. Like its predecessor on the pituitary gland, this work is written with one purpose in mind-to view the vast, relevant adrenal literature through a clinician's eyes. The intricate, and often complex, interrelationship between the clinical and research perspectives of "adrenology" poses a challenge. This is, in part, due to the commonly held belief that the milieux of steroid hormone research and clinical medicine are parallel phenomena, not destined to meet. But the twain do meet, and often with relative ease, when viewed as twin facets of the same gem. The view presented in this work is from the vantage point of the clinical endocrinologist who applies the research literature to understand adre nal diseases more clearly. Adrenal pathology is arguably the most fascinating of all endocrinopathies. The images of patients suffering from adrenal diseases are of kaleidoscopic quality: the newborn child with ambiguous genitalia, in whom the very first ritual of assigning sex becomes shrouded with uncertainty; the revitalized pa tient with hitherto undiagnosed Addison's disease, who but for the cognitive powers of the endocrinologist would have ultimately succumbed, undiagnosed; the virilized female with adrenal tumor and its attendant onslaught on the body and mind; the febrile patient with pheochromocytoma masquerading as fever of undetermined origin for months.

Diagnosis and Management of Ovarian Disorders

Diagnosis and Management of Ovarian Disorders
Author: Albert Altchek,Liane Deligdisch,Nathan G. Kase
Publsiher: Unknown
Total Pages: 568
Release: 2003
ISBN 10: 1928374650XXX
ISBN 13: UOM:39015056290805
Language: EN, FR, DE, ES & NL

Diagnosis and Management of Ovarian Disorders Book Review:

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

Knobil and Neill s Physiology of Reproduction

Knobil and Neill s Physiology of Reproduction
Author: Tony M. Plant,Anthony J. Zeleznik
Publsiher: Academic Press
Total Pages: 2684
Release: 2014-11-15
ISBN 10: 012397769X
ISBN 13: 9780123977694
Language: EN, FR, DE, ES & NL

Knobil and Neill s Physiology of Reproduction Book Review:

The Fourth Edition of Knobil & Neill continues to serve as a reference aid for research, to provide the historical context to current research, and most importantly as an aid for graduate teaching on a broad range of topics in human and comparative reproduction. In the decade since the publication of the last edition, the study of reproductive physiology has undergone monumental changes. Chief among these advances are in the areas of stem cell development, signaling pathways, the role of inflammation in the regulatory processes in the various tissues, and the integration of new animal models which have led to a greater understanding of human disease. The new edition synthesizes all of this new information at the molecular, cellular, and organismal levels of organization and present modern physiology a more understandable and comparative context. The Fourth Edition has been extensively revised, reflecting new fundamental advancements in this rapidly advancing field. Provides a common language for researchers across the fields of physiology, endocrinology, and biology to discuss their understanding of reproduction. Saves academic researchers time in quickly accessing the very latest details on reproductive physiology, as opposed to searching through thousands of journal articles.

Genetic Neuromuscular Disorders

Genetic Neuromuscular Disorders
Author: Corrado Angelini
Publsiher: Springer
Total Pages: 433
Release: 2017-10-05
ISBN 10: 3319564544
ISBN 13: 9783319564548
Language: EN, FR, DE, ES & NL

Genetic Neuromuscular Disorders Book Review:

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Peripheral Nerve Disorders

Peripheral Nerve Disorders
Author: Davide Pareyson,Chiara Marchesi,Ettore Salsano
Publsiher: Elsevier Inc. Chapters
Total Pages: 1008
Release: 2013-08-17
ISBN 10: 0128078782
ISBN 13: 9780128078785
Language: EN, FR, DE, ES & NL

Peripheral Nerve Disorders Book Review:

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.

Adrenal Disorders

Adrenal Disorders
Author: E. D. Vaughan,Robert M. Carey
Publsiher: Thieme Medical Pub
Total Pages: 304
Release: 1989
ISBN 10: 1928374650XXX
ISBN 13: UOM:39015014489259
Language: EN, FR, DE, ES & NL

Adrenal Disorders Book Review:

Schizophrenia Bulletin

Schizophrenia Bulletin
Author: Anonim
Publsiher: Unknown
Total Pages: 135
Release: 1984
ISBN 10: 1928374650XXX
ISBN 13: MINN:30000001413784
Language: EN, FR, DE, ES & NL

Schizophrenia Bulletin Book Review:

Self Assessment in Obstetrics and Gynaecology by Ten Teachers 2E EMQs MCQs SAQs OSCEs

Self Assessment in Obstetrics and Gynaecology by Ten Teachers 2E EMQs  MCQs  SAQs   OSCEs
Author: Catherine EM Aiken,Jeremy C Brockelsby,Christian Phillips
Publsiher: CRC Press
Total Pages: 176
Release: 2012-07-27
ISBN 10: 1444170511
ISBN 13: 9781444170511
Language: EN, FR, DE, ES & NL

Self Assessment in Obstetrics and Gynaecology by Ten Teachers 2E EMQs MCQs SAQs OSCEs Book Review:

This book presents medical students and those preparing for postgraduate examinations with an ideal opportunity to assess their levels of knowledge and understanding in obstetrics and gynaecology, and to practice their exam technique across a range of question formats. It can be used as a standalone revision guide, but is also designed to complement the latest editions of the best-selling volumes Gynaecology by Ten Teachers and Obstetrics by Ten Teachers. Key features: Includes an extensive range of question types—EMQs, MCQs, SBAs, SAQs, and OSCEs—providing comprehensive coverage compatible with all relevant examinations Fully up-to-date—ensuring prospective candidates practice across all areas on which they will be tested Clear and accessible— with concise explanations of answers and directions to the Ten Teachers textbooks for those seeking further advice and guidance With coverage across the obstetrics and gynaecology curriculum, medical students and those studying for for DRCOG and MRCOG examinations will find Self Assessment in Obstetrics and Gynaecology by Ten Teachers provides invaluable practice and guidelines during the critical revision period.

Catalog of Cell Lines

Catalog of Cell Lines
Author: Anonim
Publsiher: Unknown
Total Pages: 135
Release: 1982
ISBN 10: 1928374650XXX
ISBN 13: COLUMBIA:HR00916625
Language: EN, FR, DE, ES & NL

Catalog of Cell Lines Book Review: