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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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This digital document is an article from Clinical Psychiatry News, published by Thomson Gale on August 1, 2005. The length of the article is 629 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Consider genetic disorder in some milder autism cases.(Child/Adolescent Psychiatry)(Smith-Lemli-Opitz syndrome )
Author: Linda Little
Publication: Clinical Psychiatry News (Magazine/Journal)
Date: August 1, 2005
Publisher: Thomson Gale
Volume: 33Issue: 8Page: 51(1)

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In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Smith-Lemli-Opitz syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

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This digital document is an article from Pediatric News, published by International Medical News Group on June 1, 2005. The length of the article is 635 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Consider SLOS in children presenting with autism.(Behavioral Pediatrics)(Smith-Lemli-Opitz syndrome )
Author: Linda Little
Publication: Pediatric News (Magazine/Journal)
Date: June 1, 2005
Publisher: International Medical News Group
Volume: 39Issue: 6Page: 29(1)

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High Quality Content by WIKIPEDIA articles! Smith-Lemli-Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is a metabolic and developmental disorder that affects many parts of the body.This condition is characterized by distinctive facial features, small head size (microcephaly), mental retardation or learning disabilities, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, hypocholesterolemia, paleness and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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Les achats comprennent une adhésion à l'essai gratuite au club de livres de l'éditeur, dans lequel vous pouvez choisir parmi plus d'un million d'ouvrages, sans frais. Le livre consiste d'articles Wikipedia sur : Syndrome de Smith-Lemli-Opitz, Nanisme Létal Type Greenberg, Syndrome Child, Chondrodystrophie Calcifiante Congénitale. Non illustré. Mises à jour gratuites en ligne. Extrait : Le syndrome de Smith-Lemli-Opitz est une maladie génétique rare en rapport avec un déficit en 7-déhydrocholestérol réductase, une enzyme.Ce déficit entraîne une large variété d'anomalies morphologiques. Les principales anomalies sont une microcéphalie, une dysmorphie faciale, des anomalies cérébrales et un retard statural. Le retard mental est constant.Cette pathologie fut décrite pour la première fois en 1964 et l'anomalie génétique causale découverte en 1997. Mutation gène DHCR7 situé au niveau du locus q13 du chromosome 11 codant l'enzyme 7-déhydrocholestérol réductase.Cette enzyme est responsable de la dernière étape de la synthèse du cholestérol.Plus de 70 mutations ont été décrites mais 3 de ces mutations rendent compte de 50 % du type de mutation. 1 sur 10 000 naissances à 1 sur 20 000 naissances. La prévalence semble plus importante en Europe du Nord. Il n'y en a que 20 dans le monde actuellement, dont2 en Espagne et seulement 1 en France. Le déficit de l'activité enzymatique de la déhydrocholestérol réductase entraîne une large variété d'anomalies en rapport avec l'accumulation des composés en amont de la synthèse de cholestérol. Syndactylie (fusion ) des orteilsAnomalies sexuelles chez les garçons Cardiopathie congénitale CataractePhotosensibilitéMaladie de HirschsprungPolydactylie post axiale (du côté cubital) Le taux de cholestérol est habituellement bas mais 10 % des individus ont un taux normal de cholestérol. Le taux de 7-déhydrocholestérol est par contre élevé. La forme en Y des orteils par fusion des 2/3 se rencontre rarement da...http://booksllc.net/?l=fr ... Read more

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CONTENTS CHAPTER IINTRODUCTIONProblems to be Treated--Degrees of Consanguinity--Literature of the Subject--Noah Webster--Bemiss--Dally--G.H. Darwin--Huth--Bell--Legal Status in the United States--Methods of Investigation--Genealogical--Personal--Isolated Communities CHAPTER IIRATIO OF THE CONSANGUINEOUS TO ALL MARRIAGESPrevious Estimates--Mayo-Smith--Mulhall--Darwin--Application of Darwin's Method to American Data--Direct Method--Consanguineal Attraction--Same-name and Different-name Cousin Marriages--Summary CHAPTER IIIMASCULINITYConstancy of the Sex-ratio--Consanguinity and Masculinity--Theory of Westermarck and Thomas--Duesing--Gache--Negroes in the United States--Genealogical Material--Other Compilations--Summary CHAPTER IVCONSANGUINITY AND REPRODUCTIONTheories of the Effect of Consanguinity upon Offspring--Comparative Fertility--Statistics from Darwin and Bemiss--Genealogical Statistics--Youthful Death-rate--Degeneracy--Fallacies in the Work of Bemiss--Isolated Communities--_The Jukes_--Other Degenerate Families--Scrofula
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Being an encyclopedic collection of rare and extraordinary cases, and of the most striking instances of abnormality in all branches of medicine and surgery, derived from an exhaustive research of medical literature from its origin to the present day, abstracted, classified, annotated, and indexed.
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Being an encyclopedic collection of rare and extraordinary cases, and of the most striking instances of abnormality in all branches of medicine and surgery, derived from an exhaustive research of medical literature from its origin to the present day, abstracted, classified, annotated, and indexed.
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Product Description
Being an encyclopedic collection of rare and extraordinary cases, and of the most striking instances of abnormality in all branches of medicine and surgery, derived from an exhaustive research of medical literature from its origin to the present day, abstracted, classified, annotated, and indexed.
... Read more

Product Description
Being an encyclopedic collection of rare and extraordinary cases, and of the most striking instances of abnormality in all branches of medicine and surgery, derived from an exhaustive research of medical literature from its origin to the present day, abstracted, classified, annotated, and indexed. ... Read more

Product Description

Being an encyclopedic collection of rare and extraordinary cases, and of the most striking instances of abnormality in all branches of medicine and surgery, derived from an exhaustive research of medical literature from its origin to the present day, abstracted, classified, annotated, and indexed.
... Read more

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Since the time when man's mind first busied itself with subjects beyond his own self-preservation and the satisfaction of his bodily appetites, the anomalous and curious have been of exceptional and persistent fascination to him; and especially is this true of the construction and functions of the human body. Possibly, indeed, it was the anomalous that was largely instrumental in arousing in the savage the attention, thought, and investigation that were finally to develop into the body of organized truth which we now call Science. As by the aid of collected experience and careful inference we to-day endeavor to pass our vision into the dim twilight whence has emerged our civilization, we find abundant hint and even evidence of this truth. To the highest type of philosophic minds it is the usual and the ordinary that demand investigation and explanation. But even to such, no less than to the most naive-minded, the strange and exceptional is of absorbing interest, and it is often through the extraordinary that the philosopher gets the most searching glimpses into the heart of the mystery of the ordinary. Truly it has been said, facts are stranger than fiction. In monstrosities and dermoid cysts, for example, we seem to catch forbidden sight of the secret work-room of Nature, and drag out into the light the evidences of her clumsiness, and proofs of her lapses of skill,--evidences and proofs, moreover, that tell us much of the methods and means used by the vital artisan of Life,--the loom, and even the silent weaver at work upon the mysterious garment of corporeality.

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An international group of experts presents a broad range of studies on the identification, occurrence, clinical manifestations, and treatment of X-linked mental retardation syndromes. Employs various approaches to X-linked mental retardation, including genetic and physical, covering nosology, prenatal diagnosis and treatment, cytogenetics, gene mapping, molecular basis, epidemiology, and theories of underlying cause. ... Read more