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Chapters: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome, Progeria, Ataxia Telangiectasia, Johanson-blizzard Syndrome, Ectrodactyly-ectodermal Dysplasia-cleft Syndrome, Klinefelter's Syndrome, Leopard Syndrome, X-Linked Ichthyosis, Dyskeratosis Congenita, Noonan Syndrome, Epidermolysis Bullosa, Epidermolytic Hyperkeratosis, Crouzon Syndrome, Keratolytic Winter Erythema, Proteus Syndrome, Adams-oliver Syndrome, Keratosis Pilaris, Bloom Syndrome, Lamellar Ichthyosis, Harlequin Type Ichthyosis, Costello Syndrome, Xeroderma Pigmentosum, Klippel-feil Syndrome, Ichthyosis Bullosa of Siemens, Apert Syndrome, Refsum's Disease, Silver-russell Syndrome, Treacher Collins Syndrome, Werner Syndrome, Poems Syndrome, Oculodentodigital Dysplasia, Albright's Hereditary Osteodystrophy, Hypohidrotic Ectodermal Dysplasia, Ichthyosis Vulgaris, Xxyy Syndrome, Cockayne Syndrome, Schindler Disease, Kabuki Syndrome, Multiple Sulfatase Deficiency, Cronkhite-Canada Syndrome, Epidermolysis Bullosa Dystrophica, Acrodermatitis Enteropathica, Netherton Syndrome, Rombo Syndrome, Darier's Disease, Cartilage-hair Hypoplasia, Wolf-hirschhorn Syndrome, Hay-wells Syndrome, Popliteal Pterygium Syndrome, Ichthyosis Hystrix, Conradi-hünermann Syndrome, Cardiofaciocutaneous Syndrome, Pachyonychia Congenita, Zunich-kaye Syndrome, Kindler Syndrome, Hailey-hailey Disease, Papillon-lefèvre Syndrome, Congenital Ichthyosiform Erythroderma, Zimmermann-laband Syndrome, Acrocephalosyndactylia, Cutis Verticis Gyrata, Townes-brocks Syndrome, Rothmund-thomson Syndrome, Marinesco-sjögren Syndrome, Disseminated Superficial Actinic Porokeratosis, Sjögren-larsson Syndrome, Van Der Woude Syndrome, Dermatopathia Pigmentosa Reticularis, Meleda Disease, Confluent and Reticulated Papillomatosis of Gougerot and Carteaud, Ibids Syndrome, Pfeiffer Syndrome, Lelis Syndrome, Child Syndrome, Ifap Syndrome, Naegeli-...More: http://booksllc.net/?id=49364 ... Read more

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This digital document is a journal article from Brain and Cognition, published by Elsevier in 2007. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner syndrome, and 40 females with neither disorder who comprised the comparison group. Group differences emerged for both the fragile X and Turner syndrome groups, each relative to the comparison group: Females with fragile X had deficits in generating memory-guided saccades, predictive saccades, and saccades made in the overlap condition of a gap/overlap task. Females with Turner syndrome showed deficits in generating memory-guided saccades, but not during either the predictive saccade or gap/overlap task. Females with Turner syndrome, but not females with fragile X, showed deficits in visually guided saccades and anti-saccades. These findings indicate that different brain regions are affected in the two disorders, and suggest that different pathways lead to the similar cognitive phenotypes described for fragile X and Turner syndromes. ... Read more

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This digital document is a journal article from Brain and Cognition, published by Elsevier in 2006. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group, although the likelihood of MLD persisting through the primary school years was comparable for all three groups. In Study 2, formal and informal math skills were compared across the syndrome groups, a normative group, and children from the normative group who had MLD. Few differences were observed between the Turner syndrome and normative groups. Despite having rote counting and number representation skills comparable to those in the normative group, girls with fragile X had difficulty with counting rules (e.g., cardinality, number constancy). However, this difficulty did not distingush them from the MLD group. Overall, counting skills appear to distinguish the Turner syndrome and fragile X groups, suggesting that the specificity of math deficits emerges earlier for fragile X than Turner syndrome. ... Read more

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This digital document is an article from Journal of Nursing Scholarship, published by Sigma Theta Tau International Honor Society of Nursing on March 22, 2001. The length of the article is 2598 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: Factors That Affect Coping with Turner Syndrome.
Author: Susan Kagan-Krieger
Publication: Journal of Nursing Scholarship (Refereed)
Date: March 22, 2001
Publisher: Sigma Theta Tau International Honor Society of Nursing
Volume: 33Issue: 1Page: 43

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Targeted to patients, their families and allied health students, The “Gale Encyclopedia of Neurological Disorders” provides in-depth coverage of neurological diseases and disorders, including stroke, multiple sclerosis, Parkinson disease, Tourette Syndrome, Alzheimer's disease, cerebral palsy, vertigo, amnesia and epilepsy. Related topics include communication aids, electric personal assistive mobility devices, medications for treating neurological diseases and conditions, understanding the needs of Alzheimer patient caregivers and more. This two-volume set provides an alternative to resources that either fail to explore neurological disease in any depth and or do so at a level not appropriate for students and general readers.

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This digital document is an article from Pediatric News, published by Thomson Gale on February 1, 2007. The length of the article is 672 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: Group issues new turner syndrome guidelines.(News)(Disease/Disorder overview)
Author: Christine Kilgore
Publication: Pediatric News (Magazine/Journal)
Date: February 1, 2007
Publisher: Thomson Gale
Volume: 41Issue: 2Page: 5(1)

Article Type: Disease/Disorder overview

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The “Gale Encyclopedia of Science” is written at a level somewhere between the introductory sources and the highly technical texts currently available. This six-volume set covers all major areas of science and engineering, as well as mathematics and the medical and health sciences, while providing a comprehensive overview of current scientific knowledge and technology. Alphabetically arranged entries provide a user-friendly format that makes the broad scope of information easy to access and decipher. Entries typically describe scientific concepts, provide overviews of scientific areas and, in some cases, define terms.

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Le syndrome de Turner touche 1 naissance sur 2500 et atteint exclusivement les filles. Il est dû à une anomalie de nombre ou de structure du chromosome X qui est responsable d’une petite taille, d’une dysgénésie gonadique et d’atteintes polyviscérales.

Depuis vingt ans la prise en charge pédiatrique a révolutionné le devenir de ces enfants grâce aux traitements par hormone de croissance et par estrogènes.

Une synthèse des connaissances cliniques relatives à chaque spécialité était nécessaire de manière à développer une approche pluridisciplinaire indispensable dans ce type d’affection.

Cet ouvrage est un outil indispensable pour tout médecin cherchant à acquérir une base de connaissances dans ce domaine. Le lecteur sera conquis par l’intérêt didactique et par la précision de chaque chapitre rédigé par des experts du domaine.

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This digital document is an article from Family Practice News, published by Thomson Gale on February 15, 2007. The length of the article is 882 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: New Turner syndrome guidelines urge better adult care.(Metabolic Disorders)
Author: Christine Kilgore
Publication: Family Practice News (Magazine/Journal)
Date: February 15, 2007
Publisher: Thomson Gale
Volume: 37Issue: 4Page: 16(1)

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Avoiding hard-to-understand medical jargon, the four-volume “Gale Encyclopedia of Children’s Health” uses language that parents can understand, while still providing enough depth to benefit today's health science students. The set provides in-depth coverage of pediatric diseases and disorders, along with issues related to physical and cognitive/behavioral development.

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This digital document is an article from Internal Medicine News, published by International Medical News Group on August 15, 2002. The length of the article is 826 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.

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Title: Transition to adult care in Turner's, Klinefelter's. (Patients Fall Through Health Care Cracks).
Author: Erik L. Goldman
Publication: Internal Medicine News (Magazine/Journal)
Date: August 15, 2002
Publisher: International Medical News Group
Volume: 35Issue: 16Page: 22(1)

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This digital document is an article from Pediatric News, published by International Medical News Group on February 1, 2005. The length of the article is 384 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: Early Tx prevents height loss in Turner's girls.(Clinical Rounds)(growth hormones )
Author: Michele G. Sullivan
Publication: Pediatric News (Magazine/Journal)
Date: February 1, 2005
Publisher: International Medical News Group
Volume: 39Issue: 2Page: 25(1)

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This digital document is an article from Pediatric News, published by International Medical News Group on February 1, 2005. The length of the article is 468 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: Hearing, not height, troubles Turner's women.(Clinical Rounds)
Author: Michele G. Sullivan
Publication: Pediatric News (Magazine/Journal)
Date: February 1, 2005
Publisher: International Medical News Group
Volume: 39Issue: 2Page: 24(1)

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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 Down, Syndrome 47,xyy, Syndrome de Klinefelter, Syndrome de Turner, Trisomie, Aneuploïdie, Chromosome de Philadelphie, Trisomie 13, Syndrome Triple X, Syndrome de Wolf-Hirschhorn, Syndrome Homme Xx, Polyploïde, Disomie Uniparentale, Monosomie, Aneusomie, Déformation de Madelung, Nullosomie, Chromosome 14 En Anneau, Bradycéphalie, Syndrome D'edwards, Syndrome de Bartholin-Patau, Syndrome de Patau, Trisomie D. Non illustré. Mises à jour gratuites en ligne. Extrait : Le syndrome de Down, aussi appelé trisomie 21, est une maladie chromosomique congénitale provoquée par la présence d'un chromosome surnuméraire pour la 21 paire. Ses signes cliniques sont très nets, on observe un retard cognitif, associé à des modifications morphologiques particulières. C'est l'une des maladies transmises génétiquement les plus communes, avec une prévalence de 9,2 pour 10 000 naissances vivantes, aux USA. L'incidence est d'environ 1 pour 800 naissances, toutes grossesses confondues et varie en fonction de l'âge de la mère : environ 1/1500 à 20 ans, 1/900 à 30 ans et 1/100 à 40 ans. L'un des traits les plus notables est le déficit du développement cognitif, mais aussi un ensemble varié d'autres malformations congénitales comme des cardiopathies. Le QI des enfants atteints de syndrome de Down est extrêmement variable. Près de 30 % des patients souffrent de complications dites « orthopédiques » imposant l'hospitalisation et le pourcentage (hanches) devrait croître au prorata de l'allongement de l'espérance de vie de tous. Les anomalies musculo-squelettiques sont volontiers source de complications, luxations, dysplasie acétabulaire, instabilité articulaire. John Langdon Haydon DownLe médecin britannique John Langdon Down (1828-1896) pu...http://booksllc.net/?l=fr ... Read more

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The article is excerpted fromGale Encyclopedia of Alternative Medicine.
"Gale's products are known to be thorough, well-researched, and good reference tools.This item is no exception...
This is a valuable resource for readers who are seeking information oncomplementary medicine and herbal remedies. The scope of thisencyclopedia is comprehensive, but not definitive. Readers should usethis as a supplement,.to professional healthcare consultation. Thissource has been a long-awaited product for the consolidation of generalalternative medicine information."
-- ARBA (2002)

Informationon recommended therapies for specific disorders and diseases, medicinaluses for plants and herbs are balanced by conclusions of studies onefficacy and analysis of current levels of acceptance by traditionalscientists and doctors. Biographies of pioneers in the field --including Deepak Chopra, Edward Bach and David Palmer --appear assidebars through the text. Included are 39 sidebars. Each volumecontains a color photo insert containing images of herbs. There aremore than 275 disease/condition entries, 300 herb/remedy entries, and150 therapies. ... Read more

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The term “Alternative Medicine” encompasses many forms, and elicits at least as many opinions. This authoritative, objective set is in tune with the subjects that matter to students and researchers, presenting four volumes of current, unbiased information on alternative and complementary medical practices. Covering all aspects of the subject—Therapies, Conditions/Diseases, Herbs/Plants and People—the “Gale Encyclopedia of Alternative Medicine” identifies 150 types of alternative medicine being practiced today, including reflexology, acupressure, acupuncture, chelation therapy, kinesiology, yoga, chiropractic, Feldenkrais, polarity therapy, detoxification, naturopathy, Chinese medicine, biofeedback, Ayurveda and osteopathy. For the practitioner or interested patient, there are current training requirements, listings of organizations, as well as descriptions of treatments.