11q-deletionssyndromet - Små Och Mindre Kända Handikappgrupper Databasreferenser. OMIM (Online Mendelian Inheritance in Man). Internetadresswww3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM. Sökord jacobsen syndrome http://www.sos.se/smkh/1998-29-056/1998-29-056.htm
Extractions: HTML-version: 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Symtom Praktiska tips Resurspersoner Docent Elisabeth Blennow, Kliniskt genetiska avdelningen, Karolinska Universitetssjukhuset, Solna, 171 76 Stockholm, tel 08-517 753 80, fax 08-32 77 34. Kurser, erfarenhetsutbyte, rekreation
Community Connections > Disabilities > About > Jacobsen's Syndrome Disabilities Home About jacobsen s syndrome. Overview jacobsen s syndrome (11qDeletion or 11q) is a rare chrome disorder in which a portion of the 11th http://www.arcofkingcounty.org/guide/disabilities/about/jacobsens/
Extractions: Jacobsen's Syndrome (11q Deletion or 11q-) is a rare chrome disorder in which a portion of the 11th chromosome is missing. It affects about one in every 100,000 births. People who have this disorder may have heart problems, speech and language problems, specific facial characteristics, and mild to severe mental retardation, although many children with Jacobsen's are extremely capable. Children who have Jacobsen's Syndrome may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. They often have ptosis (droopy eyes) and a broad bridge between the eyes, can have problems with kidneys, heart, (ear-)infections and blood platelets. The mental level differs: there are children with mild till severe mental handicaps. This depends probably of length and place of the missing piece of the chromosome. Diagnosis If you or someone else thinks your child may be delayed, it is important to seek an assessment at as young an age as possible. Children with Jacobsen's Syndrome and other developmental delays may benefit from early intervention services, therapies, educational interventions and other support services that may require a diagnosis in order to be eligible for those services.
The DRM WebWatcher: Jacobsen's Syndrome A Disability Resources Monthly guide to Internet resources about jacobsen s syndrome. http://www.disabilityresources.org/JACOBSENS.html
Jacobsen, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/jacobsen.html
Extractions: La délétion de la bande terminale du chromosome 11q (également appelée « syndrome de Jacobsen ») correspond à un ensemble de malformations caractéristiques, provoquées par une monosomie partielle du chromosome 11q. Les points de cassure sont, en général, observés en 11q23.3, certaines délétions s'étendant jusqu'au télomère. Plus de 150 cas ont été rapportés dans la littérature, 110 d'entre eux étant inclus dans une seule et même étude prospective. La délétion, de taille variable, donne lieu à plusieurs phénotypes de gravité variable, comprenant des dysmorphies multiples, des anomalies cardiaques congénitales et une thrombocytopénie de Paris-Trousseau Mise à jour : 04/09/2005 Accès à la base de données Orphanet
Online And Offline Support: J Please note Children, teens, and adults with jacobsen s syndrome have facialanomalies that People served Parents of children with jacobsen s syndrome http://www.widesmiles.org/support/j.html
Extractions: J Jacobsen's Syndrome (11q-) Please note: Children, teens, and adults with Jacobsen's Syndrome have facial anomalies that do not require reconstructive surgery. Chromosome 11q Network (Europe) 11q Research and Resource Group (United States) Joubert Syndrome Joubert Syndrome Parents-in-Touch Network Please note: Cleft palate can occur with Joubert Syndrome. Back to Wide Smiles' Online and Offline Support and Information Page
Extractions: Reye Syndrome is an extremely rare, non-contagious disease thought to be triggered by aspirin use. The actual origin of the disease is unknown. Reye's Syndrome, occasionally called Reye-Jacobsen's Syndrome, is known to follow any viral infection. Two of the most common viral infections it precedes is influenza, "the flu", and chicken pox. A now-familiar warning on bottles of aspirin, most notably Tylenol, is not to give Tylenol to a child who is recovering from the chicken pox, a fever, or any other viral infection. Depending upon the severity of the illness, the recovery periods will vary from case to case. The younger a child, the longer the recovery period, which can last anywhere from two weeks to three months. When a patient has contracted Reye's syndrome after having the chicken pox or influenza, as opposed to a common cold or other viral infection, the recovery period is substantially lengthened. New and groundbreaking research for the link between aspirin and Reye's Syndrome is now underway in places such as Johns Hopkins University, the Mayo Clinic, and The California Center for Disease Control, or CCDC. The CCDC has come up with a theory that is becoming more and more widely accepted. A possible link, they claim, is the chemical effects of aspirin on the brain. While reducing fever and pain, aspirin may, they hypothesize, cause the body to release endorphins that can trigger the onset of Reye's Syndrome. Another probable theory has been introduced by scientists at the Mayo Clinic. Aspirin, they theorize, lowers the body's immunity to certain micro-organisms that may cause the beginning of Reye Syndrome.
OBGYN.net - Posterior Urethral Valve Syndrome - T. Jacobsen Physician reviewed site offering medical professionals and women, the latest newsand information on urinary incontinence. http://www.obgyn.net/urogyn/urogyn.asp?page=/english/pubs/features/presentations
Clinical Child Psychology And Psychiatry -- Sign In Page of the Principles of Psychotherapy with Aspergers syndrome. Paula jacobsen People with Apsergers syndrome understand and respond to the world in a http://ccp.sagepub.com/cgi/content/refs/9/4/567
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Extractions: Vol. 120 No. 4, April 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Jacobsen FK Jensen NK Contact me when this article is cited F. K. Jacobsen, N. Abildtrup, S. O. Laursen, F. Brandrup and N. K. Jensen A 63-year-old man had acrokeratosis paraneoplastica (Bazex' syndrome) characterized by violaceous erythema and scaling of the fingers, toes, nose, and aural helices. Severe nail dystrophy was present. Extensive examination of the patient for malignant neoplasms a few months after the initial appearance of the skin changes disclosed no abnormalities, but one year after onset, an epidermoid carcinoma of the lung was found.
MUMS List Of Disorders - I - J jacobsen s syndrome (7)*; JarchoLevin syndrome (Spondylothoracic Dysplasia) (2);Jaundice (25); Jaundice, Chronic Undiagnosed (1); Jaundice, Untreated (2) http://www.netnet.net/mums/mum_i-j.htm
Extractions: indicates there is a support group which covers that diagnosis. I-Cell Disease (Mucolipidosis Type II) (8) * IGA Deficiency (8)* IGA Linear Bollos Dermatitis (1) IGA Nephropathy (1)* IGG Deficiency (1)* IGG Subclass Deficiency (2) * IGG2 Deficiency (1)* Ichthyosis (14) ** Ichthyosis Linear Circumflexa (Netherton ) (3) Ichthyosis, Collodian Membrane (ichthyosiform Erthrodermia) (2) * Ichthyosis, Epidermolytic Hyperkeratosis (4) * Ichthyosis, Lamellar (7) * Ichthyosis, Netherton Syndrome (3) * Ichthyosis, Sjogren Larsson Syndrome (1)* Ichthyosis, X-Linked (1) * Ideopathic Systemic Capillary Leak Syndrome (1) Idiopathic Hypertrophic Subaortic Stenosis (IHSS) (3) * Idiopathic Thrombocytopenia Purpura (ITP) (19)** Ileostomy (7) Immeyer's Association (1) Immotile Cilia Syndrome (Kartagener) (15) Immune Deficiency (151) * Immune Deficiency, Subclass 3 Level Low C4 Compliment (1) Immunoglobin Type A Deficiency (1) Immunodeficiency, Agranulocytosis Kostmann Type (3)
Extractions: Denmark 35 years is a long time for a human being. It is about half his life. Starting out at 22 making films as an amateur and idealist shooting films with friends and foe, going to festivals and sometimes winning that is fun. Turn it into a professional career and you begin to stack your tins. You continue to do that and it become part of your life that follows you as your luggage does when travelling. You tend to forget you have a collection because a lot of what you have done has already become history a few moments after it was screened for the first time and then forgotten. Film as luggage is fragile and conditions of storage less than ideal. They are still in the same tin and sometime the tin is rusty outside, sometimes inside and you never have the guts or time to open the tins. Then one day you pull yourself together and begin to open tins. You could say you were forced to do so because it is part of your next 35 years, and trust me 35 years is the onset point for the vinegar syndrome. As my life slid towards new opportunities in the seventies, the trend was to serve film libraries with film spools and cans; in the eighties, with the introduction of video distribution, I moved on to film storage; and the nineties towards preservation and observation of the problems that started more than 35 years ago. It seemed a unique opportunity to take your collection apart and see what the state of the art was.
Buttonwood | China Syndrome | Economist.com China syndrome. Jun 28th 2005 From The Economist Global Agenda The SocialScience Network publishes an abstract of Ben jacobsen s paper Striking Oil http://economist.com/finance/displayStory.cfm?story_id=4125583
Extractions: (Find a Page) About CDO Advisory Board Ask the Doctor Brochure Contact CDO Angels Donation Form Executive Board Feedback Form Guestbook Home Inspirational Intro to Chromosomes Join Library Membership NICU Please help Registered Disorders Renewal Form Research Resource Links Volunteer PRINT AND MAIL APPLICATION FORM Please print and return this form and your fees to: Chromosome Deletion Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 To submit electronically please click here Child's name and date of birth: Your names (s) and mailing address:
Extractions: @import url("/jkp.css"); Search the JKP website categories new coming soon inspection copies ... download catalogues BIC: VFPD JDGL JCD MMJT description contents Paula Jacobsen Autism and Asperger Syndrome Psychotherapy and Psychoanalysis Understanding How Asperger Children and Adolescents Think and Learn: Creating Manageable Environments for AS Students
Cloustons Fisherjacobsen-Clouston s syndrome (also known as Clouston s syndrome). L.Stefan Levin, DDS, MSD. When most people think of the ectodermal dysplasias, http://www.nfed.org/Cloustons.htm
Extractions: Your Donations At Work Fisher-Jacobsen-Clouston's Syndrome (also known as Clouston's Syndrome) L. Stefan Levin, DDS, MSD When most people think of the ectodermal dysplasias, they think of people who don't sweat. However, many individuals with an ectodermal dysplasia syndrome have no problem with sweating. One of the conditions in which people tolerate heat well is called the Clouston Syndrome. Clouston is the name of the individual who, in 1929, originally described the disorder in the medical literature. The condition is characterized by thickened, slow growing ridged nails; sparse, fine, brittle hair; thickening (hyperkeratosis) of the palms and soles; darkened skin over joints such as the knees and elbows; and white patches on the soft tissues inside the mouth, specifically the cheeks. In addition, the outer portion of the eyebrows may be thin or absent and the eyelashes may be reduced in number or missing.
James G. White Krishnamurti L, Neglia JP, Nagarajan R, Berry SY, Hirsch B mid White JGParisTrouseau syndrome platelets in a child with jacobsen s syndrome. http://pathology.umn.edu/Faculty/James G_ White.htm
Extractions: E-mail: white003@maroon.tc.umn.edu Platelet physiology and pathology, bleeding disorders, thrombosis and atherosclerosis, vascular injury. Investigations in Dr. White's laboratories are directed toward development of knowledge on blood platelet function in normal hemostasis, the blood platelet's role in the pathogenesis of inherited and acquired bleeding disorders and their contribution to vascular injury, thrombosis and atherosclerosis. Techniques in physiology, biochemistry, pharmacology, immunology, engineering, biophysics, and morphology are combined in a total approach to understanding platelet structure, function, and pathology. Using these and other techniques, White's research team has isolated the circumferential microtubule (MT) supporting the disc-like shape of resting platelets, allowing for the exploration of many aspects of MT function. Platelets exposed simultaneously to detergent extraction and fixation have revealed new information on the nature of their interaction with surfaces and the fate of contractile proteins during platelet aging. White and his colleagues are coupling gold particles to fibrinogen to explore glycoprotein IIb-IIIa receptors on platelets during changes induced by surface and suspension activation. The results have provided a whole new perspective on how cell membranes move in relation to fixed and mobile receptors. Gold particles have also been used to study von Willebrand factor- GPIb/IX complexes and develop new knowledge of this mobile receptor on the platelet surface and characterize their function. This technique also provides a novel means of identifying patients with receptor deficiencies, including patients with thrombasthenia and Bernard-Soulier syndrome.
Discussion Forum Posted on, Wednesday, 13th July 2005. Message. I have a new student withJacobsen s syndrome and wish to learn more about this syndrome http://193.89.241.66/forums/f1/showmessage.asp?messageID=93
Syndrome - J Joubert syndrome Foundation Joubert syndrome (NINDS) http://www.erzwiss.uni-hamburg.de/personal/hoffmann/syndrome/syn-j.html
Re: Resperidal md. my son has jacobson syndrome. he is on this meds because he has no impulsecontrol. could anyone What exactly is jacobson s syndrome ? Terri http://www.rxlist.com/rxboard/risperdal.pl?read=17