61. DiGeorge Syndrome . DiGeorgesyndrome occurs about once in every 50,000 live births. It is......digeorge syndrome. Definition digeorge syndrome http://www.chclibrary.org/micromed/00045370.html

Main Search Index Definition Description Causes ... Resources DiGeorge syndrome Definition DiGeorge syndrome, which is also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome, is a birth defect that affects the immune system. (The pharynx is a passage between the mouth and one of the openings of the nasal cavity).The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description DiGeorge syndrome occurs about once in every 50,000 live births. It is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics Cardiac defects, Abnormal facial features, Thymus underdevelopment, Cleft palate, and Hypocalcemia caused by defects in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. DiGeorge syndrome is caused by inheritance of a defective chromosome 22 from the mother in most cases. The third and fourth pharyngeal pouches fail to develop normally during the 12th week of

62. Headlines Index TOPICS AT A GLANCE. Delirium; Dementia; Depression; Diabetes; Diarrhea. DiGeorgeSyndrome; Diphtheria; Donor Insemination; Back to top. digeorge syndrome. http://www.canoe.ca/Health/index_d.html

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63. Discarded Thymus Tissue May Save Lives In Digeorge Syndrome Infants Title Discarded Thymus Tissue May Save Lives In digeorge syndrome Infants URLhttp//www.pslgroup.com/dg/13967E.htm Doctor's Guide October 14, 1999. http://www.docguide.com/dg.nsf/PrintPrint/8BC033D0BCA7CA108525680A00552344

To print: Select File and then Print from your browser's menu Title: Discarded Thymus Tissue May Save Lives In Digeorge Syndrome Infants URL: http://www.pslgroup.com/dg/13967E.htm Doctor's Guide October 14, 1999 DURHAM, N.C. October 14, 1999 Using thymus tissue that is normally thrown away after pediatric heart surgery, physicians at Duke University Medical Center have created a new T cell immune system for two children who would have otherwise died. The children suffered from DiGeorge Syndrome, a rare disorder characterized by either a flawed thymus gland or no thymus at all - as in the case of these two children. To help them, physicians implanted thin strips of thymus tissue into their thighs when they were infants. The children are now 1 ½ and 6 years old and their new gland has provided a normally functioning immune system that requires no long-term drug support or clinical assistance, the researchers reported in the Oct. 14 issue of the New England Journal of Medicine. Even though the tissue was implanted from an unrelated donor, it cannot be rejected in patients who lack a thymus, the researchers said, because it is the thymus that produces immune cells that reject foreign tissue. After the transplant procedure, the new donor thymus tissue in the thighs of these children acted just like their own thymus organ would have. "For these children at least, the transplant was a cure," said the lead investigator, pediatric immunologist Dr. Louise Markert, in an interview. "Early thymus transplantation prior to development of infectious complications can effectively restore immune function in these patients.

64. Di George Syndrome digeorge syndrome. Learn More About It Chat Rooms VeloCardio-FacialSyndrome (VCFS) and DiGeorge Chat Room. Mailing Lists Velo-Cardio http://www.communicationdisorders.net/diGeorgesyndrome.html

diGeorge Syndrome Learn More About It DiGeorge Anomaly From PEDBASE DiGeorge Syndrome From Online Mendelian Inheritance in Man (OMIM) DiGeorge Syndrome Region Cloned From Human Genome News Researchers Release Map of Gene-Rich Chromosome 22 From the National Human Genome Research Institute (NHGRI) Web Sites Chat Rooms Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Chat Room Mailing Lists Velo-Cardio-Facial Syndrome (VCFS) Digest This is a discussion forum for those interested in Velo-Cardio-Facial Syndrome and DiGeorge Syndrome. To join send an e-mail message to: listserv@maelstrom.stjohns.edu In the body of the message type: Subscribe VCFS Your Name *Available in digest form HOME

65. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Immunologic Evaluation in Patients With digeorge syndrome or VelocardiofacialSyndrome. This study is currently recruiting patients. http://www.clinicaltrials.gov/ct/gui/show/NCT00005102?order=5

66. University Of Chicago Researchers Find Cause Of Common Genetic Disorder genetic abnormalities in mice that are responsible for the multiple malformationsassociated with a human disorder called digeorge syndrome, which is the http://www-news.uchicago.edu/releases/01/010301.crkl.shtml

March 1, 2001 Contact: John Easton jeaston@mcis.bsd.uchicago.edu University of Chicago researchers find cause of common genetic disorder Researchers from the University of Chicago, Columbia University and Baylor have separately identified genetic abnormalities in mice that are responsible for the multiple malformations associated with a human disorder called DiGeorge syndrome, which is the second most common genetic cause of heart defects. A team led by Akira Imamato, Ph.D., assistant professor in the Ben May Institute for Cancer Research and the Center for Molecular Oncology at the University of Chicago, found that mice lacking a functional version of gene known as CRKL have multiple defects of the heart, thymus and facial structures. These defects closely resemble DiGeorge syndrome. The other research teams focused on a different gene, called , which regulates other genes that control the development of the blood vessels closest to the heart. Both genes are found in or near a small region of the mouse chromosome 16, which is similar to human chromosome 22. Patients with DiGeorge syndrome often have a small piece missing from chromosome 22. Researchers have long searched for the 30 or so genes that are lost when a portion of that chromosome is missing. These studies appear to pinpoint which of those genes are the key players in the development of this disease.

67. Digeorge Syndrome | Principal Health News . The prevalence of DiGeorgesyndrome, is debated; the estimates range from 14000 to 16395....... digeorge syndrome. Frey, Rebecca J. http://www.principalhealthnews.com/topic/topic100586712

About This Site Registration FAQ Contact Us ... Site Awards You are here: Home Health A to Z Digeorge Syndrome Digeorge Syndrome Frey, Rebecca J. Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition DiGeorge syndrome (also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormal chromosome and affects the baby's immune system. The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description The prevalence of DiGeorge syndrome, is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. DiGeorge syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups. Causes and symptoms DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in DiGeorge syndrome patients. According to a 1999 study, 6% of children with DiGeorge syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy).

68. DiGeorge Syndrome digeorge syndrome. When a person People with digeorge syndrome areusually rather small and may be slow developers. They may have http://www.med.nus.edu.sg/paed/cardiac/syndromes/digeorge.htm

69. Radiology In Ped Emerg Med, Vol 2, Case 2 digeorge syndrome was suspected. Review of his CXR's revealed the absence of a thymicshadow consistent with thymic aplasia (a feature of digeorge syndrome). http://www.hawaii.edu/medicine/pediatrics/pemxray/v2c02.html

Seizure and VSD in 2-month old Infant Radiology Cases in Pediatric Emergency Medicine Volume 2, Case 2 Loren G. Yamamoto, MD, MPH Kapiolani Medical Center For Women And Children University of Hawaii John A. Burns School of Medicine There is cardiomegaly with slightly prominent pulmonary vascularity suggesting a left to right shunt. Compare this CXR to his CXR taken at birth. View CXR at birth. These two normal newborn CXR's show a normal thymus configuration. The upper mediastinum is wider than our DiGeorge patient's CXR. The normal thymus can be very large. It may sometimes protrude to the side exhibiting a "sail sign". The thymus may sometimes be elevated in a pneumomediastinum. The lateral view of the newborn CXR is most important in distinguishing these features. The normal newborn CXR will have the space anterior to the heart filled by the thymus. View normal lateral CXR. The arrows indicate a space anterior and superior to the heart. In adults, this space should be filled with lung tissue (lucent). Obliteration of this space in an adult indicates the presence of right ventricular enlargement or a mediastinal mass. In newborns, this space should be filled with a tissue density (the thymus). If this space is filled with air, it is indicative of a pneumomediastinum. If this space is filled with lung tissue, it is indicative of thymic aplasia or hypolasia. View DiGeorge patient's lateral CXR. Return to Radiology Cases In Ped Emerg Med Case Selection Page Return to Univ. Hawaii Dept. Pediatrics Home Page

70. ScienceDaily News Release: Researchers Isolate Gene For DiGeorge Syndrome -- The Date 199902-22. Researchers Isolate Gene For digeorge syndrome The Most Common Genetic Cause Of Heart And Facial Birth Defects. http://www.sciencedaily.com/releases/1999/02/990222073627.htm

Search Our Archives Keywords: Order by: date relevance More options Get ad-free access with email updates sign up or log in Text size: A A A Welcome Home page About this site Awards, reviews News Summaries Headlines Topics Shop Our stuff Browse books Magazines Software Contribute Register free Post release Edit profile Review hits Advertise Media kit Traffic stats Contact us Previous Story ... Related Stories Next Story Source: University Of Texas Southwestern Medical Center At Dallas Date: Researchers Isolate Gene For DiGeorge Syndrome The Most Common Genetic Cause Of Heart And Facial Birth Defects DALLAS - February 19, 1999 - Researchers at UT Southwestern Medical Center at Dallas have isolated the gene they believe is responsible for the most common genetic cause of heart and facial birth defects. Scientists have suspected for many years that a gene on chromosome 22 is responsible for these birth defects, but the identification of a single gene that could be involved in cardiac and facial defects has been elusive. In the February 19 issue of Science, Dr. Deepak Srivastava, assistant professor of pediatrics and molecular biology and oncology, and colleagues demonstrate that deletion of part of one gene can cause the variety of anomalies found in children known to be missing a piece of chromosome 22 (22q11). Children with chromosome 22 deletion syndrome, also known as DiGeorge syndrome, can suffer cardiac defects, abnormal facial features, immune deficiencies, cleft palate and low blood calcium. Although the defects seem unrelated to one another, all the affected tissues share a common embryologic origin, suggesting that a single gene may be important for both heart and facial formation.

71. DiGeorge Syndrome : Meddie Health Search (Rating 0.00 Votes 0) Rate It. National Library of Medicine DGS DiGeorgesyndrome, the synonyms, a summary and list of major features. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Di

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : DiGeorge Syndrome ITEMS: LINKS: Dr. Greene's HouseCalls The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. (Rating: 0.00 Votes: 0) Rate It National Library of Medicine: DGS DiGeorge syndrome, the synonyms, a summary and list of major features. (Rating: 0.00 Votes: 0) Rate It NCBI Genes and Diseases An article about DiGeorge syndrome with a description, causes, research and treatment. (Rating: 0.00 Votes: 0) Rate It What is DiGeorge Syndrome? An article about this disease and its symptoms and causes by Page Wise. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

72. NORD - National Organization For Rare Disorders, Inc. digeorge syndrome. To purchase fulltext report ($7.50) Copyright 1986, 1988,1992, 1993, 1996, 1997, 1998, 1999, 2000 Synonyms of digeorge syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=DiGeorge Synd

73. Digeorge Syndrome | Ahealthyme.com You are here Home Health A to Z digeorge syndrome.digeorge syndrome. digeorge syndrome Frey, Rebecca J. http://www.ahealthyme.com/topic/topic100586712

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! You are here: Home Health A to Z Digeorge Syndrome Frey, Rebecca J. Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition DiGeorge syndrome (also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormal chromosome and affects the baby's immune system. The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description The prevalence of DiGeorge syndrome, is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. DiGeorge syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups. Causes and symptoms DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in DiGeorge syndrome patients. According to a 1999 study, 6% of children with DiGeorge syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy).

74. Gene That Helps Blood Vessels Form Linked To Complex Birth Defect Simon J. Conway, developmental biologist at MCG, is a senior author on a paper inNature Medicine identifying a gene that is a key player in digeorge syndrome. http://www.eurekalert.org/pub_releases/2003-02/mcog-gth020503.php

Public release date: 5-Feb-2003 Contact: Toni Baker tbaker@mail.mcg.edu Medical College of Georgia Gene that helps blood vessels form linked to complex birth defect Dr. Simon J. Conway, developmental biologist at MCG, is a senior author on a paper in Nature Medicine identifying a gene that is a key player in DiGeorge syndrome. Full size image available through contact A gene known for its ability to form blood vessels has been found to be a key player in a chromosomal abnormality that causes potentially devastating birth defects in the heart and throughout the body. In a study published in the February 2003 issue of Nature Medicine , a group of collaborators from across the globe reports that abnormalities in vascular endothelial growth factor, or VEGF, is a cause of DiGeorge syndrome. The syndrome can cause a wide range of heart defects, many of which are vascular in nature, as well as problems with the thymus and parathyroid gland, craniofacial abnormalities and mental retardation. "We have found one of the downstream target genes," said Dr. Simon J. Conway, developmental biologist at the Medical College of Georgia and a senior author on the

75. DiGeorge Syndrome - General Practice Notebook medical information from General Practice Notebook. digeorge syndrome.The digeorge syndrome is an example of a selective Tcell deficiency http://www.gpnotebook.co.uk/cache/-1872035835.htm

DiGeorge syndrome The DiGeorge syndrome is an example of a selective T-cell deficiency caused by the failure of development of the third and fourth pharyngeal pouches. These pouches give rise to the following structures: thymus parathyroids aortic arch portions of the lips and ears Consequently, DiGeorge syndrome may present with as immune deficiency state - usually T cells, but sometimes B cells, and also aberrant calcium metabolism, congential heart disease and abnormal facies. Click here for more information...

76. Untitled This one is about digeorge syndrome. Email widesmiles@aol.com Below are severalreferences on digeorge syndrome You can find additional info here as well http://www.widesmiles.org/cleftlinks/WS-583.html

You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org This one is about: DiGeorge Syndrome (c) 1997 Wide Smiles This Document is from WideSmiles Website - www.widesmiles.org Reprint in whole or in part, with out written permission from Wide Smiles is prohibited. Email: widesmiles@aol.com Below are several references on DIGEORGE Syndrome: You can find additional info here as well: Digeorge Syndrome can be located at: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?188400 Information and Support for DiGeorge and Shprintzen Syndrome Families (ISF DSF) DiGeorge Syndrome Shprintzen Syndrome VeloCardioFacial Syndrome 22q11.2 Deletions Address: 27859 Lassen Street; Castaic, CA 91384 Contact person: Natalie Ward, President Phone: 805-294-3623 Founded: 1992 Membership: 100 families This is from the Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/15/94 DIGEORGE ANOMALY http://www.icondata.com/health/pedbase/files/DIGEORGE.HTM (the following is the complete page, no other info on it available here) DEFINITION: A disorder characterized by injury to a developmental field affecting the development of pharyngeal pouches resulting in cardiac, facial, immune, and parathyroid anomalies.

77. DiGeorge Syndrome Often Occurs Following Deletions Of A Region On Chromosome 22 digeorge syndrome often occurs following deletions of a region on chromosome 22.This problem results in a loss of Tcells, but B-cells tend to survive. http://www.med.uiuc.edu/m1/genetics/tutorial11/DevErr/de2c.htm

DiGeorge syndrome often occurs following deletions of a region on chromosome 22. This problem results in a loss of T-cells, but B-cells tend to survive. Since T-cell helpers are required for the class switch, there is some impairment of B-cell function. Bruton's hypogammaglobulinemia is caused by an X-linked recessive mutation, which causes a deficiency of a tyrosine kinase specifically required for B-cell development. Loss of B-cells compromises humoral immunity, although cell-mediated immunity is largely intact. NEXT BACK INDEX

78. Pediatric Cardiology digeorge syndrome. digeorge syndrome is part of a larger syndrome known asVelocardio-facial syndrome (VCFS), Shprintzen syndrome or 22q deletion. http://www.ucch.org/sections/cardio/new/digeorge.html

Sections/Specialties Palos Heights Merrillville La Rabida [Return to main] DiGeorge Syndrome Approximately 10% of patients with 22q deletions have inherited the deletions from a parent who also has the deletion. The parent with the deletion may not have any or very few of the symptoms listed above as the condition is different in each person. If a parent has the deletion, he/she is at 50% risk of passing this deletion on to each of his/her children. The child with a deletion may have few symptoms of the deletion like the parent or may demonstrate all of the symptoms and have many medical complications. Some useful links. http://www.vcfsef.org/ http://www.familyvillage.wisc.edu/lib_vcfs.htm http://www.crosslink.net/~marchett/vcfs/ Table of Contents

79. The Dictionary Of Cell And Molecular Biology - Online! Welcome, new user. digeorge syndrome. Congenital absence of the thymus andparathyroid as a result of which the Tlymphocyte system is absent. http://www.mblab.gla.ac.uk/~julian/dict2.cgi?1849

80. Cook Children's Health Care // 404 Page Not Found     digeorge syndrome. What is digeorge syndrome? cleft lip and/or palate.The name of digeorge syndrome was applied to this group of features. http://www.cookchildrens.com/CC/Ped/diabetes/digeorge.htm

Site Doctors Donate Now Contact Us Home About Cook Children's ... Wish List Testimonials -Stephanie, Cook Children's patient 404 Page Not Found "Four Oh Four." Oops! The page you have requested has moved or is no longer available. Please go to the Cook Children's home page or search our site. [back to top] Related Information Related Physicians Find A Physician Related Pages Find a Physician Find a Service Kids' Health Quiz Which vaccines should infants receive before age 18 months? A Diphteria, Tetanus and pertussis vaccine (DTaP) B Haemophilus influenzae vaccine (Hib) C Pneumococcal vaccine (PCV) D All of the above privacy notice

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