Health Library - shwachman syndrome. Important It is possible that the main title of the report shwachman syndrome is not the name you expected. Please http://myhealth.barnesjewish.org/library/healthguide/illnessconditions/topic.asp
Abstract ABSTRACT. Chromosome 7 instability and myelodysplasia in shwachman syndrome. MP Cecchini 1 , E Maserati 1 , M Stefanelli 2 , B Crescenzi http://web.feccbologna.it/2_16.htm
Extractions: ABSTRACT Chromosome 7 instability and myelodysplasia in Shwachman syndrome MP Cecchini , E Maserati , M Stefanelli , B Crescenzi , C Matteucci , A Minelli , C Mecucci , F Lo Curto , F Pasquali Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dellInsubria, Varese, Italy Emato-Oncologia Pediatrica, Ospedale Silvestrini, Perugia, Italy Ematologia, Università di Perugia, Perugia, Italy Genetica Medica, Università di Pavia, Pavia, Italy A significant proportion of patients of Shwachman Syndrome (SS), an autosomic recessive disorder, develop a Myelodysplastic Syndrome (MDS) and/or Acute Myeloid Leukaemia (AML). Most of these show typical chromosome changes in the bone marrow (BM), as anomalies of chromosome 7 (isochromosome i(7q) is frequent), and deletion del(20)(q11). We reviewed 8 cases of SS with chromosome 7 anomalies in their BM, and 3 out of 6 cases with del(20)(q11), who did not develop MDS/AML. We report two cases of SS without MDS/AML, with specific clonal BM anomalies, and showing signs of karyotype instability with rearrangements of chromosome 7 in peripheral blood (PB) cells. Case 1: MF, male, born in 1992. Chromosome and FISH analyses on BM consistently showed the isochromosome i(7q) since 1999; different analyses on PB PHA-stimulated cultures showed a small clone with a pericentric inversion of a chromosome 7, in 2000, and cells with different structural rearrangements of the 7, in 2001. Case 2: PM, male, born in 1988. BM chromosome and FISH analyses consistently showed a deletion del (20)(q11), which included the minimal deleted region of MDS, in 2000-2002. PB cultures disclosed one single cell with the isochromosome i(7q), in 2002.
SHWACHMAN SYNDROME Definition Home/S/Sh/shwachman syndrome. Medical Dictionary Search Engine. Advertise on this site! A service of healthlink-net.com. Browse Dictionary Alphabetically. http://www.books.md/S/dic/Shwachmansyndrome.php
Washington University Medical News Louis with their 3 and 4-year-old daughters to attend the first international conference on shwachman syndrome, a rare genetic disorder that causes http://medicine.wustl.edu/~wumpa/news/shwachman.html
Extractions: St. Louis, Aug. 5, 1997 Al and Jenny Jenuwine of Allenton, Mich., will be traveling to St. Louis with their 3- and 4-year-old daughters to attend the first international conference on Shwachman Syndrome, a rare genetic disorder that causes malnutrition and a range of other physical problems in children. Emily and Kelsey Jenuwine are severely affected by the disease. The conference will be held at Washington University School of Medicine from 8 a.m. to 4 p.m. Aug. 8 and 9 in the Eric P. Newman Education Center, 320 S. Euclid Ave. The School of Medicine's Division of Pediatric Gastroenterology and St. Louis-based Shwachman Syndrome Support International are co-sponsoring the conference, which is open to health professionals and Shwachman patients and their families. Physicians and families from six countries, including Australia, will attend, and several prominent researchers will offer presentations. "I look at this conference as a first chance for physicians and families to get together to learn more about this unusual problem," said Robert J. Rothbaum, M.D., associate professor of pediatrics and the conference's program director.
Health Library - shwachman syndrome. Self Help Clearinghouse. Newsletter. Supports research. WRITE shwachman syndrome Support International 5195 Hampsted Village Ctr. http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc
Karger Publishers External Resources 4 Kent A, Murphy GH, Milla P Psychological characteristics of children with shwachman syndrome. Arch Dis Child 1990;6513491352. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
P53 Protein Overexpression In Shwachman-Diamond Syndrome 11571158. p53 Protein Overexpression in ShwachmanDiamond Syndrome. shwachman syndrome exocrine pancreatic dysfunction and variable phenotypic expression. http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216
Searchport II Search Engine: Society shwachman syndrome Support International Formerly shwachman syndrome Intl. Also known as shwachman syndrome, ShwachmanBodian Syndrome Burke Syndrome. http://www.searchport.org/cgi-bin/tsearch/hyper.pl?action=cat&name=Society&amt=1
Blackwell Synergy - Cookie Absent Shwachman s syndrome. shwachman syndrome phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. http://www.blackwell-synergy.com/links/doi/10.1111/j.0009-9163.2004.00198.x/full
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ADC -- Abstracts: Kent Et Al. 65 (12): 1349 PAPERS. Psychological characteristics of children with shwachman syndrome. A Kent, GH Murphy and P Milla Hospital for Sick Children, London. http://adc.bmjjournals.com/cgi/content/abstract/archdischild;65/12/1349
Extractions: Hospital for Sick Children, London. Twelve children and young adults with Shwachman syndrome were compared with their unaffected siblings and with controls suffering from cystic fibrosis in terms of intellectual ability, motor skills, and behaviour. There were highly significant differences in intelligence quotient between those with Shwachman syndrome and the other two groups. Four of the index subjects but none of the control subjects were below the normal range. The differences between groups on other tests of cognitive and motor skills were not significant, though those with Shwachman syndrome tended to have the lowest scores. There was no evidence that those with Shwachman syndrome had more
Nature Publishing Group support from ShwachmanDiamond Syndrome Canada, ShwachmanDiamond Support of Great Britain, The Harrison Wright Appeal, shwachman syndrome Support of http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v33/n1/full/ng1062.h
Health Library - shwachman syndrome. This Newsletter. Supports research. WRITE shwachman syndrome Support International 5195 Hampsted Village Ctr. Way http://healthinfo.carolinas.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc2
Shwachman Diamond Support organization helping the victims of this disease. Provides a network for families to receive information, advocacy, and emotional support, and keep abreast of the most current medical information available. http://www.shwachman-diamond.org/
Extractions: Shwachman-Diamond Syndrome Foundation is a nonprofit support organization helping the victims of this disease. Our primary goals are to link families for emotional support locally, nationally and internationally, and supply them with the most current medical information available. This information is provided through the knowledge and cooperation of our medical advisory board. We are in the forefront of the fight to find a cure for this disease. This organization was founded in 1994 by concerned parents. Our membership is comprised of children and adults with Shwachman-Diamond Syndrome, their parents, families, friends, and concerned medical professionals. We are now offering support to families in seventeen countries from around the world and our membership is growing daily. This is the only official website for Shwachman-Diamond Syndrome Support Foundation. a 501(c)(3) tax exempt organization under U.S. Internal Revenue Code. All medical information on this site is approved by medical advisors. We are not responsible for the accuracy of any medical information on Shwachman-Diamond Syndrome provided by any other website.
Shwachman-Diamond America shwachmanDiamond America, Charity site dedicated to Funding and promoting research in all aspects of shwachman-Diamond syndrome (SDS), and to Facilitate doctors developing a medical management http://www.shwachmandiamondamerica.org/
Shwachman-Diamond America Profiles SDA, a nonprofit that educates doctors and families about shwachmandiamond syndrome and also supports research. http://shwachmandiamondamerica.org
Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition Pronunciation: (SHWAHK-munz sin-drohm) A digestive and respiratory disorder of children. Certain digestive enzymes are missing and white blood cells are few. Symptoms may include diarrhea and short stature.
SHWACHMAN'S SYNDROME - Meaning And Definition Of The Word Search Dictionary shwachman S syndrome Dictionary Entry and Meaning. Medical Dictionary. Definition digestive and respiratory disorder http://www.hyperdictionary.com/medical/shwachman's syndrome
