IV SPECIFIC DISABILITIES (continued) shwachman syndrome. shwachman syndrome Support Services. SMITHMAGENIS SYNDROME.PRISMS Parents Researches Interested in Smith-Magenis Syndrome http://pourhouse.com/ramp/ramp4.htm
Health Info Strevens MJ, Lilleyman JS, Williams RB Shwachman s syndrome and acute lymphoblastic The occurrence of leukemia in patients with the shwachman syndrome. http://www.pamf.org/health/healthinfo/index.cfm?page=article&sgml_id=ncicdr00000
Extractions: Last Modified: Health Professional Version General Information This cancer treatment information summary provides an overview of the prognosis, diagnosis, classification, and treatment of childhood acute lymphoblastic leukemia (ALL). The National Cancer Institute provides the PDQ pediatric cancer treatment information summaries as a public service to increase the availability of evidence-based cancer information to health professionals, patients, and the public. These summaries are updated regularly according to the latest published research findings by an Editorial Board of pediatric oncology specialists. Cancer in children and adolescents is rare. Children and adolescents with cancer should be referred to medical centers that have a multidisciplinary team of cancer specialists with experience treating the cancers that occur during childhood and adolescence. This multidisciplinary team approach incorporates the skills of the primary care physician, pediatric surgical subspecialists, radiation oncologists, pediatric medical oncologists/hematologists, rehabilitation specialists, pediatric nurse specialists, social workers, and others in order to ensure that children receive treatment, supportive care, and rehabilitation that will achieve optimal survival and quality of life. Refer to the PDQ Supportive Care summaries for specific information about supportive care for children and adolescents with cancer.
UpToDate Primary Disorders Of Phagocytic Function Intrinsic disorders of chemotaxis include the hyperIgE syndrome, leukocyteadhesion defects, shwachman syndrome, and syndromes with periodontitis. http://patients.uptodate.com/topic.asp?file=bas_imm/10466
Healthfinder® Shwachman-Diamond Syndrome International - SSS The ShwachmanDiamond Syndrome International (formerly shwachman syndrome Support)is a non-profit group that operates on national and international levels. http://www.healthfinder.gov/orgs/HR2515.htm
Extractions: 970-255-8293 (FAX) The Shwachman-Diamond Syndrome International (formerly Shwachman Syndrome Support) is a non-profit group that operates on national and international levels. The purpose of the organization is to support families dealing with this rare disease, to advocate research, disseminate medical information and raise public awareness. Books, pamphlets and periodicals/newsletters are available. Italian, Dutch and French language materials are also available. There is no charge for items. Patient Advocacy Rare Diseases Schwachman Syndrome Disease Registry Wed Sep 22, 2004
Health Library - 12.42.224.150/library/healthguide/enus/illnesscon Hematologic abnormalities in Shwachman Diamond syndrome lack of shwachman syndrome phenotypic manifestations of sibling sets and isolated casesin a large Aplastic anemia associated with the shwachman syndrome. http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n
Indian Pediatrics - Review Articles shwachman syndrome was described in 1963 by Shwachman(53). A case of Shwachmansyndrome with increased spontaneous chromosome breakage. http://www.indianpediatrics.net/june2000/june-615-625.htm
Extractions: September 2, 1999; Revision accepted: December 24, 1999. d by more than one gene. The diagnosis of these syndromes is made by the characteristic clinical features specific to each disease, but the definitive diagnosis is achieved by laboratory investigations such as cytogenetic, biochemical and molecular methods. The importance of prenatal diagnosis and our experience are discussed in this article. Key-words: Ataxia telangiectasia, Bloom syndrome, Cockayne syndrome, Chromosome instability syndrome, Chromosome breakage, Chromosomal aberrations, DNA repair, Fanconi anemia, Nijmegan breakage syndrome, Trichothiodystrophy, Xeroderma pigmentosum.
Extractions: Vol. 127 No. 2, February 1991 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 Goeteyn M van Suijlekom-Smit LW Contact me when this article is cited M. Goeteyn, A. P. Oranje, V. D. Vuzevski, R. de Groot and L. W. van Suijlekom-Smit
Abstract Chromosome 7 instability and myelodysplasia in shwachman syndrome A significantproportion of patients of shwachman syndrome (SS), an autosomic 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.
Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Reprints/Permissions PubMed PubMed Citation Articles by Hisha, H. Articles by Ikehara, S.
Extractions: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Reprints/Permissions PubMed PubMed Citation Articles by Hisha, H. Articles by Ikehara, S.
Feedback Form is a primary feature of shwachman syndrome and correction of nutritional status and Children with shwachman syndrome may have poorly developed teeth. http://www.shwachmandiamondamerica.org/content/clinical.htm
Extractions: organs in the body but the effects are variable; different people have different symptoms. On the basis of current knowledge, all people with SDS appear to have a pancreatic defect and hematologic abnormalities. Many have skeletal abnormalities and short stature. There are a very wide variety of additional complications that can affect some individuals with SDS.
Shwachman Syndrome Translate this page Questa è una sintesi sulle caratteristiche della Sindrome di Shwachman. I soggetti con la Sindrome di Shwachman hanno una varietà di sintomi. http://web.genie.it/utenti/g/gargano/shwachman.html
Extractions: Il midollo osseo produce diversi tipi di cellule sanguigne. I globuli bianchi combattono le infezioni. I neutrofili sono un tipo di globuli bianchi che hanno la funzione di combattere i batteri. I globuli rossi trasportano ossigeno in ogni parte del corpo. Le cellule che contribuiscono alla coagulazione del sangue si chiamano piastrine. I soggetti con Sindrome di Shwachman hanno il midollo osseo che non funziona sempre in modo corretto.
Haematology/Oncology Research shwachman syndrome Research Fund Cellular Biology of ShwachmanDiamond Syndrome shwachman syndrome Marrow Failure (Co-investigator) CURRENT YEAR $25000 http://www.utoronto.ca/paedadm/research/hofund78.htm
DoXYs - Digestive System Diseases shwachman syndrome. shwachman syndrome OMIM, NCBI (US); shwachman syndromeSupport Page - Western Ontario (CA). Top Doxys Home Back http://www.growing.com/doxys/gastro.html
Informagene - Dizionario Shwachman-Diamond Syndrome Nature Genetics Ginzber H., Shin J., Ellis L. et al shwachman syndrome phenotypic http://www.telethon.it/informagene/dettaglio_malattia.asp?id=49
Kataweb Salute, Per Vivere Bene shwachman syndrome phenotypic manifestationsof sibling sets and isolated cases in a large patient cohort are similar . http://www.kwsalute.kataweb.it/Scheda/0,1056,417,00.html
Maladies Rares, Maladies Orphelines ShwachmanDiamond Syndrome see shwachman syndrome shwachman syndrome Sialic AcidStorage Disease see Mucopolysaccharide Diseases and associated diseases http://www.fmo.easynetonline.net/anciensite/listcaf.html
Shwachman Diamond Syndrome Foundation 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: What is SDSF: Shwachman -Diamond Syndrome Foundation is a national, nonprofit, patient advocacy organization whose goals are to advocate and support research towards a cure and improve medical management of symptoms as well as to link families for emotional support and supply them with the most current medical information available which is provided through the knowledge and cooperation of our professional, medical advisory board. 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. Our Mission: Advocate and support research towards a cure and improve medical management of symptoms Educate the medical community and general public about Shwachman-diamond Syndrome Provide emotional support to patients and their families Link families through medical/family conferences to share experiences and ideas
