41. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Conditions shwachman syndrome; Fanconi s Anemia; Dyskeratosis Congenita; Conditions Graft Versus Host Disease; Neutropenia; shwachman syndrome; http://www.clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/az/S

42. Entrez PubMed Treatment of shwachman syndrome by Japanese herbal medicine (Juzentaiho-to)stimulatory effects of its fatty acids on hemopoiesis in patients. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

43. The Pediatric Infectious Disease Journal - UserLogin shwachman syndrome exocrine pancreatic dysfunction and variable phenotypic shwachman syndrome phenotypic manifestations of sibling sets and isolated http://www.pidj.com/pt/re/pidj/fulltext.00006454-200502000-00018.htm

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44. Journal Of Pediatric Hematology Oncology - UserLogin Haematological abnormalities in ShwachmanDiamond syndrome. Isochromosome (7)(q10)in shwachman syndrome without MDS/AML and role of chromosome 7 http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200306000-00018.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt02 Release 4.0

45. Journal Of Pediatric Gastroenterology And Nutrition - Fulltext: Volume 28(4) Apr Increased Spontaneous Chromosomal Breakage in shwachman syndrome Shwachmansyndrome is a familial condition characterized by pancreatic insufficiency, http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-199904000-00020.htm

46. Journal Of Pediatric Gastroenterology And Nutrition - UserLogin ShwachmanDiamond syndrome (SDS) a rare autosomal recessive disorder described Shuwachman syndrome shwachman syndrome phenotypic manifestations of http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200507000-00021.htm

47. Chromosome 7 Clinical Table ISOCHROMOSOMES (Non Malignant) 46, XX 30 at transplant, ShwachmanDiamond syndrome, neutropenia 46, XX,i(7)(q10) 30Dec/02/9 7, shwachman syndrome, exocrine pancreatic http://www.chr7.org/clinical.php?breaktype=ISOCHROMOSOMES&browser=gbrowse&malign

48. Medical Public Affairs- Press Release People with shwachman syndrome often suffer from undernutrition because the Estimates of how many children have shwachman syndrome vary greatly, http://mednewsarchive.wustl.edu/medadmin/PAnews.nsf/0/39522DBAF92F491B86256B2000

Office of Medical Public Affairs, Washington University School of Medicine at Washington University Medical Center, Campus Box 8508, 4444 Forest Park Ave., St. Louis MO 63108-2259, (314) 286-0100 FAX: (314) 286-0199 NEWS Contact: Diane Duke SCHOOL HOSTS FIRST INTERNATIONAL CONFERENCE ON RARE CHILDHOOD DISEASE 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.

49. Genetic Support Groups,alphabetical List S shwachman syndrome Support Group..http//open.entry.com/medical/shwach.html.shwachman syndrome Support International..http//www.xmission.com/~4sskids http://aspin.asu.edu/geneinfo/sg-s.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Alphabetical List of Genetic Support Groups beginning with the letter S Scapuloperoneal Disease Association 610 Navesink Avenue Oceangate, NJ 08740 USA Schizencephaly (Schiz Kids) Listserv http://www.geocities.com/heartland/meadows/7384 Scleroderma Federation http://www.sclerofed.org Scleroderma From A to Z http://www.sclero.org Scleroderma Foundation http://www.scleroderma.org Scleroderma Information Exchange http://hshinc@yahoo.com Scleroderma Resource Foundation http://www.srfcure.org Septo-Optic-Dysplasia Support Group http://members.tripod.com/~roses8 SHARE http://www.nationalshareoffice.com Share and Care Cockayne Syndrome Network http://www.kimbanet.com/~cockayne Short Stature Foundation 4521 Campus Drive #310 Irvine, CA 92715 USA Phone: 1-714-559-7131 Phone: 1-800-243-9273 Fax: 1-714-258-1933 Shwachman Diamond America http://www.shwachmandiamondamerica.org

50. Qango : Health: Diseases And Conditions: S: Shwachman Syndrome shwachman syndrome, all of Qango only this category, Options Help Home Health Diseases and Conditions S shwachman syndrome, Suggest a Site http://www.qango.com/dir/Health/Diseases_and_Conditions/S/Shwachman_Syndrome/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Shwachman Syndrome all of Qango only this category Options Help Home Health ... S > Shwachman Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... S > Shwachman Syndrome Suggest a Site Home Suggest a Site Search ... Login

51. Types Of SCN - Neutropenia Support Association Inc. Severe Neutropenia also occurs in Shwachman s syndrome (Neutropenia Some patientswith shwachman syndrome have developed severe aplastic anemia and http://www.neutropenia.ca/about/types_of_neutropenia.html

What is Neutropenia Types of Neutropenia Autoimmune Leukopenia Classic Neutropenia Syndromes Chemotherapy and Neutropenia Patient Evaluation and Treatment ... FAQ Types of Severe Chronic Neutropenia Information provide below by: E.L. Sievers, D.C. Dale Audrey Anna Bolyard, R.N., B.S., Tammy Cottle, Carole Edards, R.G.N./R.S.C.N. Bsc., Sally Kinsey, M.D., Beate Schwinzer, Ph.D., Cornelia Zeidler, M.D. Severe chronic neutropenia can exist from birth (congenital neutropenia) or cn occur an any time through life (acquired neutropenia). It may develop by itself or as an accompanying symptom of a different underlying disease. The following list gives you examples of the different types of chronic neutropenias. Neutropenias present at birth: Severe congenital neutropenia (Kostmann syndrome) Cyclic neutropenia Metabolic diseases associated with neutropenia Shwachman-Diamond syndrome Glycogen-storage disease type 1b Neutropenias that are acquired during life Idiopathic neutropenia Autoimmune neutropenia Introduction To meet normal physiologic needs, a healthy adult produces roughly 60 billion neutrophils each day. While neutrophils are produced by the bone marrow at a prodigious rate, their blood half-life is short - on the order of approximately 8 hours in a normal individual. Hence, erythrocytes, with a far longer lifespan, vastly outnumber neutrophils by a ratio of about one thousand to one in the peripheral blood. Under normal physiologic conditions, as stable equilibrium exists between marrow neutrophil production and peripheral utilization. When the production of neutrophils by the bone marrow is outspaced by utilization in the periphery, the number of circulating neutrophils in the peripheral blood decreases and Neutropenia results.

52. Congenital Aplastic Anemia Caused By Mutations In The SBDS Gene: A Rare Presenta shwachman syndrome phenotypic manifestations of sibling sets and isolated Aplastic anemia associated with the shwachman syndrome in vivo and in vitro http://pediatrics.aappublications.org/cgi/content/full/114/3/e387

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PEDIATRICS Vol. 114 No. 3 September 2004, pp. e387-e391 (doi:10.1542/peds.2003-0651-F) This Article Abstract Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Kuijpers, T. W. Articles by Hennekam, R. C. M. Related Collections ELECTRONIC ARTICLE Congenital Aplastic Anemia Caused by Mutations in the SBDS Gene: A Rare Presentation of Shwachman-Diamond Syndrome Taco W. Kuijpers, MD, PhD Eline Nannenberg, MD Marielle Alders, MSc Robbert Bredius, MD, PhD and Raoul C. M. Hennekam, MD, PhD Department of Clinical Genetics, Institute for Human Genetics, Academic Medical Center, Amsterdam, Netherlands Leiden University Medical Center, Leiden, Netherlands ABSTRACT TOP ABSTRACT METHODS CLINICAL REPORT DISCUSSION CONCLUSIONS REFERENCES Clinical Findings.

53. Malabsorption Of Flucytosine In A Pediatric Patient With Shwachman Syndrome -- H We describe a case of flucytosine malabsorption in a pediatric patient withshwachman syndrome, a rare disease in the pediatric age group characterized by http://www.theannals.com/cgi/content/abstract/23/10/782

HOME HELP CONTACT US SUBSCRIPTIONS ... CURRENT ISSUE QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: DICP, The Annals of Pharmacotherapy : Vol. 23, No. 10, pp. 782-783. This Article 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 ... [Order Reprint] PubMed PubMed Citation Articles by Harper, K. Articles by Sawyer, W. Research Articles Malabsorption of flucytosine in a pediatric patient with Shwachman syndrome KJ Harper and WT Sawyer The malabsorption of drugs from the gastrointestinal tract in patients with pancreatic insufficiency is not well documented in the literature. We describe a case of flucytosine malabsorption in a pediatric patient with Shwachman syndrome, a rare disease in the pediatric age group characterized by pancreatic insufficiency. A significant increase in serum concentrations of flucytosine was noted when the drug was administered in a lipophilic vehicle, possibly due to enhanced absorption. HOME HELP CONTACT US SUBSCRIPTIONS ... CURRENT ISSUE

54. PHP : Resource Details shwachman syndrome Support Services c/o Joan Mowery We facilitate communicationabout shwachman syndrome By * Linking families through exchange of http://www.php.com/include/agency/agency_item.php?AgencyID=1644&where_keywords=

55. 260400 SHWACHMAN-DIAMOND SYNDROME; SDS ShwachmanDiamond syndrome is characterized primarily by exocrine pancreatic (1999) collected data from 116 families with shwachman syndrome. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:260400] -e

56. Netwd Health Directory: Shwachman Syndrome Information and resources from Netwd health directory shwachman syndrome. http://netwd.com/diseases/genetic-disorders/shwachman-syndrome.html

Netwd Health Directory Shwachman Syndrome The CaF Directory A definition of Shwachman syndrome, its inheritance pattern, pre-natal diagnosing and a support group in the United Kingdom. Katie's Journey Katie has Shwachman-Diamond Syndrome and needs a bone barrow transplant. Find disease information and links to support organizations. NORD: Shwachman Syndrome Offers a general discussion, the synonyms and further resources. Shwachman Syndrome A mothers story to diagnose this disorder before a team of doctors could. Shwachman-Diamond America Profiles SDA, a nonprofit that educates doctors and families about shwachman-diamond syndrome and also supports research. Shwachman-Diamond Syndrome Family/Friends An email list for families, friends, parents and individuals affected by Shwachman-Diamond Syndrome. Shwachman-Diamond Syndrome International 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. Did you know?

57. The Occurrence Of Leukemia In Patients With The Shwachman Syndrome The occurrence of leukemia in patients with the shwachman syndrome. Woods WG,Roloff JS, Lukens JN, et al. Abstract. No abstract presently available. http://www.meb.uni-bonn.de/cgi-bin/mycite?ExtRef=MEDL/81266588

58. Emergence Of An Unusual Bone Marrow Precursor B-Cell Population In Fatal Shwachm shwachman syndrome phenotypic manifestations of sibling sets and isolated shwachman syndrome exocrine pancreatic dysfunction and variable phenotypic http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/0003-998

59. P53 Protein Overexpression In Shwachman-Diamond Syndrome ShwachmanDiamond syndrome meets many of these criteria2 it is a stem cell disorder shwachman syndrome exocrine pancreatic dysfunction and variable http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216

60. New Medicine 1/2003 Vol. 6 [Asphyxiating Thoracic Dysplasia] shwachman syndrome may present at birth with respiratory distress and thorax . Long bones in shwachman syndrome may show some metaphyseal cupping, http://www.borgis.pl/czytelnia/new_med/2003/01/06.php

01-445 Warszawa, ul. E. Cio³ka 11A tel./fax 836 96 69 Wydaj z nami ksi¹¿kê Czytelnia On-Line Aby wydrukowaæ artyku³ kliknij tutaj Asphyxiating thoracic dysplasia JP Masel FRANZCR, FCR , Koz³owski K, FRANZCR Consultant Radiologist Royal Children's Hospital Brisbane Honorary Radiologist, New Children's Hospital, Sydney Summary We describe two children with aspyhyxiating thoracic dysplasia, both whom showed classical radiographic features. The first patient had an asymptomatic clinical course. The second child died soon after the birth. Radiographic appearances of asphyxiating thoracis dystrophy show little variability whereas the clinical course is very versatile. Key words: thoracic dysplasia Introduction Asphyxiating Thoracic Dysplasia (ATD) is a relatively common bone dysplasia occurring in about 1:100.000130.000 births. The major distinctive clinical features are long, narrow thorax, short extremities, short hand, progressive renal disease and hepatic fibrosis (4,5). The major characteristic radiographic findings consist of small thorax, triradiate acetabulum, short tabular bones, and short middle and distal phalanges with cone shaped epiphyses (4, 5). We report two patients ATD, one asymptomatic and one with severe, clinical course and fatal outcome.

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