81. Shwachman - Diamond Syndrome http://www.shwachman.org/

82. Shwachman-Diamond America Profiles SDA, a nonprofit that educates doctors and families about shwachmandiamond syndrome and also supports research. http://shwachmandiamondamerica.org

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83. Angelica And Gabriel's In-site A story of a case of shwachmanDiamond syndrome and what parents can do. Due to the rarity of the genetic disorder, shwachman-Diamond syndrome SDS, http://users.chariot.net.au/~dna/angelica.html

This site is best viewed at 1024 by 768 monitor screen resolution Only a few days old. What a challenging road this little Angel was to travel. Not because she's mine, but she truly is among one of the most beautiful newborn child that I had ever set my eyes upon! May you light up the WWW with your beauty, Angelica! No flash used when photo was taken ] The First Sound Look of an Angel The Last Sound The Moral of the Story ... If You Made it this far down, then you well deserve a Gift shared from my Heart Here I share my Daughter Angelica's life story. Sharing this here, has helped to close certain doors in my mind, which for some years, were swinging in the wild winds' of life. However, I do hope that this story may help others who come across and take the time to read it here. I would take the opportunely to ask those of you who may be grieving the loss of loved ones, or who may be feeling pain or helplessness due to tragedy, to forward your story on the WWW, or, write it down on paper at least. One may shed tears while recalling wonderful and or painful memories. Reflect upon this, that tears are nature's way of washing away the pain, while the positive attributes shared with those whom you Love and cherish, are reinforced. The First Sound...

84. Katie's Journey Katie has shwachmanDiamond syndrome and needs a bone barrow transplant. Find disease information and links to support organizations. http://www.katiesjourney.50megs.com

Free Web Site Free Web Space and Site Hosting Web Hosting Internet Store and Ecommerce Solution Provider ... High Speed Internet if(window.ivnRotate) window.ivnRotate1 = new window.ivnRotate('ivnRotate1',0,document.awsSearch1.Keywords) Popular Searches: Katie's Journey Katie's Journey Katie's Story About SDS Katie's Transplant ... Catalog Page Meet Katie Katie is 26 months now! She has been Diagnosed with Shwachman diamond syndrome, (SDS). SDS is an extreemly rare, inherrited, bone marrow failure syndrome. Katie had a bone marrow transplant May 25th 2004. She is home and doing well, and started walking December 2nd 2004. My favorite things I love to play with my toys, eat cookies, and cuddle with my mommy. I go to the clinic once every three months now. I am very mobile, I love to play peek-a-boo, pat-a-cake, and I love to dance! I learned to climb, and I love to act like a monkey! SDS affects approximately 5 out of every million live births in the U.S. each year. We appreciate all of the prayers and support from everyone. Katie is now doing very well, she is our survivor!!!

85. Shwachman-Diamond Syndrome Int l network. Founded 1994. Mutual support and information for families affectedby shwachman Diamond http://my.webmd.com/hw/health_guide_atoz/shc29shw.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Shwachman Diamond Syndrome Foundation Shwachman-Diamond Syndrome Shwachman Diamond Syndrome Foundation Int'l network. Founded 1994. WRITE: Shwachman Syndrome Support Int'l. 710 Brassie Drive Grand Junction, CO, 81506 CALL: 1-877-737-4685 (day) FAX: 970-255-8293 E-MAIL: 4sskids@shwachman-diamond.org WEBSITE: http://www.shwachman diamond.org VERIFIED: 10/21/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

86. Shwachman's Syndrome. A Review Of 21 Cases -- Aggett Et Al. 55 (5): 331 -- Archi shwachman s syndrome. A review of 21 cases. PJ Aggett, NP Cavanagh, DJ Matthew,JR Pincott, J Sutcliffe and JT Harries. 21 patients (10 male, http://adc.bmjjournals.com/cgi/content/abstract/archdischild;55/5/331

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Aggett, P. Articles by Harries, J. PAPERS Shwachman's syndrome. A review of 21 cases PJ Aggett, NP Cavanagh, DJ Matthew, JR Pincott, J Sutcliffe and JT Harries 21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient

87. EMedicine - Shwachman-Diamond Syndrome : Article By Antoinette C Spoto-Cannons, shwachmanDiamond syndrome - shwachman-Diamond syndrome (SDS) is a rare congenitaldisorder characterized by pancreatic insufficiency, http://www.emedicine.com/ped/topic2060.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Hematology Shwachman-Diamond Syndrome Last Updated: October 4, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: SDS, bone marrow dysfunction, pancreatic insufficiency, short stature, congenital lipomatosis of pancreas, metaphyseal dysplasia, pancreatic hypoplasia, marrow dysfunction, pancreatic hypoplasia, marrow dysfunction, metaphyseal dysplasia, Shwachman-Bodian syndrome, Shwachman-Diamond-Oski-Knaw syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Antoinette C Spoto-Cannons, MD, FAAP , Director, Undergraduate Children's Health Care Education, Assistant Professor, Department of General Pediatrics, University of South Florida College of Medicine, Tampa General Hospital Coauthor(s): Mudra Kumar, MD, MBBS, MRCP

88. Respiratory Aspects Of Shwachman's Syndrome In Adults -- Wiggins And Geddes 2 (3 shwachman s syndrome is a rare disorder which causes considerable morbidity in Although shwachman s syndrome may be less troublesome in adults than in http://erj.ersjournals.com/cgi/content/abstract/2/3/285

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Order Full text via Infotrieve Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Wiggins, J Articles by Geddes, D. Eur Respir J 1989; 2: 285-288 ERS Journals Ltd Case Studies Respiratory aspects of Shwachman's syndrome in adults J Wiggins and DM Geddes HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS

89. Shwachman-Diamond Support - Clinical Features - Section 1 shwachmanDiamond syndrome, first described in 1964, is a multi-faceted disorderimpacting the pancreas, bone marrow, and skeleton, but other organs may http://www.shwachman-diamondsupport.org/clinical_features.htm

Clinical Features (section 1 of 2) Go to section 2 (The Genetics of Shwachman-Diamond Syndrome) Introduction to Shwachman-Diamond Syndrome Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder. It affects many 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 hematological abnormalities. Many have skeletal abnormalities and short stature. There are a very wide variety of additional complications that can affect some individuals with SDS. It is not known exactly how frequently SDS occurs. Medical researchers estimate that it affects approximately 1 in 50,000 births, but there is no scientific basis for this number because we lack a simple way of establishing the diagnosis. Some physicians think it may be more common than this because certain people with Shwachman syndrome may be misdiagnosed as having something else. Conversely, some people who have been diagnosed as having SDS may not have it. This document presents the various clinical characteristics of Shwachman-Diamond Syndrome sorted into two categories: the primary features (those that are likely a direct result of the genetic fault that causes Shwachman-Diamond Syndrome) and the secondary features (those that are less consistently observed; some may be caused by complications arising from the primary features).

90. What's Shwachman's Syndrome? What s shwachman s syndrome? It is a pathological condition, described for thefirst time by Dr shwachman and by Dr Diamond from Boston in 1964, http://users.libero.it/aiss/Pag1_ing.html

What's Shwachman's syndrome? It is a pathological condition, described for the first time by Dr Shwachman and by Dr Diamond from Boston in 1964, caracterized mainly by ipoplasia of the exocrine pancreas , low height, disorder of medulla ossium and various alterations to the bones. What does it mean? the ipoplasia of the exocrine pancreas indicates a congenital defect about the development of that part of the pancreas that produces the enzymes to digest food. It follows a pancreatic insufficiency and thus an important defect in digestion and food absorption. This defect is inclined to weaken with the years. Low height is present since birth and it is not corrected by any therapy, eventhough the growth has a regular speed. Dysfunctions of medulla ossium are manifold. As a whole there is a scarce development of the medulla, replaced partly by fatty tissue, with consequent scarce production of red corpuscles , blood platelets and the white corpuscles called "granulociti neutrofili", assigned to the defences of front line against the bacteria. The most frequent defect concerns the neutrofili: we talk about neutropenia, that is usually intermittent or cyclic (in other words goes and comes back). Moreover the neutrofili are generally little moving and thus occur with difficulty where there is infection. The scarcity and hypomobility of neutrofili encourage infections, aboove all in a little child: otitis, bronchial pneumonia, osteomyelitis, infections to the cutis, septicaemia.

91. Entrez PubMed shwachman s syndrome is a rare disease characterized by the association of chronicdiarrhea due to e http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

92. Karger Publishers The clinical phenotype of shwachmanDiamond syndrome (SDS) is extremely heterogeneous First International Meeting on shwachman-Diamond syndrome, Verona, http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

93. Classic Neutropenic Syndromes - Neutropenia Support Association Inc. shwachman s syndrome, described in 1964, is characterized by pancreatic insufficiencyand neutropenia. It is transmitted by autosomalrecessive inheritance. http://www.neutropenia.ca/about/classic_syndromes.html

What is Neutropenia Types of Neutropenia Autoimmune Leukopenia Classic Neutropenic Syndromes Chemotherapy and Neutropenia Patient Evaluation and Treatment Living With Neutropenia FAQ Classic Neutropenic Syndromes Biology of Stem Cells and Disorders of Hematopoiesis Infantile Genetic Agranulocytosis (Kostmann's Neutropenia) Initially described in Sweden by R. Kostmann in 1956, infantile genetic agranulocytosis is characterized by severe neutropenia at birth, frequent infections, increased risk of early death, and autosomal-recessive inheritance. This syndrome is one of the severe chronic neutropenic disorders and is mentioned separately only to highlight this well-described clinical entry. The comments regarding treatment and prognosis of severe chronic congenital and idiopathic neutropenias are applicable to Kostmann's neutropenia. Shwachman's Syndrome Neutropenia with Immune Deficits Myelokathexis Intramedullary destruction of neutrophils appears to be the pathophysiologic basis of myelokathexis. Patients demonstrate moderate neutropenia with morphologic abnormality of the neutrophilic nuclei. The circulating neutrophils are notable for their cytoplasmic vacuoles and for very thin nuclear strands connecting the nuclear lobes, while the bone marrow is hyperplastic with many degenerating hypersegmented granulocytes. Cartilage-Hair Hypoplasia Syndrome Short-limbed dwarfism, fine hair, moderate neutropenia, and increased risk of infection characterize cartilage-hair hypoplasia syndrome. This autosomal-recessive disorder is noted most prevalently in the Amish population. Impaired cellular immunity has been noted in some patients. Bone marrow transplantation has been used successfully in at least two patients with this syndrome.

94. Granulopoiesis In Shwachman's Syndrome (pancreatic Insufficiency And Bone Marrow Granulopoiesis was studied in 10 children with shwachman s syndrome (chronic We conclude that in shwachman s syndrome committed granulocytic stem cells http://pediatrics.aappublications.org/cgi/content/abstract/64/4/515

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted 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 Saunders, E. F. Articles by Freedman, M. H. Granulopoiesis in Shwachman's syndrome (pancreatic insufficiency and bone marrow dysfunction) EF Saunders, G Gall and MH Freedman Granulopoiesis was studied in 10 children with Shwachman's syndrome (chronic neutropenia and exocrine pancreatic insufficiency). Marrow proliferative activity assessed by determination of mitotic indices and tritiated thymidine uptake into granulocytic cells was normal. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system demonstrated normal CFU-C numbers in four patients and reduced numbers in five. The granulocyte colonies formed were

95. Shwachman-Diamond Syndrome: An Inherited Preleukemic Bone Marrow Failure Disorde shwachman H, Diamond LK, Oski FA, Khaw KT The syndrome of pancreatic Saunders EF, Gail G, Freedman MH Granulopoiesis in shwachman s syndrome http://www.bloodjournal.org/cgi/content/full/94/9/3048

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Dror, Y. Articles by Freedman, M. H. Related Collections Hematopoiesis Blood, Vol. 94 No. 9 (November 1), 1999: pp. 3048-3054 Shwachman-Diamond Syndrome: An Inherited Preleukemic Bone Marrow Failure Disorder With Aberrant Hematopoietic Progenitors and Faulty Marrow Microenvironment By Yigal Dror and Melvin H. Freedman From the Division of Hematology and Oncology and the Research Institute, The Hospital for Sick Children, and the University of Toronto, Toronto, Ontario, Canada. ABSTRACT TOP ABSTRACT INTRODUCTION MATERIALS AND METHODS RESULTS DISCUSSION REFERENCES Shwachman-Diamond syndrome (SD), an inherited disorder with varying cytopenias and a marked tendency for malignant myeloid transformation, is an important model for understanding genetic

96. Blackwell Synergy - Cookie Absent We report on nine children with shwachman Diamond syndrome (SDS), shwachman -Diamond syndrome (SDS) is a rare autosomal recessive disorder affecting http://www.blackwell-synergy.com/doi/abs/10.1046/j.1365-2141.2002.03940.x

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97. Virtual Children's Hospital: Neonatal Chest: Imaging For Respiratory Distress: S shwachmanDiamond syndrome with short ribs, failure to thrive, and fatmalabsorption (AP view). shwachman-Diamond syndrome. shwachman-Diamond syndrome with http://www.vh.org/pediatric/provider/radiology/respiratorydistress/16.html

Neonatal Chest: Imaging for Respiratory Distress Shwachman-Diamond syndrome Simon C. Kao, M.D. Peer Review Status: Internally Peer Reviewed Shwachman-Diamond syndrome with short ribs, failure to thrive, and fat malabsorption (AP view) Shwachman-Diamond syndrome with short ribs, failure to thrive, and fat malabsorption (Lat view) Next Page Previous Page Title Page This information is written primarily for providers. See related Provider Textbooks about Radiology See related Provider Topics CT Scans Diagnostic Imaging Procedures and Therapies Pulmonary ... Radiology or X-Rays See related Patient Textbooks about Radiology See related Patient Topics Diagnostic Imaging Procedures and Therapies Radiology or X-Rays Virtual Children's Hospital Home Virtual Hospital Home Site Map ... University of Iowa http://www.vh.org/pediatric/provider/radiology/respiratorydistress/16.html

98. Human Pancreatic Elastase Detailed shwachmanDiamond-syndrome is a very rare autosomal recessive hereditary diseasecharacterized by exocrine pancreatic insufficiency in combination with http://www.bioserv-diagnostics.com/gastroenterology/pancreatic_elastase_detailed

Home page up about Bioserv Diagnostics gastroenterology ... biocompatibility testing Details on the determination of human fecal pancreatic Elastase with the BIOSERV ELISA FDA-registered The fecal Elastase ELISA from BIOSERV Diagnostics is used for the diagnosis of a pancreatic insufficiency, which may be caused by Chronic Pancreatitis, Cystic Fibrosis, Diabetes mellitus, Shwachman Syndrome and other ailments EU registration number DE/CA80/7.001 FDA registration: owner/operator number 9056861, registration number 3003594692 For further information please send us an e-mail: info@bioserv-diagnostics.com Advantages of the BIOSERV ELISA kit for the detecti on of fecal pancreatic elastase in stool p olyclonal antibodies raised against synthetized specific sequences of the human pancreatic Elastase h igh sensitivity and specificity m inimum of strain for patients due to non invasive diagnosis Principle of the test S andwich-ELISA with polyclonal antibodies directed against defined sequences of human pancreatic elastase. Sample material: stool Medical indications for the application of the test E xocrine pancreatic insufficiency , caused by chronic pancreatitis hereditary pancreatitis autoimmunologically caused pancreatitis pancreatic cancer ... Shwachman syndrome C hronic pancreatitis is a progressing disease causing the original and functional pancreatic parenchyma to degenerate in a gradual sclerotic process. Characteristic features are its symptoms (abdominal pain, steatorrhea, loss of weight), typical morphological changes of the

99. Shwachman-Diamond America shwachmanDiamond America, Charity site dedicated to Funding and promoting researchin all aspects of shwachman-Diamond syndrome (SDS), and to Facilitate http://www.shwachmandiamondamerica.org/

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100. Shwachman's Syndrome And Acute Lymphoblastic Leukaemia shwachman s syndrome and acute lymphoblastic leukaemia. Strevens MJ, LilleymanJS, Williams RB. Abstract. No abstract presently available. http://imsdd.meb.uni-bonn.de/cgi-bin/mycite?ExtRef=MEDL/78236367

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