Useful Links SeptoOptic-Dysplasia Support Group, 3398. shwachman syndrome Support International,3453. Shwachman-Diamond America, 3453. Shwachman-Diamond Friends, 3453. http://www.possum.net.au/links.htm
Extractions: Upcoming release - web enabled POSSUM read more... About Find out about the latest version of POSSUM. FAQ Frequently Asked Questions about POSSUM. Order Print an order form and send it to us. Links Discover syndrome web sites using our new list of useful links. Contact Maybe you'd like to tell us what you think about POSSUM, contribute pictures to the POSSUM database, or make some suggestions about how we can improve this website. Useful Links The information listed below is provided for informational purposes only. There is no implied endorsement by POSSUM. POSSUM does not promote or endorse participation in any specific organization. Every effort is made to ensure that the details for each entry are as current as possible. Syndrome Name POSSUM Number Aarskog Syndrome Parents Support Group (USA) Aarskog Syndrome Parents Support Group (UK) Aicardi Syndrome Foundation Alagille Syndrome Alliance ... WAGR/Aniridia Network
Shwachman-Diamond Syndrome What is shwachmanDiamond syndrome? shwachman-Diamond syndrome (SDS) is a rare genetic disorder that occurs in http://www.shwachman.org/
Angelica And Gabriel's In-site Due to the rarity of the disease shwachman Diamond syndrome (SDS), or shwachmansyndrome (SS) when Angel was born, including the lack of knowledge http://users.chariot.net.au/~dna/angelica.html
Extractions: 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 ... SDS Links Here I share my Daughter Angelica's story with the rest of the world. Sharing this has helped to close certain doors in my mind, which for some years were swinging in the wind's of life. Although this story may help others who may come across and take the time to read it here, it has also been helpful for me. I would like to take this opportunely to ask those who may be grieving lost ones, or who may be feeling helpless due to tragedy, to put forth their story on the WWW. One may shed tears as one recalls wonderful and or painful memories of lost ones. Reflect upon tears being nature's way of washing away past negative thoughts and feelings, while reinforcing the positive attributes shared with loved ones in the past. The First Sound The first sound Angelica heard as she came into this world, was the sound of my gentle blowing a stream of warm air from my lips, into her right ear, directly after I expressed a short prayer. It's a way of the Sufi.
Shwachman-Diamond America Profiles SDA, a nonprofit that educates doctors and families about shwachmandiamond syndrome and also supports research. http://shwachmandiamondamerica.org
What's Shwachman's Syndrome? What's shwachman's syndrome? It is a pathological condition, describedfor the first time by Dr shwachman and by Dr Diamond from http://users.libero.it/aiss/Pag1_ing.html
Extractions: 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.
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Hematology 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 , Pediatric Third Year Medical Student Associate Clerkship Director, Assistant Professor, Department of General Pediatrics, University of South Florida College of Medicine, All Children's Hospital Coauthor(s): Mudra Kumar, MD, MBBS, MRCP , Associate Professor, Department of Pediatrics, University of South Florida College of Medicine Antoinette C Spoto-Cannons, MD, FAAP, is a member of the following medical societies:
Arch Pediatr Adolesc Med -- Page Not Found shwachman's syndrome a review of 21 cases. Arch Dis Child. 1980;55331347. shwachman'ssyndrome and acute lymphoblastic leukemia. BMJ. 1978;218. MEDLINE 11. http://archpedi.ama-assn.org/issues/v155n5/ffull/ppc9915-1b.html
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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/
Extractions: 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 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.
Extractions: SCNIR Advocacy Issues Real Life Stories Fundraising ... Links Back To School With Shwachman-Diamond Syndrome By Kelly Bright Fall is just around the corner and soon it will be back to school time. All parents get anxious about their child's first day of school, but when you have a child with such a serious medical disorder like Shwachman-Diamond Syndrome worries and fears arise even more. Listed below are a few helpful hints to ensure a good start for our SDS kids. First, write your child's story in a letter format for the school personnel. I have found that they are more likely to read something that has a personal style. Do this in addition to having a meeting with your child's teacher, school nurse, principal etc. By writing your child's story, you will be giving them something they can refer back to during the school year. It is a good idea to include your child's blood counts and what the range is for children their age. Also, explain pancreatic insufficiency, how it affects your child, and the importance of taking enzymes at the appropriate times. Second, Medic Alert tags are also important. On the back of the tag, our family listed neutropenia, pancreatic insufficiency, and thrombocytopenia. These three medical issues are the most important for our child keeping in mind each individual's condition varies. Then when they call the Medic Alert Foundation (1-800-863-3420) they are given a more detailed explanation of Shwachman-Diamond Syndrome. Along with our child's specialists and their telephone numbers.
IBMFS - Shwachman-Diamond Syndrome shwachmanDiamond syndrome (SD). SD patients have poor food absorption(malabsorption) and low white blood cell counts (neutropenia). http://marrowfailure.cancer.gov/SD.html
Extractions: Other Bone Marrow Failure Syndromes SD patients have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Most patients are diagnosed in infancy. The gene has been located but not yet specifically identified. Males and females are affected equally. What are the major findings on physical examination? Short stature Problems with bones ("metaphyseal dysostosis", a specific finding seen on x-rays). What is the pattern of bone marrow failure? Neutropenia (low white blood count; white cells help the body fight off infection) Anemia (low red blood cell count) may develop (often with large red cells) Low platelet count may develop (platelets are the cells in the blood which help the blood to clot) Aplastic anemia is diagnosed when all 3 types of cells (red cells, white cells and platelets) are abnormally low because the bone marrow is not producing them.
Extractions: TORONTO OFFERS A RICH BLEND OF IDEAS, ART AND CUISINE. You will want to explore the unique cafés and eclectic shops along the streets of its many multicultural neighborhoods. Early summer is a wonderful time to be in Toronto. Take a leisurely stroll through one of its lavish public gardens or a brisk walk along the lake. Visit the world-renowned Metro Zoo or take a boat trip across to Toronto Island from the hotel. The Science Centre, the Royal Ontario Museum and the Art Gallery of Ontario offer excellent exhibits including activities for children. Toronto is also the home to one of the world's largest live theatre scenes. Its diversity makes Toronto an ideal place to hold an international meeting.
Sick Kids Researchers Identify Gene For Shwachman-Diamond Syndrome at The Hospital for Sick Children (HSC) and the University of Toronto (U of T)have identified the gene that is altered in shwachmanDiamond syndrome. http://www.eurekalert.org/pub_releases/2002-12/uot-skr122002.php
Extractions: University of Toronto Researchers at The Hospital for Sick Children (HSC) and the University of Toronto (U of T) have identified the gene that is altered in Shwachman-Diamond syndrome. The researchers studied 250 Shwachman-Diamond syndrome families from around the world and identified two major disease-causing mutations in a gene on chromosome 7. This research is reported in the January issue of the scientific journal Nature Genetics. Shwachman-Diamond syndrome (SDS) is a relatively rare genetic disorder that occurs in approximately one in 50,000 births. SDS affects many organs in the body. Primary features of SDS include a defect in the pancreas that leads to difficulties in digesting food, hematologic (blood) problems with inadequate production of some types of white blood cells, skeletal abnormalities, and short stature. The hematologic problems make people with SDS prone to severe, sometimes fatal infections, and some die from blood complications such as leukemia or bone marrow failure. "The identification of the gene is important because it will allow for accurate diagnosis and screening of Shwachman-Diamond syndrome. It will also help us to determine what goes wrong at the molecular level, and this will open the door to the development of new therapies," said Dr. Johanna Rommens, the study's principal investigator, an HSC senior scientist and associate professor of Molecular and Medical Genetics at U of T.
Shwachman-Diamond Syndrome Canada DIVISION TYPE DEADLINE LIFE (MED RELATED) GRANT (LOI) APR 25, 2002 (LOI) shwachmanDIAMONDSYNDROME CANADA (SDS) Dr. RA Speers, Chair Research Committee http://www.umanitoba.ca/vpresearch/ors/funding/pages/index_qt/rz162d.htm
Extractions: http://www.shwachman.org Research Grants Purpose: To benefit people with this genetic disease. Value: A maximum of $25,000 per year. Maximum term of 3 years, although one and two-year proposals are encouraged. Priority to seed-funding. Sharing of costs with other agencies is encouraged. Application: Complete letters of intent should be sent by mail or by e-mail. Application documents available by e-mail and on the web site. Deadline: letter of intent to be received by April 25, 2002 . (not confirmed for 2003) SHWACHMAN-DIAMOND SYNDROME INTERNATIONAL: Meritorious proposals are accepted at any time (funded a Canadian project in 2000). Areas of particular interestinclude development of diagnostic tests and identification of gene(s) for SDS. Principal investigators, post doctoral fellows or research coordinators may request grant application information by contacting the SDS office. Shwachman-Diamond Syndrome Canada
Shwachman-Diamond Syndrome INCIDENCE, Rare. GEOGRAPHY, shwachmanDiamond syndrome in a Mexican family. IMMUNEDEFECTS, Immune function in patients with shwachman-Diamond syndrome. http://www.thedoctorsdoctor.com/diseases/shwachman-diamond_syndrome.htm
Extractions: Shwachman-Diamond syndrome in a Mexican family. Belkind-Gerson J, Ontiveros-Nevares P, Ocampo-Roosens V, Sandoval-Juarez D. Departamento de Gastroenterologia, Hospital del Nino Morelense Macaria Than de Rivapalacio, Cuernavaca, Morelos, Mexico. Arch Med Res 2001 Jul-Aug;32(4):318-23 Abstract quote Shwachman-Diamond Syndrome (SDS) is an inherited condition with multisystemic abnormalities including pancreatic exocrine dysfunction, neutropenia, short stature, and skeletal abnormalities. In this report, we describe the case of a 14-year-old female with a history of neutropenia, pancreatic exocrine insufficiency and pancreatic endocrine sufficiency, pancreatic lipomatosis (10), and the development of myeloid leukemia. Postmortem examination revealed a high probability of SDS. We also describe the clinical findings in the patient's six siblings, suggesting this as a familial form of SDS. Because the gene(s) responsible for this syndrome have not yet been identified, genetic confirmation is not yet possible. This is the first report in the literature of a Mexican family with probable SDS.
Entrez-PubMed here to read shwachmanDiamond syndrome with exocrine pancreatic dysfunction andbone marrow failure maps to the centromeric region of chromosome 7. Goobie S http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
