Management of Gardner–Diamond syndrome with therapeutic plasma exchange
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Apheresis"
DOI: 10.1002/jca.21484
Abstract: Gardner–Diamond syndrome (GDS), also known as autoerythrocyte sensitization syndrome or psychogenic purpura, is an unusual disorder of uncertain etiology and pathophysiology. GDS is characterized by episodes of extensive painful target-shaped bruises. Approximately 100 cases have… read more here.
Keywords: diamond syndrome; gardner diamond; plasma exchange; therapeutic plasma ... See more keywords
Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.01.057
Abstract: Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction. The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. Although… read more here.
Keywords: diamond syndrome; sbds; telomerase; recruitment ... See more keywords
Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?
Sign Up to like & getrecommendations! Published in 2019 at "Clinics and research in hepatology and gastroenterology"
DOI: 10.1016/j.clinre.2019.05.006
Abstract: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency with malabsorption, malnutrition, growth failure and bone marrow failure. Furthermore, duodenal inflammatory enteropathy features may be present. For the first time,… read more here.
Keywords: bowel disease; shwachman diamond; inflammatory bowel; disease ... See more keywords
Oral management in a patient with Gardner-Diamond Syndrome: A case report
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.09.098
Abstract: Highlights • Gardner-Diamond Syndrome is a rare but potentially life-threatening disease.• Oral surgery in Gardner-Diamond Syndrome can induce intraoral-facial skin lesions.• Concomitant systemic manifestations may also arise.• Oral surgery guidelines for Gardner-Diamond syndrome are needed. read more here.
Keywords: diamond syndrome; oral management; gardner diamond; case ... See more keywords
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Advances in Biological Regulation"
DOI: 10.1016/j.jbior.2017.09.002
Abstract: Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that read the genetic… read more here.
Keywords: diamond syndrome; molecular basis; shwachman diamond; basis human ... See more keywords
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1636997
Abstract: We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic… read more here.
Keywords: diamond syndrome; case shwachman; syndrome presented; shwachman diamond ... See more keywords
Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002469
Abstract: Background: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with… read more here.
Keywords: diamond syndrome; ptosis; case; congenital myogenic ... See more keywords
Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006237
Abstract: We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman–Diamond syndrome (SDS) with… read more here.
Keywords: diagnosis; diamond syndrome; shwachman diamond; diagnosis shwachman ... See more keywords
Psychogenic purpura (Gardner‐Diamond syndrome) in a hemodialysis patient
Sign Up to like & getrecommendations! Published in 2021 at "Dermatologic Therapy"
DOI: 10.1111/dth.14789
Abstract: Dear Editor, Psychogenic purpura (Gardner-Diamond syndrome or autoerythrocyte sensitization syndrome) is a rare cutaneous disorder that is frequently observed in adult women with psychiatric disease. The disease is typically characterized by recurrent, painful, and spontaneous… read more here.
Keywords: gardner diamond; hemodialysis patient; diamond syndrome; psychogenic purpura ... See more keywords
Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-114313
Abstract: Background: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) characterized by bone marrow failure and pancreatic insufficiency. Patients with SDS have propensity to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).… read more here.
Keywords: shwachman diamond; diamond syndrome; japan; diamond ... See more keywords
The Shwachman-Diamond Syndrome Registry: Hematologic Complications
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-117582
Abstract: The Shwachman-Diamond Syndrome Registry (SDSR) was established in December 2008 with the goal of understanding the natural history and biology of SDS to improve the lives of people with SDS. The SDSR has enrolled 220… read more here.
Keywords: shwachman diamond; age; diamond syndrome; marrow ... See more keywords