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
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
Repolarization of HSC attenuates HSCs failure in Shwachman–Diamond syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Leukemia"
DOI: 10.1038/s41375-020-01054-8
Abstract: Shwachman–Diamond syndrome (SDS) is a bone marrow failure (BMF) syndrome associated with an increased risk of myelodysplasia and leukemia. The molecular mechanisms of SDS are not fully understood. We report that primitive hematopoietic cells from… read more here.
Keywords: hsc; shwachman diamond; sds hscs; sds ... 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
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
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Sign Up to like & getrecommendations! Published in 2023 at "Haematologica"
DOI: 10.3324/haematol.2023.282949
Abstract: Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30%, transformation to a myeloid neoplasm occurs. Approximately 90% of patients have biallelic pathogenic variants… read more here.
Keywords: diamond syndromes; syndromes clinical; clinical genetic; genetic biochemical ... See more keywords
Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10040886
Abstract: Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome… read more here.
Keywords: diamond syndrome; translational read; bone marrow; sds ... See more keywords
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13081314
Abstract: Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90%… read more here.
Keywords: diamond syndrome; kmt2a gene; variant; gene ... See more keywords