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About 303 results

ALLMedicine™ Shwachman-diamond Syndrome Center

Research & Reviews  117 results

Cancer in Inherited Bone Marrow Failure Syndromes
https://clinicaltrials.gov/ct2/show/NCT00027274

May 13th, 2022 - Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic ca...

Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Assoc...
https://doi.org/10.1097/MPH.0000000000002469
Journal of Pediatric Hematology/oncology; Wang NW, Georgara N et. al.

Apr 29th, 2022 - 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 SDS and...

eIF6 rebinding dynamically couples ribosome maturation and translation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943182
Nature Communications; Jaako P, Faille A et. al.

Mar 25th, 2022 - Protein synthesis is a cyclical process consisting of translation initiation, elongation, termination and ribosome recycling. The release factors SBDS and EFL1-both mutated in the leukemia predisposition disorder Shwachman-Diamond syndrome - licen...

Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088415
Pediatric Blood & Cancer; Galletta TJ, Loveless SK et. al.

Mar 8th, 2022 - Because they can experience neutropenia due to bone marrow failure, patients with Shwachman-Diamond syndrome (SDS) carry increased risk for serious infections compared with the general population; however, there has been a paucity of data on the i...

Fludarabine-based Reduced Intensity Conditioning for Allogeneic Hematopoietic Stem Cell...
https://doi.org/10.1097/MPH.0000000000002374
Journal of Pediatric Hematology/oncology; Barhoom D, Mohseni R et. al.

Dec 23rd, 2021 - Bone marrow failure syndrome (BMFS) type 3 is a rare genetic heterogeneous disorder, considered to be one of Inherited BMFSs related to ribosomopathies. It caused by a novel Homozygous variant in DNAJC21 gene, which affects cytoplasmic maturation ...

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Clinicaltrials.gov  1 results

Cancer in Inherited Bone Marrow Failure Syndromes
https://clinicaltrials.gov/ct2/show/NCT00027274

May 13th, 2022 - Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic ca...

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News  2 results

An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly
https://www.medscape.com/viewarticle/558731_6

Sep 12th, 2007 - Discussion Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bone marrow failure, and skeletal abnormalities. It has also been known as "Shwachman syndrome," "Shwachman-Bodian syndr...

An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly
https://www.medscape.com/viewarticle/558731_4

Sep 12th, 2007 - Differential Diagnosis The low stool pancreatic elastase level is consistent with severe exocrine pancreatic insufficiency. Cystic fibrosis, the most common cause of pancreatic insufficiency in children, should be strongly considered, especially i...

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Patient Education  1 results see all →