Results 11 to 20 of about 7,368 (202)

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features. [PDF]

Pediatr Res, 2022
Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. Biallelic pathogenic variants (PV) in SBDS account for >90% of SDS.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ.   +6 more
europepmc   +2 more sources

Self-beneficial transactional social dynamics for cooperation in Shwachman-Diamond syndrome: a mixed-subject analysis using computational pragmatics. [PDF]

Front Psychol
Background Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder with documented cognitive and behavioral challenges. However, its socio-pragmatic dynamics remain underexplored, particularly in cooperative interactions where social norms and ...
Trognon A, Stortini N, Duman C, Koïdé N, Skupinska E, Altakroury H, Poli A, Mahdar-Recorbet L, Beaupain B, Donadieu J, Musiol M.   +10 more
europepmc   +2 more sources

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.

Blood, 2023
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. The pathobiology of SDS results from impaired ribosome maturation
Reilly CR, Shimamura A.
europepmc   +2 more sources

Incidence of Shwachman-Diamond syndrome [PDF]

Pediatric Blood & Cancer, 2012
No abstract ...
Cannioto Z, Cipolli M, Danesino C, Longoni D, Minelli A, Nicolis E, Pasquali F, Perobelli S, Poli F, Sainati L   +9 more
core   +5 more sources

Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years. [PDF]

Cancers (Basel)
Simple Summary In this study, we drew up the growth charts of Italian patients with Shwachman–Diamond syndrome (SDS) at ages 0 to 18 years. We found that the 50th and 3rd percentiles of weight and height of the pediatric general population correspond to ...
Pegoraro A, Bezzerri V, Tridello G, Brignole C, Lucca F, Pintani E, Danesino C, Cesaro S, Fioredda F, Cipolli M.   +9 more
europepmc   +2 more sources

Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report. [PDF]

World J Hepatol
BACKGROUND Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple organs, primarily the liver. Most patients are diagnosed during infancy or early childhood.
Guo HJ.
europepmc   +2 more sources

Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing. [PDF]

Int J Mol Sci, 2023
Shwachman–Diamond syndrome (SDS) represents one of the most common inherited bone marrow failure syndromes and is mainly caused by SBDS gene mutations. Only supportive treatments are available, with hematopoietic cell transplantation required when marrow
Peretto L, Tonetto E, Maestri I, Bezzerri V, Valli R, Cipolli M, Pinotti M, Balestra D.   +7 more
europepmc   +2 more sources

Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy. [PDF]

Br J Haematol
Shwachman–Diamond syndrome represents a clinically and genetically heterogeneous disorder. We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.(Asn867Asp). Functional
Cario H, Bertrand A, Tan S, Auber B, Erlacher M, Mair EM, von Hardenberg S, Lebrecht D, Revy P, Warren AJ.   +9 more
europepmc   +2 more sources

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells. [PDF]

Br J Haematol, 2023
Shwachman–Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency and skeletal abnormalities. SDS bone marrow haematopoietic progenitors show increased apoptosis and impairment in granulocytic differentiation.
Cipolli M, Boni C, Penzo M, Villa I, Bolamperti S, Baldisseri E, Frattini A, Porta G, Api M, Selicato N, Roccia P, Pollutri D, Marinelli Busilacchi E, Poloni A, Caporelli N, D'Amico G, Pegoraro A, Cesaro S, Oyarbide U, Vella A, Lippi G, Corey SJ, Valli R, Polini A, Bezzerri V.   +24 more
europepmc   +2 more sources

Chemotherapy-induced neutropenia management in a patient with metastatic breast cancer and Shwachman-Diamond syndrome (SDS): a case report. [PDF]

Transl Breast Cancer Res
Background Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome associated with cytopenia and the development of hematologic malignancies.
Morecroft R, Logothetics CN, Tarnawsky SP, Davis AA.   +3 more
europepmc   +2 more sources