Results 21 to 30 of about 7,368 (202)

An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report. [PDF]

Cureus, 2023
Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS).
Reddy T, Kotha R, M A.
europepmc   +2 more sources

Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome. [PDF]

Front Pediatr, 2022
Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure syndrome characterized by exocrine pancreatic insufficiency, bone abnormalities, progressive cytopenia, and predispositions to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
Naviglio S, Grasso AG, Iacono C, Zanella G, Kiren V, Giurici N, Verzegnassi F, Maximova N, Rabusin M.   +8 more
europepmc   +2 more sources

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome. [PDF]

Front Genet
Purpose To investigate the clinical features and genetic mutation spectrum of 18 children with Shwachman-Diamond syndrome (SDS). Methods Data from 18 children with SDS at Shandong University Affiliated Children’s Hospital (Ji’nan Children’s Hospital ...
Wei R, Zhang K, Liu C, Wei X, Jiang Q, Li JA, Huo M, Liu Y, Abdalla M, Du LA, Yang X, Li F.   +11 more
europepmc   +2 more sources

Shwachman-Diamond syndrome

Терапевтический архив, 2014
Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation. Its
L V Vinokurova, E A Dubtsova, N I Iashina, I S Shuliat'ev, Iu V Osipenko   +4 more
doaj   +5 more sources

Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome. [PDF]

Pediatr Blood Cancer, 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 ...
Galletta TJ, Loveless SK, Malsch MM, Shimamura A, Myers KC.   +4 more
europepmc   +2 more sources

Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome. [PDF]

Biomedicines, 2022
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.
Bezzerri V, Lentini L, Api M, Busilacchi EM, Cavalieri V, Pomilio A, Diomede F, Pegoraro A, Cesaro S, Poloni A, Pace A, Trubiani O, Lippi G, Pibiri I, Cipolli M.   +14 more
europepmc   +2 more sources

Hematologically important mutations: Shwachman–Diamond syndrome [PDF]

Blood Cells, Molecules, and Diseases, 2007
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.
Costa, Elísio, Santos, Rosário
core   +5 more sources

A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome. [PDF]

Pediatr Blood Cancer
Shwachman–Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction, bone marrow failure with myeloid dysplasia, and predisposition to acute myeloid leukemia (AML).
LeBlanc FR, Grier DD, Myers KC, Shimamura A, Pommert L.   +4 more
europepmc   +2 more sources

Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms. [PDF]

Cold Spring Harb Mol Case Stud, 2022
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)
Spangenberg MN, Grille S, Simoes C, Dell'Oca N, Boada M, Guillermo C, Raggio V, Spangenberg L.   +7 more
europepmc   +2 more sources

Hematologic complications with age in Shwachman-Diamond syndrome. [PDF]

Blood Adv, 2022
Key Points Severe bone marrow failure was primarily observed in early childhood in children with biallelic SBDS mutations. Absolute neutrophil counts were positively associated with age (P < .0001) in patients with biallelic SBDS mutations.
Furutani E, Liu S, Galvin A, Steltz S, Malsch MM, Loveless SK, Mount L, Larson JH, Queenan K, Bertuch AA, Fleming MD, Gansner JM, Geddis AE, Hanna R, Keel SB, Lau BW, Lipton JM, Lorsbach R, Nakano TA, Vlachos A, Wang WC, Davies SM, Weller E, Myers KC, Shimamura A.   +24 more
europepmc   +2 more sources