Results 21 to 30 of about 2,254,317 (172)

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

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

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

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

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature [PDF]

Children (Basel)
Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML)
Veltra D, Marinakis N, Kotsios I, Delaporta P, Kekou K, Kosma K, Traeger-Synodinos J, Sofocleous C.   +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

A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.

Dis Model Mech
The importance of microtubule stability and microtubule-associated proteins in the etiology of Shwachman−Diamond syndrome (SDS) has been highlighted in recent studies. In one patient with SDS, a novel MAP7D1:c.601C>T, p.R201W variant has been identified.
Kucukvardar S, Karabay A.
europepmc   +2 more sources

Somatic development in children with Shwachman-Diamond syndrome [PDF]

Italian Journal of Pediatrics, 2020
Background Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities.
Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Maja Klaudel-Dreszler, Grzegorz Oracz, Joanna Pawłowska, Mieczysław Szalecki   +5 more
doaj   +2 more sources

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. [PDF]

Blood, 2019
Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that ...
Acevedo-Arozena, Abraham, Beaupain, Blandine, Bellanné-Chantelot, Christine, Bôle-Feysot, Christine, de Villartay, Jean-Pierre, Donadieu, Jean, Ducou le Pointe, Hubert, Faille, Alexandre, Fenneteau, Odile, Fumagalli, Stefano, Hoslin, Angela, Jaako, Pekka, Kannengiesser, Caroline, Kermasson, Laëtitia, Lengline, Etienne, Nitschké, Patrick, Poirée, Maryline, Ranta, Dana, Revy, Patrick, Tan, Shengjiang, Warren, Alan J   +20 more
core   +2 more sources