Results 171 to 180 of about 7,368 (202)

Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study

Blood
Introduction: Shwachman Diamond syndrome (SDS) is a genetic bone marrow failure syndrome associated with a predisposition to developing myeloid malignancies. Survival is exceptionally poor for patients who develop MDS or AML.
Kasiani C Myers, Jie He, Ben Goldberg, Christopher R Reilly, Yang Wan, Xiaofan Zhu, S. Cesaro, Marco Cipolli, A. Bertuch, Candelaria O'Farrell, Kenichiro Watanabe, A. Kattamis, Polyxeni Delaporta, M. Cotter, Eoghan Dunlea, Taizo A Nakano, A. Geddis, K. Brundige, Ian Atkinson, Katherine Coyne, S. Loveless, Leah Cheng, Edie A. Weller, J. Donadieu, Akiko Shimamura   +24 more
semanticscholar   +1 more source

Significance of clinical and laboratory manifestations in the diagnosis of Shwachman–Diamond syndrome in children

Voprosy detskoj dietologii
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder caused by pathogenic variants in the SBDS gene and characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, growth delay, and skeletal abnormalities. Objective.
M. Ipatova, P. V. Shumilov
semanticscholar   +1 more source

Liver disease in shwachman-diamond syndrome: A report from the shwachman-diamond syndrome registry

Blood
Background: Shwachman-Diamond Syndrome (SDS) is a ribosomopathy marked by marrow failure, exocrine pancreatic dysfunction, and leukemia predisposition.
Jane Koo, Meghan Haney, Diana Schwarz, Jaeson Kim, Lois Schwarz, Sarah K Steltz, Elizabeth Korn, Leah Cheng, S. Loveless, Richard Cooper, C. Dusa, Adam C. Lane, Juan Putra, Akiko Shimamura, Kasiani C Myers, Amit Grover, Andrew Wehrman   +16 more
semanticscholar   +1 more source

Haematological abnormalities in Shwachman‐Diamond syndrome

British Journal of Haematology, 1996
We have analysed the haematological parameters in 21 patients with Shwachman‐Diamond syndrome (SDS) seen over a 25‐year period at our institution. Neutropenia, although present in all patients, was intermittent in two‐thirds, constant in the rest and was associated with impaired chemotaxis in all of those patients tested.
O P, Smith, I M, Hann, J M, Chessells, B R, Reeves, P, Milla   +4 more
openaire   +2 more sources

A Rare Case of Shwachman-Diamond Syndrome: Diagnostic Challenges and Management

American Journal of Pediatrics
Background: Rare inherited bone marrow failure syndromes pose significant diagnostic challenges in pediatric practice due to their variable and overlapping clinical presentations.
Xinyi Xu, Yihui Huang
semanticscholar   +1 more source

Shwachman-Diamond syndrome: a case report

Annales de biologie clinique, 2018
Shwachman-Diamond syndrome is a constitutional disorder characterized by exocrine pancreatic failure and neutropenia with dysgranulopoiesis. It is a rare disease, with less than 100 cases reported in France. Here we report the case of a 23-year-old woman with this syndrome.
Mohamed, Kaabar, Pierre, Lemaire, Vincent, Cussac, Anne, Besancon, Dominique, Martin-Coignard, Odile, Fenneteau, Kamel, Laribi, Fabienne, Pineau-Vincent   +7 more
openaire   +2 more sources

Being an adult with shwachman diamond syndrome- an analysis of 36 german patients registered in the severe chronic neutropenia international registry/SDS-registry europe

Blood
Background Shwachman-Diamond Syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure with a variable clinical phenotype and an increased risk for secondary hematological malignancy.
S. Mellor‐Heineke, Julia Skokowa, Sevda Kedah, Karl Welte, C. Zeidler   +4 more
semanticscholar   +1 more source

Shwachman-Diamond Syndrome: Clinical Phenotypes

Pancreatology, 2001
The clinical phenotype of Shwachman-Diamond syndrome (SDS) is extremely heterogeneous, showing a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, haematologic abnormality and growth retardation.
openaire   +2 more sources

The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome

Blood, 2015
Abstract Shwachman-Diamond syndrome (SDS) is an inherited marrow failure syndrome associated with exocrine pancreatic dysfunction and an increased risk of myelodysplasia and leukemia. The majority of individuals with SDS carry biallelic SBDS gene mutations, however a subset of patients remain genetically undefined.
Kasiani C. Myers, Audrey Anna Bolyard, Jamie Leung, Joan Moore, Sara Loveless, Leann Mount, Richard E. Harris, Stella M. Davies, Sioban Keel, David C. Dale, Akiko Shimamura   +10 more
openaire   +1 more source

Low hematologic event-free survival with age in shwachman-diamond syndrome

Blood
Background: Shwachman Diamond syndrome (SDS) is characterized by bone marrow failure (BMF) and an increased risk of myeloid and lymphoid malignancies.
Kasiani C Myers, J. Donadieu, Ben Goldberg, Manon Delafoy, C. Zeidler, Yang Wan, Xiaofan Zhu, S. Cesaro, Marco Cipolli, Kenichiro Watanabe, Lucy Fox, Caroline Rutten, Taco W. Kuijpers, A. Kattamis, Polyxeni Delaporta, U. Wartiovaara-Kautto, O. Kilpivaara, Alison Bertuch, Candelaria O'Farrell, M. Cotter, Eoghan Dunlea, Christopher Reilly, Taizo A Nakano, Alan J Warren, Amy Geddis, Edie A. Weller, Akiko Shimamura   +26 more
semanticscholar   +1 more source