نتایج جستجو برای: shwachman
تعداد نتایج: 1492 فیلتر نتایج به سال:
Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. It is unknown, however, if loss of SBDS functiona...
STUDY OBJECTIVES Hemoptysis is a common complication in patients with cystic fibrosis (CF). Current approaches to patients with hemoptysis include conservative medical therapy, bronchial artery embolization (BAE), and surgery. We investigated the effectiveness of early BAE on the outcome in patients with minor bleeding. DESIGN, PATIENTS, AND INTERVENTIONS We reviewed the clinical records from...
Shwachman-Diamond syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, multilineage hematopoietic dysfunction, and metaphyseal chondrodysplasia. Bone marrow dysfunction is present in nearly all patients with SDS, with neutropenia being the most common abnormality. The majority of patients with SDS have mutations in the Shwachman Bodian Diamond syndro...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countrie...
I order to study the time-course of myeloperoxidase (MPO) and eosinophil cationic protein (ECP) as parameters for monitoring inflammation in cystic fibrosis (CF), we investigated ten patients during both a 14-day intravenous antibiotic treatment and a corresponding self control. Modified Shwachman-Kulczycki score improved significantly (p < 0.008), C-reactive protein (CRP) levels decreased sign...
OBJECTIVE To assess the quality of life (QoL) of patients with cystic fibrosis (CF) followed at a university referral center for CF. METHODS A cross-sectional study involving application of the Cystic Fibrosis Questionnaire (CFQ) and Shwachman score in CF patients between April of 2008 and June of 2009. RESULTS The sample consisted of 75 patients. The mean age was 12.5 ± 5.1 years (range, 6...
OBJECTIVE To determine which features of incomplete or "nonclassic" forms of cystic fibrosis (CF) are associated with deleterious CF transmembrane conductance regulator gene ( CFTR ) mutations, and to explore other etiologies for features not associated with deleterious CFTR mutations. STUDY DESIGN Clinical features were compared between 57 patients with deleterious mutations in each CFTR and...
Removal of the assembly factor eukaryotic initiation factor 6 (eIF6) is critical for late cytoplasmic maturation of 60S ribosomal subunits. In mammalian cells, the current model posits that eIF6 release is triggered following phosphorylation of Ser 235 by activated protein kinase C. In contrast, genetic studies in yeast indicate a requirement for the ortholog of the SBDS (Shwachman-Bodian-Diamo...
The functional correlation of missense mutations which cause disease remains a challenge to understanding the basis of genetic diseases. This is particularly true for proteins related to diseases for which there are no available three dimensional structures. One such disease is Shwachman Diamond syndrome SDS OMIM 260400, a multi system disease arising from loss of functional mutations. The Homo...
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