Shwachman-Diamond syndrome is a hereditary disorder characterized by pancreatic insufficiency and bone marrow failure. Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections, due to neutropenia in combination with impaired neutrophil chemotaxis. Currently, the role of the actin cytoskeleton in Shwachman-Diamond syndr...

Twelve children and young adults with Shwachman syndrome were compared with their unaffected siblings and with controls suffering from cystic fibrosis in terms of intellectual ability, motor skills, and behaviour. There were highly significant differences in intelligence quotient between those with Shwachman syndrome and the other two groups. Four of the index subjects but none of the control s...

Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints...

INTRODUCTION The Shwachman-Kulczycki score was the first scoring system used in cystic fibrosis to assess disease severity. Despite its subjectivity, it is still widely used. OBJECTIVE To study correlations among forced expiratory volume in one second (FEV1), chest radiography, chest computed tomography, 6-minute walk test, and Shwachman-Kulczycki score in patients with cystic fibrosis and to...

background cystic fibrosis is a complex progressive disease which assessing its progression and severity is essential. for this purpose there are scoring systems available to evaluate the disease severity. objectives the aim of the present study was to determine the clinical status of cf patients using shwachman score system in the pediatric pulmonary ward of masih daneshvari hospital. patients...

BACKGROUND Diamond-Blackfan anemia and Shwachman-Diamond syndrome are inherited bone marrow failure syndromes linked to defects in ribosome synthesis. The purpose of this study was to determine whether yeast models for Diamond-Blackfan anemia and Shwachman-Diamond syndrome differed in the mechanism by which ribosome synthesis was affected. DESIGN AND METHODS Northern blotting, pulse-chase ana...

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions fo...

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the ...

OBJECTIVE: To verify the role of peak expiratory flow, measured through portable meters, as an alternative test to assess pulmonary disease in cystic fibrosis. METHODS: Forty-nine patients aged five to 19 years old in stable health condition and able to perform the peak expiratory flow maneuver were included. In the same visit, Shwachman-Kulczycki score was recorded. Linear regression was used ...