It has been recently observed that sodium and potassium concentrations in the nails of cases of cystic fibrosis are higher than in those of controls (Kopito and Shwachman, 1964; Kopito et al., 1965). The original method described is complicated and time consuming. The purpose of this study is to present the results obtained with a simpler procedure for the estimation of sodium and potassium in ...

Meconium from babies with cystic fibrosis (CF) has been shown by Green and Shwachman (1968) to contain readily detectable amounts of albumin. Screening for the disease is therefore possible by testing meconium specimens for the presence of albumin with albustix or Boehringer test tape. Any screening procedure, however, requires the availability of reliable methods for checking positive and doub...

Aplastic anemia may be inherited or acquired. The distinction between these lies not in the age of the patient, but in the clinical and laboratory diagnoses. Adult hematologists must consider adult presentations of the inherited disorders, in order to avoid incorrect management of their patients. Physicians for adult patients must also realize that children with inherited disorders now survive ...

Shwachman-Diamond syndrome (SDS; OMIM 260400) results from loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene. It is a multi-system disorder with clinical features of exocrine pancreatic dysfunction, skeletal abnormalities, bone marrow failure and predisposition to leukemic transformation. Although the cellular functions of SBDS are still unclear, its yeast ortholog...

Juvenile Batten disease is an autosomal recessive pediatric neurodegenerative disorder caused by mutations in the CLN3 gene. The CLN3 protein primarily resides in the lysosomal membrane, but its function is unknown. We demonstrate that CLN3 interacts with SBDS, the protein mutated in Shwachman-Bodian-Diamond syndrome patients. We demonstrate that this protein-protein interaction is conserved be...