The recognition of the electrolyte disturbance in the sweat of patients with fibrocystic disease by Darling, diSant' Agnese, Perera and Andersen (1953) led Shwachman, Leubner and Catzel (1955) to devise a simplified method of obtaining sweat for biochemical assay. In this method the patient is placed in a plastic bag up to the neck and covered with a blanket, the sweat being collected in a weig...

Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS. In the present study, we show that most, but not all, patients classified based on rigorous clinical...

The high sweat electrolyte concentration in cystic fibrosis is most important in the diagnosis of this disease. The method used for its determination should be simple to perform, harmless to the patient, and accurate. The widely-used method of collecting sweat on a filter paper (Shwachman, Leubner, and Catzel, 1955) after pilocarpine iontophoresis (Gibson and Cooke, 1959) fulfils the first two ...

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome sy...

We have prospectively screened our patients with cystic fibrosis for allergic bronchopulmonary aspergillosis. Over a three year period eight patients were identified, an incidence of 5-8%. Patients were clinically weli at the time of diagnosis (Shwachman scores 70-90, Chrispin-Norman chest x ray scores 2-15) and they responded rapidly to treatment with oral prednisolone. There has been little d...

Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosin...

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome syn...

Lead measurementsby direct AAS at 217 nm on a pooled urine sample gave values of 57 pg/i by the method of standard additions. In contrast, dithizone procedures gave values of 15-20 pg/i. Studies demonstrated that various urine salts and organic compoundscontributed to the absorbance at 217 nm. These native urine materials also give a similar absorbancevalue at 220 nm, a line not related to lead...