Including 'Work as a Treatment Goal' in the Care for Patients with Chronic Diseases : The Development of a Generic Care Model-A Descriptive Study.

Background: The Netherlands faces 60% prevalence of chronic conditions by 2040, impacting societal participation and quality of life. Current clinical care inadequately addresses these consequences, and most hospitals do not integrate occupational health in their care.

Objectives: To develop a generic person- and work-oriented medical care model (WMCM) based on real life experiences with work-oriented care and supporting the chronically ill in active societal participation.

Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child.

Background: Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis. The X-linked recessive form of HED, also known as Christ-Siemens-Touraine syndrome, is the most frequent and widely documented form. A clinically identical autosomal recessive form of HED has also been described.

Phosphoglucose isomerase (PGI) variants in the Netherlands.

Six hundred individuals of pure Dutch ancestry have been typed for their erythrocyte phosphoglucose isomerase phenotypes by starch gel and cellulose acetate electrophoresis. In two individuals a variant phenotype was discovered. One phenotype was found to be indistinguishable from PGI-Phillips.

Characterization of adenosine deaminase isozymes from normal human erythrocytes.

Adenosine deaminase of phenotype ADA was partially purified by chromatography on CM-Sephadex C-50 and ammonium sulphate precipitation. With DEAE-Sephadex A-50 three isozymes could be detected. a.

A new variant of glucosephosphate isomerase deficiency.

A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient.