Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

Eiklid K, Tranebjærg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, Boman H, Berg K. Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients.
Clin Genet 1993: 44: 12–14. © Munksgaard, 1993
We have searched for the ΔF508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the ΔF508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.     

Surface Annexin II on Placental Membranes of the Fetomaternal Interface

PROBLEM: The phospholipidbinding membrane protein annexin II has been demonstrated to possess FcR activity for IgG and has been localized to the outer part of the syncytiotrophoblast cell layer. The question has arisen whether annexin II is exposed on the surface of syncytiotrophoblast cells thus enabling it to take part in the transport of IgG across the maternal barrier. METHOD: Syncytiotrophoblast microvillous plasma membranes were analyzed by flow cytometry for annexin II as well as established surface molecules. Fresh, fixed placental tissue was preincubated with antibodies to annexin II or known trophoblast surface molecules, and analyzed by confocal laser scanning microscopy. RESULTS: Annexin II and its subunit p11 were expressed on the surface of the syncytiotrophoblast microvillous plasma membranes as were other established surface proteins (CD46, CD59, placental alkaline phosphatase), using both flow cytometry and confocal microscopy. Annexin was not detected on the surface of viable cultured trophoblast cells. CONCLUSION: Annexin II is exposed on the surface of syncytiotrophoblast cells as a heterotetramer together with its light chain p11. It is exposed to maternal blood and may be instrumental in IgG transport across the placental barrier by binding     

Antigens Common to Scabies and House Dust Mites

Twenty-five antigens were demonstrated in a crude Dermatophagoides farinae (DF) extract by means of crossed immunoelectrophoresis (CIE), using a rabbit anti-DF serum. With the same antiserum, four antigens were demonstrated in a scabies mite preparation, indicating an immunological relationship between these scabies antigens and some of the DF antigens. In tandem CIE experiments the DF antigens were found to be partly identical to three of the scabies antigens. No IgE activity against any of these scabies antigens was evident in pooled sera from patients with house dust mite allergy by crossed radioimmunoelectrophoresis. However, one such patient had IgE antibodies to a DF antigen and a partial identical scabies antigen.     

Model for the deposition of aerosol particles in the respiratory tract of the rat. I. Nonhygroscopic particle deposition

Rats are used to test the toxicological and pharmacological effects of aerosol particles on the organism. For estimates of the delivered aerosol dose, lung deposition models provide a valuable tool. Here a previously developed deposition model for nonhygroscopic and hygroscopic aerosol particles in the lungs of man (Ferron et al., J. Aerosol Sci. 1988, 19:611) is adapted to the rat by implementing a lung structure for the rat combined with empirical equations for particle deposition due to impaction/sedimentation in the extrathoracic region and in bifurcations. To account for the effect of body weight (BW) on the physiological parameters (lung size, respiration frequency) we present BW-scaling laws with an estimated accuracy of about 16%. The present model shows good agreement with the measured total deposition (per breath) and other models from the literature to within the variability of the experimental data (20% absolute). Our calculations show that the variability of the experimental data is consistent with the combined effects from realistic variations in particle properties (mainly density) and physiological parameters (mainly activity level). For the alveolar region, which is of particular significance for pharmacological and health studies, we show that although the activity level may change the deposited dose by up to a factor of 2.2 for particles between 0.05 and 2.0 microm in diameter, the alveolar dose is almost independent (to within 10%) of activity level for particles between 0.5 and 1 microm, which makes this size range advantageous for pharmacological and toxicological experiments. The present model allows estimates of the total and regional particle dose deposited in the lungs of rats, which are consistent with experimental data. The advantage of the present model is that hygroscopic growth can be included in the calculations.     

Atopic diseases in Sami and Norse schoolchildren living in northern Norway

Among children in the western world, atopic diseases are a major cause of morbidity. However, several prevalence studies have indicated that the frequency of these diseases displays both geographic and ethnic variations. In 1995, we conducted a questionnairebased, crosssectional survey in northern Norway. Atopic diseases among 8676 schoolchildren, aged 713 years, including 491 children with Sami ethnicity, were studied. The role of ethnicity (Sami/white Caucasian) was determined by comparing the reported atopic disease rate in each of the respective groups. In the areas under investigation (the cumulative incidence, the point prevalence of asthma and allergic rhinoconjunctivitis and the cumulative incidence of atopic dermatitis), the Sami children scored higher than the white Caucasian Norwegian children. The relative risks (RR) in Sami children were: current asthma RR = 2.01 [95% confidence interval (CI) 1.482.73]; current allergic rhinoconjunctivitis RR = 1.51 (95% CI 1.141.99); lifetime atopic dermatitis RR = 1.39 (95% CI 1.181.63). We thus conclude that there is an association between Sami ethnicity and asthma and allergy among schoolchildren in northern Norway.     

The Scientific Study of Parents and Caregivers of Children with ASD: A Flourishing Field but Still Work to be Done

There is a long history of research on parents and caregivers of individuals within autism. Parents and other primary caregivers typically play the most important part in the lives of persons with ASD although the need for support as the child becomes of age varies widely. This special issue includes 30 articles on central areas related to parenting and caregiving for people with ASD. Some of the key themes include intervention and training, mental health issues related to parent and family stress, measurement and assessment, and parent–child transactional processes. Other articles in this issue consider different but equally important topics such as sibling as potential future caregivers and parent support of preschool peer relationships.     

Comparative analysis of two methods for wound bed area measurement

Wound bed area measurements are considered to be an essential part of the wound assessment process. Wound care professionals should be aware of the reliability and validity of the techniques they use. The purpose of this study was to assess whether wound care professionals are able to make as accurate and reproducible a measurement of the wound bed area using two methods for area measurement. Five wound care professionals independently assessed 2285 digital wound images for the wound bed area. Each image was measured in random order, three times, and in four angles by providing the rotated versions of each image (0°, 90°, 180° and 270°). Two techniques were compared: free hand drawing and closed polygon (CP) graph algorithm. Comparison of the two techniques showed differences that are, in our opinion, not acceptable in clinical practice when these techniques are used interchangeably and/or the measurements are carried out by different observers. Variations observed between wounds and observers seem related to the difference in perception of the wound bed margin. Our results indicate that repetition of CP graph area measurement results in the lowest difference in repetitive measurements. Study limitations are related to an incomplete consensus on definitions of wound, wound bed, wound edge and wound border. The development of an ontology related to wound images could aid to reduce these ambiguities.