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Biomedical subjects

G Wolff

Publications and source records attributed to G Wolff.

349 records · Page 20Linked to original sources
PubMedDate not supplied

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described are in the range of 10-50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum.

Cell Line, Transformed↗
PubMedDate not supplied

[Psychosocial aspects of the treatment of phenylketonuria].

The psychosocial aspects of phenylketonuria (PKU) were investigated retrospectively in the families of 25 children and adolescents with classical PKU. With the help of a semistructurated questionnaire the parents were asked in interviews what impact the birth, the diagnosis of PKU in their child and the treatment itself had on them. 19 of the children had been detected by newborn screening and given early treatment. With one exception they all showed adequate intellectual development. Six other children were diagnosed late and only three of them had been given dietary treatment with some degree of success. Many of the parents reacted with shock and disbelief after being informed that their child was abnormal. In many ways the parents expressed retrospectively the wish that they had been better informed about their childs disease and had more intensive support from the medical professionals. They believed that with these prerequisites they would have been more competent in the case of their children. The data demonstrate the necessity of psychological care for the entire family of the chronically sick child.

Adaptation, Psychological↗
PubMedDate not supplied

Development of synthetic pan-selectin antagonists: a new treatment strategy for chronic inflammation in asthma.

Asthma is characterized by chronic inflammation of large and small airways maintained by extravasation of leukocytes from the bloodstream into the surrounding peribronchial tissue. The process of extravasation is of crucial importance in inflammation and is mediated by a sequenced and concerted action between different adhesion molecules on endothelial cells and ligands on leukocytes. In this context, initial rolling and tethering is generally considered to be the primary event which is mediated by selectins, a family of glycoproteins comprised of E-, P- and L-selectin. Their role in asthma has been demonstrated in a variety of animal models, showing that all three selectins are involved in the chronic inflammation in asthma. Therefore, selectins are an attractive target where pan-selectin antagonism is the desired treatment strategy. Here, we give an overview of the status of the preclinical and clinical development of bimosiamose, the most advanced synthetic pan-selectin antagonist as a treatment for asthma.

Animals↗
PubMedDate not supplied

[Basic principles of genetic counseling].

Genetic counseling and diagnosis are increasingly significant for individual and social life. In view of inherent practical and ethical problems in medical practice, the definition of rules in this field seems necessary. The paper provides a compilation and short argumentation of such rules. They should establish a certain qualitative standard and can serve as a foundation for future discussion.

Female↗