[Situation of the German university pathologies under the constraints of the corona pandemic-evaluation of a first representative survey]. / Situation der Deutschen Universitätspathologien unter den Einschränkungen der Corona-Pandemie ­ Auswertung einer ersten repräsentativen Umfrage.

German University Pathologies are affected by the Corona Pandemics and respective measures. A survey among all 36 University Pathologies was conducted (return rate 83%) and evaluated; it allows to assess the current situation and shows significant restrictions in the diagnostic and research performance and high willingness to perform Coviid autopsies.

Cognitive and behavioral profile of fragile X boys: correlations to molecular data.

Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is associated with transcriptional silencing of the FMR1 gene. The lack of FMR1 protein is believed to be responsible for the typical physical and mental characteristics of the syndrome. To analyze the specific phenotype of that syndrome as well as possible associations between the phenotype and the genotype, we examined a group of 49 fragile X boys and a control group of 16 patients with tuberous sclerosis. To determine the cognitive and behavioral phenotype, the Kaufman Assessment Battery for Children (K-ABC), the Child Behavior Checklist (4/18), and a structured psychiatric interview (Kinder DIPS) were used. The genotype was analyzed by the Southern blot method. The phenotype of boys with FXS is characterized by a specific cognitive profile with strengths in acquired knowledge and in simultaneous processing. The psychiatric comorbidity is high and ADHD (attention deficit hyperactivity disorder), oppositional defiant disorder, enuresis, and encopresis predominate. In a group of 24 fragile X boys, no significant correlations between the specific aspects of the phenotype and the genotype were found.

Association of CD2 and T200 (CD45) in mouse T lymphocytes.

A monoclonal antibody (mAb 12-15) reactive with the mouse CD2 was found to co-precipitate a high-molecular-weight glycoprotein from mouse thymocyte, splenic lymphocyte, Con A blast, and T cell tumor detergent lysates which was identified as the leukocyte common T 200 glycoprotein (CD45). The reactivity was specific for CD2 since antibodies to CD3 did not co-precipitate the T200 glycoprotein. mAb 12-15 did not react with immunoaffinity-purified T200 glycoprotein, ruling out the possibility that the antibody detected a cross-reactive epitope. Biochemical data indicated that the association of CD2 with T200 was not generated during lysis of the cell and that the molecular complex was non-covalently linked since it could be destroyed by high salt washing or boiling in SDS. Distribution analysis in Triton X114-H2O revealed that, in contrast to free T200 molecules, the complexed T200 was enriched in the detergents phase. To investigate the CD2-T200 association in more detail at the cell surface, modulation of CD2 and T200 was studied. Modulation could be induced on Con A blasts by monoclonal antibodies followed by cross-linking with a FITC-conjugated second antibody. Within 24 h the expression of CD2 or T200 was reduced to approximately 10-20% of the initial value on the majority of cells. However, two-color fluorescence showed that modulation of CD2 did not lead to co-modulation of CD3 or T200. A possible physiological role of CD2-T200 complexes is discussed.

Endogenous retroviral env genes after N-methyl-N'-nitro-N-nitrosoguanidine treatment of mouse tumor cells: stable DNA amplification and rearrangement.

Immunogenic tumor variant clones derived by N-methyl-N'-nitro-N-nitrosoguanidine treatment of Eb lymphoma cells showed structurally altered gp70 env proteins at the cell surface. To further investigate this observation we screened for complementary DNA clones encoding gp70 antigens from a lambda gt11 expression library constructed from mRNA of a mutant cell clone. Using gp70-specific antibodies, a total of 10 complementary DNA clones were identified and analyzed. DNA-sequence analysis revealed the presence of both xeno/or mink cell focus-forming-type (clones 1, 10) and endogenous ecotropic gp70 (clones 2, 3, 4). Southern blot experiments using clone 2 as a probe detected new restriction fragments and DNA amplification with high copy number in the DNAs of N-methyl-N'-nitro-N-nitrosoguanidine-treated but not in parental or 5'-azacytidine-treated control cells even after greater than 120 days in tissue culture. No alterations in the restriction fragment pattern of the genomic DNAs could be detected using H-2K-, beta-actin-, or dehydrofolate-reductase-specific gene probes. The DNA amplification of specific gp70 sequences may be related to the enhanced expression of a subset of gp70 in mutant cells that was previously found to induce syngeneic antibody production.

Prenatal counseling: a statewide telephone service.

The University of Michigan has provided a statewide prenatal counseling service for obstetricians and pregnant patients since 1974. Using a toll-free telephone hot line, 5204 inquiries have been made, relating to genetic conditions, exposure to potential teratogens, and obstetric or medical complications during early pregnancy. Up-to-date and accurate information has been supplied by a team of nurses and physicians with backgrounds in genetics or maternal-fetal medicine. Calls were taken by perinatal nurse counselors and referred to the appropriate medical specialist. The number of inquiries has increased from 3 per week in 1974 to 30 per week in 1981. Genetic amniocenteses, performed in response to 46% of all inquiries, provided financial support for the project. The authors consider the statewide use of this self-supported prenatal counseling service to be encouraging and recommend that this format be used at other institutions.