Biomedical subjects
Publications and source records attributed to W Grote.
A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.
Recently, we have presented a new technique for immunophenotyping cells that have numerical chromosome aberrations. We referred to this method as "Fluorescence-Immunophenotyping and Interphase Cytogenetics as a Tool for Investigation of Neoplasms" (FICTION). We present here an advanced FICTION method with three-color staining and improved sensitivity.
We describe a method that enables detection and immunophenotypical characterization of distinct subpopulations within a cytogenetically defined tumor clone. Coexisting normal cells do not hinder microscopic evaluation because they can be distinguished from cytogenetically aberrant tumor cells. This is also true when normal and neoplastic cells cannot be clearly distinguished by cytology or immunohistochemistry, i.e., if both constituents have similar immunophenotypes and morphology. The method is based on fluorescence double staining for two different antigens combined with interphase cytogenetic analysis. It is referred to as "Fluorescence immunophenotyping and Interphase Cytogenetics as a Tool for Investigation of Neoplasms (FICTION)." In a case of follicular lymphoma we demonstrate that FICTION can differentiate bcl-2-positive malignant and non-malignant cells and can verify the presence of bcl-2-positive but cytogenetically inconspicuous T-lymphocytes.
A technique is described to detect tumor cells with certain chromosome aberrations within cryostat sections and to characterize these individual cells by immunophenotyping. This new method is called fluorescence-immunophenotyping and interphase cytogenetics as a tool for investigation of neoplasms (FICTION).
In a comparative experimental biodynamic study using thirty-two human cervical spines of cadavers the primary stabilization effect of different types of spondylodesis was examined. Whereas in flexion stress all methods showed a sufficient stability, the rotation tests proved, that in case of a dorsal instability of the lower cervical spine, posterior interlaminar wiring or anterior plate stabilization showed no reliable stabilization effect. However, the compression clamps by ROOSEN and TRAUSCHEL as well as the hook-plates by MAGERL are suitable dorsal stabilization methods with excellent rotation stability. In case of dorsal instability of the lower cervical spine a posterior spondylodesis is necessary and sufficient.
We report on 146 patients with spontaneous intracerebral hemorrhage treated in the period between 1984 and 1988. The aim of this retrospective study was to point out factors for operative respectively conservative treatment. Looking for etiology, age, unconsciousness, localization and extension of hematoma as well as bleeding into the ventricles our results showed that patients over 70 years of age and/or in coma III and IV (Brussels Coma Scale) have a bad prognosis as well as patients with intraventricular bleeding. Patients seem to benefit from operation if hematoma is located in the hemisphere or cerebellar and the extension ranges from 3 to 5 cm.
Patients suffering subarachnoid hemorrhage in whom angiography does not initially show vascular malformation and CT scan rules out an intracranial tumor, have, reportedly, a good prognosis with a rate of recurrent hemorrhage of about 2-10% within a follow-up time of up to 15 years. Most authors denied indication for control angiography. In order to study the benefit of control angiography performed after 4-6 weeks, four-hundred eighty-three patients with SAH but without ICH were reveiwed, and the longterm clinical course of 98 patients with SAH of unknown origin treated in our department between 1976 and 1988 was investigated. Among 183 patients who underwent control angiography, a second angiography showed an aneurysm in 143. The third angiography was positive in a further 18 patients. Recurrent SAH occurred early only in patients who had undergone only one angiography. One patient died from intracerebral hemorrhage of unknown origin two years following SAH. These data support the need for control angiography in cases of SAH.
The recently developed MAC (morphology-antibody-chromosome) method allows simultaneous immunophenotype and karyotype analysis in the same cell. To date, application of this new method has been hampered by the poor quality of chromosome banding. In this paper, we describe a modified simultaneous immunofluorescence and Q-banding technique, as well as a new combination of immunohistochemical and fluorescent R-banding methods. By further modifying the MAC method, we were able not only to achieve unequivocal results with weakly expressed antigens but also to improve the quality of the banding techniques, so that even structural chromosome abnormalities were well defined.
In immunocytochemical studies, the phenotypic evaluation of tumor cells is often complicated by accompanying normal cells, representing the original tissue or infiltrating leukocytes. This holds particularly true for tissues with a great morphological and immunophenotypical variability, such as bone marrow. A method that identifies mitotic tumor cells by chromosomal aberrations and permits the subsequent immunophenotypical analysis was a first progress, demonstrated by Teerenhovi et al. However, the results are usually hampered by the low number of analyzable mitoses. We demonstrate here a method that simultaneously combines immunophenotyping and in situ hybridization with centromere-specific probes. Using our method, numerically aberrant tumor cells can be identified by interphase cytogenetics and subsequently analyzed immunophenotypically. Since all interphase cells can be analyzed, we are not limited by the number and banding quality of analyzable mitoses.
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Isoelectric focusing (IEF) of amniotic fluid alpha-fetoprotein (AFP) in thin-layer polyacrylamide gels containing 8 M urea followed by immunoblotting reveals at least nine bands, band I lying next to the cathode. Compared with 298 amniotic fluid samples from normal pregnancies, we found that the density of band V was increased in seven cases of fetal death. In 16 amniotic fluid samples from pregnancies with open neural tube defects (ONTD), band V disappeared or was markedly decreased. In seven cases with elevated AFP and positive acetylcholinesterase (AChE) due to contamination with fetal blood, no difference in pattern was observed compared with samples from normal pregnancies. It is suggested that IEF of AFP and subsequent immunoblotting are an apparently diagnostic test for ONTD and intrauterine fetal death (IUFD).
We briefly present software for performing metacarpophalangeal pattern (MCPP) profile analysis, which runs on generally available low-cost IBM (PC, XT, AT) and compatible PCs. The program is easy for the medical geneticist to handle and apply. We compared the mean MCPP of our own patients with Ullrich-Turner syndrome with the mean MCPP for Ullrich-Turner patients originally published by Poznanski.
The aim of operative treatment in degenerative cervical disc disease is the decompression of nerval structures. Generally this can be achieved either by an anterior or posterior approach. In our opinion the anterior way seems to be more favourable because the protruded vertebral disc can be totally removed in a direct approach. Besides this you can get a better survey of the spinal cord and the nerve roots. Fusion or not fusion after discectomy is discussed controversially. We prefer fusion to avoid pain caused by temporary instability. Since 1968 we treated 1,112 patients by this way and we used PMMA for fusion instead of a bone graft. No disadvantage of this method could be noticed. The results and complications are compared to those reported in the literature.
Cytogenetic studies of lymphoproliferative diseases, such as angioimmunoblastic lymphadenopathy (AILD), may provide a clue to the understanding of tumor development. Angioimmunoblastic lymphadenopathy may evolve from a nonmalignant lymphoproliferation into a peripheral T-cell lymphoma or even into a high-grade B-cell lymphoma and thus offers the chance to observe cytogenetic changes during lymphoma development. We report the cytogenetic findings in 24 cases of AILD. They are discussed together with 18 previously published cases from the same series. A striking feature was that unrelated chromosome abnormalities, both clonal and nonclonal, were frequently observed. Eighteen of 25 cases with aberrant clones show trisomy 3 (a characteristic chromosome abnormality in peripheral T-cell lymphoma), trisomy 5, or both. This finding provides cytogenetic evidence that these cases are definitely peripheral T-cell lymphomas. From the results of the 42 cases, hypotheses of stepwise evolution of the chromosome abnormalities in AILD are deduced: the first step is the appearance of chromosome abnormalities in different cells because of a genetic instability. At this time, clonal proliferation of T cells was already demonstrated by the rearrangement of T-cell receptor genes. As a second step, chromosomally aberrant clones become established. A cytogenetically detectable monoclonal proliferation represents the third step.
Cytogenetic analysis of leukemic cells from a 76-year-old patient with acute monocytic leukemia revealed the karyotype 47,XY, +8,t(1;11)(p31;q23). To the best of our knowledge this is the first case with involvement of the short arm of chromosome 1 in a t(1;11) in acute nonlymphocytic leukemia. In order to determine which hematopoietic cell lineages are involved in this case, we used a method to demonstrate chromosomes and cell surface antigens of the same cell. To identify mitoses as monocytic, erythrocytic, megakaryocytic, or lymphocytic, cell surface antigens were stained with monoclonal antibodies in an APAAP detection procedure. Subsequently, an R-banding technique was performed. About 80% of the abnormal mitoses expressed monocytic markers. No erythrocytic, megakaryocytic, or lymphocytic mitoses were found. Only an involvement of the monocytic cell lineage was revealed.
The distal breakpoint of inv(14) in T cell clones, established from patients with ataxia telangiectasia, lies outside the immunoglobulin heavy chain gene locus on 14q32.3, and more proximal to the centromere than the distal breakpoint of inv(14) in the T cell lymphoma cell line SUP-T1. We report 3 cases of T cell lymphoma cytogenetically showing the same type of inv(14) as the AT T cell clones. All 3 cases express a similar immunophenotype, which is that of peripheral T lymphocytes with phenotypic remnants of thymic or postthymic lymphoblasts. This finding provides evidence that this type of inv(14) is involved in the malignant transformation of mature T lymphocytes.