Biomedical subjects
Publications and source records attributed to P Bader.
Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.
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Resting CD8+ and CD4+ murine T cells become efficiently activated by the superantigen (SA) staphylococcal enterotoxin B (SEB). Limiting dilution experiments reveal that roughly every third CD8+ or CD4+ T cell could be induced to proliferate. Surprisingly, besides CD8+ T cells, also CD4+ cells acquire a high cytolytic activity upon activation with SEB. Both subpopulations only lyse MHC class II positive target cells in the presence of SEB. However the recognition of SEB by CTL is independent of the haplotype of the MHC, i.e. is MHC-unrestricted. In addition the recognition of SEB is independent of the coreceptor molecules CD4 and CD8, respectively.
Roentgenographic measurements are used in the facial diagnosis of a male patient (proband) and his mother with unusual craniofacies. Twenty-four measurements (from both the PA and LA x-ray headplates) defining the major anatomic areas of the head and face were chosen as the overall descriptors for the characterization and recognition of craniofacial pattern profile (CFPP). The measurements were transformed into Z-scores. By using the sigma z (i.e., standard deviation of the z-scores) value, the CFPP deviations were estimated. The proband and mother have aberrant, i.e., dysmorphic, craniofacial pattern profiles. The proband's CFPP is highly stable at two successive ages (6 and 13 years, respectively); only the cranial base and palatal dimensions are becoming increasingly abnormal and asymmetric. Familial as well as syndromic CFPP similarities were assessed. Results of correlation coefficients rz demonstrate a significantly high level of CFPP similarity between the proband and mother. This strongly suggests that the two are the carriers of the same genetic syndrome. Unusual syndrome-specific facial features shared by the two include abnormally large midface, very high-set and widely placed eyes, retrusive and asymmetric upper alveolar region, very small malar bones, and long mastoid processes.
We report on cases of the thrombocytopenia absent radius syndrome (TAR) in a family with the first documented occurrence of parent-to-child transmission. At least three other families have been reported in which TAR has been transmitted across generations. The pattern of transmission in these cases is not consistent with the simple autosomal recessive mode of inheritance which has been proposed. TAR syndrome may be a genetically heterogeneous disorder of the result of one of a group of related alleles. Given the increasing evidence for genetic and causal heterogeneity in TAR together with its similarity to conditions such as Holt-Oram, WT Limb-Blood and SC-Roberts Phocomelia syndromes it may be reasonable to view TAR as a developmental field defect rather than a genetic syndrome. Genetic counseling of affected individuals and their families should be modified to reflect the possibility of a recurrence risk as high as 50%.
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As a method for the preselection of alarms in gynecological cell samples, the Battelle Cytophotometry Research Group uses the slit-scan technique to obtain various cell parameters, such as the N/C ratio and the relative DNA content, from fluorescently stained cells, which are aligned one-dimensionally in the tape system designed at Battelle. The system developed at Battelle Institute analyzes all signals that exceed the background noise. As the first step in processing the slit-scan data, several threshold levels permit the separation of various artifacts. In subsequent steps, the nuclear peak is recognized, the nuclear boundaries are calculated, and seven cell parameters are determined. For the alarm detection at present only one parameter, DNA fluorescence, is used for these determinations. Visual assignment of these data to definite objects on the tape makes it possible to obtain frequency distributions of: (a) all recorded objects within the sample on the tape; (b) all signals that are classified as cells; and (c) all types of objects that preferentially cause alarms.
In this report, a preselection of alarms in a system for automated screening of cervical cancer based on depositing the cell sample linearly as a "cell trace" on a tape and analyzing it at different decision levels with increasing complexity, and preliminary results on analyzing cervical material with this system are discussed. The "cell trace" is analyzed with the slit-scan technique. Six parameters are computed: 1) cellular diameter; 2) nuclear diameter; 3) nuclear fluorescence (acriflavin-Feulgen) as nuclear DNA; 4) cellular fluorescence; 5) nuclear to cytoplasm ratio (N/C ratio); and 6) nuclear density. At present, only nuclear fluorescence is used to define a decision boundary between normal and potentially atypical cells. Under this criteria the slit-scan analysis leaves 5% of the events in a sample that must be rechecked at a second decision level in normal cell samples. A further reduction is expected when several slit-scan parameters are used at the first decision step. All events declared suspicious will be investigated in more detail by a two dimensional image analyzing system where the fluorescence image is generated by a laser scanning system. Results obtained in preliminary experiments are discussed in this paper.
A 34-year-old female gave birth to a 32 to 35 week-old girl one year after she had undergone renal transplantation. The child was dwarfed and microcephalic and also had congenital platelet deficiency and purpura. In addition it was anaemic and suffered from severe neonatal icterus. An initial hypogammaglobulinaemia disappeared except for low IgA levels. The immunoglobulin deficiency is probably correlated with the virologically and serologically proven cytomegalovirus infection. The incidence of this disease seems to be high in children of mothers with renal transplantations.
This report proposes that perfusion scanning in combination with arteriography be included in the diagnostic work-up of the diabetic patient who, because of peripheral vascular complications, is a candidate for surgery. Two cases are reported which illustrate the extremes of the findings: abnormal arteriogram-normal scan indicating large-vessel disease without significant small-vessel involvement. It is suggested that these patients are candidates for vascular reconstruction. The other extreme is the normal arteriogram-abnormal scan indicating small-vessels disease without significant large-vessel involvement. It is apparent that these patients are not candidates for vascular reconstruction.
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In a randomized series of patients who underwent gynaecological operations, the prophylactic effect on thrombophlebitis of low dose Heparin was compared to that of oral anti-coagulants. One group (n = 221) received Heparin (Liquemin Roche) subcutaneously in a dosage of 5000 units 2 hours pre-operatively and every 12 hours until the eighth post-operative day. The control group (n = 237) continued to receive the conventional prophylactic medication with Sintrom by mouth from the second post-operative day to complete ambulation keeping the quick test between 20 and 30%. The two groups were more or less identical regarding several risk factors and the following results were obtained: 1. The number of cases of deep thrombophlebitis diagnosed by the I-125-Fibrinogen test was significantly less in the group receiving Heparin than in the group receiving Sintrom. Clinical examination showed the same correlation but only detected 30% of all cases of deep thrombophlebitis. 2. The clinical suspicion of pulmonary embolism was more frequent in the group of patients receiving low dosage Heparin. Most of the symptoms were mild and none of the patients died. 3. During the anti-coagulant treatment the incidence of secondary bleeding was the same in both groups. The prevention of deep thrombophlebitis by low dosage Heparin is a very effective and simple method with few side effects and is superior to the post-operative prophylaxis with oral anti-coagulants.
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