Acute plastic bowing fractures of both the tibia and the fibula in a child

A case of acute plastic bowing fractures of both the fibula and tibia in a child is presented. This type of fracture has never been reported in the tibia, but has now been reported in all the major bones of the limbs. The clinical picture is described, and the indications for treatment discussed. In case of doubt, radiographs should be taken of the opposite limb, if the clinical picture suggests a bowing fracture.     

Comparison of selective media for isolation of Campylobacter jejuni/coli

A comparison of Skirrow's, Butzler's, Blaser's, Campy-BAP and Preston media for Campylobacter spp was made using human, animal and environmental specimens. Butzler's medium gave the lowest isolation rate and Preston medium, which was the most selective, the highest isolation rate. Enrichment culture using Preston enrichment broth gave a higher isolation rate than direct plating onto Preston medium.     

Voronoi Polyhedra Analysis of Optimized Arterial Tree Models

Topological and metric properties of Voronoi polyhedra (VP) generated by the distal end points of terminal segments in arterial tree models grown by the method of constrained constructive optimization (CCO) are analyzed with the aim to characterize the spatial distribution of their supply sites relative to randomly distributed points as a reference model. The distributions of the number N _f of Voronoi cell faces, cell volume V, surface area S, area A of individual cell faces, and asphericity parameter of the CCO models are all significantly different from the ones of random points, whereas the distributions of V, S, and are also significantly different among CCO models optimized for minimum intravascular volume and minimum segment length (p < 0.0001). The distributions of N _f , V, and S of the CCO models are reasonably well approximated by two-parameter gamma distributions. We study scaling of intravascular blood volume and arterial cross-sectional area with the volume of supplied tissue, the latter being represented by the VP of the respective terminal segments. We observe scaling exponents from 1.20 ± 0.007 to 1.08 ± 0.005 for intravascular blood volume and 0.77 ± 0.01 for arterial cross-sectional area. Setting terminal flows proportional to the associated VP volumes during tree construction yields a relative dispersion of terminal flows of 37% and a coefficient of skewness of 1.12. © 2003 Biomedical Engineering Society. PAC2003: 8719Uv, 8710+e, 4720Ky, 0260Pn, 0230Oz     

Lead stimulus modality change and the attentional modulation of the acoustic and electrical blink reflex

Two experiments investigated the effects of the sensory modality of the lead and of the blink-eliciting stimulus during lead stimulus modality change on blink modulation at lead intervals of 2500 and 3500 ms. Participants were presented with acoustic, visual, or tactile change stimuli after habituation training with lead stimuli from the same or a different sensory modality. In Experiment 1, latency and magnitude of the acoustic blink were facilitated during a change to acoustic or visual lead stimuli, but not during a change to tactile lead stimuli. After habituation to acoustic lead stimuli, blink magnitude was smaller during tactile change stimuli than during habituation stimuli. The latter finding was replicated in Experiment 2 in which blink was elicited by electrical stimulation of the trigeminal nerve. The consistency of the findings across different combinations of lead stimulus and blink-eliciting stimulus modalities does not support a modality-specific account of attentional blink modulation. Rather, blink modulation during generalized orienting reflects modality non-specific processes, although modulation may not always be found during tactile lead stimuli.     

Meningioma presenting as an intraoral mass in a patient with neurofibromatosis type 1

A 77-year-old woman with neurofibromatosis type 1 presented with ill-fitting dentures due to intraoral extension of a right temporal fossa mass. Computed tomographic scanning demonstrated that the masticator space mass bowed the zygomatic arch and remodeled the lateral orbit and maxillary sinus walls, findings that were consistent with the clinical diagnosis of a neurofibroma with possible malignant transformation. However, light microscopic, immunohistochemical, and ultrastructural examination of tissue from an incisional biopsy specimen were diagnostic of meningioma. This case illustrates that the clinicopathologic differential diagnosis of an enlarging mass in patient with neurofibromatosis should include sporadic, unrelated neoplasms as well as tumors known to be associated with the syndrome.     

Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes.

Two cDNA probes, cf23a and cf56a, identify deletions of selected exons in about 50% of our DMD/BMD patients. We have estimated the most likely order of the 11 exons detectable with both probes with respect to the different extensions of the deletions. In one of our BMD pedigrees, the observed deletion could be traced in the affected males through three generations. This result shows that with the use of cDNA probes detecting deletions, the only risk of error in genomic prenatal diagnosis is the general high frequency of new mutations for DMD/BMD. This is important progress in diagnosis compared to the 2 to 5% risk of misdiagnosis because of crossing over events using conventional linkage analysis with bridging or intragenic probes. The first prenatal diagnosis of an unaffected fetus of a woman who is a DMD carrier according to ultrasound examination is described. In one of our DMD males, the cDNA probe cf56a detects a deletion breakpoint. His sister also shows the altered band and is therefore a DMD carrier, while his mother has a totally normal band pattern. The interpretation of this observation could be either germline mosaicism or two identical new mutations. The identification of deletion breakpoints is a new diagnostic strategy, especially for carrier determination, which excludes misdiagnosis owing to crossing over events and the problems of dosage estimation. It is, however, limited by the low frequency of breakpoints detectable with cDNA probes. Therefore, the generation of new intron probes in this region is an important goal.     

Identity of immune cells in graft-versus-host disease of the skin. Analysis using monoclonal antibodies by indirect immunofluorescence.

The cellular infiltrate in skin biopsies of 9 patients with graft-versus-host disease (GVHD) has been characterized with the use of monoclonal antibodies by indirect immunofluorescence. Most infiltrating cells in dermis reacted with monoclonal antibodies which recognize T-cell antigens. A mean of 45% of all dermal cells were T11-reactive, while a smaller proportion of cells were identified by another "pan" antibody, OKT3. In all but two instances the proportion of dermal cells reactive with OKT8 exceeded the proportion reactive with OKT4. Anti-Tac, which identifies activated T cells, reacted with a variable proportion of cells. Monocytes and null cells (OKM1+) were frequently observed but were less numerous than T-lymphocytes. Infiltrates were sparsely populated with OKT6-reactive cells, and there was no difference between the number of intraepidermal cells reactive with this antibody in study subjects and normal controls. Few cells reactive with Leu 7 (large granular lymphocytes) or with anti-B-cell reagents were seen. These findings may have clinical implications for use of monoclonal antibodies for prophylaxis and treatment of GVHD.     

Value of gross cystic disease fluid protein-15 in distinguishing metastatic breast carcinomas among poorly differentiated neoplasms involving the ovary

Women with breast cancer have an increased risk of developing primary ovarian tumors. Because a differential diagnosis between primary and metastatic tumors may be difficult in poorly differentiated ovarian neoplasms, breast carcinoma markers may be helpful in establishing the primary site of origin. Gross cystic disease fluid protein-15 (GCDFP-15), a well-known marker of apocrine differentiation, has been reported as a highly specific and sensitive breast carcinoma marker. To evaluate the usefulness of GCDFP-15 as a marker for metastatic breast cancer, we have studied, by the avidin-biotin-peroxidase technique, 14 cases of breast cancer metastatic to the ovary and compared them with 32 primary ovarian tumors and seven cases of ovarian metastases other than breast in origin. Two cases of primary ovarian cancer metastatic to the breast were also included. A strong cytoplasmic immunostaining was found in 10 of 14 cases (71%) of ovarian metastasis from breast carcinoma, and in most cases a characteristic paranuclear staining was noted. All primary ovarian tumors were negative. Ovarian metastases from tumors other than breast and both cases of ovarian carcinoma metastatic to the breast were negative. These results are highly significant (P less than .00001) and demonstrate the value of GCDFP-15 in establishing a primary breast origin among neoplasms of unknown origin involving the ovaries.     

Gene conversion is a likely cause of mutation in PKD1

Approximately 70% of the gene responsible for the most common form of autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in several highly homologous copies located more proximally on chromosome 16. We recently have described a novel technique for mutation detection in the duplicated region of PKD1 that circumvents the difficulties posed by these homologs. We have used this method to identify two patients with a nearly identical cluster of base pair substitutions in exon 23. Since pseudogenes are known to be reservoirs for mutation via gene conversion events for a number of other diseases, we decided to test whether these sequence differences in PKD1 could have arisen as a result of this mechanism. Using changes in restriction digest patterns, we were able to show that these sequence substitutions are also present in N23HA, a rodent-human somatic cell hybrid that contains only the PKD1 homologs. Moreover, these changes were also detected in total DNA from several affected and unaffected individuals that did not harbor this mutation in their PKD1 gene copy. This is the first example of gene conversion in PKD1 , and our findings highlight the importance of using gene-specific reagents in defining PKD1 mutations.