X-chromosome-specific polymorphisms in Duchenne muscular dystrophy: clinical applications.
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Base Sequence↗
Biomedical subjects
T O'Brien
Publications and source records attributed to T O'Brien.
An ultrastructural examination of non-lymphoid host cells of Moloney murine leukaemia virus of CFW/D mice.
An ultrastructural examination of various tissues from CFW/D mice, neonatally injected with Moloney murine leukaemia virus (Mo-MuLV) revealed the presence of type C virus particles budding from the membranes of various bone marrow-derived cells, pancreatic acinar cells, beta cells, and submandibular gland acinar cells. These observations indicate that Mo-MuLV has the potential to replicate in non-lymphoid cell types even when acquired post-partum. In the pancreas, a large accumulation of immature and mature viral particles was observed between the cell membranes of the acinar cells and the basal lamina. A similar accumulation of viral particles was observed in the lumina of the acinus of submandibular glands. The role of murine leukaemia viruses as potential mediators of aberrations of non-haemopoietic tissues and an alternative mode of viral transmission are discussed.
Animals↗
Increased concentrations of immunoreactive leukotrienes in cutaneous lesions of eosinophilic cellulitis.
A case of eosinophilic cellulitis is described. Tests of eosinophil function were normal. Radioimmunoassay identification of inflammatory mediators showed greatly increased concentrations of leukotrienes LTC4/D4 (components of slow-reacting substance of anaphylaxis) in the affected skin. These mediators may play a causal role in the inflammation seen with eosinophilic cellulitis.
Adult↗
Phorbol esters enhance spontaneous cytotoxicity of human lymphocytes, abrogate Fc receptor expression, and inhibit antibody-dependent lymphocyte-mediated cytotoxicity.
Phorbol esters with tumor promoter activity enhance the spontaneous cytotoxicity of human lymphocytes against a variety of target cell lines, with an efficiency that correlates with their potency as tumor promoters or skin irritants. Analysis of surface marker expression of the lymphocytes cytotoxic after treatment with phorbol ester identified the cytotoxic cell subset as that containing natural killer cells. Although gamma-interferon (IFN gamma) is produced by T cells treated with phorbol esters, IFN gamma is probably not the mediator of enhancement of natural killer cell activity, because anti-IFN gamma antibodies failed to block this enhancement. Spontaneous cell-mediated cytotoxicity is inhibited when phorbol esters are present during the cytotoxic assay, but is enhanced when the effector cells are pretreated with these agents. On the other hand, antibody-dependent cytotoxicity mediated by lymphocytes is inhibited by phorbol ester pretreatment of the effector cells or by phorbol esters present during the cytotoxic assay. Treatment of lymphocytes with phorbol esters at 37 degrees C, but not at 4 degrees C, completely abrogates in 1 to 2 hr the expression of the receptor for the Fc fragment of IgG, as detected by rosette formation with IgG-sensitized erythrocytes and by reactivity with anti-Fc receptor antibodies. The inhibition of antibody-dependent cytotoxicity by phorbol esters is probably secondary to their effect on the Fc receptor.
Animals↗
The needle test for complete rupture of the Achilles tendon.
Several difficulties may be encountered in making a definitive non-operative diagnosis of a complete rupture of the Achilles tendon. In this paper, I describe a new test that directly determines the integrity of the distal ten centimeters of the Achilles tendon. This test is compared with the test described by Thompson and Doherty, and the occasional discrepancy between them is explained by observations that are based on examination of anatomical specimens.
Achilles Tendon↗
Implications of diagnostic delay in Duchenne muscular dystrophy.
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Child↗
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.
The inheritance of two restriction fragment length polymorphisms (RFLPs) on the short arm of the human X chromosome has been studied relative to Duchenne muscular dystrophy. This provides a partial genetic map of the short arm of the human X chromosome between Xp110 and Xp223. The data were derived from the segregation between a RFLP located at Xp21-Xp223, the DMD locus, and a RFLP located at Xp110-Xp113. The genetic distance from Xp110 to Xp223 was found to be approximately 40 centimorgans (cM). This provides experimental confirmation that 1cM corresponds to approximately 1,000 kilobase pairs of DNA for this region of the human X chromosome. Our data confirm that the DMD mutation lies between Xp223 and Xp110. The availability of flanking probes surrounding the DMD locus will assist in the ordering of further DNA sequences relative to the mutation.
Alleles↗
Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy.
The existence of linkage has been investigated between the Xg blood group system, two DNA restriction fragment length polymorphisms (RFLPs) located on the short arm of the X chromosome, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). No linkage was found between the Xg locus and the more proximal RFLP (L 1.28); close linkage between Xg and the more distal RFLP (lambda RC8) was also excluded. Both RFLPs show linkage with DMD but are not closely linked with each other. Analyses of 11 families with DMD and ten with BMD, informative for the Xg blood group, reinforce the conclusions of others that there is no measurable linkage between the loci for Xg and for the X-linked forms of muscular dystrophy.
Blood Group Antigens↗
Outlook for a clinically normal child in a sibship with congenital myotonic dystrophy.
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Adolescent↗
Blood pressure and myotonic dystrophy.
The blood pressures of 79 consecutive patients with myotonic dystrophy have been shown to be significantly lower than those of a control series. Reanalysis of previously published data on a group of 17 myotonic dystrophy patients shows a similar result. The possibility that relative hypotension may confer a selective genetic advantage on asymptomatic gene carriers in the community is considered. It is suggested that, since patients with minimal clinical evidence of disease are also hypotensive, measurement of blood pressure may be useful as an adjunct to other methods of preclinical diagnosis of myotonic dystrophy.
Adolescent↗
Genetic linkage between the loci for myotonic dystrophy and peptidase D.
In a linkage study between myotonic dystrophy and peptidase D it is evident from the lod score values that with high probability theta lies between 0 and 0.1. The data thus support a previous hint of linkage between peptidase D and the Lutheran and secretor loci, which were already known to be linked to myotonic dystrophy.
Adult↗
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences.
A linkage study using two different restriction fragment length polymorphisms (RFLPs) identified with cloned DNA sequences has failed to provide evidence for genetic heterogeneity in Duchenne muscular dystrophy (DMD) when tested against intelligence quotient (IQ). Analysis of data for age of confinement to a wheelchair against IQ gave no evidence for heterogeneity. These results are of a practical as well as theoretical significance, since the existence of multiple loci causing DMD would make it more difficult to apply linkage data to genotype prediction in this disease.
Child↗
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.
Two DNA restriction fragment length polymorphisms show genetic linkage to the Duchenne muscular dystrophy locus on the short arm of the X chromosome. Examples are given of families in which these polymorphisms can be used in the prediction of genotype for this disorder.
DNA↗
Recognition and regulation of progenitor marrow elements by NK cells in the mouse.
The cytotoxicity of radiolabelled YAC-1 target cells by natural killer (NK) cells from the spleens of immunocompetent CBA mice is inhibited by unlabelled YAC-1 competitor cells, but not by resting bone marrow from syngeneic or allogeneic adult mice. Rapidly proliferating haemopoietic cells recovered from the spleens of lethally irradiated, bone marrow-reconstituted CBA mice, however, compete strongly in the NK assay. The competitive ability of early regenerating marrow correlates with the presence of an increased percentage of morphologically immature cells of mixed lineages. Competition declines in reconstituted spleens recovered more than 10 days after engraftment, as the proportion of immature elements falls towards that of resting marrow. Although the numbers of unlabelled YAC-1 cells required to produce equivalent competition of unstimulated and interferon-activated NK killing are similar, 10 times fewer regenerating marrow competitors compete cytotoxicity by unstimulated NK effectors to the same degree as interferon activated cells. The numbers of granulocyte-macrophage colonies formed in soft agar by regenerating marrow is also influenced by prior incubation of the marrow cells with NK effector populations. Spleen cells from homozygous athymic mice produce the same effect as cells from their heterozygous littermates. These data suggest that NK cells recognize and regulate the differentiation of progenitor elements within the marrow.
Animals↗
The detection of estrogen receptors in gynecologic tumors using immunoperoxidase and the dextran-coated charcoal assay.
The dextran-coated charcoal receptor assay for demonstrating functional estrogen and progesterone receptors was used to evaluate the receptor content of gynecological tumors. An immunocytochemical method, the immunoperoxidase antiperoxidase method, that may detect estrogen receptors, was also employed on the same specimens utilizing sections from formalin-fixed paraffin embedded blocks. The results by the two methods were compared and were correlated with the state of differentiation of the tumors. According to the dextran-coated charcoal method, two cases of well differentiated endometrial adenocarcinoma were strongly positive for both estradiol and progesterone receptors, and three moderately differentiated cases contained lesser amounts of both types of receptors. Six cases of undifferentiated adenocarcinoma ranged from no detectable receptors to very high values, while of five cases of squamous cell carcinoma of the cervix, only two were positive for estradiol receptors by the dextran-coated charcoal method. Staining of tissue sections from these same cases using the immunoperoxidase method, demonstrated a positive correlation to the dextran-coated charcoal assay for estrogen receptors. The Dextran-coated charcoal method is presently being used clinically as a screening measure for statistical probability of a patient's response to hormone therapy. The degree of positive correlation shown here suggests that use of the immunoperoxidase method may have further potential for diagnostic and clinical use, and merits further investigation.
Adenocarcinoma↗
Acute haematogenous osteomyelitis.
Seventy-seven children admitted with a provisional diagnosis of acute osteomyelitis over a three year period have been reviewed. Acute haematogenous osteomyelitis was confirmed in 45 of these patients whose ages varied from three days to 14 years with a mean of 6.2 years. All patients were treated with intravenous fusidic acid and cloxacillin with splintage for three weeks followed by oral antibiotics for a further period of six weeks. Only seven patients required operation. One patient had recurrence of infection; all other patients were cured with no evidence of chronic osteomyelitis. It is suggested that surgical drainage of acute haematogenous osteomyelitis is seldom needed and that high intravenous doses of antibiotics in combination with splintage are adequate treatment in most cases.
Acute Disease↗
Pruritic specific cutaneous infiltrates in leukemia and lymphoma.
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Adult↗
Gas-liquid chromatographic-thermal energy analyzer determination of N-nitrosodimethylamine in beer: collaborative study.
The GLC/TEA method for N-nitrosodimethylamine (NDMA) in beer was studied collaboratively by 13 laboratories from 7 countries. Collaborators were asked to analyze a total of 10 randomly labeled samples of beer consisting of the following duplicates: a naturally contaminated commercial beer; a beer extremely low (ca 0.1 ppb) in NDMA; and the low NDMA beer spiked with 0.5, 1.9, and 5.0 ppb NDMA. The pooled repeatability and reproducibility coefficients of variation (CV) for all samples were 17% and 27%, respectively. However, when data from 2 laboratories (outliers) were omitted, the corresponding CV values improved considerably (11% and 15%, respectively). Variance analysis showed the presence of a significant laboratory-sample interaction when all data were used for analysis, but this interaction disappeared when data from the 2 outlying laboratories were excluded. The pooled percent recovery of the overall method (omitting outliers) was 101.4 +/- 3.5. All the laboratories detected NDMA in the low NDMA beer. The method was adopted official first action.
Beer↗