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Biomedical subjects

B Weber

Publications and source records attributed to B Weber.

At least 325 records · Page 18Linked to original sources
PubMed1990

Immunohistologic findings in otosclerosis.

The cause of otosclerosis is still unclear. Between 1981 and 1988 we obtained 186 biopsy specimens of otosclerotic bone during the course of stapedectomies. Serial sections of the specimens were examined histologically (H & E) and immunohistologically (peroxidase-antiperoxidase technique) for immunoglobulin G, immunoglobulin M, and C1q and C3 complements. Active otosclerotic foci were found in 61 cases, 43 of which had IgG deposits. IgM antibodies were absent. In specimens with inactive otosclerosis, IgG and IgM were not evident, C1q and C3 complements were demonstrated together with IgG, but sometimes also in the mucosa independent of the phase of the otosclerosis. Our findings suggest that an immunologic process may be important in the pathogenesis of otosclerosis.

Acute Disease↗
PubMed1990

Needs assessment for genetic services in Texas.

In summary, we found that the availability of genetic services for the Medicaid patients with the 11 selected disorders follow the general population distribution for Texas. In general, there is no major geographic factor limiting availability of services. We also found that the calculation of Medicaid dollars paid according to the size of the metropolitan area in which the patient resides indicates that there are fewer Medicaid dollars spent on these 11 genetic disorders per person in the population in the larger metropolitan areas. We conclude that preliminary review of these data indicate that the urban poor may have a greater need for medical services that deal with genetic disease.

Databases, Factual↗
PubMed1990

A study of medical costs associated with selected genetic disorders in Texas.

We estimated that the payments associated with the 11 selected diseases during 1987 in Texas included $88.2 million from Medicaid and $10.6 million from CIDC for a total of $98.8 million. Patients with these diseases represented 0.83% of Medicaid claims, but 4.68% of Medicaid payments. Medicaid payments for genetic services for patients with these 11 selected disorders in Texas during a nine-month period in 1987 were $10,122, or 0.02% of the total Medicaid payments for these claimants. We conclude that our estimate of the Medicaid payments for these disorders in 1987 of nearly $100 million represents a low estimate of the true medical costs for the care of these patients. This study also indicates that these 11 disorders represent a disproportionate share of Medicaid payments; i.e., these patients show a high ratio of payment per claim. We also conclude from these data that CIDC is a significant source of support for the medical care of these patients in Texas. And, finally, this study suggests that referral for genetic services represents a significant barrier for individuals in need of these services.

Child↗
PubMed1989

Effect of different oestrogen doses on final height reduction in girls with constitutional tall stature.

The effects of different doses of oestrogens in constitutionally tall girls were evaluated in two centres for paediatric endocrinology. In one centre, 38 girls were treated with a high oestrogen dose of 0.3 to 0.5 mg ethinyloestradiol (EE) daily. In the other, 44 girls received a comparably low dose of 0.1 mg EE per day. Height prediction (HP), chronological age (CA), and height at the onset of treatment were comparable in both groups. Although the duration of treatment was significantly longer in those receiving the low dose, the cumulative oestrogen dose was still significantly lower. The dose of EE had no effect on final height reduction (high dose group: 4.9 +/- 2.6 cm, low dose group: 5.1 +/- 2.4 cm). Final height was more reduced in both groups when treatment was started at an early bone age (BA) (less than or equal to 13 years). No serious side effects were observed in either group, however weight gain was more pronounced in girls receiving the higher dose. We conclude that treatment of constitutionally tall girls with low doses of oestrogens is equally effective in reducing the final height as the usually administered high doses. The lowest effective dose has to be determined in a randomized, prospective clinical trial.

Adolescent↗
PubMed1989

[Observations on the Camurati-Engelmann syndrome. Demonstration of changes of the petrous bone using high-resolution computed tomography].

In Camurati-Engelmann disease HR-CT can impressively demonstrate the involvement of the skull base and also correlate well with the clinical symptoms of deafness, vestibular disturbances and facial paralysis. Since conservative treatment with corticosteroids, calcitonin and diphosphonates is hardly successful and compression of the cranial nerves practically absent, surgical treatment with decompression should be considered. Differential diagnosis against other bone affections with deafness depends on age, typical x-ray findings, local distribution and clinical signs.

Adult↗
PubMed1989

Posttranscriptional stabilization of c-fms mRNA by a labile protein during human monocytic differentiation.

The c-fms proto-oncogene encodes a transmembrane glycoprotein that is closely related or identical to the receptor for the monocyte colony-stimulating factor CSF-1. The present studies examined the mechanisms responsible for the regulation of c-fms gene expression during human monocytic differentiation. Levels of c-fms mRNA were undetectable in HL-60 promyelocytic leukemia cells, while 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced monocytic differentiation of these cells was associated with the appearance of these transcripts. Run-on transcription assays demonstrated that the c-fms gene was transcriptionally active in uninduced HL-60 cells and that the rate of transcription was unchanged after TPA treatment. These findings suggested that c-fms mRNA levels in HL-60 cells are controlled by posttranscriptional mechanisms. The half-life of c-fms transcripts in TPA-induced HL-60 cells was found to be at least 6 h, while inhibition of protein synthesis with cycloheximide (CHX) decreased this half-life to 4 h. Moreover, inhibition of protein synthesis was associated with decreases in c-fms mRNA levels and a block in the induction of c-fms transcripts by TPA. These findings indicated that the c-fms transcript is stabilized by a labile protein. In contrast to HL-60 cells, c-fms mRNA is constitutively expressed in resting human monocytes and is down-regulated by treatment of these cells with TPA. Run-on assays demonstrated that TPA-induced downregulation of c-fms mRNA levels in monocytes occurred at the posttranscriptional level. Moreover, the results demonstrate that levels of c-fms mRNA are regulated posttranscriptionally by a labile protein. In this regard, the half-life of the c-fms transcript was 6.1 h in monocytes, while treatment of these cells with CHX decreased the half-life to 30 min. Furthermore, this effect of CHX occurred in the absence of changes in the rate of c-fms gene transcription. Together, these findings indicate that c-fms gene expression is regulated at a posttranscriptional level both in HL-60 cells induced to differentiate along the monocytic lineage and in human monocytes. The findings also indicate that levels of c-fms mRNA are regulated by the synthesis of a labile protein which is involved in stabilization of the c-fms transcript.

Cell Differentiation↗
PubMed1989

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

Analysis of many families with linked DNA markers has provided support for the Huntington's disease (HD) gene being close to the telomere on the short arm of chromosome 4. However, analysis of recombination events in particular families has provided conflicting results about the precise location of the HD gene relative to these closely linked DNA markers. Here we report an investigation of linkage disequilibrium between six DNA markers and the HD gene in 75 separate families of varied ancestry. We show significant non-random association between alleles detected at D4S95 and D4S98 and the mutant gene. These data suggest that it may be possible to construct high and low risk haplotypes, which may be helpful in DNA analysis and genetic counselling for HD, and represent independent evidence that the gene for HD is centromeric to more distally located DNA markers such as D4S90. This information may be helpful in defining a strategy to clone the gene for HD based on its location in the human genome.

Alleles↗
PubMed1989

Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates.

In a representative sample of primate species, including simians (Catarrhini and Platyrrhini) and prosimians (Lemuriformes and Lorisiformes), high-resolution, early replication banding revealed a homoeologous early replicating segment at the ends of both sex chromosomes. The DXYZ2 element, a repeated sequence specific for the human pseudoautosomal region, is conserved in the genomes of all primate species studies and is specifically localized in the distal early replicating segments of the X and Y chromosomes. Thus, cytogenetic and molecular evidence is presented of a highly conserved sex-chromosomal segment in primates. The pseudoautosomal behavior of this segment is discussed.

Animals↗
PubMed1989

[Conservative treatment of breast cancer. Carcinologic and cosmetic results of combination quadrantectomy and irradiation at the Centre Alexis-Vautrin].

We studied the association of quadrantectomy and irradiation in 238 patients with a breast carcinoma treated from 1974 to 1984 in the Alexis-Vautrin Center. Five and ten year survival rate are respectively 89 and 77%. Local relapse rate at five and ten year are 2, and 9%. Local relapse rate is correlated with a young age, a high tumor grade and an internal site of tumor. We studied the cosmetic and functional results and compared objective results according to subjective self-evaluation by the patients.

Adenocarcinoma↗
PubMed1989

[Osteochondrosis of the cervical spine as a cause of globus sensation and dysphagia].

Dysphagia and globus hystericus can be caused by disorders of the cervical spine. Functional disorders of the upper cervical spine are the most common cause of dysphagia and globus hystericus due to vertebral disease. Prominent osteophytes of the ventral spine occasionally cause these complaints. In these cases the operative ablation of the osteophytes is effective. This is demonstrated in the following report, and the indication for operation is discussed.

Cervical Vertebrae↗
PubMed1988

Chromosomal localization of the carcinoembryonic antigen gene family and differential expression in various tumors.

Carcinoembryonic antigen (CEA) is a glycoprotein which is important as a tumor marker for a number of human cancers. It is a member of a gene family comprising about 10 closely related genes. In order to characterize mRNAs transcribed from individual genes we have identified by DNA and RNA hybridization experiments, gene-specific sequences from the 3' noncoding regions of CEA, and of nonspecific cross-reacting antigen (NCA) mRNAs, which have been recently cloned. With these probes, CEA mRNAs with lengths of 3.5 and 3.0 kilobases and an NCA mRNA species of 2.5 kilobases were identified in various human tumors. A 2.2-kilobase mRNA species, however, could only be detected in leukocytes of patients with chronic myeloid leukemia by hybridization with a probe from the immunoglobulin-like repeat domain of CEA. This region is known to be very similar among the various members of the CEA gene family, and indeed the probe hybridizes with all four mRNA species. In situ hybridization with a cross-hybridizing probe from the NCA gene localized the members of the CEA gene family to the short and to the long arm of chromosome 19. In addition, a CEA cDNA probe was found to hybridize to the long arm of chromosome 19 only.

Antigens, Neoplasm↗
PubMed1988

Oestrogen treatment of constitutionally tall girls with 0.1 mg/day ethinyl oestradiol.

For the treatment of tall stature in girls, oestrogens are usually given in high doses. In this study, growth data of 35 constitutionally tall girls treated with only 0.1 mg/day ethinyl oestradiol (EE) are reported (Group 1). The data were compared with those of 23 untreated girls with comparable bone ages and growth potential (Group 2), and with those of 5 girls treated with 0.3 mg/day EE (Group 3). All groups were followed until cessation of growth. In group 1, the median bone age at the onset of treatment was 12.50 years (Greulich-Pyle, range 10.50-13.75), and the median height prediction was calculated to be 184.4 cm (Bayley-Pinneau, range 179.5-191.5). Following oestrogen treatment of 21 months duration (range 10-37) the median adult height was reduced by 4.3 cm (range 0.0-9.0), or 3.9 cm if corrected for the error of prediction in the control group. The effect was greater in those girls with bone ages below 12.5 years at the onset of treatment (6.7 cm/corrected value 7.4 cm) than in the older girls (4.2 cm/3.6 cm). In Group 2 (controls) the median final adult height was over-estimated by 0.4 cm (range-4.9 to 4.9), but was under-estimated by 0.7 cm in those girls with bone ages below 12.5 years. In girls of comparable bone age similar reductions were obtained whether 0.3 mg/day EE (Group 3) or 0.1 mg/day was given (4.4 vs. 4.2 cm). A comparison of these results with published data indicates that higher EE doses (0.3-0.5 mg/day) have only little, if any, greater effect on the growth of girls than the dosage of 0.1 mg/day EE used in this study.

Adolescent↗
PubMed1988

X-Y crossing over in the chimpanzee.

Single-copy DNA sequences defining several pseudoautosomal loci on the human sex chromosomes are shown to be highly conserved in the genome of the chimpanzee. Segregation analysis of polymorphic pseudoautosomal probes in a chimpanzee pedigree revealed that the transmission of the paternal alleles was not strictly sex-linked. In situ hybridization localized the pseudoautosomal probe 29C1 specifically to Xp22-Xpter and to Yq12.2-Yqter on the chimpanzee sex chromosomes. Thus, our results demonstrate the existence of homologous segments on the chimpanzee X and Y chromosomes, which regularly undergo recombinatory exchange in male meiosis. The chimpanzee is now the third mammalian species, besides man and mouse, in which there is genetic evidence for a pseudoautosomal segment on the sex chromosomes.

Animals↗
PubMed1988

Tamoxifen plus bromocriptine versus tamoxifen plus placebo in advanced breast cancer: results of a double blind multicentre clinical trial.

We carried out a double blind multicentre clinical trial in which 171 patients with advanced breast cancer were randomized to receive tamoxifen (30 mg/day) + bromocriptine (5 mg/day) or tamoxifen + placebo. No difference was found in the overall response rates in the two groups (37.5% for placebo; 38% for bromocriptine) or in subgroups (breast tumours, lymph nodes, lung, bone, skin metastases). Tolerability was good in both groups. Within the limits of the statistical power of the test (80%), our results do not show any benefit when bromocriptine was added to tamoxifen.

Antineoplastic Combined Chemotherapy Protocols↗