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A definite seasonal change is observed in 2 transaminases, SGOT and SGPT of R. tigrina. Cold acclimation significantly depresses transaminase activity of serum.
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Genome-wide linkage scans using affected sibpair families are being conducted on many complex diseases, such as type 1 and type 2 diabetes, multiple sclerosis, rheumatoid arthritis, schizophrenia, asthma, cardiovascular diseases, obesity, and alcoholism. Despite extensive efforts by many groups, progress has been exceedingly slow, and only a few genes and some genomic regions involved in complex diseases have been identified. The general picture is one of difficulty in locating disease genes and replication of reported linkages. This results from the fact that complex diseases and traits may result principally from genetic variation that is relatively common in the general population involving a large number of genes, environmental factors, and their interactions. Genome-wide association studies are now feasible through the use of PCR methodologies with pooled DNA samples and microsatellite variation, and more recently single-nucleotide polymorphism (SNP) variation. Issues relating to significance levels in genome-wide linkage and association scans are discussed, and suggestions for dealing with false positive (type I) errors proposed.
PURPOSE: To review the distribution of intrahepatic portal venous branching in order to determine the prevalence of variations. MATERIAL AND METHODS: We made a retrospective review of 655 contrast-enhanced helical CT (CECT) images of patients referred to our department for upper abdominal CT examination during an 8-month period. Of the 655 patients, 70 were eliminated from the study because of improper opacification of the portal venous system. Variations of portal venous branching in the remaining 585 patients were classified. RESULTS: Of 585 patients, 504 (86.2%) had classical bifurcation of the main portal vein (MPV); 72 (12.3%) had a trifurcation of the MPV, 5 (0.9%) had a right anterior segmental branch originating from the left portal vein (LPV), 2 (0.3%) had an LPV originating from the right anterior segmental branch and 2 (0.3%) had a right posterior segmental branch arising from the MPV. CONCLUSION: Variations of portal venous branching are common and helical CT is efficacious in identifying these variations.
BACKGROUND: Among older people, distraction while walking may increase the risk of falls. Factors underlying individual differences in dual tasking are not fully understood. Our aim was to study the effect of a second task on maximal walking speed and to examine whether individual differences in walking speed measured with and without a second task are accounted for by genetic and environmental influences shared across tasks or specific to each task. METHODS: The data were collected from the 101 monozygotic and 116 dizygotic twin pairs aged 63-76 years recruited from the Finnish Twin Cohort. Maximal walking speed (MWS) over 10 m was measured on a laboratory corridor and timed with photocells. The test was repeated while subjects performed, first, a manual task (MWSmanual) and, second, a verbal task (MWSverbal). RESULTS: Mean walking speed without a simultaneous task was 1.72 m/s (standard deviation [SD] 0.33), with a manual task it was 1.52 m/s (SD 0.26), and with a verbal task it was 1.36 m/s (SD 0.27). Multivariate genetic analysis showed that an additive genetic factor in common accounted for 17% of individual differences in MWS, 19% in MWSmanual, and 12% in MWSverbal. In addition, MWSverbal had a genetic factor specific to it accounting for 10% of the variance. Shared environmental influences, common to all three traits, accounted for 39%, 27%, and 21% of the individual differences, respectively. CONCLUSION: Approximately half of the individual differences in walking with or without another task were accounted for by genetic and nongenetic familial effects in common, and the rest of the variation was accounted for by unique environmental factors in common and factors specific to walking tests.
The array of Bacteroides gingivalis W83 antigens revealed by crossed immunoelectrophoresis includes one antigen that is associated with an erythrocyte-binding capacity, termed the hemagglutinating adhesin HA-Ag2. This antigen was excised from crossed-immunoelectrophoresis plates to produce two polyclonal antisera, VL 011 and WL 303, whose restricted specificity for HA-Ag2 was assessed using crossed immunoelectrophoresis, crossed immunoelectrophoresis with an intermediate gel, and crossed immunoaffinoelectrophoresis. Both antisera, when used to probe blots of an EDTA cell surface extract of B. gingivalis W83, reacted with two bands, at 33 and 38 kDa, which were also detected by a monoclonal antibody (Naito et al. 1985. Infect. Immun. 50: 231-235), specific for a hemagglutinin of B. gingivalis. Antiserum WL 303 was used to examined by immunoblotting the distribution of HA-Ag2 among a variety of human and animal strains of B. gingivalis. All human strains tested showed two major bands at 33 and 38 kDa in the EDTA cell surface extract, and at 43 and 49 kDa in outer membrane preparations. Only one band, at 29 kDa, was detected in EDTA cell surface extracts from the animal strains, while the outer membrane preparation of a single strain showed a positive reaction. We concluded that HA-Ag2 is an antigen common to human and animal strains of B. gingivalis and that its subunits may show heterogeneity in apparent molecular mass.
1. The closer muscles of the left and the right spiracles of a thoracic segment are both innervated by two motoneurones, which spike in a variety of patterns during expiration. This paper seeks to explain the origin of these patterns. 2. No direct coupling between the two motoneurones is revealed. In an isolated thoracic ganglion both motoneurones spike at different frequencies with no tendency for their spikes to become synchronized. 3. The two closer motoneurones in one segment receive common, patterned depolarizing synaptic potentials during expiration caused by interneurones relaying information from the metathoracic ganglion. 4. The closer motoneurones of all the thoracic segments receive the same pattern of synaptic potentials from these interneurones. Despite this, the spiracles of one segment may remain shut while those on other segments continue to open and close rhythmically. 5. The interplay between common synaptic driving, the threshold of the motoneurones for spike initiation, and the tendency for a motoneurone to spike at a particular frequency even in the absence of interneuronal driving, explains the various patterns of spikes during expiration. Common synaptic driving imposes the same basic pattern of commands on all the motoneurones, but the individual motoneurones determine the final pattern of motor spikes. 6. To be effective in producing a patterned output, an input pattern must operate within narrow limits on either side of the threshold of the motoneurone. If the depolarization is too large, a high frequency of unpatterned spikes will result; if too small, then either there will be no output or a low frequency of spikes will result whose patterning will be affected by other inputs.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Allelic variation of gene expression is common in humans, and is of interest because of its potential contribution to variation in heritable traits. To identify human genes with allelic expression differences, we genotype DNA and examine mRNA isolated from the white blood cells of 12 unrelated individuals using oligonucleotide arrays containing 8406 exonic SNPs. Of the exonic SNPs, 1983, located in 1389 genes, are both expressed in the white blood cells and heterozygous in at least one of the 12 individuals, and thus can be examined for differential allelic expression. Of the 1389 genes, 731 (53%) show allele expression differences in at least one individual. To gain insight into the regulatory mechanisms governing allelic expression differences, we analyze a set of 60 genes containing exonic SNPs that are heterozygous in three or more samples, and for which all heterozygotes display differential expression. We find three patterns of allelic expression, suggesting different underlying regulatory mechanisms. Exonic SNPs in three of the 60 genes are monoallelically expressed in the human white blood cells, and when examined in families show expression of only the maternal copy, consistent with regulation by imprinting. Approximately one-third of the genes have the same allele expressed more highly in all heterozygotes, suggesting that their regulation is predominantly influenced by cis-elements in strong linkage disequilibrium with the assayed exonic SNP. The remaining two-thirds of the genes have different alleles expressed more highly in different heterozygotes, suggesting that their expression differences are influenced by factors not in strong linkage disequilibrium with the assayed exonic SNP.
PURPOSE: To evaluate major geometric variations in multiple intracavitary applications for carcinoma of the cervix. MATERIALS AND METHODS: Orthogonal radiographs were reviewed of 17 consecutive patients with carcinoma of the cervix treated with 70 applications of high-dose-rate brachytherapy. In seven patients, conscious sedation was used for all applications. In 10 patients, general anesthesia was used for the first application and conscious sedation for subsequent applications. Major geometric variation between applications in axis, length, and slippage in tandem placement and separation, packing, and slippage in colpostats placement were reviewed. A major variation was defined as more than 1.0-cm deviation. RESULTS: Major variations between applications occurred more commonly in colpostats placement than in tandem placement. For tandems, the rates of variation were 5.7% in axis, 4.3% in length, and 1.4% in slippage. For colpostats, rates of variation were 7.1% in separation, 25.7% in vaginal packing, and 7.1% in slippage. No consistent pattern of variation was found between applications except in vaginal packing. CONCLUSION: Awareness of geometric variations should improve proper placement of intracavitary applicators for brachytherapy.
The lipopolysaccharides of the pathogenic Neisseria species are subject to structural variation owing to a combination of intrinsic changes in lipopolysaccharide (LPS) biosynthesis and external modification of the LPS molecule with sialic acid. This variation appears to control bacterial behaviour by altering their ability to interact with human cells and to evade host immune defences. This interconversion of LPS phenotypes, which is also observed during the natural infection, is probably due to environmental regulation of LPS biosynthesis superimposed on spontaneous changes in the DNA of distinct LPS loci. LPS variation may be a common strategy of mucosal pathogens to colonize and persist within the human host.
BACKGROUND: HPV16 is the most commonly detected genotype in cervical squamous cell carcinoma. E6 of HPV16 is a viral oncogene and has frequent DNA sequence variations whose encoded proteins have been shown to have heterogeneity in biochemical and biological properties. This study tried to establish whether the E6 variants derive from the infection pool or from spontaneous mutation in the host. MATERIALS AND METHODS: We combined the use of microdissection of multiple areas of tumor tissue, PCR-sequencing of HPV16 E6 and E5 genes and allele-specific amplification of PCR to analyze the E6 variations in four cases of cervical cancer (M4, M12, M13 and M23). RESULTS: We isolated two common (350G and 350T) and three rare (310G, 374T and 459C) E6 variations corresponding to five different E6 variants. The common E6 variations were always co-segregated with specific E5 variations. Both common variants persisted in all the four cases. Of three cases each had one additional rare E6 variant. CONCLUSION: The common E6 variants would derive from the infection pool, whereas the rare E6 variants may evolve from the mutation of either of the common E6 variants. This finding might have implications for the future study of natural HPV evolution, the design of viral vaccine and the carcinogenesis of cervical cancer.
All 62 coding exons of the ATM gene, along with 10-20 bases of the intronic region flanking each exon, were screened for DNA base sequence alterations by using denaturing high-performance liquid chromatography (DHPLC) in a series of 52 breast cancer patients. Six (12%) of these patients exhibited a total of eight different novel germ-line mutations that do not represent common polymorphisms. Of these, three patients possessed four nonconservative missense mutations while two conservative missense and two synonymous mutations were detected in the other three patients. In addition, 43 patients were found to have a total of 141 DNA sequence variations representing 21 different common polymorphisms and rare variants. An analysis of the relationship between the presence of a novel ATM mutation and either patient demographics or tumor properties demonstrated a significant difference between African Americans (3/7 = 43%) and other ethnic groups (3/45 = 7%, P = 0.026). None of the other characteristics examined was found to be related to mutation status.
OBJECTIVE: Our study correlated findings on hip MRI and MR arthrography with hip arthroscopy to assess the location, prevalence, and potential pitfall of a normal acetabular sublabral sulcus. MATERIALS AND METHODS: We retrospectively collected 58 hip MRI studies along with surgical reports in 58 patients who underwent hip arthroscopy over a 5-year period. Intraoperative photography (n = 23), radiography (n = 56), unenhanced MRI (n = 13), and MR arthrography (n = 54) studies were available for review. Two radiologists described hip anatomy on radiology studies with agreement by consensus. RESULTS: A normal posteroinferior sublabral groove was confirmed on available arthroscopy photographs in four (17.4%) of 23 hips. In each of these four patients, the anatomic sublabral groove correlated with apparent partial labral detachment on MR arthrography. On review of all studies, 13 hips (22.4%) without a posterior labral tear at surgery had imaging findings of a sublabral sulcus. The sulcus was not associated with acetabular dysplasia, which was radiographically noted in 12 cases (21.4%). Preoperatively, the sulcus was misdiagnosed as a tear in two cases. Labral tears were anterior or anterosuperior in 51 patients. CONCLUSION: A posteroinferior sublabral groove is a relatively common normal anatomic hip variation. If not recognized as normal, the sulcus may serve as a diagnostic pitfall on MR arthrography. Its location is distinct from most labral tears. We did not discover a sublabral sulcus at the anterior or anterosuperior acetabulum, the most common sites of labral injury.