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PubMed1991

Importance of using lung function regression equations appropriate for ethnic origin.

Functional residual capacity (FRC) can be assessed reliably in young children using a helium gas dilution technique. The aim of the present study was to determine if differences in lung volume are found in asthmatic children of different ethnic origins. Eighty-eight children were studied, 53 of Caucasian origin and 35 of Afro-Caribbean origin. Their median age was 6.1 years (range, 5.3-9.0 years). FRC measured by helium gas dilution is reported as a percentage of predicted for height, using a published regression equation as well as regression equations appropriate for the ethnic origin of the child. In the majority of both groups FRC was elevated above the ethnically appropriate regression equation for healthy children. The Caucasian children apparently had higher FRCs than the Afro-Caribbean children if comparing the absolute lung volume, and if lung volume was expressed as percent of predicted for height, by a regression equation uncorrected for ethnic origin (P less than 0.02). This difference disappeared when ethnically appropriate regression equations were used. We conclude that lung volumes are similar in asthmatic children of different ethnic origin and that it is important to use ethnically appropriate regression equations.

Asthma↗

PubMed1993

In vitro replication of plasmids containing human ribosomal gene sequences: origin localization and dependence on an aprotinin-binding cytosolic protein.

We previously investigated the role of an aprotinin-binding protein (ADR) in the initiation of DNA replication in isolated quiescent nuclei. In the present study, we have used a cell-free DNA replication system to test the ability of plasmid vectors which contain sequences from the human ribosomal RNA gene to serve as replicative templates in vitro when exposed to ADR-containing preparations. Significant dTTP incorporation was seen using DNA from either a 7-kb sequence in the 5' spacer region (CHE) or a 7-kb sequence which begins near the end of the 28S coding region and extends into the 3' spacer region (ADBB), while sequences from other regions of the rRNA gene mediated little or no dTTP incorporation. The characteristics of plasmid-directed dTTP incorporation indicate that most incorporation is due to DNA replication and not repair or damage-initiated processes. To conclusively demonstrate origin-dependent replication in the plasmid system and to further map replication origins, an approach was developed using ddGTP to restrict the length of daughter strands followed by hybridization of these replication products to restriction fragments spanning the putative origin region. This approach allowed us to identify replication origin activity apart from parent strand repair or synthesis initiated at random damaged sites. One of the origins was localized to a 1375-bp fragment within the 5' spacer region, and this fragment contains sequences homologous to those found in other replication origins.

Aprotinin↗

PubMed1997

Using distance matrices to choose between competing theories and an application to the origin of modern humans.

This paper examines competing theories for cases in which both the data and the hypotheses can be represented as distance matrices. A test due to Dow & Cheverud has been used for such comparisons in anthropology, but when data are spatially, temporally, or phylogenetically autocorrelated, this test may be far too liberal. We examine a classification procedure based on ratios of probabilities obtained from Mantel tests of the competing hypotheses and find that design matrices describing only lag-one connections and those eliminating common connections of competing hypotheses are the most informative. We apply this method to simulated gene-frequency data in a 7 x 7 chessboard representing a stepping-stone model and discriminate between alternative theories with a 7% misclassification rate. We also apply these techniques to the current controversy concerning the origin of anatomically modern humans by testing design matrices representing regional continuity and single African origins. The outcome for lag-one matrices and those showing only unique lag-one differences indicate that the single African origin of anatomically modern humans fits the distance matrix based on 165 characters of 83 fossil crania better than the competing theory. However, we also tested a design matrix describing single origin out of southwest Asia. This design matrix was clearly most similar to the data in all tested cases. These results make the regional-continuity theory a less likely explanation for the observed cranial differences than the two single-origin theories. Of these, single southwest Asian origins seems the more likely interpretation of the data.

Biological Evolution↗

PubMed1998

Transfer protein TraM stimulates TraI-catalyzed cleavage of the transfer origin of plasmid R1 in vivo.

Factors contributing directly to the cleavage of the conjugative transfer origin of plasmid R1 in Escherichia coli were investigated. The essential transfer protein TraM was identified as a necessary positive effector of the catalytic activity of TraI relaxase at the R1 transfer origin in the absence of protein TraY. The stimulatory effect of TraM on the cleavage reaction in vivo correlated with the capacity of TraM to bind origin DNA. TraM was shown to be essential for heterologous mobilization of recombinant origin DNA. The requirement for TraM to promote mobilization was distinct from the protein's positive effect on transfer gene regulation. Chimeric traM alleles, fusing heterologous amino and carboxyl coding sequences from the traM genes of the R1 and the IncFI plasmid P307, were used to localize the specificity determinant of TraM's DNA binding activity. Use of the chimeric alleles also revealed that the requirement for TraM in mobilization is origin specific but transfer system independent. No evidence was found for a plasmid specific activity of TraM at a stage in the transfer process subsequent to the initial cleavage of origin DNA. In light of TraM's regulatory functions in transfer gene expression, we propose that TraM could control conjugative DNA processing in response to intracellular levels of transfer proteins.

Bacterial Proteins↗

PubMed1993

Parental origin of triploidy in human fetuses: evidence for genomic imprinting.

Two distinct phenotypes of triploid fetuses have been previously described and a correlation with parental origin of the triploidy has been suggested. We have studied the parental origin of the extra haploid set of chromosomes in nine triploid fetuses using analysis of DNA polymorphisms at a variety of loci. Maternal origin of the triploidy (digyny) was demonstrated in six fetuses with type II phenotype, paternal origin (diandry) in two cases with type I phenotype, and nonpaternity in one case. The predominance of digynic triploids in our study contrasts with the results reported in previous studies in which, through analysis of cytogenetic polymorphisms, paternal origin was found to account for the majority of triploid conceptuses. This difference may be accounted for by a combination of factors--the different methods of parental assignment used and analysis of a different subset of triploid conceptuses. The correlation between the observed phenotypes and the parental origin of triploidy may represent another example of imprinting in human development.

Abnormalities, Multiple↗

PubMed1977

Parental origin of the extra chromosome in Down's syndrome.

Chromosome 21 fluorescent heteromorphisms were studied in 42 patients with Down's syndrome, their parents and their siblings. Included in this number are two instances of an aunt and niece affected with trisomy 21, and one of affected siblings. One case has a de novo 21/21 translocation. Blood group, red cell and serum protein markers were also studied for linkage, gene exclusions, associations, and paternity testing. Thirty-one of the trisomy 21 cases were informative for parental origin of the extra chromosome and for stage of meiosis. The non-disjunctional event was of maternal origin in 24; 23 occurred in meiosis I, 1 in meiosis II. Seven were of paternal origin; 5 in meiosis I, and 2 in meiosis II. The translocation case was of paternal origin. A literature search revealed a total of 98 cases informative for the parent of origin of the extra chromosome, of greater than 347 families tested. In addition, 3 de novo translocation cases, of 7 tested, were informative. The data suggest that most cases result from an error in the first meiotic division in the mother, but that a significant proportion are paternal in origin.

Adult↗

PubMed1994

Permeabilization of cells of hemopoietic origin by extracellular ATP4-: elimination of osteoclasts, macrophages, and their precursors from isolated bone cell populations and fetal bone rudiments.

Skeletal tissues contain, apart from cells of the osteogenic and chondrogenic lineage, cells of hemopoietic origin, e.g., macrophages, osteoclasts, and their precursors. In the present study we examined the sensitivity for extracellular ATP4- of the above-mentioned cell types in freshly isolated, bone-derived cell populations and in explanted fetal metatarsal bones. Cells of hemopoietic origin reacted to the presence of ATP4- with an increased permeability for impermeant cytotoxic molecules, e.g., ethidium bromide (EB), thiocyanate (KSCN), and an increased non-ion selective membrane conductance. As a consequence, these cells could be killed by a short treatment with adenosine-5' triphosphate (ATP)+KSCN. On the other hand, cells of nonhemopoietic origin (e.g., osteoblasts, chondrocytes) were found to be insensitive to ATP4- in this respect. These cells survived the treatment without apparent damage to their alkaline phosphatase activities, osteogenic potentials, and osteoclast induction capacities. The elimination of the endogenous cells of hemopoietic origin from bone tissue or cell populations derived therefrom offers the possibility to study the properties and functions of osteogenic or chondrogenic cells without interference by the presence of cells of hemopoietic origin. It also allows the study of interactions between osteogenic cells and selected cell populations of hemopoietic origin in coculture experiments.

Adenosine Triphosphate↗

PubMed1993

Difficulties in examination of the origin of the vertebral artery by duplex and colour-coded Doppler sonography: anatomical considerations.

Despite progress in ultrasonographic techniques visualisation of the origin of the vertebral arteries, particularly the left, by duplex and colour Doppler imaging, still poses a problem in a significant number of patients. In anatomical and radiological studies we demonstrated an anomalous origin in 6%, the left vertebral artery originating directly from the aorta in most cases. The origin from the subclavian artery was found to be posterior in 44% and inferior in 6%. The V1 segment of the vertebral artery (from its origin to the entry into the foramen transversarium) was tortuous in 47% of cases. These anatomical variants and variations in the course of the vessel contribute to the nonvisualisation of the origin of the vertebral artery by duplex and colour Doppler imaging. With respect to tortuosities technical modifications for better visualisation are suggested and possible implications for surgery are discussed.

Aged↗

PubMed1993

Introduction of YACs containing a putative mammalian replication origin into mammalian cells can generate structures that replicate autonomously.

Yeast artificial chromosomes (YACs) containing or lacking a biochemically defined DNA replication origin were transferred from yeast to mammalian cells in order to determine whether origin-dependent autonomous replication would occur. A specialized YAC vector was designed to enable selection for YACs in mammalian cells and for monitoring YAC abundance in individual mammalian cells. All of eight clones made with linear and circularized YACs lacking the origin and seven of nine clones made with linear and circularized YACs containing the origin region contained single copies of the transfected YAC, along with various amounts of yeast DNA, integrated into single but different chromosomal sites. By contrast, two transformants derived from circularized YACs containing the putative replication origin showed very heterogeneous YAC copy number and numerous integration sites when analyzed after many generations of in vitro propagation. Analysis of both clones at an early time after fusion revealed variously sized extrachromosomal YAC/yeast structures reminiscent of the extrachromosomal elements found in some cells harboring amplified genes. The data are consistent with the interpretation that YACs containing a biochemically defined origin of replication can initially replicate autonomously, followed by integration into multiple chromosomal locations, as has been reported to occur in many examples of gene amplification in mammalian cells.

Adenosine Deaminase↗

PubMed1998

[High frequency current ablation of ectopic atrial tachycardia. Different mapping strategies for localization of right- and left-sided origin].

UNLABELLED: Ectopic atrial tachycardia (EAT) is a rare form of supraventricular tachycardia and often drug-resistant. Radiofrequency catheter (RFC) ablation offers an alternative therapy suggesting a high efficacy rate. Localization of the EAT origin is proposed to be efficacious by various mapping strategies. We analyzed the efficacy of different mapping strategies for localization of right and left sided EAT foci. METHODS AND PATIENTS: In a cohort of 48 patients (25 female: age 35 +/- 18 years) RFC ablation of 40 right and 12 left sided EAT foci was performed. Mapping of the right atrium was achieved with 2 ablation catheters using the "encircling" technique (Figure 1). We looked for an early bipolar local electrogram in relation to the onset of the P-wave and a QS-complex in the unipolar electrogram. The bipolar local electrogram was retrospectively analyzed for a fragmented morphology and duration of more than 50 ms (Figure 3). In case of mechanical block of the EAT during mapping P-wave pace mapping over the mapping catheter was performed (Figure 4). RESULTS: RFC ablation succeeded in 44 patients with 46 EAT foci (Figure 5). Left sided EAT origin was in 40% in the region of the pulmonary veins. Two left sided foci were abladed within the coronary sinus. An anteroseptal location in vicinity to the bundle of His was found in 4 cases (Figure 6). There were no differences between left and right sided origin regrading session duration (304 +/- 131 vs 241 +/- 101 min) and fluoroscopic time (39 +/- 29 vs 31 +/- 19 min). The activation time related to the onset of the P-wave was at successful ablation site for left sided origin significantly earlier compared to a right sided origin (45 +/- 22 vs 30 +/- 18 ms). Fragmenation of the bipolar local electrogram was found before successful RFC application in 86% in the left and in 65% in the right atrium. The unipolar electrogram showed in 87% of all cases a QS-complex before the successful RFC pulse. In 16% a beat to beat change of the unipolar electrogram could be found at successful ablation site (Figure 7). Both criteria had a low specify and sensitivity. Mechanical block could be induced during mapping in 10 patients (20%). In these cases RFC application at a site with a perfect match of P-wave pace mapping succeeded in 8 patients. In 2 patients the same EAT occurred within the following 24 hours. During a follow-up of 4 to 58 months there were additionally recurrence of EAT in 3 patients (3 to 6 months after ablation). No influence of the AV nodal conduction was observed after ablation of anteroseptal EAT foci. Other acute or chronic complications were not observed. CONCLUSIONS: 1. RFC ablation of right and left sided EAT foci is a safe and efficacious treatment. There were no differences regarding session duration and fluoroscopic time between right and left sided foci. 2. Activation mapping showed an earlier activation time for left sided origin compared to right sided. 3. Mechanical block could be induced in 20% of cases. P-wave pace mapping might offer a strategy to localize the focus during mechanical block.

Adolescent↗

PubMed2002

A randomized, double-masked, crossover comparison of the efficacy and safety of botulinum toxin type A produced from the original bulk toxin source and current bulk toxin source for the treatment of cervical dystonia.

In 1997, the US FDA approved a new bulk toxin source (now referred to as current) for the manufacture of botulinum toxin type A (BTX-A). The current BTX-A preparation has a lower neurotoxin complex protein load than the original BTX-A preparation, which may reduce antigenic potential. The present double-masked, multicenter study compared the efficacy and safety of BTX-A (BOTOX) produced from both original and current bulk toxin sources for the treatment of cervical dystonia. Patients (N = 133) were injected with BTX-A produced from original and current bulk toxin sources using a crossover design. Adverse events were assessed at each visit. Efficacy was assessed at 2 and 6 weeks post-injection using the severity and pain-disability subscales of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Mean BTX-A doses were comparable (original: 155 U, current: 156 U). Both BTX-A preparations produced similar, statistically significant reductions in TWSTRS severity and pain-disability scores at weeks 2 and 6 post-injection. The original and current BTX-A preparations showed no significant differences in adverse events, including both treatment-related (34%, 31%) and treatment-unrelated (27%, 32%), respectively. BTX-A produced from the original and current bulk toxin sources showed comparable efficacy and safety in the treatment of cervical dystonia; both significantly reduced dystonia severity and pain.

Botulinum Toxins, Type A↗

PubMed2000

Social class of origin and cardinal symptoms of schizophrenic disorders over the early illness course.

BACKGROUND: This study describes the relationship of social class of origin to cardinal symptoms of schizophrenic disorders over the early illness course. METHOD: The sample of subjects was drawn from the Suffolk County Mental Health Project, a longitudinal epidemiologic study of first-hospitalized subjects with psychotic disorders; the present study focused on patients with schizophrenic disorders. At baseline, subjects were dichotomized into upper/middle and lower social class of origin groups, based on occupation of the head of the household of origin. The patients in both groups were assessed for the major symptoms of schizophrenic disorders using standard structured instruments at both baseline and 6-month follow-up. The 6-month symptom severity levels were compared between the groups, controlling for baseline symptom status and potential confounders. RESULTS: At 6-month follow-up, the upper/middle social class of origin group, as compared to the lower social class of origin group, had lower symptom levels for hallucinations (adjusted OR = 4.88, chi2 = 8.49, P = 0.004) and delusions (adjusted OR = 2.46, chi2 = 4.16, P = 0.04). There were no notable group differences for any of the negative or thought disorganization symptoms. CONCLUSIONS: Social class of origin is associated with positive symptoms of schizophrenia over the early illness course.

Adult↗

PubMed1998

Low glutathione pools in the original pso3 mutant of Saccharomyces cerevisiae are responsible for its pleiotropic sensitivity phenotype.

The original pso3-1 mutant isolate of the yeast Saccharomyces cerevisiae exhibits a pleiotropic mutagen-sensitivity phenotype that includes sensitivity to UVA-activated 3-carbethoxypsoralen, to UVC-light, to mono- and bi-functional nitrogen mustard, to paraquat, and to cadmium; on the other hand, it shows hyper-resistance (HYR) to nitrosoguanidine when compared to established wild-type strains. Also, the original pso3-1 mutant exhibits a low UVC-induced mutability and mitotic gene conversion and a high rate of spontaneous and UVC-induced petite mutations. Since the HYR to the nitrosoguanidine (MNNG) phenotype resembles that of low glutathione-containing yeast cells, the original pso3-1 mutant was crossed to a gsh1 knock-out mutant that lacks the enzyme for the first step in glutathione biosynthesis and the resulting diploid was tested for complementation. While there was none for HYR to nitrosoguanidine, and other low glutathione-related phenotypes, some other phenotypic characteristics of pso3-1, e.g. UVC sensitivity and UVC-induced mutability were restored to a wild-type level. Tetrad analysis of a diploid derived from a cross of the original haploid pso3-1 isolate with a repair-proficient, normal glutathione-containing, PSO3 GSH1 wild-type led to the separation of a leaky gsh1 mutation phenotype from that of the repair-deficient pso3-1 phenotype. Linkage studies by tetrad and random spore analyses indicated no linkage of the two genes. This shows that the low glutathione content in the original pso3-1 isolate is due to a second, additional, mutation in the GSH1 locus and is unrelated to the pso3-1 mutation. Thus, the original pso3-1 isolate is a pso3-1 gsh1 double mutant with most of the particular characteristics of the pleiotropic sensitivity phenotype contributed by either the pso3-1 or the gsh1-leaky mutant allele. The expression of a few phenotypic characteristics of pso3, however, were most pronounced in pso3-1 mutants with a low glutathione pool.

Fungal Proteins↗

PubMed2002

The diagnostic significance of the 3D-reconstructed MRI in vestibular schwannoma surgery: prediction of tumor origin.

In hearing preservation surgery for the treatment of vestibular schwannoma (VS), one of the important factors is the determination of the origin of VS. In this study, we investigated the diagnostic significance of using an MRI obtained by the three-dimensional Fourier transform fast spin-echo technique (3D-reconstructed MRI) in order to determine the origin of VS. The subjects consisted of 20 patients with mainly intra-canalicular sized VS who underwent tumor removal at our hospital. The origin of VS was determined from the 3D-reconstructed MRI findings and the results of the caloric test. These findings were then compared with the surgical findings. In 15 out of 20 patients, the MRI findings closely corresponded to the surgical ones, while the origin of VS hardly could be detected when a tumor filled up to the fundus acoustics on the MRI findings of the axial sections. On the other hand, 6 out of 15 patients (40%) whose tumor originated from the inferior vestibular nerve showed canal paresis. In conclusion, 3D-reconstructed MRI is considered to be helpful in obtaining more precise information regarding the origin of VS compared to the caloric test.

Caloric Tests↗

PubMed2006

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man.

We report the parental origin, and where possible the chromosomal origin of 115 de novo unbalanced structural chromosome abnormalities detectable by light microscopy. These consisted of 39 terminal deletions, 35 interstitial deletions, 8 rings, 12 duplications and 21 unbalanced translocations. In all categories the majority of abnormalities were of paternal origin, although the proportions varied from a high of 84% in the interstitial deletions and rings to a low of 58% in the duplications. Among the interstitial deletions and duplications, there were approximately equal numbers of intra- and interchromosomal abnormalities, while the majority of unbalanced translocations were isodisomic for the duplicated chromosome. The examination of the parental ages in the four main classes of abnormality showed terminal deletions of maternal origin to be associated with a significantly reduced maternal age. Thus, there is a clear propensity for structural chromosome abnormalities to occur in male germ cells, although the chromosomal origin seems similar irrespective of the parental origin.

Chromosome Aberrations↗

PubMed2000

Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21.

Trisomy 21 (Down syndrome) is one of the most common chromosomal abnormalities. Of cases of free trisomy 21 causing Down syndrome, about 95% result from nondisjunction during meiosis, and about 5% are due to mitotic errors in somatic cells. Previous studies using DNA polymorphisms of chromosome 21 showed that paternal origin of trisomy 21 occurred in only 6.7% of cases. However, these studies were conducted in liveborn trisomy 21-affected infants, and the possible impact of fetal death was not taken into account. Using nine distinct DNA polymorphisms, we tested 110 families with a prenatally diagnosed trisomy 21 fetus. Of the 102 informative cases, parental origin was maternal in 91 cases (89.2%) and paternal in 11 (10.8%). This percentage differs significantly from the 7.0% observed in previous studies (P<0.001). In order to test the influence of genomic parental imprinting, we determined the origin of the extra chromosome 21 in relation to different factors: advanced maternal age, maternal serum human chorionic gonadotropin (hormone of placental origin), severity of the disease, gestational age at diagnosis and fetal gender. We found that the increased frequency of paternal origin of nondisjunction in trisomy 21-affected fetuses cannot obviously be explained by factors leading to selective loss of paternal origin fetuses.

Adult↗

PubMed2000

The parental origin of new mutations in neurofibromatosis 2.

Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by schwannomas and meningiomas that develop after inactivation of both copies of the NF2 gene. Approximately half of all patients with NF2 have unaffected parents and the disease results from new mutations at the NF2 locus. Loss of heterozygosity (LOH) in tumor specimens due to deletions covering the normal NF2 allele can be used to infer the haplotypes surrounding underlying mutations and determine the allelic origin of new mutations. We studied 71 sporadic NF2 patients using both LOH and pedigree analysis and compared the parental origin of the new mutation with the underlying molecular change. In the 45 informative individuals, 31 mutations (69%) were of paternal and 14 (31%) were of maternal origin (P=0.016). Comparison with corresponding constitutional mutations revealed no correlation between parental origin and the type or location of the mutations. However, in 4 of 6 patients with somatic mosaicism the NF2 mutation was of maternal origin. A slight parent of origin effect on severity of disease was found. Further clinical and molecular studies are needed to determine the basis of these unexpected observations.

Adolescent↗

PubMed1976

Phospholipid acyl group stability in cultured fibroblasts. Differences between human cell lines of fetal and adult origin.

Human fibroblasts of both fetal and adult origin incorporated [1-14C] acetate primarily into phospholipid acyl groups (70-80% of total radioactivity). When these labeled cells were replated in non-radioactive medium, there was continuous loss of 14C from steroids, triacylglycerols and non-lipid material. In contrast, after some initial loss, cell lines of fetal origin completely retained 14C in cellular phospholipids during continued cell division. Unlike cells of fetal origin, fibroblasts of adult origin continued to lose radioactivity from their phospholipid acyl groups during growth in unlabeled medium. Loss of radioactivity from [1-3H] acetate incorporated into phospholipids of adult cells cannot be attributed to cell death since it was not accompanied by any loss of previously incorporated [ME-14C] thymidine. If cellular phospholipids were labeled with [U-14C] glycerol, both fetal and adult fibroblasts continued to lose radioisotope from the cells during growth in nonradioactive medium. Thus, there is turnover of the phospholipid molecules themselves in fetal human fibroblasts grown in vitro, but their acyl groups are retained within cellular phospholipids. In this respect, fibroblasts of fetal origin resemble established cell lines such as the L fibroblast. Fibroblasts of adult origin do not exhibit this complete conservation of their phospholipid acyl groups.

Acetates↗