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At least 451 records · Page 25Linked to original sources
PubMed1992

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

We have generated and characterized cDNA clones providing the complete amino acid sequence of the human type IV collagen chain whose gene has been shown to be mutated in X chromosome-linked Alport syndrome. The entire translation product has 1,685 amino acid residues. There is a 26-residue signal peptide, a 1,430-residue collagenous domain starting with a 14-residue noncollagenous sequence, and a Gly-Xaa-Yaa-repeat sequence interrupted at 22 locations, and a 229-residue carboxyl-terminal noncollagenous domain. The calculated molecular weight of the mature alpha 5(IV) chain is 158,303. Analysis of genomic DNA from members of a kindred with Alport syndrome revealed a new HindIII cleavage site within the coding sequence of one of the cDNA clones characterized. The proband had a new 1.25-kilobase HindIII fragment and a lack of a 1.35-kilobase fragment, and his mildly affected female cousin had both alleles. The mutation which was located to exon 23 was sequenced from a polymerase chain reaction-amplified product, and shown to be a G----T change in the coding strand. The mutation changed the GGT codon of glycine 521 to cysteine. The same mutation was found in one allele of the female cousin. The results were confirmed by allele-specific hybridization analyses.

Adolescent↗
PubMed2002

The DSM-IV Text Revision: rationale and potential impact on clinical practice.

One consequence of the longer interval between major revisions of the DSM(from seven years between DSM-III-R and DSM-IV to more than 15 years between DSM-IV and DSM-V) is that the accompanying descriptive text will become increasingly out of step with the psychiatric database. To remedy this problem, the DSM-IV Text Revision (DSM-IV-TR) was published in July 2000. The main objectives of the revision were to review the DSM-IV text and make changes to reflect information newly available since the close of the initial DSM-IV literature review process in mid-1992; to correct errors and ambiguities that have been identified in DSM-IV; and to update the diagnostic codes to reflect changes in the ICD-9-CM coding system the U.S. government uses officially for health care reporting. This paper reviews the rationale for the text revision and describes changes that may have an impact on the day-to-day use of DSM-IV.

Guidelines as Topic↗
PubMed1987

The structure and evolution of immunoglobulin kappa chain constant region genes in the genus Rattus.

We have cloned and sequenced the C-kappa (Ck) genes from seven species and subspecies of rats which have diverged over the past few million years in Australia. Comparisons of these sequences with each other and the Ck genes of the laboratory rat, Rattus norvegicus, indicate noncoding regions have accumulated fewer mutations than adjacent coding sequences, and amino acid replacing nucleotide substitutions in the coding regions have accumulated at a rate at least as great as silent changes. Exactly the opposite of both of these findings is observed when comparisons are made between Ck or other genes from more distantly related species, indicating that these features may be characteristic of Ck short-term evolutionary gene divergence. Changes in the coding regions of these genes result in a non-random distribution of amino acid substitutions on the three-dimensional alpha-carbon backbone of the Ck domain in the most serologically distinct forms of Ck. While phylogenetic relationships inferred from the Ck nucleotide sequences are in general agreement with those derived from other data, considerable differences are seen in rates of accumulation of Ck gene nucleotide substitutions vs rates of accumulation of enzyme polymorphisms.

Alleles↗
PubMed1997

Perceived continuity of self in very old age.

Little is known about how the changes of very late life affect identity. One hundred fifty of the oldest old were asked how they thought they had changed over the years and how they had remained the same. Responses were coded for perceived change in both core self ("I") and self-descriptors ("me"). Almost all the respondents thought they were still essentially the same person ("I"), and although they could point to ways in which they had changed in specific characteristics of self-concept ("me"), there was considerable stability in that as well. Also, not all the changes identified were negative. Perceived continuity was related to positive affect but apparently not to either recent disruptive events or mortality.

Activities of Daily Living↗
PubMed1993

Is the cold chain for vaccines maintained in general practice?

OBJECTIVE: To investigate the cold chain for vaccines and compliance with the local code of practice for storage. DESIGN: In a random sample of general practices orders for live vaccines (oral polio and measles, mumps, and rubella) were accompanied by a cold chain monitor which was activated on leaving the supplying pharmacy. The monitors were read at specified intervals and when all vaccines in the order had been used. Structured interview was used to check compliance with the local code of practice on storage. SETTING: West Berkshire and Aylesbury Vale district health authorities. SUBJECTS: 16 (25%) general practices in West Berkshire, and 13 (50%) in Aylesbury Vale. MAIN OUTCOME MEASURES: Compliance with code of practice. Changes in the cold chain monitor. RESULTS: For six key requirements within the code of practice compliance varied from 70% to 0%. Only 16 of 29 practices had a named person responsible for vaccine storage and only four were aware of the local code of practice. Vaccine was stored for longer and more breaks in the cold chain occurred in West Berkshire than in Aylesbury Vale. The potency of some vaccines in 10 of 26 orders became suspect before use. CONCLUSIONS: Knowledge of appropriate management of the cold chain in two districts was poor. Breaks in the chain were more frequent and compromised potency more likely when vaccine had been stored for more than eight weeks. Problems in maintaining the cold chain indicate the need for continuing audit, which should become a prerequisite for payments to general practitioners for immunisation.

Cold Temperature↗
PubMed1984

Kappa-chain constant-region gene sequences in genus Rattus: coding regions are diverging more rapidly than noncoding regions.

We have determined the nucleotide sequence of a 1,200-base pair (bp) genomic fragment that includes the kappa-chain constant-region gene (C kappa) from two species of native Australian rodents, Rattus leucopus cooktownensis and Rattus colletti. Comparison of these sequences with each other and with other rodent C kappa genes shows three surprising features. First, the coding regions are diverging at a rate severalfold higher than that of the nearby noncoding regions. Second, replacement changes within the coding region are accumulating at a rate at least as great as that of silent changes. Third, most of the amino acid replacements are localized in one region of the C kappa domain--namely, the carboxy-terminal "bends" in the alpha-carbon backbone. These three features have previously been described from comparisons of the two allelic forms of C kappa genes in R. norvegicus. These data imply the existence of considerable evolutionary constraints on the noncoding regions (based on as yet undetermined functions) or powerful positive selection to diversify a portion of the constant-region domain (whose physiological significance is not known). These surprising features of C kappa evolution appear to be characteristic only of closely related C kappa genes, since comparison of rodent with human sequences shows the expected greater conservation of coding regions, as well as a predominance of silent nucleotide substitutions within the coding regions.

Animals↗
PubMed1992

[Abortion in the penal code].

Before discussing the change of legal norms it is necessary to know the actual law. The paper shows the West-German penal code and it's application in respect of the pregnant women, the physician and third persons.

Abortion, Legal↗
PubMed2001

Mutations in the preproghrelin/ghrelin gene associated with obesity in humans.

Ghrelin and preproghrelin sequences were determined in 96 unrelated female subjects with severe obesity (mean body mass index (BMI) 42.3 +/- 3.4 kg/m(2)) and in 96 non-obese female controls (mean BMI 23.0 +/- 1.4 (kg/m2) of the Swedish Obese Subjects cohort. A mutation at amino acid position 51 (Arg51Gln) of the preproghrelin sequence that corresponds to the last amino acid in mature ghrelin product was identified in six (all heterozygotes) obese subjects (6.3%) but not among controls (p < 0.05). The self-reported weight at 20, 30, and 40 years of age tended to be 7.5, 4.7 and 6.4 kg lower, respectively, among obese Gln allele carriers versus obese non-carriers. In addition, a mutation at codon 72 of the preproghrelin gene (Leu72Met) was detected in 15 obese (12 hetero- and 3 homozygotes) and 12 control (all heterozygotes) subjects. This mutation outside the coding region of the mature ghrelin product tended to be associated with lower age of self-reported onset of obesity (15.6 +/- 7.9 vs. 20.5 +/- 10.5 years; p = 0.09). In addition to these two mutations in coding regions, a G274A base change in a non-coding region between exons one and two was found only in two obese individuals. The Arg51Gln amino acid substitution may alter the cleavage site of endoproteases and the length of the mature ghrelin product. The functional significance of the Leu72Met mutation and a G274A base change remains to be determined. In conclusion, the data provide evidence that a low frequency sequence variation in the ghrelin gene could play a role in the etiology of obesity.

Adult↗
PubMed1994

Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.

Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inherited GH receptor deficiency (GHRD; Laron syndrome) from five continents. All the mutations are located in the extracellular domain of the receptor and are predicted to cause gross structural abnormalities and non-functional receptor molecules. They include three nucleotide changes in the coding region causing translational stop signals, including the newly identified E183X mutation; two nucleotide changes in introns that affect splice junctions; two dinucleotide deletions that result in stop codons downstream; and one single nucleotide change that activates a donor splice site within an exon and results in a transcript missing 24 nucleotides. This latter mutation (E180splice) was first identified in a cohort of patients with GHRD from southern Ecuador. Based on the fact that the E180splice mutation generates a new cleavage site for the restriction enzyme MnlI, a simple diagnostic test has been developed that can be carried out on dried blood spots collected on filter paper. A total of 55 affected individuals from Ecuador has been found to be homozygous for this mutation. Asymptomatic carriers can also be detected, and 104 of 150 individuals screened were found to be carriers. Using this test, the E180splice mutation has recently been detected in one of two oriental Jewish patients from Israel.

Base Sequence↗
PubMed1990

How much change in the case mix index is DRG creep?

We re-abstracted a nationally representative sample of 7,887 Medicare charts to determine how much of the change in Medicare's Case Mix Index between 1986 and 1987 was true change in the complexity of cases and how much was upcoding or 'DRG creep'. About two-thirds of the change is true. Most of the remaining third is attributable to a general change in the completeness of coding; some is attributable to changes in the Grouper program. Thus, most of the additional $1 billion paid to hospitals because of the Case Mix Index change appears justified by the additional complexity of patients hospitalized.

Abstracting and Indexing↗
PubMed1986

Cloning and expression of human lymphotoxin mRNA derived from a human T cell hybridoma.

We cloned human lymphotoxin (LT) cDNA from a cDNA library prepared from phorbol myristate acetate (PMA) and Con A-stimulated human T cell hybridoma (AC5-8) cells, The nucleotide sequence of the cDNA insert in the plasmid, pLT13, was determined and compared with those of peripheral blood mononuclear cell derived LT cDNA and the LT gene. Four stretches, containing 14 nucleotides in total, were different among the three sequences. The differences included one base change from C to A in the coding region. Because this change was expected to result in a change in the amino acid at position 26 from Thr to Asn, we constructed an E. coli expression plasmid (pLT13tac6-8.2) and a mammalian cell expression plasmid (pSV2-LT) in order to confirm that pLT13 contains the coding sequence of human LT. Both plasmids were found to synthesize active LT molecules after transfection into JM105 and COS-1 cells, respectively, and their lytic activities were found to be completely neutralized by anti human LT serum. Using an insertion mutant and a deletion mutant, we examined the role of the C terminal domain in the LT activity. The results obtained strongly suggested that the intactness of the C terminal less than 10 residues is required for the LT activity.

Amino Acid Sequence↗
PubMed1994

tRNA structure and ribosomal function. II. Interaction between anticodon helix and other tRNA mutations.

Using multiply mutated tRNA genes, we have studied unusual coding by tRNAs that have altered nucleotides (nt) 27-43, which normally form the top base-pair of the anticodon helix. In vivo, nt 27-43 mutations accelerate non-canonical C-A coding at the third (3') codon position 14-fold, similar to the 40-fold stimulation originally shown for first (5') codon position non-canonical G-U pairing. Thus the effects of nt 27-43 generalize to a second type of unusual coding. Nt 27-43 changes have a similar relative effect on tRNA level, aminoacylation, and ribosomal activity, despite concurrent changes of the 3' anticodon nucleotide which alter coding. However, under conditions of efficient aminoacylation, only a fraction of these (potential missense) anticodon changes can be recovered, suggesting toxicity. Available data support the idea that the effects of nt 27-43 are not particular to one codon. A previously isolated D-arm mutation (G24A) has a similar coding effect, enhancing both first position G-U wobble up to 130-fold, the third position C-A mispairing 40-fold. Anticodon helix mutations at 27-43 have little effect on 3' or 5' miscoding in the presence of the G24A D-arm mutation, and reciprocally, the D-arm's effects are much diminished in the presence of the anticodon helix mutations. Because these two tRNA loci alter both types of aberrant coding, and because they are highly interdependent, they may exploit a similar mechanism, dependent on a similar effect on tRNA conformation. We suggest a relatively non-specific decrease in the ribosomal rejection rates for tRNAs altered at anticodon helix nucleotides 27 and 43. Thus coding via non-canonical pairings at both 5' and 3' ends of the codon-anticodon helix has a measurable rate in vivo. However, we find that normal tRNA structure minimizes the efficiency of this aberrant translation. To put these same findings in another light, tRNAs bearing identical anticodons, if altered in structure elsewhere, may translate the genetic code differently.

Anticodon↗
PubMedDate not supplied

Changes in hepatic perfusion after administration of hydroxyethyl starch in intensive care patients assessed using color-coded Doppler sonography.

Using color-coded Doppler sonography (CCDS), changes in the resistance index of the hepatic artery (HA-RI) and in the velocities of the hepatic artery, portal and splenic vein (HA-V, PV-V, SV-V) were measured after administration of hydroxyethyl starch (HES) in 50 intensive care patients. PV-V and SV-V increased, whereas HA-V and HA-RI remained unchanged. CCDS is suitable to assess liver perfusion in intensive care patients. Since HES enhances splanchnic perfusion, its application improves hepatic perfusion in intensive care patients.

Blood Flow Velocity↗
PubMed1996

Amber suppression in mammalian cells dependent upon expression of an Escherichia coli aminoacyl-tRNA synthetase gene.

As an approach to inducible suppression of nonsense mutations in mammalian and in higher eukaryotic cells, we have analyzed the expression of an Escherichia coli glutamine-inserting amber suppressor tRNA gene in COS-1 and CV-1 monkey kidney cells. The tRNA gene used has the suppressor tRNA coding sequence flanked by sequences derived from a human initiator methionine tRNA gene and has two changes in the coding sequence. This tRNA gene is transcribed, and the transcript is processed to yield the mature tRNA in COS-1 and CV-1 cells. We show that the tRNA is not aminoacylated in COS-1 cells by any of the endogenous aminoacyl-tRNA synthetases and is therefore not functional as a suppressor. Concomitant expression of the E. coli glutaminyl-tRNA synthetase gene results in aminoacylation of the suppressor tRNA and its functioning as a suppressor. These results open up the possibility of attempts at regulated suppression of nonsense codons in mammalian cells by regulating expression of the E. coli glutaminyl-tRNA synthetase gene in an inducible, cell-type specific, or developmentally regulated manner.

Amino Acyl-tRNA Synthetases↗
PubMedDate not supplied

Calcium regulation and contractile dysfunction of smooth muscle.

A brief overview of recent findings of abnormal contractile function of smooth muscle under several selected pathophysiological conditions is presented and related to the dysfunction of the control of cytosolic calcium ion concentration, [Ca2+]. In diabetes mellitus (DM), contractile abnormalities depend on the animal species, vascular segments, mode of the induction of DM, and the period after the induction of DM. The abnormal contractile responses are frequently related to altered Ca2+, membrane transduction and the production and action of intracellular second messengers. The hypertensitive and/or hyperreactive contractile responses of airway smooth muscle in asthma inflammation represent a complex chronic consequence of actions of many cells and mediators. Chronic asthmatic disease seems to be associated with altered Ca2+ handling via changes in gene coding for receptors, enzymes and regulatory proteins, thus contributing to abnormal responsiveness and cell growth. Similarly, changes of contractile function of vascular smooth muscle commonly observed in chronic hypertension have long been recognized to be intimately associated with abnormal handling of Ca2+ at the level of subcellular membranes, isolated cells and intact vascular tissues. However, the subcellular sites of membrane abnormalities remain disputable.

Animals↗
PubMed1985

A hardware interpretation of the evolution of the genetic code.

A quantitative rationale for the evolution of the genetic code is developed considering the principle of minimal hardware. This principle defines an optimal code as one that minimizes for a given amount of information encoded, the product of the number of physical devices used by the average complexity of each device. By identifying the number of different amino acids, number of nucleotide positions per codon and number of base types that can occupy each such position with, respectively, the amount of information, number of devices and the complexity, we show that optimal codes occur for 3, 7 and 20 amino acids with codons having a single, two and three base positions per codon, respectively. The advantage of a code of exactly 4 symbols is deduced, as well as a plausible evolutionary pathway from a code of doublets to triplets. The present day code of 20 amino acids encoded by 64 codons is shown to be the most optimal in an absolute sense. Using a tetraplet code further evolution to a code in which there would be 55 amino acids is in principle possible, but such a code would deviate slightly more than the present day code from the minimal hardware configuration. The change from a triplet code to a tetraplet code would occur at about 32 amino acids. Our conclusions are independent of, but consistent with, the observed physico-chemical properties of the amino acids and codon structures. These correlations could have evolved within the constrains imposed by the minimal hardware principle.

Amino Acids↗
PubMed1995

Molecular genetics of the ABO histo-blood group system.

Molecular genetic study of the histo-blood group ABO system has elucidated the allelic basis of this genetic locus. Comparison of the nucleotide sequence has identified in the coding region differences which change amino acid sequences of the glycosyltransferases coded by these genes. Effects of the differences (mutations) on the specificity and activity of the glycosyltransferases have been examined.

ABO Blood-Group System↗