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PubMedDate not supplied

Childhood celiac disease: a long-term analysis of relapses in 91 patients.

The diagnosis of celiac disease (CD) was uniformly established between 1960 and 1983 in 314 infants and children according to the following criteria: a flat proximal small bowel mucosa in untreated patients and an unequivocal response and remission on a gluten-free diet (GFD). In 91 patients, one or more interruptions of the GFD (challenges) were documented by repeated intestinal biopsies. Sixty-eight percent of the challenges were initiated by the patients themselves. Seventy-one patients (Group A, 81.4%) had a flat mucosa after 0.25-14.67 years off diet. In 11 (Group B, 12%), a successive deterioration of the mucosa occurred during 0.5-6.67 years after interruption of GFD without becoming flat. Six patients (Group C, 6.6%) had a normal intestinal mucosa after 2.24-6.92 years off diet. Three patients are still under study, being off diet for less than 2 years. Median age at diagnosis was similar in all three groups (1.16, 1.16, and 1.12 years). Median duration of GFD prior to challenge was 4.54 years in Group A, 12.16 years in Group B (p less than 0.001), and 6.38 years in Group C. A mucosal relapse within 2 years after the beginning of challenge was observed in 21 of 24 patients (87.5%) studied longitudinally during planned challenges. It is concluded that only a minority (6.6%) of CD patients, when diagnosed as above, will not relapse after an interruption of GFD and that another small group (12%) will deteriorate very slowly. Routine gluten challenges in all CD patients, interrupting established life and dietary habits and including repeated biopsies in the majority of patients who deteriorate and relapse, seem therefore not justifiable.

Adolescent↗
PubMed2006

Conformational effects of Gly-X-Gly interruptions in the collagen triple helix.

The collagen model peptide with sequence (Pro-Hyp-Gly)4-Pro-Gly-(Pro-Hyp-Gly)5 contains a central Gly-Pro-Gly interruption in the consensus collagen sequence. Its high-resolution crystal structure defines the molecular consequences of such an interruption for the collagen triple-helical conformation, and provides insight into possible structural and biological roles of similar interruptions in the -Gly-X-Y- repeating pattern found in non-fibrillar collagens. The peptide (denoted as the Hyp minus peptide or Hyp-) forms a rod-like triple helix structure without any bend or kink, and crystallizes in a quasi-hexagonal lattice. The two Pro-Hyp-Gly zones adopt the typical triple-helical collagen conformation with standard Rich and Crick II hydrogen bonding topology. Notably, the central zone containing the Gly-Pro-Gly interruption deviates from the standard structure in terms of hydrogen bonding topology, torsion angles, helical, and superhelical parameters. These deviations are highly localized, such that the standard features are regained within one to two residues on either side. Conformational variations and high temperature factors seen for the six chains of the asymmetric unit in the zone around the interruption point to the presence of a local region of considerable plasticity and flexibility embedded within two highly rigid and ordered standard triple-helical segments. The structure suggests a role for Gly-X-Gly interruptions as defining regions of flexibility and molecular recognition in the otherwise relatively uniform repeating collagen conformation.

Amino Acid Sequence↗
PubMedDate not supplied

Reversible harmless interruption of testicular blood supply in the ram.

An effective method of interrupting testicular blood flow temporarily and repeatedly in the ram has been developed. Blockade of flow has been achieved mechanically by an inflatable occluder placed around the testicular artery at the level of the spermatic cord. The effect of the blockade on total testicular blood supply was investigated using Doppler flowmetry and a percutaneous Xenon-133 injection method. With both approaches, the blood flow changes after inflation or deflation of the occluders could be estimated satisfactorily. A substantial decrease of testicular blood flow was achieved in eight of the 10 testes with inflated occluders. However, there were indications that in the remaining two testes blockade of the arterial flow was not complete. After deflation of the occluders, blood flow was restored rapidly and completely in all testes. Macro- and microscopic examinations revealed no long-term damage to the testis after blood flow interruptions lasting 30 or 60 minutes.

Animals↗
PubMed2004

The impact of microsatellite electromorph size homoplasy on multilocus population structure estimates in a tropical tree (Corythophora alta) and an anadromous fish (Morone saxatilis).

Microsatellite allelic states are determined by electrophoretic sizing of polymerase chain reaction fragments to define electromorphs. Numerous studies have documented that identical microsatellite electromorphs are potentially heterogeneous at the DNA sequence level, a phenomenon called electromorph size homoplasy. Few studies have examined the impact of electromorph size homoplasy on estimates of population genetic parameters. We investigated the frequency of microsatellite electromorph size homoplasy for 12 loci in the tropical tree Corythophora alta and 11 loci in the anadromous fish Morone saxatilis by sequencing 14-23 homozygotes per locus sampled from multiple populations for a total of 453 sequences. Sequencing revealed no homoplasy for M. saxatilis loci. Seven C. alta loci exhibited homoplasy, including single and compound repeat motifs both with and without interruptions. Between 12.5 and 42.9% of electromorphs sampled per locus showed size homoplasy. Two methods of correction for homoplasy in C. alta generally produced little or no change in single-locus estimates of RST, except for two loci in which some additional differentiation among populations was revealed. Twelve-locus estimates of RST (including the seven loci corrected for homoplasy) were slightly greater than estimates from uncorrected data, although the 95% confidence intervals overlapped. The frequency of methodological errors such as clerical mistakes or sample mislabelling per genotype scored was estimated at 5.4 and 7.3% for C. alta and M. saxatilis, respectively. Simulations showed that the increase in RST produced by homoplasy correction was only slightly larger than variation in RST estimates expected to be caused by methodological errors.

Alleles↗
PubMed1989

Human immunodeficiency virus type 1 LTR TATA and TAR region sequences required for transcriptional regulation.

The human immunodeficiency virus (HIV) type 1 LTR is regulated at the transcriptional level by both cellular and viral proteins. Using HeLa cell extracts, multiple regions of the HIV LTR were found to serve as binding sites for cellular proteins. An untranslated region binding protein UBP-1 has been purified and fractions containing this protein bind to both the TAR and TATA regions. To investigate the role of cellular proteins binding to both the TATA and TAR regions and their potential interaction with other HIV DNA binding proteins, oligonucleotide-directed mutagenesis of both these regions was performed followed by DNase I footprinting and transient expression assays. In the TATA region, two direct repeats TC/AAGC/AT/AGCTGC surround the TATA sequence. Mutagenesis of both of these direct repeats or of the TATA sequence interrupted binding over the TATA region on the coding strand, but only a mutation of the TATA sequence affected in vivo assays for tat-activation. In addition to TAR serving as the site of binding of cellular proteins, RNA transcribed from TAR is capable of forming a stable stem-loop structure. To determine the relative importance of DNA binding proteins as compared to secondary structure, oligonucleotide-directed mutations in the TAR region were studied. Local mutations that disrupted either the stem or loop structure were defective in gene expression. However, compensatory mutations which restored base pairing in the stem resulted in complete tat-activation. This indicated a significant role for the stem-loop structure in HIV gene expression. To determine the role of TAR binding proteins, mutations were constructed which extensively changed the primary structure of the TAR region, yet left stem base pairing, stem energy and the loop sequence intact. These mutations resulted in decreased protein binding to TAR DNA and defects in tat-activation, and revealed factor binding specifically to the loop DNA sequence. Further mutagenesis which inverted this stem and loop mutation relative to the HIV LTR mRNA start site resulted in even larger decreases in tat-activation. This suggests that multiple determinants, including protein binding, the loop sequence, and RNA or DNA secondary structure, are important in tat-activation and suggests that tat may interact with cellular proteins binding to DNA to increase HIV gene expression.

Base Sequence↗
PubMed1995

Trypanosoma cruzi: interruption of both alleles of a gene encoding a protein containing 14-amino-acid repeats by targeted insertion of NEOr and HYGr.

In Trypanosoma cruzi approximately 90% of the 121- and 176-kDa cytoskeletal proteins encoded by the two alleles of the TCR27 gene is composed of 14-amino-acid repeats. To gain insight into the function of the TCR27 proteins we replaced the corresponding regions of 42-nucleotide repeats in the two alleles with the NEOr and HYGr genes. Analyses of DNAs and RNAs from four clones resistant to both G418, a neomycin analogue, and hygromycin showed that in both cases the repetitive regions had in fact been deleted. In addition, the absence of expression of the 14-amino-acid repeats was confirmed in Western blots. In axenic cultures growth rates of the morphologically unchanged, doubly resistant organisms were not different from those of wild-type parasites. However, the doubly resistant organisms proliferated more slowly in cultured mammalian cells than did wild-type parasites. These findings indicate that the absence of the TCR27 repetitive regions is detrimental, but not fatal, to the parasites.

Alleles↗
PubMed1997

Generation of Light-Induced Electrical Potential from Ion Exchange Membranes Containing 4,4'-Bipyridine Moiety

The effect of various swelling solvents for anion exchange membranes having a viologen moiety as the anion exchange groups on photovoltage was examined to obtain a high photovoltage and to clarify the mechanism of charge transfer. Anion exchange membranes having a viologen moiety, based on a copolymer membrane of chloromethylstyrene and divinylbenzene and a film of chloromethylated polysulfone, were swelled with various solvents, and clamped between two ITO electrodes (indium-tin oxide electrodes), and a xenon lamp irradiated the membrane from one side. In general, the solvents that swelled the membranes well and provided a high photovoltage included ethylene glycols, 1,3-dioxolane, 1,3-dioxane, and 1-methyl-2-pyrrolidone. Especially, the membrane swelled with 1,3-dioxolane generated a high photovoltage. It is thought from these results that methylene groups neighboring oxygen and between two oxygens, which is an electron acceptor, are related to the charge transfer in the system. When the cell was assembled by sandwiching a cation exchange membrane (as a separator) between two anion exchange membranes with a viologen moiety, the photovoltage significantly decreased with an increase in repeat time of the irradiation and interruption. On the other hand, the voltage of the cell having of an anion exchange membrane separator did not significantly decrease with the same procedure. When non-ion-exchanged chloride ions were added to the cell, the generation of the photovoltage became high compared to the cell without the ions. It was concluded from these results that chloride ions also play an important role in the charge transfer in the cell.

Journal Article↗
PubMed1978

Characteristic motor activity of the gastrointestinal tract in fasted conscious dogs measured by implanted force transducers.

Gastrointestinal contractile actiivity from the gastric body to the terminal ileum in conscious dogs was continuously recorded for several weeks by means of chronically implanted strain-gage force transducers. It was found that the 24-hr changes in the gastrointestinal contractile activity consisted of the two different major patterns, the digestive and interdigestive patterns. In the interdigestive state, a cyclic, recurring, caudad-moving band of strong contractions starting in the stomach and the duodenum and traversing the entire length of the small intestine was observed. When one band of strong contractions reached the distal ileum, another developed in the stomach and the duodenum again and propagated in a caudad direction. Such recycling episodes interrupted by long-lasting quiescence repeatedly occurred until the next meal. These characteristic contractile activities observed in our dogs are identical with the interdigestive myoelectric complex of the stomach and the small bowel recently reported by Code and Marlett (5). Four sequential phases (I-IV) of the migrating myoelectric complex, defined in terms of action potential activity, seem to correspond to the resting (quiescence), preceding irregular contractions, strong contractions, and subsiding contractions observed in the present study, respectively. Function and control mechanism of the interdigestive contractile activity were discussed.

Action Potentials↗
PubMed1990

Evolution of collagen IV genes from a 54-base pair exon: a role for introns in gene evolution.

The exon structure of the collagen IV gene provides a striking example for collagen evolution and the role of introns in gene evolution. Collagen IV, a major component of basement membranes, differs from the fibrillar collagens in that it contains numerous interruptions in the triple helical Gly-X-Y repeat domain. We have characterized all 47 exons in the mouse alpha 2(IV) collagen gene and find two 36-, two 45-, and one 54-bp exons as well as one 99- and three 108-bp exons encoding the Gly-X-Y repeat sequence. All these exons sizes are also found in the fibrillar collagen genes. Strikingly, of the 24 interruption sequences present in the alpha 2-chain of mouse collagen IV, 11 are encoded at the exon/intron borders of the gene, part of one interruption sequence is encoded by an exon of its own, and the remaining interruptions are encoded within the body of exons. In such "fusion exons" the Gly-X-Y encoding domain is also derived from 36-, 45-, or 54-bp sequence elements. These data support the idea that collagen IV genes evolved from a primordial 54-bp coding unit. We furthermore interpret these data to suggest that the interruption sequences in collagen IV may have evolved from introns, presumably by inactivation of splice site signals, following which intronic sequences could have been recruited into exons. We speculated that this mechanism could provide a role for introns in gene evolution in general.

Amino Acid Sequence↗
PubMed1997

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions.

A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (NF1) and in her affected daughter. Sequence analysis of cloned junction fragments traversing the breakpoints allowed the identification of the structures involved in the rearrangement. Aberrant bands in Southern hybridizations of restriction enzyme-digested DNA of the patient pointed to the disruption of the NF1 gene in intron 31. Semispecific polymerase chain reaction analysis of the genomic DNA of the patient with the specific primer anchored at NF1 exon 31 was used to obtain the breakpoint-spanning fragment of the derivative chromosome 17. The intron 31 sequence turned out to be interrupted within a large irregular (AT) repeat. The chromosome 22-derived sequence of the der(17) junction fragment allowed us to identify cosmids of the corresponding region from a chromosome 22 specific cosmid library. With the support of the breakpoint-spanning cosmids, the chromosome 22 region upstream of the fragment carried by the der(17) was characterized. Primers deduced from the sequence of this upstream region were used in combination with a primer in NF1 intron 31 distal to the breakpoint on chromosome 17 to amplify the der(22) junction fragment. The structure of the junction sequences suggested that the translocation had arisen by unequal homologous recombination between (AT)-rich repeats on chromosome 22 and on chromosome 17 in intron 31 of the NF1 gene. However, our data support the assumption of additional rearrangements prior to, or in the course of, the recombination event, leading to a loss of the sequences between the involved (AT) repeats on chromosome 22. In the direct vicinity of these (AT) repeats, two members of a previously undescribed low-copy repetitive sequence have been found, copies of which are also present on human chromosome 13.

Adult↗
PubMed1996

Persistent placenta increta: a complication of conservative management of presumed placenta accreta.

BACKGROUND: Recent reports have advocated conservative management rather than hysterectomy for placenta increta and its related conditions, placenta accreta and percreta. We report an unusual case of placenta increta in which initial conservative therapy for a presumed placenta accreta failed and hysterectomy was performed 6 months postpartum. CASE: A 32-year-old woman, gravida 2, para 2, was referred 5 months after a repeat cesarean delivery and bilateral tubal interruption for evaluation of an intrauterine mass. A presumed placenta accreta noted at delivery had been managed conservatively. Hysterectomy was performed, and pathologic evaluation was consistent with a retained placenta increta. CONCLUSION: Persistent placental tissue is a potential complication of conservative management of an abnormally adherent placenta.

Adult↗
PubMed2003

Effect of mineral supplements to citric acid on enamel erosion.

The aim of this study was to evaluate the effect of mineral supplements to citric acid (1%; pH 2.21) on enamel erosion under controlled conditions in an artificial mouth. From each of 156 bovine incisors one polished enamel sample was prepared. The samples were divided among 13 experimental groups (n=12). In group 1 citric acid only was used (control). In groups 2-10 either calcium, phosphate or fluoride in various low concentrations was admixed to the citric acid. In groups 11-13 the citric acid was supplemented with a mixture of calcium, phosphate and fluoride. For demineralisation the specimens were rinsed with the respective solution for 1 min, immediately followed by a remineralisation period with artificial saliva (1 min). The specimens were cycled through this alternating procedure five times followed by rinsing for 8 h with artificial saliva. The de- and remineralisation cycle was repeated three times for each specimen interrupted by the 8 h-remineralisation periods. Before and after the experiments, the specimens were examined using microhardness testing (Knoop hardness) and laser profilometry. Hardness loss and enamel dissolution was significantly higher for the controls as compared to the remaining groups. Significantly lowest hardness loss for all groups was recorded for group 12 with admixture of calcium, phosphate and fluoride to citric acid. The significantly highest enamel loss was recorded for the controls compared to all other samples. Groups 3 and 4 revealed significantly lower and higher tissue loss compared to the remaining groups (2-13), respectively. The other groups did not differ significantly from each other. Modification of citric acid with calcium, phosphate and fluoride exerts a significant protective potential with respect to dental erosion. However, with the low concentrations applied enamel dissolution could not be completely prevented.

Animals↗
PubMed1999

Neonatal stress alters habituation of exploratory behavior in adult male but not female rats.

The effect of monosodium-L-glutamate (MSG) administration in the neonatal period on habituation of exploratory behavior related to gender differences was investigated. Rats of both sexes were intraperitoneally treated with MSG (4 mg/g) or hypertonic saline (10% NaCl) on postnatal days 2, 4, 6, 8, and 10. On postnatal day 65, the animals were tested in an open-field test during 4 consecutive days, once daily in 6-min sessions. The rapidity of habituation of exploratory behavior during repeated exposure to the open field (interrupted habituation) and over individual sessions (uninterrupted habituation) was evaluated by using the method of linear regression. Compared to intact controls, there were no significant differences found in interrupted habituation, neither in males nor in females. Uninterrupted habituation in neonatally treated males was slowed down in the first 2 days of testing. No differences in adult behavior between treated groups (MSG and hypertonic saline) were observed, i.e., there were no late effects specific for neonatal MSG administration. In females, uninterrupted habituation was not affected. Males proved to be more sensitive to neonatal stress associated with injections of MSG or hypertonic saline than females, and showed feminine-like habituation in the new environment.

Animals↗
PubMed2000

DNA sequence and functional characterization of the human and rat epidermal growth factor promoter: regulation by cell growth.

Epidermal growth factor (EGF) regulates cell growth and differentiation through intracellular transduction networks activated by its tyrosine kinase receptor, EGFR. In this report we describe the structure and DNA sequence of transcriptional control regions from both human and Wistar-rat single copy EGF genes and their functional analysis in epithelial cell cultures. By sequence comparison we show these proximal gene regions have remained conserved in evolution to -640 (relative to the rodent mRNA initiation site), where similarity is interrupted by a rodent interspersed-repeat element (SINE). Transcript mapping reveals complexity in EGF initiation site selection: whereas a single rat liver initiation site (+1) appears 30bp 3' to the TTTAA element, an additional upstream site is detected in kidney RNA at -14. In contrast, in human RNA a single initiation is observed, which is displaced 12bp 3' to the rodent RNA terminus. Both promoters were defined in transient expression assays. Our results show the human promoter to be at least 20-fold more active than the equivalent rodent sequence, although both are activated during cell proliferation and negatively regulated in contact inhibited and quiescent cultures. The results indicate EGF gene expression and cell division are temporally linked, suggesting its promoter comprises a growth responsive regulatory domain.

3T3 Cells↗
PubMed2005

Telomere fusion to chromosome breaks reduces oncogenic translocations and tumour formation.

Telomeres protect chromosome ends from fusion, degradation and recombination. Loss of telomere function has opposite effects on tumorigenesis: apoptosis, which inhibits tumour growth, and genomic instability, which accelerates tumour formation. Here we describe a new mechanism by which short telomeres inhibit tumorigenesis through interference with oncogenic translocations. In mice that are null for both ataxia-telangiectasia-mutated (Atm) and telomerase RNA (mTR), the first generation (G1) Atm-/- mTR-/- mice have a lower rate of tumour formation than Atm-/- mTR+/+ mice. These Atm-/- mTR-/- G1 tumours show no increase in either apoptosis or overall genomic instability. Strikingly, the tumours show a high fraction of translocations containing telomere signals at the translocation junctions. Translocations of the T-cell receptors on chromosome 14, which initiate tumorigenesis, were interrupted by fusion with telomeres. Telomere repeats were also detected at the translocation junctions in pre-malignant thymocytes. We propose that telomere fusion to DNA double-strand breaks competes with the generation of oncogenic translocations and thus reduces tumour formation.

Age Factors↗
PubMed2004

Electromyographic signs of neuromuscular fatigue are concomitant with further increase in ventilation during static handgrip.

We questioned if a non-linear increase in ventilation defining a ventilatory threshold (V(Th)) accompanied the electromyographic (EMG) signs of neuromuscular fatigue. Indeed, the intramuscular accumulation of metabolites may activate the afferent nervous pathways responsible for both the 'muscle wisdom' phenomenon and the respiratory centre activation. During inframaximal (50%) handgrip sustained until exhaustion, minute ventilation (V(E)), V(E)/V(O2) and V(E)/V(CO2) ratios were measured simultaneously with surface EMG of the 'flexor digitorum' muscle. V(Th) was defined as a non-linear V(E) increase and/or an abrupt V(E)/V(O2) increase without any concomitant increase in the V(E)/V(CO2) ratio. Handgrip was repeated during complete arterial blood flow interruption in order to suppress any venous return from the exercising forearm. In both control and blood flow interruption conditions, an abrupt increase in the V(E)/V(O2) ratio was measured in the majority of trials (13 of 15 and 14 of 15, respectively) and the EMG signs of neuromuscular fatigue (a decline in median frequency and/or a non-linear increase in low-frequency EMG energies, E(L)) were concomitant with the V(Th) determination. Thus, V(Th) occurs during sustained static contraction and is concomitant with EMG signs of neuromuscular fatigue. Neurogenic factors seem to be responsible for the two responses which persist despite the absence of any release of metabolites in the circulation.

Adult↗
PubMed1995

Mouse alpha 1- and beta 2-syntrophin gene structure, chromosome localization, and homology with a discs large domain.

The syntrophin family of dystrophin-associated proteins consists of three isoforms, alpha 1, beta 1, and beta 2, each encoded by a distinct gene. We have cloned and characterized the mouse alpha 1- and beta 2-syntrophin genes. The mouse alpha 1-syntrophin gene ( > 24 kilobases) is comprised of eight exons. The mouse beta 2-syntrophin gene ( > 33 kilobases) contains seven exons, all of which have homologues at the corresponding position in the alpha 1-syntrophin gene. Primer extension analysis reveals two transcription initiation sites in the alpha 1-syntrophin gene and a single site in the beta 2-syntrophin gene. The sequence immediately 5' of the transcription start sites of both genes lacks a TATA box but is GC-rich and has multiple putative SP1 binding sites. The alpha 1-syntrophin gene is located on human chromosome 20 and mouse chromosome 2, while the beta 2-syntrophin gene is on human chromosome 16 and mouse chromosome 8. Analysis of the amino acid sequence of the syntrophins reveals the presence of four conserved domains. The carboxyl-terminal 56 amino acids are highly conserved and constitute a syntrophin unique domain. Two pleckstrin homology domains are located at the amino-terminal end of the protein. The first pleckstrin homology domain is interrupted by a domain homologous to repeated sequences originally found in the Drosophila discs-large protein.

Amino Acid Sequence↗
PubMed1998

Structure of the human macrophage MARCO receptor and characterization of its bacteria-binding region.

The primary structure of human macrophage receptor with collagenous structure (MARCO) was determined from cDNA clones and shown to be highly similar to that of mouse (Elomaa, O., Kangas, M., Sahlberg, C. , Tuukkanen, J., Sormunen, R., Liakka, A., Thesleff, I., Kraal, G., and Tryggvason, K. (1995) Cell 80, 603-609). Features such as potential carbohydrate attachment sites in the extracellular spacer domain III and the interruption of Gly-Xaa-Yaa repeats in the collagenous domain IV were conserved between the two species. However, the human MARCO polypeptide chain lacked the intracellular cysteine present in mouse, as well as two extracellular cysteines that form interchain disulfide bonds in the murine protein. In situ hybridization showed MARCO to be strongly expressed in macrophages of several tissues of human individuals with sepsis. No expression was observed in other cell types. The bacteria-binding region of MARCO was determined in binding studies with full-length and truncated variants of MARCO, and localized to a region proximal to the cysteine-rich part of the COOH-terminal domain V. The intrachain disulfide bond pattern of domain V was established showing that these bonds are between cysteine pairs C1-C5, C2-C6, and C3-C4.

Amino Acid Sequence↗