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PubMed1986

Eukaryotic DNA diverges at a long and complex pyrimidine.purine tract that can adopt altered conformations.

A domain exhibiting major sequence divergences among three cloned repeat units of a complex satellite DNA of the Bermuda land crab contains a repetitive polypyrimidine.polypurine segment consisting of a long C.G tract embedded between runs of CCT.AGG and CGCAC.GTGCG and their variations. The domain adopts at least two types of altered conformations that are markedly affected by pH and negative superhelical density; only one is sensitive to ionic strength. Supercoil-dependent distortions in helical structure are most pronounced at points of interruption in compositional bias in this domain and a similar although less extensive, divergent domain nearby. Since the domain is the site of major sequence divergences among individual satellite repeat units, the altered conformations may be involved in site-specific recombination between repeat units, either those arranged in tandem or those scattered throughout the genome.

Animals↗
PubMed2003

Transposon telomeres are widely distributed in the Drosophila genus: TART elements in the virilis group.

Telomeres of most animals, plants, and unicellular eukaryotes are made up of tandem arrays of repeated DNA sequences produced by the enzyme telomerase. Drosophila melanogaster has an unusual variation on this theme; telomeres consist of tandem arrays of sequences produced by successive transpositions of two non-LTR retrotransposons, HeT-A and TART. To explore the phylogenetic distribution of these variant telomeres, we have looked for TART homologues in a distantly related Drosophila species, virilis. We have found elements that, despite many differences in nucleotide sequence, retain significant amino acid similarity to TART from D. melanogaster. These D. virilis TART elements have features that characterize TART elements in D. melanogaster: (i) they are found in tandem arrays on chromosome ends, (ii) they are not found in euchromatin, and (iii) they produce both sense and antisense transcripts, with the antisense RNA being in excess. The D. virilis TART elements have one surprising feature: both of the ORFs contain long stretches of the trinucleotide repeat CAX, encoding polyglutamine (with a few interspersed histidines). These long polyglutamine stretches are conserved in the three D. virilis elements sequenced. They do not interrupt any domains of known function in the TART proteins and are not seen in TART proteins from other species. Comparison of the D. virilis and D. melanogaster telomeres suggests that the retrotransposon mechanism of telomere maintenance may have arisen before the separation of the genus Drosophila.

Amino Acid Sequence↗
PubMed2000

Catheter ablation of chronic atrial fibrillation targeting the reinitiating triggers.

INTRODUCTION: We assessed the mode of reinitiation of atrial fibrillation (AF) after cardioversion and the efficacy of ablating these foci of reinitiation in patients with chronic AF. METHODS AND RESULTS: Fifteen patients, 7 with structural heart disease, underwent mapping and catheter ablation of drug-resistant AF documented to be persistent for 5 +/- 4 months. In all patients, cardioversion was followed by documentation of P on T atrial ectopy and early recurrence, which allowed mapping of the reinitiating trigger or the source of ectopy. Radiofrequency (RF) ablation was performed at pulmonary vein (PV) ostia using a target temperature of 50 degrees C and a power limit of 30 to 40 W, with the endpoint being interruption of all local muscle conduction. A total of 32 arrhythmogenic PVs and 2 atrial foci (left septum and left appendage) were identified: 1, 2, and 3 or 4 PVs in 5, 3, and 6 patients. RF applications at the ostial perimeter resulted in progressively increasing delay, followed by abolition of PV potentials in 8, but potentials persisted in 6. A single ablation session was performed in 7 patients and 8 underwent two or three sessions because of recurrence of AF; ablation was directed at the same source due to recovery of local PV potential or at a different PV. No PV stenosis was noted either acutely or at repeated follow-up angiograms. Nine patients (60%) were in stable sinus rhythm without antiarrhythmic drugs at follow-up of 11 +/- 8 months. Anticoagulants were interrupted in 7 patients. CONCLUSION: PVs are the dominant triggers reinitiating chronic AF in this patient population. Elimination of PV potentials by ostial RF applications results in stable sinus rhythm in 60%. A larger group and longer follow-up are needed to investigate further the role of trigger ablation in curative therapy for chronic AF.

Adult↗
PubMed2003

Spasmodic dysphonia combined with insufficient glottic closure by phonation.

The authors describe the case history of a patient who suffered from symptoms deriving from two different origins. The patient's voice was spasmodic dysphonia-like interrupted and pressed. At the same time, his voice was powerless, too. The reason for this was that besides the spasmodic dysphonia caused by hyperkinesis, an incomplete closure of the vocal cords during phonation in the middle third was present. It was caused by the atrophy of the vocal cords. In order to eliminate the symptoms, initially we injected 25 IU Botox into the left vocal cord transcutaneously under the direction of EMG control. It resulted in a fluent, though breathy voice. In order to manage the closing insufficiency during phonation, we performed lipoaugmentation on the left vocal cord under high-frequency jet anaesthesia. The result of the two-step procedure was a fluent and clear voice. The speech without interruption lasted for 5 months, until the drug was eliminated. Of course, to prolong the result, the Botox injection should be repeated.

Abdomen↗
PubMed1999

Duplex ultrasound insertion of inferior vena cava filters in multitrauma patients.

BACKGROUND: Techniques for placement of inferior vena cava (IVC) filters have undergone continued evolution from open surgical exposure of the venous insertion site to percutaneous insertion in most cases today. However, the required transport either to an operating room or interventional suite can be complex and potentially hazardous for the multiply injured trauma patient who may require ventilator support, controlled intravenous infusions, or skeletal immobilization. Increased experience with color-flow duplex scanning for routine IVC imaging and portability of ultrasound equipment have suggested the usefulness of duplex-guided IVC filter insertion (DGFI) in critically ill trauma and intensive care unit (ICU) patients. METHODS: A total of 25 multitrauma/ICU patients were considered for DGIF. Screening color-flow duplex scans were performed on all patients, and obesity or bowel gas prevented ultrasound imaging in 2 cases, leaving 23 patients suitable for DGFI. In each case, the IVC was imaged in the transverse and longitudinal planes. The right renal artery was identified as it passed posterior to the IVC and was used as a landmark of the infrarenal segment of the IVC. All procedures were performed at the bedside in a monitored ICU setting using percutaneous placement of titanium Greenfield filters. Duplex scanning after insertion was used to document proper placement, and circumferential engagement of the filter struts in the IVC wall. An abdominal radiograph was also obtained in each case to confirm proper filter location. Duplex ultrasound imaging was repeated within 1 week of insertion to assess IVC and insertion site patency. RESULTS: DGFI was successful in all cases. The filter was deployed at a suprarenal level in one case, as was recognized at the time of postprocedural scanning. Three patients died as a result of their injuries but there were no pulmonary embolism deaths. Repeat duplex scanning was obtained in 17 patients, and revealed no case of IVC or insertion site thrombosis. CONCLUSIONS: Vena caval interruption can be safely performed under ultrasound guidance in a monitored, ICU environment. In selected multiply injured trauma patients, this will reduce the risk, complexity and cost of transport for these critically ill patients. DGFI also reduces procedural costs compared with an operating room or interventional suite, and eliminates intravenous contrast exposure. Preprocedural scanning is essential to identify patients suitable for DGFI, and careful attention must be paid to the known ultrasonographic anatomical landmarks.

Adult↗
PubMed2005

Zebrafish (Danio rerio) matrilins: shared and divergent characteristics with their mammalian counterparts.

We have cloned the cDNAs of the zebrafish (Danio rerio) members of the matrilin family of extracellular adaptor proteins. In contrast to mammals, no orthologue of matrilin-2 was found in zebrafish, either by RT (reverse-transcriptase) PCR using degenerated primers or by screening the databases (Ensembl and NCBI); however, two forms of matrilin-3, matrilin-3a and -3b, were present. The identity with the mammalian matrilins is from more than 70% for the VWA (von Willebrand factor A)-like domains to only 28% for the coiled-coil domains of matrilin-3a and -3b. In all zebrafish matrilins we found a greater variety of splice variants than in mammals, with splicing mainly affecting the number of EGF (epidermal growth factor)-like repeats. The exon-intron organization is nearly identical with that of mammals, and also the characteristic AT-AC intron interrupting the exons coding for the coiled-coil domain is conserved. In the matrilin-3b gene a unique exon codes for a proline- and serine/threonine-rich domain, possibly having mucin-like properties. The matrilin-1 and -3a genes were mapped to chromosome 19 and 20 respectively by the radiation hybrid method. The temporal and spatial expression of zebrafish matrilins is similar to that seen in the mouse. Zebrafish matrilin-4 is highly expressed as early as 24 hpf (h post fertilization), whereas the other matrilins show peak expression at 72 hpf. By immunostaining of whole mounts and sections, we found that matrilin-1 and -3a show predominantly skeletal staining, whereas matrilin-4 is more widespread, with the protein also being present in loose connective tissues and epithelia.

Alternative Splicing↗
PubMed1994

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

Epidermolysis bullosa (EB) represents a group of genodermatoses characterized by fragility and easy blistering of the skin. In the dystrophic forms of EB, blisters occur below the basement membrane of the skin, at the level of the anchoring fibrils. We have recently demonstrated tight genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic EB. We searched for mutations in dominant dystrophic EB by PCR amplification of genomic segments of COL7A1, followed by heteroduplex analysis. Examination of the PCR fragment corresponding to exon 73 of COL7A1 revealed a marked shift in the electrophoretic pattern in patients from a large Finnish dominant dystrophic EB family with genetic linkage to the COL7A1 locus (Z = 5.37, theta = 0). Sequence analysis revealed a G-->A transition at nucleotide 6118 in the triple helical domain of COL7A1, which converted a glycine residue to a serine (GGT-->AGT). This mutation occurs between interruptions 11 and 12 of the triple helix, in the seventh of a series of 24 uninterrupted Gly-Xaa-Yaa repeats. Pathogenetic glycine substitutions that disrupt the triple helix have been shown to exert a deleterious effect on the protein in several other disorders involving collagen genes. The clinical phenotype in this family probably arises due to a dominant negative mutation in type VII collagen, resulting in the formation of structurally abnormal anchoring fibrils.

Amino Acid Sequence↗
PubMed1993

Back pain and its correlates among workers in family care.

In order to assess the prevalence of back pain problems among family care workers, and the association of back pain with selected variables, a cross-sectional survey among the 4723 employees of the largest Flemish organization for family care was conducted. A self-administered questionnaire comparable to the standardized Nordic questionnaire on musculoskeletal symptoms was distributed to all employees of the organization. The response rate was 90 per cent (n = 4256) and the study population was almost uniformly composed of females (99.8 per cent). The period prevalence (12 months) amounted to 63 per cent (95 per cent CI: 61.7-64.6) and the point prevalence to 18 per cent (95 per cent CI: 16.5-18.8). Among the respondents suffering from back pain during the past year, 72 per cent suffered from repeated episodes of pain. In 82 per cent low back pain was involved. Twenty-nine per cent of the complaints interrupted their work during the past year, yielding a total number of 23,396 days of sick leave. The mean sick leave for back pain was 36 days and the median 15 days. The frequency of back pain was found to vary according to the regional departments to which the employees belonged, some sections experiencing up to 36 per cent higher period prevalences than the units with the lowest figures.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

Family conversation: description and interpretation.

This research focused on the analysis of a small segment (1 minute and 8 seconds) of conversation that occurred during a family therapy session. The participants were a mother, daughter, son, and the therapist. Through repeated listening and transcribing, a detailed transcript of the segment was first constructed. The conversational features within the transcript included the interruptions, pauses, overlaps, inflections, and turn shapes as structured by the participants. A sequential analysis of the conversation was rendered by describing the occurrence of the conversational features as well as interpreting the meanings of those features. The potential utility of conversation analysis to developing family theory and improving family therapy is also examined, as well as the limitations of the approach.

Adolescent↗
PubMed1991

[Treatment of strongyloidiasis with mebendazole--long-term eradication and new trials].

We previously reported the short period cure rate of mebendazole (MBZ) treatment to strongyloidiasis. We are now reporting the long period cure rate of the treatment. The results were as follows: 1) The cure rate was 73.9% (17/23) in single use of MBZ (100 mg twice daily for 28 days). 2) The cure rate was 100.0% (22/22) in combination therapy (thiabendazole 500 mg three times a day for 5 days and after that, MBZ 100 mg twice daily for 9 days). Before we obtained the cure rate of 6 months after the treatment described above, we concluded that MBZ could be used for the treatment of strongyloides infection because of the lack of severe side effects and suitable intervals between courses would prevent liver injury. Thus, in this study, 47 patients were treated with 100 mg of MBZ twice a day for 5 days and this treatment was repeated 1, 3 and 4 weeks later on the same schedules (group 1). But because of liver injury, 13 patients were interrupted and moved to the 4th course (group 2). The following results were obtained: 1) Out of a total of 60 patients, the cure rate was 88.1% (52/59) after 2 courses, 92.3% (12/13) after 3 courses and 100.0% (46/46) after the 4 courses were finished. 2) Diarrhea (10.6%), arthralgia and lumbago (8.5%) were observed in group 1. No side effects were observed in group 2. 3) The incidence of liver injury occurred 48.9% (23/47) in group 1 and 30.8% (4/13) in group 2. 4) Positive rate of HTLV-I antibody was 40.0% (24/60).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1996

Cell cycle arrest in the G2 phase induced by phorbol ester and diacylglycerol in vascular endothelial cells.

The role of protein kinase C (PKC) in vascular endothelial cell proliferation was investigated using human umbilical vein endothelial cells released from the G1/S border. Phorbol 12-myristate 13-acetate (PMA) caused G2 arrest because 1) when added to G2 cells, PMA inhibited subsequent cell division; 2) these growth-arrested cells did not show morphological features of mitotic cells; and 3) PMA did not interrupt mitosis in cells released from nocodazole-induced M phase arrest. 1-Oleoyl-2-acetyl-sn-glycerol (OAG) added repeatedly from G2 also inhibited mitosis. The activation of cdc2 kinase around the G2/M transition was suppressed by PMA and OAG. Although cdc2 was expressed in the presence of PMA, dephosphorylation of its tyrosine residue was inhibited by PMA. In parallel, the expression of cdc25B was suppressed by PMA. The total and the cdc2-associated amount of cyclin B were both reduced by PMA. These data suggested that the PKC pathway negatively regulates the G2/M transition and that the inhibition of cdc2 kinase by the reduction in the levels of cdc25B and cyclin B may contribute to this effect.

CDC2 Protein Kinase↗
PubMed1999

Characterization of mild whole-body hyperthermia protocols using human breast, ovarian, and colon tumors grown in severe combined immunodeficient mice.

OBJECTIVE: We have shown that one treatment of fever-like whole body hyperthermia (WBH) on mice bearing human breast tumors results in a tumor growth delay. Our goal was to repeat this study in mice bearing human ovarian or colon tumors. We further evaluated this WBH protocol by performing multiple and interrupted WBH treatments. METHODS: Human tumors were grown in severe combined immunodeficient (SCID) mice. For WBH, core body temperatures were maintained at 39.8+/-0.2 degrees C for 6-8 hours. Multiple treatments were given 6-7 days apart. Interrupted WBH consisted of three 2-hour heatings, 15 minutes apart. Tumor growth time (TGT) was the number of days to grow 1.5 or 2 times in volume. RESULTS: For WBH-treated ovarian tumors, TGT was 12+/-1.2d, compared with 5.0+/-0.1d for untreated mice (P < 0.05). For colon tumors with one WBH treatment TGT was 4.4+/-1.1d. Two and three treatments had TGTs of 9+/-2.3d and 8+/-1.6d. For the untreated tumors, TGT was 2+/-0.7d (P < 0.01 for one, two, and three treatments). Histological examination indicated that one and two treatments were associated with cellular damage within the tumors. With a slower growing colon tumor, the TGT was 24+/-3.3d with three WBH treatments, compared with 14+/-1.8d for controls (P < 0.01). The TGT of breast tumors treated with interrupted WBH was not significantly different than the noninterrupted, with TGT of 7.3+/-0.8d and 6.2+/-1.0d, respectively. CONCLUSIONS: These data illustrate that WBH causes a tumor growth delay in mice bearing human ovarian and colon tumors. This response is enhanced with a second treatment of WBH. Interrupted and noninterrupted WBH give comparable anti-tumor results. We will continue to evaluate WBH in various animal models to optimize its potential for clinical administration and maximize the anti-tumor response.

Animals↗
PubMed2005

Multiple exposures to swine barn air induce lung inflammation and airway hyper-responsiveness.

BACKGROUND: Swine farmers repeatedly exposed to the barn air suffer from respiratory diseases. However the mechanisms of lung dysfunction following repeated exposures to the barn air are still largely unknown. Therefore, we tested a hypothesis in a rat model that multiple interrupted exposures to the barn air will cause chronic lung inflammation and decline in lung function. METHODS: Rats were exposed either to swine barn (8 hours/day for either one or five or 20 days) or ambient air. After the exposure periods, airway hyper-responsiveness (AHR) to methacholine (Mch) was measured and rats were euthanized to collect bronchoalveolar lavage fluid (BALF), blood and lung tissues. Barn air was sampled to determine endotoxin levels and microbial load. RESULTS: The air in the barn used in this study had a very high concentration of endotoxin (15361.75 +/- 7712.16 EU/m3). Rats exposed to barn air for one and five days showed increase in AHR compared to the 20-day exposed and controls. Lungs from the exposed groups were inflamed as indicated by recruitment of neutrophils in all three exposed groups and eosinophils and an increase in numbers of airway epithelial goblet cells in 5- and 20-day exposure groups. Rats exposed to the barn air for one day or 20 days had more total leukocytes in the BALF and 20-day exposed rats had more airway epithelial goblet cells compared to the controls and those subjected to 1 and 5 exposures (P < 0.05). Bronchus-associated lymphoid tissue (BALT) in the lungs of rats exposed for 20 days contained germinal centers and mitotic cells suggesting activation. There were no differences in the airway smooth muscle cell volume or septal macrophage recruitment among the groups. CONCLUSION: We conclude that multiple exposures to endotoxin-containing swine barn air induce AHR, increase in mucus-containing airway epithelial cells and lung inflammation. The data also show that prolonged multiple exposures may also induce adaptation in AHR response in the exposed subjects.

Air Microbiology↗
PubMed2001

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing linkage and mutation studies in a large number of patients from those referred to the Italian Registry for Recurrent and Familial HUS/TTP. PCR and Western blot analyses were conducted to characterize the biochemical consequences of the mutations. Five mutations in the factor H gene were identified. Three, identified in two families and in a sporadic case, are heterozygous point mutations within the most C-terminal short consensus repeat 20 (SCR20) of factor H, resulting in single amino acid substitutions. The other two mutations introduce premature stop codons that interrupt the translation of factor H. A heterozygous nonsense mutation was identified in SCR8 in one family, and a homozygous 24-bp deletion within SCR20 was identified in a Bedouin family with a recessive mode of inheritance. Reverse transcription-PCR analysis of cDNA from peripheral blood leukocytes from the Bedouin family showed that the deletion lowered factor H mRNA levels. Although heterozygous mutations were associated with normal factor H levels and incomplete penetrance of the disease, the homozygous mutation in the Bedouin family resulted in severe reduction of factor H levels accompanied by very early disease onset. These data provide compelling molecular evidence that genetically determined deficiencies in factor H are involved in both autosomal-dominant and autosomal-recessive hemolytic uremic syndrome and identify SCR20 as a hot spot for mutations in the disease. The mutations identified here give an important hint to the relevance of the C-terminus of factor H in the control of the alternative complement activation pathway.

Amino Acid Sequence↗
PubMed1999

Is a common grouping mechanism involved in the phenomena of illusory continuity and stream segregation?

Two auditory phenomena--stream segregation and illusory continuity through a wide-band noise interruption--were studied to determine whether the same principles of perceptual organization applied to both. A cycle was formed of a repeating alternation of two short bursts of narrow-band noise (NBN), one centered at a high frequency (H) and the other at a low frequency (L), with shorter bursts of wide-band noise (WBN) inserted between successive NBNs (H WBN L WBN H WBN...). In some conditions, listeners could hear a single NBN moving up and down behind the WBN bursts, although there was no NBN present with the WBN. Listeners rated the strength of this illusory continuity. Center frequency separation, rate of onsets, and bandwidth of the NBNs were varied. Increases in values of all three variables decreased illusory continuity. Other listeners rated the stream segregation of the H and L bands when successive NBNs were separated either by WBN bursts (as above) or by silences. The same three acoustic variables were manipulated. Increases in all three variables decreased the perception of a single stream. The similar disruptive effects on illusory continuity and on the one-stream percept in the stream segregation task support the idea that both phenomena depend on a common preliminary process of linking together the parts of a sequence that have similar frequencies.

Adolescent↗
PubMed1999

[Structure and evolution of human sub-telomeric regions].

Recent progress in the field of human genome analysis has led to the development of new concepts in the definition of subtelomeric domains. Analysis of DNA sequences from human and yeast chromosome ends have shown that short stretches of degenerate TTAGGG are found at a distance from the telomeric repeats. These stretches define a boundary between two structurally different regions. The distal domain is characterised by numerous, short segments of interrupted homology to many other human telomeric regions and to a number of ESTs. The proximal domain shows much longer uninterrupted homology to a few chromosome ends. This domain evolved quickly within primates at least, as demonstrated by the detailed study of locus DNF92 which spread very recently in humans from 17 qter to at least ten other chromosome ends. At the different sites, presence-absence polymorphisms are observed within humans. The region remained single locus at the paralogous site in higher primates. Conversely, a human and orangutan single locus telomeric domain occupies multiple chromosome ends in chimpanzee. Balanced translocation is the likely mechanism through which the spreading occurred. Some members of the olfactory receptor gene family show a similar behaviour: multiple telomeric locations, and presence-absence polymorphism. Strikingly, the set of chromosome ends occupied by the two regions is identical, except for the two ancestral sites. Moreover, the relative frequency of detection of the region at the different sites indicates some kind of competition between the two regions. Consequently, these two regions represent major new tools to investigate recent human genome evolution and human genome diversity in different populations.

Animals↗
PubMed1990

[Antibiotic prophylaxis with sulbactam/ampicillin in colon surgery].

We evaluated the effectiveness of sulbactam/ampicillin (S/A) as a perioperative prophylaxis regimen in elective colic surgery (procedures lasting less than 4 hours). We studied 18 patients (11 males, 7 females; mean age 46 yrs, range 21-72), by an open, non-comparative trial: S/A was given soon before anesthesia (1 g + 2 g) and the same dose was repeated every 6 hours, up to 5 doses. The drug was well tolerated, and there were no side effects requiring the interruption of the prophylaxis. Infection rate was low (only one case of evident suppuration of the wound).

Adult↗
PubMed1985

[Flattening of hypertrophic scars by punctiform argon ion laser coagulation in several sessions].

11 hypertrophic scars were treated by different argon ion laser techniques. The observation period is 0.5-3 years. Punctiform coagulation zones of 2-3 mm diameter, interspersed by untreated areas of scar tissue of 2 mm length, which are by lasered 6 weeks later in a second laser session, has proved most successful. Laser sessions are repeated in this manner until sufficient flattening of the hypertrophic scar is achieved. A low power density and very brief multiple interrupted radiation periods for controlling the thermal effect are useful. It is assumed that small superficial coagulation necroses produced by the argon ion laser will result in subsequent scar tissue being formed in other directions while decreasing the collagen formation, eventually resulting in flattening of the hypertrophic scar.

Adult↗