SEARCH · Search PubMed

Results for “Inversion”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 433 records · Page 24Linked to original sources

PubMed2001

Discrimination of spatial relations and features in faces: Effects of inversion and viewing duration.

We studied discrimination of changes in eye position, mouth position, and eye colour at viewing durations ranging from 1 second to unlimited time. With upright faces, perception was rapid and did not improve above 2 seconds viewing time. Face inversion impaired discrimination of mouth position significantly, eye position slightly, but not eye colour. The 'inversion effect' for mouth position decreased with increasing stimulus duration, and disappeared when the subject knew that the only change in a trial was in mouth position. A subsequent experiment showed that the inversion impairment in the mouth region was not specific to spatial position but affected mouth colour to a lesser degree. When the mouth region was made more salient by increasing the frequency of mouth change trials, the inversion effect for mouth position decreased, and correlated with an increase in inversion effect for eye position but not eye colour. We conclude that the dominant effect of face inversion upon perception is decreased discrimination in less salient facial regions, that this impairment lessens with increasing viewing time, and that it affects both features and their spatial relations, though the effect on the latter is greater. These results are consistent with greater dependence on a serial component search strategy in inverted faces.

Journal Article↗

PubMed2002

Myocardial contrast echocardiography yields best accuracy using quantitative analysis of digital data from pulse inversion technique: comparison with second harmonic imaging and harmonic power Doppler during simultaneous dipyridamole stress SPECT studies.

AIMS: This prospective study assesses the (1) feasibility of quantifying ultrasound myocardial perfusion studies based on the densitometric analysis of digital data and the (2) comparison of pulse inversion, second harmonic and harmonic power Doppler modalities with SPECT. METHODS AND RESULTS: Twenty-three patients with suspected ischaemic heart disease had i.v. injections of Tc-Sestamibi and Optison during a dipyridamole stress test for echocardiography in pulse inversion, second harmonic and harmonic power Doppler mode. Analysis was (a) visual by scoring and (b) quantitative by densitometry of digital data for background subtracted myocardial opacification (a.u.) and normalized contrast effect (%). In the nine control patients, myocardial opacification at stress was greater (P< or =0.002) than in the pathologic group (5. +/- 3.3 vs 2.6 +/- 2.5 a.u. in pulse inversion, 5.4 +/- 2.1 vs 2.4 +/- 1.8 in second harmonic and 7.1 +/- 3.7 vs 4.9 +/- 3.7 a.u. in harmonic power Doppler). In the pathologic group, normalized contrast effect decreased significantly during stress (23.7 +/- 18.8 to 11.3 +/- 10.8%, P<0.003) only in pulse inversion. Kappa values for patient based diagnostic agreement with SPECT were 0.75 by pulse inversion, 0.62 by second harmonic and 0.52 by harmonic power Doppler for quantitative analysis, and 0.51, 0.37 and 0.35 respectively, for visual assessment. CONCLUSION: Myocardial contrast echocardiography should be analysed using densitometry of digital data. The new technique pulse inversion demonstrates best agreement with SPECT data.

Albumins↗

PubMed1992

[Assessment of the degree of severity of mitral regurgitation by the systolic inversion of the pulmonary venous flow. Transesophageal echocardiography study].

It is controversial the value of an echocardiographic mitral regurgitation evaluation based on planimetric patterns color codification area. We made this study using as alternative methods of quantification, the parameter of pulmonary venous flow, concretly maximum velocity and area of pulmonary systolic inversion venous flow. Considered the values of this related parameters to 3 crescent degrees on mitral regurgitation severity and obtained the following results: Lightness mitral insufficiency with maximum inversion area, 10 +/- 21 mm2 and maximum inversion velocity, 3.2 +/- 6 cm/seg. Moderate mitral insufficiency with maximum inversion area, 171 +/- 140 mm2 and maximum moderate velocity, 21 +/- 13 cm/seg. Several mitral insufficiency with maximum inversion area, 648 +/- 615 and maximum inversion velocity, 50 +/- 20 cm/seg. We conclude that systolic parameters of pulmonary venous flow evaluated by transesophagic echocardiography constitute considerable sensibility rules in the evaluation of severity degree in echocardiographic mitral regurgitation.

Adult↗

PubMed1993

Comparison of inversion restraint provided by ankle prophylactic devices before and after exercise.

The prudence of prophylactic ankle taping continues to be questioned as recent studies have identified other forms of ankle stabilization as more effective means of injury prevention. The purpose of our study was to compare the effectiveness of three ankle prophylaxes (adhesive taping, lace-up brace, and semirigid orthosis) with a control condition (no support) in limiting inversion under dynamic loads imposed by repetitive walking (4 mph) and running (9 mph) on an 8.5 degrees laterally tilted treadmill. Ten subjects participated in four separate testing sessions in which they were videotaped while walking and running on a tilted treadmill before and after 20 minutes of vigorous exercise. Average maximum inversion angle was determined through biomechanical analysis of rearfoot motion for each experimental condition and analyzed with repeated measures ANOVA and Scheffé post hoc tests. There were significant differences in the average maximum inversion angle between the ankle devices at 4 and 9 mph, and between pre-exercise and postexercise measurements at 4 mph, between the semirigid orthosis and the control condition at 4 and 9 mph, and between the lace-up brace and the control condition at 4 mph. Overall, the semirigid orthosis provided the most inversion restraint during dynamic loading, followed by the lace-up brace, tape, and control condition. We concluded that the lace-up brace and semirigid orthosis evaluated were very similar in restricting inversion, and that both devices limited postexercise inversion significantly more than ankle taping.

Journal Article↗

PubMed1990

Changes in stature following drop jumping and post-exercise gravity inversion.

Spinal shrinkage, measured by changes in stature, is used as an index of spinal loading as alterations reflect changes in intervertebral disc height. Shrinkage induced by various physical activities may be reversed using gravity inversion. The present purpose was to examine the shrinkage induced by a drop jumping regimen and evaluate gravity inversion post-exercise. Eight males, aged 20-31, performed two separate experimental protocols, each on different dates at 1400 h. Subjects stood for 30 min before undertaking an exercise regimen, consisting of five sets of five drop jumps from a height of 1 m, rebounding over a hurdle 0.5 m high. For 20 min, directly following the exercise regimen, subjects on one occasion stood and on a second occasion undertook gravity inversion. Shrinkage was monitored for 40 min after this post-exercise treatment. The stadiometer used to measure shrinkage was accurate to 0.05 mm. The exercise regimen caused a mean shrinkage of 1.68 and 1.81 mm for the two testing sessions. Post-exercise inversion and standing for 20 min increased stature by 5.18 and 0.76 mm, respectively (P less than 0.01). The 40-min standing period following inversion caused a rapid loss in stature (4.07 mm). At 30 min into this recovery period, there was no significant difference in shrinkage for either of the regimens. Results suggest that effects of an inversion treatment are short-lasting.

Adult↗

PubMed1994

Constitutively active 5-hydroxytryptamine2C receptors reveal novel inverse agonist activity of receptor ligands.

5-HT2C receptor antagonists, such as mianserin and mesulergine, exhibit negative intrinsic activity, defined as a decrease in agonist-independent, receptor-mediated, phosphoinositide hydrolysis in cells transfected with the 5-HT2C receptor cDNA. These drugs are classified as inverse agonists. Guanine nucleotides reciprocally modulate the binding of an agonist and inverse agonist, suggesting that an inverse agonist binds preferentially to the G protein-uncoupled form of the 5-HT2C receptor. Another 5-HT2C receptor antagonist, 2-bromolysergic acid diethylamide, functions as a neutral antagonist with no intrinsic activity, but is able to block both agonist and inverse agonist. Chronic treatment of choroid plexus cells with an inverse agonist, but not with the neutral antagonist, causes 5-HT2C receptor down-regulation, suggesting that the biological effects of 5-HT2C receptor antagonists are not solely due to antagonism of endogenous agonist. These results provide evidence that constitutively active 5-HT2C receptors are biologically significant. The functionally distinct properties of inverse agonists and neutral antagonists may elucidate the mechanisms controlling basal receptor activity states and lead to novel approaches in the development of therapeutic agents.

DOM 2,5-Dimethoxy-4-Methylamphetamine↗

PubMed1994

Reciprocal binding properties of 5-hydroxytryptamine type 2C receptor agonists and inverse agonists.

Expression of the 5-hydroxytryptamine type 2C (5-HT 2C) receptor in NIH/3T3 fibroblasts results in agonist-independent 5-HT2C receptor activation. Some 5-HT2c receptor antagonists decrease this activation and are termed inverse agonists. The present study uses this system to evaluate functional and receptor binding properties of other 5-HT2C receptor antagonists. A number of inverse agonists, including clozapine, and a neutral antagonist (methysergide) were identified in a functional assay. Guanine nucleotides increased the affinity of a radiolabeled inverse agonist ([3H]mesulergine), suggesting that inverse agonists bind the G protein-uncoupled form of the 5-HT2C receptor with high affinity. Competition binding was performed using conditions that separately labeled the G protein-coupled and -uncoupled forms of the receptor. These studies demonstrated that inverse agonists bound the uncoupled form of the 5-HT2C receptor with higher affinity, compared with the G protein-coupled form. Agonists, on the other hand, had higher affinity for the coupled form whereas neutral antagonists had equal affinity for both forms of the receptor. Thus, 5-HT2C receptor neutral antagonists exhibited functional and receptor binding properties consistent with those of classical receptor antagonists. However, 5-HT2C receptor inverse agonists displayed functional and receptor binding properties that were opposite those of agonists.

DOM 2,5-Dimethoxy-4-Methylamphetamine↗

PubMed1994

[Acute puerperal uterine inversion: a report of 3 cases and an analysis of 358 cases in the literature].

Acute puerperal uterine inversion is a rare but very feared obstetrical complication. It determines an almost immediate shock and serious metrorrhagia. It is a "glove-finger" introflexion of parietes uteri which takes place during the third stage of labor or during the first hours of puerperium. It can be distinguished in inversion of I, II or III degree according to the zone concerned by the introflexion: only the fundus of the uterus, all the corpus emerging in the vagina or the entirety of the uterus coming out from the vulvar orifice. The research carried out in the archives of the Department Obstetrics and Gynaecology of the University of Rome "La Sapienza" has showed, for the 20 years 1968-1988, 3 cases of uterine inversion out of a total of 69,677 childbirths. The uterine inversion was immediately diagnosed and in all the 3 cases a method of replacement by central taxis was practiced. In 2 cases, despite the packed tamponade, there was a recidivist or persistent uterine inversion of 1 degree, and in both cases a surgical reduction by laparatomy was practiced. In 1 of the 2 cases a hysterectomy was needed because of the persisting metratonia and metrorrhagia. The III case was treated with a manual replacement, a uterus massage from outside keeping the organ, with fist inside the cavity, in forced anteflexion in order to reach a good contractile activity. In 2 of the 3 cases the placental stage was operative, manual in 1 case and with fundal pressure applied abdominally in the other. We have found and analysed, in the international literature, 358 cases described from 1939 to 1989. The homogeneous data have been grouped in 21 tables for an easier visualization. Frequency varies from 1 out of 1,200 childbirths to 1 out of 57,393 childbirths. The medium value has been 1 out of 5,903 in the period from 1939 to 1989. The most significant data emerging from the analysis of the 358 cases of uterine inversion concern the placental stage. This was spontaneous in a number of cases equivalent to 28.9%; the number of fundal pressure applied abdominally was up to 30.9%; tractions over funicle up to 22.3%; manual delivery of the placenta up to 17.9%. Eighty-nine percent of cases were diagnosed by simple inspection, whilst for the resting ones an exploration was needed. For most of the cases the treatment was immediate (77%) especially by means of manual reduction vaginally (88%). Hysterectomy was needed for 14 cases that is up to 4.24%.(ABSTRACT TRUNCATED AT 400 WORDS)

Acute Disease↗

PubMed1993

Modulation of enantioselective metabolism and inversion of ibuprofen by xenobiotics in isolated rat hepatocytes.

R-ibuprofen undergoes chiral inversion by the formation of a coenzyme A (CoA) thioester and subsequent epimerization and hydrolysis. Using isolated rat hepatocytes, the interaction of xenobiotics with the inversion and oxidation pathways of ibuprofen enantiomers was determined from the time course of R- and S-ibuprofen and ibuprofenyl-CoA during 4-hr incubations with R- or S-ibuprofen (25 microM). By fitting a first-order model, the rate constants of the formation of ibuprofenyl-CoA (K12), oxidation of R-ibuprofen (K10), hydrolysis of ibuprofenyl-CoA (K21) and oxidation of S-ibuprofen (K30) were 1.306, 0.284, 6.858 and 0.496 hr-1, respectively. The fractional inversion of R-ibuprofen was 0.75 and the area under the curve for ibuprofenyl-CoA was 203.8 microM min. Coincubation with 50 microM of the cytochrome P450 inhibitors metyrapone and proadifen resulted in significant reductions of K10 and K30; the fractional inversion of R-ibuprofen increased to 116% and 127% and the area under the curve of ibuprofenyl-CoA to 145% and 144% of controls, respectively. Valproic acid and pivalic acid at 50 microM significantly reduced the K12 and increased the K21; the fractional inversion was unchanged but the area under the curve of ibuprofenyl-CoA was significantly reduced to 57% and 28% of controls, respectively. Valproic acid also significantly reduced K10 and K30. p-nitrobenzoic acid at 50 microM significantly increased K21 and reduced the area under the curve of ibuprofenyl-CoA to 44% of control but did not influence the fractional inversion. Selective inhibitors of ibuprofen oxidation were found to enhance significantly hepatocellular exposure to the potentially reactive ibuprofenyl-CoA intermediate.

Animals↗

PubMed1993

Fertility and reproduction following inversion of uterus.

Puerperal inversion of the uterus is itself a rare occurrence. Records of fertility and reproduction following an episode of uterine inversion are even rarer. The reproductive outcome following correction of uterine inversion in 6 cases seen over a span of 35 years is being reported here. One case of acute inversion was managed by manual replacement and the remaining 5 of chronic inversion were corrected by Haultain's operation. The only patient managed by manual replacement conceived thrice. She aborted once, but delivered 2 healthy live babies subsequently by caesarean section done for uterine inertia each time. Out of the 5 patients treated by Haultain's technique, 3 conceived later. One did not come for follow-up after the 5th month. Each of the other 2 had full-term normal delivery of living baby under supervision. None of the cases had any complications. It is concluded that even after operative correction of inversion, uncomplicated delivery may be anticipated. Conservative surgical management is ideal even in apparently neglected and chronic cases, as most of these women were primipara or multipara with only one or 2 living children and had a desire of future child bearing.

Adult↗

PubMed2024

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

BACKGROUND: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES). CASE PRESENTATION: Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS). These variants were subsequently confirmed via Sanger sequencing. The first case involved a pericentric inversion extending from DMD intron 47 to Xq27.3. The second case featured a paracentric inversion between DMD intron 42 and Xp21.1, inherited from the mother. In both cases, simple repeat sequences (SRS) were present at the breakpoints of these inversions. CONCLUSIONS: Our findings demonstrate that LRS is an effective tool for detecting atypical mutations. The identification of SRS at the breakpoints in DMD patients enhances our understanding of the mechanisms underlying structural variations, thereby facilitating the exploration of potential treatments.

Humans↗

PubMed1997

Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes.

We report a rare case of duplication for 7q22 --> 7qter and deletion for 7p22 --> 7pter, resulting from a meiotic recombination of a paternal pericentric inversion, inv(7)(p22q22). The newborn boy had the 7q trisomy syndrome. In addition, the diagnosis of chondrodysplasia punctata was made from lumbar and hand X-ray films taken soon after birth. Only two cases of rec(7)dup(7q), both in a single family, have been reported previously. We review 133 offspring with recombinations resulting from pericentric inversions on any chromosomes reported between 1981 and 1995. Of the 133 cases, 110 had a long-arm duplication and short-arm deletion, while only 23 had a short-arm duplication and long-arm deletion. In 85 of the 133 cases, the mother was an inversion carrier (five carriers had two affected offspring), and in 46, the carrier was a father (one carrier had three affected offspring). Kaiser [Hum Genet 1984;68:1-47] reviewed 63 offspring with recombinations derived from a parental pericentric inversion reported between 1972 and 1981. In both surveys, recombinations resulting from pericentric inversions of chromosomes 1, 12, 19, and Y were not found.

Chromosome Aberrations↗

PubMed1993

Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop.

Chromosomally unbalanced offspring resulting from the recombination of parental paracentric inversions are uncommon. We report on a 20-month-old boy with a partial duplication of 9p due to the recombination of a paternal paracentric inversion. The patient's recombinant chromosome was designated rec(9)(p13-->p24::p12-->p24::p12-->qter). The patient's father and paternal aunt have a paracentric inversion of chromosome 9:inv(9)(p13p24). Although several mechanisms have been proposed to explain the chromosome imbalance generated from paracentric inversions, none of the previously described mechanisms can account for the structure of the recombinant chromosome observed in the propositus. We propose an unusual mechanism of formation involving breakage and unequal reunion of sister chromatids within the inversion loop to explain the structure of the patient's recombinant chromosome.

Abnormalities, Multiple↗

PubMed2003

Speciation and inversions: chimps and humans.

A new set of models has resurrected a role for chromosomal inversions in the formation of new species. Traditional models, which are generally considered to be unlikely in most cases, had imagined that inversions might aid speciation by directly causing low hybrid fitness. In contrast, the newer models focus on the effect that inversions have on local recombination rates. A test of these models found a strikingly high rate of amino-acid substitution within regions where humans and chimpanzees differ by inversions, suggesting perhaps that our ancestral species underwent a divergence process in which gene flow and inversions played a key role. However, it remains uncertain whether this interesting finding is actually consistent with the proposed model.

Animals↗

PubMed2002

A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.

Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs including the gastrointestinal and urinary tracts and endometrium. The mutation spectrum at the MSH2 gene is extremely heterogeneous because it includes nonsense and missense point mutations, small insertions and deletions leading to frameshifts, and larger genomic deletions, the latter representing approximately 25% of the total mutation burden. Here, we report the identification and molecular characterization of the first paracentric inversion of the MSH2 locus known to cause HNPCC. Southern blot analysis and inverse PCR showed that the centromeric and telomeric breakpoints of the paracentric inversion map within intron 7 and to a contig 10 Mb 3' of MSH2, respectively. Pathogenicity of the paracentric inversion was demonstrated by conversion analysis. The patient's lymphocytes were employed to generate somatic cell hybrids to analyze the expression of the inverted MSH2 allele in an Msh2-deficient rodent cellular background. The inversion was shown to abolish MSH2 expression by both northern and western analysis. This study confirms that Southern blot analysis still represents a useful and informative tool to screen for and identify complex genomic rearrangements in HNPCC. Moreover, monoallelic expression analysis represents an attractive approach to demonstrate pathogenicity of unusual mutations in autosomal dominant hereditary conditions.

Adenosine Triphosphatases↗

PubMed1983

Sequence of the site-specific recombinase gene cin and of its substrates serving in the inversion of the C segment of bacteriophage P1.

Inversion of the 4.2-kb C segment flanked by 0.6-kb inverted repeats on the bacteriophage P1 genome is mediated by the P1-encoded site-specific cin recombinase. The cin gene lies adjacent to the C segment and the C inversion cross-over sites cixL and cixR are at the external ends of the inverted repeats. We have sequenced the DNA containing the cin gene and these cix sites. The cin structural gene consists of 561 nucleotides and terminates at the inverted repeat end where the cixL site is located. Only two nucleotides in the cixL region differ from those in the cixR and they are within the cin TAA stop codon. The cin promoter was localized by transposon mutagenesis within a 0.1-kb segment, which contains probable promoter sequences overlapping with a 'pseudo-cix' sequence cixPp. In a particular mutant, integration of an IS1-flanked transposon into the cin control region promoted weak expression of the cin gene. The cin and cix sequences show homology with corresponding, functionally related sequences for H inversion in Salmonella and with cross-over sites for G inversion in phage Mu. Based on a comparison of the DNA sequences and of the gene organizations, a possible evolutionary relationship between these three inversion systems and the possible significance of the cixPp sequence in the cin promoter are discussed.

Base Sequence↗

PubMed1992

Familial pericentric inversion (3)(p12q24).

A large kindred with a familial pericentric inversion of chromosome 3, (p12q24), was found after an investigation initiated by a young female with three spontaneous first-trimester abortions. Altogether 22 (33%) inversion carriers were discovered, 9 females and 13 males. 6 women and 9 men were included in the fertility and segregation analyses because they were all either sexually mature or past maturity. The abortion frequency was below the average European rate in both the inversion carrier group and the cytogenetically normal relative group; 6%:3%, respectively. The mean numbers of pregnancies and live births (1.8-3.1) did not vary significantly in the two comparison groups. The segregation analysis among the inversion carriers showed a good correspondence to the theoretical 1:1 ratio (16:13). Males and females contributed equally. No duplication/deletion syndromes have been found in the kindred; all family members are phenotypically normal. We report a balanced familial pericentric inversion with no adverse effects. This chromosome aberration could be an example of a harmless chromosome polymorphism.

Abortion, Spontaneous↗

PubMed1986

Familial pericentric inversion of chromosome 12.

A pericentric inversion in one of the chromosomes 12, found in two families living in the same region, is described. This inversion was detected during routine chromosomal analysis in two separate laboratories. The breakpoints were at 12p112 and 12q13. The inverted segment represented approximately 20% of the length of chromosome 12. Twenty nine descendants of carriers of the inversion were investigated, and the inversion was present in 23 of them. The other six descendants showed a normal karyotype. After correction for sample bias with the single selection scheme, a segregation ratio of 3:1 was estimated, indicating that the inverted chromosome 12 was preferentially transmitted. All the carriers of the inversion were phenotypically normal, without noticeable fertility disturbances.

Chromosome Banding↗