bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of management and outcomes of ST-segment elevation myocardial infarction patients in Estonia, Hungary, Norway, and Sweden according to national ongoing registries
Authors: Blöndal Mai , Ainla Tiia , Eha Jaan , Lõiveke Piret , Marandi Toomas , Saar Aet , Veldre Gudrun , Edfors Robert , Lewinter Christian , Jernberg Tomas , Jortveit Jarle , Halvorsen Sigrun , Becker Dávid , Csanádi Zoltán , Ferenci Tamas , Andréka Péter , Jánosi András 
Published: January 2021

Abstract

Aims
Describe the characteristics, management and outcomes of hospitalized ST-segment elevation myocardial infarction (STEMI) patients according to national ongoing myocardial infarction registries in Estonia, Hungary, Norway, and Sweden.

Methods and results
Country-level aggregated data was used to study baseline characteristics, use of in-hospital procedures, medications at discharge, in-hospital complications, 30-day and 1-year mortality for all patients admitted with STEMI during 2014–2017 using data from EMIR (Estonia; n = 4584), HUMIR (Hungary; n = 23 685), NORMI (Norway; n = 12 414, data for 2013–2016), and SWEDEHEART (Sweden; n = 23 342). Estonia and Hungary had a higher proportion of women, patients with hypertension, diabetes, and peripheral artery disease compared to Norway and Sweden. Rates of reperfusion varied from 75.7% in Estonia to 84.0% in Sweden. Rates of recommendation of discharge medications were generally high and similar. However, Estonia demonstrated the lowest rates of dual antiplatelet therapy (78.1%) and statins (86.5%). Norway had the lowest rates of beta-blockers (80.5%) and angiotensin-converting enzyme inhibitors/angiotensin II receptor blockers (61.5%). The 30-day mortality rates ranged between 9.9% and 13.4% remaining lowest in Sweden. One-year mortality rates ranged from 14.8% in Sweden and 16.0% in Norway to 20.6% in Hungary and 21.1% in Estonia. Age-adjusted lethality rates were highest for Hungary and lowest for Sweden.

Conclusion
This inter-country comparison of data from four national ongoing European registries provides new insights into the risk factors, management and outcomes of patients with STEMI. There are several possible reasons for the findings, including coverage of the registries and variability of baseline-characteristics’ definitions that need to be further explored.
Concurrent use of P-glycoprotein or Cytochrome 3A4 drugs and non-vitamin K antagonist oral anticoagulants in non-valvular atrial fibrillation
Authors: Sandhu Roopinder K , Islam Sunjidatul , Dover Douglas C , Andrade Jason G , Ezekowitz Justin , McAlister Finlay A , Hawkins Nathaniel M , Kaul Padma 
Published: January 2021

Abstract

Aim
To determine the concurrent use of P-glycoprotein (P-gp) or Cytochrome (CYP) 3A4 drugs and non-vitamin K antagonist oral anticoagulants (NOACs) among non-valvular AF (NVAF) patients in clinical practice.

Methods and results
Administrative databases identified all adults (≥18 years) with incident or prevalent NVAF who initiated a NOAC in an outpatient or inpatient setting, between July 2012 and March 2019 in Alberta, Canada. Concurrent use was defined as a P-gp or CYP3A4 dispensation in the 100 days prior to and overlapping NOAC dispensation. The P-gp and CYP3A4 drugs were categorized into three groups and drug-drug interactions classified according to the 2018 European Heart Rhythm Association practical guide. Time-varying Cox models calculated the crude hazard ratio (HR) of outcomes at 1-year. A total of 642 255 NOAC dispensations occurred for 36 566 NVAF patients. Of these, 71 643 (11.2%) had a concurrent dispensation of an interacting P-gp or CYP3A4 drug. Overall, the drug–drug interaction was defined as contraindicated in 2.5%, avoid/caution in 2.3%, and for another 6.7% should require a dose adjustment. When all drug–drug interactions were considered, inappropriate NOAC prescribing occurred in 63% (n = 45 080) of dispensations. There was a significantly higher risk of death (HR 1.58, 1.47–1.70) for a drug–drug interaction but not for stroke (P = 0.89) or major bleeding risk (P = 0.13).

Conclusions
The concurrent use of P-gp or CYP3A4 drugs and NOACs was uncommon but important since almost two-thirds of patients with drug–drug interactions had inappropriate NOAC dosing and a higher risk of death. More attention to this issue is needed.
Future burden of cardiovascular disease in Australia: impact on health and economic outcomes between 2020 and 2029
Authors: Marquina Clara , Talic Stella , Vargas-Torres Sandra , Petrova Marjana , Abushanab Dina , Owen Alice , Lybrand Sean , Thomson David , Liew Danny , Zomer Ella , Ademi Zanfina 
Published: January 2021

Abstract

Aims
To estimate the health and economic burden of new and established cardiovascular disease from 2020 to 2029 in Australia.

Methods and results
A two-stage multistate dynamic model was developed to predict the burden of the incident and prevalent cardiovascular disease, for Australians 40–90 years old from 2020 to 2029. The model captured morbidity, mortality, years of life lived, quality-adjusted life years, healthcare costs, and productivity losses. Cardiovascular risk for the primary prevention population was derived using Australian demographic data and the Pooled Cohort Equation. Risk for the secondary prevention population was derived from the REACH registry. Input data for costs and utilities were extracted from published sources. All outcomes were annually discounted by 5%. A number of sensitivity analyses were undertaken to test the robustness of the study. Between 2020 and 2029, the model estimates 377 754 fatal and 991 375 non-fatal cardiovascular events. By 2029, 1 061 756 Australians will have prevalent cardiovascular disease (CVD). The population accrued 8 815 271 [95% uncertainty interval (UI) 8 805 083–8 841 432] years of life lived with CVD and 5 876 975 (5 551 484–6 226 045) QALYs. The total healthcare costs of CVD were projected to exceed Australian dollars (AUD) 61.89 (61.79–88.66) billion, and productivity losses will account for AUD 78.75 (49.40–295.25) billion, driving the total cost to surpass AUD 140.65 (123.13–370.23) billion.

Conclusion
Cardiovascular disease in Australia has substantial impacts in terms of morbidity, mortality, and lost revenue to the healthcare system and the society. Our modelling provides important information for decision making in relation to the future burden of cardiovascular disease.
EVIDENCE FOR EXTENSIVE GENETIC DIFFERENTIATION BETWEEN THE SEX-RATIO AND THE STANDARD ARRANGEMENT OF DROSOPHILA PSEUDOOBSCURA AND D. PERSIMILIS AND IDENTIFICATION OF HYBRID STERILITY FACTORS
Authors: Wu Chung-I , Beckenbach Andrew T 
Published: January 2021

ABSTRACT
This study deals with sex-ratio genes tightly linked within the Sex-Ratio inversion. By taking advantage of the fact that the Sex-Ratio chromosome of Drosophila persimilis [SR(B)] is homosequential to the Standard chromosome of D. pseudoobscura [ST(A)], we carried out two reciprocal introgression experiments. Individual segments of SR(B) or ST(A) were introgressed into the genome of D. pseudoobscura or D. persimilis, respectively. Males possessing a hybrid SR(B)-ST(A) X chromosome and a genetic background derived from either of the two species were tested for fertility and sex-ratio expression.—It was found that, in terms of the meiotic drive genes, the Sex-Ratio chromosome differs extensively from the Standard chromosome. Because recombinations of these genes result in a complete loss of sex-ratio expression, this finding lends strong support to the hypothesis of gene coadaptation. Coadaptation, in this context, is the advantage of being transmitted preferentially. In light of this finding, the evolution of the sex-ratio system in these two sibling species is discussed.—Introgression experiments also yielded information about hybrid sterility. With reciprocal introgression, sterility interactions were found to be "asymmetric." The asymmetry is fully expected from the viewpoint of evolution of postmating reproductive isolation.
SELECTION AND ENDPOINT DISTRIBUTION OF BACTERIAL INVERSION MUTATIONS
Authors: Schmid Molly B , Roth John R 
Published: January 2021

ABSTRACT
This paper describes the isolation and characterization of spontaneous inversion mutants of Salmonella typhimurium. The mutants are selected by demanding that an unexpressed hisD gene acquire a new promoter. Chromosome rearrangements that juxtapose the hisD gene and a foreign promoter are obtained by this selection. Although a number of inversions are found, the frequency was lower than expected. The breakpoints of these inversions are not distributed randomly either in the his operon or on the chromosome. The his breakpoint lies in the hisG-hisD intercistronic region, a sequence known to occur at several places on the bacterial chromosome. In most of the inversions, the "non-his" breakpoint lies across the chromosome, so that the inverted region includes the origin or terminus of DNA replication. The significance of these results is discussed.
GENETIC LINKAGE IN THE HORSE. II. DISTRIBUTION OF MALE RECOMBINATION ESTIMATES AND THE INFLUENCE OF AGE, BREED AND SEX ON RECOMBINATION FREQUENCY
Authors: Andersson Leif , Sandberg Kaj 
Published: January 2021

ABSTRACT
n the present study an extensive amount of data, comprising more than 30,000 offspring in total, was analyzed to evaluate the influence of age and sex on the recombination frequency in the K-PGD segment of the equine linkage group (LG) I and the influence of age, breed and sex on recombination in the Al-Es segment of LG II. A highly significant sex difference is reported for both segments. Male and female recombination values in the K-PGD segment were estimated at 25.8 ± 0.8 and 33.3 ± 2.5%, respectively. Similarly, recombination was less frequent in the male (36.6 ± 0.7%) than in the female (46.6 ± 1.2%) in the Al-Es segment. Comparison of data from two Swedish horse breeds revealed no significant breed differences in either sex for recombination in the Al-Es segment. No evidence of an age effect was found in any segment or sex. The distribution of individual male recombination estimates was also investigated, and a significant heterogeneity among stallions was revealed in the K-PGD segment. The results are discussed in relation to previous studies on factors affecting recombination in mammals.
AN ANALYSIS OF REGIONAL CONSTRAINTS ON EXCHANGE IN DROSOPHILA MELANOGASTER USING RECOMBINATION-DEFECTIVE MEIOTIC MUTANTS
Authors: Szauter Paul 
Published: January 2021

ABSTRACT
The frequency of crossing over per unit of physical distance varies systematically along the chromosomes of Drosophila melanogaster. The regional distribution of crossovers in a series of X chromosomes of the same genetic constitution, but having different sequences, was compared in the presence and absence of normal genetically mediated regional constraints on exchange. Recombination was examined in Drosophila melanogaster females homozygous for either normal sequence X chromosomes or any of a series of X chromosome inversions. Autosomally, these females were either (1) wild type, (2) homozygous for one of several recombination-defective meiotic mutations that attenuate the normal regional constraints on exchange or (3) heterozygous for the multiply inverted chromosome TM2. The results show that the centromere, the telomeres, the heterochromatin and the euchromatic-heterochromatic junction do not serve as elements that respond to genic determinants of the regional distribution of exchanges. Instead, the results suggest that there are several elements sparsely distributed in the X chromosome euchromatin. Together with the controlling system affected by recombination-defective meiotic mutations, these elements specify the regional distribution of exchanges. The results also demonstrate that the alteration in the distribution of crossovers caused by inversion heterozygosity (the interchromosomal effect) results from the response of a normal controlling system to an overall increase in the frequency of crossing over, rather than from a disruption of the system of regional constraints on exchange that is disrupted by meiotic mutations. The mechanisms by which regional constraints on exchange might be established are discussed, as is the possible evolutionary significance of this system.
DISTRIBUTION OF NONSTRUCTURAL VARIATION ALONG THREE CHROMOSOME ARMS BETWEEN WHEAT CULTIVARS CHINESE SPRING AND CHEYENNE
Authors: Crossway Anne , Dvořák Jan 
Published: January 2021

ABSTRACT
Metaphase I (MI) pairing of wheat homologous chromosomes is usually reduced in hybrids between cultivars relative to the parental inbred lines. Previous work suggested that this phenomenon is caused by polymorphism in nucleotide sequences (nonstructural chromosome variation) among wheat cultivars. The present work investigated the distribution of this variation along three selected chromosome arms between cultivars Chinese Spring and Cheyenne. Chinese Spring ditelosomics 3Aq, 6Ap and 6Bp were crossed with disomic substitutions of Cheyenne chromosomes 3A, 6A and 6B in Chinese Spring, respectively. The resulting F1 plants, called substituted monotelodisomics, were crossed with the respective Chinese Spring monosomics, producing potentially "recombinant" substituted monosomics. When these "recombinant" chromosomes were combined with the parental Chinese Spring telosomes, marked reductions in mean telosome-pairing frequency were found compared with the corresponding Chinese Spring monotelodisomics. The mean pairing frequencies of the "recombinant" chromosomes showed a continuous distribution between those of the substituted and Chinese Spring monotelodisomics. The results suggest that the nonstructural variation that reduces MI pairing between chromosomes of different wheat cultivars is not localized in a specific site but distributed along each chromosome arm. Little variation was found among monotelodisomics for either the number of ring bivalents per cell or the number of univalents other than those constituting the heteromorphic pair. This implies that the reductions in MI pairing between the Cheyenne and Chinese Spring chromosomes are caused by something residing within these specific chromosomes that does not affect the pairing of the remaining Chinese Spring chromosomes in the same cell. Furthermore, the absence of parental types among the "recombinant"-substituted monotelodisomics suggests that the sequences involved in the variation studied here are capable of converting heterohomologous chromosomes to something intermediate in nature in the span of only a single generation.
THE GENETIC ANALYSIS OF A CHROMOSOME-SPECIFIC MEIOTIC MUTANT THAT PERMITS A PREMATURE SEPARATION OF SISTER CHROMATIDS IN DROSOPHILA MELANOGASTER
Authors: Gethmann Richard C 
Published: January 2021

ABSTRACT
mei-G87 is a recessive meiotic mutant that increases second chromosome nondisjunction in both males and females. A significant proportion of the diplo-2 exceptions are equational. In females, diplo-2 reductional exceptions are usually noncrossovers, but, in equational exceptions, crossover frequency and distribution are the same as that found in the haplo-2 controls. The frequencies of nondisjunction are relatively low: 0.6% in females and 1.3% in males. Nondisjunction frequency is affected by environmental conditions (possibly humidity). The defect in mei-G87, as in other "second division" mutants, appears to be a failure to maintain sister-chromatid cohesion. mei-G87 increases nondisjunction of only the second chromosome. This may indicate either a weak mutant with only the second chromosome being sensitive enough to misbehave or it may indicate that chromosome-specific regions responsible for sister-chromatid cohesion exist.
R-STIPPLED MAIZE AS A TRANSPOSABLE ELEMENT SYSTEM
Authors: Williams W M , Satyanarayana K V , Kermicle J L 
Published: January 2021

ABSTRACT
The I-R element at the R locus destabilizes kernel pigmentation giving the variegated pattern known as stippled (R-st). In trans linkage phase with R-st the element was shown to act as a modifier of stippled, intensifying seed spotting in parallel with effects of the dominant linked modifier M-st. Presence of I-R in the genome was, therefore, shown to be detectable as a modifier of R-st. When this test was used, new modifiers resembling M-st were often detected following mutations of R-st to the stable allele R-sc. Such mutations evidently occurred by transposition of I-R away from the R locus to a site where it was identifiable as a modifier. M-st may be such a transposed I-R. Analysis of mutations to R-sc during the second (sperm-forming) mitosis in pollen grains showed that some of the transposed I-R elements were linked with R, whereas others assorted independently. Their strengths varied from barely discernible to a level equal to M-st. Overreplication frequently accompanied transposition at the sperm-forming mitosis, leading to transposed I-R elements in both the mutant and nonmutant sperm.
CYTOGENETIC ANALYSIS OF A SEGMENT OF THE Y CHROMOSOME OF DROSOPHILA MELANOGASTER
Authors: Hardy Robert W , Lindsley Dan L , Livak Kenneth J , Lewis Barbara , Siversten Annegrethe L , Joslyn Geoffrey L , Edwards Jacqueline , Bonaccorsi Silvia 
Published: January 2021

ABSTRACT
Males carrying a large deficiency in the long arm of the Y chromosome known to delete the fertility gene kl-2 are sterile and exhibit a complex phenotype: (1) First metaphase chromosomes are irregular in outline and appear sticky; (2) spermatids contain micronuclei; (3) the nebenkerns of the spermatids are nonuniform in size; (4) a high molecular weight protein ordinarily present in sperm is absent; and (5) crystals appear in the nucleus and cytoplasm of spermatocytes and spermatids. In such males that carry Ste + on their X chromosome the crystals appear long and needle shaped; in Ste males the needles are much shorter and assemble into star-shaped aggregates. The large deficiency may be subdivided into two shorter component deficiencies. The more distal is male sterile and lacks the high molecular weight polypeptide; the more proximal is responsible for the remainder of the phenotype. Ste males carrying the more proximal component deficiency are sterile, but Ste + males are fertile. Genetic studies of chromosome segregation in such males reveal that (1) both the sex chromosomes and the large autosomes undergo nondisjunction, (2) the fourth chromosomes disjoin regularly, (3) sex chromosome nondisjunction is more frequent in cells in which the second or third chromosomes nondisjoin than in cells in which autosomal disjunction is regular, (4) in doubly exceptional cells, the sex chromosomes tend to segregate to the opposite pole from the autosomes and (5) there is meiotic drive; i.e., reciprocal meiotic products are not recovered with equal frequencies, complements with fewer chromosomes being recovered more frequently than those with more chromosomes. The proximal component deficiency can itself be further subdivided into two smaller component deficiencies, both of which have nearly normal spermatogenic phenotypes as observed in the light microscope. Meiosis in Ste + males carrying either of these small Y deficiencies is normal; Ste males, however, exhibit low levels of sex chromosome nondisjunction with either deficient Y. The meiotic phenotype is apparently sensitive to the amount of Y chromosome missing and to the Ste constitution of the X chromosome.
ORGANIZATION AND MAPPING OF A SEQUENCE ON THE DROSOPHILA MELANOGASTER X AND Y CHROMOSOMES THAT IS TRANSCRIBED DURING SPERMATOGENESIS
Authors: Livak Kenneth J 
Published: January 2021

ABSTRACT
The D. melanogaster DNA segment in the recombinant phage λDm2L1 contains at least eight copies of a tandemly repeated 1250-base pair (bp) sequence (henceforth called the 2L1 sequence). Testes from XO D. melanogaster males contain an abundant 800-base RNA species that is homologous to a 520-bp region of the 2L1 sequence. Blotting experiments show that the 2L1 sequence is repeated in the D. melanogaster genome and is present on both the X and Y chromosomes. With the use of X-Y translocations, the 2L1 sequence has been mapped to a region between kl-1 and kl-2 on the long arm of the Y chromosome. In Oregon-R wild type there are an estimated 200 copies of the 2L1 sequence on the X chromosome and probably at least 80 copies on the Y chromosome. In some other strains the repetition frequency on the Y chromosome is about the same, but the copy number on the X chromosome is much reduced. On the basis of the five strains investigated, there is a correlation between copy number of the 2L1 sequence on the X chromosome and the presence of a particular allele of the Stellate locus (Ste; 1-45.7). It seems that low copy number corresponds to Ste + and high copy number corresponds to Ste. The Ste locus determines whether single or star-shaped crystals are observed in the spermatocytes of XO males. Studies using D. simulans and D. mauritiana DNA show that the 2L1 sequence is homologous to restriction fragments in male DNA but not female DNA, indicating that this sequence is present only on the Y chromosome in these two species. In DNA derived from D. erecta, D. teissieri and D. yakuba, there is very little, if any, hybridization with the 2L1 sequence probe.
MUTATIONS AND CHROMOSOMAL REARRANGEMENTS AFFECTING THE EXPRESSION OF SNAIL, A GENE INVOLVED IN EMBRYONIC PATTERNING IN DROSOPHILA MELANOGASTER
Authors: Grau Yves , Carteret Cathie , Simpson Pat 
Published: January 2021

ABSTRACT
Mutants at the snail locus are zygotically acting embryonic lethals that affect dorsoventral patterning. A comparison of seven mutant alleles shows considerable variation in expressivity and a graded effect along the dorsoventral axis: more extreme alleles result in the abnormal development of the dorsally derived ectoderm as well as the ventrally derived mesoderm, whereas weaker alleles affect only development of the mesoderm. Animals transheterozygous for different mutant alleles occasionally survive to adulthood; they frequently have missing halteres and more rarely are hemithorax. The mutant phenotype of snail is shown here to be enhanced zygotically by haploidy of two nearby regions on the second chromosome: the elbow to no-ocelli region and the interval defined by l(2)br36 and l(2)br37. It is concluded that the products of all of these genes function together in the process of specification of pattern in the embryo.
TIME OF RECOMBINATION IN THE DROSOPHILA MELANOGASTER OOCYTE. III. SELECTION AND CHARACTERIZATION OF TEMPERATURE-SENSITIVE AND -INSENSITIVE, RECOMBINATION-DEFICIENT ALLELES IN DROSOPHILA
Authors: Grell R F 
Published: January 2021

ABSTRACT
The procedure for the selection of a temperature-sensitive recombination mutant in Drosophila is described. Use of this procedure has led to the recovery of three alleles at a new recombination locus called rec-1, located within the region of chromosome 3 circumscribed by Deficiency(3R)sbd 105. One allele, rec-1 26, is temperature sensitive, and the other two alleles, rec-1 6 and rec-1 16, are temperature insensitive. Gene dosage studies reveal rec-1 26 to be a leaky mutant with greater recombination activity in two doses than in one. The other two alleles show no dose response, implying that they may be null mutants. The temperature response curves of rec-1 26 as a homozygote and in heteroallelic combination with rec-1 16 suggest that the sharp decrease in recombination between 28° and 31° indicates temperature denaturation of an enzyme or other protein specified by the mutant and associated with the recombination process. The ability of small changes in temperature to reverse or abolish polarity in recombination along the X chromosome arm in rec-1 26/rec-1 16 females brings into question the use of the "polarity" criterion to partition mutants into two functional types, i.e., precondition mutants that display polarity and exchange mutants that do not. Evidence that rec-1 may be part of a complex locus residing in a chromosome segment harboring a variety of recombination-related genes is presented.