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1.
BMC Psychiatry ; 23(1): 336, 2023 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-37173664

RESUMO

BACKGROUND: Studies using self-reports indicate that individuals with ADHD are at increased risk for functional impairments in social and occupational settings, but evidence around real-life instability remains limited. It is furthermore unclear if these functional impairments in ADHD differ across sex and across the adult lifespan. METHOD: A longitudinal observational cohort design of 3,448,440 individuals was used to study the associations between ADHD and residential moves, relational instability and job shifting using data from Swedish national registers. Data were stratified on sex and age (18-29 years, 30-39 years, and 40-52 years at start of follow up). RESULTS: 31,081 individuals (17,088 males; 13,993 females) in the total cohort had an ADHD-diagnosis. Individuals with ADHD had an increased incidence rate ratio (IRR) of residential moves (IRR 2.35 [95% CI, 2.32-2.37]), relational instability (IRR = 1.07 [95% CI, 1.06-1.08]) and job shifting (IRR = 1.03 [95% CI, 1.02-1.04]). These associations tended to increase with increasing age. The strongest associations were found in the oldest group (40-52 years at start of follow). Women with ADHD in all three age groups had a higher rate of relational instability compared to men with ADHD. CONCLUSION: Both men and women with a diagnosis of ADHD present with an increased risk of real-life instability in different domains and this behavioral pattern was not limited to young adulthood but also existed well into older adulthood. It is therefore important to have a lifespan perspective on ADHD for individuals, relatives, and the health care sector.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Adulto , Masculino , Humanos , Feminino , Idoso , Adulto Jovem , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Incidência , Suécia/epidemiologia
2.
Dent Traumatol ; 37(5): 717-724, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34120401

RESUMO

BACKGROUND/AIMS: Traumatic dental injuries (TDI) are complex problems where lack of proper care may result in serious complications. The need to improve the management of TDI is a frequently addressed concern. Methods of improvement in their diagnosis and management are continuously evolving. The interactive Internet tool, the Dental Trauma Guide (DTG), helps to simplify diagnostic and management dilemmas. However, it is not a freely available tool. The aim of the current study was to assess the knowledge and diagnostic skills of undergraduate dental students with access to the DTG compared with students without such access, in order to validate and promote this tool in dental education. MATERIALS AND METHODS: Two groups of students were randomly selected where one group of final year dental undergraduate students were exposed to lectures, demonstrations, discussions and tutorials on the management of TDI according to the standard undergraduate curriculum in Sri Lanka. Another test group of 21 students were provided with access to DTG during their training in paediatric dentistry. At the end of the study period, students were assessed on their knowledge of TDI using MCQs (Multiple Choice Questions) and OSCEs (Objective Structured Clinical Examination), based on the DTG. RESULTS: The students with access to the DTG were more knowledgeable in providing the correct answers to three out of the seven OSCE questions. Evaluation based on the MCQs did not reveal a significant difference (p = .913). However, users of the DTG showed a statistically significant difference with better overall knowledge based on their answers (p = .028). Following this period of evaluation, all of the students were provided with access to the DTG to supplement their learning experience. CONCLUSION: The Dental Trauma Guide is a useful supplementary tool for undergraduate students to arrive at a correct diagnosis and treatment plan for TDI.


Assuntos
Currículo , Traumatismos Dentários , Criança , Competência Clínica , Humanos , Odontopediatria , Estudantes , Traumatismos Dentários/diagnóstico , Traumatismos Dentários/terapia
3.
J Intern Med ; 288(4): 422-438, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-31846520

RESUMO

BACKGROUND: Renewed interest in triglyceride-rich lipoproteins as causative agents in cardiovascular disease mandates further exploration of the integrated metabolism of chylomicrons and very low-density lipoproteins (VLDL). METHODS: Novel tracer techniques and an integrated multi-compartmental model were used to determine the kinetics of apoB48- and apoB100-containing particles in the chylomicron and VLDL density intervals in 15 subjects with a wide range of plasma triglyceride levels. RESULTS: Following a fat-rich meal, apoB48 appeared in the chylomicron, VLDL1 and VLDL2 fractions in all subjects. Chylomicrons cleared rapidly from the circulation but apoB48-containing VLDL accumulated, and over the day were 3-fold higher in those with high versus low plasma triglyceride. ApoB48-containing particles were secreted directly into both the chylomicron and VLDL fractions at rates that were similar across the plasma triglyceride range studied. During fat absorption, whilst most triglyceride entered the circulation in chylomicrons, the majority of apoB48 particles were secreted into the VLDL density range. CONCLUSION: The intestine secretes apoB48-containing particles not only as chylomicrons but also directly into the VLDL1 and VLDL2 density ranges both in the basal state and during dietary lipid absorption. Over the day, apoB48-containing particles appear to comprise about 20-25% of circulating VLDL and, especially in those with elevated triglycerides, form part of a slowly cleared 'remnant' particle population, thereby potentially increasing CHD risk. These findings provide a metabolic understanding of the potential consequences for increased CHD risk when slowed lipolysis leads to the accumulation of remnants, especially in individuals with hypertriglyceridemia.


Assuntos
Apolipoproteína B-48/metabolismo , Quilomícrons/sangue , Fatores de Risco de Doenças Cardíacas , Hipertrigliceridemia/sangue , Lipoproteínas VLDL/sangue , Lipoproteínas/sangue , Triglicerídeos/sangue , Apolipoproteína B-100/sangue , Humanos , Lipólise , Lipoproteínas VLDL/metabolismo , Masculino , Pessoa de Meia-Idade , Transporte Proteico
4.
J Intern Med ; 285(5): 562-577, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30779243

RESUMO

BACKGROUND: Triglyceride-rich lipoproteins and their remnants have emerged as major risk factors for cardiovascular disease. New experimental approaches are required that permit simultaneous investigation of the dynamics of chylomicrons (CM) and apoB48 metabolism and of apoB100 in very low-density lipoproteins (VLDL). METHODS: Mass spectrometric techniques were used to determine the masses and tracer enrichments of apoB48 in the CM, VLDL1 and VLDL2 density intervals. An integrated non-steady-state multicompartmental model was constructed to describe the metabolism of apoB48- and apoB100-containing lipoproteins following a fat-rich meal, as well as during prolonged fasting. RESULTS: The kinetic model described the metabolism of apoB48 in CM, VLDL1 and VLDL2 . It predicted a low level of basal apoB48 secretion and, during fat absorption, an increment in apoB48 release into not only CM but also directly into VLDL1 and VLDL2 . ApoB48 particles with a long residence time were present in VLDL, and in subjects with high plasma triglycerides, these lipoproteins contributed to apoB48 measured during fasting conditions. Basal apoB48 secretion was about 50 mg day-1 , and the increment during absorption was about 230 mg day-1 . The fractional catabolic rates for apoB48 in VLDL1 and VLDL2 were substantially lower than for apoB48 in CM. DISCUSSION: This novel non-steady-state model integrates the metabolic properties of both apoB100 and apoB48 and the kinetics of triglyceride. The model is physiologically relevant and provides insight not only into apoB48 release in the basal and postabsorptive states but also into the contribution of the intestine to VLDL pool size and kinetics.


Assuntos
Apolipoproteína B-100/metabolismo , Apolipoproteína B-48/metabolismo , Modelos Biológicos , Adulto , Humanos , Cinética , Lipoproteínas VLDL/metabolismo , Masculino , Pessoa de Meia-Idade
5.
Eur J Clin Microbiol Infect Dis ; 36(3): 529-536, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27822652

RESUMO

A lack of sensitive tests and difficulties obtaining representative samples contribute to the challenge in identifying etiology in pneumonia. Upper respiratory tract swabs can be easily collected and analyzed with real-time PCR (rtPCR). Common pathogens such as S. pneumoniae and H. influenzae can both colonize and infect the respiratory tract, complicating the interpretation of positive results. Oropharyngeal swabs were collected (n = 239) prospectively from adults admitted to hospital with pneumonia. Analysis with rtPCR targeting S. pneumoniae and H. influenzae was performed and results compared with sputum cultures, blood cultures, and urine antigen testing for S. pneumoniae. Different Ct cutoff values were applied to positive tests to discern colonization from infection. Comparing rtPCR with conventional testing for S. pneumoniae in patients with all tests available (n = 57) resulted in: sensitivity 87 %, specificity 79 %, PPV 59 % and NPV 94 %, and for H. influenzae (n = 67): sensitivity 75 %, specificity 80 %, PPV 45 % and NPV 94 %. When patients with prior antimicrobial exposure were excluded sensitivity improved: 92 % for S. pneumoniae and 80 % for H. influenzae. Receiver operating characteristic curve analysis demonstrated for S. pneumoniae: AUC = 0.65 (95 % CI 0.51-0.80) and for H. influenzae: AUC = 0.86 (95 % CI 0.72-1.00). Analysis of oropharyngeal swabs using rtPCR proved both reasonably sensitive and specific for diagnosing pneumonia caused by S. pneumoniae and H. influenzae. This method may be a useful diagnostic adjunct to other methods and of special value in patients unable to provide representative lower airway samples.


Assuntos
Haemophilus influenzae/isolamento & purificação , Técnicas de Diagnóstico Molecular/métodos , Orofaringe/microbiologia , Pneumonia Bacteriana/diagnóstico , Reação em Cadeia da Polimerase em Tempo Real/métodos , Streptococcus pneumoniae/isolamento & purificação , Adulto , Idoso , Feminino , Haemophilus influenzae/genética , Humanos , Masculino , Pessoa de Meia-Idade , Pneumonia Bacteriana/microbiologia , Valor Preditivo dos Testes , Estudos Prospectivos , Curva ROC , Sensibilidade e Especificidade , Streptococcus pneumoniae/genética
6.
Anim Genet ; 48(6): 694-697, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29023800

RESUMO

The Icelandic horse is a breed known mainly for its ability to perform the ambling four-beat gait 'tölt' and the lateral two-beat gait pace. The natural ability of the breed to perform these alternative gaits is highly desired by breeders. Therefore, the discovery that a nonsense mutation (C>A) in the DMRT3 gene was the main genetic factor for horses' ability to perform gaits in addition to walk, trot and canter was of great interest. Although several studies have demonstrated that homozygosity for the DMRT3 mutation is important for the ability to pace, only about 70% of the homozygous mutant (AA) Icelandic horses are reported to pace. The aim of the study was to genetically compare four- and five-gaited (i.e. horses with and without the ability to pace) AA Icelandic horses by performing a genome-wide association (GWA) analysis. All horses (n = 55) were genotyped on the 670K Axiom Equine Genotyping Array, and a GWA analysis was performed using the genabel package in r. No SNP demonstrated genome-wide significance, implying that the ability to pace goes beyond the presence of a single gene variant. Despite its limitations, the current study provides additional information regarding the genetic complexity of pacing ability in horses. However, to fully understand the genetic differences between four- and five-gaited AA horses, additional studies with larger sample materials and consistent phenotyping are needed.


Assuntos
Marcha/genética , Cavalos/genética , Fatores de Transcrição/genética , Animais , Cruzamento , Códon sem Sentido , Estudos de Associação Genética , Genótipo , Homozigoto , Islândia , Mutação , Projetos Piloto , Polimorfismo de Nucleotídeo Único
7.
Anim Genet ; 48(3): 349-352, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28084638

RESUMO

Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid-coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum-likelihood chi-square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P < 0.05) and with total white markings (P < 0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P < 0.05) with a relative contribution of 41.2%. The g.20147039C>T intronic variant located 29.9 kb downstream from the transcription start site of the MITF gene was associated with less white markings on forelimbs (P < 0.05) in PRMe horses, with a relative contribution of 63.9%, whereas in PRE horses this variant was associated with white facial markings (P < 0.05), with a relative contribution of 63.9%. No significant associations were found for PAX3 variants in these breeds. These results show that KIT and MITF variants are involved in the white marking patterns of both PRMe and PRE horses, providing breeders with an opportunity to use genetic testing to aid in breeding for their desired level of white markings.


Assuntos
Cor de Cabelo/genética , Cavalos/genética , Fator de Transcrição Associado à Microftalmia/genética , Fator de Transcrição PAX3/genética , Proteínas Proto-Oncogênicas c-kit/genética , Animais , Cruzamento , Estudos de Associação Genética , Modelos Genéticos , Espanha
8.
Anim Genet ; 48(5): 551-559, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28741731

RESUMO

A previous study revealed a strong association between the DMRT3:Ser301STOP mutation in horses and alternate gaits as well as performance in harness racing. Several follow-up studies have confirmed a high frequency of the mutation in gaited horse breeds and an effect on gait quality. The aim of this study was to determine when and where the mutation arose, to identify additional potential causal mutations and to determine the coalescence time for contemporary haplotypes carrying the stop mutation. We utilized sequences from 89 horses representing 26 breeds to identify 102 SNPs encompassing the DMRT3 gene that are in strong linkage disequilibrium with the stop mutation. These 102 SNPs were genotyped in an additional 382 horses representing 72 breeds, and we identified 14 unique haplotypes. The results provided conclusive evidence that DMRT3:Ser301STOP is causal, as no other sequence polymorphisms showed an equally strong association to locomotion traits. The low sequence diversity among mutant chromosomes demonstrated that they must have diverged from a common ancestral sequence within the last 10 000 years. Thus, the mutation occurred either just before domestication or more likely some time after domestication and then spread across the world as a result of selection on locomotion traits.


Assuntos
Evolução Molecular , Marcha/genética , Haplótipos , Cavalos/genética , Fatores de Transcrição/genética , Animais , Cruzamento , Códon de Terminação/genética , Análise Mutacional de DNA , Desequilíbrio de Ligação , Mutação , Fenótipo , Polimorfismo de Nucleotídeo Único
9.
J Intern Med ; 279(1): 78-88, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26147463

RESUMO

BACKGROUND: CD3(+) CD56(+) natural killer T (NKT)-like cells are a subset of T cells characterized by expression of NK receptors and potent antitumour activity. It has also been suggested that they have a role in autoimmune disease, and levels of NKT-like cells are elevated in patients with coronary disease. OBJECTIVES: To investigate whether high levels of CD3(+) CD56(+) NKT-like cells are associated with an increased incidence of cardiovascular disease and a lower incidence of cancer. METHODS: This was a prospective study including 700 subjects participating in the baseline investigation of the Malmö Diet and Cancer study between 1991 and 1994. Leucocytes obtained at the baseline investigation and stored at -140 °C were thawed and CD3(+) CD56(+) cells analysed by flow cytometry. The incidence rates of cancer and coronary events during a mean follow-up of 15 years were determined through national registers. RESULTS: Subjects in the lowest tertile of interferon (IFN)-γ-expressing CD4(+) CD56(+) cells were found to have an increased risk of incidence of coronary events (log-rank test: P < 0.05). This association remained significant after controlling for age, sex, smoking, body mass index, hypertension, diabetes and the Th1/Th2 and Th1/Treg cell ratios in a Cox proportional hazards regression model (hazard ratio 1.98, 95% confidence interval 1.24-3.16), but not when the LDL/HDL ratio was included in the model. There were no associations between CD3(+) CD56(+) NKT-like cells and incident cancer. CONCLUSIONS: The present results could not confirm the hypothesis that low levels of CD3(+) CD56(+) NKT-like cells are associated with a higher incidence of cancer and a lower incidence of cardiovascular disease. However, we found that low levels of IFN-γ-expressing CD3(+) CD4(+) CD56(+) NKT-like cells were associated with an increased incidence of coronary events and that this association may be dependent on lipoproteins.


Assuntos
Antígenos CD4/sangue , Antígeno CD56/sangue , Doença das Coronárias/sangue , Interferon gama/metabolismo , Células T Matadoras Naturais/imunologia , Fragmentos de Peptídeos/metabolismo , Idoso , Complexo CD3/sangue , Citocinas/sangue , Feminino , Citometria de Fluxo , Humanos , Masculino , Células T Matadoras Naturais/metabolismo , Estudos Prospectivos
10.
Scand J Public Health ; 44(2): 217-23, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26614635

RESUMO

AIMS: Epidemiological studies of patients with major trauma, including both hospitalized and immediately deceased whom are undergoing medico-legal autopsy, are very rare. We studied the incidence and mortality of major trauma in all 10 districts in the Scandinavian city of Malmö, Sweden, and the association between socio-economic status and major trauma. METHODS: Major trauma was defined as a New Injury Severity Score > 15, or a lethal outcome due to trauma. Cases with a registration address in Malmö between 1 January 2011 and 31 December 2013 were identified from the red trauma alarm list in the hospital and the autopsy register in the Forensic Department. Statistics Sweden matched each case with four randomly selected age-, gender- and district-matched controls. Social assistance within the household, level of education, income and capital income were compared. RESULTS: We identified 117 cases (80 men and 37 women) with a median age of 48.0 years (IQR 28.5-65.0). The incidence of major trauma in Malmö was 12.7 (95% CI 10.4-15.0) per 100,000 person-years; and 69 died due to major trauma, with 8.4 (95% CI 6.4-10.4) per 1000 deaths. Lower income (p = 0.024), no income (OR 1.6; 95% CI 1.0-2.4; p = 0.037) and social assistance (OR 2.3; 95% CI 1.3-4.1; p = 0.003) were associated with major trauma. The level of education was not found to be related to major trauma (p = 0.47). CONCLUSIONS: Low income and social assistance within the household were associated with major trauma in the city of Malmö, but not the level of education; in this age-, gender- and district-matched case-control study of major trauma.


Assuntos
Cidades , Disparidades nos Níveis de Saúde , Saúde da População Urbana/estatística & dados numéricos , Ferimentos e Lesões/epidemiologia , Adulto , Idoso , Estudos de Casos e Controles , Criança , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Pobreza/estatística & dados numéricos , Fatores de Risco , Seguridade Social/estatística & dados numéricos , Fatores Socioeconômicos , Suécia/epidemiologia , Ferimentos e Lesões/mortalidade
11.
Phys Rev Lett ; 115(24): 242502, 2015 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-26705628

RESUMO

Two short-lived isotopes ^{221}U and ^{222}U were produced as evaporation residues in the fusion reaction ^{50}Ti+^{176}Yb at the gas-filled recoil separator TASCA. An α decay with an energy of E_{α}=9.31(5) MeV and half-life T_{1/2}=4.7(7) µs was attributed to ^{222}U. The new isotope ^{221}U was identified in α-decay chains starting with E_{α}=9.71(5) MeV and T_{1/2}=0.66(14) µs leading to known daughters. Synthesis and detection of these unstable heavy nuclei and their descendants were achieved thanks to a fast data readout system. The evolution of the N=126 shell closure and its influence on the stability of uranium isotopes are discussed within the framework of α-decay reduced width.

12.
Anim Genet ; 46(6): 676-82, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26417640

RESUMO

A candidate gene analysis of the microphthalmia-associated transcription factor (MITF) gene was used in an attempt to identify the genetic basis for a white-spotted coat color phenotype in the Asian swamp buffalo (Bubalus bubalis carabanensis). Ninety-three buffaloes-32 solid, 38 spotted and 23 white individuals-were Sanger-sequenced for all MITF exons as well as highly conserved intronic and flanking regions. MITF cDNA representing skin and iris tissue from six spotted, nine solid and one white buffaloes was also Sanger-sequenced to confirm detected mutations. Two independent loss-of-function mutations, a premature stop codon (c.328C>T, p.Arg110*) and a donor splice-site mutation (c.840+2T>A, p.Glu281_Leu282Ins8), both of which cause white-spotted coat color in swamp buffaloes, were identified. The nonsense mutation leads to a premature stop codon in exon 3, and likely removal of the resulting mRNA via nonsense-mediated decay pathway, whereas the donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF. The resulting insertion of eight amino acid residues is expected to perturb the leucine zipper part in the basic helix-loop-helix leucine zipper (bHLH-Zip) domain and will most likely influence dimerization and DNA binding capacity. Electrophoretic mobility shift assay was performed using mutant and wild-type MITF proteins and showed that the mutant MITF protein resulting from the splice-site mutation decreased in vitro DNA binding capacity compared to wild-type MITF. White-spotted buffalo bulls are sacrificed in funeral ceremonies in Tana Toraja, Indonesia, because they are considered holy, and our results show that genetic variation causes a tie to the cultural use of these buffaloes.


Assuntos
Búfalos/genética , Cabelo , Fator de Transcrição Associado à Microftalmia/genética , Pigmentação/genética , Processamento Alternativo , Animais , Análise Mutacional de DNA , Proteínas Mutantes/genética , Fenótipo
13.
Mol Ecol ; 23(9): 2275-86, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24655072

RESUMO

Sexual selection and the ornaments that inform such choices have been extensively studied, particularly from a phenotypic perspective. Although more is being revealed about the genetic architecture of sexual ornaments, much still remains to be discovered. The comb of the chicken is one of the most widely recognized sexual ornaments, which has been shown to be correlated with both fecundity and bone allocation. In this study, we use a combination of multiple intercrosses between White Leghorn populations and wild-derived Red Junglefowl to, first, map quantitative trait loci (QTL) for bone allocation and, second, to identify expression QTL that correlate and colocalize with comb mass. These candidate quantitative genes were then assessed for potential pleiotropic effects on bone tissue and fecundity traits. We identify genes that correlate with both relative comb mass and bone traits suggesting a combination of both pleiotropy and linkage mediates gene regulatory variation in these traits.


Assuntos
Osso e Ossos/anatomia & histologia , Galinhas/anatomia & histologia , Galinhas/genética , Crista e Barbelas/anatomia & histologia , Ligação Genética , Pleiotropia Genética , Locos de Características Quantitativas , Animais , Mapeamento Cromossômico , Cruzamentos Genéticos , Feminino , Fertilidade/genética , Masculino , Fenótipo
14.
Phys Rev Lett ; 112(14): 145002, 2014 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-24765977

RESUMO

Kinetic simulations of magnetotail reconnection have revealed electromagnetic whistlers originating near the exhaust boundary and propagating into the inflow region. The whistler production mechanism is not a linear instability, but rather is Cerenkov emission of almost parallel whistlers from localized moving clumps of charge (finite-size quasiparticles) associated with nonlinear coherent electron phase space holes. Whistlers are strongly excited by holes without ever growing exponentially. In the simulation the whistlers are emitted in the source region from holes that accelerate down the magnetic separatrix towards the x line. The phase velocity of the whistlers vφ in the source region is everywhere well matched to the hole velocity vH as required by the Cerenkov condition. The simulation shows emission is most efficient near the theoretical maximum vφ=half the electron Alfven speed, consistent with the new theoretical prediction that faster holes radiate more efficiently. While transferring energy to whistlers the holes lose coherence and dissipate over a few local ion inertial lengths. The whistlers, however, propagate to the x line and out over many 10's of ion inertial lengths into the inflow region of reconnection. As the whistlers pass near the x line they modulate the rate at which magnetic field lines reconnect.

15.
Phys Rev Lett ; 112(17): 172501, 2014 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-24836239

RESUMO

The superheavy element with atomic number Z=117 was produced as an evaporation residue in the (48)Ca+(249)Bk fusion reaction at the gas-filled recoil separator TASCA at GSI Darmstadt, Germany. The radioactive decay of evaporation residues and their α-decay products was studied using a detection setup that allowed measuring decays of single atomic nuclei with half-lives between sub-µs and a few days. Two decay chains comprising seven α decays and a spontaneous fission each were identified and are assigned to the isotope (294)117 and its decay products. A hitherto unknown α-decay branch in (270)Db (Z = 105) was observed, which populated the new isotope (266)Lr (Z = 103). The identification of the long-lived (T(1/2) = 1.0(-0.4)(+1.9) h) α-emitter (270)Db marks an important step towards the observation of even more long-lived nuclei of superheavy elements located on an "island of stability."

16.
Anim Genet ; 45(2): 274-82, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24444049

RESUMO

For centuries, domestic horses have represented an important means of transport and served as working and companion animals. Although their role in transportation is less important today, many horse breeds are still subject to intense selection based on their pattern of locomotion. A striking example of such a selected trait is the ability of a horse to perform additional gaits other than the common walk, trot and gallop. Those could be four-beat ambling gaits, which are particularly smooth and comfortable for the rider, or pace, used mainly in racing. Gaited horse breeds occur around the globe, suggesting that gaitedness is an old trait, selected for in many breeds. A recent study discovered that a nonsense mutation in DMRT3 has a major impact on gaitedness in horses and is present at a high frequency in gaited breeds and in horses bred for harness racing. Here, we report a study of the worldwide distribution of this mutation. We genotyped 4396 horses representing 141 horse breeds for the DMRT3 stop mutation. More than half (2749) of these horses also were genotyped for a SNP situated 32 kb upstream of the DMRT3 nonsense mutation because these two SNPs are in very strong linkage disequilibrium. We show that the DMRT3 mutation is present in 68 of the 141 genotyped horse breeds at a frequency ranging from 1% to 100%. We also show that the mutation is not limited to a geographical area, but is found worldwide. The breeds with a high frequency of the stop mutation (>50%) are either classified as gaited or bred for harness racing.


Assuntos
Códon sem Sentido , Marcha/genética , Cavalos/genética , Seleção Genética , Animais , Análise Mutacional de DNA , Frequência do Gene , Genótipo , Cavalos/fisiologia , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único
17.
J Anim Breed Genet ; 131(6): 415-25, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25073639

RESUMO

A nonsense mutation in DMRT3 ('Gait keeper' mutation) has a predominant effect on gaiting ability in horses, being permissive for the ability to perform lateral gaits and having a favourable effect on speed capacity in trot. The DMRT3 mutant allele (A) has been found in high frequency in gaited breeds and breeds bred for harness racing, while other horse breeds were homozygous for the wild-type allele (C). The aim of this study was to evaluate further the effect of the DMRT3 nonsense mutation on the gait quality and speed capacity in the multigaited Icelandic horse and demonstrate how the frequencies of the A- and C- alleles have changed in the Icelandic horse population in recent decades. It was confirmed that homozygosity for the DMRT3 nonsense mutation relates to the ability to pace. It further had a favourable effect on scores in breeding field tests for the lateral gait tölt, demonstrated by better beat quality, speed capacity and suppleness. Horses with the CA genotype had on the other hand significantly higher scores for walk, trot, canter and gallop, and they performed better beat and suspension in trot and gallop. These results indicate that the AA genotype reinforces the coordination of ipsilateral legs, with the subsequent negative effect on the synchronized movement of diagonal legs compared with the CA genotype. The frequency of the A-allele has increased in recent decades with a corresponding decrease in the frequency of the C-allele. The estimated frequency of the A-allele in the Icelandic horse population in 2012 was 0.94. Selective breeding for lateral gaits in the Icelandic horse population has apparently altered the frequency of DMRT3 genotypes with a predicted loss of the C-allele in relatively few years. The results have practical implications for breeding and training of Icelandic horses and other gaited horse breeds.


Assuntos
Códon sem Sentido , Lateralidade Funcional/genética , Marcha , Cavalos/genética , Fatores de Transcrição/genética , Animais , Cruzamento/métodos , Genótipo , Islândia
18.
Refuat Hapeh Vehashinayim (1993) ; 31(2): 42-55, 89, 2014 Apr.
Artigo em Hebraico | MEDLINE | ID: mdl-25252471

RESUMO

Traumatic dental injuries (TDIs) of permanent teeth occur frequently in children and young adults. Crown fractures and luxations are the most commonly occurring of all dental injuries. Proper diagnosis, treatment planning and follow up are important for improving a favorable outcome. Guidelines should assist dentists and patients in decision making and for providing the best care effectively and efficiently. The International Association of Dental Traumatology (IADT) has developed a consensus statement after a review of the dental literature and group discussions. Experienced researchers and clinicians from various specialties were included in the group. In cases where the data did not appear conclusive, recommendations were based on the consensus opinion of the IADT board members. The guidelines represent the best current evidence based on literature search and professional opinion. The primary goal of these guidelines is to delineate an approach for the immediate or urgent care of TDIs. In this first article, the IADT Guidelines for management of fractures and luxations of permanent teeth will be presented. The Hebrew Edition is part of the IADT global effort to provide accessibility to these guidelines worldwide.


Assuntos
Avulsão Dentária/terapia , Coroa do Dente/lesões , Fraturas dos Dentes/terapia , Criança , Dentição Permanente , Humanos , Israel , Idioma , Avulsão Dentária/diagnóstico , Fraturas dos Dentes/diagnóstico , Adulto Jovem
19.
Refuat Hapeh Vehashinayim (1993) ; 31(2): 57-68, 90, 2014 Apr.
Artigo em Hebraico | MEDLINE | ID: mdl-25252472

RESUMO

Avulsion of permanent teeth is one of the most serious dental injuries, and a prompt and correct emergency management is very important for the prognosis. The International Association of Dental Traumatology (IADT) has developed a consensus statement after a review of the dental literature and group discussions. Experienced researchers and clinicians from various specialties were included in the task group. The guidelines represent the current best evidence and practice based on literature research and professionals' opinion. In cases where the data did not appear conclusive, recommendations were based on the consensus opinion or majority decision of the task group. Finally, the IADT board members were giving their opinion and approval. The primary goal of these guidelines is to delineate an approach for the immediate or urgent care of avulsed permanent teeth. The Hebrew Edition is part of the IADT global effort to provide a worldwide accessibility to these guidelines. This scond part of the guidelines will focus on avulsion of permanent teeth.


Assuntos
Tratamento de Emergência/métodos , Avulsão Dentária/terapia , Dentição Permanente , Humanos , Israel , Idioma , Avulsão Dentária/diagnóstico
20.
Refuat Hapeh Vehashinayim (1993) ; 31(2): 70-80, 91, 2014 Apr.
Artigo em Hebraico | MEDLINE | ID: mdl-25252473

RESUMO

Traumatic injuries to the primary dentition present special problems and the management is often different as compared with the permanent dentition. The International Association of Dental Traumatology (IADT) has developed a consensus statement after a review of the dental literature and group discussions. Experienced researchers and clinicians from various specialities were included in the task group. In cases where the data did not appear conclusive, recommendations were based on the consensus opinion or majority decision of the task group. Finally, the IADT board members were giving their opinion and approval. The primary goal of these guidelines is to delineate an approach for the immediate or urgent care for management of primary teeth injuries. The IADT cannot and does not guarantee favorable outcomes from strict adherence to the guidelines, but believe that their application can maximize the chances of a positive outcome. The Hebrew Edition is part of the IADT global effort to provide a worldwide accessibility to these guidelines. This third part will discuss injuries in the primary dentition.


Assuntos
Traumatismos Dentários/terapia , Dente Decíduo/lesões , Tratamento de Emergência/métodos , Humanos , Israel , Idioma , Traumatismos Dentários/diagnóstico
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