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1.
J Craniofac Surg ; 30(6): 1740-1744, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31403506

RESUMO

The Craniofacial Collaboration United Kingdom (CC-UK) was established across the 4 Highly Specialized Craniofacial Centres (HSCCs) in the UK in 2015. This is the first wave of data to be analyzed, looking at 3-year-old children with sagittal synostosis who have had primary corrective surgery. This is a comprehensive, homogenous dataset, looking at parental measures of development and behavior. The results indicate that the majority of children are rated by their parents as falling within one standard deviation of the mean for both developmental and behavioral measures. However, there was a trend across the age groups within the sample which, although not statistically significant, indicates that more developmental difficulties may become apparent as children get older. Behavior was rated as more problematic, and the areas of greatest parental concern were Conduct (challenging or confrontational behavior) and Hyperactivity domains, where 24% of children were rated as within the clinically significant range. Although the majority of children were rated as falling within the average range, the difference in the mean between the sagittal and the normative group was significant in 5 of the 6 behavioral domains. Further research is required to examine whether these findings are stable over time and to look at the mechanism which might be driving these changes. It is anticipated that future CC-UK analysis will elucidate this more clearly.


Assuntos
Craniossinostoses/cirurgia , Pré-Escolar , Ossos Faciais , Humanos
2.
J Craniofac Surg ; 30(1): 83-86, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30444782

RESUMO

The clinical psychologists at the 4 highly specialized craniofacial centers in the United Kingdom have developed a systematic, developmental screening protocol, called the Craniofacial Collaboration UK (CC-UK). Previous systematic reviews of the literature into the developmental sequelae of single-suture craniosynostosis have identified a number of methodological flaws which the CC-UK seeks to avoid. This study presents an introduction to the rationale for its development, as well as the methodology of the CC-UK.


Assuntos
Craniossinostoses/diagnóstico , Craniossinostoses/cirurgia , Protocolos Clínicos , Humanos , Programas de Rastreamento , Reino Unido
4.
Int J Syst Evol Microbiol ; 66(7): 2592-2598, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27088455

RESUMO

Myrmecridium hiemale sp. nov. was isolated from snow-covered alpine bare soil and is described as the first eurypsychrophilic species of this genus of filamentous fungi. Colony growth temperature experiments were carried out in the range 4-37 °C. Morphological characteristics and colony appearance were in accordance with characteristics typical for Myrmecridium, but M. hiemale does not grow at temperatures of 25 °C and above. Sequence analyses of the internal transcribed spacer and LSU rRNA D1/D2 regions indicated that the strain in question represents a distinct taxon within the genus Myrmecridium (Myrmecridiaceae, Sordariomycetes, Ascomycota). The type strain of M. hiemale is CBS 141017T(=JMRC 12083T). A morphological description is provided, and a key is presented for the currently known taxa of Myrmecridium, a group of interesting fungi that are either saprobes or plant endophytes.


Assuntos
Ascomicetos/classificação , Filogenia , Neve/microbiologia , Microbiologia do Solo , Ascomicetos/genética , Ascomicetos/isolamento & purificação , Áustria , DNA Fúngico/genética , DNA Ribossômico/genética , Técnicas de Tipagem Micológica , RNA Ribossômico 16S/genética , Análise de Sequência de DNA
5.
J Fungi (Basel) ; 2(2)2016 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-29376929

RESUMO

Fungal pure cultures identified with both classical morphological methods and through barcoding sequences are a basic requirement for reliable reference sequences in public databases. Improved techniques for an accelerated DNA barcode reference library construction will result in considerably improved sequence databases covering a wider taxonomic range. Fast, cheap, and reliable methods for obtaining DNA sequences from fungal isolates are, therefore, a valuable tool for the scientific community. Direct colony PCR was already successfully established for yeasts, but has not been evaluated for a wide range of anamorphic soil fungi up to now, and a direct amplification protocol for hyphomycetes without tissue pre-treatment has not been published so far. Here, we present a colony PCR technique directly from fungal hyphae without previous DNA extraction or other prior manipulation. Seven hundred eighty-eight fungal strains from 48 genera were tested with a success rate of 86%. PCR success varied considerably: DNA of fungi belonging to the genera Cladosporium, Geomyces, Fusarium, and Mortierella could be amplified with high success. DNA of soil-borne yeasts was always successfully amplified. Absidia, Mucor, Trichoderma, and Penicillium isolates had noticeably lower PCR success.

6.
EMBO J ; 28(8): 1099-110, 2009 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-19300438

RESUMO

The protein kinase Mps1 is, among others, essential for the spindle assembly checkpoint (SAC). We found that Saccharomyces cerevisiae Mps1 interacts physically with the N-terminal domain of Ndc80 (Ndc80(1-257)), a constituent of the Ndc80 kinetochore complex. Furthermore, Mps1 effectively phosphorylates Ndc80(1-257) in vitro and facilitates Ndc80 phosphorylation in vivo. Mutating 14 of the phosphorylation sites to alanine results in compromised checkpoint signalling upon nocodazole treatment of mutants. Mutating the identical sites to aspartate (to simulate constitutive phosphorylation) causes a metaphase arrest with wild-type-like bipolar kinetochore-microtubule attachment. This arrest is due to a constitutively active SAC and consequently the inviable aspartate mutant can be rescued by disrupting SAC signalling. Therefore, we conclude that a putative Mps1-dependent phosphorylation of Ndc80 is important for SAC activation at kinetochores.


Assuntos
Ciclo Celular/fisiologia , Proteínas Nucleares/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Proteínas Tirosina Quinases/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismo , Saccharomyces cerevisiae/metabolismo , Fuso Acromático/metabolismo , Alanina/metabolismo , Sequência de Aminoácidos , Animais , Ácido Aspártico/metabolismo , Aurora Quinases , Genes cdc , Peptídeos e Proteínas de Sinalização Intracelular , Cinetocoros/metabolismo , Microtúbulos/metabolismo , Dados de Sequência Molecular , Proteínas Nucleares/genética , Fosforilação , Proteínas Quinases/genética , Proteínas Quinases/metabolismo , Proteínas Serina-Treonina Quinases/genética , Proteínas Tirosina Quinases/genética , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/genética , Transdução de Sinais/fisiologia
7.
Child Neuropsychol ; 8(2): 138-43, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12638066

RESUMO

Thirty male adolescent sex offenders and 20 age-matched male adolescents completed an extensive battery of attention and executive function tests. Controls were obtained from adolescents from a socially and economically deprived background, typical of the offending group. The attention battery was based on Mirksy, Anthony, Duncan, Ahearn, and Kellam (1991) and the executive function battery on Kelly (2000a). Successful matching for IQ was not achieved and therefore ANCOVA comparisons were made between the groups, with IQ as the covariate. In attention a highly significant difference was found on the focus-execute factor and a significant difference on the shift factor. In executive function there was a highly significant difference only on the response speed factor. In all cases better abilities were demonstrated by the control group. The importance of thorough neuropsychological investigation in the clinical assessment of this forensic group is supported. The clinical implications of neuropsychological deficits in terms of risk assessment and clinical management are discussed.


Assuntos
Atenção/fisiologia , Transtornos Cognitivos/epidemiologia , Delinquência Juvenil/estatística & dados numéricos , Adolescente , Criança , Transtornos Cognitivos/diagnóstico , Humanos , Masculino , Testes Neuropsicológicos , Índice de Gravidade de Doença
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