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1.
PLoS One ; 18(12): e0295851, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38153936

RESUMO

Multiocular defect has been described in different canine breeds, including the Old English Sheepdog. Affected dogs typically present with multiple and various ocular abnormalities. We carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with hereditary cataracts at the age of five and then referred to a board-certified veterinary ophthalmologist due to owner-reported visual deterioration. An ophthalmic assessment revealed that there was bilateral vitreal degeneration, macrophthalmos, and spherophakia in addition to cataracts. Follow-up consultations revealed cataract progression, retinal detachment, uveitis and secondary glaucoma. Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three control dogs without evidence of inherited eye disease). Only one of the twenty-two variants segregated correctly with multiocular defect. The variant is a single nucleotide substitution, located in the collagen-type gene COL11A1, c.1775T>C, that causes an amino acid change, p.Phe1592Ser. Genotyping of an additional 14 Old English Sheepdogs affected by multiocular defect revealed a dominant mode of inheritance with four cases heterozygous for the variant. Further genotyping of hereditary cataract-affected Old English Sheepdogs revealed segregation of the variant in eight out of nine dogs. In humans, variants in the COL11A1 gene are associated with Stickler syndrome type II, also dominantly inherited.


Assuntos
Catarata , Doenças do Tecido Conjuntivo , Descolamento Retiniano , Humanos , Cães , Animais , Mutação , Descolamento Retiniano/genética , Descolamento Retiniano/veterinária , Descolamento Retiniano/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Catarata/genética , Catarata/veterinária , Catarata/complicações , Colágeno Tipo XI/genética , Linhagem
2.
J Learn Disabil ; 56(6): 423-439, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36017540

RESUMO

Traditional static tests of reading and reading-related skills offer some ability to predict future reading performance, though such screeners may misclassify children with or at risk of reading disorder (RD). Dynamic assessment (DA) is an alternative approach that measures learning potential and may be less dependent on learning background. A systematic review was carried out to examine the ability of DA to classify children with or at risk of RD. A database search yielded 14 eligible articles assessing DA of decoding, phonological awareness (PA), and working memory (WM). Results suggest that DA explains unique variance in the prediction of later RD status, and although models with a single dynamic predictor sometimes achieved good classification accuracy, this was enhanced somewhat by the addition of static predictors. Higher classification accuracy was found for DA targeting constructs more proximal to reading, particularly decoding, but the predictive power of DA of decoding and PA appeared to wane with increasing age as static measures explained more variance in outcomes. Some evidence emerged that DA provides benefits over static tests for the prediction of RD in bilingual students, though no studies examined outcomes by administration format or orthographic depth. Limitations and suggestions for future work are discussed.


Assuntos
Dislexia , Criança , Humanos , Dislexia/diagnóstico , Aprendizagem , Conscientização , Estudantes , Memória de Curto Prazo , Fonética
3.
J Child Lang ; : 1-22, 2022 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-35351220

RESUMO

Children learning English as an additional language (EAL) are a diverse and growing group of pupils in England's schools. Relative to their monolingual (ML) peers, these children tend to show lower receptive and expressive vocabulary knowledge in English, although interpretation of findings is limited by small and heterogeneous samples. In an effort to increase representativeness and power, the present study combined published and unpublished datasets from six cross-sectional and four longitudinal studies investigating the vocabulary development of 434 EAL learners and 342 ML peers (age range: 4;9-11;5) in 42 primary schools. Multilevel modelling confirmed previous findings of significantly lower English vocabulary scores of EAL learners and some degree of convergence in receptive but not expressive knowledge by the end of primary school. Evidence for narrowing of the gap in receptive knowledge was found only in datasets spanning a longer developmental period, hinting at the protracted nature of this convergence.

5.
Sci Am ; 319(2): 64-67, 2018 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-30020908
6.
Vet Rec ; 181(13): 346, 2017 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-28870975

RESUMO

In July 2016 we described the first known case of canine ocular thelaziosis in the UK in a dog recently imported from Romania. Here we confirm our initial diagnosis using PCR followed by sequence analysis, and we report a further two clinical cases in dogs with recent history of travel to Italy and France. In view of the presence in the UK of the vector for Thelazia callipaeda, namely Phortica spp, we discuss the significance of these three cases in the context of the UK government's pet travel scheme, disease control and both animal and public health in the UK.


Assuntos
Doenças do Cão/epidemiologia , Oftalmopatias/veterinária , Infecções por Spirurida/veterinária , Animais , Doenças do Cão/parasitologia , Cães , Oftalmopatias/epidemiologia , Oftalmopatias/parasitologia , Feminino , Masculino , Reino Unido/epidemiologia
8.
J Hosp Mark Public Relations ; 20(2): 116-30, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20582851

RESUMO

Health care disparities in rural areas remain significant in the U.S. health care industry. Uncompensated care makes health care disparities in rural areas worse, and rural hospitals are unfavorably positioned to compete with urban hospitals in the economic-downturn marketplace. How uncompensated care affects quality care among rural hospitals has been lightly investigated. Given that many rural residents experience difficulty accessing high quality care and given the importance of establishing quality care practice standards in a rural setting, we conducted a systematic literature review to identify some quality-care barriers and opportunities and suggested strategies to strengthen the position of rural hospitals in response to uncompensated care.


Assuntos
Administração Financeira de Hospitais , Hospitais Rurais , Qualidade da Assistência à Saúde , Cuidados de Saúde não Remunerados , Instituições de Assistência Ambulatorial/economia , Certificado de Necessidades/economia , Competição Econômica , Hospitais Rurais/economia , Humanos , Modelos Teóricos , Telemedicina/economia , Estados Unidos
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