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1.
Pathogens ; 13(2)2024 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-38392850

RESUMEN

Felis catus gammaherpesvirus 1 (FcaGHV1) infects domestic cats worldwide, yet it has not been successfully propagated in cell culture, and little is known about how it is shed and transmitted. To investigate the salivary shedding of FcaGHV1, we quantified FcaGHV1 DNA in feline saliva by qPCR. For FcaGHV1-positive saliva, we sequenced a portion of the viral glycoprotein B (gB) gene and attempted to isolate the infectious virus by passage in several felid and non-felid cell lines. We detected FcaGHV1 DNA in 45/227 (19.8%) saliva samples with variable viral DNA loads from less than 100 to greater than 3 million copies/mL (median 4884 copies/mL). Multiple saliva samples collected from an infected cat over a two-month period were consistently positive, indicating that chronic shedding can occur for at least two months. Cat age, sex, and health status were not associated with shedding prevalence or viral DNA load in saliva. Feral status was also not associated with shedding prevalence. However, feral cats had significantly higher FcaGHV1 DNA load than non-feral cats. Sequencing of FcaGHV1 gB showed low sequence diversity and >99.5% nucleotide identity to the worldwide consensus FcaGHV1 gB sequence. We did not detect virus replication during the passage of FcaGHV1-positive saliva in cell culture, as indicated by consistently negative qPCR on cell lysate and supernatant. To our knowledge, these data show for the first time that cats in Canada are infected with FcaGHV1. The data further suggest that shedding of FcaGHV1 in saliva is common, can occur chronically over an extended period of time, and may occur at higher levels in feral compared to non-feral cats.

2.
Hum Mutat ; 33(3): 561-71, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22213089

RESUMEN

Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype-phenotype correlations, we evaluated the clinical and laboratory data of 51 genetically proven A-T patients, and additionally measured ATM protein expression and kinase activity. Patients without ATM kinase activity showed the classical phenotype. The presence of ATM protein, correlated with slightly better immunological function. Residual kinase activity correlated with a milder and essentially different neurological phenotype, absence of telangiectasia, normal endocrine and pulmonary function, normal immunoglobulins, significantly lower X-ray hypersensitivity in lymphocytes, and extended lifespan. In these patients, cancer occurred later in life and generally consisted of solid instead of lymphoid malignancies. The genotypes of severely affected patients generally included truncating mutations resulting in total absence of ATM kinase activity, while patients with milder phenotypes harbored at least one missense or splice site mutation resulting in expression of ATM with some kinase activity. Overall, the phenotypic manifestations in A-T show a continuous spectrum from severe classical childhood-onset A-T to a relatively mild adult-onset disorder, depending on the presence of ATM protein and kinase activity. Each patient is left with a tremendously increased cancer risk.


Asunto(s)
Ataxia Telangiectasia/metabolismo , Ataxia Telangiectasia/patología , Proteínas de Ciclo Celular/metabolismo , Proteínas de Unión al ADN/metabolismo , Proteínas Serina-Treonina Quinasas/metabolismo , Proteínas Supresoras de Tumor/metabolismo , Adolescente , Adulto , Ataxia Telangiectasia/genética , Proteínas de la Ataxia Telangiectasia Mutada , Proteínas de Ciclo Celular/genética , Niño , Proteínas de Unión al ADN/genética , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Proteínas Serina-Treonina Quinasas/genética , Proteínas Supresoras de Tumor/genética , Adulto Joven
3.
Clin Anat ; 21(7): 674-82, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18773474

RESUMEN

Pelvic external fixators have a high rate of reported complications, most of which relate to pin placement. In this descriptive study, we analyzed the morphology of the ilium in cadaveric specimens and compared these with the measures obtained from normal human pelvic computer tomograph scans, and how these related to each of the three basic configurations of pin positioning for the external fixation of a pelvis: anterosuperior (Slätis type), anteroinferior (supra-acetabular), and subcristal. The irregular shape and size of the iliac wing and the abdominal wall overlying the pin's insertion site could hinder accurate placement of anterosuperior pins. Potential disadvantages of the use of anteroinferior pins was found related to the deep location of the anterior inferior iliac spine, interference with the hip flexion area, risk of hip joint penetration, and the variable obliquity of the ilium. As subcristal pins are positioned between two superficial bony landmarks of the iliac crest, our findings suggest that they are more likely to have a correct placement and avoid complications.


Asunto(s)
Fijadores Externos , Ilion/anatomía & histología , Procedimientos Ortopédicos/instrumentación , Huesos Pélvicos/anatomía & histología , Clavos Ortopédicos , Humanos , Ilion/diagnóstico por imagen , Ilion/cirugía , Procedimientos Ortopédicos/métodos , Huesos Pélvicos/diagnóstico por imagen , Huesos Pélvicos/cirugía , Tomografía Computarizada por Rayos X
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