Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Más filtros











Base de datos
Intervalo de año de publicación
1.
Genes (Basel) ; 14(10)2023 09 22.
Artículo en Inglés | MEDLINE | ID: mdl-37895184

RESUMEN

Epidermolysis bullosa (EB), characterized by defective adhesion of the epidermis to the dermis, is a heterogeneous disease with many subtypes in human patients and domestic animals. We investigated two unrelated cats with recurring erosions and ulcers on ear pinnae, oral mucosa, and paw pads that were suggestive of EB. Histopathology confirmed the diagnosis of EB in both cats. Case 1 was severe and had to be euthanized at 5 months of age. Case 2 had a milder course and was alive at 11 years of age at the time of writing. Whole genome sequencing of both affected cats revealed independent homozygous variants in COL17A1 encoding the collagen type XVII alpha 1 chain. Loss of function variants in COL17A1 lead to junctional epidermolysis bullosa (JEB) in human patients. The identified splice site variant in case 1, c.3019+1del, was predicted to lead to a complete deficiency in collagen type XVII. Case 2 had a splice region variant, c.769+5G>A. Assessment of the functional impact of this variant on the transcript level demonstrated partial aberrant splicing with residual expression of wildtype transcript. Thus, the molecular analyses provided a plausible explanation of the difference in clinical severity between the two cases and allowed the refinement of the diagnosis in the affected cats to JEB. This study highlights the complexity of EB in animals and contributes to a better understanding of the genotype-phenotype correlation in COL17A1-related JEB.


Asunto(s)
Epidermólisis Ampollosa de la Unión , Humanos , Gatos/genética , Animales , Epidermólisis Ampollosa de la Unión/genética , Epidermólisis Ampollosa de la Unión/veterinaria , Colágenos no Fibrilares/genética , Colágenos no Fibrilares/metabolismo , Autoantígenos/genética , Piel/metabolismo , Colágeno Tipo XVII
2.
J Am Anim Hosp Assoc ; 54(6): 297-326, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30376377

RESUMEN

A veterinary team's best work can be undone by a breach in infection control, prevention, and biosecurity (ICPB). Such a breach, in the practice or home-care setting, can lead to medical, social, and financial impacts on patients, clients, and staff, as well as damage the reputation of the hospital. To mitigate these negative outcomes, the AAHA ICPB Guidelines Task Force believes that hospital teams should improve upon their current efforts by limiting pathogen exposure from entering or being transmitted throughout the hospital population and using surveillance methods to detect any new entry of a pathogen into the practice. To support these recommendations, these practice-oriented guidelines include step-by-step instructions to upgrade ICPB efforts in any hospital, including recommendations on the following: establishing an infection control practitioner to coordinate and implement the ICPB program; developing evidence-based standard operating procedures related to tasks performed frequently by the veterinary team (hand hygiene, cleaning and disinfection, phone triage, etc.); assessing the facility's ICPB strengths and areas of improvement; creating a staff education and training plan; cataloging client education material specific for use in the practice; implementing a surveillance program; and maintaining a compliance evaluation program. Practices with few or no ICPB protocols should be encouraged to take small steps. Creating visible evidence that these protocols are consistently implemented within the hospital will invariably strengthen the loyalties of clients to the hospital as well as deepen the pride the staff have in their roles, both of which are the basis of successful veterinary practice.


Asunto(s)
Control de Infecciones/métodos , Medicina Veterinaria , Animales , Humanos , Control de Infecciones/organización & administración , Control de Infecciones/normas , Medidas de Seguridad
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA