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3.
Wound Repair Regen ; 21(2): 329-34, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23438022

RESUMEN

Because wound exudate includes secreted proteins that affect wound healing, its biochemical analysis is useful for objective assessment of chronic wounds. Wound blotting allows for collection of fresh exudate by attaching a nitrocellulose membrane onto the wound surface. To determine its applicability for several analysis methods and its executability in clinical wound assessment, this study comprised an animal experiment and clinical case reports. In the animal experiment, full-thickness wounds were created on the dorsal skin of mice, and exudate samples were collected daily by a conventional method and by wound blotting. Extremely small but adequate volumes of exudate were collected by wound blotting for subsequent analysis in the animal experiments. Immunostaining showed the concentration and distribution of tumor necrosis factor (TNF) α. The activity of alkaline phosphatase was visualized by reaction with chemiluminescent substrate. The TNF distribution analysis indicated three different patterns: wound edge distribution, wound bed distribution, and a mostly negative pattern in both the animal and clinical studies, suggesting association between the TNF distribution pattern and wound healing. Our results indicate that wound blotting is a convenient method for biochemical analysis of exudate and a candidate tool with which to predict the healing/deterioration of chronic ulcers.


Asunto(s)
Colodión/uso terapéutico , Exudados y Transudados/metabolismo , Úlcera por Presión/metabolismo , Piel/patología , Adhesivos Tisulares/uso terapéutico , Factor de Necrosis Tumoral alfa/metabolismo , Cicatrización de Heridas , Almohadillas Absorbentes , Anciano , Anciano de 80 o más Años , Animales , Vendajes , Biomarcadores/metabolismo , Western Blotting , Exudados y Transudados/inmunología , Femenino , Humanos , Masculino , Ratones , Ratones Obesos , Úlcera por Presión/inmunología , Úlcera por Presión/terapia , Estudios Retrospectivos , Piel/inmunología , Piel/metabolismo
4.
Am J Med Genet A ; 152A(4): 950-3, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20358607

RESUMEN

The concept of the Down syndrome critical region implies the existence of several dosage-sensitive genes that result in an abnormal phenotype when duplicated. Among the genes in the presumed Down syndrome critical region, DYRK1A and SIM2 are thought to be particularly important because of their critical roles in the development of the central nervous system in model organisms. Considering that regulatory imbalances resulting in an altered amount of expression from crucial target genes tend to produce phenotypic effects in both monosomics and trisomics, haploinsufficiency for the Down syndrome critical region is expected to be associated with an abnormal phenotype. We report on a patient with severe microcephaly, a developmental delay, hypospadias, and corneal opacity who had a microdeletion spanning the Down syndrome critical region, including DYRK1A and SIM2. He presented with intrauterine growth retardation, hypospadias, corneal clouding, arched eyebrows, upslanting and narrow palpebral fissures, bifid uvula, prominent nasal root, short columella, prominent central incisors, pegged shaped teeth, retrognathia, hypoplastic nipples, and severe developmental delay. His G-banded karyotype was normal, but array comparative genomic hybridization showed a de novo deletion of 3.97 Mb at chromosome 21q22. The extreme degree of microcephaly in this patient may be ascribed to the haploinsufficiency of DYRK1A, since brain size is severely reduced in heterozygotes for the Dyrk1a null mutation in mice.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 21/genética , Síndrome de Down/genética , Niño , Preescolar , Hibridación Genómica Comparativa , Facies , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Masculino , Embarazo , Reproducibilidad de los Resultados
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