Laryngeal anatomical variants and their impact on the diagnosis of mechanical asphyxias by neck pressure.

The aims of this investigation were to determine the characteristics and prevalence of anatomical variants of the larynx apparatus and to evaluate the impact of these variants on the accurate diagnosis of laryngeal fractures. A population-based study was carried out, analyzing a series of 207 consecutive autopsied cases in the Institute of Legal Medicine of Galicia (Northwestern Spain). The prevalence of triticeal cartilage was 52.

Preserved brains from the Spanish Civil War mass grave (1936) at La Pedraja1, Burgos, Spain.

During the excavation of the Spanish Civil War mass grave at La Pedraja (Burgos, Spain), 104 individuals were found interred within it, 45 of which displayed brains that were preserved but dehydrated and reduced in size. This exceptional finding has resulted in the formation of a multidisciplinary team, with the aim of obtaining as much information as possible and to primarily understand the taphonomic phenomena that has led to the preservation of these brains. The following types of analyses were undertaken on three of these brains: macroscopy, histology, radiology, chemical-toxicology, genetics, chemical analysis of the soil and 3D modelling for stereolithography.

Glucocorticoid receptor is required for skin barrier competence.

To investigate the contribution of the glucocorticoid receptor (GR) in skin development and the mechanisms underlying this function, we have analyzed two mouse models in which GR has been functionally inactivated: the knockout GR(-/-) mice and the dimerization mutant GR(dim/dim) that mediates defective DNA binding-dependent transcription. Because GR null mice die perinatally, we evaluated skin architecture of late embryos by histological, immunohistochemical, and electron microscopy studies. Loss of function of GR resulted in incomplete epidermal stratification with dramatically abnormal differentiation of GR(-/-), but not GR(+/-) embryos, as demonstrated by the lack of loricrin, filaggrin, and involucrin markers.

Deregulated activity of Akt in epithelial basal cells induces spontaneous tumors and heightened sensitivity to skin carcinogenesis.

Aberrant activation of the phosphoinositide-3-kinase (PI3K)/PTEN/Akt pathway, leading to increased proliferation and decreased apoptosis, has been implicated in several human pathologies including cancer. Our previous data have shown that Akt-mediated signaling is an essential mediator in the mouse skin carcinogenesis system during both the tumor promotion and progression stages. In addition, overexpression of Akt is also able to transform keratinocytes through transcriptional and posttranscriptional processes.

Constitutively active Akt induces ectodermal defects and impaired bone morphogenetic protein signaling.

Aberrant activation of the Akt pathway has been implicated in several human pathologies including cancer. However, current knowledge on the involvement of Akt signaling in development is limited. Previous data have suggested that Akt-mediated signaling may be an essential mediator of epidermal homeostasis through cell autonomous and noncell autonomous mechanisms.

Ectoderm-targeted overexpression of the glucocorticoid receptor induces hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia is a human syndrome defined by maldevelopment of one or more ectodermal-derived tissues, including the epidermis and cutaneous appendices, teeth, and exocrine glands. The molecular bases of this pathology converge in a dysfunction of the transcription factor nuclear factor of the kappa-enhancer in B cells (NF-kappaB), which is essential to epithelial homeostasis and development. A number of mouse models bearing disruptions in NF-kappaB signaling have been reported to manifest defects in ectodermal derivatives.

Disruption of eyelid and cornea development by targeted overexpression of the glucocorticoid receptor.

Glucocorticoid hormones act through the glucocorticoid receptor (GR) and they affect almost all physiological systems in the organism. We have previously reported that transgenic mice overexpressing GR under the control of the keratin k5 promoter (K5-GR mice) display severe phenotypic alterations in the epidermis and other ectoderm derivatives (Perez et al., 2001).