Mutations of the transglutaminase 1 gene (TGM1) are a major cause of autosomal recessive congenital ichthyoses (ARCIs) that are associated with defects in skin barrier structure and function. However, the molecular processes induced by the transglutaminase 1 deficiency are not fully understood. The aim of the present study was to uncover those processes by analysis of cutaneous molecular signat...

Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of cornification diseases associated with severe clinical complications and decreased quality life. Germline mutations in the TGM1 gene, which encodes enzyme TGM1, are predominant cause ARCI. These trigger abnormal epidermal differentiation impaired cutaneous barrier function observed patients Unfortunately, current ARCI therap...

The reason for the choice of a specific type of obsidian for tool manufacturing is generally assumed to be related to the location of the source, the appearance of the material, and/or the sociopolitical relationships that may restrict its procurement, rather than the inherent qualities of the type of obsidian. This research examines the use of Monte Arci obsidian (types SA and SC) using macros...

Resumen ADICCIONES, 2016 · VOL. 28 NO. 4 · PAGES 231-241 231 original adicciones vol. 28, no 4 · 2016 Received: September 2015; Accepted: January 2016. Send correspondence to: Josep L. Matalí. Hospital Sant Joan de Déu, c/ Santa Rosa s/n, 08950 – Esplugues de Llobregat (Barcelona), España. Telephone: +34 93 280 40 00, Fax:+34 93 600 94 54. Mail: [email protected] Internalizing and externalizi...

DEAR EDITOR, The dramatic presentation of a collodion baby is most commonly associated with a diagnosis of autosomal recessive ichthyosis (ARCI). We investigated a family wherein the father and all four children were collodion at birth, implying an autosomal dominant inheritance pattern. Postnatally, the affected individuals presented with variable degrees of generalized ichthyosis and palmopla...

A minority of human patients with non-syndromic autosomal recessive congenital ichthyosis (ARCI) display mutations in ICHTHYIN (NIPAL4). This protein is thought to play a role in epidermal lipid metabolism, although the mechanism is unknown. A mild to moderate form of ICHTHYIN associated ARCI was identified in an extended pedigree of American bulldogs. The gross phenotype was evidenced by a dis...

Congenital Ichyosis is relatively uncommon disease but is the most common cause of Collodian baby. Early diagnosis is required for immediate management and prevention of fluid-electrolyte balance as well as prevention of secondary infections. Definitive diagnosis is essential for long-term management as well as counselling to the parents of affected infant if they are considering having childre...

The subjective, psychomotor, and physiological effects of three opioid m-receptor agonists were studied in healthy volunteers using a cumulative-dosing procedure. Sixteen volunteers with no history of drug abuse received i.v. injections of saline (SAL), morphine (MOR), hydromorphone (HM), or meperidine (MEP) in a randomized double-blind crossover design. Subjects received 1 injection/h for the ...

The last two decades have seen a steady increase in the number of publications devoted to ayahuasca. This fascinating psychotropic plant tea has attracted the attention of biomedical and psychological scientists. Researchers have gathered data on the physiological impact of ayahuasca administration to humans and have assessed the consequences of long term regular use. Acute administration studi...