BACKGROUND The ichthyoses are rare genetic disorders associated with generalized scaling, erythema, and epidermal barrier impairment. Pathogenesis-based therapy is largely lacking because the underlying molecular basis is poorly understood. OBJECTIVE We sought to characterize molecularly cutaneous inflammation and its correlation with clinical and barrier characteristics. METHODS We analyze...

 Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...

Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...

Mr. John B. Adams, VA; Dr. L. Garry Adams, TX; Dr. Bruce L. Akey, NY; Dr. Robert D. Angus, ID; Dr. Joan M. Arnoldi, WI; Dr. Daniel R. Baca, TX; Dr. Lowell R. Barnes, IN; Dr. Terry L. Beals, OK; Dr. Carole A. Bolin, MI; Dr. Richard E. Breitmeyer, CA; Dr. Charles E. Brown, II, WI; Dr. John R. Clifford, DC; Dr. Thomas F. Conner, OH; Dr. Robert A. Cook, NY; Mr. Ed Corrigan, WI; Ms. Karen Cowan, NM;...

Taking an information ecology perspective, we have traced the process of evolution of a technology innovation in an after-school program KLICK. KLICK is an acronym for Kids Learning In Computer Klubhouses and is a 21st Century Community Learning Centers grant awarded for groundbreaking ideas and innovative technology applications in an attempt to eliminate the digital divide for lower income ur...

Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later transforming into severe lamellar or erythrodermic ichthyosis. However, in a minority of cases the skin condition will improve spontaneously after birth, although slight scaling, xerosis, hypohidrosis and keratoderma usually persist. Some of these patients will eventually b...

NETH J CRIT CARE VOLUME 14 NO 1 FEBRUARY 2010 8 Whereas intensivists are traditionally concerned about issues such as mechanical ventilation and haemodynamics, recently other topics have gained interest, including quality of life after Intensive Care Unit (ICU) admission and delirium. Delirium is a disturbance of consciousness with cognitive changes or perceptual disturbances which develops ove...

Background. Little is known about the diagnostic accuracy of global LV function assessment by electromechanical endocardial mapping (EEM). The aim of the present study was to determine the relationship between global left ventricular (LV) function measured by EEM and biplane left ventricular contrast angiography (LVA) after ST-elevation myocardial infarction (STEMI).Methods. Thirty-seven patien...

LEKTI is a 15-domain serine proteinase inhibitor whose defective expression underlies the severe autosomal recessive ichthyosiform skin disease, Netherton syndrome. Here, we show that LEKTI is produced as a precursor rapidly cleaved by furin, generating a variety of single or multidomain LEKTI fragments secreted in cultured keratinocytes and in the epidermis. The identity of these biological fr...

Netherton syndrome (NS) is a severe genetic skin disease with constant atopic manifestations that is caused by mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI). Lack of LEKTI causes stratum corneum detachment secondary to epidermal proteases hyperactivity. This skin barrier defect fa...