Objectives. The aim of this study was to analyse the rate of major adverse clinical events in patients with coronary artery disease and a fractional flow reserve (FFR) of ≥0.75 and deferred for coronary intervention in daily practice. Methods. From 1 January to 31 December 2006, FFR measurement was initiated in 122 patients (5%) out of 2444 patients referred for coronary angiography. In two pat...

Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 encoding the LEKTI serine protease inhibitor. LEKTI deficiency results in unopposed activities of kal...

Black defendants are assigned systematically greater bail levels than whites accused of similar offenses and, partly as a result, have systematically lower probabilities of pre-trial release. We construct a simple model of optimal bail setting that allows us to measure how much of the bail difference is due to judicial bias against blacks, holding constant defendant heterogeneity that judges ob...

Background: Rapid Response Systems (RRSs) have been introduced in hospitals to improve recognition of and response to deteriorating hospital ward patients. The value of an RRS depends not only on relevant patient outcomes but also on how satisfied nurses and physicians are with the system. The aim of the study was to measure the degree of satisfaction with an RRS and analyse factors influencing...

INTRODUCTION Ichthyosis is a group of keratinizing diseases characterized by scaly and dry skin. One of the ocular complications associated with ichthyosis is cicatricial ectropion which often results in exposure keratopathy and eventually corneal scarring. PRESENTATION OF CASE In this report we are presenting a 21-year-old female who is known to have ichthyosis-related bilateral lower lid ci...

Epidermal hydration is maintained mainly by the retention of water in stratum corneum through natural moisturizing factor (NMF). NMF a complex mixture components, including pyrrolidone carboxylic acid (PCA) and urocanic (UCA), two amino derivatives. In corneum, breakdown filaggrin (FLG) main source PCA UCA. The proteases involved this degradation are still incompletely known. keratosis linearis...

Ichthyosis is a broad and loosely defined group of hereditary and acquired disorders characterized by filaggrin dysfunction and impaired epidermal homeostasis that results in dry, scaly and thickened skin. Individuals with truncation mutations in the profilaggrin gene coding for filaggrin are strongly predisposed to severe forms of ichthyosis. The phenotypical expression of ichthyosis caused by...

We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis. Transglutaminase activity measured in membrane extracts from cultured differentiating keratinocytes was within the range observed in normal individuals. Western blot and Northern blot analysis revealed normal size and ...

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is an ultra-rare autosomal recessive genodermatosis. Clinical manifestations include linear hyperkeratotic papules in the flexures, palmoplantar pseudoainhum. To date, all affected individuals carry a homozygous mutation, c.-95delC POMP, which encodes for proteasome maturation protein. Disease pathophysiolo...

Autosomal recessive congenital ichthyosis (ARCI) includes a wide range of ichthyosis phenotypes, including harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and self-improving collodion ichthyosis (SICI) (1, 2). To date, 9 causative genes for ARCI have been identified (1, 2). ALOXE3 is a causative gene in LI as well as CIE, and it encodes the eLOX-3 li...