A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

X-linked inhibitor of apoptosis (XIAP) deficiency, caused by mutations in BIRC4, is an immunodeficiency associated with immune dysregulation and a highly variable clinical presentation. Current diagnostic screening tests such as flow cytometry for XIAP expression or lymphocyte apoptosis assays have significant limitations. Based on recent evidence that XIAP is essential for nucleotide-binding and oligomerization domains (NOD)1/2 signalling, we evaluated the use of a simple flow cytometric assay assessing tumour necrosis factor (TNF) production of monocytes in response to NOD2 stimulation by muramyl dipeptides (L18-MDP) for the functional diagnosis of XIAP deficiency.

XIAP variants in male Crohn's disease.

Objective: The genetic basis of inflammatory bowel disease (IBD) is incompletely understood. The aim of this study was to identify rare genetic variants involved in the pathogenesis of IBD.

Design: Exome sequencing and immunological profiling were performed in a patient with early onset Crohn's disease (CD).

Personality subtypes of young moped drivers, their relationship to risk-taking behavior and involvement in road crashes in an Austrian sample.

Objective: This study aimed to identify subtypes of young moped drivers and analyze how these subtypes are involved in risk preferences and road crashes.

Design: A group of Austrian teenage moped drivers (213, 28% girls) completed an online questionnaire about moped usage, injuries, driving style, inattention, impulsivity, and personality according to the Five-Factor Model of Personality and Cloninger's model of personality.

Results: A cluster analysis yielded four types of moped drivers.

In vitro color stability of provisional restorations.

A provisional restoration must protect the prepared tooth, provide comfort and function and be esthetically acceptable and color stable. This study measured the degree of color change of provisional restorations. Five commercially available resins were evaluated: Trim, Tab, Kind, Snap and Duralay.

Glass-ionomer cements in dental practice: a national survey.

Certain characteristics of glass-ionomer cements would appear to make them desirable dental materials; however, many practitioners are reluctant to use them because of reports of postoperative sensitivity. The members of the Academy of Operative Dentistry were surveyed in order to assess quantitatively and qualitatively the use of glass-ionomer cements in their practices, as well as the incidence and nature of postoperative sensitivity. The following data were collected: 1) the past and present use of glass-ionomer cements, 2) reasons for disuse of glass-ionomer cements, 3) products which are or have been used, and 4) the incidence of and resolution of postoperative sensitivity.