Long-term follow-up in patients with CCFDN syndrome.

Objective: We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome, providing new insights in the clinical course of the disease.

Methods: We performed a detailed clinical and paraclinical characterization and 10-year follow-up study in 16 patients with molecularly defined CCFDN syndrome, illustrating that CCFDN is a severe disabling disorder.

Results: All patients initially presented with congenital cataracts along with strabismus, facial dysmorphism, short stature, and demyelinating neuropathy.

The many faces of preparatory control in task switching: reviewing a decade of fMRI research.

A large body of behavioural research has used the cued task-switching paradigm to characterize the nature of trial-by-trial preparatory adjustments that enable fluent task implementation when demands on cognitive flexibility are high. This work reviews the growing number of fMRI studies on the same topic, mostly focusing on the central hypothesis that preparatory adjustments should be indicated by enhanced prefrontal and parietal BOLD activation in task switch when compared with task repeat trials under conditions that enable advance task preparation. The evaluation of this straight-forward hypothesis reveals surprisingly heterogeneous results regarding both the precise localization and the very existence of switch-related preparatory activation.

The genetic impact of the Q551R interleukin-4 receptor alpha polymorphism for aggressive or chronic periodontitis and the occurrence of periodontopathic bacteria.

Objective: The Q551R polymorphism of the gene encoded for the α chain of the interleukin-4 receptor (IL-4RA) could influence both IL-4 and IL-13 signalling. Since both cytokines could be important in the pathogenesis of periodontitis the aim of this study was to evaluate putative associations of the Q551R polymorphism to generalized aggressive or chronic periodontitis and five periodontopathogens.

Design: 154 patients with severe generalized periodontitis (chronic: n=68, mean age=48.

Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis.

Periodontitis is initiated by the subgingival occurrence of periodontopathogens. It is triggered by a specific host-dependent immune response that is influenced by genetic predisposition. Polymorphisms in the interleukin-1 (IL-1) gene cluster have been suggested to influence the pathogenesis of periodontitis.

Interferon-gamma and interleukin-12 gene polymorphisms and their relation to aggressive and chronic periodontitis and key periodontal pathogens.

Background: The gene polymorphisms interferon-gamma (IFN-gamma) 874 T/A and interleukin (IL)-12 1188 A/C have been associated with the altered production of cytokines. Therefore, they might be indicative of the occurrence of chronic periodontitis (CP) or aggressive periodontitis (AgP) and the prevalence of key periodontal pathogens. For this purpose, we analyzed these polymorphisms in subjects with generalized AgP or generalized CP.

Genetic markers of tumour necrosis factor alpha in aggressive and chronic periodontitis.

Aim: Tumour necrosis factor alpha (TNFalpha) plays an important role in the pathogenesis of periodontitis. TNFalpha production is influenced by gene polymorphisms. The aim of this study was to evaluate links between genetic variants and chronic/aggressive periodontitis in a multivariate model.