Heredit?re Fiebersyndrome

Familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), and tumour necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) are monogenic disorders included under the term??hereditary fever syndromes??. These diseases are characterized by recurrent episodes of fever and inflammation and arise from mutations of genes regulating the innate immune system. The present review describes the clinical and genetic spectrum of hereditary fever syndromes, which are of importance for genetic counseling.     

Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

Kohlschütter-Tönz syndrome is a rare genetic disorder with neurologic symptoms – epilepsy and severe developmental delay – and defective enamel leading to yellow or brownish discoloration of teeth. The first family was described in 1974, all affected patients were male. In the meantime, families with both male and female patients were identified as well. Inheritance is thus most probably autosomal recessive; genetic heterogeneity can however not be ruled out. Clinical course and disease severity may differ even within one family. As the genetic basis has not yet been elucidated, diagnosis must be made on clinical grounds. We report three new children with Kohlschütter-Tönz syndrome in comparison to the 21 hitherto published cases.     

Differences in marker expression among branched histiocytic cells in T-cell areas of the lymphoreticular system and among their epidermis- and mucosa-associated equivalents

Summary Branched histiocytic cells of the epidermis, the oral and anal mucosa, the tonsillar crypt epithelium, the thymus and of the T-cell-dependent areas of lymph node, spleen, and tonsil were examined with immunohistochemical single- and double-staining techniques. The markers used were a monoclonal anti-T6-antibody, a monoclonal anti-HLA-DR-antibody, heteroantiserum to S-100 protein and peanut agglutinin. Anti-HLA-DR and peanut agglutinin reacted with a considerable number of branched histiocytic cells, whereas anti-T6 and anti-S-100 protein only stained relatively small subpopulations. Concerning the population of branched histiocytic cells, double-staining revealed that the tissue distributions of all the markers used overlapped each other to various degrees; this was demonstrated by the different numbers of double-stained cells obtained in the experiments using all six possible combinations of primary reagents. The number of branched histiocytic cells co-expressing the markers varied depending upon marker combinations, types of tissue and microenvironment. We suggest that much of the immunologic phenotype of branched histiocytic cells is dynamic rather than static.Abbreviations used BHCs branched histiocytic cells - anti-T6 monoclonal antibody to T6 antigen - anti-HLA-DR monoclonal antibody to HLA-DR - anti-S-100p antiserum to S-100 protein - (anti-)PNA (anti-)peanut agglutinin - GAM goat anti-mouse IgG - RAM rabbit anti-mouse IgG - GAR-AP alkaline phosphatase-conjugated goat anti-rabbit Ig - SAR porcine anti-rabbit Ig - PAP peroxidase-anti-peroxidase complex - APAAP alkaline phosphataseanti-alkaline phosphatase complex - iAP indirect alkaline phosphatase - AEC 3-amino-9-ethylcarbazole - FB fast blue BB salt - levamisole L[-]2,3,5,6-tetrahydro-6-phenylimidazo[2,1-b]thiazole - DMF NN-dimethylformamide - PBS phosphate-buffered saline solution - + positive reaction of a cell with a resp. marker - – negative reaction of a cell with a resp. marker This work was supported by the German Research Foundation (DFG: Mo.384/1-2)     

Structural changes and relaxations monitored by luminescence

Luminescence data have often been used to study imperfections and to characterize lattice distortions because the signals are sensitive to changes of structure and composition. Previous studies have included intentionally added probe ions such as rare earth ions to sense distortions in local crystal fields caused by modified structural environments. An under‐exploited extension of this approach was to use luminescence to monitor crystalline phase changes. A current overview of this new and powerful technique shows that continuous scanning of the sample temperatures immediately offered at least three types of signatures for phase transitions. Because of high sensitivity, luminescence signals were equally responsive to structural changes from inclusions and nanoparticles. These coupled to the host material via long‐range interactions and modified the host signals. Two frequently observed examples that are normally overlooked are from nanoparticle inclusions of water and CO_2. Examples also indicated that phase transitions were detected in more diverse materials such as superconductors and fullerenes. Finally, luminescence studies have shown that in some crystalline examples, high dose ion implantation of surface layers could induce relaxations and/or structural changes of the entire underlying bulk material. This was an unexpected result and therefore such a possibility has not previously been explored. However, the implications for ion implication are significant and could be far more general than the examples mentioned here. Copyright © 2012 John Wiley & Sons, Ltd.     

Genetic variation in the diatomFragilaria capucina (Fragilariaceae) along a latitudinal gradient across North America

Genetic variation in 126 clones of the planktonic diatom,Fragilaria capucina, collected from seven lakes from Manitoba to Texas, was determined by RAPD analysis. Five primers yielded 48 scorable RAPD fragments in 123 unique combinations. Patterns of genetic variation were analysed by cluster analysis, which showed that most clones grouped together according to the site from which they were collected. This pattern in genetic variation may be a result of the geographically disjunct nature of these populations and/or the different environmental conditions, especially temperature, in the different lakes.     

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is the most frequently occurring congenital disorder with an increased fracture rate and systemic skeletal involvement. The vast majority of patients have an autosomal dominant form of OI resulting from a mutation in one of the two type I collagen genes COL1A1 or COL1A2. Since 2006, eight genes for autosomal recessive forms of the disorder have been identified, as well as one additional gene for autosomal dominant OI. Our knowledge concerning molecular pathophysiology has been substantially broadened, such that the paradigm of OI as a pure ??collagenopathy?? no longer applies and the clinical classification system will have to be revised. Standard therapy for the more severe forms of OI comprises intravenous administration of bisphosphonates. Additional elements of a multimodal therapeutic concept include surgical intervention for bone deformities or fractures and physiotherapy.