Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified apparent recurrent breakage sites in the proximal and distal breakpoint regions. Two of the four patients displayed more complex rearrangements. Patient 2 was endowed with a quadruplicated segment and a small triplication within the duplication, whereas patient 3 displayed two triplicated segments within the duplication, supporting that the Fork Stalling and Template Switching (FoSTeS) model may explain a subset of the structural rearrangements in Xq28. Clinically, muscular hypertonia and contractures of large joints may present a major problem in children with MRXSL. Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures.

Noise Exposure of Teachers in Nursery Schools-Evaluation of Measures for Noise Reduction When Dropping DUPLO Toy Bricks into Storage Cases by Sound Analyses.

BACKGROUND: Although noise is one of the leading work-related health risk factors for teachers, many nursery schools lack sufficient noise reduction measures. METHODS: This intervention study evaluated the noise exposure of nursery school teachers when dropping DUPLO toy bricks into storage cases. Sound analyses of the impact included assessment of the maximum sound pressure level (LAFmax) as well as frequency analyses with 1/3 octave band filter. For the purpose of standardization, a customized gadget was developed. Recordings were performed in 11 cases of different materials and designs to assess the impact on sound level reduction. Thereby, the acoustic effects of three damping materials (foam rubber, carpet, and PU-foam) were investigated. RESULTS: The lowest LAFmax was measured in cases consisting of "metal grid" (90.71 dB) or of a woven willow "basket" (91.61 dB), whereas a case of "aluminium" (103.34 dB) generated the highest impact LAFmax. The frequency analyses determined especially low LAFmax in the frequency bands between 80 and 2500 Hz in cases designs "metal grid" and "basket". The insertion of PU-foam achieved the most significant attenuation of LAFmax (-13.88 dB) and, in the frequency analyses, the best sound damping. CONCLUSION: The dropping of DUPLO bricks in cases contributes to the high noise level in nursery schools, but measured LAFmax show no evidence for the danger of acute hearing loss. However, continuous exposure may lead to functional impairment of the hair cells and trigger stress reactions. We recommend noise reduction by utilizing cases of woven "basket" with an insert of PU-foam.

Matrix matters: differences of grand skink metapopulation parameters in native tussock grasslands and exotic pasture grasslands.

Modelling metapopulation dynamics is a potentially very powerful tool for conservation biologists. In recent years, scientists have broadened the range of variables incorporated into metapopulation modelling from using almost exclusively habitat patch size and isolation, to the inclusion of attributes of the matrix and habitat patch quality. We investigated the influence of habitat patch and matrix characteristics on the metapopulation parameters of a highly endangered lizard species, the New Zealand endemic grand skink (Oligosoma grande) taking into account incomplete detectability. The predictive ability of the developed zxmetapopulation model was assessed through cross-validation of the data and with an independent data-set. Grand skinks occur on scattered rock-outcrops surrounded by indigenous tussock (bunch) and pasture grasslands therefore implying a metapopulation structure. We found that the type of matrix surrounding the habitat patch was equally as important as the size of habitat patch for estimating occupancy, colonisation and extinction probabilities. Additionally, the type of matrix was more important than the physical distance between habitat patches for colonisation probabilities. Detection probability differed between habitat patches in the two matrix types and between habitat patches with different attributes such as habitat patch composition and abundance of vegetation on the outcrop. The developed metapopulation models can now be used for management decisions on area protection, monitoring, and the selection of translocation sites for the grand skink. Our study showed that it is important to incorporate not only habitat patch size and distance between habitat patches, but also those matrix type and habitat patch attributes which are vital in the ecology of the target species.

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life and having an own family.