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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

Background: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly

Lifetime of the isomeric O-2(+) state in Be-12

Mean lifetime tau of the isomeric O-2(+) state in Be-12 has been determined by measuring decay spectra of delayed y-rays from stopped Be-12 2 nuclei produced by the projectile fragmentation of O-18 at 100 A MeV. A consistent value of tau = 331 +/- 12 ns was obtained from the time spectra of the E2 gamma decay to the 2(1)(+) state and the positron annihilation following the E0 decay to the ground s

Brain lesion contrast in MR imaging. Dependence on field strength and concentration of gadodiamide injection in patients and phantoms

PURPOSE: To compare the contrast effects of gadodiamide injection at 0.3 and at 1.5 T, at different concentrations in phantoms, and to correlate the results to clinical doses used for examining brain lesions. MATERIAL AND METHODS: Gel phantoms with T1 and T2 corresponding to brain gray matter were doped with different concentrations of gadodiamide injection and examined with T1-weighted sequences.

Ectomycorrhizal colonisation of roots and ash granules in a spruce forest treated with granulated wood ash

Granulated wood ash has been proposed as a slow release fertiliser suitable for forest soils. In this study ectomycorrhizal colonisation of roots and ash granules was studied in a 40-year-old spruce forest treated with 0, 3 or 6 t ha(-1) granulated wood ash. We used PCR-RFLP methods for ITS-typing and identification of ectomycorrhizal fungi. In total 20 different ITS-types were recognised on roots

Structure and mobility in water plasticized poly(ethylene oxide)

The change in structure and mobility of poly(ethylene oxide) (PEO) containing 2 wt% of fumed silica and the water self-diffusion coefficient in concentrated PEO-water systems have been investigated at room temperature in the water weight fraction, w(w) range 0-0.50 w/w. Pulsed field gradient nuclear magnetic resonance was used to measure the self-diffusion coefficients. Structure and mobility prop

Formation mechanism of mesoporous silica formed with triblock copolymers; effect of salt addition

SBA-15 was synthesised with Pluronic P104 ((EO)(27)-(PO)(61)-(EO)(27))) its Structure promoter at 45 degrees C, with and without NaCl (1.0 M) added to the Synthesis Mixture. TEOS (tetraethyl orthosilicate) was used as silica source. The formation process was studied by in-situ SAXS/SAXD using synchrotron light. Addition of salt affects the micellar size, initial cell-parameter of the 2-D hexagonal

Convergence of implicit finite difference methods applied to nonlinear mixed systems

A new technique to prove convergence of finite difference methods applied to nonlinear PDEs arising in computational fluid dynamics is presented. The underlying systems may be hyperbolic, parabolic or of mixed type like the Navier-Stokes equations. Implicit finite difference methods are analyzed. The essential idea leading to success is the introduction of a pilot function that is highly attractiv

Ecosystem service supply and vulnerability to global change in Europe

Global change will alter the supply of ecosystem services that are vital for human well-being. To investigate ecosystem service supply during the 21st century, we used a range of ecosystem models and scenarios of climate and land-use change to conduct a Europe-wide assessment. Large changes in climate and land use typically resulted in large changes in ecosystem service supply. Some of these trend

Major gentler differences in the lipolytic capacity of abdominal subcutaneous fat cells in obesity observed before and after long-term weight reduction

The influence of obesity on the lipolytic capacity of isolated se fat cells was studied prospectively in 13 women and 10 men, all obese, but otherwise healthy, before and 2 and 3 yr after weight reduction by bariatric surgery. Nonobese subjects (25 women and 17 men) without a family history of obesity served as the control group. Lipolytic capacity was determined after stimulation at different ste