The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variability appears to be influenced by the parental origin of the duplication. We present here the clinical evaluation and psychological assessment of the largest reported family with 12 carriers on three generations. Patients exhibit mental retardation, motor and visuo‐motor skills impairments and adaptive functioning deficit without formal diagnosis of autism. There appeared to be evidence in the family of reduced penetrance in duplication of paternal origin. This familial 15q11q13 duplication was precisely investigated by cytogenetic and molecular techniques including fluorescence in situ hybridization (FISH), PCR analysis of microsatellite markers, array‐comparative genomic hybridization analysis (Array‐CGH) and semi‐quantitative methylation‐sensitive PCR. Results showed an inherited 15q11q13 duplication of maternal origin in 10 patients and of paternal origin in the remaining two. The size of the duplicated area was around 6 Mb with breakpoints in accordance with those previously reported. This report extends the clinical spectrum of the 15q11q13 duplication, and we recommend the investigation of 15q11q13 duplication not only in subjects with autistic spectrum disorder but also in patients with low normal intelligence and dyspraxia. © 2010 Wiley‐Liss, Inc.
Considering the importance of urea-formaldehyde (UF) resins in the wood industry, this work reports on a new bio-based modification of UF resins. The use of 5-hydroxymethyl furfural (HMF) is motivated by the current concerns about the effects of formaldehyde on human health. UF and urea-HMF-formaldehyde (UHF) resins were synthesized by an alkaline-acid method and characterized by FTIR, thermogravimetric analysis, and differential scanning calorimetry. The UHF, as a newly modified polymeric resin, was thermally characterized, and it was found that its thermo-stability and char yield was improved. In order to investigate the performance of the UHF, the preparation of particleboards with the UHF as adhesive, as well as its film formation ability have been studied. The UHF films formed on wood panels were uniform without any crack. Film formation ability of the UHF resin was improved due to the presence of more hydroxyl groups as well as furan rings of the HMF moieties resulting in more activated groups to be bonded by wood. Furthermore, formaldehyde release of the particleboards bonded by UHF was significantly lower than that of which bonded by the UF resin. Lab particleboards using the UHF resins showed higher modulus of rupture, modulus of elasticity, and internal bond compared to boards with UF resins, as well as lower water absorption and thickness swelling. Based on these results UHF resin can be considered as a possible candidate as adhesive for wood and wood based panels.
Polymeric organogels based on acrylic acid and sodium styrene sulfonate (SSS) were synthesized and characterized by Fourier transform infrared spectroscopy, thermogravimetric analysis, dynamic mechanical thermal analysis (DMTA), and rheometrical analyses. The organogels exhibited medium alcohol absorbency because of counterion binding that formed in solvents with low dielectric constants. After acid treatment, the possibility of counterion binding was decreased, and the organogels achieved superabsorbency in alcohols, for example, about 80 and 50 g/g in methanol and ethanol, respectively. The superabsorbency was also measured in higher alcohols (i.e., n-propanol and isopropyl alcohol) and polyols (i.e., ethylene glycol, propylene glycol, 1,3-propanediol, and glycerol). The dielectric constant, viscosity, and structural features of the alcohols were investigated as important parameters determining the alcohol superabsorbency. DMTA of dried samples showed two glass-transition temperatures (T g 's), that is, the matrix T g and the complex T g , which increased with increasing SSS content. The tan d peak intensity increased after the acid treatment. With increasing SSS, the storage modulus of the dried gel increased; whereas that of the rheometrically measured hydrated gel decreased. Tan d decreased with increasing SSS because of enhanced counterion binding. These alcohol-specific superabsorbing organogels are suggested as excellent candidates for the manufacture of products with high alcohol contents, such as hand sanitizers and fuel gels.
The glycerol-lactic acid-based star-shaped modifier (SM) were synthesized and employed for surface modification of hygienic superabsorbent polymer (SAP) hydrogels for the first time. Surface crosslinking was carried out to increase the saline-absorbency under load (AUL) and the swollen gel strength. The surface treatment process was analyzed employing free absorbency and AUL tests, salt sensitivity, attenuated total reflectance-Fourier-transform infrared spectroscopy (ATR-FTIR), oscillatory rheometry, as well as scanning electron microscopy analysis. The effect of the branched architecture and the contents of SM on the properties of the modified SAPs were studied. The implementation of surface treatment leads to increase up to a 28% in the AUL of the modified SAP. Moreover, the loss modulus was surprisingly increased, while the storage modulus was enhanced (possibly due to the star architecture of oligomers). M c and crosslink density values have been estimated based on modified rubber elasticity theory. Salt sensitivity factor ( f ) was calculated; the modified samples showed lower salt sensitivity in NaCl ( f = 0.7) and CaCl 2 ( f = 0.93-0.95) compared with the intact SAP ( f = 0.84 for NaCl, and f = 0.95-0.97 for CaCl 2 ).
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