bluuebunny/crossref_metadata_2025_split huggingface dataset:
The evaluation of cascade testing for familial hypercholesterolemia
Authors: Morris Joan K. , Wald David S. , Wald Nicholas J. 
Published: December 2011

AbstractFamilial hypercholesterolemia (FH) is an autosomal dominant disorder with a high risk of coronary heart disease at a young age that can be reduced by cholesterol‐lowering drugs. Computer simulation was used to estimate the screening performance of three strategies of cascade testing for FH (a process of searching for relatives with FH once an individual is diagnosed with FH): (i) testing parents, siblings, and children (1st degree relatives) of an FH index case, (ii) testing (i) and testing 1st degree relatives of subsequently identified relatives with FH, and (iii) testing (ii) and also testing aunts, uncles, nephews, nieces, grandparents, and first cousins (2nd or 3rd degree relatives) when 1st degree relatives of an individual with FH are not available. For cascade testing to achieve detection rates of 80%, (i) 25%, (ii) 11%, and (iii) 8% of FH index cases who are unrelated need to be identified. To identify these unrelated FH index cases, (i) 45% (ii) 23%, and (iii) 17% of all individuals with FH need to be identified independently of cascade testing. Cascade testing is not a suitable method of population screening for FH, because a separate method of systematically identifying new FH index cases is required to achieve a reasonable level of FH detection in the population. Such an alternative systematic method of identifying new cases could itself be the method of population screening. © 2011 Wiley Periodicals, Inc.
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
Authors: Mannini Linda , Menga Stefania , Tonelli Alessandra , Zanotti Silvia , Bassi Maria Teresa , Magnani Cinzia , Musio Antonio 
Published: December 2011

AbstractCornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome. Here, we describe a 3‐year‐old girl with psychomotor and cognitive impairment, mild facial dysmorphic features but no limb anomaly, heterozygous for a c.1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments. © 2011 Wiley Periodicals, Inc.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome
Authors: Narumi Yoko , Shiohara Masaaki , Wakui Keiko , Hama Asahito , Kojima Seiji , Yoshikawa Kentaro , Amano Yoshiro , Kosho Tomoki , Fukushima Yoshimitsu 
Published: December 2011

Abstract15q24 deletion syndrome is a recently‐described chromosomal disorder, characterized by developmental delay, growth deficiency, distinct facial features, digital abnormalities, loose connective tissue, and genital malformations in males. To date, 19 patients have been reported. We report on a 13‐year‐old boy with this syndrome manifesting childhood myelodysplastic syndrome (MDS). He had characteristic facial features, hypospadias, and mild developmental delay. He showed neutropenia and thrombocytopenia for several years. At age 13 years, bone marrow examination was performed, which showed a sign suggestive of childhood MDS: mild dysplasia in the myeloid, erythroid, and megakaryocytic cell lineages. Array comparative genomic hybridization (array CGH) revealed a de novo 3.4 Mb 15q24.1q24.3 deletion. Although MDS has not been described in patients with the syndrome, a boy was reported to have acute lymphoblastic leukemia (ALL). The development of MDS and hematological malignancy in the syndrome might be caused by the haploinsufficiency of deleted 15q24 segment either alone or in combination with other genetic abnormalities in hematopoietic cells. Further hematological investigation is recommended to be beneficial if physical and hematological examination results are suggestive of hematopoietic disturbance in patients with the syndrome. © 2011 Wiley Periodicals, Inc.
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
Authors: Oudesluijs Grétel , Simon Marleen E.H. , Burggraaf Rianne H.J. , Waterham Hans R. , Hennekam Raoul C.M. 
Published: December 2011

AbstractWe describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead, mildly underdeveloped midface, hypertelorism, depressed nasal bridge, short and upturned nose, large mouth, retrognathia, and large and malformed ears. Work‐up included cytogenetic studies of lymphocytes and skin fibroblasts, subtelomere Multiplex Ligation‐dependent Probe Amplification (MLPA), whole‐genome oligo‐array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated. Results of metabolic studies for sterol and peroxisomal abnormalities in fibroblasts were normal. Additional electronic microscopy studies in skin fibroblasts did not show evidence for storage in fibroblasts or lysosomal changes. Nosologic considerations allowed exclusion of Schinzel–Giedion and Urioste syndrome. This condition seems not to have been described before; a segregating Mendelian mutation is assumed. © 2011 Wiley Periodicals, Inc.
Report of a mother and daughter with the 12q14 microdeletion syndrome
Authors: Bibb Audrey L. , Rosenfeld Jill A. , Weaver David D. 
Published: December 2011

AbstractThe 12q14 microdeletion syndrome is characterized by microcephaly, short stature, osteopoikilosis, weight deficiency, and learning disabilities. We report on a mother and daughter with a 12q14 microdeletion. To our knowledge these are the first reported familial cases with the syndrome. We also discuss the genes in the deleted area that may be contributing to the phenotype. © 2011 Wiley Periodicals, Inc.
Catalytic potential of a nitrocellulose membrane‐immobilized lipase in aqueous and organic media
Authors: Kumar Ashok , Kanwar Shamsher S. 
Published: December 2011

AbstractArtificial membranes are ideal supports for enzyme immobilization and biocatalysis. The binding of a commercial lipase, Lipolase T20 on to nitrocellulose (NC) membrane was achieved by physical adsorption followed by cross‐linking with formalin (2%). The NC‐immobilized lipase was characterized for its catalytic activity and operational stability, using p‐nitrophenyl palmitate (p‐NPP) hydrolysis as a model reaction system. Functionally membrane bound lipase was more stable than free lipase (55°C) at higher temperature (65 and 75°C) and at pH 9.0 to 9.5. The hydrolytic properties of NC‐bound lipase were studied consecutively as a function of physicochemical parameters. The NC‐bound lipase was highly hydrolytic toward relatively longer C‐chain length esters. This indicated a preferential selectivity of NC‐bound lipase toward the p‐NPP with an activity of 6.03 + 0.30 IU/cm2. The nonionic detergents like Tween‐20, 40, and 60 promoted the hydrolytic activity of membrane‐bound lipase, while Tween‐80 prompted a decline in the activity of NC‐membrane bound lipase. Among various salt ions, Ca2+, Al3+, Zn2+, and Cu2+ showed a stimulatory effect while Fe2+, NH4+, Cd2+, and Zn2+ antagonized the hydrolytic activity of the bound lipase. The immobilized lipase was studied for its reusability and was found to retain >50% of hydrolytic activity after fifth repetitive cycle. In DMSO, the synthesis of octyl ferulate at 55°C under shaking (150 rpm) using ferulic acid (75 mM) and 1‐octanol (100 mM) was achieved with a yield of ˜61 mM of ester (1‐octyl ferulate) as analyzed by gas liquid chromatography. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Effect of attapulgite contents on release behaviors of a pH sensitive carboxymethyl cellulose‐g‐poly(acrylic acid)/attapulgite/sodium alginate composite hydrogel bead containing diclofenac
Authors: Wang Qin , Wang Wenbo , Wu Jie , Wang Aiqin 
Published: December 2011

AbstractA series of pH‐sensitive composite hydrogel beads, carboxymethyl cellulose‐g‐poly(acrylic acid)/attapulgite/sodium alginate (CMC‐g‐PAA/APT/SA), were prepared by combining CMC‐g‐PAA/APT composite and SA, using Ca2+ as the ionic crosslinking agent and diclofenac sodium (DS) as the model drug. The effects of APT content and external pH on the swelling properties and release behaviors of DS from the composite hydrogel beads were investigated. The results showed that the composite hydrogel beads exhibited good pH‐sensitivity. Introducing 20% APT into CMC‐g‐PAA hydrogel could change the surface structure of the composite hydrogel beads, decrease the swelling ability, and relieve the burst release effect of DS. The drug cumulative release ratio of DS from the hydrogel beads in simulated gastric fluid was only 3.71% within 3 hour, but in simulated intestinal fluid about 50% for 3 hour, 85% for 12 hour, up to 90% after 24 hour. The obtained results indicated that the CMC‐g‐PAA/APT/SA hydrogel beads could be applied to the drug delivery system as drug carriers in the intestinal tract. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Thermal stability of HCl‐doped‐polyaniline and TiO2 nanoparticles‐based nanocomposites
Authors: Ansari Mohd Omaish , Mohammad Faiz 
Published: December 2011

AbstractElectrically conductive HCl doped polyaniline (Pani) : titanium dioxide (TiO2) nanocomposites thin films were prepared by in‐situ oxidative polymerization of aniline in the presence of different amounts of TiO2 nanoparticles. Later film casting was done using N‐Methyl‐2‐pyrrolidone (NMP) as a solvent. The formation of Pani : TiO2 nanocomposites were characterized by Fourier Transform Infra‐Red spectroscopy (FTIR), x‐ray diffraction (XRD) and thermogravimetric analysis (TGA). The stability of the nanocomposites in terms of direct‐current electrical conductivity retention was studied in air by isothermal and cyclic techniques. The films of Pani : TiO2 nanocomposites were observed thermally more stable under ambient environmental conditions than pure polyaniline film. The stability was seen to be highly dependent on the content of TiO2 nanoparticles in the nanocomposite films. Due to their high stability, such type of nanocomposites can find place as a replacement material for pure polyaniline in electrical and electronic devices. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Synthesis and characterization of poly(hydroxamic acid)–poly(amidoxime) chelating ligands from polymer‐grafted acacia cellulose
Authors: Yong Wen Simon Siew , Rahman Md Lutfor , Arshad Sazmal Effendi , Surugau Noumie @ Loumie , Musta Baba 
Published: December 2011

AbstractGraft copolymerization of methyl acrylate (MA) and acrylonitrile (AN) onto acacia cellulose was carried out using free radical initiating process in which ceric ammonium nitrate (CAN) was used as an initiator. The optimum grafting yield was determined by the certain amount of acacia cellulose (AGU), mineral acid (H2SO4), CAN, MA, and AN at 0.062, 0.120, 0.016, 0.397, and 0.550 mol L−1, respectively. The poly(methyl acrylate‐co‐acrylonitrile)‐grafted acacia cellulose was obtained at 55°C after 2‐h stirring, and purified acrylic polymer‐grafted cellulose was characterized by FTIR and TG analysis. Therein, the ester and nitrile functional groups of the grafted copolymers were reacted with hydroxylamine solution for conversion into the hydroxamic acid and amidoxime ligands. The chelating behavior of the prepared ligands toward some metal ions was investigated using batch technique. The metal ions sorption capacities of the ligands were pH dependent, and the sorption capacity toward the metal ions was in the following order: Zn2+ > Fe3+ > Cr3+ > Cu2+ > Ni2+. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Alternating multilayer structure of polyethylene/polypropylene blends obtained through injection molding
Authors: Jiang Kun , Yu Feilong , Bai Hongwei , Gao Jian , Deng Hua , Zhang Qin , Fu Qiang 
Published: December 2011

AbstractThe formation of multilayer structures in the high‐speed thin wall injection‐molded samples of high‐density polyethylene/isotactic polypropylene blends is reported. Based on the morphology development in injection runner and mold, a possible formation mechanism of multilayer structure was proposed in this study. Injection molding could be used as a simple and an effective method for the fabrication of multifunctional multilayer structure. This work is interesting and important for scientific research as well as several potential applications. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Morphological changes of poly(ethylene terephthalate‐co‐isophthalate) during solid state polymerization
Authors: Vouyiouka Stamatina N. , Filgueiras Viviane , Papaspyrides Constantine D. , Lima Enrique L. , Pinto Jose Carlos 
Published: December 2011

AbstractPoly(ethylene terephthalate‐co‐isophthalate) (PETI) prepolymer was submitted to solid state polymerization (SSP) at 184–230°C in a fixed bed reactor, to study the evolution of morphological changes during the process. Short reaction times were selected to investigate crystallization phenomena during nonisothermal (heating) and isothermal SSP phases. More specifically, multiple PETI melting behavior was observed and attributed to secondary crystallization, the rate of which increased significantly with SSP temperature. Reaction time was also found to exert a positive effect on solid‐phase perfection of secondary crystals, leading at each temperature to melting points close to the value of bottle‐grade poly(ethylene terephthalate). Finally, the mass fraction crystallinity of the SSP grades was found to comply with the crystal morphology encountered. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Synergistic flame retardant effect of poly(ether sulfones) and polysiloxane on polycarbonate
Authors: Liu Shu‐Mei , Yang Yan , Jiang Zhi‐Jie , Zhou Yan‐Hui , Zuo Jian , Zhao Jian‐Qing 
Published: December 2011

AbstractFlame retardance of bisphenol A polycarbonate (PC) was improved by the co‐addition of poly (ether sulfones) (PES) and polysiloxane/acrylate copolymer (PSiA) while retaining a high rigidity and toughness. A UL 94 V‐0 rating for 1.6‐mm thick samples of PC/PES/PSiA blend with 10.0 wt % PES and 0.5 wt % PSiA (PC/10PES/0.5PSiA) was obtained. Its average heat release rate (av‐HRR) in a cone calorimeter measurement was decreased by 19% on the basis of PC/PES blend with 10.0 wt % PES. Scanning electron microscopy (SEM) morphologies of impact‐fractured surfaces revealed that the incorporation of 0.5 wt % PSiA decreased the dimensions of PES dispersed phase and provoked the uniform distribution of PES in PC matrix. Thermogravimetric‐Fourier transform infrared spectroscopy analysis results revealed that PSiA dominantly promoted the degradation of PC and the degraded products were combined with PES to form a superior flame‐retarded carbon layer. A higher sulfur and silicon content on the residue surface after vertical burning tests detected by SEM/energy dispersive spectrometer signified their accumulation during combustion. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Amine treatment of polyvinyl chloride/wood flour composites
Authors: Müller Marcus , Grüneberg Timo , Militz Holger , Krause Andreas 
Published: December 2011

AbstractEthanolamine and L‐arginine treated wood flour were added to polyvinyl chloride (PVC) in order to improve the interphase between PVC and wood. The influence of the treatment on pH‐value changes and nitrogen fixation of the wood and mechanical properties of the composite were evaluated. The treatments changed the pH of wood from acidic to basic. The highest nitrogen fixation was measured for monoethanolamine and L‐arginine treated wood flour at high concentrations. Tensile strength, elongation at break, and unnotched impact strength were improved by ethanolamine and L‐arginine treatments considerably. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Puncturing the Skin of the Self: A Psychoanalytic Perspective on Why Prejudice Hurts
Authors: Ad‐Dab'bagh Yasser 
Published: December 2011

ABSTRACTThere is growing interest in the psychodynamics of prejudice. An aspect of prejudice seldom addressed is its peculiar capacity to be injurious to victims. Through a process of self‐analysis stimulated by chance reading of some of Freud's work, I will reflect on the vicissitudes of the development of the function of cultural boundary attributed to the psychological integument, or the “skin of the self”. Further, I will postulate the role of this “psychological skin” as the target for prejudicial assaults and the dynamics of the resulting psychological reactions. This “cultural function” will be contrasted with the well‐established notion of the containment function of the psychological skin. Finally, I will link the discussed framework to possible socio‐cultural implications. Copyright © 2011 John Wiley & Sons, Ltd.
The prevalence of HLA–B27 in the US: Data from the US National Health and Nutrition Examination Survey, 2009
Authors: Reveille John D. , Hirsch Rosemarie , Dillon Charles F. , Carroll Margaret D. , Weisman Michael H. 
Published: December 2011

AbstractObjectiveTo carry out the first large‐scale population study of the prevalence of HLA–B27 in the US, which is needed for public health planning purposes because of recent improvements in medical therapy and diagnostic testing for ankylosing spondylitis (AS).MethodsThe national prevalence of HLA–B27 was determined as part of the 2009 US National Health and Nutrition Examination Survey (NHANES), a cross‐sectional survey monitoring the health and nutritional status of the US civilian, noninstitutionalized population. DNA polymerase chain reaction analysis was conducted in samples from 2,320 adults ages 20–69 years from this nationally representative sample.ResultsThe age‐adjusted US prevalence of B27 was 6.1% (95% confidence interval [95% CI] 4.6–8.2). By race/ethnicity, the prevalence of B27 was 7.5% (95% CI 5.3–10.4) among non‐Hispanic whites and 3.5% (95% CI 2.5–4.8) among all other US races/ethnicities combined. In Mexican Americans, the prevalence was 4.6% (95% CI 3.4–6.1). The prevalence of B27 could not be reliably estimated for other US racial/ethnic groups because of the low number of B27‐positive individuals in those groups. For adults 50–69 years of age, the prevalence of B27 was 3.6% (95% CI 2.2–5.8), which suggested a decrease in B27 with age. These prevalence estimates took into account the NHANES survey design and are reviewed with respect to data from the medical literature.ConclusionOur findings provide the first US national prevalence estimates for HLA–B27. A decline in the prevalence of HLA–B27 with age is suggested by these data but must be confirmed by additional studies.
Resolution of inflammation induces osteoblast function and regulates the Wnt signaling pathway
Authors: Matzelle Melissa M. , Gallant Maxime A. , Condon Keith W. , Walsh Nicole C. , Manning Catherine A. , Stein Gary S. , Lian Jane B. , Burr David B. , Gravallese Ellen M. 
Published: December 2011

AbstractObjectiveInflammation in the bone microenvironment stimulates osteoclast differentiation, resulting in uncoupling of resorption and formation. Mechanisms contributing to the inhibition of osteoblast function in inflammatory diseases, however, have not been elucidated. Rheumatoid arthritis (RA) is a prototype of an inflammatory arthritis that results in focal loss of articular bone. The paucity of bone repair in inflammatory diseases such as RA raises compelling questions regarding the impact of inflammation on bone formation. The aim of this study was to establish the mechanisms by which inflammation regulates osteoblast activity.MethodsWe characterized an innovative variant of a murine model of arthritis in which inflammation is induced in C57BL/6J mice by transfer of arthritogenic K/BxN serum and allowed to resolve.ResultsIn the setting of resolving inflammation, bone resorption ceased and appositional osteoblast‐mediated bone formation was induced, resulting in repair of eroded bone. Resolution of inflammation was accompanied by striking changes in the expression of regulators of the Wnt/β‐catenin pathway, which is critical for osteoblast differentiation and function. Down‐regulation of the Wnt antagonists secreted frizzled‐related protein 1 (sFRP1) and sFRP2 during the resolution phase paralleled induction of the anabolic and pro–matrix mineralization factors Wnt10b and DKK2, demonstrating the role of inflammation in regulating Wnt signaling.ConclusionRepair of articular bone erosion occurs in the setting of resolving inflammation, accompanied by alterations in the Wnt signaling pathway. These data imply that in inflammatory diseases that result in persistent articular bone loss, strict control of inflammation may not be achieved and may be essential for the generation of an anabolic microenvironment that supports bone formation and repair.
Knee confidence as it relates to physical function outcome in persons with or at high risk of knee osteoarthritis in the Osteoarthritis Initiative
Authors: Colbert Carmelita J. , Song Jing , Dunlop Dorothy , Chmiel Joan S. , Hayes Karen W. , Cahue September , Moisio Kirsten C. , Chang Alison H. , Sharma Leena 
Published: December 2011

AbstractObjectiveTo evaluate whether low knee confidence at baseline is associated with poor baseline‐to‐3‐year physical function outcome in the Osteoarthritis Initiative.MethodsKnee confidence was assessed using an item from the Knee Injury and Osteoarthritis Outcome Score instrument. Physical function was assessed using self‐report measures (Western Ontario and McMaster Universities Osteoarthritis Index [WOMAC] function score and Short Form 12 physical component scale) and performance‐based measures (20‐meter walk and chair stand test). Poor function outcome was defined as moving into a worse function group or remaining in the 2 worst function groups between baseline and 3 years. Logistic regression was used to evaluate the relationship between baseline knee confidence level and poor baseline‐to‐3‐year function outcome, adjusting for potential confounders.ResultsThe sample included 3,975 men and women with or at high risk of developing osteoarthritis of the knee, of whom 37–53% had poor baseline‐to‐3‐year function outcome. For both self‐report measures, increasingly worse knee confidence was associated with a greater risk of poor function outcome, and trend tests supported a graded response (e.g., the adjusted odds ratios [95% confidence intervals] for the WOMAC function score for worsening confidence categories were 1.26 [1.07–1.49], 1.43 [1.16–1.77], and 2.05 [1.49–2.82], P for trend <0.0001). Similar associations between confidence and performance‐based function outcome were observed, but statistical significance did not persist in adjusted analyses. Factors independently associated with poor function outcome for all 4 outcome measures were depressive symptoms, comorbidity, body mass index, and joint space narrowing.ConclusionThese findings indicate that worse knee confidence at baseline is independently associated with greater risk of poor function outcome by self‐report measures, with evidence of a graded response; the relationship with performance measures is not significant in fully adjusted models.