bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
Authors: Osbun Nathan , Li Jiang , O'Driscoll Mary C. , Strominger Zoe , Wakahiro Mari , Rider Eric , Bukshpun Polina , Boland Elena , Spurrell Cailyn H. , Schackwitz Wendy , Pennacchio Len A. , Dobyns William B. , Black Graeme C.M. , Sherr Elliott H. 
Published: July 2011

AbstractAgenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in approximately 1:1,000–1:6,000 births. Several syndromes associated with AgCC have been traced to single gene mutations; however, the majority of AgCC causes remain unidentified. We investigated a mother and two children who all shared complete AgCC and a chromosomal deletion at 1q42. We fine mapped this deletion and show that it includes Disrupted‐in‐Schizophrenia 1 (DISC1), a gene implicated in schizophrenia and other psychiatric disorders. Furthermore, we report a de novo chromosomal deletion at 1q42.13 to q44, which includes DISC1, in another individual with AgCC. We resequenced DISC1 in a cohort of 144 well‐characterized AgCC individuals and identified 20 sequence changes, of which 4 are rare potentially pathogenic variants. Two of these variants were undetected in 768 control chromosomes. One of these is a splice site mutation at the 5′ boundary of exon 11 that dramatically reduces full‐length mRNA expression of DISC1, but not of shorter forms. We investigated the developmental expression of mouse DISC1 and find that it is highly expressed in the embryonic corpus callosum at a critical time for callosal formation. Taken together our results suggest a significant role for DISC1 in corpus callosum development. © 2011 Wiley‐Liss, Inc.
Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism
Authors: Pilozzi‐Edmonds Laura , Maher Thomas A. , Basran Raveen K. , Milunsky Aubrey , Al‐Thihli Khalid , Braverman Nancy E. , Alfares Ahmed 
Published: July 2011

AbstractAarskog–Scott syndrome is a rare X‐linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley‐Liss, Inc.
Hyperphosphatasia‐mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum
Authors: Horn Denise , Krawitz Peter , Mannhardt Anca , Korenke Georg Christoph , Meinecke Peter 
Published: July 2011

AbstractHyperphosphatasia‐mental retardation syndrome is a recently delineated disorder associated with a recognizable facial phenotype and brachytelephalangy. This autosomal recessive condition is caused by homozygous and compound heterozygous missense mutations of PIGV, encoding a member of the GPI‐anchor biosynthesis pathway. Here, we report on two further, unrelated patients with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, anal atresia in one and Hirschsprung disease in the other patient. By sequencing PIGV we detected compound heterozygous mutations c.467G>A and c.1022C>A in Patient 1 and a homozygous mutation c.1022C>A in Patient 2. We reviewed the eight reported cases with proven PIGV mutations and re‐defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum. Moreover, seizures and muscular hypotonia are frequently associated with PIGV mutations. © 2011 Wiley‐Liss, Inc.
Revisiting recombinant 8 syndrome
Authors: Pickler Laura , Wilson Rebecca , Tsai Anne C‐H 
Published: July 2011

AbstractRecombinant 8 syndrome, also known as San Luis Valley syndrome, is a rare but important cause for developmental delay and chronic illness noted among individuals of Hispanic ancestry that occurs with greater reported frequency in the Southwest United States. The recombinant chromosome is rec(8)dup(8q)inv(8)(p23.1q22.1) and in all known cases is derived by a parental pericentric inversion, inv(8)(p23.1q22.1). To test our hypothesis that modern medical management strategies may alter the outcome of patients with recombinant 8 syndrome in regard to mortality, morbidity, and neurodevelopmental outcomes, we sought to update the natural history of recombinant 8 syndrome by completing a thorough medical and psychological assessment of affected individuals. Twelve affected individuals, ranging from 2 to 21 years of age, were recruited with IRB approval. Our patients scored on in the mild to severe cognitive functioning level (range 30–70), with surprising preservation in the social/adaptive arenas. Most patients responded well to heart surgery and developmental outcomes were in proportion to cardiac status. Orthopedic surgery to ameliorate effects of spasticity can be complicated by long recovery times and decreased ability to ambulate. Our findings do not support additional morbidly during cardiac repair. Taken together, our findings support a consistent phenotype with improved survival in comparison to previously published studies. Efforts to encourage learning and developmental progress should not be withheld as quality of life for many of these individuals is considered good by their families and medical providers. © 2011 Wiley‐Liss, Inc.
Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy
Authors: Geelen Els , Van Hoyweghen Ine , Doevendans Pieter A. , Marcelis Carlo L.M. , Horstman Klasien 
Published: July 2011

AbstractProfessional guidelines on genetic testing of children have recently shifted their focus from protecting the child's autonomous choice to professionals, together with parents, striving to work in the child's “best interest.” This notion of “best interest” allows room for therapeutical as well as psychological and social considerations, and gives rise to the question how parents and professionals weigh up the child's best interest in practice. In this qualitative study, we followed six extended families involved in genetic testing for hypertrophic cardiomyopathy in the Netherlands for 3½ years. In total 57 members of these families were interviewed in depth; many of them more than once. Our empirical analysis shows that the best interest of a child is constructed via long‐term processes in the broader context of family and kin. In this context, “best interests” are considered and reconsidered. We conclude that a child's best interest should not be framed as the result of an instantaneous agreement between parents and professionals. In dealing with genetic testing of children, parents as well as professionals reflect on and learn from the processes of generating new meanings of “best interest.” To enable professionals to deal with the variety in family life, these learning processes should be documented closely. © 2011 Wiley‐Liss, Inc.
Preparation and characterization of aqueous polyurethane dispersions with well‐defined soft segments
Authors: Zhang Qunchao , Hu Jiankun , Gong Shuling 
Published: July 2011

AbstractNovel aqueous polyurethane (PU) hybrid dispersions were successfully prepared with 5–15 mol % functionalized hexamethylene diisocynate trimer modified by N‐(n‐butyl)‐3‐aminopropyltriethoxysilane and dihydroxylpropyl‐terminated siloxane oligomers (TS). The results of the differential scanning calorimetry and X‐ray diffraction tests show that the degree of segment order was reduced by the introduction of TS. The hybrid polymer films with TS introduced into the PU backbone displayed excellent water and xylene resistance. Atomic force microscopy showed that the films had a smooth surface. It was noticeable that the tensile strength (σb) and Young's modulus of the films increased simultaneously when TS was incorporated into PU; σb of the PU15 film with 15 mol % TS was much higher than that of the neat PU0 film, and the breaking elongation of the film with 10 mol % TS was clearly higher than that of the other films. The results indicate that an appropriate content of TS significantly improved the properties of the aqueous PU hybrids. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Preparation and properties of phosphorylated and crosslinked poly(vinyl alcohol)/bisphenol A–epoxy resin membranes for fuel cell applications
Authors: Yuan Yuan , Liu Jianhong , Li Cuihua , Fang Jianhua , Wang Shushan , Guan Rong 
Published: July 2011

AbstractTo overcome the strong dependence of the conductivity on the relative humidity and the lower thermal stability at high temperature of perfluorosulfonate polymers and the leaching‐out problem of phosphoric acid doped membranes, a series of phosphorylated and crosslinked poly(vinyl alcohol) (PVA)/bisphenol A–epoxy resin [diglycidyl ether of bisphenol A (DGEBA)] membranes were prepared. The membrane properties were characterized by Fourier transform infrared spectra, solubility, thermogravimetric analysis, water uptake, swelling ratio, ion‐exchange capacity (IEC), small‐angle X‐ray scattering, and proton conductivity measurements. The results show that the crosslinked PVA/DGEBA membrane had a higher thermal stability (Td ≥ 250°C) than the pure PVA membrane (Td ≥ 220°C) and that the phosphorylated and crosslinked PVA/DGEBA membranes (IEC = 5.54 mmol/g) with a low volume swelling ratio (7.21%) could achieve a maximum proton conductivity of 2.51 × 10−3 S/cm at a temperature as high as 150°C in anhydrous conditions © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Effects of alpha‐tocopherol addition to polymeric coatings on the UV and heat resistance of a fibrous collagen material—chrome‐free leather
Authors: Liu Cheng‐Kung , Latona Nicholas P. , Ramos Mila 
Published: July 2011

AbstractThe US is the world's 3rd largest hide producing country and currently produces approximately 35 million cattle hides annually. The majority of hides are tanned into leather, which is composed of collagen fibers interwoven into fibrous networks. Most leather products are constantly exposed to outdoor environments, therefore UV and heat resistance are very important qualities, particularly for nonchrome‐tanned (chrome‐free) leather. In recent years, we have focused on using environmentally friendly antioxidants that will improve the UV and heat resistance of chrome‐free leather. Tocopherols are well‐known antioxidants commonly used in the cosmetic and food industries. They are known as potent free radical scavengers and highly protective agents for collagen fibers against UV damage. We have investigated their potential to improve the UV and heat resistance of chrome‐free leather. Experiments were conducted by adding 5–12% α‐tocopherol to the polymeric topcoat on the grain of chrome‐free leather. The treated samples were tested in a weatherometer, where they were exposed to artificial sunlight. Colorfastness and mechanical property tests showed that α‐tocopherol significantly improved UV and heat resistance of leather. Dynamic mechanical tests showed that α‐tocopherol reduced the hardening effects on leather caused by UV irradiation. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Properties and degradation behavior of surface functionalized MWCNT/poly(L‐lactide‐co‐ε‐caprolactone) biodegradable nanocomposites
Authors: Amirian Maryam , Sui Jiehe , Chakoli Ali Nabipour , Cai Wei 
Published: July 2011

AbstractIn this research, poly(L‐lactide‐co‐ε‐caprolactone) (PLACL) reinforced with well‐dispersed multiwalled carbon nanotubes (MWCNTs) nanocomposites were prepared by oxidization and functionalization of the MWCNT surfaces using oligomeric L‐lactide (LA) and ε‐caprolactone (CL). It is found that the surface functionalization can effectively improve the dispersion and adhesion of MWCNTs in PLACL. The surface functionalization will have a significant effect on the physical, thermomechanical, and degradation properties of MWCNT/PLACL composites. The tensile modulus, yield stress, tensile strength, and elongation at break of composite increased 49%, 60%, 70%, and 94%, respectively, when the concentration of functionalized MWCNTs in composite is 2 wt %. The in vitro degradation rate of nanocomposites in phosphate buffer solution increased about 100%. The glass transition temperature (Tg) of composites was decreased when the concentration of functionalized MWCNTs is 0.5 wt %. With further increasing the concentration of functionalized MWCNTs, the Tg was increased. The degradation kinetics of nanocomposites can be engineered and functionalized by varying the contents of pristine or functionalized MWCNTs. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Glycidyl methacrylate grafted natural rubber: Synthesis, characterization, and mechanical property
Authors: Juntuek Punmanee , Ruksakulpiwat Chaiwat , Chumsamrong Praneee , Ruksakulpiwat Yupaporn 
Published: July 2011

AbstractGlycidyl methacrylate (GMA) was grafted onto natural rubber (NR) using emulsion polymerization method. The structures of copolymers were characterized by 1H nuclear magnetic resonance (1H‐NMR), solid state 13C‐NMR spectroscopy, and Fourier transform infrared spectrometer (FTIR). The %grafting obtained from the gravimetric method and the absorbance ratio were compared. Effects of reaction temperature, GMA content, and reaction time on %grafting, grafting efficiency, and %conversion of GMA monomer were determined. Effect of %grafting on mechanical properties of the graft copolymer was studied. Experimental result showed that the appropriate reaction time was 8 h at a reaction temperature of 30°C. Moreover, tensile strength and modulus of the graft copolymer increased with increasing %grafting. However, elongation at break of the graft copolymer decreased with increasing %grafting. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci 122: 3152–3159, 2011
Remission of rheumatoid arthritis in clinical practice: Application of the American College of Rheumatology/European League Against Rheumatism 2011 remission criteria
Authors: Shahouri Shadi H. , Michaud Kaleb , Mikuls Ted R. , Caplan Liron , Shaver Timothy S. , Anderson James D. , Weidensaul David N. , Busch Ruth E. , Wang Shirley , Wolfe Frederick 
Published: July 2011

AbstractObjectiveTo describe use of the American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) rheumatoid arthritis (RA) remission criteria in clinical practice.MethodsRemission was examined using data on 1,341 patients with RA (91% men) from the US Department of Veterans Affairs RA (VARA) registry (total of 9,700 visits) and 1,153 patients with RA (25.8% men) in a community rheumatology practice (Arthritis and Rheumatology Clinics of Kansas [ARCK]) (total of 6,362 visits). Cross‐sectional and cumulative probabilities were studied, and agreement between the various remission criteria was assessed. Aspects of reliability of the criteria were determined using Boolean‐based definitions, as well as the Clinical Disease Activity Index (CDAI) and Simplified Disease Activity Index (SDAI) scoring methods proposed by the ACR/EULAR joint committee.ResultsWhen the 3‐variable ACR/EULAR definition of remission recommended for use in community practice (swollen and tender joint counts ≤1, and visual analog scale score for patient's global assessment of disease activity ≤1) was applied, cross‐sectional remission was 7.5% (95% confidence interval [95% CI] 6.4, 8.7%) for ARCK and 8.9% (95% CI 7.9, 9.9%) for VARA, and cumulative remission (remission at any observation) was 18.0% (for ARCK) and 24.4% (for VARA), over a mean followup of ∼2.2 years. Addition of the erythrocyte sedimentation rate or C‐reactive protein level to the criteria set reduced remission to 5.0–6.2%, and use of the CDAI/SDAI increased the proportions to 6.9–10.1%. Moreover, 1.8–4.6% of the patients met remission criteria at ≥2 visits. Agreement between criteria definitions was good, as assessed by kappa statistics and Jaccard coefficients. Among patients in remission, the probability of a remission lasting 2 years was 6.0–14.1%. Among all patients, the probability of a remission lasting 2 years was <3%. Remission status and examination results for each patient varied substantially among physicians, as determined by multilevel analyses.ConclusionCross‐sectional remission occurred in 5.0–10.1% of the patients in these cohorts, with cumulative remission being 2–3 times greater; however, long‐term remission was rare. Problems with reliability and agreement limit the usefulness of these criteria in the individual patient. However, the criteria can be an effective method for measuring clinical status and treatment effect in groups of patients in the community.
Interactions of human monoclonal and polyclonal antiphospholipid antibodies with serine proteases involved in hemostasis
Authors: Lambrianides Anastasia , Turner‐Stokes Tabitha , Pericleous Charis , Ehsanullah Jasmine , Papadimitraki Eva , Poulton Katie , Ioannou Yiannis , Lawrie Andrew , Mackie Ian , Chen Pojen , Latchman David , Isenberg David , Rahman Anisur , Giles Ian 
Published: July 2011

AbstractObjectiveTo characterize the interaction between procoagulant and/or anticoagulant serine proteases and human monoclonal IgG antiphospholipid antibodies (aPL) and polyclonal IgG derived from patients with the antiphospholipid syndrome (APS).MethodsFive human monoclonal IgG with small differences in their sequences were tested for binding to protein C, activated protein C, plasmin, factor VIIa (FVIIa), FIX, FIXa, and FXII. Serum levels of antithrombin and anti–activated protein C were compared in 32 patients with APS, 29 patients with systemic lupus erythematosus (SLE), and 22 healthy controls. Purified polyclonal IgG derived from APS patients with elevated levels of serum antithrombin antibodies was also tested for its functional effects on thrombin and antithrombin activity.ResultsStudies of monoclonal antibodies showed that sequence changes in human aPL are important in determining their ability to bind procoagulant and anticoagulant/fibrinolytic serine proteases. Mean IgG antithrombin levels were significantly elevated in patients with APS and in SLE patients with aPL but no APS (SLE/aPL+) compared to healthy controls, but anti–activated protein C levels were not increased in these patients. Moreover, IgG purified from patients with APS displayed higher avidity for thrombin and significantly inhibited antithrombin inactivation of thrombin compared with IgG from SLE/aPL+ patients.ConclusionHigh‐avidity antithrombin antibodies, which prevent antithrombin inactivation of thrombin, distinguish patients with APS from SLE/aPL+ patients, and thus may contribute to the pathogenesis of vascular thrombosis in APS.
Improved assimilation of data from China's FY‐3A microwave temperature sounder
Authors: Lu Qifeng , Bell W. , Bormann N. , Bauer P. , Peubey C. , Geer A. J. 
Published: July 2011

AbstractThe FY‐3A microwave temperature sounder (MWTS) suffers from nonlinearities in the calibration of the radiometer and uncertainties in the radiometer passbands. Corrections have been developed and are assessed here by comparing recalibrated MWTS data with equivalent advanced microwave sounding unit‐A (AMSU‐A) observations. The corrections are effective in improving the first guess departure statistics for MWTS, relative to the original uncorrected data, to values close to those for AMSU‐A equivalent channels. In observing system experiments, MWTS observations improve the first guess fits for AMSU‐A observations. Forecast verification shows a systematic improvement by using the recalibrated data, e.g. forecasts of 200 hPa geopotential are improved to Day 3 in the SH by approximately 1%. Copyright © 2011 Royal Meteorological Society
Rapid validation of cancer genes in chimeras derived from established genetically engineered mouse models
Authors: Huijbers Ivo J. , Krimpenfort Paul , Berns Anton , Jonkers Jos 
Published: July 2011

AbstractRecent technological advances have opened the door for the fast and cost‐effective generation of genetically engineered mouse models (GEMMs) to study cancer. We describe here a conceptually novel approach for the generation of chimeric GEMMs based on the controlled introduction of various genetic elements in embryonic stem cells (ESCs) that are derived from existing mouse strains with a predisposition for cancer. The isolation of GEMM‐derived ESC lines is greatly facilitated by the availability of the newly defined culture media containing inhibitors that effectively preserve ESC pluripotency. The feasibility of the GEMM‐ESC approach is discussed in light of current literature and placed into the context of existing models. This approach will allow for fast and flexible validation of candidate cancer genes and drug targets and will result in a repository of GEMM‐ESC lines and corresponding vector collections that enable easy distribution and use of preclinical models to the wider scientific community.
Liquid chromatography–tandem mass spectrometry for quantification of lacosamide, an antiepileptic drug, in rat plasma and its application to pharmacokinetic study
Authors: Kim Soo‐Jin , Koo Tae‐Sung , Ha Dong‐Jin , Baek Myoungki , Lee Sang‐Kil , Shin Dong‐Soo , Moon Hongsik 
Published: July 2011

ABSTRACTA rapid, simple and sensitive liquid chromatography–tandem mass spectrometry (LC/MS/MS) was developed for the determination of an antiepileptic drug, lacosamide, in rat plasma. The method involves the addition of acetonitrile and internal standard solution to plasma samples, followed by centrifugation. An aliquot of the supernatant was diluted with water and directly injected into the LC/MS/MS system. The separations were performed on column packed with octadecylsilica (5 µm, 2.0 × 50 mm) with 0.1% formic acid and acetonitrile as mobile phase, and the detection was performed on tandem mass spectrometry by the multiple‐reaction monitoring via an electrospray ionization source. The standard curve was linear over the concentration range from 0.3 to 1000 ng/mL. The lower limit of quantification was 0.3 ng/mL using 50 μL of rat plasma sample. The intra‐ and inter‐assay precision and accuracy were found to be less than 11.7 and 8.8%, respectively. The developed analytical method was successfully applied to the pharmacokinetic study of lacosamide in rats. Copyright © 2011 John Wiley & Sons, Ltd.
Giovanni Maria Lancisi (1654–1720): Anatomist and papal physician
Authors: Klaassen Zachary , Chen Justin , Dixit Vidya , Tubbs R. Shane , Shoja Mohammadali M. , Loukas Marios 
Published: July 2011

AbstractGiovanni Maria Lancisi (1654–1720) was an Italian physician who made significant contributions to many fields of medicine. De subitaneis mortibus was the first autoptic manuscript, suggesting that myocardial disease was a factor in a 1706 sudden death epidemic in Rome. His book De motu cordis et aneurysmatibus described the pathology and etiology of aneurysms, and Tractatus de urinis was the first discussion of the physiological mechanism of urine formation. Arguably, Lancisi's most notable medical contribution was the anatomical description of the medial longitudinal striae of the corpus callosum, in addition to other documents he wrote in the field of neurology. Aside from his medical work, Lancisi developed the “stamping out” method for eradication of the cattle plague in Europe, and he contributed to early work in malarial research. Lancisi was a multifaceted man with vast interests outside of medicine including language and literature. Over the course of his life, Lancisi opened his own medical library, was chair of anatomy for 13 years at Sapienza University, and served as papal physician to three popes. Clin. Anat. 24:802–806, 2011. © 2011 Wiley‐Liss, Inc.