bluuebunny/crossref_metadata_2025_split huggingface dataset:
The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy
Authors: Ruiter Jolien S. , Berkenbosch‐Nieuwhof Karin , van den Berg Maarten P. , van Dijk Rene , Middel Berrie , van Tintelen J. Peter 
Published: February 2010

AbstractIn potentially inherited cardiac diseases, the family history is of great importance. We looked at the way cardiologists take a family history in patients with idiopathic dilated cardiomyopathy (DCM) or long QT syndrome (LQTS) and whether this led to screening of relatives or other follow‐up. We performed retrospective cross‐sectional analyses of adult index patients with DCM or LQTS in a general hospital (GH) or a University Medical Center (UMC). We identified 82 index patients with DCM (34 GH; 48 UMC) and 20 with LQTS (all UMC) between 1996 and 2005. Mean follow‐up was 58 months. A family history was recorded in 90% of both LQTS and DCM patients most of the cases restricted to first‐degree family members. The genetic aspects, counseling and screening of family members was discussed significantly more often with LQTS than DCM patients (all P < 0.05). Also follow‐up (screening of family members, DNA analysis and referral) was performed significantly more often in LQTS than DCM patients. Cardiologists in the UMC referred DCM index patients for genetic counseling more often than those in the GH (25% vs. 6%; P < 0.05). Only a few index patients with DCM were referred to a clinical genetics department. One‐third of DCM cases and nearly all LQTS cases are familial. Since early recognition and treatment may reduce morbidity and mortality we recommend cardiologists take a more thorough family history and always consider referring to a clinical genetics department in such index patients. © 2010 Wiley‐Liss, Inc.
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency
Authors: Prando Carolina , Boisson‐Dupuis Stéphanie , Grant Audrey V. , Kong Xiao‐Fei , Bustamante Jacinta , Feinberg Jacqueline , Chapgier Ariane , Rose Yoann , Jannière Lucile , Rizzardi Elena , Zhang Qiuping , Shanahan Catherine M. , Viollet Louis , Lyonnet Stanislas , Abel Laurent , Ruga Ezia Maria , Casanova Jean‐Laurent 
Published: February 2010

AbstractMendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN‐γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features of a 7‐year‐old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necrotizing pneumonia caused by Rhodococcus equi. The child is homozygous for a nonsense mutation in exon 3 of IFNGR1 as a result of paternal uniparental disomy (UPD) of the entire chromosome 6. This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD. © 2010 Wiley‐Liss, Inc.
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Authors: Lugtenberg Dorien , Zangrande‐Vieira Luiz , Kirchhoff Maria , Whibley Annabel C. , Oudakker Astrid R. , Kjaergaard Susanne , Vianna‐Morgante Angela M. , Kleefstra Tjitske , Ruiter Mariken , Jehee Fernanda S. , Ullmann Reinhard , Schwartz Charles E. , Stratton Michael , Raymond F. Lucy , Veltman Joris A. , Vrijenhoek Terry , Pfundt Rolph , Schuurs‐Hoeijmakers Janneke H.M. , Hehir‐Kwa Jayne Y. , Froyen Guy , Chelly Jamel , Ropers Hans Hilger , Moraine Claude , Gècz Jozef , Knijnenburg Jeroen , Kant Sarina G. , Hamel Ben C.J. , Rosenberg Carla , van Bokhoven Hans , de Brouwer Arjan P.M. 
Published: February 2010

AbstractZNF630 is a member of the primate‐specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non‐allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6‐fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P‐value = 0.174). Conversely, a 1.9‐fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P‐value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. © 2010 Wiley‐Liss, Inc.
miRNA mutations are not a common cause of deafness
Authors: Hildebrand Michael S. , Witmer P. Dane , Xu Shunbin , Newton Stephen S. , Kahrizi Kimia , Najmabadi Hossein , Valle David , Smith Richard J.H. 
Published: February 2010

AbstractMutations in miRNA genes have been implicated in hearing loss in human families and mice. It is also possible that mutations in miRNA binding sites of inner ear targets alter gene expression levels and lead to hearing loss. To investigate these possibilities we screened predicted target genes of the miR‐183 miRNA cluster known to be expressed in the inner ear sensory epithelium. In one Iranian family segregating autosomal recessive non‐syndromic hearing loss (ARNSHL), we identified a homozygous variant in a predicted miR‐96/182 binding site in the 3′UTR of the RDX (DFNB24) gene. However, in vitro functional studies showed that this site is not a functional target for miR‐96/182. We extended our study to include the miR‐183 genes themselves and 24 additional predicted target genes of the miRNA‐183 cluster. Screening these miRNAs and target sequences in numerous families segregating either autosomal dominant non‐syndromic deafness (ADNSHL) or ARNSHL did not identify any potential deafness‐causing mutations. These results suggest that mutations disrupting gene regulation by the miR‐183 cluster are not a common cause of human hearing loss. © 2010 Wiley‐Liss, Inc.
Pulmonary function and emphysema in Williams–Beuren syndrome
Authors: Wan Emily S. , Pober Barbara R. , Washko George R. , Raby Benjamin A. , Silverman Edwin K. 
Published: February 2010

AbstractWilliams–Beuren syndrome (WBS) is caused by a submicroscopic deletion on chromosome 7q11.23 that encompasses the entire elastin (ELN) gene. Elastin, a key component of elastic fibers within the lung, is progressively destroyed in emphysema. Defects in the elastin gene have been associated with increased susceptibility towards developing chronic obstructive pulmonary disease (COPD) and emphysema in both humans and mice. We postulate that hemizygosity at the elastin gene locus may increase susceptibility towards the development of COPD and emphysema in subjects with WBS. We describe an adult subject with WBS who was a lifelong non‐smoker and was found to have moderate emphysema. We also examined the pulmonary function of a separate cohort of adolescents and young adults with WBS. Although no significant spirometric abnormalities were identified, a significant proportion of subjects reported respiratory symptoms. Thus, while significant obstructive disease does not appear to be common in relatively young adults with WBS, subclinical emphysema and lung disease may exist which possibly could worsen with advancing age. Further investigation may elucidate the pathogenesis of non‐smoking‐related emphysema. © 2010 Wiley‐Liss, Inc.
Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?
Authors: Girisha K.M. , Ganesh H.K. , Rao Lakshmi , Srilatha P.S. 
Published: February 2010

AbstractWe report on a 16‐month‐old girl with multiple swellings on her skull due to massive osteolysis, growth retardation, facial anomalies, and wrinkly skin with mosaic hypopigmentation. She also had severe hypercalcemia, which gradually returned to normal levels. The condition likely represents Gorham syndrome with systemic manifestations. © 2010 Wiley‐Liss, Inc.
Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas
Authors: Hunter Alasdair G.W. , Nezarati Marjan M. , Velsher Lea 
Published: February 2010

AbstractFacial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. They occur in up to 90% of persons with TS and 40–80% of individuals with MEN1. Early onset facial angiofibromas that are not associated with any other systemic sign appear to be unusual, and their occurrence can leave the clinician with some uncertainty as to their significance, as well as how to proceed. In this article we describe four patients with what appear to be isolated, bilateral facial angiofibromas. We discuss the significance of these lesions with respect to the conditions in which they have been seen, review prior reports of apparently isolated angiofibromas, and provide some rough calculations as to how likely it would be for an underlying systemic condition to be overlooked after different levels of investigation have been performed. We also look at some aspects of the financial cost/benefit ratio of further investigation of TS beyond a clinical examination. © 2010 Wiley‐Liss, Inc.
Vegetation correlates of gibbon density in the peat‐swamp forest of the Sabangau catchment, Central Kalimantan, Indonesia
Authors: Hamard Marie , Cheyne Susan M. , Nijman Vincent 
Published: February 2010

AbstractUnderstanding the complex relationship between primates and their habitats is essential for effective conservation plans. Peat‐swamp forest has recently been recognized as an important habitat for the Southern Bornean gibbon (Hylobates albibarbis), but information is scarce on the factors that link gibbon density to characteristics of this unique ecosystem. Our aims in this study were firstly to estimate gibbon density in different forest subtypes in a newly protected, secondary peat‐swamp forest in the Sabangau Catchment, Indonesia, and secondly to identify which vegetation characteristics correlate with gibbon density. Data collection was conducted in a 37.1 km2 area, using auditory sampling methods and vegetation “speed plotting”. Gibbon densities varied between survey sites from 1.39 to 3.92 groups/km2. Canopy cover, tree height, density of large trees and food availability were significantly correlated with gibbon density, identifying the preservation of tall trees and good canopy cover as a conservation priority for the gibbon population in the Sabangau forest. This survey indicates that selective logging, which specifically targets large trees and disrupts canopy cover, is likely to have adverse effects on gibbon populations in peat‐swamp forests, and calls for greater protection of these little studied ecosystems. Am. J. Primatol. 72:607–616, 2010. © 2010 Wiley‐Liss, Inc.
Human–nonhuman primate interactions amongst Tikuna people: perceptions and local initiatives for resource management in Amacayacu in the Colombian Amazon
Authors: Parathian Hannah E. , Maldonado Angela M. 
Published: February 2010

AbstractThis study assesses the impact of hunting on the densities of nonhuman primates in two indigenous Tikuna territories (Mocagua and San Martín), overlapping Amacayacu National Park in the Colombian Amazon. Large‐bodied primates were once favored prey by Tikunas, but are now rarely hunted owing to the diminishing primate populations. We evaluate the effect of a hunting ban on woolly monkeys (Lagothrix lagothricha) by the residents of Mocagua, using qualitative and quantitative methods. Hunting records showed that from February 2005 to February 2009, a total of 25,142 kg of mammal bushmeat were harvested in Mocagua and San Martín. Primates constituted 345 kg of the total harvest. From 223 kg of large‐bodied primates extracted for subsistence purposes, 160 kg were hunted in San Martín and 64 kg in Mocagua. Large‐bodied primates made up 70% of the total primate biomass in Mocagua (398 kg/km2) and 22% in San Martín (199 kg/km2). From dietary records, we found bushmeat constituted 30% of protein consumption in Mocagua and 37% in San Martín. Primates were absent in records from Mocagua, and appeared only three times in those from San Martín suggesting inconsistencies with hunting data. Despite its moderate consumption, bushmeat was identified as a highly valued food source during focus group activities. Primate pet‐keeping and part utilization were observed in San Martín but not in Mocagua, possibly as a consequence of fewer primates being hunted. We suggest that Mocagua provides an example of how community‐based conservation strategies can be achieved, where opportunities for employment in tourism and alternative food sources are available. Am. J. Primatol. 72:855–865, 2010. © 2010 Wiley‐Liss, Inc.
Peptidbasierte Verfahren zur Herstellung nanostrukturierter anorganischer Materialien
Authors: Chen Chun‐Long , Rosi Nathaniel L. 
Published: February 2010

AbstractMit ihrer einzigartigen sequenzspezifischen Selbstorganisation und der Fähigkeit zur Substraterkennung spielen Peptide in natürlichen Systemen eine entscheidende Rolle bei der Steuerung der Biomineralisation anorganischer Nanostrukturen und der Entstehung von Weichgewebe. Daher sind Peptide auch besonders wertvoll für die Herstellung neuer Materialien, und Forscher vieler Disziplinen bedienen sich heute dieser Moleküle, um die Synthese anorganischer Nanostrukturen und den Aufbau weicher Biomaterialien zu steuern. In diesem Aufsatz schildern wir die Entwicklungen auf diesem Gebiet, wobei unser spezielles Augenmerk der Fähigkeit von Peptiden gilt, die Zusammensetzung und Struktur neuer anorganischer Materialien zu steuern.
Thermal properties of graphite‐loaded nitrile rubber/poly(vinyl chloride) blends
Authors: Mansour S. A. , Al‐Ghoury M. E. , Shalaan E. , El Eraki M. H. I. , Abdel‐Bary E. M. 
Published: February 2010

AbstractThe thermal properties (thermal conductivity, thermal diffusivity, and specific heat capacity) of nitrile rubber (NBR)/poly(vinyl chloride) (PVC) blends were measured in the temperature range of 300–425 K. The incorporation of graphite into the NBR/PVC (30/70) matrix improved its thermal properties. Moreover, these properties slightly changed with the temperature. The thermal conductivity values of the prepared samples were compared with values modeled according to the Maxwell–Eucken, Cheng–Vachon, Lewis–Nielsen, geometric mean, and Agari–Uno models. The Agari–Uno model best predicted the effective thermal conductivity for the whole range of blend ratios and for the whole range of graphite contents in NBR/PVC (30/70)/graphite composites. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Morphology and thermal properties of maleic anhydride grafted polypropylene/ethylene–vinyl acetate copolymer/wood powder blend composites
Authors: Dikobe Dorine Geneth , Luyt Adriaan Stephanus 
Published: February 2010

AbstractMaleic anhydride grafted polypropylene (MAPP) was blended with ethylene–vinyl acetate (EVA) copolymer to form MAPP/EVA polymer blends. Wood powder (WP) was mixed into these blends at different weight fractions to form MAPP/EVA/WP blend composites. Differential scanning calorimetry (DSC) analysis of the blends showed small melting peaks between those of EVA and MAPP, which indicated interaction and cocrystallization of fractions of EVA and MAPP. The presence of MAPP influenced the EVA crystallization behavior, whereas the MAPP crystallization was not affected by the presence of EVA. Scanning electron microscopy, Fourier transform infrared spectroscopy, and DSC results show that the WP particles in the MAPP/EVA blend were in contact with both the MAPP and EVA phases and that there seemed to be chemical interaction between the different functional groups. This influenced the crystallization behavior, especially of the MAPP phase. The thermogravimetric analysis results show that the MAPP/EVA blend had two degradation steps. An increase in the WP content in the blend composite led to an increase in the onset of the second degradation step but a decrease in onset of the first degradation step. The presence of WP in the blend led to an increase in the modulus but had almost no influence on the tensile strength of the blend. The dynamic mechanical analysis results confirm the interaction between EVA and MAPP and show that the presence of WP only slightly influenced the dynamic mechanical properties. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Vibrational dynamics of gamma form of nylon 6 (γNY6)
Authors: Shukla Sandeep Kumar , Kumar Naresh , Tandon Poonam , Gupta Vishwambhar Dayal 
Published: February 2010

AbstractNormal mode analyses including phonon dispersion have been performed, to understand completely the spectra (Infrared/Raman) of (γNY6), using Wilson GF matrix method and Urey‐Bradley force field. Characteristic features of the dispersion curves such as repulsion and region of high density‐of‐states have been explained. Heat capacity measurements have been interpreted and the limitation of this work discussed. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Characterization of chemically modified wood fibers using FTIR spectroscopy for biocomposites
Authors: Gwon Jae Gyoung , Lee Sun Young , Doh Geum Hyun , Kim Jung Hyeun 
Published: February 2010

AbstractChemical modifications of wood fibers (Lignocel® C120) were performed for biocomposite applications, and chemically modified wood fibers were analyzed by FTIR spectroscopy. NaOH treatment showed band shifts from Cell‐I to Cell‐II in FTIR spectra from 2902 cm−1, 1425 cm−1, 1163 cm−1, 983 cm−1, and 897 cm−1 to 2894 cm−1, 1420 cm−1, 1161 cm−1, 993 cm−1, and 895 cm−1 and the change in peak height at 1111 cm−1 and 1059 cm−1 assigned for Cell‐I structure. Silane treatment showed peak changes at 1200 cm−1 assigned as SiOC band, at 765 cm−1 assigned as SiC symmetric stretching bond, at 700 cm−1 assigned as SiOSi symmetric stretching, and at 465 cm−1 assigned as SiOC asymmetric bending. Benzoyl treatment resulted in an increase in the carbonyl stretching absorption at 1723 cm−1 and in band characteristics of aromatic rings (1604 cm−1 and 710 cm−1) and a strong absorption at 1272 cm−1 for CO band in aromatic ring. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Creep rupture properties of homopolymer, copolymer, and terpolymer based on poly(oxymethylene)
Authors: Tajima Yoshihisa , Itoh Takahito 
Published: February 2010

AbstractPolyacetal copolymers were prepared by cationic ring‐opening copolymerizations of 1,3,5‐trioxane (TOX) with 1,3‐dioxolane (DOX), and polyacetal terpolymers were prepared by terpolymerizations of TOX, DOX, and 2‐ethylhexyl glycidyl ether (EHGE). Polyacetal polymers with three different structures such as polyacetal homopolymers, polyacetal copolymers, and polyacetal terpolymers were compared in the mechanical properties and the creep characteristics, and discussed from the view point of the polymer structure. The polyacetal copolymers and the polyacetal terpolymers were determined by 1H‐MNR measurement. About 80 mol % of DOX and EHGE amounts in feed were incorporated randomly into the each polymer. From the plots of the degree of crystallinity (Xc) versus the tensile strength, the tensile strength and crystallintiy of the polyacetal homopoymers are higher than those of the polyacetal copolymers and the polyacetal terpolymers. However, the tensile strength does not decrease linearly with a decrease in the crystallinity among the polyacetal polymers with three different structures, the polyacetal homopolymer, the polyacetal copolymers, and the polyacetal terpolymers. Creep rupture was characterized by the activation volume, υc, value in Zhurkov's equation, which can be estimated from the slope in the plots of load versus log (rupture time) at 80°C. The polyacetal polymers with higher molecular weight have larger values of the activation volume than those with lower molecular weight. When the activation volume values are compared among the polyacetal polymers with the same molecular weights, they increase in the following order: the polyacetal homopolymers < the polyacetal copolymers < polyacetal terpolymers. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Comparative investigation of the structure and properties of ferroelectric poly(vinylidene fluoride) and poly(vinylidene fluoride–trifluoroethylene) thin films crystallized on substrates
Authors: Chen Shuting , Yao Kui , Tay Francis Eng Hock , Chew Lydia Li Shan 
Published: February 2010

AbstractPoly(vinylidene fluoride) (PVDF) and copolymers of vinylidene fluoride and trifluoroethylene [P(VDF/TrFE)s] were deposited on silicon substrates, and their structure and properties were comparatively investigated. Compared to P(VDF/TrFE), which is the polymer material currently most dominant for ferroelectric thin‐film devices applications, our β‐phase PVDF homopolymer thin film demonstrated several advantages, such as higher dielectric breakdown strength, improved polarization fatigue endurance, and larger ferroelectric polarization at elevated temperatures with improved thermal stability. The reasons for the observed different characteristics between the PVDF and P(VDF/TrFE) thin films were analyzed on the basis of their different structures and morphologies. The results indicate that the low‐cost β‐phase PVDF homopolymer thin films have great potential as an alternative to P(VDF/TrFE) for ferroelectric and piezoelectric thin‐film‐device applications. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Fabrication and properties of superabsorbent complex gel beads composed of hydrolyzed polyacrylamide and chitosan
Authors: Cao Jie , Tan Yebang , Che Yuju , Ma Qiang 
Published: February 2010

AbstractA novel method for preparing complex beads composed of hydrolyzed polyacrylamide (HPAM) and chitosan, based on the electrostatic attraction between COO− of HPAM and Al3+ and between COO− and NH3+ of chitosan, was established. In the two‐stage crosslinking process, first Al3+ was used as a crosslinking agent for the crosslinking of HPAM molecules, which were used as the skeleton structure of the gel beads. In the second stage, chitosan diffused into the skeleton structure. The gel beads were characterized with scanning electron microscopy, inductively coupled plasma mass spectrometry, Fourier transform infrared spectroscopy, and thermogravimetric analysis. There was a chitosan component in the gel beads, and these gel beads had porous and rough surfaces. The swelling properties of the HPAM–chitosan gel beads were measured in water, in acidic, neutral, and alkaline buffers, and in different saline solutions. The swelling ratio was as high as 3675 g/g in water and 170 g/g in a 0.15 mol/L NaCl solution. The beads showed pH sensitivity in buffers of different pH values and salt sensitivity in different saline solutions. The order of the equilibrium absorbency of the gel beads in different saline solutions was Na+ > K+ > Mg2+ > Ca2+ > Al3+. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010