bluuebunny/crossref_metadata_2025 huggingface dataset:
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard‐of‐hearing infants
Authors: Palmer Christina G.S. , Martinez Ariadna , Fox Michelle , Zhou Jin , Shapiro Nina , Sininger Yvonne , Grody Wayne W. , Schimmenti Lisa A.
Published: May 2009

There are limited data on the impact of incorporating genetic counseling and testing into the newborn hearing screening process. We report on results from a prospective, longitudinal study to determine the impact of genetic counseling and GJB2/GJB6 genetic testing on parental knowledge, attitudes, and beliefs about genetic testing. One hundred thirty culturally hearing parents of 93 deaf or hard‐of‐hearing children ages 0–3 years primarily identified through newborn hearing screening received pre‐ and post‐test genetic counseling for GJB2 and GJB6. Parents completed questionnaires following pre‐test counseling, and 1‐ and 6‐month post‐test result disclosure. Results indicate that following pre‐test counseling all parents perceived benefits to genetic testing. While parents who received positive results continued to perceive benefits from testing, perceived benefit declined among parents who received inconclusive or negative results. Parents did not perceive genetic testing as harmful following pre‐test counseling or receipt of test results. Parents who received positive test results performed better in understanding recurrence and causation of their child's deafness and indicated greater interest in prenatal genetic testing than those who received inconclusive or negative test results. Parents felt that pediatricians and audiologists should inform parents of genetic testing availability; however, there was no consensus on timing of this discussion. Thus culturally hearing parents do not perceive genetic testing of their deaf or hard‐of‐hearing infants/toddlers as harmful; they feel that primary care providers should discuss genetic testing with them; and positive genetic test results with genetic counseling give rise to better understanding and perceived benefit than negative or inconclusive results. © 2009 Wiley‐Liss, Inc.
Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation
Authors: Bonnet C. , Leheup B. , Béri M. , Philippe C. , Grégoire M.‐J. , Jonveaux P.
Published: May 2009

Investigation of chromosomal rearrangements in patients with mental retardation (MR) is particularly informative in the search for novel genes involved in MR. We report on a family with a genomic duplication at Xq25 identified by oligo array‐CGH. Further characterization showed a partial tandem duplication of GRIA3 extending from exon 1 to exon 12. This duplication is present in two brothers with MR and on one allele in their sister with normal phenotype and completely skewed X‐chromosome inactivation. The duplication is inherited from the mother, whose cognitive level is low and X‐chromosome inactivation is random. This is the second family with partial duplication of GRIA3 associated with MR. GRIA3 expression studies in our case demonstrated a new mechanism for GRIA3 dysfunction with the presence of aberrant GRIA3 transcripts carrying multi‐exon duplications leading to a frameshift. Our study gives additional support to the implication of GRIA3 in X‐linked MR. © 2009 Wiley‐Liss, Inc.
Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome
Authors: Guimiot Fabien , Marcorelles Pascale , Aboura Azzedine , Bonyhay Georges , Patrier Sophie , Menez Françoise , Drouin‐Garraud Valérie , Icowick Valentine , Eurin Danièle , Garel Catherine , Moirot Hélène , Verspyck Eric , Saugier‐Veber Pascale , Attie‐Bitach Tania , Picone Olivier , Oury Jean François , Verloes Alain , Delezoide Anne Lise , Laquerrière Pr. Annie
Published: May 2009

An hypothalamic hamartoma is an abnormal mass of mature glio‐neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister–Hall syndrome (PHS), due to heterozygous GLI3 mutations. We report on five fetuses with giant diencephalic hamartoma and other midline brain and facial malformations, without mutation in the GLI3 gene or genomic rearrangements in three of them. The fetuses showed facial asymmetry, unilateral ear and eye anomalies, and facial cleft. Extracephalic malformations consisted of vertebral anomalies and short nails, without polydactyly and cardiac malformation. The diencephalon was replaced by an encephaloid mass protruding into the facial cleft. Normal cerebral structures were not detectable. In one patient, holoprosencephaly of the syntelencephalic type was noted. Arhinencephaly was present in all patients. Histologically, the ill‐defined, multilobulated lesion was made of neuroblastic and neurocytic cell foci, lying in a fibrillar network, elaborating sometimes perivascular pseudorosettes, with a maturation gradient in accordance with the fetal age. Owing to their location, the tumors could be described as diencephalic, rather than hypothalamic hamartomas. The striking asymmetry of the facial anomalies and the diencephalic malformations are not in the spectrum observed with PHS and related syndromes, suggesting a distinct entity involving abnormal morphogenetic developmental fields at around 5 weeks of gestation. © 2009 Wiley‐Liss, Inc.
Familial odontoid hypoplasia
Authors: Stevens Cathy A. , Pearce Richard G. , Burton Edward M.
Published: May 2009

Odontoid hypoplasia is a developmental abnormality, which is often asymptomatic. However significant sequelae can occur in some individuals, particularly after head or neck trauma. This anomaly is not generally known to be familial. We report on four affected individuals in the same family with odontoid hypoplasia, suggesting autosomal dominant inheritance. This is an important observation in that evaluation of family members is warranted in order to identify those at risk of neurologic compromise. © 2009 Wiley‐Liss, Inc.
Intracranial gene delivery of LV‐NAGLU vector corrects neuropathology in murine MPS IIIB
Authors: Di Domenico Carmela , Villani Guglielmo R.D. , Di Napoli Daniele , Nusco Edoardo , Calì Gaetano , Nitsch Lucio , Di Natale Paola
Published: May 2009

Mucopolysacccharidosis (MPS) IIIB is an inherited lysosomal storage disorder caused by the deficiency of alpha‐N‐acetylglucosaminidase (NAGLU). The disease is characterized by mild somatic features and severe neurological involvement with high mortality. Although several therapeutic approaches have been applied to the murine model of the disease, no effective therapy is available for patients. In this study, we used the lentiviral‐NAGLU vector to deliver the functional human NAGLU gene into the brain of young adult MPS IIIB mice. We report the restoration of active enzyme with a sustained expression throughout a large portion of the brain, and a significantly improved behavioral performance of treated animals. Moreover, we analyzed the effect of therapy on the expression profile of some genes related to neurotrophic signaling molecules and inflammatory cytokines previously found altered in MPS IIIB mice. At 1 month from treatment, the level of cerebellin 1 (Cbln1) was decreased while the brain‐derived neurotrophic factor (Bdnf) expression was increased, both reaching normal values. At 6 months from treatment a significant reduction in the expression of all the inflammation‐ and oxidative stress‐related genes was observed, as well as the maintenance of the correction of the Bdnf gene expression. These results indicate that NAGLU delivery from intracerebral sources has the capacity to alleviate most disease manifestations in MPS IIIB mice; furthermore, Bdnf might be a response‐to‐therapy biomarker for MPS IIIB. © 2009 Wiley‐Liss, Inc.
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Authors: Jiang Yong‐hui , Fang Ping , Adesina Adekunle M. , Furman Patricia , Johnston Jennifer J. , Biesecker Leslie G. , Brown Chester W.
Published: May 2009

Duchenne muscular dystrophy is an X‐linked condition at the severe end of the spectrum of dystrophinopathies. Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood. However, some girls can exhibit features of Duchenne muscular dystrophy because of skewed X‐inactivation, aneuploidy, or chromosomal rearrangement. Oculo‐facio‐cardio‐dental syndrome is a rare X‐linked disorder, lethal in males, that comprises microphthalmia, congenital cataracts, congenital heart defect, canine radiculomegaly, and digital anomalies. We report on a 7‐year‐old girl who was referred for muscular hypotonia, with clinical features of Duchenne muscular dystrophy, including elevated serum creatine phosphokinase, pseudohypertrophy of calf muscles, and muscle weakness, which became evident at 3 years of age. In addition, she had multiple congenital anomalies including atrial septal defect, cataracts, dental and digital anomalies, a constellation that suggested the diagnosis of oculo‐facio‐cardio‐dental syndrome, a condition caused by mutations in BCOR. Immunohistochemistry and Western blot analysis of muscle, and mutation analysis of DMD showed a maternally inherited deletion of exons 30–43, confirming the diagnosis of Duchenne muscular dystrophy. Studies of lymphocytes showed essentially complete skewing of X‐inactivation. Mutation analysis of BCOR revealed a de novo frameshift mutation (c.1005delC). Thus, we report for the first time on an individual with the co‐occurrence of Duchenne muscular dystrophy and oculo‐facio‐cardio‐dental syndrome. © 2009 Wiley‐Liss, Inc.
van den Ende–Gupta syndrome: Evidence for genetic heterogeneity
Authors: Leal Gabriela F. , Silva Elias O.
Published: May 2009

van den Ende–Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands and feet. Growth and development are normal. To date only 11 patients, from 8 families, have been described. Autosomal recessive inheritance has been accepted in this condition, supported by the presence of consanguinity in three families and the recurrence of the disorder within the offspring of unaffected couples. In this article we report on a kindred with three affected individuals, two brothers and their half‐sister, in which the van den Ende–Gupta syndrome is probably transmitted as an autosomal dominant trait in connection with gonadal mosaicism. © 2009 Wiley‐Liss, Inc.
Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations
Authors: Al‐Dirbashi O.Y. , Shaheen R. , Al‐Sayed M. , Al‐Dosari M. , Makhseed N. , Safieh L. Abu , Santa T. , Meyer B.F. , Shimozawa N. , Alkuraya F.S.
Published: May 2009

Peroxisomal biogenesis disorders represent a group of genetically heterogeneous conditions that have in common failure of proper peroxisomal assembly. Clinically, they are characterized by a spectrum of dysmorphia, neurological, liver, and other organ involvement. To date, mutations in 13 PEX genes encoding peroxins have been identified in patients with peroxisomal biogenesis disorders. Mutations in PEX13, which encodes peroxisomal membrane protein PEX13, are among the least common causes of peroxisomal biogenesis disorders with only three mutations reported so far. Here, we report on two infants whose clinical and biochemical profile was consistent with classical Zellweger syndrome and whose complementation analysis assigned them both to group H of peroxisomal biogenesis disorders. We show that they harbor two novel mutations in PEX13. One patient had a genomic rearrangement resulting in a 147 kb deletion that spans the whole of PEX13, while the other had an out‐of‐frame deletion of 14 bp. This represents the first report of a PEX13 deletion and suggests that further work is needed to examine the frequency of PEX13 mutations among Arab patients with peroxisomal biogenesis disorders. © 2009 Wiley‐Liss, Inc.
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split‐foot malformation and hearing loss
Authors: Saitsu Hirotomo , Kurosawa Kenji , Kawara Hiroki , Eguchi Maki , Mizuguchi Takeshi , Harada Naoki , Kaname Tadashi , Kano Hiroki , Miyake Noriko , Toda Tatsushi , Matsumoto Naomichi
Published: May 2009

We report on complex rearrangements of the 7q21.3 region in a female patient with bilateral split‐foot malformation and hearing loss. G‐banding karyotype was 46,XX,t(7;15)(q21;q15),t(9;14)(q21;q11.2)dn. By fluorescence, in situ hybridization (FISH), Southern hybridization, and inverse PCR, the 7q21.3 translocation breakpoint was determined at the nucleotide level. The breakpoint did not disrupt any genes, but was mapped to 38‐kb telomeric to the DSS1 gene, and 258‐ and 272‐kb centromeric to the DLX6 and DLX5 genes, respectively. It remains possible that the translocation would disrupt the interaction between these genes and their regulatory elements. Interestingly, microarray analysis also revealed an interstitial deletion close to (but not continuous to) the 7q21.3 breakpoint, indicating complex rearrangements within the split‐hand/foot malformation 1 (SHFM1) locus in this patient. Furthermore, a 4.6‐Mb deletion at 15q21.1‐q21.2 adjacent to the 15q15 breakpoint was also identified. Cloning of the deletion junction at 7q21.3 revealed that the 0.8‐Mb deletion was located 750‐kb telomeric to the translocation breakpoint, encompassing TAC1, ASNS, OCM, and a part of LMTK2. Because TAC1, ASNS, and OCM genes were located on the reported copy number variation regions, it was less likely that the three genes were related to the split‐foot malformation. LMTK2 appeared to be a potential candidate gene for SHFM1, but no LMTK2 mutations were found in 29 individuals with SHFM. Further LMTK2 analysis of SHFM patients together with hearing loss is warranted. © 2009 Wiley‐Liss, Inc.
Thanatophoric dysplasia caused by double missense FGFR3 mutations
Authors: Pannier Stéphanie , Martinovic Jelena , Heuertz Solange , Delezoide Anne‐Lise , Munnich Arnold , Schibler Laurent , Serre Valérie , Legeai‐Mallet Laurence
Published: May 2009

Thanatophoric dysplasia is a lethal chondrodysplasia caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Mutations have been identified in several domains of the receptor. The most frequent mutations (p.R248C, p.S249C, p.Y373C) create a cysteine residue within the extracellular domain, whereas the others eliminate the termination codon (p.X807R, p.X807C, p.X807G, p.X807S, p.X807W). Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. The p.N540K mutation is associated with 60% of patients with hypochondroplasia and the p.Q485R mutation is a novel mutation located in a highly conserved domain of FGFRs. Evidence for the structural impact of the two concurrent missense mutations was achieved using protein alignments and three‐dimensional structural prediction, in agreement with our modeling of the FGFR3 structure. In this patient with thanatophoric dysplasia, we conclude that the presence of the double FGFR3 missense mutation on the same allele alters the receptor structure, holding the receptor in its fully activated state, thus leading to lethal chondrodysplasia. © 2009 Wiley‐Liss, Inc.
Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review
Authors: Griffith Christopher B. , Vance Gail H. , Weaver David D.
Published: May 2009

Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two children with trisomy 13 mosaicism and summarize the literature in 47 published cases. Our first patient is a 4‐year‐old male with normal development and dysmorphic features that include right microtia, tall forehead, bulbous nose, and high arched palate. The second patient died at 1 day of life secondary to laryngeal stenosis, a previously undocumented finding in trisomy 13. His other dysmorphic features included micrognathia, cleft soft palate, and an axillary pterygium. Several published case reports of patients with trisomy 13 mosaicism have had the typical phenotype of complete trisomy 13 with death in the neonatal period, while others have had few dysmorphic features and prolonged survival. The most common malformations in all 49 cases included ear anomalies, cleft lip and palate, and various congenital heart defects. Intelligence varied from normal in six patients to significant delays and mental retardation in the remainder of cases. There is no clear correlation between the percentage of trisomic cells and the level of intellectual function. The dysmorphic features seen vary considerably from one patient to the next, often making the clinical diagnosis of trisomy 13 mosaicism difficult. In counseling families, medical professionals should state that trisomy 13 mosaicism may lead to physical abnormalities and poor intellectual outcomes, but that the condition does not do so universally with normal development occurring in some individuals. © 2009 Wiley‐Liss, Inc.
Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome
Authors: Paskulin Giorgio A. , Riegel Mariluce , Cotter Philip D. , Kiss Andrea , Rosa Rafael F.M. , Zen Paulo R.G. , Mombach Rômulo , Graziadio Carla
Published: May 2009

We report on a 4‐year‐old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG‐banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole‐genome array comparative genomic hybridization (array‐CGH) identified a duplication of the region 4p13 → 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 → p16.3::p16.3 → qter). The clinical features of our patient differed from those typically observed in Wolf–Hirschhorn syndrome and were more compatible with duplication 4(p14 → p16.3), with preservation of the WHS critical region. © 2009 Wiley‐Liss, Inc.
Bigger than a breadbox; lighter than a heavy heart
Authors: Hill Robert V.
Published: May 2009

Inexact measurements can have devastating effects in sciences where precision is of paramount importance. In contrast, morphological sciences rely heavily on description, comparison, and estimation to make meaningful inferences about the structure of humans and other animals. A review of the 1918 edition of Gray's Anatomy shows that the tendency to approximate was as marked nearly a century ago as it is today. Occasionally, objects of comparison may themselves become obsolete, necessitating changes in descriptive terminology. Anat Sci Ed 2:135‐136, 2009 © 2009 American Association of Anatomists.
Frequency in usage of FCAT‐approved anatomical terms by North American anatomists
Authors: Martin Bradford D. , Thorpe Donna , Barnes Richard , DeLeon Michael , Hill Douglas
Published: May 2009

It has been 10 years since the Federative Committee on Anatomical Terminology (FCAT) published Terminologia Anatomica (TA), the current authority on anatomical nomenclature. There exists a perceived lack of unity among anatomists to adopt many FCAT recommended anatomical terms in TA. An e‐mail survey was sent to members of the American Association of Anatomists (AAA) to determine the frequency of FCAT term usage by North American anatomists. The survey consisted of 29 questions, including 25 different sets of synonymic names for selected gross anatomical structures or related terms. Overall results indicate that the FCAT preferred term had the highest frequency of usage in only 44.0% of the survey questions. As frequency of use of FCAT terms decreased, the corresponding frequency of use of non‐FCAT terms increased. Some questions showed almost complete compliance with the FCAT preferred terms (highest = 98.4% usage) to almost complete disregard for the FCAT terms (lowest = 0.8% usage). A slight association (P = 0.06) may exist between FCAT familiarity and concern for usage of synonymic terms. The more familiar anatomists were with the FCAT, the more concerned they were with anatomic synonyms. Anat Sci Ed 2:94‐106, 2009. © 2009 American Association of Anatomists.
Highly Ordered Mesoporous Carbon as Catalyst for Oxidative Dehydrogenation of Ethylbenzene to Styrene
Authors: Su Dang Sheng , Delgado Juan Jose , Liu Xi , Wang Di , Schlögl Robert , Wang Lifeng , Zhang Zhe , Shan Zhichao , Xiao Feng‐Shou
Published: May 2009

Highly active, selective, and stable: Highly ordered mesoporous carbon without deposition of metal particles catalyzes the oxidative dehydrogenation of ethyl benzene to styrene. A high activity and selectivity as well as long catalytic stability when compared with activated carbon, is observed from this catalyst.

magnified image

We demonstrate that mesoporous carbon without deposition of metal particles is a highly active catalyst. It exhibits both high activity and selectivity in oxidative dehydrogenation of ethylbenzene to styrene, as well as long catalytic stability when compared with activated carbon. Both the as‐prepared mesoporous carbon and the active coke formed during the initial stage of the reaction play an important role in the catalytic performance. XPS and IR techniques reveal that the surface oxygen functional groups formed during the reaction are the active sites for the reaction. The ordered mesoporous structure is beneficial for mass transport in catalytic reaction exhibiting long term stability in contrast to activated carbon.
Social representations of refugees: Place of origin as a delineating resource
Authors: Hanson‐Easey Scott , Moloney Gail
Published: May 2009

This study investigated social understandings of refugees from Africa in a regional town in NSW, Australia. Drawing from Social Representations Theory (Moscovici, 1984), the study investigated whether place of origin (Africa) mediated understandings held about refugees. Two studies were conducted. In the first study, a between‐subjects manipulation using word association tasks revealed that the super‐ordinate term Refugees, and Refugees from Africa shared a common core of elements (poor, war). Although sharing a core, these representations were differentiated by peripheral elements which concurred with social understanding of Africa (e.g. disease), and media portrayal of refugees/asylum seekers (e.g. boat). The salience of these meanings in the community was further explored using a self‐report questionnaire. Results suggested that place of origin, manifested as peripheral representational elements, may play an important role in differentiating, orientating and linking specific refugee groups to particular socio‐political contexts. Further, we contend that place of origin may be understood as a discursive resource, deployed for rhetorical ends. Copyright © 2009 John Wiley & Sons, Ltd.
Reactivation and Reuse of a Hydrotreating Spent Catalyst for Cyclohexene Conversion
Authors: Ahmed H. S. , Menoufy M. F.
Published: May 2009

A comparative study has been made on the efficiency of leaching, using different concentrations of oxidized oxalic acid, and thermally treating techniques to reactivate a Ni‐Mo‐spent hydrotreating catalyst. The reactivation of the treated catalysts was performed in a pulse microcatalytic reactor under atmospheric pressure of hydrogen and reaction temperatures ranging from 250 °C to 450 °C using cyclohexene as model hydrocarbon. The studies revealed that a decoking spent catalyst after leaching using a low concentration (2 %) enhanced its physical characteristics (surface area and average pore diameter) and catalytic activity towards maximum cyclohexene hydrogenation and hydroisomerization reactions at 300 °C and 350 °C, respectively.
Magnetostructural Correlations in Tetrairon(III) Single‐Molecule Magnets
Authors: Gregoli Luisa , Danieli Chiara , Barra Anne‐Laure , Neugebauer Petr , Pellegrino Giovanna , Poneti Giordano , Sessoli Roberta , Cornia Andrea
Published: May 2009

Tunable single‐molecule magnets: The spin‐level landscape in a series of FeIII4 single‐molecule magnets with propeller‐like structure was analyzed by means of high‐frequency EPR spectroscopy. The zero‐field splitting parameter D of the ground S=5 spin state correlates strongly with the pitch of the propeller γ (see picture), and thus provides a simple link between molecular structure and magnetic behavior.

magnified image

We report three novel tetrairon(III) single‐molecule magnets with formula [Fe4(L)2(dpm)6] (Hdpm=2,2,6,6‐tetramethylheptane‐3,5‐dione), prepared by using pentaerythritol monoether ligands H3L=R′OCH2C(CH2OH)3 with R′=allyl (1), (R,S)‐2‐methyl‐1‐butyl (2), and (S)‐2‐methyl‐1‐butyl (3), along with a new crystal phase of the complex containing H3L=11‐(acetylthio)‐2,2‐bis(hydroxymethyl)‐ undecan‐1‐ol (4). High‐frequency EPR (HF‐EPR) spectra at low temperature were collected on powder samples in order to determine the zero‐field splitting (zfs) parameters in the ground S=5 spin state. In 1–4 and in other eight isostructural compounds previously reported, a remarkable correlation is found between the axial zfs parameter D and the pitch γ of the propeller‐like structure. The relationship is directly demonstrated by 1, which features both structurally and magnetically inequivalent molecules in the crystal. The dynamics of magnetization has been investigated by ac susceptometry, and the results analyzed by master‐matrix calculations. The large rhombicities of 2 and 3 were found to be responsible for the fast magnetic relaxation observed in the two compounds. However, complex 3 shows an additional faster relaxation mechanism which is unaccounted for by the set of spin Hamiltonian parameters determined by HF‐EPR.
Using the stereotype content model to examine group depictions in Fascism: An archival approach
Authors: Durante Federica , Volpato Chiara , Fiske Susan T.
Published: May 2009

The Stereotype Content Model (SCM) suggests potentially universal intergroup depictions. If universal, they should apply across history in archival data. Bridging this gap, we examined social groups descriptions during Italy's Fascist era. In Study 1, articles published in a Fascist magazine—La Difesa della Razza—were content analyzed, and results submitted to correspondence analysis. Admiration prejudice depicted ingroups; envious and contemptuous prejudices depicted specific outgroups, generally in line with SCM predictions. No paternalistic prejudice appeared; historical reasons might explain this finding. Results also fit the recently developed BIAS Map of behavioral consequences. In Study 2, ninety‐six undergraduates rated the content‐analysis traits on warmth and competence, without knowing their origin. They corroborated SCM's interpretations of the archival data. Copyright © 2009 John Wiley & Sons, Ltd.
The effect of essentialism in settings of historic intergroup atrocities
Authors: Zagefka Hanna , Pehrson Samuel , Mole Richard C. M. , Chan Eva
Published: May 2009

Three studies tested the effects of essentialist beliefs regarding the national ingroup in situations where a perpetrator group has inflicted harm on a victim group. For members of the perpetrator group, it was hypothesised that ‘essentialism’ has a direct positive association with ‘collective guilt’ felt as a result of misdeeds conducted by other ingroup members in the past. Simultaneously, it was hypothesised to have an indirect negative association with collective guilt, mediated by perceived threat to the ingroup. Considering these indirect and direct effects jointly, it was hypothesised that the negative indirect effect suppresses the direct positive effect, and that the latter would only emerge if perceived ‘ingroup threat’ was controlled for. This was tested in a survey conducted in Latvia among Russians (N = 70) and their feelings toward how Russians had treated ethnic Latvians during the Soviet occupation; and in a survey in Germany among Germans (N = 84), focussing on their feelings toward the Holocaust. For members of the victim group, it was hypothesised that essentialism would be associated with more anger and reluctance to forgive past events inflicted on other ingroup members. It was proposed that this effect would be mediated by feeling connected to the ingroup victims. This was tested in a survey conducted among Hong Kong Chinese and their feelings toward the Japanese and the Nanjing massacre (N = 56). Results from all three studies supported the hypotheses. Copyright © 2009 John Wiley & Sons, Ltd.
Model of twelve properties of a set of organic solvents with graph‐theoretical and/or experimental parameters
Authors: Pogliani Lionello
Published: May 2009

Twelve properties of a highly heterogeneous class of organic solvents have been modeled with a graph‐theoretical molecular connectivity modified (MC) method, which allows to encode the core electrons and the hydrogen atoms. The graph‐theoretical method uses the concepts of simple, general, and complete graphs, where these last types of graphs are used to encode the core electrons. The hydrogen atoms have been encoded by the aid of a graph‐theoretical perturbation parameter, which contributes to the definition of the valence delta, δv, a key parameter in molecular connectivity studies. The model of the twelve properties done with a stepwise search algorithm is always satisfactory, and it allows to check the influence of the hydrogen content of the solvent molecules on the choice of the type of descriptor. A similar argument holds for the influence of the halogen atoms on the type of core electron representation. In some cases the molar mass, and in a minor way, special “ad hoc” parameters have been used to improve the model. A very good model of the surface tension could be obtained by the aid of five experimental parameters. A mixed model method based on experimental parameters plus molecular connectivity indices achieved, instead, to consistently improve the model quality of five properties. To underline is the importance of the boiling point temperatures as descriptors in these last two model methodologies. © 2009 Wiley Periodicals, Inc. J Comput Chem 2010
Egg sac silk of Theridiosoma gemmosum (Araneae: Theridiosomatidae)
Authors: Hajer Jaromír , Malý Jan , Hrubá Lenka , Řeháková Dana
Published: May 2009

Cocoons of Theridiosoma gemmosum consist of two main parts, the egg sac case and the stalk. The inner space of the egg sac case is filled with nonsticky flocculent silk. Measuring 600–800 nm in diameter, the flocculent threads are never made up of bundles of longitudinally oriented nanofibrils. The egg case wall consists of a lower layer of highly ordered threads and an upper layer of cover silk. The lower, permanently white layer consists of threads in a mesh‐like arrangement, the thicker threads being 4–6 μm and the thinner threads being 2–3 μm in diameter. Each thread is a bundle of parallel nanofibrils, with a diameter between 150 and 300 nm. The silk secretions of these fibers, emitted from spigots, are processed by legs. The upper layer of the egg case is applied to the threads of the lower layer by direct rubbing against its surface, i.e. without the use of legs. In the lower and middle part of the egg case, the accumulated secretion forms a virtually compact encrustation, whereas in the upper, conically shaped, part of the egg case where it becomes the stalk, this secretion becomes substantially scarcer. The stalk is a continuation of the egg case, its proximal part made of fibers similar to those forming the inner layer of the egg case wall. The distal part of the stalk continues towards the suspension area either as a compact bundle of parallel fibers, or the stalk forks into two bundles of roughly the same thickness, which continue towards the suspension area separately. On the surface of objects onto which cocoons are attached, the secretion of the piriform glands acts as an adhesive sheet. J. Morphol. 2009. © 2009 Wiley‐Liss, Inc.
Histological and ultrastructural aspects of the nasal complex in the harbour porpoise, Phocoena phocoena
Authors: Prahl Susanne , Huggenberger Stefan , Schliemann Harald
Published: May 2009

During the evolution of odontocetes, the nasal complex was modified into a complicated system of passages and diverticulae. It is generally accepted that these are essential structures for nasal sound production. However, the mechanism of sound generation and the functional significance of the epicranial nasal complex are not fully understood. We have studied the epicranial structures of harbor porpoises (Phocoena phocoena) using light and electron microscopy with special consideration of the nasal diverticulae, the phonic lips and dorsal bursae, the proposed center of nasal sound generation. The lining of the epicranial respiratory tract with associated diverticulae is consistently composed of a stratified squamous epithelium with incomplete keratinization and irregular pigmentation. It consists of a stratum basale and a stratum spinosum that transforms apically into a stratum externum. The epithelium of the phonic lips comprises 70–80 layers of extremely flattened cells, i.e., four times more layers than in the remaining epicranial air spaces. This alignment and the increased number of desmosomes surrounding each cell indicate a conspicuous rigid quality of the epithelium. The area surrounding the phonic lips and adjacent fat bodies exhibits a high density of mechanoreceptors, possibly perceiving pressure differentials and vibrations. Mechanoreceptors with few layers and with perineural capsules directly subepithelial of the phonic lips can be distinguished from larger, multi‐layered mechanoreceptors without perineural capsules in the periphery of the dorsal bursae. A blade‐like elastin body at the caudal wall of the epicranial respiratory tract may act as antagonist of the musculature that moves the blowhole ligament. Bursal cartilages exist in the developmental stages from fetus through juvenile and could not be verified in adults. These histological results support the hypothesis of nasal sound generation for the harbor porpoise and display specific adaptations of the echolocating system in this species. J. Morphol. 2009. © 2009 Wiley‐Liss, Inc.
Fragmentation of deprotonated cyclic dipeptides by electrospray ionization mass spectrometry
Authors: Guo Yanchun , Cao Shuxia , Wei Donghui , Zong Xiangkun , Yuan Xingbo , Tang Mingsheng , Zhao Yufen
Published: May 2009

The fragmentation pathways of deprotonated cyclic dipeptides have been studied by electrospray ionization multi‐stage mass spectrometry (ESI‐MSn) in negative mode. The results showed that the fragmentation pathways of deprotonated cyclic dipeptides depended significantly on the different substituents, the side chains of amino acid residues at the diketopiperazine ring. In the spectra of deprotonated cyclic dipeptides, the ion [MHsubstituent radical]− was firstly observed in the ESI mode. The characteristic fragment ions [MHsubstituent radical]− and [MH(substituentH)]− could be used as the symbols of particular cyclic dipeptides. The hydrogen/deuterium (H/D) exchange experiment, the high‐resolution mass spectrometry (Q‐TOF) and theoretical calculations were used to rationalize the proposed fragmentation pathways and to verify the differences between the fragmentation pathways. The relative Gibbs free energies (ΔG) of the product ions and possible fragmentation pathways were estimated using the B3LYP/6–31++G(d, p) model. The results have some potential applications in the structural elucidation and interpretation of the mass spectra of homologous compounds and will enrich the gas‐phase ESI‐MS ion chemistry of cyclic dipeptides. Copyright © 2009 John Wiley & Sons, Ltd.
Magnetic resonance elastography in the liver at 3 Tesla using a second harmonic approach
Authors: Herzka D.A. , Kotys M.S. , Sinkus R. , Pettigrew R.I. , Gharib A.M.
Published: May 2009

Magnetic resonance elastography (MRE) using mechanical stimulation has demonstrated diagnostic value and clinical promise in breast, liver, and kidney at 1.5 Tesla (T). However, MRE at 1.5T suffers from long imaging times and would benefit from greater signal‐to‐noise for more robust postprocessing. We present an MRE sequence modified for liver imaging at 3.0T. To avoid artifacts in the phase images, the sequence maintains a short TE by using a second harmonic approach, including stronger motion encoding gradients, shorter radio frequency pulses and an echo‐planar readout. Scan time was decreased by a factor of ∼2 relative to 1.5T by using an EPI readout and a higher density sampling of the phase waveform was used to calculate shear stiffness and viscosity. Localized (small region of interest) and global (whole‐liver region of interest) measurements in normal healthy subjects compared very favorably with previously published results at 1.5T. There was no significant difference between global and localized measures. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.
Self‐refocused spatial‐spectral pulse for positive contrast imaging of cells labeled with SPIO nanoparticles
Authors: Balchandani Priti , Yamada Mayumi , Pauly John , Yang Phillip , Spielman Daniel
Published: May 2009

MRI has been used extensively to noninvasively track the location of cells labeled with superparamagnetic iron‐oxide nanoparticles (SPIOs) in vivo. Typically, SPIOs are employed as a negative contrast agent which makes it difficult to differentiate labeled cells from extraneous sources of inhomogeneity and actual voids in the image. As a result, several novel approaches have been put forth to obtain positive contrast from SPIOs. One technique proposed by Cunningham et al. utilizes spectrally selective pulses to excite and refocus spins in the vicinity of the SPIOs. Although the frequency selectivity of this technique provides effective positive contrast, the lack of slice selectivity results in interfering signal from sources of off‐resonance outside the slice of interest. We have developed a self‐refocused spatial‐spectral (SR‐SPSP) pulse to achieve slice‐selective spin‐echo imaging of off‐resonant spins. Using a self‐refocused pulse affords flexibility in echo‐time selection since the spin echo may be placed at any time after the end of the pulse. The spatial selectivity achieved by the SR‐SPSP RF pulse eliminates background signal from out‐of‐slice regions and reduces the on‐resonant water suppression requirements. Phantom and in vivo data demonstrate that positive contrast and slice‐selectivity are achieved using this novel RF pulse. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.
Cortical hypoperfusion in the B6.PS2APP mouse model for Alzheimer's disease: Comprehensive phenotyping of vascular and tissular parameters by MRI
Authors: Weidensteiner Claudia , Metzger Friedrich , Bohrmann Andreas Bruns Bernd , Kuennecke Basil , von Kienlin Markus
Published: May 2009

Function and morphology of the cerebral vasculature were studied in the amyloid (Aβ) plaque‐containing double‐transgenic (TG) B6.PS2APP Alzheimer's disease (AD) mouse model with MRI at an age range of 10 to 17 months. Perfusion, blood volume, and average vessel geometry were assessed in the brain and compared to age‐matched controls (wild‐type [WT] C57Bl/6). Additionally, the MR relaxation times T1, T2, and T were measured to detect potential pathological changes that might be associated with Aβ plaque depositions. Both decreased perfusion and decreased blood volume were observed in the occipital cortex in B6.PS2APP mice as compared to controls. A significant decrease in T1 and T2 was found in the frontal cortex and in the subiculum/parasubiculum. Immunohistochemistry confirmed plaque depositions in the cortex and in the subiculum/parasubiculum. In summary, our data indicate a reduced blood supply of B6.PS2APP mice in the occipital cortex that parallels the findings in cortical regions of patients with AD. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.
Multiple repetition time balanced steady‐state free precession imaging
Authors: Çukur Tolga , Nishimura Dwight G.
Published: May 2009

Although balanced steady‐state free precession (bSSFP) imaging yields high signal‐to‐noise ratio (SNR) efficiency, the bright lipid signal is often undesirable. The bSSFP spectrum can be shaped to suppress the fat signal with scan‐efficient alternating repetition time (ATR) bSSFP. However, the level of suppression is limited, and the pass‐band is narrow due to its nonuniform shape. A multiple repetition time (TR) bSSFP scheme is proposed that creates a broad stop‐band with a scan efficiency comparable with ATR‐SSFP. Furthermore, the pass‐band signal uniformity is improved, resulting in fewer shading/banding artifacts. When data acquisition occurs in more than a single TR within the multiple‐TR period, the echoes can be combined to significantly improve the level of suppression. The signal characteristics of the proposed technique were compared with bSSFP and ATR‐SSFP. The multiple‐TR method generates identical contrast to bSSFP, and achieves up to an order of magnitude higher stop‐band suppression than ATR‐SSFP. In vivo studies at 1.5 T and 3 T demonstrate the superior fat‐suppression performance of multiple‐TR bSSFP. Magn Reson Med 62:193–204, 2009. © 2009 Wiley‐Liss, Inc.
A new approach to analysis of the impulse response function (IRF) in dynamic contrast‐enhanced MRI (DCEMRI): A simulation study
Authors: Fan Xiaobing , Karczmar Gregory S.
Published: May 2009

The purpose of this research was to develop a novel numerical procedure to deconvolute the arterial input function (AIF) from contrast concentration vs. time curves and to obtain the impulse response functions (IRFs) from dynamic contrast‐enhanced MRI (DCEMRI) data. Numerical simulations were performed to study variations of contrast concentration vs. time curves and the corresponding IRFs. The simulated contrast media concentration curves were generated by varying the parameters of an empirical mathematical model (EMM) within reasonable ranges based on a previous experimental study. The AIF was calculated from plots of contrast media concentration vs. time in muscle under assumption that they are well approximated by the “two‐compartment model” (TCM). A general simple mathematical model of the IRF was developed, and the physiological meaning of the model parameters was determined by comparing them with the widely accepted TCM. The results demonstrate that the deconvolution procedure developed in this research is a simple, robust, and useful technique. In addition, “impulse response analysis” leads to the derivation of novel parameters relating to tumor vascular architecture, and these new parameters may have clinical utility. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.
A transmit/receive system for magnetic field monitoring of in vivo MRI
Authors: Barmet Christoph , De Zanche Nicola , Wilm Bertram J. , Pruessmann Klaas P.
Published: May 2009

Magnetic field monitoring with NMR probes has recently been introduced as a means of measuring the actual spatiotemporal magnetic field evolution during individual MR scans. Receive‐only NMR probes as used thus far for this purpose impose significant practical limitations due to radiofrequency (RF) interference with the actual MR experiment. In this work these limitations are overcome with a transmit/receive (T/R) monitoring system based on RF‐shielded NMR probes. The proposed system is largely autonomous and protected against RF contamination. As a consequence the field probes can be positioned freely and permit monitoring imaging procedures of arbitrary geometry and angulation. The T/R approach is also exploited to simplify probe manufacturing and remove constraints on material choices. Probe miniaturization permits monitoring imaging scans with nominal resolutions on the order of 400 μm. The added capabilities of the new probes and system are demonstrated by first in vivo results, obtained with monitored gradient‐echo and spin‐echo echo‐planar imaging (EPI) scans. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.
Quantification of cerebral blood flow, cerebral blood volume, and blood–brain‐barrier leakage with DCE‐MRI
Authors: Sourbron Steven , Ingrisch Michael , Siefert Axel , Reiser Maximilian , Herrmann Karin
Published: May 2009

Dynamic susceptibility contrast MRI (DSC‐MRI) is the current standard for the measurement of Cerebral Blood Flow (CBF) and Cerebral Blood Volume (CBV), but it is not suitable for the measurement of Extraction Flow (EF) and may not allow for absolute quantification. The objective of this study was to develop and evaluate a methodology to measure CBF, CBV, and EF from T1‐weighted dynamic contrast‐enhanced MRI (DCE‐MRI). A two‐compartment modeling approach was developed, which applies both to tissues with an intact and with a broken Blood‐Brain‐Barrier (BBB). The approach was evaluated using measurements in normal grey matter (GM) and white matter (WM) and in tumors of 15 patients. Accuracy and precision were estimated with simulations of normal brain tissue. All tumor and normal tissue curves were accurately fitted by the model. CBF (mL/100 mL/min) was 82 ± 21 in GM and 23 ± 14 in WM, CBV (mL/100 mL) was 2.6 ± 0.8 in GM and 1.3 ± 0.4 in WM. EF (mL/100 mL/min) was close to zero in GM (−0.009 ± 0.05) and WM (−0.03 ± 0.08). Simulations show an overlap between CBF values of WM and GM, which is eliminated when Contrast‐to‐Noise (CNR) is improved. The model provides a consistent description of tracer kinetics in all brain tissues, and an accurate assessment of perfusion and permeability in reference tissues. The measurement sequence requires optimization to improve CNR and the precision in the perfusion parameters. With this approach, DCE‐MRI presents a promising alternative to DSC‐MRI for quantitative bolus‐tracking in the brain. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.
Ultrashort TE imaging with off‐resonance saturation contrast (UTE‐OSC)
Authors: Du Jiang , Takahashi Atsushi M. , Bydder Mark , Chung Christine B. , Bydder Graeme M.
Published: May 2009

Short T2 species such as the Achilles tendon and cortical bone cannot be imaged with conventional MR sequences. They have a much broader absorption lineshape than long T2 species, therefore they are more sensitive to an appropriately placed off‐resonance irradiation. In this work, a technique termed ultrashort TE (UTE) with off‐resonance saturation contrast (UTE‐OSC) is proposed to image short T2 species. A high power saturation pulse was placed +1 to +2 kHz off the water peak to preferentially saturate signals from short T2 species, leaving long T2 water and fat signals largely unaffected. The subtraction of UTE images with and without an off‐resonance saturation pulse effectively suppresses long T2 water and fat signals, creating high contrast for short T2 species. The UTE‐OSC technique was validated on a phantom, and applied to bone samples and healthy volunteers on a clinical 3T scanner. High‐contrast images of the Achilles tendon and cortical bone were generated with a high contrast‐to‐noise ratio (CNR) of the order of 12 to 20 between short T2 and long T2 species within a total scan time of 4 to 10 min. Magn Reson Med, 2009. © 2009 Wiley‐Liss, Inc.