bluuebunny/crossref_metadata_2025_split huggingface dataset:
Technique for Achieving a Passive Framework Fit: A Clinical Case Report
Authors: Swallow Stephen T. 
Published: March 2004

Abstract
The clinical application of a 4-step technique for achieving the passive fit of an implant-supported cast bar or framework is reported. Implant-level transfers were attached, splinted intraorally with pattern resin, picked up in an open-tray elastomeric impression, and used to fabricate a working cast containing implant analogs. A light-cured template was used to verify master cast accuracy. A ceramometal fixed partial denture restoration was fabricated on the working cast with a preliminary try-in of the cast metal framework. A passive prosthesis fit was achieved. Failure to create an accurate working cast can distort the intended fit of a cast framework on the abutments in the patient's mouth. Optimal positioning of the implant analog in the master cast depends on (1) the transfer technique and (2) the ability of the system to maintain precise rotational orientation of the transfer components. The splinted transfer technique developed 20 years ago has sometimes been effective in improving the accuracy of framework fit with external hexagon implant-abutment connections, but it has not been documented with newer implant-abutment connections. Techniques for reestablishing master cast accuracy and correcting the superstructure are presented. The use of the presented technique resulted in a passive-fitting framework.
Young people's attitudes towards guns in America, Great Britain, and Western Australia
Authors: Cooke Claire Ann 
Published: March 2004

AbstractAttitudes of young people in the United States of America (n=145), Great Britain (n=177) and Western Australia (n=219), towards the possession and use of firearms were explored. These were measured on an Attitudes Toward Gun Scale [Branscombe et al., 1991 “A three factor scale of attitudes towards guns,” Aggr. Behav. 17:261], with particular reference to its three underlying dimensions (rights, causes crime, and protects from crime). Findings on these three dimensions of the ATGS indicate American respondents to be in greatest favour of gun possession, scoring significantly higher than Australian and British respondents in the belief that it is a citizen's right to own a gun, and that guns provide protectionfrom crime. Australian and British respondents scored higher on items referring to the belief that guns stimulate crime. An additional item added to the scale by Cooke and Puddifoot [2000] concerning the right to carry concealed weapons gained little support from British, Australian, or American respondents. This, together with low mean scores by respondents from all nations on protection, questions the introduction of ‘gun‐carry’ laws in many states throughout the USA. Discussion centres upon the implications of such findings, and the usefulness for future research of a measure designed to explore why people own guns, choose to carry weapons, and keep guns in the home. Aggr. Behav. 30:93–104, 2004. © 2004 Wiley‐Liss, Inc.
“Female aggression” revisited: Variable‐ and person‐centered approaches to studying gender differences in different types of aggression
Authors: Salmivalli Christina , Kaukiainen Ari 
Published: March 2004

AbstractWe looked for evidence supporting the hypothesis that girls are more indirectly aggressive than boys by 1) comparing the average scores of girls and boys on the Direct Indirect Aggression Scales [Björkqvist et al., 1992b], and 2) by comparing the distributions of boys and girls in five cluster groups representing different ‘aggression profiles’, or combinations of values in physical, verbal, and indirect aggression. The subjects were 526 children in three separate age groups: 10, 12, and 14 years. While boys were, on average, both directly and indirectly more aggressive than girls, the cluster analysis revealed a group of highly aggressive adolescents whose use of aggression was predominantly indirect. The members of this cluster group (n=36) were all girls. Aggr. Behav. 30:158–163, 2004. © 2004 Wiley‐Liss, Inc.
Play fighting and real fighting: Using video playback methodology with young children
Authors: Smith Peter K. , Smees Rebecca , Pellegrini Anthony D. 
Published: March 2004

AbstractThis study develops a video playback methodology: children aged five to eight years viewed taped play fighting and real fighting bouts in which they were both participants and nonparticipants. Views of participants were also compared for immediate and delayed viewing. The methodology examines the criteria used to distinguish play fighting and real fighting; views concerning the characteristics of such episodes; and the motivations involved. The methodology was found to be feasible at this age; and useful in terms of differing views of participants and nonparticipants. There was evidence for increased insight from participants, who used more criteria to make their judgments, and more informative criteria such as knowledge of the rules of a game being played. Participant knowledge was most evident at the immediate viewings, but was partially retained one week later. Participants (more than nonparticipants) mostly described play fighting as friendly, and not involving hurt or showing off. The methodology could usefully be applied to examine further developmental changes in older children. Aggr. Behav. 30:164–173, 2004. © 2004 Wiley‐Liss, Inc.
Anger management therapy with young male offenders: An evaluation of treatment outcome
Authors: Ireland Jane L. 
Published: March 2004

AbstractThe aim of the present study was to assess the effectiveness of a brief group‐based anger management intervention with young male offenders. Eighty‐seven prisoners were assessed as suitable for the intervention. Fifty of these made up the experimental group and 37 the control. Prior to intervention prisoners completed a self‐report anger questionnaire (Anger Management Assessment questionnaire: AMA). Prisoners were also assessed by officers on a checklist addressing angry behaviour (Wing Behaviour Checklist: WBC). Both measures were completed approximately two weeks before the date of the intervention and eight weeks after the intervention (and while the control group remained on the waiting list). It was predicted that the experimental group would show significant improvements in both measures following intervention and that no such change would be observed in the control group. This hypothesis was supported, with significant improvements observed in the experimental group and no change observed in the control. Aggr. Behav. 30:174–185, 2004. © 2004 Wiley‐Liss, Inc.
Blind MIMO equalization with optimum delay using independent component analysis
Authors: Zarzoso Vicente , Nandi Asoke K. 
Published: March 2004

AbstractBlind space–time equalization of multiuser time‐dispersive digital communication channels consists of recovering the users' simultaneously transmitted data free from the interference caused by each other and the propagation effects, without using training sequences. In scenarios composed of mutually independent non‐Gaussian i.i.d. users' signals, independent component analysis (ICA) techniques based on higher‐order statistics can be employed to refine the performance of conventional linear detectors, as recently shown in a code division multiple access environment (Signal Process2002;82:417–431). This paper extends these results to the more general multi‐input multi‐output (MIMO) channel model, with the minimum mean square error (MMSE) as conventional equalization criterion. The time diversity introduced by the wideband multipath channel enables a reduction of the computational complexity of the ICA post‐processing stage while further improving performance. In addition, the ICA‐based detector can be tuned to extract each user's signal at the delay which provides the best MMSE. Experiments in a variety of simulation conditions demonstrate the benefits of ICA‐assisted MIMO equalization. Copyright © 2004 John Wiley & Sons, Ltd.
Audio source separation: solutions and problems
Authors: Mitianoudis Nikolaos , Davies Mike E. 
Published: March 2004

AbstractThe problem of separating out a number of audio sources observed from an array of microphones in a real room environment has received a great deal of attention in the past decade. While there are now a number of workable methods that can even deal with relatively high reverberation (IEEE Trans Audio Speech Process, 2003;11:489–497), a number of interesting problems still remain. In this paper, the authors review the methods based aroundindependent component analysis, discussing the various choices available in algorithm design. We then explore the issue of sensitivity to speaker movement which appears to impose fundamental limitations on BSS performance. Copyright © 2004 John Wiley & Sons, Ltd.
Congenital diaphragmatic hernia: Is 15q26.1‐26.2 a candidate locus?
Authors: Biggio Joseph R. , Descartes Maria D. , Carroll Andrew J. , Holt R. Lynn 
Published: March 2004

AbstractCongenital diaphragmatic hernia is a developmental abnormality due to failure of the normal formation of the diaphragm. While the majority of cases are idiopathic, chromosomal abnormalities have been implicated in approximately 15% of cases. Several recent series have suggested that 15q24‐26 is critical in normal development of the diaphragm. We present a patient with a karyotype of 46, XX, del (15)(q26.1) born with a diaphragmatic hernia, coarctation of the aorta, and dysmorphic features. This patient represents the smallest isolated chromosomal aberration on distal 15q reported to date. The DNA regulatory proteins, myocyte‐specific enhancer factor 2 proteins (MEF2), play a critical role in the control of muscle differentiation and development. One member of this gene family, MEF2A, maps to 15q26. We propose that this region is a candidate locus for diaphragmatic hernia and future investigations should examine the role of MEF2A in diaphragm formation. © 2003 Wiley‐Liss, Inc.
Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q
Authors: Giuffrè Mario , Placa Simona La , Carta Maurizio , Cataliotti Antonella , Marino Maria , Piccione Maria , Pusateri Francesco , Meli Ferdinando , Corsello Giovanni 
Published: March 2004

AbstractWe report a newborn girl with a de novo terminal 4q deletion (q31.3 → qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium‐sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q. © 2003 Wiley‐Liss, Inc.
Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero
Authors: Kammoun Fatma , Tanguy Alain , Boesplug‐Tanguy Odile , Bensahel Henri , Khouri Nejib , Landrieu Pierre 
Published: March 2004

AbstractClub foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid‐gestation, strongly suggests that a similar mechanism occured in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved. © 2003 Wiley‐Liss, Inc.
Phenotypical variation in cousins with the identical partial trisomy 9 (pter‐q22.2) and 7 (q35‐qter) at 16 and 23 weeks gestation
Authors: Metzke‐Heidemann S. , Kuhling‐von Kaisenberg H. , Caliebe A. , Janssen D. , Jonat W. , Grote W. , von Kaisenberg C.S. 
Published: March 2004

AbstractFrom the study of numerical and structural chromosomal abnormalities, there is convincing evidence and accumulating information of a direct karyotype to phenotype correlation. Knowledge of phenotypic consequences of a specific chromosomal imbalance is important for genetic counseling and prenatal diagnosis. However, for unbalanced non‐Robertsonian translocations a precise karyotype to phenotype correlation is difficult to predict for several reasons: (I) unbalanced non‐Robertsonian translocations are rare, (II) the published case reports are often not age‐matched, (III) varying breakpoints result in different lengths of the monosomic and trisomic segments and therefore the phenotype will depend on additional genes present or the loss of coding regions, and (IV) the combination of the same trisomy with different monosomies, or vice versa, can result in diverging phenotypes. Therefore, the study of the karyotype to phenotype correlation in affected relatives of the same age and the identical unbalanced translocation provides a good model to investigate phenotypic consequences of a specific genetic imbalance. We report of two second trimester fetuses with the identical major partial trisomy 9 (9pter‐9q22.2) and minor partial trisomy 7 (q35‐qter) resulting from a familial translocation (7;9)(q35;q22.2)mat. One fetus presented with a Dandy–Walker malformation, polymicrogyria, and mild dysmorphic features, whereas the other fetus showed unilateral cleft lip and palate without cerebral anomalies. Potential mechanisms for this different phenotypic expression of the same unbalanced translocation resulting in partial trisomy 9 and 7 in the two cousins and possible consequences for genetic counseling and prenatal diagnosis are discussed. © 2003 Wiley‐Liss, Inc.
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different
Authors: Viot Géraldine , Sonigo Pascale , Simon Isabelle , Simon‐Bouy Brigitte , Chadeyron Frédéric , Beldjord Cherif , Tantau Julia , Martinovic Jelena , Esculpavit Chantal , Brunelle Francis , Munnich Arnold , Vekemans Michel , Encha‐Razavi Férechté 
Published: March 2004

AbstractIn type I or classical lissencephaly, two genetic causes, namely the LIS1 gene mapping at 17p13.3 and the DCX (doublecortin on X) gene mapping at Xq22.3 are involved. These are considered to act during corticogenesis on radial migratory pathways. The prevailing view is that heterozygous mutations in the LIS1 gene and hemizygous mutations in the DCX gene produce similar histological pattern. The present detailed neuropathological study in two unrelated fetuses with respectively a mutation in the LIS1 and the DCX genes do not confirm this view. In LIS1 mutation, the cortical ribbon displays a characteristic inverted organization, also called “four layered cortex” while in DCX mutation, the cortex displays a roughly ordered “six layered” lamination. Our hypothesis is that mutations of the LIS1 and DCX genes, may not affect the same neuronal arrangement in the neocortex. Because the pathology of proven XLIS is rarely documented, further detailed neuropathological analysis in other cases identified through molecular study would be of a great help in the recognition of neuronal population involved in these migrational disorders and their underlying molecular mechanism. © 2003 Wiley‐Liss, Inc.
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
Authors: Iacobazzi Vito , Pasquali Marzia , Singh Rani , Matern Dietrich , Rinaldo Piero , di San Filippo Cristina Amat , Palmieri Ferdinando , Longo Nicola 
Published: March 2004

AbstractDeficiency of carnitine/acylcarnitine translocase (CACT) is an autosomal recessive disorder of the carnitine cycle resulting in the inability to transfer fatty acids across the inner mitochondrial membrane. Only a limited number of affected patients have been reported and the effect of therapy on this condition is still not well defined. Here, we report a new patient with this disorder and follow the response to therapy. Our patient was the product of a consanguineous marriage. He presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe non‐ketotic hypoglycemia. Initial metabolic studies indicated severe non‐ketotic C6–C10 dicarboxylic aciduria, plasma carnitine deficiency, and a characteristic elevation of plasma C:16:0, C18:1, and C18:2 acylcarnitine species. Enzyme assay confirmed deficiency of CACT activity. Molecular studies indicated that this child was homozygous, and both parents heterozygous, for a single bp change converting glutamine 238 to arginine (Q238R). Therapy with a formula providing most of the fat via medium chain triglycerides (MCT) and carnitine supplementation reduced the concentration of long‐chain acylcarnitines and reversed cardiac symptoms and the hypoglycemia. These results suggest that carnitine and MCT may be effective in treating this defect of long‐chain fatty acid oxidation. © 2003 Wiley‐Liss, Inc.
UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis
Authors: Rapakko Katrin , Kokkonen Hannaleena , Leisti Jaakko 
Published: March 2004

AbstractAngelman syndrome (AS) is a neurogenetic disorder associated with a loss of maternal gene expression in chromosome region 15q11‐q13 due to either maternal deletion, paternal uniparental disomy (UPD), imprinting mutation, or mutation in the UBE3A gene. UBE3A encodes an ubiquitin‐protein ligase and shows brain‐specific imprinting. We have done conformation sensitive gel electrophoresis (CSGE) mutation analysis of the UBE3A coding region in nine AS patients, who had shown a normal biparental inheritance and methylation pattern of the 15q11‐q13. Disease‐causing mutations were identified in five of them: three deletions (1930delAG, 3093delAAGA) and two missense mutations (902A → C, 975T → C). Both deletions have also been detected in other AS patients, suggesting these sites may be prone to deletions in the UBE3A gene. All AS cases were sporadic, but a mosaicism for mutation 902A → C was present in a patient's mother. Screening for the UBE3A mutations in the AS patients was found useful both for the confirmation of diagnosis and genetic counseling. CSGE was found to be a sensitive and simple screening method for these mutations. © 2003 Wiley‐Liss, Inc.
Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism
Authors: Faivre Laurence , Merrer Martine Le , Douvier Serges , Laurent Nicole , Thauvin‐Robinet Christel , Rousseau Thierry , Vereecke Inge , Sagot Paul , Delezoide Anne‐Lise , Coucke Paul , Mortier Geert 
Published: March 2004

AbstractAchondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). Here we report on two pregnancies of a healthy, nonconsanguineous young couple. In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks' gestation. Clinical, radiological, and histological evaluation of the fetus after termination of the pregnancy showed typical findings of achondrogenesis type II. In the second pregnancy, fetal hygroma was noted at 11 weeks' gestation. Similar clinical, radiographic, and histologic findings were observed in the second fetus, suggesting the recurrence of achondrogenesis II within this family. Molecular analysis of genomic DNA extracted from amniotic cells of the second fetus revealed heterozygosity for a 1340G > A missense mutation (G316D) in the COL2A1 gene. This mutation was not found in the parents. Although, we could not evaluate the presence of this mutation in the first fetus, we strongly believe that our data are in favor of germline mosaicism as the most likely explanation for the recurrence of type II achondrogenesis in both sibs. © 2003 Wiley‐Liss, Inc.
9q34.3 deletion syndrome in three unrelated children
Authors: Iwakoshi Mie , Okamoto Nobuhiko , Harada Naoki , Nakamura Tsuyoshi , Yamamori Shunji , Fujita Hiroko , Niikawa Norio , Matsumoto Naomichi 
Published: March 2004

AbstractWe described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.3‐qter monosomy and 6p25‐pter trisomy. Common features among the three we studied and the other six patients with 9q34.3 deletions in the literature include microcephaly, mental retardation (MR), hypotonic, and epileptic seizures. Their facial characteristics included flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted nostrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome. © 2004 Wiley‐Liss, Inc.
A syndrome with multiple malformations, mental retardation, and ACTH deficiency
Authors: Kajantie Eero , Otonkoski Timo , Kivirikko Sirpa , Somer Mirja 
Published: March 2004

AbstractWe report on a patient with severe pre‐ and post‐natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age. Family history was negative. Adrenal insufficiency is an uncommon feature in multiple malformation syndromes and may thus serve as a diagnostic handle for recognizing other possible patients with a similar syndrome. © 2003 Wiley‐Liss, Inc.