bluuebunny/crossref_metadata_2025 huggingface dataset:
Evaluating porcine RBC and platelet α‐galactosyl expression
Authors: MacLaren Leslie A. , Riggs Cherie M. , Johnstone James E. , Doucet Jay , McAlister Vivian C.
Published: October 2002

BACKGROUND : Naturally occurring human xenoreactive antibodies bind and agglutinate porcine RBCs.

STUDY DESIGN AND METHODS : To determine if xenoantigen expression on RBCs of individual pigs of different breeds and blood groups is variable, and if it correlates with platelet (PLT) expression, we measured adsorption of affinity‐purified antibodies to α‐galactosyl (αGal) by RBCs or PLTs from 22 pigs representing four breeds. Hemagglutination of RBCs from these pigs was also performed with pools of human group OAB, A, B, and AB sera, as well as with anti‐αGal‐depleted pooled OAB human serum.

RESULTS : There was significant variation in αGal expression on RBCs and PLTs among pigs. PLT αGal expression did not correlate with RBC αGal. RBCs from all pigs were agglutinated by pooled group O, AB, A, or B sera, whereas titers were reduced by 87 percent with anti‐αGal‐depleted serum and by 82 percent with AB sera from two volunteers. Agglutination titers were higher against RBCs from the five highest RBC αGal expressers compared with those from the five lowest RBC αGal expressers (92 ± 12 vs. >160, p < 0.05, where 160 was the maximum dilution tested).

CONCLUSION : Hemagglutination is a feasible alternative for rapid identification of pigs with RBCs carrying less αGal.
Teaching Collaboration: A Demonstration Model
Authors: Connolly Phyllis M. , Novak Jean M.
Published: October 2002

Teaching through collaboration models will greatly benefit future practitioners and professionals who intend to meet the needs of consumers, provide quality care, and be cost-effective. Clearly, the needs of people with psychiatric disabilities are complex and require the expertise of multiple professions; however, few opportunities exist for students to learn collaboration skills. The transdisciplinary collaboration project in San Jose, California, exemplifies teaching and learning opportunities for collaboration. Students and faculty from the disciplines of nursing, speech pathology, occupational therapy, social work, and recreational therapy were involved. Outcomes of the project are described.
Web-Based Information for Depression: Helpful or Hazardous?
Authors: Belcher Jan V. R. , Holdcraft Carol
Published: October 2002

The Internet cannot be underestimated as a source of information, including information for persons with depression and their families. The Internet is a resource for both persons who have not yet sought professional treatment and persons in treatment who augment professional therapy with their own research. Health care providers, including nurses, should explore this information medium because it may affect treatment of depression. To evaluate Web-based information, 25 graduate nursing students, enrolled in an informatics course, explored the Internet for information about depression. They found a wide array of Web sites focused on depression. Five levels of classification of Web sites related to depression evolved, ranging from helpful to hazardous.
Does the coronary risk factor low density lipoprotein alter growth and signaling in vascular smooth muscle cells?
Authors: Gouni‐Berthold Ioanna , Sachinidis Agapios
Published: October 2002

There is increasing evidence that hypertension promotes low density lipoprotein (LDL) transportation into the subendothelial space of the vascular wall. Vascular smooth muscle cell (VSMC) proliferation plays an important role in the development and progression of cardiovascular diseases. Recently, several studies have demonstrated that LDL acts as a classic growth factor promoting VSMC growth via mitogenic signals normally elicited by classic growth factors. The present work summarizes current nontraditional concepts regarding possible cellular mechanisms through which hypertension and LDL may promote the development of atherosclerosis. Especially addressed are the possible effects of an elevated blood pressure in combination with LDL on VSMC growth. The new research concept concerning LDL as a growth factor and carrier for biological active phospholipids such as sphingosine‐1‐phosphate and sphingosylphosphorylcholine may contribute to an understanding of the pathogenesis of atherosclerosis by elevated high blood pressure—Gouni‐Berthold, I., Sachinidis, A. Does the coronary risk factor low density lipoprotein alter growth and signaling in vascular smooth muscle cells? FASEB J. 16, 1477–1487 (2002)
Some personality traits of frequent clothing buyers
Authors: Goldsmith Ronald E.
Published: October 2002

This study examined several personal characteristics of frequent clothing buyers. The data came from a survey of 533 adult consumers including college students and non‐students. As shown in prior studies of clothing as well as other products, the heavy users in this study described themselves as involved, innovative, and knowledgeable, and as opinion leaders. They were also more likely to view new fashions as a means of expressing social and personal identity than light users. These traits were consistent for both men and women of all ages. Moreover, the psychological constructs were more strongly associated with usage than were levels of age, education, and income. The findings extend a profile of frequent clothing buyers and support an argument that heavy usage of many product categories is associated with similar psychological traits.
Trait‐Specific Dependence in Romantic Relationships
Authors: Ellis Bruce J. , Simpson Jeffry A. , Campbell Lorne
Published: October 2002

ABSTRACTInformed by three theoretical frameworks—trait psychology, evolutionary psychology, and interdependence theory—we report four investigations designed to develop and test the reliability and validity of a new construct and accompanying multiscale inventory, the Trait‐Specific Dependence Inventory (TSDI). The TSDI assesses comparisons between present and alternative romantic partners on major dimensions of mate value. In Study 1, principal components analyses revealed that the provisional pool of theory‐generated TSDI items were represented by six factors: Agreeable/Committed, Resource Accruing Potential, Physical Prowess, Emotional Stability, Surgency, and Physical Attractiveness. In Study 2, confirmatory factor analysis replicated these results on a different sample and tested how well different structural models fit the data. Study 3 provided evidence for the convergent and discriminant validity of the six TSDI scales by correlating each one with a matched personality trait scale that didnotexplicitly incorporate comparisons between partners. Study 4 provided further validation evidence, revealing that the six TSDI scales successfully predicted three relationship outcome measures—love, time investment, and anger/upset—above and beyond matched sets of traditional personality trait measures. These results suggest that the TSDI is a reliable, valid, and unique construct that represents a new trait‐specific method of assessing dependence in romantic relationships. The construct of trait‐specific dependence is introduced and linked with other theories of mate value.
Hydroxylamine Reductase Activity of the Hybrid Cluster Protein from
Escherichia coli
Authors: Wolfe Marcus T. , Heo Jongyun , Garavelli John S. , Ludden Paul W.
Published: October 2002

The hybrid cluster protein (HCP; formerly termed the prismane protein) has been extensively studied due to its unique spectroscopic properties. Although the structural and spectroscopic characteristics are well defined, its enzymatic function, up to this point, has remained unidentified. While it was proposed that HCP acts in some step of nitrogen metabolism, a specific role for this enzyme remained unknown. Recent studies of HCP purified from
Escherichia coli
have identified a novel hydroxylamine reductase activity. These data reveal the ability of HCP to reduce hydroxylamine in vitro to form NH
3
and H
2
O. Further biochemical analyses were completed in order to determine the effects of various electron donors, different pH levels, and the presence of CN
−
on in vitro hydroxylamine reduction.
Pyrophosphate-dependent fructose-6-phosphate 1-phosphotransferase overexpression in transgenic tobacco: physiological and biochemical analysis of source and sink tissues
Authors: Wood Susan M , King Steven P , Kuzma Monika M , Blakeley Stephen D , Newcomb William , Dennis David T
Published: October 2002

Transgenic Nicotiana tabacum L. (tobacco) plants expressing an unregulated gene for pyrophosphate-dependent fructose-6-phosphate 1-phosphotransferase (PFP) from the fermentor protist Giardia lamblia were produced. Independently transformed lines revealed a high level of Giardia PFP activity but unaltered activities of native plant PFP, phosphofructokinase, and fructose-1,6-bisphosphatase. Transgenic plants exhibited a decrease in total biomass but no dramatic physiological or morphological alterations or significant reduction of seed yield. Both source and sink tissues demonstrated altered partitioning: leaf starch was significantly lower at the beginning and end of the daily light period and young seeds had lower starch but higher lipid levels, and these changes were correlated with PFP activity. Transgenic seeds had significantly higher percentages of germination, and microscopic examination of these seeds showed a temporal enhancement in growth of the young embryo. The significance of these results as they relate to our current understanding of PFP is discussed.Key words: pyrophosphate-dependent fructose-6-phosphate 1-phosphotransferase (PFP), transgenic, Nicotiana tabacum, glycolysis, photosynthate partitioning.
A 75-kDa plant protein isolated by tubulin-affinity chromatography is a peroxisomal matrix enzyme
Authors: Harper John D.I , Weerakoon Nimalika D , Gardiner John C , Blackman Leila M , Marc Jan
Published: October 2002

The function of microtubules in plant cells relies on their interactions with various, largely unidentified, proteins. A 75-kDa polypeptide (p75) was isolated previously by tubulin affinity chromatography of tobacco BY-2 proteins and is further characterized here. We have obtained two peptide sequences of 13 and 8 amino acid residues from the p75, which have 77% and 87% similarity to two putative dTDP-glucose 4,6-dehydratase proteins of 74.9 and 75.3 kDa in Arabidopsis. The proteins contain a peroxisomal matrix targeting signal SKL or AKL near their carboxyl terminus, an epimerase-dehydratase motif, and a region of 321 amino acid residues sharing 41% similarity with a dTDP-glucose 4,6-dehydratase from Aneurinibacillus thermoaerophilus. A monoclonal antibody 4B9 against the tobacco p75 reacted with a 75-kDa polypeptide on immunoblots of tobacco BY-2 and Arabidopsis protein extracts, and in immunofluorescence microscopy it revealed small organelle-like structures in tobacco BY-2 and Arabidopsis root-tip cells. Double labelling with an antibody against the peroxisomal marker enzyme, catalase, showed that the organelles are indeed peroxisomes. The peroxisomes were in closer association with actin filaments than microtubules. This observation supports recent findings that plant peroxisomes move on actin filaments. We propose that the peroxisomal dTDP-glucose 4,6-dehydratases may be involved in plant defence responses to oxidative stress.Key words: actin, antibodies, microtubules.
AN OBJECT-BASED APPROACH TO MANAGING DOMAIN SPECIFIC THESAURI: SEMIAUTOMATIC THESAURUS CONSTRUCTION AND QUERY-BASED BROWSING
Authors: CHOI JAE HUN , YANG JAE DONG , LEE DONG GILL
Published: October 2002

In this paper, we propose a new approach for managing domain specific thesauri, where object-oriented paradigm is applied to thesaurus construction and query-based browsing. The approach provides an object-oriented mechanism to assist domain experts in constructing thesauri; it determines a considerable part of relationship degrees between terms by inheritance and supplies the domain expert with information available from other parts of the thesaurus being constructed or already constructed. In addition to that, it enables domain experts to incrementally construct the thesaurus, since the automatically determined relationship degrees can be refined whenever a more sophisticated thesaurus is needed. It may minimize domain experts' burden caused by the exhaustive specification of individual relationship. This approach also provides a query-based browsing facility, which enables users to find desired thesaurus terms without tedious browsing in the thesaurus. A browsing query can be formulated with terms rather ambiguous, yet capable of deriving the desired terms. This browsing query is useful especially when users want precise results. In other words, it is useful when they want to use only thesaurus terms carefully selected in reformulating Boolean queries. To demonstrate the feasibility of our approach, we fully implemented an object-based thesaurus system, which supports the semiautomatic thesaurus construction and the query-based browsing facility.
NONLINEAR OPTICS IN THE NEAR-FIELD ZONE OF ATOMS
Authors: KELLER OLE
Published: October 2002

Elements of a new quantum electrodynamic theory which might enable one to obtain a better understanding of the linear and nonlinear interaction between atomic systems in near-field contact is presented. To follow the space-time dynamics in the atomic near-field zone an electromagnetic propagator formalism with polychromatic photons is constructed. A first-quantized description based on the photon energy wave function for free polychromatic photons is extended in such a manner that the birth process of the photon, which takes place in the near-field zone of the source, can be followed. In order to be able to describe harmonic generation processes in near-field optics polychromatic photons of the simple wave-train type are used. The wave mechanical (first-quantized) description based on wave-train photons is upgraded to a field-theoretic (second-quantized) formalism using a new so-called propagator gauge which is closely related to the Poincaré gauge underlying the multipole description of quantum electrodynamics.
DETAILED CHARACTERISTICS OF PHOTOTHERMAL INDEX CHANGE IN GUEST-HOST LIQUID CRYSTALS
Authors: ONO HIROSHI
Published: October 2002

Detailed characteristics have been performed for optical nonlinearity originating in photothermal effects in guest-host liquid crystals. The effects of liquid crystal cell parameters and irradiation conditions on photothermal self-phase modulation and the resulting self-diffracted beam characteristics were quantitatively investigated by heat-conduction analysis and Kirchhoff's diffraction theory. We successfully explained all optical phenomena and our experimental and theoretical technique described here was useful for characterizing the photothermal self-phase modulation. This means that the photothermal mechanism was dominant in the laser-induced refractive index change in our guest-host liquid crystal cells and it is expected that our analytical technique described here will be useful for characterizing the extent to which the photothermal refractive-index change affects the laser-induced refractive index change in other kinds of guest-host liquid crystal cells in the future.
The development of social aggression and physical aggression: A narrative analysis of interpersonal conflicts
Authors: Xie Hongling , Cairns Robert B. , Cairns Beverley D.
Published: October 2002

Using conflict narratives reported by children and adolescents, this study investigated the development and social functions of social aggression in comparison to physical aggression. A total of 510 participants in two cohorts of a longitudinal study were involved (116 girls and 104 boys from Grade 4 and155 girls and 135 boys from Grade 7). Patterns of social aggression and physical aggression were identified based on interview reports in the first year of the study. Results showed that a triadic structure of social relationship was often reported in conflicts where social aggression was employed, whereas a dyadic structure was reported in conflicts involving physical aggression. Girls tended to use social aggression against girls, whereas boys tended to use physical aggression against boys. Children and adolescents who were central in peer social networks were more likely to employ social aggression than those who were peripheral in the networks. Social aggression was not reliably linked to concurrent or future problematic adjustment. Physical aggression, however, was not related to network centrality but was linked to concurrent and future maladjustment (e.g., low academic competence and school dropout). Aggr. Behav. 28:341–355, 2002. © 2002 Wiley‐Liss, Inc.
Fractionally spaced spatial adaptive equalization of S‐UMTS mobile terminals
Authors: Nordberg Jörgen , Mohammed Abbas , Nordholm Sven , Claesson Ingvar
Published: October 2002

In this paper we present fractionally spaced adaptive equalization techniques and space diversity combined receiver and evaluate their performance for the downlink of S‐UMTS system. The conventional ‘training’ (or non‐blind) and the ‘unsupervised’ (or blind) adaptive equalization algorithms are both investigated. Simulation results show that the equalizers are robust to Doppler shift and non‐linearity effects due to TWT amplifiers aboard the satellite. It is also shown that even with a moderate array size of two antenna elements, a significant improvement in terminal performance is achieved. Copyright © 2002 John Wiley & Sons, Ltd.
Effect of screw element type in degradation of polypropylene upon multiple extrusions
Authors: Canevarolo Sebastião V. , Babetto Ana Clélia
Published: October 2002

The screw profile of a twin‐screw extruder can be designed to contain kneading and conveying elements inducing different levels of degradation in the polymer melt. In this work, the level of degradation in polypropylene has been measured after multiple extrusions—for various screw profiles—using size exclusion chromatography and IR spectroscopy. The average molecular weight and the polydispersity have been reduced and the carbonyl and unsaturation indexes increase as the number of extrusions and the aggressivity of the screw profile increase. The kneading element with 90° caused the greater level of degradation. On the other hand, the addition of left‐hand conveying elements reduces the level of degradation because of the extra volume of molten polymer held in the screw, reducing the viability of oxygen inside the barrel. © 2002 Wiley Periodicals, Inc. Adv Polym Techn 21: 243–249, 2002; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/adv.10028
Initiation codon mutation in an Asian Indian family
Authors: Gupta Anju , Hattori Yukio , Agarwal Sarita
Published: October 2002

The β‐thalassemias are a heterogeneous group of hereditary anemias. A multitude of mutations have been reported, resulting in varied phenotypes. In each ethnic group there is always a subset of common, less common, and rare mutations, which makes population screening, prenatal diagnosis, and genetic counseling easier. In this paper we report a rare β‐thalassemia mutation found in an Indian subject by SSCP and sequencing analysis. The mutation, initiation ATG → ACG, was found in heterozygous condition in a patient belonging to Brahmin family of Uttar Pradesh origin. Haplotype analysis was performed to identify the chromosomal background associated with the mutation and to tracing the origin and spread of the mutation. This study, as previous studies, suggests that rare β‐thalassemia mutations, such as the initiation codon mutations, have no set geographical distribution and are relatively recent. Am. J. Hematol. 71:134–136, 2002. © 2002 Wiley‐Liss, Inc.
Molecular and hematological characterization of HPFH‐6/Indian deletion–inversion Gγ(Aγδβ)0‐thalassemia and Gγ(Aγδβ)0‐thalassemia/HbE in Thai patients
Authors: Fucharoen Supan , Pengjam Yutthana , Surapot Satja , Fucharoen Goonnapa , Sanchaisuriya Kanokwan
Published: October 2002

The hereditary persistence of fetal hemoglobin (HPFH)‐6 is sporadically found in Thailand whereas the deletion–inversion type Gγ(Aγδβ)0‐thalassemia is described among Indians. We report a hitherto un‐described case in which these two defects co‐segregate. He was a 3‐year‐old Thai boy who had a feature of thalassemia intermedia phenotype with the following hematologic data; Hb 8.8 g/dL, Hct 29.2%, MCV 66.9 fL, MCH 20 pg, and MCHC 30.1 g/dL. Hemoglobin analysis revealed 100% Hb F with only Gγ‐globin chain. Globin gene analyses demonstrated that he carried the HPFH‐6 deletion in trans to the Indian deletion–inversion Gγ(Aγδβ)0‐thalassemia. Hematologic data of the patient was compared to those of the HPFH‐6 heterozygote found in his father, to Gγ(Aγδβ)0‐thalassemia heterozygotes detected in his mother and sister, and to that of an unrelated Thai patient who was a compound heterozygote for the deletion–inversion Gγ(Aγδβ)0‐thalassemia and HbE. Am. J. Hematol. 71:109–113, 2002. © 2002 Wiley‐Liss, Inc.
Posterior urethral valves and mirror image anomalies in monozygotic twins
Authors: Morini Francesco , Ilari Michele , Casati Alessandra , Piserà Antonietta , Oriolo Lucia , Cozzi Denis A.
Published: October 2002

Monozygotic (MZ) twins with both posterior urethral valves (PUV) and additional mirror image malformations are described. This association suggests that an early embryonic event may lead to MZ twinning, PUV, and mirror image anomalies. © 2002 Wiley‐Liss, Inc.
Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)
Authors: Fiedler J. , Stöve J. , Heber F. , Brenner R.E.
Published: October 2002

We report on a family of 19 individuals over four generations in which 12 members are affected with a variant of multiple epiphyseal dysplasia. Beginning in childhood, the disease leads to pain and stiffness of knees, ankles, elbows and finger joints. Some adult patients repeatedly suffer from free articular bodies resulting in locking of the joint. Finally, affected individuals are prone to the development of early degenerative joint disease. Mutation screening of candidate regions revealed a novel point mutation at position −1 in the COL9A2 exon 3/intron 3 splicing region. This G → C substitution most probably induces an alteration of the splicing process. Family screening was carried out by both automated sequencing and by digestion of amplicons with BsaWI. We confirmed the nucleotide substitution in eight clinically affected family members as well as in three presymptomatic young children. Electron microscopy showed that the diameter of collagen fibrils from arthroscopically removed free articular bodies of two patients was not obviously different from that of normal articular cartilage. Together with previous reports our results indicate that mutations leading to skipping of exon 3 within the COL3 domain of the α2‐chain of collagen type IX may be relatively common in patients with a special subtype of multiple epiphyseal dysplasia (MED) in which the hips are not markedly affected at early age (EDM2). In these patients and their families, mutation screening of the candidate regions may help to confirm the diagnosis, lead to appropriate advice for lifestyle and well based genetic counseling. © 2002 Wiley‐Liss, Inc.
Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype
Authors: Kotzot Dieter , Dufke Andreas , Tzschach Andreas , Baeckert‐Sifeddine Iris‐Tatjana , Geppert Martin. , Holland Heidrun , Florus Jobst M. , Froster Ursula G.
Published: October 2002

We report on a 30‐year‐old woman with short stature, completely female external genitalia, primary amenorrhea, bilateral streak gonads, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Variable levels of mosaicism were found in blood and cultivated fibroblasts from both the skin and ovaries, with the percentage of the 45,X lineage never exceeding 33%. Fluorescence in situ hybridization (FISH) was performed with alpha satellite centromere region probes of the X and Y chromosomes (DXZ1 and DXZ3) as well as with the unique‐sequence, locus‐specific, sex‐determining region of the Y chromosome gene (SRY) and the DXZ1 probes. Each signal was noted for DXZ1 on the X chromosome and for the Y probes on the marker chromosome. Molecular investigations with a panel of PCR markers spread over the whole Y chromosome indicated a deletion breakpoint between sY 78 (interval 4) and sY 151 (interval 5F). No mutation of the high mobility group‐box (HMG‐box) of the SRY gene could be found following sequence analysis. The phenotype/genotype correlation demonstrates the broad phenotypic range of low‐level 45,X mosaicism with the resultant short stature and external female phenotype, despite the presence of SRY in a high proportion of cells in various tissues. © 2002 Wiley‐Liss, Inc.
Exploring the clinical and epidemiological complexity of GJB2‐linked deafness
Authors: Gualandi F. , Ravani A. , Berto A. , Sensi A. , Trabanelli C. , Falciano F. , Trevisi P. , Mazzoli M. , Tibiletti M.G. , Cristofari E. , Burdo S. , Ferlini A. , Martini A. , Calzolari E.
Published: October 2002

GJB2 mutation analysis was performed in 179 unrelated subjects with sporadic or familial hearing loss (HL). Among 57 families, 18 showed a vertical transmission of HL, the disease being present in two or three generations. Besides 155 nonsyndromic cases, 24 patients presenting with extra‐auditory clinical signs were included in the molecular study. GJB2 mutation analysis was also performed in 19 subjects with an anamnestic history of perinatal risks factors for acquired HL. The 35delG mutation accounted for 22.1% of analyzed chromosomes in sporadic cases and 39.4% in familial cases; 35delG prevalence reached 41% in autosomal recessive and 44.4% in pseudodominant pedigrees. Two novel GJB2 mutations were identified in compound heterozygosity with 35delG allele (D159V, 284ins/dup[CACGT]). Two 35delG homozygous subjects were identified among HL cases classified as environmental in origin. Four patients 35delG heterozygous (35delG/V95M, 35delG/L90P, 35delG/167delT, and 35delG/?) and two homozygous presented with extra‐auditory clinical signs involving different organs (skin, vascular system, hemopoietic lineages, and thyroid). In a high proportion of 35delG heterozygous HL patients (52%), no second GJB2 mutation was detected. The reported data highlight the complexity of the genetic epidemiology of GJB2‐linked deafness, further enlarging the spectrum of situations in which GJB2 mutation analysis should be performed. The presence of extra‐auditory signs in a significant portion of GJB2‐mutated patients suggests the possibility that GJB2 loss of function could contribute to clinical phenotypes presenting in association with deafness. This hypothesis deserves further investigation. The failure to identify a presumed partnering GJB2 mutation in a high proportion of deaf patients remains a challenging problem to be clarified. © 2002 Wiley‐Liss, Inc.
Auriculo‐condylar syndrome: Additional patients
Authors: Guion‐Almeida Maria Leine , Zechi‐Ceide Roseli Maria , Vendramini Siulan , Kokitsu‐Nakata Nancy Mizue
Published: October 2002

This report describes several relatives in three generations of one family and another, unrelated boy with auriculo‐condylar syndrome, a rare autosomal dominant disorder. Variation in the severity of the abnormalities was observed. We discuss the findings in our patients in relation to those in the literature. © 2002 Wiley‐Liss, Inc.
Family MRX9 revisited: Further evidence for locus heterogeneity in MRX
Authors: Winnepenninckx Birgitta , Errijgers Vanessa , Reyniers Edwin , De Deyn Peter P. , Abidi Fatima E. , Schwartz Charles E. , Kooy R. Frank
Published: October 2002

Nonspecific X‐linked mental retardation (MRX) patients are characterized by mental retardation, without additional distinguishing features. Consequently, MRX families can only be distinguished by mapping studies; yet, due to imprecise mapping studies performed in the past, the number of genes causing MRX is debatable, and a more precise localization for families is necessary to estimate this number. MRX 9 has been mapped to the pericentromeric region Xp21‐q13. We refined the mapping of the MRX9 family to Xp11.22‐Xp11.4. A sequencing analysis of three likely candidate genes in Xp11, SREB3, synapsin I, and TM4SF2, revealed no mutations. © 2002 Wiley‐Liss, Inc.
FGFs, their receptors, and human limb malformations: Clinical and molecular correlations
Authors: Wilkie Andrew O.M. , Patey Susannah J. , Kan Shih‐hsin , van den Ouweland Ans M.W. , Hamel Ben C.J.
Published: October 2002

Fibroblast growth factors (FGFs) comprise a family of 22 distinct proteins with pleiotropic signaling functions in development and homeostasis. These functions are mediated principally by four fibroblast growth factor receptors (FGFRs), members of the receptor tyrosine kinase family, with heparin glycosaminoglycan as an important cofactor. Developmental studies in chick and mouse highlight the critical role of FGF‐receptor signaling in multiple phases of limb development, including the positioning of the limb buds, the maintenance of limb bud outgrowth, the detailed patterning of the limb elements, and the growth of the long bones. Corroborating these important roles, mutations of two members of the FGFR family (FGFR1 and FGFR2) are associated with human disorders of limb patterning; in addition, mutations of FGFR3 and FGF23 affect growth of the limb bones. Analysis of FGFR2 mutations in particular reveals a complex pattern of genotype/phenotype correlation, which will be reviewed in detail. Circumstantial evidence suggests that the more severe patterning abnormalities are mediated by illegitimate paracrine signaling in the mesoderm, mediated by FGF10 or by a related FGF, and this is beginning to gain some experimental support. A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. © 2002 Wiley‐Liss, Inc.
Idiopathic congenital central hypoventilation syndrome: the next generation
Authors: Silvestri Jean M. , Chen Maida L. , Weese‐Mayer Debra E. , McQuitty John M. , Carveth Holly J. , Nielson Dennis W. , Borowitz Drucy , Cerny Frank
Published: October 2002

Idiopathic congenital central hypoventilation syndrome (CCHS) is a rare disorder in which affected children have a decreased sensitivity of their respiratory centers to hypercarbia and hypoxia, as well as evidence for generalized autonomic nervous system dysfunction. A genetic origin has long been hypothesized for CCHS. Previous reports of the syndrome among twins, siblings, and half siblings, as well as an established association with Hirschsprung disease and neural crest tumors support this genetic hypothesis. Here, we present the first reported offspring born to four women diagnosed with idiopathic CCHS. Their children display a spectrum of abnormalities with one child being diagnosed with CCHS, one child with recurrent apparent life threatening events, one infant born prematurely with severe chronic lung disease and diminished ventilatory responses to carbon dioxide, and one infant who is apparently healthy with no clinical manifestations suggestive of disordered respiratory control to date. Two and potentially three of these patients illustrate transmission of altered respiratory control by CCHS patients into the next generation, furthering the evidence that CCHS is part of a broadly based inherited syndrome of autonomic nervous system dysfunction. © 2002 Wiley‐Liss, Inc.
Diet composition of chimpanzees inhabiting the Montane forest of Kahuzi, Democratic Republic of Congo
Authors: Basabose A. Kanyunyi
Published: October 2002

The diet of chimpanzees was investigated by direct observations, feeding remains, and fecal analysis from January 1994 to December 2000 in the montane forest of Kahuzi‐Biega National Park. A total of 171 food items were identified, among which 156 items were plant materials belonging to 114 species from 57 taxonomic families. Chimpanzees consumed 66 species of fruits (62 species of pulps and four species of seeds). Results of fecal analysis showed that fig fruits were the most frequently eaten. Their seeds occurred in 92% of a total of 7,212 chimpanzee fecal samples. The chimpanzees changed their diet according to seasonal and annual variations in both abundance and diversity of fruit species. However, they are very selective frugivores. Only a few pulp‐fruit species are regularly identified in their fecal samples. During the rainy season, when ripe fruit was scarce, chimpanzees relied heavily on piths and leaves. They swallowed leaves of two species of Commelinaceae without chewing, probably for medical purposes. Animal foods were eaten infrequently. The montane forest of Kahuzi, where chimpanzees range up to 2,600 m above sea level, may be the highest altitudinal limit ever recorded for their distribution. Compared to other chimpanzee habitats, Kahuzi has a low diversity of fruit species and the availability of a few pulp‐fruit species may be critical to the survival of Kahuzi chimpanzees. Am. J. Primatol. 58:1–21, 2002. © 2002 Wiley‐Liss, Inc.
Brief communication: Molecular analysis of the Kwäday Dän Ts'finchi ancient remains found in a glacier in Canada
Authors: Monsalve M. Victoria , Stone Anne C. , Lewis Cecil M. , Rempel Allan , Richards Michael , Straathof Dan , Devine Dana V.
Published: October 2002

DNA was extracted from the frozen remains of a man found in the northwest corner of British Columbia, Canada, in 1999. His clothing was radiocarbon‐dated at ca. 550 years old. Nitrogen and carbon content in whole bone and collagen‐type residue extracted from both bone and muscle indicated good preservation of proteinaceous macromolecules. Restriction enzyme analysis of mitochondrial DNA (mtDNA) determined that the remains belong to haplogroup A, one of the four major Native American mtDNA haplogroups. Data obtained by PCR direct sequencing of the mtDNA control region, and by sequencing the clones from overlapping PCR products, were duplicated by an independent laboratory. Comparison of these mtDNA sequences with those of North American, Central American, South American, East Siberian, Greenlandic, and Northeast Asian populations indicates that the remains share an mtDNA type with North American, Central American, and South American populations. Am J Phys Anthropol 119:288–291, 2002. © 2002 Wiley‐Liss, Inc.
Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1
Authors: Abbruzzese Claudia , Costanzi Porrini Sandro , Mariani Bruno , Gould Fiona K. , Mcabney John P. , Monckton Darren G. , Ashizawa Tetsuo , Giacanelli Manlio
Published: October 2002

Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK gene on chromosome 19q13.3. We present two siblings with DM1 who each inherited a premutation allele, (CTG)43, stably transmitted from the mother and a full‐mutation allele, either (CTG)500 or (CTG)180, derived from a paternal protomutation allele, (CTG)52. Small‐pool polymerase chain reaction analysis showed that the (CTG)52 repeat allele was relatively stable in somatic tissues but was highly unstable in the male germline and extremely biased toward further expansion, consistent with the high levels of anticipation observed in DM1 families. The (CTG)43 allele showed subtle somatic instability in the mother, with maximum additions of two repeats and deletions of one repeat. Conversely, in the younger affected siblings the (CTG)43 allele showed a high degree of somatic instability (approximately 70% mutation load), resulting in deletions reverting to the high end of the normal range (down to [CTG]33) and additions up to the proto‐mutation range (up to [CTG]64). The difference in the somatic stability of the (CTG)43 allele between the mother and her offspring suggests that interallelic interactions or other mechanisms in trans regulate the stability of the (CTG)43 premutation allele.
An R5L τ mutation in a subject with a progressive supranuclear palsy phenotype
Authors: Poorkaj Parvoneh , Muma Nancy A. , Zhukareva Victoria , Cochran Elizabeth J. , Shannon Kathleen M. , Hurtig Howard , Koller William C. , Bird Thomas D. , Trojanowski John Q. , Lee Virginia M.‐Y. , Schellenberg Gerard D.
Published: October 2002

MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. A point mutation (R5L) was identified in a single progressive supranuclear palsy subject that was not in the other progressive supranuclear palsy subjects or in 96 controls. Functionally, this mutation alters the ability of tau to promote microtubule assembly. Analysis of soluble tau from different brain regions indicates that the mutation does not affect the ratio of tau isoforms synthesized. Aggregated insoluble tau from subcortical regions was predominantly four‐repeat tau with no or one amino terminal insert (0N4R and 1N4R). Insoluble tau from cortical regions also contained 1N3R tau. Thus, the R5L mutation causes a progressive supranuclear palsy phenotype, presumably by a gain‐of‐function mechanism.
Crystallization behavior of syndiotactic polystyrene nanocomposites for melt‐ and cold‐crystallizations
Authors: Tseng Chen‐Rui , Wu Shoei‐Chin , Wu Jeng‐Jue , Chang Feng‐Chih
Published: October 2002

Analyses of the effects of montmorillonite (clay) on the crystallinity and crystallization behavior of syndiotactic polystyrene (s‐PS) were investigated by Fourier transform infrared (FTIR) spectroscopy and differential scanning calorimetry (DSC). The dispersibility of the clay in s‐PS nanocomposites was studied by X‐ray and transmission electron microscopy (TEM). The clay was dispersed into the s‐PS matrix by melt blending on a scale of 1–2 nm or few tenths–100 nm, depending on the surfactant treatment. On adding clay, the crystallization behavior of the s‐PS tends to convert into the β‐crystal from the α‐crystal after being cold‐crystallized because the clay plays a vital role in facilitating the formation of the thermodynamically favored β‐form crystal when the s‐PS is cold‐ or melt‐crystallized. This phenomenon leads to a change in a conventional mechanism of molecular packing for the s‐PS. Evidently, the clay significantly affects the crystallinity and crystallization behavior of the s‐PS. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2492–2501, 2002
Effect of rare earth elements' surface treatment on tensile properties and microstructure of glass fiber–reinforced polytetrafluoroethylene composites
Authors: Xue Yu‐Jun , Cheng Xian‐Hua
Published: October 2002

Three types of surface modifiers, N‐β‐aminoethyl‐γ‐aminopropyltrimethoxysilane coupling agent (SGS), a mixture of silane and rare earth elements (SGS/RES), and rare earth elements surface modifier (RES), were used to treat the glass fiber surface. Tensile tests of glass fiber–reinforced polytetrafluoroethylene (GF/PTFE) composites with different surface treatment conditions, surface modifiers, and glass fiber content were carried out. Finally, the fracture surface morphologies of GF/PTFE composites were investigated using scanning electron microscopy. Experimental results show that the tensile properties of the treated GF/PTFE composite increased compared with those of the untreated one. RES is superior to SGS/RES and SGS modifiers in promoting interfacial adhesion between the glass fiber and PTFE because of the effects of rare earth elements on the compatibility. Meanwhile, the optimum contents of rare earth elements for the improvement of the tensile properties of GF/PTFE composite were obtained for RES and SGS/RES modifiers. The interfacial adhesion of the GF/PTFE composites treated with RES or SGS/RES modifiers was mainly controlled by the contents of rare earth elements. The tensile properties of the GF/PTFE composites improved considerably when the content of rare earth elements in surface modifiers was 0.2–0.4 wt %, and the optimum tensile performance of GF/PTFE composites was obtained at 0.3 wt % RE content. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1667–1672, 2002
Segregation of resin‐bound peptides during solid‐phase synthesis
Authors: Krishna Kumar I. M. , Mathew Beena
Published: October 2002

To compare the segregation ability of 1,4‐butanediol dimethacrylate‐crosslinked polystyrene (BDDMA‐PS) and divinylbenzene‐crosslinked polystyrene (DVB‐PS), a set of difficult sequence peptides characterized by high‐arithmetic‐average β‐sheet stabilizing potential (SPβ) and low‐stepwise arithmetic average random coil conformational parameter (Pc*) were synthesized on both supports (∼ 2 mmol Cl g−1) under identical conditions. The yield and purity of the peptides obtained from BDDMS‐PS resin were higher than from DVB‐PS resin. The synthetic efficiency of the new support was found to be its ability to suppress the aggregation of growing peptide chains by β‐sheet formation. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1717–1723, 2002
Improving the toughness and flame retardancy of cured epoxy resin with brominated castor oil
Authors: Xiao Weidong , He Peixin , He Benqian
Published: October 2002

Data from techniques such as limiting oxygen index, thermal analysis, scanning electron microscope, heat deformation curve, mechanical properties measurement, etc. show that cured epoxy resin modified by brominated castor oil possesses good flame retardation, toughness, moderate smoke suppression, and some degree of resistance to heat. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2530–2534, 2002
Performance evaluation of synthesized acrylic acid grafted polyethylene in aluminum hydroxide highly filled polyethylene composites
Authors: Wang Genlin , Jiang Pingkai , Zhu Zikang , Yin Jie
Published: October 2002

A polymeric agent acrylic acid grafted polyethylene (AAgPE) was synthesized and used as a coupling agent in aluminum hydroxide [Al(OH)3] highly filled linear low‐density polyethylene (LLDPE) composite. It is found that AAgPE improves the interfacial adhesion between the filler and the polyethylene matrix, which results in good mechanical properties of the composite. Silicon oil is an effective additive for improving the impact strength, the elongation at break, and the rheological property of the filled composite, but it decreases the tensile strength remarkably. The combination of AAgPE and silicon oil can lead to good performance of the composite. Flammability properties and fracture surface morphologies of the composites through scanning electron microscopy were investigated. The relationship between mechanical properties and microstructure of the composites was discussed. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2544–2549, 2002
Comparison of various solvents for determination of intrinsic viscosity and viscometric constants for cellulose
Authors: Kasaai Mohammad R.
Published: October 2002

Different solvents used to determine the intrinsic viscosity and the viscometic constants, a and K, published in the literature for cellulose, were compared. The various parameters affecting the viscometric constants were also evaluated. The main conclusions obtained from the experimental data available in the literature are that (1) the intrinsic viscosities in various solvents are ordered as follows: [η]LiCl/DMAc > [η]NH3/NH4SCN ≥ [η]FeTNa > [η]CED > [η]Cadoxen > [η]Cuoxam; (2) the reported intrinsic viscosities and molecular weights for cellulose are lower than the true value due to degradation of cellulose in the solvents; (3) the rate of degradation was the smallest in LiCl/DMAc and NH3/NH4SCN, moderate in cadoexn and FeTNa, and the highest in CED and cuoxam; (4) the plot of log K versus exponent a was linear and inversely related; (5) the curve was used for estimation of the constant K for cellulose in a solvent (NH3/NH4SCN) with a known exponent a; and (6) among various reported solvents, LiCl/DMAc and NH3/NH4SCN are advantageous over other solvents because of a complete dissolution of the polymer with a negligible reduction in its intrinsic viscosity. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2189–2193, 2002
Formation of monodisperse polyacrylamide particles by radiation‐induced dispersion polymerization. I. Synthesis and polymerization kinetics
Authors: Ye Qiang , He Weidong , Ge Xuewu , Jia Haiting , Liu Huarong , Zhang Zhicheng
Published: October 2002

Highly monodisperse polyacrylamide (PAM) microparticles were directly prepared by radiation‐induced dispersion polymerization at room temperature in an aqueous alcohol media using poly(N‐vinylpyrrolidone) (PVP) as a steric stabilizer. Monomer conversion was studied dilatometrically and polymer molecular weight was determined viscometrically. The gel effect was found evidently from the polymerization kinetics curves. The influence of the dose rate, monomer concentration, stabilizer content, medium polarity, polymerization temperature on the polymerization rate, and the molecular weight of the polymer was examined. The polymerization rate (Rp) can be represented by Rp ∝ D0.15[M]0.86[S]0.47[A/W]0.64 and the molecular weight of the polymer can be represented by Mw ∝ D−0.19 [M]1.71[S]0.43[A/W]0.14 at a definite experimental variation range. The overall activation energy for the rate of polymerization is 10.57 kJ/mol (20–35°C). Based on these experimental results, the polymerization mechanisms were discussed primarily. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2567–2573, 2002
Fracture toughness of bisphenol A‐type epoxy resin
Authors: Araki Wakako , Adachi Tadaharu , Yamaji Akihiko , Gamou Masahiro
Published: October 2002

The relationship between the postcuring conditions and the fracture toughness of a bisphenol A‐type epoxy resin cured with acid anhydride was investigated. The glass transition temperature and fragility parameter, derived from the thermo‐viscoelasticity, were used to characterize the epoxy resin postcured under various conditions. Relationship between these two parameters and the fracture toughness was then investigated, based on the fractography results of a microscopic roughness examination of a fractured surface. The values of the glass transition temperature and fragility greatly depended on the postcuring conditions. The glass transition temperature was approximately 400 K when the crosslinking reaction was saturated. The fragility was independent of the saturation of the reaction and varied between 50 and 180. The results of the fracture test and fractography examination showed that there was no direct correlation between the glass transition temperature, the fracture toughness, and the roughness. On the other hand, there was a correlation between the fragility, fracture toughness, and roughness when the glass transition temperature saturated (at 400 K). As the fragility decreased from 180 to 50, the fracture toughness increased from 0.6 to 1.1 MPa · m1/2 at the same glass transition temperature. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 10: 2266–2271, 2002