bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of neural tube defects: Experiences with acetylcholinesterase gel electrophoresis
Authors: Crandall Barbara F. , Kasha Walter , Matsumoto Myles 
Published: June 2005

AbstractWe assessed the qualitative test for AChE in addition to AFP for the diagnosis of NTD in 420 AF samples selected from 16,000 second trimester amniocenteses. Three‐hundred and thirty were from normal and ninety from abnormal pregnancies. There were three false positives by this test, two from stored samples containing fetal blood and one from a clear specimen; all had normal outcomes and two had had abnormal AFPs. Forty‐seven of forty‐seven NTDs were positive by AChE and included 26 cases of anencephaly, 16 OSBs, and 5 encephaloceles. In addition, about half of the cases of omphalocele, fetal demise, cystic hygroma, and hydrops gave positive results. One case of congenital nephrosis was negative.We conclude that AChE gel electrophoresis is a useful adjunctive test when AFP levels measure +3 SD above the mean. Although no false negatives occurred in this series identified by elevated AFP or increased risk for NTDs, the number in unselected pregnancies is not known.
Brief clinical report: A further patient with the Pitt‐Rogers‐Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation
Authors: Donnai Dian , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA further case of a syndrome of pre‐ and postnatal growth retardation, characteristic face, and unsual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 1984.
Single central maxillary incisor and holoprosencephaly
Authors: Hattori Haruo , Okuno Takehiko , Momoi Toru , Kataoka Kenkichi , Mikawa Haruki , Shiota Kohei , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA holoprosencephalic child was born to a mother with a single central maxillary incisor. The infant had a median cleft lip, a flat nose with a single nostril, hypotelorism, and normal chromosomes. The head was brachycephalic and small, and computed tomography (CT) of the brain showed semilobar holoprosencephaly. The mother had mild hypotelorism but no anosmia, and her brain CT was normal. She was of normal intelligence and stature. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. Whether the mother's anomaly was a new mutation or had been inherited is unknown. We show the significance of a single central maxillary incisor as an indicator of potential holoprosencephaly in the next generation, even if other relatives are apparently normal.
Vascular anomalies in campomelic syndrome
Authors: Rodríguez José Ignacio 
Published: June 2005

AbstractWe report on 4 patients with the campomelic syndrome (CS) in whom postmortem angiography of the lower limbs was performed. Of the 4 ptients, 3 were phenotypic females (2 of them with a 46,XY karyotype) and one was a male with a normal 46,XY karyotype. Three fulfilled the criteria fo CS, and one (phenotypically female with a 46,XY karyotype) lacked the lower limb bowing and the talipes equinovarus typical of CS. This infant may constitute a further example of the recently reported CS without campomelia.The results of the angiographic study are compared with 46 postmortem angiographies of normal fetuses and newborn infants at different gestational ages. In the first 3 Cs patients the main arterial axis of the lower limb, formed by the superficial femoral and anterior tibial arteries, has smaller diameters than expected while the profunda femoris and posterior tibial arteries had greater diameters than age‐matched controls However, the most striking abnormality was the absence or marked deficiency of the anterior tibial artery. Its terminal branch, the doralis pedis artery, was also absent and the plantar arch was abnormally formed by the posterior tibial artery either alone or in conjunction with the peroneal artery. The normal arterial pattern was found in the patient who lacked bowed bones. This finding supports an developmental association between vascular defects and lower limb anomalies in CS.This aberrant arterial pattern in CS may affect or be affected by muscle development. The shortness of the posterior femoral and calf muscles fix the knee and the ankle joints. Bone bowing is probably related to the abnormal mechanical forces applied to the developing long bones of the lowe limb. © 1993 Wiley‐Liss, Inc.
Jumping translocation in a newborn boy with dup (4q) and severe hydrops fetalis
Authors: Duval Els , van den Enden Apollonia , Vanhaesebrouck Piet , Speleman Frank 
Published: June 2005

AbstractWe report on the unusual cytogenetic findings in a newborn boy with severe hydrops fetalis. He has a mosaic for 2 unbalanced chromosome rearrangements: a der(18)‐t(4;18)(q31;q23) and a der (18)t(4;18)(q31;p11). As a result, this patient had a duplication of 4q31‐qter in all cells, and was possibly monosomic for the distal ends of 18p and 18q, respectively in the 2 cell lines. Since in both rearrangements the same chromosome 4 segment was translocated to 2 different chromosome regions, we consider the present finding as a peculiar type of jumping translocation. © 1994 Wiley‐Liss, Inc.
Auriculocephalic index: A new anthropometric index for syndrome delineation
Authors: Pelz Lothar , Stein Beate 
Published: June 2005

AbstractWe describe a new anthropometric index, the “auriculocephalic index.” It results from the ratio between the length of auricle and the corresponding preauricular head height. The index is independent of sex and of age. Normally it ranges between 0.25 (−2s) and 0.33 (+2s). In syndrome delineation it may help to diagnose more precisely large or small auricles as phenogenetic variants. © 1995 Wiley‐Liss, Inc.
Variant of odontoonychodermal dysplasia?
Authors: Arnold W. P. , Merkx M. A. W. , Steijlen P. M. 
Published: June 2005

AbstractIn this case report we describe a patient with all the manifestations seen in the odontoonychodermal dysplasia syndrome, except for the shape of teeth and mild mental deficiency. © 1995 Wiley‐Liss, Inc.
Tana river red colobus and crested mangabey: Results of recent censuses
Authors: Decker Barbara Sigman , Kinnaird Margaret F. 
Published: June 2005

AbstractCensuses of the Tana River red colobus (Colobus badius rufomitratus) and crested mangabey (Cercocebus galeritus galeritus), primate species endemic to riverine forests of the lower Tana River in eastern Kenya, showed significant population declines for both species between the mid‐1970s and 1980s. Red colobus declined in terms of group size and number of groups per forest; the mangabey population declined only in numbers of groups per forest. There was no significant change in mean group age/sex composition between the two time periods for either species. Differences in the feeding and ranging ecology of the two species may explain why the mangabey population suffered a less severe decline than the red colobus. Similarities in census results over 3 years in the late 1980s suggest that the primate populations are no longer decreasing.
Primate population studies at Polonnaruwa. II. Heritability of body measurements in a natural population of toque macaques (Macaca sinica)
Authors: Cheverud James M. , Dittus Wolfgang P. J. 
Published: June 2005

AbstractThe heritability of quantitative traits, or the proportion of phenotypic variation due to additive genetic or heritable effects, plays an important role in determining the evolutionary response to natural selection. Most quantitative genetic studies are performed in the laboratory, due to difficulty in obtaining genealogical data in natural populations. Genealogies are known, however, from a unique 20‐year study of toque macaques (Macaca sinica) at Polonnaruwa, Sri Lanka. Heritability in this natural population was, therefore, estimated.Twenty‐seven body measurements representing the lengths and widths of the head, trunk, extremities, and tail were collected from 270 individuals. The sample included 172 offspring‐mother pairs from 39 different matrilineal families. Heritabilities were estimated using traditional mother‐offspring regression and maximum likelihood methods which utilize all genealogical relationships in the sample.On the common assumption that environmental (including social) factors affecting morphology were randomly distributed across families, all but two of the traits (25 of 27) were significantly heritable, with an average heritability of 0.51 for the mother‐offspring analysis and 0.56 for the maximum likelihood analysis. Heritability estimates obtained from the two analyses were very similar. We conclude that the Polonnaruwa macaques exhibit a comparatively moderate to high level of heritability for body form. © 1992 Wiley‐Liss, Inc.
Muscle specification in the Xenopus laevis gastrula‐stage embryo
Authors: Wunderlich Kathleen , Gustin Jean K. , Domingo Carmen R. 
Published: June 2005

AbstractRecent fate maps of the Xenopus laevis gastrula show that mesodermal tissue surrounding the blastopore gives rise to muscle (Keller [1991] Methods Cell Biol 36:61–113; Lane and Smith [1999] Development 126:423–434). In a significant deviation from earlier data, the new maps demonstrate that cells in the ventral half of the gastrula are precursors to a significant portion of trunk somites. However, these posterior somites are not formed until tadpole stages (stages 38–44). We therefore set out to determine the timing of muscle specification within the ventral half of the gastrula. Our approach was to generate a series of tissue explants from gastrula‐stage embryos and then culture them to either stage 28 (tailbud) or stage 44 (tadpole). At each endpoint, the presence of muscle in explants was assessed with a muscle‐specific antibody. Interestingly, we found that muscle tissue is detected in ventral explants. However, these explants must be cultured to the tadpole stage. This is perhaps not unexpected, as this is the point at which this tissue normally gives rise to muscle. We further show that muscle specification of the involuting marginal zone does not change over the course of gastrulation. Together, these results suggest that dorsalizing signals emanating from the midline during gastrulation are not necessary for muscle specification of the ventral half of the involuting marginal zone. Developmental Dynamics 233:1348–1358, 2005. © 2005 Wiley‐Liss, Inc.
Dynamic EGFR‐Ras signalling in Drosophila leg development
Authors: Galindo M.I. , Bishop S.A. , Couso J.P. 
Published: June 2005

AbstractIn Drosophila, as in many other animals, EGFR‐Ras signalling has multiple developmental roles from oogenesis to differentiation. In leg development, in particular, it has been described to be responsible for the establishment of distal leg fates in a graded manner. Here, we investigate the patterns of expression of activators of EGFR‐Ras signalling, as well as some of the effectors, in order to better understand the patterning of the distal leg, and to investigate further roles of this signalling pathway. These patterns, together with genetic data obtained by different mutant conditions for EGFR‐Ras members and transgene expression, suggest two rounds of signalling in leg development. Early, the EGFR ligand Vein is the main player in distal leg patterning, possibly supported later by another ligand activated by Rhomboid. Later, in a second wave of signalling when all the proximal‐distal leg fates have been specified, domains of EGFR/Ras activation appear inside each leg segment to regulate Notch‐mediated joint development, and also some organs such as tendons and sensory organs. This second wave relies on a ligand activated by Rhomboid. Developmental Dynamics 233:1496–1508, 2005. © 2005 Wiley‐Liss, Inc.
Reaction of 1,3,5‐Triazacyclohexanes with TiCl4: Formation of Cationic Complexes
Authors: Köhn Randolf D. , Kampe Philip , Kociok‐Köhn Gabriele 
Published: June 2005

AbstractN‐substituted 1,3,5‐triazacyclohexanes [R3TAC; R = cyclohexyl, p‐fluorobenzyl or Ph(CH2)n (n = 1, 2, 3)] react with excess TiCl4 to give the corresponding cationic κ3 complexes [(R3TAC)TiCl3][Ti2Cl9]. Attempts to prepare complexes with titanium‐free anions at lower Ti:R3TAC ratio or with added Me3SiOTf lead to the same cations with [Ti2Cl10]2– and [Ti2Cl8(OTf)]– anions. Five complexes as well as (p‐fluorobenzyl)3TAC have been characterised by X‐ray crystallography. The ring C–H bonds engage in hydrogen bonding interactions in the crystals and strongly solvent and anion dependent 1H NMR signals are detected in solution. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2005)
Two Novel Cadmium Polymeric Metallamacrocyclic Complexes Constructed from a Pyridylmethyl‐Functionalized Tetraaza Ligand
Authors: Ma Zhen , Chen Zhongning , Cao Rong 
Published: June 2005

AbstractA new octadentate ligand L was synthesized by tetrafunctionalization of 1,4,8,11‐tetraazacyclotetradecane (L1, cyclam) with 4‐pyridylmethyl groups and its two novelcadmium polymeric metallamacrocyclic complexes, [Cd3L1.5(C6H5O7)2·6H2O]n (1) and [CdCl2L2·2.5H2O]n (2), were obtained by hydrothermal methods. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2005)
Determination of Iodide and Idoxuridine at a Glutaraldehyde‐Cross‐Linked Poly‐L‐Lysine Modified Glassy Carbon Electrode
Authors: Pereira Francisco C. , Fogg Arnold G. , Ugo Paolo , Bergamo Erwing. P. , Stradiotto Nelson.R. , Zanoni Maria Valnice B. 
Published: June 2005

AbstractThe detection limit (about 0.017 μg mL−1) for voltammetric determination of iodide (peak at +0.87 V vs. Ag/AgCl at pH 2) at a glutaraldehyde‐cross‐linked poly‐L‐lysine modified glassy carbon electrode involving oxidation to iodine was found to be several orders of magnitude lower than that for the voltammetric determination on a bare glassy carbon electrode. This method was applied successfully to the determination of iodide in two medicinal formulations. Idoxuridine was determined indirectly at the same electrode by accumulating it first at −0.8 V vs. Ag/AgCl. At this potential the CI bond in the adsorbed idoxuridine is reduced giving iodide, which is then determined at the modified electrode. The method was successfully applied to the determination of idoxuridine in a urine sample.
Identification and Electroanalytical Characterization of Redox Transitions in Solid‐State Keggin type Phosphomolybdic Acid
Authors: Lewera Adam , Chojak Malgorzata , Miecznikowski Krzysztof , Kulesza Pawel J. 
Published: June 2005

AbstractThe tetragonal single crystal, H3PMo12O40⋅29H2O, is considered here as a model system to describe multielectron redox reactions of Keggin type phosphododecamolybdate. Electrochemical experiments have been performed in solid‐state, i.e. in the absence of contact with liquid electrolyte phase, and they have utilized a gold wire ultramicrodisk (diameter: 10 μm) working electrode, a silver disk quasireference electrode, and a glassy carbon counter electrode within all solid cell. The results of voltammetric measurements are explained and verified against the simulated data. The reversible redox reactions of phosphododecamolybdic acid (H3PMo12O40⋅29H2O) single crystal, that appear at most positive potentials, can be understood in terms of two overlapping one‐electron redox processes (separated by only ≈50 mV), rather than a single two‐electron redox transition, followed by another one‐electron process. Comparison is made to the conventional electrochemical behavior of phosphododecamolybdate in solution (0.5 mol dm−3 H2SO4) as well as to the characteristic of its adsorbate on the electrode surface. The following parameters have been determined from the combination of potential step experiments performed in two limiting (radial and linear) diffusional regimes: the concentration of heteropolymolybdate redox centers, 1.4 mol dm−3, and the apparent diffusion coefficient for charge propagation, 3.6×10−7 cm2 s−1. The result supports the concept of the kinetic control of charge transport by electron hopping (self‐exchange) between mixed‐valence (MoVI/MoV) sites.
Summary measures for evaluating the evidence for linkage
Authors: Wilson Susan R. 
Published: June 2005

AbstractTwo summary measures for evaluating the evidence for linkage are the maximum lod score and the average of the likelihood function (antilod score). The average antilod score can be used to calculate an exact probability of there being no linkage. Use of subjective prior probabilities in the calculation will only influence the final conclusion in any important way if evidence from the sample is not particularly conclusive. It is shown how results from two‐point analyses for linkage of the test locus with each marker locus can be easily combined to give an approximate probability of there being no linkage. Some examples using bipolar affective disorder data and marker loci are presented.
Somatic allele loss in genetic linkage analysis of cancer
Authors: Rebbeck Timothy R. , Lustbader Edward D. , Buetow Kenneth H. 
Published: June 2005

AbstractThe ability to detect or reject genetic linkage in studies of human cancer is often diminished because multiple affected relatives in a pedigree are unavailable for analysis. The observation of somatic allele loss in tumors can provide knowledge about gametic phase. Therefore, consideration of tumor genotype data could be used to obtain knowledge about gametic phase ordinarily gained from a larger sample of individuals in cancer families. The objective of the present study is to describe a method for improving the power to detect or reject genetic linkage by using knowledge about somatic genetic changes in tumor tissue. A modification to the lod score method of linkage analysis is proposed in which knowledge of gametic phase in the linkage likelihood is inferred from observations of loss of constitutional heterozygosity (LoH) in tumor tissue. This methodology was evaluated using a double backcross nuclear family with a pair of offspring. The expected lod score improved substantially when tumor genotype data were included in the analysis. For example, when the haplotype remaining in tumor tissue was identical to the inherited haplotype in constitutional tissue 99% of the time, linkage analyses without tumor genotype data would require a 2–5 times larger sample of offspring pairs to conclude linkage with an expected lod score value of 3 or greater, compared to analyses incorporating tumor genotype data. These results suggest that consideration of tumor genotype data using the proposed method can substantially improve the power of linkage analyses in cancer families. © 1994 Wiley‐Liss, Inc.
Recombination fraction estimate of zero in the presence of apparent recombinants: Effects of incomplete penetrance and sporadic cases
Authors: Boehnke Michael , Hulbert‐Shearon Tempie 
Published: June 2005

AbstractFor a fully penetrant trait, apparent recombinants between the trait and marker loci result in an estimate of the recombination fraction θ > 0. Given allowance for reduced penetrance and/or sporadic cases, this no longer need be true. In this short communication, we describe conditions under which θ is estimated to be zero despite the presence of apparent recombinants. We demonstrate that even if a large proportion of unaffected individuals are apparent recombinants and the penetrance is moderately high, the lod score may be maximized at θ = 0. Despite maximization at θ = 0, presence of apparent recombinants reduces the maximum lod score in comparison to its value if no apparent recombinants are present. ©1995 Wiley‐Liss, Inc.
Lexical and sentential processing in British Sign Language
Authors: MacSweeney Mairéad , Campbell Ruth , Woll Bencie , Brammer Michael J. , Giampietro Vincent , David Anthony S. , Calvert Gemma A. , McGuire Philip K. 
Published: June 2005

AbstractStudies of spoken and written language suggest that the perception of sentences engages the left anterior and posterior temporal cortex and the left inferior frontal gyrus to a greater extent than nonsententially structured material, such as word lists. This study sought to determine whether the same is true when the language is gestural and perceived visually. Regional neural activity was measured using functional MRI while Deaf and hearing native signers of British Sign Language (BSL) detected semantic anomalies in well‐formed BSL sentences and when they detected nonsense signs in lists of unconnected BSL signs. Processing BSL sentences, when contrasted with signed lists, was reliably associated with greater activation in the posterior portions of the left middle and superior temporal gyri and in the left inferior frontal cortex, but not in the anterior temporal cortex, which was activated to a similar extent whether lists or sentences were processed. Further support for the specificity of these areas for processing the linguistic—rather than visuospatial—features of signed sentences came from a contrast of hearing native signers and hearing sign‐naïve participants. Hearing signers recruited the left posterior temporal and inferior frontal regions during BSL sentence processing to a greater extent than hearing nonsigners. These data suggest that these left perisylvian regions are differentially associated with sentence processing, whatever the modality of the linguistic input. Hum Brain Mapp, 2005. © 2005 Wiley‐Liss, Inc.
Some critical observations on twenty‐first century graduate education in clinical psychology
Authors: Davison Gerald C. 
Published: June 2005

AbstractA number of issues raised in the C.R. Snyder and T.R. Elliott article, “Twenty‐First Century Graduate Education in Clinical Psychology: A Four Level Matrix Model” (this issue), are critically examined: the role of interpersonal and societal factors in understanding the human condition, the desirability of breadth in both undergraduate and graduate education, political and scientific issues in prevention research and application, problems in the use of randomized clinical trials for evaluating psychotherapy, and the efficacy–effectiveness debate in therapy research. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
Clinical psychology in the twenty‐first century: The wheel remains round
Authors: Kendall Philip C. 
Published: June 2005

AbstractThe authors C.R. Snyder and T.R. Elliott in their article, “Twenty‐First Century Graduate Education in Clinical Psychology: A Four Level Matrix Model” (this issue), reflect on the nature of training needed for optimal clinical psychologists, and offer suggestions for such training within a matrix model. Their position is largely consistent with current American Psychological Association preferences and general training guidelines, and has historical precedence. Indeed, the ideas, though not new or radical, are very sound. Amen, the wheel remains round. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
Graduate education in clinical psychology for the twenty‐first century: Educating psychological health care providers
Authors: Levant Ronald F. 
Published: June 2005

AbstractThis comment focuses on a topic that is implied but not explicated in C.R. Snyder and T.R. Elliott's article (this issue): The biopsychosocial model. I begin by discussing the status of health care, taking up in turn its tremendous problems and the negative effects of a system built on mind–body dualism. I argue for a transformation of the biomedical system to a biopsychosocial system. I then discuss the opportunities for psychology and the implications for training. © 2005 Wiley Periodicals, Inc. J Clin Psychol.