bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13
Authors: Mendioroz Jacobo , Fernández‐Toral Joaquín , Suárez Etelvina , López‐Grondona Fermina , Kjaer Klaus W. , Bermejo Eva , Martínez‐Frías María Luisa 
Published: May 2005

AbstractIn 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that has been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal fusion, for a frequency of 1/1,011,577. One had the isolated defect, and the other one that we are describing here, had an MCA pattern similar to that described by Pfeiffer and Kapferer [1988]. We tested HOXD13 but did not find any mutations in exons and intron–exon boundaries. To our knowledge this case is the second one reported with this syndrome. © 2005 Wiley‐Liss, Inc.
Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis
Authors: Rump P. , Zeegers M.P.A. , van Essen A.J. 
Published: May 2005

AbstractBeckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macroglossia, abdominal wall defects, ear anomalies, and an increased risk for embryonic tumors. Reported tumor risk estimates vary between 4% and 21%. It has been hypothesized that tumor predisposition in BWS is related to the imprinting status of the H19 and LIT1 genes on chromosome 11p15. A loss of imprinting (LOI) of H19 implies a higher tumor risk. However, a systematic analysis of available data is lacking. Therefore, we performed a review and meta‐analysis of reported associations between the imprinting status of the LIT1 and H19 genes and the risk for tumor development in BWS. Five publications suitable for meta‐analysis were identified by electronic database searches. Sufficient data were available for 402 out of 520 patients. Patients were divided into four groups based on the imprinting status of H19 and LIT1: group I with LOI of LIT1 (45%); group II with LOI of H19 (9%); group III with LOI of LIT1 and LOI of H19 (21%); and group IV with normal imprinting patterns (26%). Differences in tumor risk between groups were studied with random effects meta‐analysis. Tumors occurred in 55 patients. The odds of tumor development was significantly lower in group I when compared to group II (OR = 0.06; 95% CI: 0.02–0.21) and group III (OR = 0.12; 95% CI: 0.04–0.37). Tumor risk did not differ significantly between groups II and III (OR = 1.40; 95% CI: 0.56–3.50). Compared to group IV, tumor risk was significantly lower in group I (OR = 0.33; 95% CI: 0.12–0.87) and higher in groups II (OR = 4.0; 95% CI: 1.5–10.4) and III (OR = 2.6; 95% CI: 1.2–5.7). Tumor incidence rate for group IV was 10.6% (95% CI: 3.6–17.7). Calculated absolute risks were 3% for group I, 43% for group II, and 28% for group III, respectively. No Wilms tumor was seen in group I. In total, other tumors were seen with comparable frequencies in groups I–III. The results show a strong association between a LOI of H19 and especially Wilms tumor development in BWS. © 2005 Wiley‐Liss, Inc.
Autosomal dominant inheritance of spondyloenchondrodysplasia
Authors: Bhargava R. , Leonard N.J. , Chan A.K.J. , Spranger J. 
Published: May 2005

AbstractSpondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over time, illustrating the evolving phenotype of this condition. Transmission from mother to son suggests that dominant pattern of inheritance is possible. A classification of the enchondromatoses is discussed. © 2005 Wiley‐Liss, Inc.
EMX2‐independent familial schizencephaly: Clinical and genetic analyses
Authors: Tietjen Ian , Erdogan Füsun , Currier Sophie , Apse Kira , Chang Bernard S. , Hill R. Sean , Lee Christine K. , Walsh Christopher A. 
Published: May 2005

AbstractSchizencephaly is a human brain malformation distinguished by full‐thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. However, the comprehensive identification of causative genetic loci is precluded by a lack of large pedigrees and genome‐wide linkage analyses. We present here a large Turkish pedigree with three individuals with schizencephaly. The similarity of clinical signs in affected individuals strongly suggests an underlying genetic cause; however, genome‐wide linkage analysis rules out EMX2 linkage and instead suggests additional candidate loci. These results indicate that genetic forms of schizencephaly are likely to be heterogeneous. © 2005 Wiley‐Liss, Inc.
Are the betaine‐homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?
Authors: Zhu Huiping , Curry Stacey , Wen Shu , Wicker Ned J. , Shaw Gary M. , Lammer Edward J. , Yang Wei , Jafarov Toghrul , Finnell Richard H. 
Published: May 2005

AbstractAbnormalities in folate and/or homocysteine metabolism may adversely influence embryonic development, leading to the birth of infants with a variety of congenital malformations, including neural tube defects (NTDs) and craniofacial abnormalities. Based upon suggestive evidence that periconceptional folic acid supplementation is effective in preventing a significant proportion of the aforementioned birth defects, genetic variation in the folate biosynthetic pathways may influence the infant's susceptibility to these birth defects. The goal of our study was to investigate sequence variations in the betaine‐homocysteine methyltransferase (BHMT) and betaine‐homocysteine methyltransferase (BHMT2) genes as modifiers of risk of spina bifida, cleft palate, and cleft lip and palate. The results of this study indicated that individuals homozygous for the single nucleotide polymorphism R239Q in BHMT did not have elevated risks for spina bifida. Genotype frequencies for the BHMT2 rs626105 polymorphism also did not reveal any elevated risks for spina bifida, and only a modest, imprecise elevation of risk for orofacial clefts. The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population. © 2005 Wiley‐Liss, Inc.
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
Authors: Tadiboyina Venu T. , Rupar Anthony , Atkison Paul , Feigenbaum Annette , Kronick Jonathan , Wang Jian , Hegele Robert A. 
Published: May 2005

AbstractMitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues. Mutations in DGUOK encoding deoxyguanosine kinase (MIM 601465) cause the hepatocerebral form of MDS (MIM 251880). Cystathioninuria (MIM 219500) can result from mutations in CTH encoding cystathionine gamma lyase (MIM 607657) or can be a secondary finding in several diverse clinical conditions. We present three patients from two apparently unrelated old colony Mennonite families, each of whom had the hepatocerebral form of MDS together with cystathioninuria. Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. © 2005 Wiley‐Liss, Inc.
Mesiodistal tooth crown dimensions of the primary dentition: A worldwide survey
Authors: Harris Edward F. , Lease Loren R. 
Published: May 2005

AbstractThis analysis reports on a spatial‐temporal survey of published studies of primary tooth crown dimensions in humans (80 samples). Mesiodistal data are analyzed for the 10 tooth crown dimensions. The purpose was to evaluate the numerous case reports (descriptive analyses of single samples) in the literature in order to assess patterning of variation 1) in tooth size, 2) among tooth types, 3) across sexes, 4) with space (historical affinity), and 5) with time. Sexual dimorphism is low in the primary dentition, averaging 2% across all 10 tooth types. All size distributions of the samples are positively skewed because of megadont native Australians. Europeans, who are most frequently represented in the literature, have the smallest tooth crowns of any continental grouping assessed. The method by Darroch Mosimann ([1985] Biometrika 72:241–252) of reducing size effects was used, basically standardizing the data variable‐wise, and then ordinating groups on their factor scores. Principal components analysis produced just two canonical axes: overall size (68%) and a front‐back (i1‐i2‐c vs. m1‐m2) polarity (11%), based on the intergroup (not ontogenetic) covariance matrix. This second component discriminates between groups with relatively large anterior teeth (Europeans) and those where relatively more tooth substance is apportioned to the molars (Africans and Asians). Size differences predominate over shape between sexes from the same groups. Europeans have small teeth with comparatively large anterior dimensions. Asian and sub‐Saharan African samples share features of average crown size but large cheek teeth. Indian and European samples show considerable overlap on both canonical axes, with average size overall but comparatively large anterior teeth. The few Amerindian samples are too variable to characterize. Based on comparisons of archaeological and living samples, tooth size reductions are documented here for Europe, India, and the Near East compared to tooth sizes of Neolithic and Mesolithic samples. The temporal changes parallel those documented elsewhere for the permanent dentition. The biological and anthropological relevance of these distributions is discussed. Am J Phys Anthropol, 2005. © 2005 Wiley‐Liss, Inc.
Combining process and property models: Development of novel reaction strategies for high‐solids, low‐viscosity latices
Authors: do Amaral Marcelo , van Es Steven , Asua José M. 
Published: May 2005

AbstractMultiple strategies for the synthesis of high‐solids, low‐viscosity latices have been established in modern polymer industry. The basic principle supporting these strategies is the polydispersity of the particle size distribution. However, polymerization procedures are often based on experience, tacit knowledge acquired with time and repetitive trial‐and‐error procedures. Recently, a novel coupled polymerization–viscosity model has been proposed. The model aids screening of potential polymerization strategies. This work presents use of the model as a powerful tool to design new strategies for obtaining highly concentrated aqueous polymer dispersions. By incorporating some simplifying assumptions into the coupled model, the feasibility for synthesizing high‐solids latex with low viscosity using novel polymerization strategies was assessed. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 733–744, 2005
Synthesis of removable and repositionable water‐borne pressure‐sensitive adhesive acrylics
Authors: Czech Zbigniew 
Published: May 2005

AbstractThis publication shows the synthesis of the water‐borne removable pressure‐sensitive adhesive (PSA) based on acrylates and the influence of parameters such as internal emulsifiers on peel adhesion on steel and also the influence of N‐methylol acrylamide and plasticizers on peel adhesion on glass, poly(vinyl chloride), and polypropylene during aging time. Removable and repositionable pressure‐sensitive adhesives based on acrylic polymers are used for the production of removable memo notes, paper and foil labels, double‐sided tapes, carrier‐free tapes to protective films, and manufacturing aids. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 886–892, 2005
Thermal degradation kinetics of polyesters containing mesogenic aromatic diols
Authors: Mule S. A. , Ghadage R. S. , Jacob N. E. , Rajan C. R. , Ponrathnam S. 
Published: May 2005

AbstractA series of polyesters were synthesized by reacting structurally differing aromatic diols with either saturated (flexible) or unsaturated (rigid) dicarboxylic acid halide by a stirred interfacial polycondensation technique. Thermal degradation kinetics of these polyesters were investigated by applying Coats–Redfern and Horowitz–Metzger nonisothermal procedures. The dynamic thermogravimetry experiments were conducted in nitrogen to obtain differential thermogravimetric plots. Thermal stability of these polyesters was discussed on the basis of semiquantitative methods such as differential procedural decomposition temperature, integral procedural decomposition temperature, and fraction decomposition temperature (e.g., 10% DT). Degradation proceeded in multiple stages. The thermal degradation patterns and activation energies in these stages were discussed in relation to central bridging moieties of aromatic diol. The activation energies of these polyesters were found to be in the range of 100 to 200 kJ/mol. The effect of spacer type on activation energy was also reported. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 784–792, 2005
Dioxazoline coupling of maleic anhydride modified polyethylene
Authors: Colbeaux Aimeline , Fenouillot Françoise , Gerard Jean‐François , Taha Mohamed , Wautier Henri 
Published: May 2005

AbstractMaleic anhydride modified polyethylene (PEgMA) coupling reactions were realized using a dioxazoline coupling agent, (1,3‐phenylene)‐bis(2‐oxazoline), in an internal mixer. In preliminary studies and in model reactions, it was shown that anhydride/oxazoline reactions were very slow or nonexistent compared to acid/oxazoline reactions. The main observed coupling is due to acids resulting from anhydride hydration. In a second part, the coupling reactions were preceded by an anhydride hydration realized by direct injection of different water quantities. In these cases, the couplings were more efficient than when PEgMA were directly used. At high temperature some of the formed succinic acids were dehydrated, leading to the initial succinic anhydrides. The study of the effect of the molar ratio of oxazoline/anhydride on the PEgMA coupling showed that the maximum apparent coupling was obtained when the ratio was 4. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 837–843, 2005
Electron beam irradiation of ethylene‐propylene terpolymer: Evaluation of trimethylol propane trimethacrylate as a crosslink promoter
Authors: Chowdhury Rajesh , Banerji M. S. 
Published: May 2005

AbstractThe effect of electron beam irradiation on ethylene‐propylene terpolymer (EPDM) was investigated. A 50‐part oil‐extended EPDM with high termonomer (ENB) content (iodine number of base polymer) 19, was selected for this study. An increase in irradiation dose from 0 to 200 kGy resulted in increased crosslinking, measured by an increase in gel contents and better swelling resistance. The effect of the multifunctional monomer trimethylol propane trimethacrylate (TMPTMA) as a crosslink promoter was studied using IR spectroscopy. The IR studies revealed enhanced peak absorbances at 1725, 1257, and 1023 cm−1 as a result of the increased concentration of C = O and C‐O‐C groups and reduced absorbance at 1630 cm−1 due decreased concentration of C = C groups with TMPTMA level in the irradiated samples. The presence of TMPTMA increased the level of crosslinking at a given irradiation dose, which was manifested by improvement in tensile properties. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 968–975, 2005
Evolution in the natural rubber native structure and plasticity retention index from the first tapping of clonal trees
Authors: Bonfils F. , Doumbia A. , Char C. , Beuve J. Sainte 
Published: May 2005

AbstractThis study was carried out with five rubber clones planted in Côte d'Ivoire from the first tapping up to the 18th month of tree tapping (1 tapping/4 days). Changes in the natural rubber native mesostructure (macromolecular structure, macrogel, and microgel) of films prepared from fresh field latex were monitored. At the same time, the evolution of the thermooxidation sensitivity of raw rubber samples [grade 10 technically specified rubber (TSR10)] was also monitored with the plasticity retention index (PRI). The substantial initial macrogel rate (70–86%, depending on the clone) fell during the first 18 months of tree tapping to reach a few percent. However, during the same period, the initially low microgel rate (5–15%) increased and then remain stabilized around 55% rubber. The macromolecular structure [weight‐average molecular weight (Mw) and molar mass distribution (MMD)] also changed after tree opening. Mw increased and stabilized after 7.5 months of tapping. The bimodal MMD primarily involved short chains (molar mass < 400 kg/mol) at the opening of the trees. The TSR10 samples, prepared with latex from virgin trees, showed high PRIs and, therefore, low sensitivity to thermooxidation. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 903–909, 2005
Acrylic weak‐base anion exchangers and their behaviors in the retention process of some heavy‐metal cations
Authors: Luca Cornelia , Măruţă Cristina , Bunia Ion , Urmenyi Ana Maria , Sandu Mihaela , Raţă Daniela 
Published: May 2005

AbstractTwo macroporous acrylonitrile/10% vinyl acetate/10% divinylbenzene copolymers as beads were obtained by the aqueous suspension copolymerization of the three comonomers in the presence of toluene as a diluent, which was used in two different amounts. These copolymers were chemically modified by their reactions with ethylenediamine, diethylenetriamine, and triethylenetetramine in the presence of water when the aminolysis–hydrolysis reaction of the nitrile groups and the hydrolysis reaction of the acetate groups occurred. From these reactions, weak‐base anion exchangers with high ion‐exchange capacities, between 1.6 and 2.2 mequiv/mL and 6.5 and 10.5 mequiv/g, were obtained. For these anion exchangers, the behaviors in the retention processes of the Ni(II), Cd(II), and Pb(II) cations were evaluated with the bath method. All the resins exhibited retention properties, but the retained amounts of the metal cations differed as a function of the resin and cation nature. Thus, the resin from the reaction with triethylenetetramine of the copolymer obtained in the presence of a larger amount of toluene could be considered the most suitable sorbent for the three metal cations, especially for Ni(II). Its maximum retention capacity for this cation was 2.67 mequiv/g of dried resin. From the noncompetitive and competitive retentions was observed the following selectivity order: Ni(II) > Cd(II) > Pb(II). The retention took place by the chelating processes between the functional groups with the ligand role, especially free amine groups, and metal cations. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 930–938, 2005
Optimization of pulsed electromagnetic field therapy for management of arthritis in rats
Authors: Kumar Venkatachalam Senthil , Kumar Dilly Ashok , Kalaivani Kalyanasundaram , Gangadharan Akkalayi Chandrapuram , Raju K.V.S. Narayana , Thejomoorthy Pammi , Manohar Bhakthavatchalam Murali , Puvanakrishnan Rengarajulu 
Published: May 2005

AbstractStudies were undertaken to find out the effects of low frequency pulsed electromagnetic field (PEMF) in adjuvant induced arthritis (AIA) in rats, a widely used model for screening potential therapies for rheumatoid arthritis (RA). AIA was induced by an intradermal injection of a suspension of heat killed Mycobacterium tuberculosis (500 μg/0.1 ml) into the right hind paw of male Wistar rats. This resulted in swelling, loss of body weight, increase in paw volume as well as the activity of lysosomal enzymes viz., acid phosphatase, cathepsin D, and β‐glucuronidase and significant radiological and histological changes. PEMF therapy for arthritis involved optimization of three significant factors, viz., frequency, intensity, and duration; and the waveform used is sinusoidal. The use of factorial design in lieu of conventional method resulted in the development of an ideal combination of these factors. PEMF was applied using a Fransleau–Braunbeck coil system. A magnetic field of 5 Hz × 4 μT × 90 min was found to be optimal in lowering the paw edema volume and decreasing the activity of lysosomal enzymes. Soft tissue swelling was shown to be reduced as evidenced by radiology. Histological studies confirmed reduction in inflammatory cells infiltration, hyperplasia, and hypertrophy of cells lining synovial membrane. PEMF was also shown to have a membrane stabilizing action by significantly inhibiting the rate of release of β‐glucuronidase from lysosomal rich and sub‐cellular fractions. The results indicated that PEMF could be developed as a potential therapy in the treatment of arthritis in humans. Bioelectromagnetics 26:431–439, 2005. © 2005 Wiley‐Liss, Inc.
Effects of GSM signals on auditory evoked responses
Authors: Maby E. , Jeannès R. Le Bouquin , Faucon G. , Liégeois‐Chauvel C. , De Sèze R. 
Published: May 2005

AbstractThe article presents a study of the influence of radio frequency (RF) fields emitted by mobile phones on human cerebral activity. Our work was based on the study of Auditory Evoked Potentials (AEPs) recorded on the scalp of healthy humans and epileptic patients. The protocol allowed us to compare AEPs recorded with or without exposure to RFs. To get a reference, a control session was also introduced. In this study, the correlation coefficients computed between AEPs, as well as the correlation coefficients between spectra of AEPs were investigated to detect a possible difference due to RFs. A difference in the correlation coefficients computed in control and experimental sessions was observed, but it was difficult to deduce the effect of RFs on human health. Bioelectromagnetics 26:341–350, 2005. © 2005 Wiley‐Liss, Inc.