bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome
Authors: Gurrieri Fiorella , Scarano Gioacchino , Garavelli Livia , Monica Matteo Della , Lonardo Fortunato , Cuda Domenico , Banchini Giacomo , Opitz John M. , Neri Giovanni 
Published: March 2004

AbstractRecently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition. © 2003 Wiley‐Liss, Inc.
Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia
Authors: Akahoshi Keiko , Spritz Richard A. , Fukai Kazuyoshi , Mitsui Norimasa , Matsushima Kazushige , Ohashi Hirofumi 
Published: March 2004

AbstractAssociation of the pink‐eye‐dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous albinism type 2 (OCA2) and Prader–Willi syndrome (PWS) or Angelman syndrome (AS). However, it remains unknown whether duplication or amplification of the P gene causes hyperpigmentation. We previously reported a woman who had hyperpigmentation with a duplication of the proximal part of 15q, including the P gene. Here, we describe an additional patient with mosaicism of inv dup(15) and clinical manifestations of severe psychmoter retardation, epilepsy, and pigmentary dysplasia showing mottled and linear patterns of hyperpigmentation. His karyotype was 47,XY,+idic(15)(pter→q14::q14→pter)[38]/46,XY[12] de novo. Chromosomal fluorescence in situ hybridization (FISH) showed six copies of the P gene. Therefore, his cutaneous mosaicism might be caused by the presence of both normal and hyperpigmented skin due to multicopies of the P gene. © 2003 Wiley‐Liss, Inc.
Impact on couple relationships of predictive testing for Huntington disease: A longitudinal study
Authors: Richards Fiona , Williams Katrina 
Published: March 2004

AbstractSince predictive testing has been available for Huntington disease (HD) and similar adult‐onset neurodegenerative disorders, research into the psychosocial impact of test results has focussed on those receiving results, and to a lesser extent, on their partners. Few studies have examined the impact of predictive testing on the couple relationship, particularly from the perspective of family systems theory. This longitudinal study compared the level of marital adjustment of 23 couples in which the at‐risk partner is undergoing predictive testing for HD (the testing group) with that of 20 couples in which the at‐risk partner is not undergoing testing (the non‐testing group). Participating couples completed a relationship measure, the Dyadic Adjustment Scale, at baseline and on two subsequent occasions. Using non‐parametric tests, comparisons were made at each phase between the couple scores of the testing and non‐testing groups but no significant differences were found in the levels of marital adjustment. Within the testing group the same comparisons were made for the carrier and non‐carrier subgroups, and a significant difference was found at the final phase. There was an increase in the level of marital adjustment for the carrier group and a decrease for the non‐carrier group. Together with trends observed in the data, this finding suggests a need for greater attention to be given to the potential impact of predictive testing on the couple relationship. Offering couples pre‐result relationship assessment and referral for couple therapy, if warranted, may enhance the quality of professional support during the predictive testing process. © 2003 Wiley‐Liss, Inc.
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey
Authors: Machado‐Ferreira Maria do Carmo , Costa‐Lima Marcelo A. , Boy Raquel T. , Esteves Gabriela S. , Pimentel Márcia M.G. 
Published: March 2004

AbstractFragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5′ UTR region of the gene FMR‐1. Four types of alleles can be identified in the population, based on the number of repeats: normal (6–40), gray‐zone (41–60), premutated (61–200), and fully mutated (>200). Despite only full mutations being associated with the development of the disorder, some authors propose a correlation between FRAXA premutation and the occurrence of premature ovarian failure (POF). We have undertaken a study in 58 women from 24 fragile X syndrome families ascertained for FRAXA testing. Using Southern blotting for direct DNA analysis we have identified 19 normal, 33 premutation carriers, and 6 fully mutated individuals (including 4 somatic mosaics showing premutated and fully mutated alleles). Among the premutated women, 11 experienced menopause before the age of 40 (POF), including one somatic mosaic, which was different from the ones with normal pattern who did not experience POF. Our data corroborate the notion that females carrying alleles in the premutation range are at high risk of experiencing POF. © 2004 Wiley‐Liss, Inc.
Sibpair studies implicate chromosome 18 in essential hypertension
Authors: Rutherford Sue , Johnson Matthew P. , Griffiths Lyn R. 
Published: March 2004

AbstractInterest in chromosome 18 in essential hypertension comes from comparative mapping of rat blood pressure quantitative trait loci (QTL), familial orthostatic hypotensive syndrome studies, and essential hypertension pedigree linkage analyses indicating that a locus or loci on human chromosome 18 may play a role in hypertension development. To further investigate involvement of chromosome 18 in human essential hypertension, the present study utilized a linkage scan approach to genotype twelve microsatellite markers spanning human chromosome 18 in 177 Australian Caucasian hypertensive (HT) sibling pairs. Linkage analysis showed significant excess allele sharing of the D18S61 marker when analyzed with SPLINK (P = 0.00012), ANALYZE (Sibpair) (P = 0.0081), and also with MAPMAKER SIBS (P = 0.0001). Similarly, the D18S59 marker also showed evidence for excess allele sharing when analyzed with SPLINK (P = 0.016), ANALYZE (Sibpair) (P = 0.0095), and with MAPMAKER SIBS (P = 0.014). The adenylate cyclase activating polypeptide 1 gene (ADCYAP1) is involved in vasodilation and has been co‐localized to the D18S59 marker. Results testing a microsatellite marker in the 3′ untranslated region of ADCYAP1 in age and gender matched HT and normotensive (NT) individuals showed possible association with hypertension (P = 0.038; Monte Carlo P = 0.02), but not with obesity. The present study shows a chromosome 18 role in essential hypertension and indicates that the genomic region near the ADCYAP1 gene or perhaps the gene itself may be implicated. Further investigation is required to conclusively determine the extent to which ADCYAP1 polymorphisms are involved in essential hypertension. © 2003 Wiley‐Liss, Inc.
Exclusion of candidate genes in a family with arterial tortuosity syndrome
Authors: Gardella Rita , Zoppi Nicoletta , Assanelli Deodato , Muiesan Maria Lorenza , Barlati Sergio , Colombi Marina 
Published: March 2004

AbstractArterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint laxity, suggestive of a connective tissue disorder. ATS is transmitted in an autosomal recessive mode, but the causal gene is unknown. We report an Italian pedigree with three inbred families in which five patients show signs of ATS. In particular, four adult patients present arterial tortuosity and elongation of the main arteries. Two of these patients, with the most severe degree of arterial tortuosity, also show severe peripheral stenosis of the main pulmonary artery. The fifth young patient shows a severe pulmonary valve stenosis in the absence of arterial tortuosity. All patients show signs of Ehlers–Danlos syndrome (EDS): soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix (ECM) of fibronectin (FN) and of actin microfilaments in cultured skin fibroblasts. Linkage analysis of the genes involved in EDS and other connective tissue disorders, excluded COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, ADAMTS2, ELN, FN1, TNXA, and TNXB as candidate genes in the family under study, thus indicating that ATS is a distinct clinical and molecular entity. © 2003 Wiley‐Liss, Inc.
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome
Authors: von Bubnoff Dagmar , Kreiß‐Nachtsheim Martina , Novak Natalija , Engels Eva , Engels Hartmut , Behrend Claudia , Propping Peter , de la Salle Henri , Bieber Thomas 
Published: March 2004

AbstractWe describe a 34‐year‐old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. Chromosome analysis disclosed a mosaic 46,XY,del(11)(q24.1)/46,XY karyotype with a very low percentage of normal cells. In addition, transverse upper limb defect, imperforate anus, and hearing impairment were noted. Cellular anomalies include functional impairment and deficiency of T‐helper cells, and a low serum immunoglobulin M (IgM)‐level. The presence of a transverse limb defect and primary immunodeficiency has not been reported previously in Jacobsen syndrome. © 2003 Wiley‐Liss, Inc.
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
Authors: Brunetti‐Pierri Nicola , Mendoza‐Londono Roberto , Shah Maulik R. , Karaviti Lefkothea , Lee Brendan 
Published: March 2004

AbstractWe report a 16‐month‐old patient with meningoencephalocele, absence of the radii, ambiguous genitalia, and transient neonatal thrombocytopenia. The phenotype strongly suggests the von Voss‐Cherstvoy syndrome. Thrombocytopenia was present during the first 2 weeks of life and not found in subsequent determinations. This observation suggests that thrombocytopenia is a transient part of the syndrome. Among the patients reported so far our case appears to represent the mildest phenotype. Despite the neonatal complications and meningoencephalocele, the patient currently has normal psychomotor development. © 2003 Wiley‐Liss, Inc.
Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations
Authors: Dörk Thilo , Bendix‐Waltes Regina , Wegner Rolf‐Dieter , Stumm Markus 
Published: March 2004

AbstractAtaxia‐telangiectasia (A‐T) is caused by mutations of the ATM gene, the product of which is involved in the regulation of cellular responses to radiation damage. Ataxia usually starts in early childhood but a delayed age at onset and slower rate of neurological deterioration has been found for some patients with variant A‐T. Only few patients have been documented to survive into the 4th decade. We report on a patient with an attenuated form of A‐T who was diagnosed as having A‐T by the age of 52 years and died by the age of 60 years. He was found to be a compound heterozygote for a double missense mutation (D2625E and A2626P) and a novel splicing mutation (496 + 5G → A) of the ATM gene. Cytogenetic studies of the patient's lymphoblastoid cells revealed modest levels of bleomycin‐induced chromosomal instability. Residual ATM protein was found at a level of 10–20% of wildtype. Low residual ATM kinase activity could be demonstrated towards p53, whereas it was poorly detectable towards nibrin. Our results corroborate the view that the clinical variability of A‐T is partly determined by the mutation type and indicate that A‐T can extend to late adulthood disease. © 2003 Wiley‐Liss, Inc.
Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins
Authors: Cunha E. , Rozzi F. Ramirez , Bermúdez De Castro J.M. , Martinón‐Torres M. , Wasterlain S.N. , Sarmiento S. 
Published: March 2004

AbstractThis study presents an analysis of linear enamel hypoplasias (LEH) and plane‐form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7–30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning. Am J Phys Anthropol 123:000–000, 2004. © 2004 Wiley‐Liss, Inc.
Production of polymeric membranes made of polypropylene, poly(ethylene‐co‐vinyl acetate), and poly(vinyl alcohol)
Authors: Maciel A. , Aguilar M. , Luis A. , Manero O. 
Published: March 2004

AbstractIn this study, we prepared and characterized membranes containing polypropylene, poly(ethylene‐co‐vinyl acetate) (EVA), and poly(vinyl alcohol) (PVA). The production process involved blend extrusion and calendering followed by solvent extraction by toluene and water of the EVA and PVA phases. Morphology studies involving scanning electron microscopy determined the pore size distribution at the surface and in the internal regions of the membrane. The resulting membrane properties were related to the processing variables (extension rate, process temperature, and solvent extraction methods) and blend composition. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3275–3286, 2004
Preparation and structural characterization of melamine–methylurea–formaldehyde resin and its blends separately with ethyl cellulose, starch, teakwood, and almond shell powders by 13C NMR, IR, TGA, and SEM techniques
Authors: Singh Man 
Published: March 2004

AbstractMelamine–methylurea–formaldehyde (MMUF) polymer resin was prepared by condensation polymerization and the molecular weight was determined by viscometry. It was blended with dried starch and ethyl cellulose, and cellulose and hemicellulose‐rich teakwood and lignocellulose‐rich almond shell dried powders separately. The structural characterization of resin with 13C NMR and IR spectroscopy, and morphological studies on the resin and blends were undertaken with thermogravimetric analysis (TGA) and Scanning Electron Microscopy (SEM). The micrographs of the starch and ethyl cellulose have found resemblance with pure resin while teakwood and almond powders have been found to differ in structure from starch and ethyl cellulose due to crack masks in the bulk structure. The different weight loss at different temperatures of the blends was observed, which proves that blending materials do control the weight loss of resin with TGA or curing. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3437–3446, 2004
Synthesis and properties of new poly(amide imide)s containing trimellitic rings and hydantoin moieties in the main chain under microwave irradiation
Authors: Faghihi Khalil , Hajibeygi Mohsen 
Published: March 2004

AbstractTrimellitic anhydride was reacted with 4,4′‐diaminodiphenyl ether in a mixture of acetic acid and pyridine (3 : 2) at room temperature and was refluxed at 90–100°C, and N,N′‐(4,4′‐diphenylether) bistrimellitimide (3) was obtained in a quantitative yield. 3 was converted into N,N′‐(4,4′‐diphenylether) bistrimellitimide diacid chloride (4) by a reaction with thionyl chloride. Then, six new poly(amide imide)s were synthesized under microwave irradiation with a domestic microwave oven through the polycondensation reactions of 4 with six different derivatives of 5,5‐disubstituted hydantoin in the presence of a small amount of a polar organic medium such as o‐cresol. The polycondensation proceeded rapidly and was completed within 7–10 min, producing a series of new poly(amide imide)s in high yields with inherent viscosities of 0.27–0.66 dL/g. The resulting poly(amide imide)s were characterized by elemental analysis, viscosity measurements, differential scanning calorimetry, thermogravimetric analysis, derivative thermogravimetry, solubility testing, and Fourier transform infrared spectroscopy. All the polymers were soluble at room temperature in polar solvents such as N,N‐dimethylacetamide, N,N‐dimethylformamide, dimethyl sulfoxide, tetrahydrofuran, and N‐methyl‐2‐pyrrolidone. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3447–3453, 2004
Thermal behavior of some homogeneously polymethyl methacrylate (PMMA)‐grafted high α‐cellulose products
Authors: Das Pradeep , Saikia C. N. , Dass N. N. 
Published: March 2004

AbstractThe graft copolymerization of methyl methacrylate (MMA) onto high α‐cellulose was carried out homogeneously in an N,N‐dimethyl acetamide/lithium chloride solvent system by using benzoyl peroxide as radical initiator. The rate of grafting was evaluated as a function of concentrations of initiator and monomer, reaction time, and temperature. The grafted products were characterized with the help of infrared spectroscopy, whereas the thermal decomposition of optimum PMMA‐grafted high α‐cellulose was studied using TGA, DTG, and DTA techniques at two heating rates, 10 and 20°C/min, in nitrogen atmosphere in the range of room temperature to 650°C. Three major decomposition steps were identified and the relative thermal stabilities of the PMMA‐grafted high α‐cellulose products were assessed. The kinetic parameters for the three decomposition steps were estimated with the help of two well‐known methods. The thermal stability of the grafted products decreased with the increase of graft yield (GY). Crystallinity or peak intensity of wide‐angle X‐ray diffraction patterns decreased with the increase of GY. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3471–3478, 2004
Synthesis and characterization of hetarylazo disperse dyes derived from substituted N‐β‐acetoxyethylanilines—Application on cellulose acetate
Authors: Georgiadou Kyriaki L. , Tsatsaroni Eforia G. , Kehayoglou Aristides H. 
Published: March 2004

AbstractThe heterocyclic amines 2‐amino‐6‐methoxy‐ and 2‐amino‐6‐nitrobenzothiazole, 3‐amino‐5‐nitro‐[2,1]‐benzisothiazole, and 2‐amino‐3,5‐dinitrothiophene were diazotized and coupled to substituted N‐β‐acetoxyethylanilines to give dyes which colored cellulose acetate in red to deep blue hues. The color of the dyes is discussed with respect to the nature of the heterocyclic ring and to the substituents in the diazo and coupling component. Dyeing and fastness properties of the dyes on cellulose acetate are also reported. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3479–3483, 2004
Photopolymerization kinetics of an epoxy‐based resin for stereolithography
Authors: Esposito Corcione C. , Greco A. , Maffezzoli A. 
Published: March 2004

AbstractCuring reactions of photoactivated epoxy resins are assuming an increasing relevance in many industrial applications, such as coatings, printing, and adhesives. Besides these processes, stereolithography (SL) makes use of photoactivated resins in a laser‐induced polymerization for 3D building. The kinetic behavior of photocuring is a key point for full comprehension of the cure conditions occurring in the small zone irradiated by the laser beam during the building process. Furthermore, the kinetic analysis is very important to determine the cure time needed for part building in a stereolithographic equipment. The mechanisms involved in a cationic photopolymerization are complex compared with radical photopolymerization. In this paper the photoinitiated polymerization of a commercially available epoxy‐based resin for stereolithography (SL5170) was studied by means of differential scanning calorimetry (DSC) and Fourier transform infrared spectroscopy (FTIR). Substantial information about the SL5170 chemical composition and curing mechanism was determined through FTIR analysis. The polymerization rate and the maximum degree of reaction were determined directly from experimental DSC curves. Kinetic characterization of epoxy photopolymerization was carried out as a function of the temperature and irradiation intensity and experimental results were compared with an original mathematical model. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3484–3491, 2004
Natural rubber/ethylene propylene diene blends for high insulation iron crossarms
Authors: Kiatkamjornwong Suda , Pairpisit Kornteenee 
Published: March 2004

AbstractThis research studied the composition and behavior of natural rubber (NR) and ethylene propylene diene monomer (EPDM) blends at various carbon black concentrations (0–30 phr) in terms of electrical resistivity, dielectric breakdown voltage testing, and physical properties. The blends having electrical properties suitable for application in high‐insulation iron crossarms were selected for investigation of compatibility and increased physical properties. The effect of the homogenizing agent concentration on improvement of compatibility of blends was studied by scanning electron microscopy, pulsed nuclear magnetic resonance spectroscopy, and rheology techniques. We also examined mechanical properties such as tensile strength, tear strength, elongation at break, and hardness. The NR/EPDM blends filled with a fixed concentration of silica were investigated for ozone resistance. A carbon black content as high as 10 phr is still suitable for the insulation coating material, which can withstand electrical voltage at 10 kVac. Addition of the homogenizing agent at 5 phr can improve the mechanical compatibility of blends, as evidenced by the positive deviation of shear viscosity of the rubber blend, that is, the calculated shear viscosity being higher than that of experimental data. Moreover, the pulsed NMR results indicated that the spin‐spin relaxation (T2) of all three components of the rubber blend was compressed upon the addition of the homogenizing agent. The ratio of NR/EPDM in the blend to best resist the ozone gas is 80/20 with the addition of silica of 30 phr into the blend. Also, the NR/EPDM filled with silica had a decreased change in thermal and mechanical properties of blends after thermal aging. The synergistic effect of silica content and high NR content (80) in 20 phr EPDM could improve antioxidation by ozone in the absence of a normal antioxidant for natural rubber. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3401–3416, 2004