bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
Authors: Djoussé L. , Knowlton B. , Hayden M. , Almqvist E.W. , Brinkman R. , Ross C. , Margolis R. , Rosenblatt A. , Durr A. , Dode C. , Morrison P.J. , Novelletto A. , Frontali M. , Trent R.J.A. , McCusker E. , Gómez‐Tortosa E. , Mayo D. , Jones R. , Zanko A. , Nance M. , Abramson R. , Suchowersky O. , Paulsen J. , Harrison M. , Yang Q. , Cupples L.A. , Gusella J.F. , MacDonald M.E. , Myers R.H. 
Published: May 2003

AbstractHuntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD‐MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47–83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats. © 2003 Wiley‐Liss, Inc.
Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms
Authors: Luzzani S. , Macchini F. , Valadè A. , Milani D. , Selicorni A. 
Published: May 2003

AbstractAs previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS (mild/classical according to Van Allen classification) were evaluated in a series of 43 patients. The pattern of presenting symptoms and their clinical evolution after medical or surgical treatment were also studied. A pathological GER was evident in 28/43 (65%) CDLS patients. The incidence of the complication was not significantly different in patients with classical (93.3%) vs. mild phenotype (82.3%), whereas a strong correlation was present between the degree of the esophageal damage and the clinical phenotype. A behavioral symptom (hyperactivity) was the most frequent sign associated with the condition (85%). Our data confirm the high occurrence of GER in CDLS patients, independently from the CDLS clinical phenotype. Regarding the severity of the esophageal lesions, a significant difference between the two clinical CDLS phenotypes was found. The evaluation of the presenting symptoms and of their evolution during the treatment emphasizes the importance of behavioral symptoms as major signs of esophageal damage in CDLS. © 2003 Wiley‐Liss, Inc.
New variant of acro‐renal field defect
Authors: Scheuerman Oded , Horev Gadi , Merlob Paul 
Published: May 2003

AbstractWe describe two patients with a new variant of acro‐renal field defect. The first was a full‐term, small‐for‐gestational‐age female infant who showed preaxial polydactyly of the right hand and horseshoe kidney on abdominal ultrasonographic examination. In addition, there was a single umbilical artery and some mild facial errors of morphogenesis. The second patient, a full‐term male infant, had horseshoe kidney and left hand ectrodactyly. Various renal abnormalities have been described in the literature, but there are no reports on horseshoe kidney as part of acro‐renal field defect. We suggest that acro‐renal field defect should not be regarded as a definitive diagnosis, but only as a starting point for the search for various conditions. © 2003 Wiley‐Liss, Inc.
Interaction of genetic counselors with molecular genetic testing laboratories: Implications for non‐geneticist health care providers
Authors: McGovern Margaret M. , Benach Marta , Zinberg Randi 
Published: May 2003

AbstractThe availability of molecular genetic tests for the identification of mutant gene carriers, and for assessing individual genetic response to pharmacologic agents, infectious agents, and other environmental exposures, is expected to result in the increased use of the molecular genetic testing laboratory by primary care physicians. However, a number of concerns have been raised about such testing including the need for safeguards to protect patient privacy, and if the interface between genetic testing laboratories and the ordering physician facilitates the appropriate clinical use of the test result. In this study, genetic counselors were surveyed to determine their practices with regard to the clinical issues of informed consent and confidentiality in the context of genetic testing, and to assess their level of satisfaction with the reporting practices of molecular genetic testing laboratories. The results of this survey revealed that there is variability in the practices of genetic counselors with regard to obtaining informed consent, and that there are areas for improvement with regard to molecular genetic test reports, particularly in terms of interpretation of results. © 2003 Wiley‐Liss, Inc.
Deletion of the SHOX gene in patients with short stature of unknown cause
Authors: Morizio E. , Stuppia L. , Gatta V. , Fantasia D. , Guanciali Franchi P. , Rinaldi MM , Scarano G. , Concolino D. , Giannotti A. , Verrotti A. , Chiarelli F. , Calabrese G. , Palka G. 
Published: May 2003

AbstractA fluorescence in situ hybridization (FISH) study was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population. FISH analysis was carried out on metaphase spreads and interphase lymphocytes from blood smears using a probe specific for the SHOX gene. Deletion of SHOX was found in four patients (7.1%). No skeletal abnormalities were detected in these patients either at the physical examination or at X‐rays of the upper and lower limbs. Present results indicate that SHOX plays an important role also in short stature of unknown cause, and FISH analysis appears as an easy, appropriate, and inexpensive method for the detection of SHOX deletion. © 2003 Wiley‐Liss, Inc.
Understanding why negative genetic test results sometimes fail to reassure
Authors: Michie Susan , Smith Jonathan A. , Senior Victoria , Marteau Theresa M. 
Published: May 2003

AbstractA proportion of those receiving negative results following predictive genetic testing desire future bowel screening. This is despite a negative result meaning a general population risk of 1:7,500 and despite bowel screening being experienced as aversive and clinically unnecessary. This study aimed to investigate perceptions of risk, illness, and tests amongst those receiving negative results following predictive genetic testing. Interviews with nine people receiving negative genetic test results for familial adenomatous polyposis (FAP) were analyzed using the qualitative method, interpretative phenomenological analysis (IPA). Those not reassured by negative genetic test results perceived a continuing risk to themselves and to their children. Two sets of perceptions emerged that might explain this: (1) perceptions of the genetic basis of the condition (FAP). Although the condition was perceived to be genetic, genetic status was seen as transient, so a result today could not predict the future. The condition was also seen as caused by factors other than genes, so information about only one risk factor could not be reassuring. (2) Perceptions of the genetic test. There was a lack of conviction in the ability of the genetic test, based on a blood sample, to predict a disease located in the bowel. These results suggest that some individuals receiving negative test results are not reassured because of their representations of the cause of their condition and the nature of the tests they undergo. It may be that eliciting and, when appropriate, changing people's representations prior to testing may enable those receiving negative results to be more reassured about their residual risk. © 2003 Wiley‐Liss, Inc.
Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high‐risk Brazilian patients
Authors: Castilhos Cristina D. , Mello Alexandre S. , Burin Maira G. , Guidobono Régis R. , Gotardo Silvane , Giugliani Roberto , Coelho Janice C. 
Published: May 2003

AbstractLysosomal storage disorders (LSD) present great clinical variability. Included in this group are sialic acid metabolism disorders (SAMD). In the present study, we describe the application of a 3‐step protocol for the diagnosis of SAMD, including (1) oligosaccharide and sialyloligosaccharide chromatography; (2) quantitative determination of sialic acid; and (3) measurement of neuraminidase activity. Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis. Due to its simplicity and efficiency, we propose the use of this protocol for the diagnostic evaluation of patients with suspected SAMD, which could be specially useful to non‐specialized laboratories and to services located in developing countries. © 2003 Wiley‐Liss, Inc.
Occlusal relief changes with molar wear in Pan troglodytes troglodytes and Gorilla gorilla gorilla
Authors: M'kirera Francis , Ungar Peter S. 
Published: May 2003

AbstractMost research on primate tooth form–function relationships has focused on unworn teeth. This study presents a morphological comparison of variably worn lower second molars (M2s) of lowland gorillas (Gorilla gorilla gorilla; n=47) and common chimpanzees (Pan troglodytes troglodytes; n=54) using dental topographic analysis. High‐resolution replicas of occlusal surfaces were prepared and scanned in 3D by laser scanning. The resulting elevation data were used to create a geographic information system (GIS) for each tooth. Occlusal relief, defined as the ratio of 3D surface area to 2D planometric area of the occlusal table, was calculated and compared between wear stages, taxa, and sexes. The results failed to show a difference in occlusal relief between males and females of a given taxon, but did evince differences between wear stages and between taxa. A lack of significant interaction between wear stage and taxon factors suggests that differences in occlusal relief between chimpanzees and gorillas are maintained throughout the wear sequence. These results add to a growing body of information on how molar teeth change with wear, and how differences between primate species are maintained at comparable points throughout the wear sequence. Such studies provide new insights into form–function relationships, which will allow us to infer certain aspects of diet in fossils with worn teeth. Am. J. Primatol. 60:31–41, 2003.
Resting energy metabolism of Goeldi's monkey (Callimico goeldii) is similar to that of Other callitrichids
Authors: Power Michael L. , Tardif Suzette D. , Power Rachel A. , Layne Donna G. 
Published: May 2003

AbstractThe resting metabolic rates (RMRs) of six adult Goeldi's monkeys (Callimico goeldii) were measured using standard methods of open circuit respirometry during both the active (daytime) and inactive (nighttime) circadian phases for this species. One subject was measured both while she was pregnant and after she delivered a full‐term, stillborn infant. Inactive‐phase RMR within thermal neutrality (above 27.5°C) averaged 288.5±30.8 ml O2/hr; active‐phase RMR within thermal neutrality averaged 416.3±60.9 ml O2/hr. These values are 74.6% and 107.6%, respectively, of the mammalian expected for animals of this body mass. During the inactive phase, metabolic rate increased an estimated 4.3% for every degree decline in temperature below 27.5°C. The RMR in Goeldi's monkey is similar quantitatively and qualitatively to those of other captive callitrichids that have been studied, with active‐phase RMR being at or slightly above the mammalian expected, and inactive‐phase RMR being significantly reduced. We propose that this circadian pattern of RMR is a consequence of small body size, and is not a specific metabolic adaptation within the Callitrichidae. Thus we predict that metabolic studies measuring both circadian phases in other small primates will also find this pattern of reduced RMR during the inactive phase. The inactive‐phase RMR within thermal neutrality of the pregnant female was not different from that measured after the stillbirth, despite an almost 15% difference in body mass. During pregnancy, however, the female was more metabolically responsive to temperature below thermal neutrality, and had a lower upper critical temperature (i.e., was less tolerant of heat). Am. J. Primatol. 60:57–67, 2003. © 2003 Wiley‐Liss, Inc.
New method to census primate groups: Estimating group density of Japanese macaques by point census
Authors: Hanya Goro , Yoshihiro Shinichi , Zamma Koichiro , Kubo Ritsuko , Takahata Yukio 
Published: May 2003

AbstractWe devised a new method to estimate the density of primate groups in habitats that preclude the use of a line‐transect census because the ground is too steep. We combined point census and group follows. From the number of groups counted at a fixed point for an hour, n, group density D was calculated: $D = {{\lambda n} \over \pi}$. λ, the detectability constant, was a constant when distance‐dependent detectability g(y) was regressed on a half‐normal model: g(y) = e‐λ2 and can be estimated by combining the information of group follow and point census. Using this method, we estimated the group density of Japanese macaques in Yakushima. A census area of 7 km2 was divided into 28 grid squares (500 m×500 m). One observer was positioned at a point in each grid square, and those points were censused simultaneously for 4–6 days from 0600–0700 to 1500–1600 hr. Four troops were followed for 144 hr during the point census. Distance‐dependent detectability closely correlated with the half‐normal model. The detectability constant varied with the time of day, but it was not influenced by troop identity or topography. Group density was calculated to be 1.48±0.61 and 0.701±0.432 groups/km2 in the disturbed and undisturbed areas, respectively (95% confidence limit). “True” group density estimated by home range data was within the confidence limit calculated by a point census in the home range of the troops for two troops, suggesting that this method was valid. This method is applicable to other species as long as at least one group can be followed, because it satisfies the fundamental assumptions of point census, and the detectability does not seem to be biased by troop or topography. Am. J. Primatol. 60:43–56, 2003.
Preparation and characterization of amphiphilic block copolymer of polyacrylonitrile‐block‐poly(ethylene oxide)
Authors: Sui Kunyan , Gu Lixia 
Published: May 2003

AbstractThe synthesis of polyacrylonitrile‐block‐poly(ethylene oxide) (PAN‐b‐PEO) diblock copolymers is conducted by sequential initiation and Ce(IV) redox polymerization using amino‐alcohol as the parent compound. In the first step, amino‐alcohol potassium with a protected amine group initiates the polymerization of ethylene oxide (EO) to yield poly(ethylene oxide) (PEO) with an amine end group (PEO‐NH2), which is used to synthesize a PAN‐b‐PEO diblock copolymer with Ce(IV) that takes place in the redox initiation system. A PAN‐poly(ethylene glycol)‐PAN (PAN‐PEG‐PAN) triblock copolymer is prepared by the same redox system consisting of ceric ions and PEG in an aqueous medium. The structure of the copolymer is characterized in detail by GPC, IR, 1H‐NMR, DSC, and X‐ray diffraction. The propagation of the PAN chain is dependent on the molecular weight and concentration of the PEO prepolymer. The crystallization of the PAN and PEO block is discussed. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1753–1759, 2003
The scaling analysis of thermooxidative degradation of poly(arylatearylene sulfonoxide)
Authors: Kozlov G. V. , Batyrova H. M. , Zaikov G. E. 
Published: May 2003

AbstractIt is shown that scaling relationships adequately describe the process of oxygen consumption in the course of thermooxidative degradation of poly(arylatearylene sulfonoxide). The correspondence of the experimental curve amount of the consumed oxygen time to one or another scaling relationship allows the definition of the mechanism of thermooxidative degradation. So, for poly(arylatearylene sulfonoxide), the mode of autodeceleration corresponds to the attack by oxygen molecules of the polymeric macromolecules reactive centers, and the mode of autoacceleration corresponds to the reaction of low molecular radicals. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1760–1763, 2003
The structural treatment of a number of effective centers of polymeric chains in the process of the thermooxidative degradation
Authors: Kozlov G. V. , Batyrova H. M. , Zaikov G. E. 
Published: May 2003

AbstractIt is shown that the effective number of the polymeric macromolecule reactive centers depends on the macromolecular coil structure. The quantitative characteristic of the latter one can be received within the framework of the fractal analysis. The increase in macromolecular coil fractal dimension, meaning the rise of a degree of its compactness, results in lowering the effective number of the reactive (accessible to the molecules of oxidant) sites of a polymeric macromolecule. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1764–1767, 2003
Influence of recycling and contamination on structure and transport properties of polypropylene
Authors: Incarnato Loredana , Scarfato Paola , Acierno Domenico , Milana Maria Rosaria , Feliciani Roberta 
Published: May 2003

AbstractIn this work the effect of three processing cycles on the physical properties of polypropylene (PP) was studied and related to the changes in the structure (molecular weight, molecular weight distribution, morphology) occurring during recycling. In order to simulate both the use and the recycling process of PP in the laboratory, PP pellets were contaminated with three model substances and submitted to three cycles of processing by injection molding. The bars for testing were produced from virgin and recycled polymers. The amount of degradation occurring during the reprocessing was estimated by means of viscosity and gel permeation chromatography measurements. Differential scanning calorimetry and scanning electron microscopy analyses were performed to investigate the crystallization behavior and the morphology of virgin and recycled PP. In order to obtain information on the structural organization and mobility of the amorphous phase, a dynamic mechanical thermal analysis and measurements of the transport properties were carried out. The results obtained were attributed to the different structural organization of the bars in relation to the number of processing cycles and contamination. Part of the work was focused on the recyclability of PP for food packaging applications, considering the residual contamination and migrational behavior after repeated processing cycles. In particular, the relationships existing between reprocessing, the residual amounts of contaminants, and the migrational behavior were investigated. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1768–1778, 2003
Investigation of microstructure of the acrylonitrile‐styrene‐glycidyl methacrylate terpolymers by 1D and 2D NMR spectroscopy
Authors: A. S. Brar  , Pradhan D. R. 
Published: May 2003

AbstractAcrylonitrile‐styrene‐glycidyl methacrylate (N/S/G) terpolymers were prepared by bulk polymerization by using benzoyl peroxide as initiator and analyzed by NMR spectroscopy. The compositions of terpolymers were determined by quantitative 13C{1H}‐NMR spectra and compared with those calculated by Goldfinger's equation by using comonomer reactivity ratios: rNS = 0.04, rSN = 0.40; rNG = 0.22, rGN = 1.37; rSG = 0.44, rGS = 0.53. The 13C{1H}‐ and 1H‐NMR spectra were overlapping and complex. The spectral assignments were done with the help of distortionless enhancement by polarization transfer and two‐dimensional 13C‐1H heteronuclear single quantum correlation experiments. 2D total correlated spectroscopy was used to ascertain the various coupling between the protons. The methyl, methine, methylene, and oxymethylene carbon resonances showed compositional sensitivity. 2D nuclear Overhauser enhancement spectroscopy (NOESY) experiment was used to ascertain the spatial proton–proton couplings. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1779–1790, 2003
Determination of optical properties, dispersion, and structural parameters of poly(ethylene terephthalate) fibers using automatic variable wavelength interferometry technique
Authors: Sokkar T. Z. N. , El‐Farahary K. A. , El‐Bakary M. A. 
Published: May 2003

AbstractAutomatic variable wavelength interferometry (VAWI) is used in combination with a Pluta double refracting polarizing interference microscope for measuring the spectral dispersion parameters of the refractive indices of poly(ethylene terephthalate) (PET) highly oriented yarn fibers (1000 denier/250 filaments). The resulting data are utilized to calculate the spectral dispersion and structural parameters such as Cauchy's constants, the dispersion energy, the oscillation energy, the density, the mean polarizability of the monomer unit, the number of monomer units per unit volume, the dielectric constant, the electric susceptibility, the optical orientation function, and the electric polarizability constant. Microinterferograms are given for illustration. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1737–1742, 2003
Study of poly(ethylene terephthalate)/polypropylene microfibrillar composites. I. Morphological development in melt extrusion
Authors: Lin X. D. , Cheung W. L. 
Published: May 2003

AbstractPoly(ethylene terephthalate)/polypropylene (PET/PP) blends of different compositions were extruded through a 2‐mm capillary die using a corotating twin‐screw extruder. The extrudates were cryogenically fractured and examined using scanning electron microscopy. The viscosity ratio of the constituent polymers alone was found to be unsuitable for explaining the polymer blend morphology. At a PET concentration of 20%, the extrudate consists of three regions. The skin layer, which is about 10 μm thick, has a lower concentration of the dispersed PET phase than the overall concentration. The intermediate region, which is about 400 μm thick, has profuse PET fibers and some small PET particles. The central region, which is approximately 800 μm in diameter, mainly contains PET particles that are generally bigger. A low barrel temperature, low die temperature, and fast cooling rate helped to retain the fibers near the extrudate skin. Meanwhile, the variation of the barrel temperature, die temperature, and cooling media did not produce a significant affect on the PET particle size distribution in the central region of the extrudate. A high screw speed and a high postextrusion drawing speed were very effective in producing fibers in the extrudates through elongation of particles. At a PET concentration of 30%, coalescence of the PET phase was prevalent, leading to the formation of PET platelets near the extrudate skin and irregular PET networks in the central region of the extrudate. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 1743–1752, 2003