bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial dysautonomia: Detection of the IKBKAP IVS20+6T → C and R696P mutations and frequencies among Ashkenazi Jews
Authors: Dong Jianli , Edelmann Lisa , Bajwa Asghar M. , Kornreich Ruth , Desnick Robert J. 
Published: October 2002

AbstractFamilial dysautonomia (FD) is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish (AJ) population. Mutations in the IκB kinase complex‐associated protein (IKBKAP) gene cause FD. Two IKBKAP mutations, IVS20+6T → C and R696P, have been identified in FD patients of AJ descent. The splice site mutation IVS20+6T → C is responsible for > 99.5% of known AJ patients with FD, and haplotype analyses were consistent with a common founder. In contrast, the R696P mutation has been identified in only a few AJ patients. To facilitate carrier detection, a single PCR and allele‐specific oligonucleotide (ASO) hybridization assay was developed to facilitate the detection of both the IVS20+6T → C and R696P mutations. Screening of 2,518 anonymous AJ individuals from the New York metropolitan area revealed a carrier frequency for IVS20+6T → C of 1 in 32 (3.2%; 95% CI, 2.5–3.9%), similar to the previously estimated carrier frequency (3.3%) based on disease incidence. No carrier was identified for the R696P lesion, indicating that the mutation was rare in this population (< 1 in 2,500). This sensitive and specific assay should facilitate carrier screening for FD mutations in the AJ community, as well as postnatal diagnostic testing. © 2002 Wiley‐Liss, Inc.
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects
Authors: Lane Andrew H. , Aijaz Naghma , Galvin‐Parton Patricia , Lanman Joseph , Mangano Robert , Wilson Thomas A. 
Published: October 2002

AbstractWe describe a 12‐year‐old boy with mosaic variegated aneuploidy (MVA), subnormal response to growth hormone (GH) stimulation testing, and short stature. In addition to features more commonly described in MVA such as microcephaly, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, ventricular septal defect, and subaortic stenosis. Chromosomal analysis revealed hyperdiploid chromosome numbers ranging from 47 to 70; modal number 50, in 24% of the metaphases. This case demonstrates that although the phenotype of MVA almost always includes growth failure, microcephaly, and mental retardation, additional features may vary greatly across individuals. His clinical features and course suggest that in addition to GH deficiency, he may have an intrinsic inability of the growth plate to respond to growth hormone. © 2002 Wiley‐Liss, Inc.
Genetic heterogeneity of syndromic X‐linked recessive microphthalmia‐anophthalmia: Is Lenz microphthalmia a single disorder?
Authors: Ng David , Hadley Donald W. , Tifft Cynthia J. , Biesecker Leslie G. 
Published: October 2002

AbstractNonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X‐linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X‐linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27–q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4–Xq11.1. We describe a five‐generation African‐American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X‐linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27–q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X‐chromosome scan revealed linkage to a 10‐cM region between markers DXS228 and DXS992 in Xp11.4–p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X‐linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders. © 2002 Wiley‐Liss, Inc.
Frameshift mutation in the cartilage‐derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe‐type chondrodysplasia
Authors: Faiyaz‐Ul‐Haque Muhammad , Ahmad Wasim , Wahab Abdul , Haque Sayedul , Azim Anser C. , Zaidi Syed H.E. , Teebi Ahmad S. , Ahmad Mahmud , Cohn Daniel H. , Siddique Teepu , Tsui Lap‐Chee 
Published: October 2002

AbstractGrebe‐type chondrodysplasia exhibits a severe form of limb shortening and appendicular bone dysmorphogenesis. Here we report a family with seven males and six females who inherited the disorder in an autosomal recessive fashion. While the carrier parents did not exhibit any apparent skeletal abnormalities, all affected patients had a similar phenotype with unaffected axial and craniofacial bones. Since mutations in the cartilage‐derived morphogenetic protein 1 (CDMP1) gene have been reported in similar acromesomelic chondrodysplasias, we examined genomic DNA from affected and normal subjects for possible mutations in CDMP1. In affected subjects, an insertion of a C at nucleotide 297 of the coding sequence was discovered. This insertion produced a shift in the reading frame at amino acid residue 99, causing premature termination of the polypeptide six amino acids downstream. DNA samples from 41 control subjects did not show this mutation. The truncated CDMP1 protein in these subjects is predicted to cause a total loss of its signaling function. The present report confirms that CDMP1 plays an important role in the regulation of axial bone growth during development and suggests that its absence does not impair other developmental processes.© 2002 Wiley‐Liss, Inc.
Genome‐wide linkage analysis for celiac disease in North American families
Authors: Neuhausen Susan L. , Feolo Mike , Camp Nicola J. , Farnham James , Book Linda , Zone John J. 
Published: October 2002

AbstractCeliac disease (CD) is an autoimmune disease caused by sensitivity to the dietary protein gluten. It has a prevalence of 1 in 250 in the United States. Multiple‐case families are common with a risk to siblings from 10–12%. Previous linkage studies have found no significant evidence for linkage other than to HLA. In this study, we performed a genome‐wide search on 62 families with at least two cases of CD to identify non‐HLA loci for CD. Two‐point and multipoint parametric and nonparametric analyses were performed on the entire set of families and on sets stratified by the HLA genotype. Accounting for multiple testing, we found genome‐wide intermediate linkage evidence at 18q (heterogeneity LOD (HLOD) = 3.6) and at 3p (HLOD = 3.2) and suggestive evidence at 5p (HLOD = 2.7). Good consensus between two‐point and multipoint evidence was not found, and after genotyping with new markers in these regions, our results were inconclusive. The 18q region had intermediate two‐point evidence, but weak multipoint evidence. At 3p and 5p, the addition of follow‐up markers added flanking support, yet multipoint evidence was still lacking. Our results indicate that multipoint analyses may be hindered by the complexity of CD. Multipoint analyses are not robust to model misspecification, and further development of models is needed. Additional study of these and other families is necessary to validate or rule out the regions implicated in this study. © 2002 Wiley‐Liss, Inc.
Epidemiology and treatment of mitochondrial disorders
Authors: Chinnery Patrick F. , Turnbull Douglass M. 
Published: October 2002

AbstractThe last ten years have seen a huge increase in the number of different genetic defects found in patients with mitochondrial disorders, but the true impact of mitochondrial disease is only just becoming apparent. Mitochondrial diseases are far more common than was anticipated. Although there have also been major advances in our understanding of mitochondrial pathology, the clinical management of patients with mitochondrial disease is largely supportive. In this article, we focus on primary disorders of the mitochondrial respiratory chain and mtDNA defects. We review the available epidemiological data, outline current strategies for the management of mitochondrial disease, and highlight new therapeutic approaches that may prove useful in the future. © 2001 Wiley‐Liss, Inc.
Epilepsy and genetic malformations of the cerebral cortex
Authors: Guerrini Renzo , Carrozzo Romeo 
Published: October 2002

AbstractMalformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo‐clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene were reported in 13 patients. X‐linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in females and prenatal lethality in males. About 88% of patients have partial epilepsy. Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients. The most frequent forms of lissencephaly (agyria‐pachygyria) are caused by mutations of LIS1. XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females. The thickness of the heterotopic band and the degree of pachygyria correlate with the likelihood of developing Lennox‐Gastaut syndrome. Mutations of the coding region of XLIS were found in all reported pedigrees and in 38–91% of sporadic female patients with SBH. With few exceptions, children with LIS1 mutations have isolated lissencephaly, with severe developmental delay and infantile spasms. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe developmental delay, seizures, and hypotonia has been associated with mutations of the reelin gene. Fukuyama congenital muscular dystrophy is due to mutations of the fukutin gene and is accompanied by polymicrogyria. Febrile seizures and epilepsy with generalized tonic‐convulsions appear in about 50% of children but are usually not severe. Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. TSC1 mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X‐linked dominant, X‐linked recessive inheritance, and association with 22q11.2 deletions. About 65% of patients have severe epilepsy, often Lennox‐Gastaut syndrome. © 2001 Wiley‐Liss, Inc.
Longitudinal analysis of length growth in the chimpanzee (Pan troglodytes)
Authors: Hamada Yuzuru , Udono Toshifumi 
Published: October 2002

AbstractThe adolescent growth spurt in linear dimension in humans is considered to be unique among mammals, but few comparative studies have been done, even on chimpanzees. Growth of the summed length of crown to rump, thigh, and leg was studied longitudinally in 12 chimpanzees. We took body weight growth and reproductive maturation into consideration. Reproductive maturation was monitored by the swelling of sexual skin and menarche in females, and by testicular development in males. We applied two relationships found in humans between body length growth and the environment to the chimpanzees. The first relationship was the robustness of the growth spurt, meaning that the spurt is absent only in individuals under the most severe environmental pressure. Subjects maturing in a favorable or even mediocre environment are anticipated to show the growth spurt. The second relationship was catch‐up growth, where, when the environment is ameliorated, growth may be accelerated to attain the target size. Catch‐up growth at the end of the juvenile period may mimic the adolescent growth spurt. Results showed that subjects living under favorable conditions did not exhibit a growth spurt, and that it was only the subjects who had delayed growth in the juvenile period that showed a spurt in adolescence, the period when reproductive maturation occurred. Although we have concluded that chimpanzees do not have an adolescent growth spurt, except in cases of catch‐up growth, this does not mean that they have a different growth pattern from that of humans. The absence of a growth spurt may be associated with adaptations to chimpanzee patrilineal society, where adolescent males are incorporated into the adult hierarchy at a low rank. Am J Phys Anthropol 118:268–284, 2002. © 2002 Wiley‐Liss, Inc.
Cross‐site differences in foraging behavior of white‐faced capuchins (Cebus capucinus)
Authors: Panger Melissa A. , Perry Susan , Rose Lisa , Gros‐Louis Julie , Vogel Erin , Mackinnon Katherine C. , Baker Mary 
Published: October 2002

AbstractResearchers have identified a variety of cross‐site differences in the foraging behavior of free‐ranging great apes, most notably among chimpanzees (Pan troglodytes) and more recently orangutans (Pongo pygmaeus), that are not due to obvious genetic or ecological differences. These differences are often referred to as “traditions.” What is not known is whether this high level of interpopulation variation in behavior is limited to hominoids. In this study, we use long‐term data from three Costa Rican field sites that are geographically close and similar ecologically to identify potential foraging traditions in white‐faced capuchins (Cebus capucinus). Foraging traditions are predicted in Cebus because of many behavioral and morphological convergences between this genus and the great apes. The processing techniques used for the same food species were compared across sites, and all differences found were classified as present, habitual, or customary. Proximity data were also analyzed to determine if social learning mechanisms could explain variation in foraging behavior. Of the 61 foods compared, we found that 20 of them are processed differently by capuchins across sites. The differences involve pound, rub, tap, “fulcrum,” “leaf‐wrap,” and “army ant following.” For most of the differences with enough data to analyze, the average proximity score of the “matched” dyads (two individuals within a group who shared a “different” processing technique) was statistically higher than the average proximity score of the remaining “unmatched” dyads. Am J Phys Anthropol 119:52–66, 2002. © 2002 Wiley‐Liss, Inc.
X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
Authors: Bizzi Alberto , Bugiani Marianna , Salomons Gajja S. , Hunneman Donald H. , Moroni Isabella , Estienne Margherita , Danesi Ugo , Jakobs Cornelis , Uziel Graziella 
Published: October 2002

AbstractAmong creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221‐1223delTTC) was identified.
Preparation of core–shell type nanoparticles of diblock copolymers of poly(L‐lactide)/poly(ethylene glycol) and their characterization in vitro
Authors: Yu Jeong‐Jun , Jeong Young‐Il , Shim Yong‐Ho , Lim Gyun‐Taek 
Published: October 2002

AbstractCore–shell type nanoparticles of poly(L‐lactide)/poly(ethylene glycol) (LE) diblock copolymer were prepared by a dialysis technique. Their size was confirmed as 40–70 nm using photon correlation spectroscopy. The 1H‐NMR analysis confirmed the formation of core–shell type nanoparticles and drug loading. The particle size, drug loading, and drug release rate of the LE nanoparticles were slightly changed by the initial solvents that were used. The drug release behavior of LE core–shell type nanoparticles showed an initial burst during the first 12 h and then a sustained release until 100 h. The degradation behavior of LE block copolymer nanoparticles was divided into three phases: the initial rapid degradation phase, the stationary phase, and the rapid degradation phase until complete degradation. It was suggested that lidocaine release kinetics were predominantly governed by the diffusion mechanism in the initial burst phase and after that by both of the diffusion and degradation mechanisms. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 2625–2634, 2002
Hot‐wire parallel technique: A new method for simultaneous determination of thermal properties of polymers
Authors: Santos Wilson Nunes Dos , Gregorio Rinaldo 
Published: October 2002

AbstractThe hot‐wire parallel technique standardized for determining the thermal conductivity of ceramic materials was employed in the determination of the thermal properties of polymers. For these materials, additional care must be taken considering the low melting point of polymers, when compared with that for ceramic materials. Samples can be prepared either in the shape of bricks or in the shape of half‐cylinders. The thermal conductivity and the specific heat were simultaneously determined from the same experimental thermal transient, and the thermal diffusivity is derived from these properties. Five different polymers with different structures at room temperature were selected, and measurements were carried out from room temperature to approximately the maximum service operating temperature. A nonlinear least‐squares fitting method was employed in the calculations, so that all the experimental points obtained are considered in the thermal properties' calculations. The apparatus used in this work is fully automatic. The reproducibility is very good with respect to the thermal conductivity, even with a defective experimental arrangement with respect to the theoretical model. However, deviations from the theoretical model have a severe influence on the specific heat values and, consequently, on the thermal diffusivity. Experimental results were compared with those available in the literature, showing the applicability of this technique for the determination of thermal properties of polymers. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 1779–1786, 2002
Thermal crosslinking of collagen immobilized on poly(acrylic acid) grafted poly(ethylene terephthalate) films
Authors: Gupta Bhuvanesh , Hilborn Jöns , Plummer Christopher , Bisson Isabelle , Frey Peter 
Published: October 2002

AbstractGraft polymerization of acrylic acid onto plasma‐treated poly(ethylene terephthalate) (PET) films was used to prepare surfaces suitable for collagen immobilization by dip‐coating. Such surfaces could be used as matrices for smooth muscle cell cultures in tissue engineering. Contact angle measurements showed that plasma‐treated and grafted PET films undergo considerable surface reorganization during storage under ambient conditions. However, after collagen immobilization the contact angle remained relatively stable. The amount of collagen initially attached to the film surface increased with increasing poly(acrylic acid) graft density, but subsequent washing in water led to significant collagen loss. This loss could nevertheless be substantially reduced by thermal crosslinking of the collagen in the range 110–130 °C. Atomic force microscopy (AFM) observations suggested that the washed crosslinked collagen has a very similar structure to that of the un‐crosslinked collagen. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 1874–1880, 2002
Detection and determination of CrVI in solution using polyaniline modified quartz crystal electrode
Authors: Mirmohseni Abdolreza , Oladegaragoze Ali 
Published: October 2002

AbstractConducting polymers such as polyaniline and polypyrrole exhibit novel sensoric properties and are able to interact chemically or electrochemically with the species of interest for detection. In the current investigation, construction of a sensor based on an electrochemical reaction between CrVI and a thin layer of polyaniline, coated at the surface of quartz crystal electrode, is reported. Polyaniline was synthesized, electrochemically, at the surface of quartz crystal electrode. It was then reduced at −0.1 V versus Ag/AgCl. The modified electrode was exposed to various concentrations of CrVI solutions ranging from 10−7 to 10−1M. Mass changes of the polymer‐modified electrode due to the reaction between CrVI and polyaniline was found to be linear, corresponding to the concentration of CrVI. The experiments in both acidic and nonacidic conditions were performed. In both conditions, linear double‐loga
thmic calibration curves of mass change of the polymer film versus CrVI concentration were obtained. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 2772–2780, 2002
The effect of morphology of ternary‐phase polypropylene/glass bead/ethylene‐propylene rubber composites on the toughness and brittle‐ductile transition
Authors: Dubnikova I. L. , Berezina S. M. , Antonov A. V. 
Published: October 2002

AbstractCorrelation between the morphology and the impact toughness was studied for ternary‐phase polypropylene (PP)/glass bead (GB)/ethylene‐propylene rubber (EPR) composites containing 5–40 vol % of rigid filler at a fixed volume fraction ratio EPR/GB equal to 0.33. The three following types of phase morphology were obtained: (1) separate dispersion of phases and weak GB–PP adhesion; (2) separate dispersion of phases and high GB–PP adhesion; and (3) encapsulation of GB particles by elastomer shell. Maleated PP or EPR was used for the preparation of second and third types of composites, respectively. Binary composites with either rigid or rubbery phases were prepared as model systems. Young's modulus values of composites containing GB encapsulated by a soft interlayer stay close to neat PP modulus and are located in the bounds corresponding to ternary systems with phase‐separate distribution and rubber‐modified PP. Notched impact strength was measured by Izod and three‐point bending tests. Systems with the phase‐separate distribution both with weak and with high adhesion exhibit quasi‐brittle fracture. The encapsulation of GB particles by elastomer results in significant improvement of the toughness. An increase in core‐shell inclusion fraction leads to intense matrix yielding within a specimen bulk and brittle–ductile transition similar to the rubber‐toughened PP. A criterion of brittle–ductile transition was proposed on the basis of load‐time curve analysis, which is an accumulation of critical plastic deformation on a crack initiation stage. The stress of start of local failure microprocesses at the inclusion–matrix boundary was found to play the dominating role in energy‐dissipating mechanisms. The lowering of the stress at which a local matrix yielding starts at elastomer shell–PP interface compared to the stress of GB debonding is a main source of intensive energy adsorption at the initiation stage in the system with encapsulated GB. The optimal stiffness–toughness balance can be obtained by coating the rigid particles with an elastomer shell. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 1911–1928, 2002