bluuebunny/crossref_metadata_2025_split huggingface dataset:
Specific immune response to occupational antigens in asymptomatic egg processing workers
Authors: Zanoni Giovanna , Martini Silvia , Zedde Antonio , Pagani Mauro , Guarnieri Annalisa , Tridente Giuseppe , Romeo Luciano 
Published: August 2002

AbstractBackgroundHen's egg proteins are known sensitizers and may cause occupational respiratory diseases in exposed workers. The study was conducted in order to ascertain the prevalence of sensitization to work‐related antigens in asymptomatic egg processing factory workers.MethodsClinical history, respiratory function, atopy and the presence of specific antibodies to environmental and occupational antigens were evaluated in 77 workers. A total of 116 unexposed and non‐professionally exposed controls were also studied. The antigen concentration of the factory environment was measured.ResultsSpecific IgE and precipitin positivity to egg components was more frequently present in workers than in the two control groups. The egg white protein concentration was higher in the egg breaking area.ConclusionsThe avian proteins inhaled induced immune responses to occupational antigens in asymptomatic, professionally exposed subjects. Measures to decrease environmental antigen concentrations and thorough clinical monitoring of sensitized workers are advocated. Am. J. Ind. Med. 41:490–497, 2002. © 2002 Wiley‐Liss, Inc.
Association between a polymorphism in the pseudoautosomal X‐linked gene SYBL1 and bipolar affective disorder
Authors: Müller Daniel J. , Schulze Thomas G. , Jahnes Esther , Cichon Sven , Krauss Harald , Kesper Kristina , Held Tilo , Maier Wolfgang , Propping Peter , Nöthen Markus M. , Rietschel Marcella 
Published: August 2002

AbstractIn the past decade, several chromosomal regions have been analyzed for linkage with bipolar affective disorder (BPAD). There have been conflicting results regarding the involvement of X‐chromosomal regions in harboring susceptibility genes for BPAD. Recently, a new candidate gene (SYBL1) for BPAD has been described on Xq28. SYBL1, which maps to the Xq pseudoautosomal region (PAR), encodes a member of the synaptobrevin family of proteins involved in synaptic vesicle docking, exocytosis, and membrane transport. A subsequent case‐control association study, including 110 US‐American patients with BPAD and 119 unrelated controls, investigated a potential etiological role of a novel polymorphism (G→C transversion) in a regulatory region of the SYBL1 gene. In this analysis, the C allele showed a statistical trend to be more frequent in males with BPAD than in respective controls (P = 0.06). This finding prompted us to verify whether a similar effect was also present in a larger German sample of 164 unrelated patients with BPAD (148 patients with BP I disorder, 16 patients with BP II disorder) and 267 controls. We observed a significantly increased frequency of genotypes homozygous for the C allele in females with BPAD in comparison with controls (P = 0.017). Thus, our data strengthen the role of the SYBL1 gene as a candidate gene for BPAD. © 2001 Wiley‐Liss, Inc.
Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance
Authors: Quercia Nada L. , Teebi Ahmad S. 
Published: August 2002

AbstractThe association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. © 2001 Wiley‐Liss, Inc.
Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation
Authors: Velinov Milen , Gu Hong , Yeboa Keame , Warburton Dorothy , Tubo Taknida , Dhuper Sarita , Lanter Stuart , Delprino Doreen , Kupchik Gabriel , Jenkins Edmund C. 
Published: August 2002

AbstractWe present a female infant with mild dysmorphic features and congenital heart defect: hypoplastic left heart with aortic atresia and hypoplastic aortic arch, ventricular septal defect, and a nonrestrictive atrial communication. Chromosome analysis showed an unbalanced translocation that contained additional material from 4q translocated onto 21q. This resulted in partial trisomy 4 and monosomy for the 21q telomeric region. The derivative chromosome was characterized using G‐banding, M‐FISH, and whole chromosome painting. The karyotype was described as 46,XX,der(21)t(4;21)(q25;q22.3).ish(wcp4+;wcp21+). Additional analyses with FISH probes specific for 21q 22.3, 21q22.2, 21q21.1, and 21q11.2 did not indicate any chromosome 21 duplication within the derivative chromosome 21. Monosomy for the telomeric portion of 21q was demonstrated using a tel 21q probe (Oncor). The patient underwent stage 1 Norwood procedure to manage her heart defect. Poor feeding and failure to thrive complicated the postsurgical period. The child subsequently underwent funduplication and feeding tube placement, and at 4.5 months of age presented with microcephaly and developmental delay. Hypoplastic left heart was previously reported with increased frequency in relatively common numeric chromosomal aberrations, such as monosomy X, trisomies 21, 18, and 13, and in various structural chromosomal defects. Our report presents new evidence for the co‐occurrence of hypoplastic left heart with a duplicated portion of chromosome 4 distal to 4q25. In addition, monosomy for the telomeric region of chromosome 21 may have implications in the phenotype. © 2001 Wiley‐Liss, Inc.
Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
Authors: Nishi Mirian Y. , Domenice Sorahia , Medeiros Maria Aparecida , Mendonca Berenice B. , Billerbeck Ana Elisa C. 
Published: August 2002

AbstractThe incidence of Y chromosome sequences in patients with Turner syndrome has been evaluated in several studies, and its frequency varied from 0% to 61%, depending on the molecular methodology used. The aim of our study was to screen for Y chromosome sequences in 122 patients with Turner syndrome without cytogenetic evidence of this chromosome. DNA of 100 normal women was also screened and it was used as a negative control. To identify cryptic Y mosaicism, eight regions of Y chromosome were amplified by PCR. In order to increase the sensitivity of Y sequence detection, a nested PCR of the SRY and TSPY genes was also performed. All patients had several stigmata of Turner syndrome and none of them presented with signs of virilization. The most frequent karyotype was 45,X (54.1%), followed by mosaicism involving structural aberration of the X chromosome. There were 12 patients who carried a marker or ring chromosome. First‐round PCR identified Y chromosome sequences in only four patients (3%), and all of them had a chromosome mosaicism with at least one cell lineage with a marker chromosome. After nested PCR, 25% of the patients and 14% of the normal women were positive for the presence of Y sequences. Contamination with extraneous genomic DNA was ruled out by microsatellite studies, but we cannot eliminate the possibility of contamination with PCR products, despite careful handling. We conclude that nested PCR overestimated the frequency of Y sequences in patients with Turner syndrome and should be avoided to prevent false positive results, which lead to unnecessary surgical treatment of these patients. © 2001 Wiley‐Liss, Inc.
Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors
Authors: Canto Patricia , Söderlund Daniela , Ramón Guillermo , Nishimura Elisa , Méndez Juan Pablo 
Published: August 2002

AbstractInactivating mutations of the luteinizing hormone receptor (LHR) gene in males induce Leydig cell agenesis or hypoplasia, while activating mutations cause testotoxicosis. Recently, it was demonstrated that a somatic heterozygous activating mutation of the LHR gene (Asp578His), limited to the tumor, was the cause of Leydig cell adenomas in three unrelated patients. We describe the molecular study of two unrelated boys with gonadotropin‐independent hypersecretion of testosterone due to Leydig cell adenomas. Genomic DNA was extracted from the tumor, the adjacent normal testis tissue, and blood leukocytes. Both individuals exhibited an heterozygous missense mutation, limited only to the tumor, consisting of a guanine (G) to cytosine (C) substitution at codon 578 (GAT to CAT), turning aspartic acid into histidine. The presence of the same mutation in different ethnic groups demonstrates the existence of a mutational hot spot in the LHR gene. Indeed, this mutation occurs at the conserved aspartic acid residue at amino acid 578, where a substitution by glycine is the most common mutation observed in testotoxicosis and where a substitution by tyrosine has been linked to a more severe clinical phenotype where diffuse Leydig cell hyperplasia is found. Our results confirm the fact that somatic activating mutations of gonadotropin receptors are involved in gonadal tumorigenesis. © 2002 Wiley‐Liss, Inc.
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: A distinct syndrome?
Authors: Parisi Melissa A. , Kletter Gad B. , Grady Richard , Mitchell Michael , Ramsdell Linda A. , Pagon Roberta A. 
Published: August 2002

AbstractWe report three boys, including two brothers, with micropenis and poor phallic growth in response to both exogenous human chorionic gonadotropin (HCG) and testosterone therapy in the newborn period. They exhibited low neonatal testosterone levels that failed to respond to HCG stimulation. These boys displayed a unique gonadotropin profile with reduced luteinizing hormone levels and elevated follicle‐stimulating hormone levels. They had small, cryptorchid testes with subsequent testicular regression and atrophy. Moreover, all three boys have developed microcephaly and mild learning delays. We review the hormonal profiles and phenotypes of known causes of micropenis, and compare them to the features of our three patients. Although individuals with similar features may have been described in past series of males with micropenis, the data presented previously were insufficient for classification; thus, we propose that our patients may represent a distinct, not previously recognized, syndrome with either X‐linked recessive inheritance or autosomal recessive inheritance with male sex limitation. © 2002 Wiley‐Liss, Inc.
HLA class I distribution in Japanese patients with schizophrenia
Authors: Matsumoto Shunji , Sasaki Tsukasa , Imamura Akira , Matsuo Katsuhisa , Kayashima Tomohiko , Hashida Aoi , Ono Shinji , Tsujita Takahiro , Matsumoto Sumitaka , Nakane Yishibumi , Tokunaga Katsushi , Okazaki Yuji 
Published: August 2002

AbstractSeveral Caucasian studies and one Japanese study have observed associations between human leukocyte antigen (HLA) class I specificities, including A24 (9) and A26 (10) and schizophrenia. Most of those studies were conducted in 1970s and early 1980s, when the typing technique of HLA was not adequately reliable. Also, an operational diagnostic system was not employed in many of the studies. The present study investigated frequencies of HLA‐A specificities in schizophrenia patients (ICD‐10 and DSM‐III‐R, n = 98) and sex‐matched healthy controls (n = 392) from population in the southwestern part of Japan. HLA‐B and ‐C specificities were studied in addition. Frequencies of subjects possessing A24 and A26 were not different between the patients and controls (54% and 24% in the patients and 62% and 24% in the controls, respectively). No significant difference was found in frequencies of other class I (A, B, and C) specificities between the patients and the controls. Thus, the present study provided no evidence for an association between the HLA class I specificities, including A24, A26, and others, and schizophrenia in the Japanese population. © 2001 Wiley‐Liss, Inc.
Testing the reliability of noninvasive genetic sampling by comparing analyses of blood and fecal samples in Barbary macaques (Macaca sylvanus)
Authors: Lathuillière M. , Ménard N. , Gautier‐Hion A. , Crouau‐Roy B. 
Published: August 2002

AbstractGenetic studies of wild animal populations are often hindered by difficulties in obtaining blood samples. Recent advances in molecular biology have allowed the use of noninvasive samples as sources of DNA (e.g., hair or feces), but such samples may provide low‐quality DNA and prevent the determination of true genotypes in subsequent DNA analysis. We present a preliminary study aimed at assessing the reliability of using fecal samples for genotyping in Barbary macaques (Macaca sylvanus). The test was performed on samples of blood and feces from 11 captive animals, using three dinucleotide microsatellites. The CTAB DNA extraction method was found to be the most relevant for Barbary macaque feces, yielding successful amplification at all loci for 70% of PCRs. All the fecal samples tested gave correct genotypes at least once for each locus when referenced against blood‐derived genotypes. An average of 18.3% of PCRs displayed spurious genotypes (false homozygous or false allele). The minimum theoretical probability required to obtain a 100% accurate genotype is 0.74, based on the criterion that a correct genotype is assessed only if it was observed at least twice. The observed probability of obtaining a correct genotype from three PCRs, based on our genotyping results, was greater (0.81 on average) than the minimum threshold. In conclusion, our comparison of blood and fecal samples showed that fecal sampling is a reliable tool for the further study of wild Barbary macaque populations. Am. J. Primatol. 55:151–158, 2001. © 2001 Wiley‐Liss, Inc.
Comparative cognitive science and the Japanese influence in primatology
Authors: Beran Michael J. , Rumbaugh Duane M. 
Published: August 2002

AbstractReview of Primate Origins of Human Cognition and Behavior by Tetsuro Matsuzawa. Tokyo, Springer‐Verlag, 2001, xxi + 587 pp, 248 fig., 4 in color, $119.00.
An accessible guide to the primates
Authors: Reeder Deeann M. 
Published: August 2002

AbstractReview of Walker’s Primates of the World by Ronald M. Nowak. Introduction by Russell A. Mittermeier, Anthony B. Rylands, and William Konstant. Baltimore, Johns Hopkins University Press, 1999, 232 pp, 180 fig., 13 tab., $19.95.
Chromosome painting reveals that galagos have highly derived karyotypes†
Authors: Stanyon Roscoe , Koehler U. , Consigliere S. 
Published: August 2002

AbstractThe differences in chromosome number between Otolemur crassicaudatus (2n = 62) and Galago moholi (2n = 38) are dramatic. However, the total number of signals given by hybridizing human chromosome paints to galago metaphases is similar: 42 in O. crassicaudatus and 38 G. moholi. Many human chromosome homologs are found fragmented in each species, and numerous translocations have resulted in chromosomal syntenies or hybridization associations which differ from those found in humans. Only 7 human autosomes showed conserved synteny in O. crassicaudatus, and 9 in G. moholi. Both galago species have numerous associations or syntenies not found in humans: O. crassicaudatus has 11, and G. moholi has 21. The phylogenetic line leading to the last common ancestor of the two galago species accumulated 6 synapomorphic fissions and 5 synapomorphic fusions. Since the divergence of the two galago species, 10 Robertsonian translocations have further transformed the G. moholi karyotype, and 2 fissions have been incorporated into the O. crassicaudatus karyotype. Comparison with other primates, tree shrews, and other mammals shows that both galagos have karyotypes which are a mixture of derived and conserved chromosomes, and neither has a karyotype close to that of the proposed ancestor of all primates. Am J Phys Anthropol 117:319–326, 2002. Published 2002 Wiley‐Liss, Inc.
Double‐energy X‐ray absorptiometry in the diagnosis of osteopenia in ancient skeletal remains
Authors: González‐Reimers E. , Velasco‐Vázquez J. , Arnay‐De‐La‐Rosa M. , Santolaria‐Fernández F. , Gómez‐Rodríguez M.A. , Machado‐Calvo M. 
Published: August 2002

AbstractBone mineral density (BMD) assessed by double‐energy X‐ray absorptiometry (DEXA) accurately estimates the bone mass in living individuals, and is thus the method usually employed in the diagnosis and follow‐up of osteopenia. It is preferred, in clinical settings, to the more invasive and destructive histomorphometrical assessment of trabecular bone mass in undecalcified bone samples. This study was performed in order to examine the value of DEXA‐assessed BMD at the proximal end of the right tibia, either alone or in combination with the cortico‐medullary index at the midshaft point of the right tibia (CMI), in the diagnosis of osteopenia in a prehistoric sample composed of 95 pre‐Hispanic individuals from Gran Canaria. Age at death could be estimated in 34 cases. Diagnosis of osteopenia was performed by histomorphometrical assessment of trabecular bone mass (TBM) in an undecalcified bone section of a small portion of the proximal epiphysis of the right tibia. A high prevalence of osteopenia was found among the population of Gran Canaria. Both TBM and BMD were significantly lower in the older individuals than in younger ones, and BMD was also significantly lower in female individuals. BMD was moderately correlated with TBM (r = +0.51); the correlation was higher if CMI was included (multiple r = +0.615). BMD values lower than 0.7 g/cm2showed a high specificity (>93%) at excluding normal TBM values. These methods were prospectively applied in a further sample of 21 right tibiae from Gran Canaria, Tenerife, and El Hierro. The results were similar to those obtained in the larger sample. Thus, DEXA‐assessed BMD combined with CMI (noninvasive procedures) may be useful in detecting osteopenia in ancient populations. Am J Phys Anthropol 118:134–145, 2002. © 2002 Wiley‐Liss, Inc.
Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype
Authors: Selcen Duygu , Krueger Bruce R. , Engel Andrew G. 
Published: August 2002

AbstractTwo siblings (patients 1 and 2) had adult‐onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Electromyography studies indicated myopathy and findings consistent with neuropathy in both. In the deltoid muscle of patient 1 and the anterior tibial muscle of patient 2, myriad type 1 fibers harbored large, irregularly polygonal, and mostly central hyaline masses, small vacuoles, and nemaline rods flanking the hyaline masses or congregated under the sarcolemma. The hyaline masses are intensely congophilic; react strongly for desmin, αB‐crystallin, α1‐antichymotrypsin, and ubiquitin and variably for gelsolin and dystrophin; and are devoid of α‐actinin, nebulin, titin, and slow myosin. The presence of ubiquitin, gelsolin, and fragmented filaments, and the absence of nebulin, titin, α‐actinin, and slow myosin in the hyaline masses, signal nonlysosomal protein degradation. Ultrastructurally, the hyaline masses are composed of intermediate‐density amorphous material intermingled with fragmented filaments and irregularly branching, pleomorphic, highly electron‐dense material, resembling the hyaline structures of myofibrillar myopathy. We conclude that the pathological process in this syndrome is one that induces destruction of myofibrillar components, resulting in aggregation of the degraded residues in hyaline masses, and causes replication of Z disks, resulting in formation of nemaline rods.
Preliminary evidence for in vitro methylation of tributyltin in a marine sediment
Authors: Vella Alfred J. , Adami Jean Pierre Tabone 
Published: August 2002

AbstractRecent reports from our laboratory on the occurrence of methylbutyltins in marine sediments and seawater suggest that these compounds are formed in the environment by the methylation of both tributyltin (TBT) and that­of its degradation products, i.e. dibutyltin and monobutyltin, to give MenBu(4−n)Sn for which n = 1, 2 and 3 respectively. We investigated the possibility of inducing methylation of TBT in seawater–sediment mixtures in experiments carried out in vitro using environmental materials collected from a yacht marina in Msida, Malta. Three water–sediment mixtures, which were shown to contain TBT, dibutyltin and monobutyltin but no other organotins, were spiked with tributyltin chloride (90 mg in 100 ml sea‐water/100 ml sediment); to one mixture was added sodium acetate and to another methanol, to act as possible additional carbon sources, and all mixtures were allowed to stand at 25 °C in stoppered clear‐glass bottles in diffused light for a maximum of 315 days. Speciation and quantification of organotins was performed using aqueous phase boroethylation with simultaneous solvent extraction followed by gas chromatography with flame photometric detection. The atmosphere inside the bottles quickly became reducing with abundant presence of H2S, and after an induction period of about 112 days, and only in the reaction mixture containing methanol, methyltributyltin (MeBu3Sn) was observed in both sediment (maximum concentration 0.87 µgSn g−1) and overlying water (maximum concentration 6.0 µgSn l−1). The minimum conversion yield of TBT into MeBu3Sn was estimated to be 0.3%. MeBu3Sn has a significantly lower affinity for sediment than TBT and, therefore, is more mobile in the marine environment, possibly also migrating into the atmosphere to generate a hitherto unsuspected flux of organotin into that phase. Copyright © 2001 John Wiley & Sons, Ltd.
Synthesis and properties of novel σ–π alternating polymers with triphenylamine and organosilicon units
Authors: Sakamaki Koichi , Ohshita Joji , Kunai Atsutaka , Nakao Hidenobu , Adachi Akira , Okita Koichi 
Published: August 2002

AbstractWe have synthesized novel σ–π conjugated polymers with N,N‐bis(p‐ethynylphenyl)‐N‐(p‐tolyl)amine as the π‐unit. The electroluminescent devices, with a double‐layer system composed of Alq and the present polymers as the emitting‐electron‐transporting and hole‐transporting layers respectively, emit green electroluminescence with a maximum intensity of 760 cd m−2. Copyright © 2001 John Wiley & Sons, Ltd.
New steroid‐group‐containing borazine compounds and their 13C NMR spectra
Authors: Yamashita Hiroshi , Koda Naoko , Murakami Teiichi , Uchimaru Yuko 
Published: August 2002

AbstractNew borazine compounds containing steroid units (cholesteryl and stigmasteryl) were prepared by the reactions of B,B′,B″‐trichloro‐N,N′,N″‐trimethylborazine with the 3‐chloro derivatives of the corresponding steroids under Grignard conditions. The products were characterized by 13C–1H correlation NMR measurements to give fully assigned 13C NMR data. Copyright © 2001 John Wiley & Sons, Ltd.
Amino‐acid hydroselenites: synthesis and cytotoxicity
Authors: Lukevics E. , Arsenyan P. , Rubina K. , Shestakova I. , Domracheva I. , Nesterova A. , Popelis J. , Pudova O. 
Published: August 2002

AbstractAmino acids, di‐ and tri‐peptides readily react with selenic acid (H2SeO3, formed during solution of selenium(IV) oxide in water) to give the corresponding ammonium hydroselenites. Most selenites synthesized are very active (0.4–11 µg ml−1) against mouse hepatoma MG‐22A and readily increase NO concentration in the cultural medium on the HT‐1080 line (up to TG100 = 1500%). The amino‐acid hydroselenites studied influenced the cell phenotype. Copyright © 2002 John Wiley & Sons, Ltd.