bluuebunny/crossref_metadata_2025_split huggingface dataset:
EBV‐associated lymphoma and chronic inflammatory demyelinating polyneuropathy in an adult without overt immunodeficiency
Authors: Kasamon Yvette L. , Nguyen Thanh N. , Chan Jennifer A. , Nascimento Alessandra F. 
Published: August 2002

AbstractEpstein‐Barr virus (EBV)‐associated lymphoproliferative disease occurs almost exclusively in immunocompromised states. This type of malignancy nevertheless developed in a woman without overt immunocompromise. She presented with rapidly progressive lower extremity weakness that was consistent with a chronic inflammatory demyelinating polyneuropathy (CIDP). CIDP has been documented in Hodgkin's disease but rarely in non‐Hodgkin's disease. Diagnosis was confirmed by lymph node and sural nerve biopsies and by nerve conduction studies. Prednisone, rituximab, cyclophosphamide, doxorubicin, and etoposide were administered with regression of lymphadenopathy and improvement in neurologic symptoms. EBV‐associated lymphoproliferative disease can thus develop in the absence of overt immunodeficiency and may trigger a demyelinating polyneuropathy. Am. J. Hematol. 69:289–293, 2002. © 2002 Wiley‐Liss, Inc.
Clinical and pathologic findings in 52 consecutively autopsied cases with multiple myeloma
Authors: Oshima Kumi , Kanda Yoshinobu , Nannya Yasuhito , Kaneko Makoto , Hamaki Tamae , Suguro Miyuki , Yamamoto Rie , Chizuka Aki , Matsuyama Tomohiro , Takezako Naoki , Miwa Akiyoshi , Togawa Atsushi , Niino Hihumi , Nasu Michiyo , Saito Kiyoshi , Morita Toyohiko 
Published: August 2002

AbstractWe studied clinical features and pathologic findings in 52 consecutively autopsied patients with multiple myeloma in our center between 1979 and 1998. Distant extraosseous involvement was found in 33 patients (63.5%). Thirty‐one patients (59.6%) were proven to have infection at autopsy, among which pneumonia was most common site of infection. Amyloidosis was shown in 8 patients. Second malignancies were observed in 4 cases. The three major causes of death were hemorrhage, infection, and renal failure, which accounted for death in approximately 70% of the patients. Advances in the anticancer and antimicrobial chemotherapies might have decreased deaths due to myeloma itself or infection. Am. J. Hematol. 67:1–5, 2001. © 2001 Wiley‐Liss, Inc.
Ultrasound‐guided fine needle biopsy of the spleen: High clinical efficacy and low risk in a multicenter Italian study
Authors: Civardi Giuseppe , Vallisa Daniele , Bertè Raffaella , Giorgio Antonio , Filice Carlo , Caremani Marcello , Caturelli Eugenio , Pompili Maurizio , De Sio Ilario , Buscarini Elisabetta , Cavanna Luigi 
Published: August 2002

AbstractThe aim of this study was to evaluate the clinical efficacy and safety of the ultrasound‐guided fine needle biopsy (UG‐FNB) of the spleen in a large population of patients. We collected retrospectively the findings concerning the application of UG‐FNB of the spleen from eight Italian clinical centers that utilized this technique for at least ten years. A data schedule was sent to all centers to collect information about techniques, results, and complications of UG‐FNB of the spleen. We analyzed 398 biopsy procedures both on focal lesions (257 cases) and on splenic parenchyma (141 cases). The overall accuracy was 90.9% for the series as a whole, 84.9% for cytological sampling, 88.3% for microhistological sampling, and 90.3% for both cytological and histological sampling (double biopsy). Tissue core biopsy yielded better overall accuracy in patients with suspected splenic involvement by lymphoma (90.9% vs. 68.5% for cytology). The complication rate was low (no death cases, less than 1% for major complications, and 5.2% for all complications). No predictive factors were able to detect high‐risk situations. The operator's skill (higher number of performed procedures) was significantly related to better overall accuracy. Conversely, the complication rate was not affected. UG‐FNB of the spleen is a very effective diagnostic procedure with low risk for the patient. Aspiration cytology and core needle biopsy showed similar diagnostic yields, except for the diagnosis of splenic lymphoma, in which core needle biopsy obtained better results. Am. J. Hematol. 67:93–99, 2001. © 2001 Wiley‐Liss, Inc.
Does polygyny reduce fertility?
Authors: Josephson Steven C. 
Published: August 2002

AbstractPolygyny can increase, decrease, or have no effect on fertility. Understanding how this can occur requires consideration of both the proximate determinants of fertility and the ultimate effects of polygyny as a female reproductive strategy. Several factors reduced the fertility of polygynous women in 19th century Utah, including marrying at an older age, marrying older men, and conflict between co‐wives. Sterility did not explain the reduced number of children in polygynous women, nor is there evidence of a “dilution effect” from sharing a husband. If women could anticipate a reduction in their own fertility, why would they still choose polygyny? Evidence suggests that they chose it because the children of polygynous men had increased fertility, high enough to offset the low fertility of polygynous women themselves. Am. J. Hum. Biol. 14:222–232, 2002. © 2002 Wiley‐Liss, Inc.
Forearm EMG response activity during motor performance in individuals prone to increased stress reactivity
Authors: Van Galen Gerard P. , Müller Martijn L.T.M. , Meulenbroek Ruud G.J. , Van Gemmert Arend W.A. 
Published: August 2002

AbstractBackgroundWork‐related Upper Extremity Disorders (WRUEDs) are conceived of as a multifactorial syndrome caused by the effects of excessive repetitive motions, sustained static postures, and muscular stiffness. Our aim is to test an etiological model derived from a theory by Van Galen and Van Huygevoort [2000] Biol Psychol 51:151–171. The theory holds that physical, emotional, and psychosocial stressors enhance muscular stiffness as a compensatory filtering of impoverished signal‐to‐noise ratios in the motor system. High individual levels of arousal, as measured by Spielberger et al. [1970], State and Trait Anxiety Test would further enhance a subject's predisposition to react with stiffness responses in conditions of stress.MethodsTen participants with a high‐ and 10 with a low trait‐anxiety score performed a computer task involving series of fast but well‐dosed accelerations of the forearm along the surface of a digitizer. To induce cognitive stress a tone had to be remembered simultaneously with the aiming task. Pen‐tip displacements and surface electromyographic (EMG) signals were recorded from four forearm muscles.ResultsMemory load did not affect error rates but produced shorter reaction times and prolonged movement times. EMG data show that under stress overall levels of neuromotor activation were enhanced. High‐anxious participants exhibited higher cocontraction levels than low‐anxious participants.ConclusionsThe findings support the view that stress and muscular tension are closely related and may provide a clue to the origin of WRUEDs. Am. J. Ind. Med. 41:406–419, 2002. © 2002 Wiley‐Liss, Inc.
A hyperventilation theory of job stress and musculoskeletal disorders*
Authors: Schleifer Lawrence M. , Ley Ronald , Spalding Thomas W. 
Published: August 2002

AbstractBackgroundThere is evidence of a link between job stress and upper extremity work‐related musculoskeletal disorders. However, the biobehavioral mechanisms by which psychosocial stress factors contribute to the development of musculoskeletal disorders are uncertain.MethodsBased on established principles of breathing and job stress and the relevant empirical literatures, a hyperventilation theory of job stress and work‐related musculoskeletal disorders was developed.ResultsHyperventilation (overbreathing) refers to a drop in arterial CO2 caused by ventilation that exceeds metabolic demands for O2. Excessive loss of CO2 (increase in rate of flow of CO2 from cells to longs) that results from hyperventilation produces a rise in blood pH (i.e., respiratory alkalosis). This disruption in the acid–base equilibrium triggers a chain of systemic physiological reactions that have adverse implications for musculoskeletal health, including increased muscle tension, muscle spasm, amplified response to catecholamines, and muscle ischemia and hypoxia. Hyperventilation is often characterized by a shift from a diaphragmatic to a thoracic breathing pattern, which imposes biomechanical stress on the neck/shoulder region due to the ancillary recruitment of sternocelidomastoid, scalene, and trapezius muscles in support of thoraci breathing.ConclusionsA hyperventilation theory provides an innovative framework for understanding how job stress contributes to pathophysiological processes that increase the risk of work‐related musculoskeletal disorders. With respect to the control of these disorders, a hyperventilation theory has important implications for establishing effective work organization interventions and individual stress‐management methods. In this regard, breathing is a biobehavioral metric for assessing whether psychosocial aspects of work organization are in balance with a worker's needs and resources. A hyperventilation theory also provides a unique rationale for coping with job stress and musculoskeletal discomfort through breathing training, light physical exercise, and rest breaks. Am. J. Ind. Med. 41:420–432, 2002. © 2002 Wiley‐Liss, Inc.
A historical cohort mortality study among shipyard workers in Genoa, Italy
Authors: Puntoni Riccardo , Merlo Franco , Borsa Luca , Reggiardo Giorgio , Garrone Elsa , Ceppi Marcello 
Published: August 2002

AbstractBackgroundA historical cohort mortality study was conducted among 3984 shipyard workers assigned to ship repair, refitting, and construction in the harbor of Genoa, Italy, between 1960 and 1981. These workers were exposed to asbestos fibers, welding fumes and gases, silica dust, polycyclic aromatic hydrocarbons, and solvents.MethodsWorkers were classified in 20 different job‐titles depending upon the type of activity. Standardized mortality ratios (SMRs) were computed using male residents of the Province of Genoa as the referent population.Results and ConclusionsFor the whole cohort significantly increased SMRs were detected for all causes, all cancers, liver, larynx, lung, pleural and bladder cancers, respiratory tract diseases, and cirrhosis of the liver. The analysis by job‐title showed increased SMRs not only for pleural cancer, but also for lung, laryngeal cancers and respiratory tract diseases in occupations entailing heavy asbestos exposure. Bladder and liver cancers and liver cirrhosis mortality also appeared to be related to occupational exposure. Am. J. Ind. Med. 40:363–370, 2001. © 2001 Wiley‐Liss, Inc.
Allelic association analysis of the dopamine D2, D3, 5‐HT2A, and GABAAγ2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects
Authors: Li Tao , Liu Xiehe , Zhao Jinghua , Hu Xun , Ball David M. , Loh El‐Wui , Sham Pak C. , Collier David A. 
Published: August 2002

AbstractFive candidate genes, the receptors DRD2, DRD3, HTR2A and GABAAγ2, and the serotonin transporter (5‐HTT) were analyzed for association with heroin abuse. We examined three polymorphisms (promoter − 141ΔC, Ser311Cys, and TaqI) in the DRD2 gene, one polymorphism (Ser9Gly) in the DRD3 gene, two polymorphisms (promoter − 1438G/A and T102C) in the HTR2A gene, two polymorphisms (VNTR and Del/Ins) in 5‐HTT gene, and one polymorphism (G3145A) in GABAAγ2 gene in 121 Chinese heroin addicts and 194 controls. None of the polymorphisms differed significantly for allele, genotype, or haplotype frequencies, except for the DRD2 promoter polymorphism − 141ΔC (genotype‐wise and allele‐wise, P = 0.05, uncorrected). An additional 344 subjects with heroin abuse and 104 controls were investigated for the − 141ΔC polymorphism. In the second sample, there were no significant difference of genotype or allele frequencies between subjects with heroin abuse and normal controls. When we divided the sample by route of administration into nasal inhalers and IM or IV injectors, however, it produced a significant difference between inhalers of heroin and controls (genotype‐wise, P = 0.006, allele‐wise, P = 0.016) but not for injectors of heroin (genotype‐wise, P = 0.81, allele‐wise, P = 0.69). We also found that LD between all polymorphisms we examined in the gene was weak, possibly explaining why we see association of this polymorphism with heroin abuse but not with other markers in the gene. Overall our results indicates that the HTR2A, 5‐HTT, DRD3 and GABAAγ2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter − 141ΔC polymorphism. © 2002 Wiley‐Liss, Inc.
Serious genetic disorders: Can or should they be defined?*
Authors: Wertz Dorothy C. , Knoppers Bartha Maria 
Published: August 2002

AbstractThe word “serious” appears in laws and policies regarding genetics services but is not defined. Genetics professionals would most likely be consulted if definitions are made. We surveyed all U.S. board‐certified genetics services providers and all members of the European Society of Human Genetics (ESHG), Canadian College of Medical Geneticists (CCMG), and Ibero‐American Society of Human Genetics (IASHG), using anonymous, mailed questionnaires. Respondents were asked to list three conditions they considered lethal, three that were serious but not lethal, and three that were not serious. Of 3,317 asked to respond, 1,481 (45%) returned questionnaires. Analysis was limited to responses of the 1,264 (85%) who saw patients. Respondents listed 537 conditions, with extensive overlap between categories; 46% of conditions listed as serious were also listed as not serious and 41% were listed as lethal. Respondents did not want professional societies, laws, or national ethics committees to define serious. They favored individual patients as decision makers, with the help of individual doctors. Their reasons were that genetic disorders vary in expression, individuals perceive disorders differently, professional or legal definitions could be unfair to minority groups, definitions tend to be inflexible when new treatments appear. In the United States, most would not use a definition of serious to limit reproductive services, carrier screening, or neonatal intensive care; outside the United States, more supported limitations. There is not sufficient consensus among experienced genetics professionals to define serious genetic conditions for purposes of law or policy. Responses point to social and economic influences on perceptions of what constitutes a serious genetic disorder. © 2002 Wiley‐Liss, Inc.
A deletion–insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation‐Ia
Authors: Tayebi Nahid , Andrews David Q. , Park Joseph K. , Orvisky Eduard , McReynolds John , Sidransky Ellen , Krasnewich Donna M. 
Published: August 2002

AbstractCongenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomannomutase (PMM2), manifests with severe abnormalities in psychomotor development, dysmorphic features and visceral involvement. While this disorder is panethnic, we present the first cases of CDG‐Ia identified in an African American family with two affected sisters. The proband had failure to thrive in infancy, hypotonia, ataxia, cerebellar hypoplasia and developmental delay. On examination, she also exhibited strabismus, inverted nipples and an atypical perineal fat distribution, all features characteristic of CDG‐Ia. Direct sequencing demonstrated that the patient had a unique genotype, T237M/c.565‐571 delAGAGAT insGTGGATTTCC. The novel deletion–insertion mutation, which was confirmed by subcloning and sequencing of each allele, introduces a stop codon 11 amino acids downstream from the site of the deletion. The presence of this deletion–insertion mutation at cDNA position 565 suggests that this site in thePMM2gene may be a hotspot for chromosomal breakage. Published 2002 Wiley‐Liss, Inc.
Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio‐facio‐cutaneous syndrome?
Authors: Rauen Katherine A. , Albertson Donna G. , Pinkel Daniel , Cotter Philip D. 
Published: August 2002

AbstractCardio‐facio‐cutaneous (CFC) syndrome is characterized by a distinct facial appearance, cardiac defects, ectodermal anomalies and developmental delay. Recently, we reported a 19‐month‐old girl with phenotypic manifestations consistent with the CFC syndrome who had an interstitial deletion of the long arm of chromosome 12, del(12)(q21.2q22), implicating a possible locus for CFC syndrome. Here, we report an additional patient with a cytogenetically identical interstitial deletion: 47,XYY,del(12)(q21.2q22). To further characterize this deletion we used microarray‐based comparative genomic hybridization (array CGH). Array CGH confirmed both the deletion and the second Y chromosome. The deletion on chromosome 12q spanned at least 14 Mb as indicated by the positions on the genome sequence of the 4 BAC clones included in the deletion. While the proband did not have the classic features of CFC, he had some dysmorphic craniofacial characteristics, ectodermal anomalies and moderate developmental delay which were suggestive of CFC syndrome; however, this patient did not have classical CFC. The phenotypic differences between the two del(12)(q21.2q22) patients may be due to variability in the expression of the syndrome, or this deletion may present as a syndrome with overlapping features. Alternatively, the phenotypic differences may result from discordance at the molecular level, which may yield a critical minimal region of deletion for CFC. The region 12q21.2 → q22 remains a possible candidate region for CFC syndrome. Additional characterization of these and other CFC patients may confirm and further refine this candidate region. © 2002 Wiley‐Liss, Inc.
Meiosis and chromosome painting of sex chromosome systems in Ceboidea
Authors: Mudry M.D. , Rahn I.M. , Solari A.J. 
Published: August 2002

AbstractThe identity of the chromosomes involved in the multiple sex system ofAlouatta caraya(Aca) and the possible distribution of this system among other Ceboidea were investigated by chromosome painting of mitotic cells from five species and by analysis of meiosis at pachytene in two species. The identity of the autosome #7 (X2) involved in the multiple system ofAcaand its breakage points were demonstrated by both meiosis and chromosome painting. These features are identical to those described by Consigliere et al. [1996] inAlouatta seniculus sara(Assa) andAlouatta seniculus arctoidea(Asar). This multiple system was absent in the other four Ceboidea species studied here. However, data from the literature strongly suggest the presence of this multiple in other members of this genus. The presence of this multiple system among several species and subspecies that show high levels of chromosome rearrangements may suggest a special selective value of this multiple. The meiotic features of the sex systems ofAcaandCebus apella paraguayanus(Cap) are strikingly different at pachytene, as the latter system is similar to the sex pair of man and other primates. The relatively large genetic distances between species presently showing this multiple system suggest that its origin is not recent. Other members of the same genus should be investigated at meiosis and by chromosome painting in order to know the extent and distribution of this complex sex‐chromosome system. Am. J. Primatol. 54:65–78, 2001. © 2001 Wiley‐Liss, Inc.
Sources of variability in numbers of live births in wild golden lion tamarins (Leontopithecus rosalia)
Authors: Bales Karen , O’Herron Michelle , Baker Andrew J. , Dietz James M. 
Published: August 2002

AbstractWe examined the effects of several variables on the number of live births in multiparous females in a wild population of golden lion tamarins (Leontopithecus rosalia). Independent variables included the number of infants born to a female the previous breeding season, the number of infants weaned the previous breeding season, the female’s age and body mass, the number of adult males and helpers in the group, and the inbreeding coefficient of the offspring. We also tested the hypothesis that trapping and chemical immobilization during pregnancy affected the number of live births. Female body mass was the only statistically significant predictor of the number of live‐born infants in the current season when both first and second peaks were included. Characteristics that predicted higher numbers of infants in the first peak of a season were the number of infants born the previous season and the body mass of the female. The greater the number of infants born the previous season, the greater the number of infants born in the first peak of the current season. Factors positively correlated with the number of live births in the second peak within a season included the number of infants born the previous season, as well as the number of available helpers. Due to sample size constraints, the analysis of litters in the second peak did not include body mass of the female as a variable. Inbreeding and handling did not affect the number of live births. We found no evidence that current reproduction negatively impacts future reproduction in this species. We also found no evidence for an age‐related reduction in fertility. Am. J. Primatol. 54:211–221, 2001. © 2001 Wiley‐Liss, Inc.
Identifying metameric variation in extant hominoid and fossil hominid mandibular molars
Authors: Hlusko Leslea J. 
Published: August 2002

AbstractLandmark data were collected from cross sections and occlusal images of mandibular molar crowns, and Euclidean distance matrix analysis (EDMA) was used to identify metameric morphological variation between the first and second mandibular molars of living taxa: Gorilla gorilla (n = 30), Pan troglodytes (n = 34), and Homo sapiens (n = 26). Two patterns of metameric variation were identified, one unique to humans and the other shared by chimpanzees and gorillas.In order to assess the utility of this type of analysis for the interpretation of the hominid fossil record, 19 mandibular molars from Sterkfontein Member 4, South Africa, were examined. The pattern of metameric variation of the Sterkfontein molars resembled that of the African great apes, and differed from the modern human pattern. These results demonstrate that data on metameric variation may provide information regarding function or developmental processes previously indiscernible from fossil material. Am J Phys Anthropol 118:86–97, 2002. © 2002 Wiley‐Liss, Inc.