bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cyclic immune thrombocytopenia responsive to thrombopoietic growth factor therapy
Authors: Rice Lawrence , Nichol Janet L. , McMillan Robert , Roskos Lorin K. , Bacile Margaret 
Published: August 2002

AbstractWe report a patient with cyclic thrombocytopenia and antiplatelet antibodies, a variant of chronic immune thrombocytopenic purpura (ITP), with a several year history of periodic fluctuation of the platelet count, megakaryocytic hyperplasia and high‐titer anti‐GPIb‐specific antiplatelet antibodies. The patient was resistant to multiple forms of therapy but has responded to the thrombopoietic growth factor, pegylated recombinant human megakaryocyte growth and development factor (PEG‐rHuMGDF). This case suggests that some patients with classic ITP may respond to thrombopoietic growth factors. Am. J. Hematol. 68:210–214, 2001. © 2001 Wiley‐Liss, Inc.
Genetic admixture in three mexican mestizo populations based on D1S80 and HLA‐DQA1 Loci
Authors: Cerda‐Flores Ricardo M. , Villalobos‐Torres Maria C. , Barrera‐Saldaña Hugo A. , Cortés‐Prieto Lizette M. , Barajas Leticia O. , Rivas Fernando , Carracedo Angel , Zhong Yixi , Barton Sara A. , Chakraborty Ranajit 
Published: August 2002

AbstractThis study compares genetic polymorphisms at the D1S80 and HLA‐DQA1 loci in three Mexican Mestizo populations from three large states (Nuevo León, Jalisco, and the Federal District). Allele frequency distributions are relatively homogenous in the three samples; only the Federal District population shows minor differences of the HLA‐DQA1 allele frequencies compared with the other two. In terms of genetic composition, these Mestizo populations show evidence of admixture with predominantly Spanish‐European (50–60%) and Amerindian (37–49%) contributions; the African contribution (1–3%) is minor. Together with the observation that in Nuevo León, the admixture estimates based on D1S80 and HLA‐DQA1, are virtually the same as those reported earlier from blood group loci, suggests that DNA markers, such as D1S80 and HLA‐DQA1 are useful for examining genetic homogeneity/heterogeneity across Mestizo populations of Mexico. The inverse relationship of the proportion of gene diversity due to population differences (Gst) to within population gene diversity (Hs) is also consistent with theoretical predictions, supporting the use of these markers for population genetics studies. Am. J. Hum. Biol. 14:257–263, 2002. © 2002 Wiley‐Liss, Inc.
Performance and quality measurement in occupational health services: Current status and agenda for further research
Authors: Pransky Glenn , Benjamin Katy , Dembe Allard E. 
Published: August 2002

AbstractBackgroundThere is growing interest in evaluating the impact and effectiveness of occupational healthcare services (OHS). Managed care networks, case and disease management, worker health promotion, and utilization review services have proliferated in OHS, usually without scientifically based, objective measures of their impact on the quality of care, outcomes, or costs. Performance and quality improvement (QI) efforts in OHS are different from those in general health care because the population, range of conditions, setting of care, and primary outcomes of interest differ considerably. However, scientific knowledge resulting from the application of QI in general health care can provide a useful framework for the development of measures in OHS.MethodsWe describe the development, selection, and evaluation of OHS performance and quality measures, and propose a research agenda.ConclusionsQuality and performance measures in OHS should address common work‐related conditions with high costs, suboptimal outcomes, or unclear parameters for ideal practices. They should reflect stakeholder priorities. Measures should be precise and quantifiable, clearly specified, reliable, valid, and sensitive to important changes. They should be based upon data that can be collected and analyzed at a reasonable cost and effort. The focus of measurement should be on situations where improvement can be achieved by those directly involved in OHS delivery, through defined approaches. Appropriate severity and case‐mix adjustment may be especially problematic in OHS. Confidentiality, regulatory concerns, and appropriate use of results must be considered in the development and use of OHS measures. Research is needed to identify, develop, and validate OHS‐specific measures, to establish risk adjustment methods, and to test the utility of this information in improving OHS. Am. J. Ind. Med. 40:295–306, 2001. © 2001 Wiley‐Liss, Inc.
Hereditary intraosseous vascular malformation of the craniofacial region: An apparently novel disorder
Authors: Vargel Ibrahim , Cil Barbaros E. , Er Nuray , Ruacan Sevket , Akarsu A. Nurten , Erk Yucel 
Published: August 2002

AbstractPrimary intraosseous vascular anomaly, previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is exclusively described in sporadic cases and no hereditary component has yet been reported. The most commonly affected bones in the skull are the mandible and the maxilla, and life‐threatening bleeding after a simple tooth extraction is frequently observed. Here, we report two consanguineous families containing a total of four affected patients manifesting primary intraosseous vascular malformation (VMOS (vascular malformation osseous)) of the craniofacial region. The phenotypic expression is remarkably similar in both families. The characteristic findings include severe blood vessel expansions within the craniofacial bones and midline abnormalities such as diastasis recti, supraumbilical raphe, and hiatus hernia. Malformation is restricted to the mandibular and maxillary area in the prepubertal age, and rapid expansion starts after age 12 or 13. A 15‐year follow‐up of one of the patients demonstrated that the vascular malformation did not extend beyond the craniofacial region despite severe involvement of almost all bones in the skull. Detailed clinical and radiological evaluation provided neither evidence of soft‐tissue involvement nor any sign of gross arterial, venous, or combined malformations, indicating that bone changes are a primary rather than a secondary effect due to any other vascular anomaly in the craniofacial region. An antibody against a universal proliferation marker, Ki‐67, detected nonproliferative, single‐layered endothelial cells, suggesting that this abnormality is a vascular malformation rather than a hemangioma. α‐actin staining (antibody against perivascular tissue such as smooth muscle cells (SMCs) and/or pericytes) demonstrated that pathologic vessels lost their surrounding supportive tissues, as was previously seen in other types of vascular anomaly. Homozygosity mapping excluded the following loci and/or genes: multiple cutaneous venous malformation (VMCM1; gene, TIE2) on chromosome 9p21; venous malformation with glomus cells (VMGLOM) on chromosome 1p22‐p21; hereditary hemorrhagic telangiectasia type 1 (HHT1; gene, endoglin) and type 2 (HHT2; gene, activin) on chromosomes 9q34.1 and 12q11‐q14, respectively; and cerebral cavernous malformation type 1 (CCM1; gene, KRIT1), type 2 (CCM2), and type 3 (CCM3) on chromosomes 7q11.2‐q21, 7p15‐p13, and 3q35.2‐q27, respectively. To the best of our knowledge, this is a new disorder, which we call hereditary intraosseous vascular malformation of the craniofacial region. © 2002 Wiley‐Liss, Inc.
Relationship of the delta‐opioid receptor gene to heroin abuse in a large Chinese case/control sample
Authors: Xu Ke , Liu Xie‐he , Nagarajan Saumya , Gu Xiao‐Yong , Goldman David 
Published: August 2002

AbstractPharmacological and electrophysiological evidence has shown that opioid receptors are involved in the mechanism of heroin dependence. Thus, opioid receptors are appropriate candidate genes for case‐control association studies of heroin dependence. Previously, two single nucleotide polymorphisms (SNPs), OPRD1 921T > C and 80G > T, of the human δ opioid receptor gene were used in population‐based studies of heroin dependence. One study in a German population found that OPRD1 921T > C was associated with heroin dependence. This finding, however, was not replicated in a different German sample. To test the hypothesis that OPRD1 or a closely linked gene is associated with heroin dependence, we used 5′ nuclease assays to genotype both OPRD1 SNPs in 450 Chinese heroin dependent patients and 304 unaffected controls from the same population. In addition, five SNPs distributed in four other genes: ADH2, ALDH2, OPRM1, and DRD1, were used as genomic control loci to test the case and control populations for stratification bias. Genotype and allele frequencies at OPRD1 921T > C were not significantly different, and the OPRD1 80G was absent from both Chinese opioid dependence patients and controls. Based on the genotype and allele frequencies of the genomic control loci, there was no evidence for stratification bias capable of masking an association of OPRD1 to heroin dependence in this large and homogenous Chinese sample. Therefore, these data do not support an association between the OPRD1 gene and heroin dependence in the Chinese population. Published 2002 Wiley‐Liss, Inc.
Genetic counseling for sex chromosome abnormalities
Authors: Linden Mary G. , Bender Bruce G. , Robinson Arthur 
Published: August 2002

AbstractSex chromosome abnormalities (SCAs) are the most frequently occurring chromosomal abnormalities encountered at both prenatal diagnosis and at birth. Approximately 1/400 newborns has an SCA, and incidence at prenatal diagnosis is even greater, 1/250 to 1/300. Physicians and health providers from various specialties are encountering diagnoses of SCAs with increased frequency as more individuals are becoming identified, both prenatally and postnatally. Because these conditions generally have relatively few serious physical implications and because they are extremely variable, genetic counseling is often more complex and challenging than that occurring with an autosomal abnormality. It is imperative that health professionals have the knowledge of content and methodology to provide appropriate counseling to such individuals and their families. During the period from 1964 to 1975, seven international groups (including the Denver group) screened a total of 199,898 consecutive births and identified 307 individuals with SCA. The Denver group has followed more than 40 such individuals from birth to adulthood. In addition, the Denver group has experience in counseling over 1,000 families with a prenatal diagnosis of SCA. Based on these studies and contacts, guidelines for the counseling of individuals and families with SCA are provided. Accurate information must be presented and the variability and imprecise prognosis recognized. Successful counseling strategies include interfamily contact, viewing photographs, and utilizing support groups. Issues of disclosure, follow‐up, and anticipatory guidance should be addressed. © 2002 Wiley‐Liss, Inc.
Additional evidence that genetic variation of MAO‐A gene supports a gender subtype in obsessive‐compulsive disorder
Authors: Camarena Beatriz , Rinetti Gina , Cruz Carlos , Gómez Amalia , de la Fuente Juan R. , Nicolini Humberto 
Published: August 2002

AbstractStudies have recently reported a sexually dimorphic association between obsessive‐compulsive disorder (OCD) and a polymorphism related with variations in MAO‐A activity. These observations suggest the possibility of gender differences in genetic susceptibility for OCD. We thus reexamined the MAO‐A/EcoRV polymorphism in a sample of 122 OCD patients and 124 healthy subjects. An excess of allele 1 in OCD females with major depression disorder was confirmed as previously reported. This difference was more strongly associated with OCD females than males in the total sample. Finally, we analyzed a sample of 51 OCD trios. Haplotype‐based haplotype relative risk (HHRR) analysis of the inheritance of the MAO‐A variants revealed in the female probands that 14 out of 19 transmitted the allele 1, providing significant evidence for an allelic association between OCD and MAO‐A gene. In conclusion, our findings may provide molecular evidence to identify a clinically meaningful gender subtype. However, an effort should be made to replicate the analysis in larger samples of informative parents using strategies such as transmission disequilibrium test to allow definite conclusions. © 2001 Wiley‐Liss, Inc.
Serotonin transporter gene polymorphisms are associated with anxiety‐related personality traits in women
Authors: Melke Jonas , Landén Mikael , Baghei Fariba , Rosmond Roland , Holm Göran , Björntorp Per , Westberg Lars , Hellstrand Monika , Eriksson Elias 
Published: August 2002

AbstractSeveral studies have reported an association between anxiety‐related personality traits and a promoter polymorphism in the human serotonin transporter (5‐HTT) gene (5‐HTT gene‐linked polymorphic region, 5‐HTTLPR). In the present study, a population of 251 subjects was assessed with the Karolinska Scales of Personality (KSP) and genotyped both for the 5‐HTTLPR and for a variable number of tandem repeats polymorphism in the second intron of the same gene. The interpretation of previous studies has to some extent been confounded by the studied subjects differing with respect to ethnicity, sex, and age. To circumvent this problem, all included subjects were Caucasians, women, and born in the same year (1956). Associations were found between the 5‐HTTLPR and four of the five anxiety‐related KSP scales (psychic anxiety, muscular tension, psychasthenia, and lack of assertiveness), subjects being homozygous for the short allele displaying higher anxiety scores than those of the long/long or long/short genotype. In addition, an association was found between the intron 2 polymorphism and one anxiety‐related personality trait (somatic anxiety). © 2001 Wiley‐Liss, Inc.
Mutation screening of the dopamine D2 receptor gene in attention‐deficit hyperactivity disorder subtypes: Preliminary report of a research strategy
Authors: Todd Richard D. , Lobos Elizabeth A. 
Published: August 2002

AbstractAttention‐deficit hyperactivity disorder (ADHD) is a highly heritable syndrome with onset in childhood that is associated with clinical response to drugs, which increase the release of monoamines, especially dopamine. A variety of studies have reported on genetic associations of ADHD with polymorphisms for various component genes of the dopamine pathway. The promise of preliminary associations found with several genes is mitigated by the significant controversy that exists over what are the appropriate clinical characteristics of ADHD associated with its familial transmission. In the current report, we describe a strategy for mutation screening in common, complex disorders and its application to the systematic screening for coding region variation in the dopamine D2 receptor (DRD2) gene. We used groups of individuals who met diagnostic criteria for DSM‐IV–defined ADHD subtypes, as well as recently defined latent class criteria for pure familial forms of ADHD. No coding region sequence variations were identified in the DRD2 gene that met our requirements for prevalence to be considered a candidate variant contributing to susceptibility for ADHD. © 2001 Wiley‐Liss, Inc.
Sources of variation in the nesting behavior of chimpanzees (Pan troglodytes schweinfurthii) in the Budongo forest, Uganda
Authors: Brownlow A.R. , Plumptre A.J. , Reynolds V. , Ward R. 
Published: August 2002

AbstractData on nesting behavior and nests of the Sonso community of chimpanzees (Pan troglodytes schweinfurthii) living in the Budongo Forest, Uganda, were collected between October 1995 and December 1996. Analysis of the selection of nests shows a preference for particular tree species, especially Cynometra alexandri. Male chimpanzees nested lower than females. Day nests were found to be structurally simpler than night nests and were built in tree species used for feeding, at the same height as feeding activity. Day and night nests serve different functions, and should be clearly distinguished in studies of nesting behavior. Am. J. Primatol. 55:49–55, 2001. © 2001 Wiley‐Liss, Inc.
Characterization and screening of microsatellite loci in a wild lemur population (Propithecus verreauxi verreauxi)
Authors: Lawler Richard R. , Richard Alison F. , Riley Margaret A. 
Published: August 2002

AbstractSixteen dinucleotide microsatellite loci were isolated from the genome of Propithecus verreauxi verreauxi. All loci were polymorphic when genotyped on a minimum of 16 animals. The number of alleles across these loci ranges from two to 11. Additionally, seven of these loci were genotyped across a minimum of 200 animals in order to estimate heterozygosity and their potential for parentage assignment in this population. Using these seven loci, the mean heterozygosity in this population is 0.705, and the combined probability of these seven loci to exclude a random individual from parentage, when one parent is known, is 0.996. These data suggest that these loci will be useful for estimating a variety of population genetic and genealogical parameters in P. v. verreauxi populations. Am. J. Primatol. 55:253–259, 2001. © 2001 Wiley‐Liss, Inc.
Sperm quality differences between the rainy and dry seasons in captive black‐handed spider monkeys (Ateles geoffroyi)
Authors: Hernández‐López Leonor , Parra Gerardo Cerezo , Cerda‐Molina Ana Lilia , Pérez‐Bolaños Stephanella C. , Sánchez Vicente Díaz , Mondragón‐Ceballos Ricardo 
Published: August 2002

AbstractThe present work provides an assessment of sperm measures (concentration, motility, viability, etc.) of three black‐handed spider monkeys (Ateles geoffroyi) during the rainy and dry seasons in Mexico City, as well as an evaluation of the between‐subjects variability of sperm quality. Twenty samples obtained by rectal electroejaculation and digested with trypsin were evaluated. The results showed that during the dry season (n = 9) the semen samples were of better quality than those obtained during the rainy season (n = 11). The individual animals showed differences in sperm concentration, although there were no differences in sperm quality. Am. J. Primatol. 57:35–41, 2002. © 2002 Wiley‐Liss, Inc.
Brief communication: Cranial reconstruction of Dryopithecus
Authors: Köhler Meike , Moyà‐Solà Salvador , Alba David M. 
Published: August 2002

AbstractThis paper presents the first three‐dimensional reconstruction of the cranium of the European Miocene ape, Dryopithecus. The reconstruction is based on remains collected from Can Llobateres, Spain (CLI 18000; Dryopithecus laietanus), D. fontani (St. Gaudens), and D. brancoi (Kordos and Begun [1997] Am. J. Phys. Anthropol. 103:277–294). Previously unrecognized facial fragments from CLI 18000 were included in the reconstruction. The result shows that Dryopithecus had a relatively short face, with a rather short and well‐rounded neurocranium. From the lateral perspective, the face is concave at midface, and on the cranium the temporal lines run parallel to each other without forming a sagittal crest. Am J Phys Anthropol 115:284–288, 2001. © 2001 Wiley‐Liss, Inc.
Linking structural variability in long bone diaphyses to habitual behaviors: Foragers from the southern African Later Stone Age and the Andaman Islands
Authors: Stock Jay , Pfeiffer Susan 
Published: August 2002

AbstractThe cross‐sectional distribution of cortical bone in long bone diaphyses is highly responsive to mechanical loading during life, yet the relationship between systemic and localized influences on skeletal structure remains unclear. This study investigates postcranial robustness throughout the body among adults from two groups of foragers with different patterns and modes of mobility, to determine whether there is evidence for upper vs. lower body localization of skeletal robustness. The samples used for this comparison are from the southern African Later Stone Age (LSA; n = 65, male = 33, female = 28) dating from ca. 10,000 to 2,000 B.P., and 19th century indigenous Andaman Islanders (AI; n = 36, male = 17, female = 16). The LSA were highly mobile foragers who did not exploit offshore marine resources. In contrast, the AI had tightly constrained terrestrial, but significant marine, mobility. Geometric properties of cortical bone distribution in the diaphyses of the clavicle, humerus, femur, tibia, and first metatarsal are compared between the samples, providing a representation of skeletal robustness throughout the body. Multivariate ANOVA shows the AI to have significantly stronger clavicles and humeri, while the LSA femora, tibiae, and first metatarsals are stronger than those of the AI. These patterns, in which upper and lower limbs show biomechanical properties that are consistent with habitual behaviors, suggest localized osteogenic response. Although postcranial robustness appears to be correlated with overall limb function, the results suggest that more proximal elements within the limb may be more responsive to mechanical loading. Am J Phys Anthropol 115:337–348, 2001. © 2001 Wiley‐Liss, Inc.
Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms
Authors: Momose Yoshio , Murata Miho , Kobayashi Kazuhiro , Tachikawa Masaji , Nakabayashi Yuko , Kanazawa Ichiro , Toda Tatsushi 
Published: August 2002

AbstractWe studied 20 single nucleotide polymorphisms in 18 candidate genes for association with Parkinson's disease. We found that homozygosity for the V66M polymorphism of the brain‐derived neurotrophic factor (BDNF) gene occurs more frequently in patients with Parkinson's disease than in unaffected controls (χ2 = 5.46) and confirmed an association with the S18Y polymorphism of the UCH‐L1 gene. Our results provide genetic evidence supporting a role for BDNF in the pathogenesis of Parkinson's disease.
X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings
Authors: Bonneau Dominique , Toutain Annick , Laquerrière Annie , Marret Stéphane , Saugier‐Veber Pascale , Barthez Marie‐Anne , Radi Sophie , Biran‐Mucignat Valérie , Rodriguez Diana , Gélot Antoinette 
Published: August 2002

AbstractX‐linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome responsible for a severe neurological disorder of neonatal onset in boys. Based on the observations of 3 new cases, we confirm the phenotype in affected boys, describe additional MRI findings, report the neuropathological data, and show that carrier females may exhibit neurological and magnetic resonance imaging abnormalities. In affected boys, consistent clinical features of X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia are intractable epilepsy of neonatal onset, severe hypotonia, poor responsiveness, genital abnormalities, and early death. On magnetic resonance imaging, a gyration defect consisting of anterior pachygyria and posterior agyria with a moderately thickened brain cortex, dysplastic basal ganglia and complete agenesis of the corpus callosum are consistently found. Neuropathological examination of the brain shows a trilayered cortex containing exclusively pyramidal neurons, a neuronal migration defect, a disorganization of the basal ganglia, and gliotic and spongy white matter. Finally, females related to affected boys may have mental retardation and epilepsy, and they often display agenesis of the corpus callosum. These findings expand the phenotype of X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia, may help in the detection of carrier females in affected families, and give arguments for a semidominant X‐linked mode of inheritance.