bluuebunny/crossref_metadata_2025_split huggingface dataset:
A prospective study of computer users: I. Study design and incidence of musculoskeletal symptoms and disorders
Authors: Gerr Fredric , Marcus Michele , Ensor Cindy , Kleinbaum David , Cohen Susan , Edwards Alicia , Gentry Eileen , Ortiz Daniel J. , Monteilh Carolyn 
Published: August 2002

AbstractBackgroundA prospective study of computer users was performed to determine the occurrence of and evaluate risk factors for neck or shoulder (N/S) and hand or arm (H/A) musculoskeletal symptoms (MSS) and disorders (MSD).MethodsIndividuals (n = 632) newly hired into jobs requiring  ≥ 15 hr/week of computer use were followed for up to 3 years. At study entry, workstation dimensions and worker postures were measured and medical and psychosocial risk factors were assessed. Daily diaries were used to document work practices and incident MSS. Those reporting MSS were examined for specific MSD. Incidence rates of MSS and MSD were estimated with survival analysis. Cox regression models were used to evaluate associations between participant characteristics at entry and MSS and MSD.ResultsThe annual incidence of N/S MSS was 58 cases/100 person‐years and of N/S MSD was 35 cases/100 person‐years. The most common N/S MSD was somatic pain syndrome. The annual incidence of H/A MSS was 39 cases/100 person‐years and of H/A MSD was 21 cases/100 person‐years. The most common H/A disorder was deQuervain's tendonitis. Forty‐six percent of N/S and 32% of H/A MSS occurred during the first month of follow‐up. Gender, age, ethnicity, and prior history of N/S pain were associated with N/S MSS and MSD. Gender, prior history of H/A pain, prior computer use, and children at home were associated with either H/A MSS or MSD.ConclusionsH/A and N/S MSS and MSD were common among computer users. More than 50% of computer users reported MSS during the first year after starting a new job. Am. J. Ind. Med. 41:221–235, 2002. © 2002 Wiley‐Liss, Inc.
Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts
Authors: He Weigong , Tuck‐Muller Cathy M. , Martínez José E. , Li Shibo , Rowley Ewellonda R. , Wertelecki Wladimir 
Published: August 2002

AbstractA four‐month‐old white female, who was referred to us for genetic evaluation because of severe developmental delay, dysmorphic features, and bilateral cataracts, was found by routine cytogenetic analysis to have ring chromosome 16 in almost all cells analyzed. Ring chromosome 16 was confirmed and further delineated by fluorescence in situ hybridization (FISH). Breakpoints between loci D16S521 and KG8 on the short arm and D16S3121 and D16S303 on the long arm of chromosome 16 were determined by polymerase chain reaction (PCR) analysis. The deleted chromosome was of maternal origin. To our knowledge, this is the first case of ring chromosome 16 associated with bilateral cataracts. Comparison of previously reported cases with deletion of chromosome 16 and our case suggests the presence of cataract locus within 1 Mb of the terminus of 16q. © 2001 Wiley‐Liss, Inc.
Association of DRD4 in children with ADHD and comorbid conduct problems
Authors: Holmes Jane , Payton Antony , Barrett Jennifer , Harrington Richard , McGuffin Peter , Owen Michael , Ollier William , Worthington Jane , Gill Michael , Kirley Aiveen , Hawi Ziarih , Fitzgerald Michael , Asherson Philip , Curran Sarah , Mill John , Gould Alison , Taylor Eric , Kent Lyndsey , Craddock Nick , Thapar Anita 
Published: August 2002

AbstractRecent family and twin study findings suggest that ADHD when comorbid with conduct problems may represent a particularly familial and heritable form of ADHD. Although several independent groups have shown association between the DRD4 7 repeat allele and ADHD, others have failed to replicate this finding. Previous TDT analyses of UK and Eire samples had also been negative. We set out to further examine the role of DRD4 but selecting a subgroup of children with ADHD and comorbid conduct problems. Families were recruited from Manchester, Ireland, Birmingham and London clinics. From these, 67 children who fulfilled diagnostic criteria for ADHD and who displayed conduct disorder symptoms were selected. TDT analysis, which had previously yielded negative results for the total sample, showed evidence of association between DRD4 and “ADHD with conduct problems” (7 repeat allele‐24 transmissions, 13 non‐transmissions; one‐tailed P = 0.05). These results provide further support for the role of DRD4 in ADHD. Furthermore, these results when considered together with family and twin study findings, suggest that those children with ADHD and comorbid conduct problems may be particularly informative for molecular genetic studies of ADHD. Further work is needed to examine these phenotype issues. © 2002 Wiley‐Liss, Inc.
Endophenotypes in bipolar disorder†
Authors: Lenox Robert H. , Gould Todd D. , Manji Husseini K. 
Published: August 2002

AbstractThe search for genes in bipolar disorder has provided numerous genetic loci that have been linked to susceptibility to developing the disorder. However, because of the genetic heterogeneity inherent in bipolar disorder, additional strategies may need to be employed to fully dissect the genetic underpinnings. One such strategy involves reducing complex behaviors into their component parts (endophenotypes). Abnormal neurophysiological, biochemical, endocrinological, neuroanatomical, cognitive, and neuropsychological findings are characteristics that often accompany psychiatric illness. It is possible that some of these may eventually be useful in subdefining complex genetic disorders, allowing for improvements in diagnostic assessment, genetic linkage studies, and development of animal models. Findings in patients with bipolar disorder that may eventually be useful as endophenotypes include abnormal regulation of circadian rhythms (the sleep/wake cycle, hormonal rhythms, etc.), response to sleep deprivation, P300 event‐related potentials, behavioral responses to psychostimulants and other medications, response to cholinergics, increase in white matter hyperintensities (WHIs), and biochemical observations in peripheral mononuclear cells. Targeting circadian rhythm abnormalities may be a particularly useful strategy because circadian cycles appear to be an inherent evolutionarily conserved function in all organisms and have been implicated in the pathophysiology of bipolar disorder. Furthermore, lithium has been shown to regulate circadian cycles in diverse species, including humans, possibly through inhibition of glycogen synthase kinase 3‐β (GSK‐3β), a known target of lithium. Published 2002 Wiley‐Liss, Inc.
Apparent replication of suggestive linkage on chromosome 16 in the NIMH genetics initiative bipolar pedigrees
Authors: Dick Danielle M. , Foroud Tatiana , Edenberg Howard J. , Miller Marvin , Bowman Elizabeth , Rau N. Leela , DePaulo J. Raymond , McInnis Melvin , Gershon Elliot , McMahon Francis , Rice John P. , Bierut Laura J. , Reich Theodore , Nurnberger John 
Published: August 2002

AbstractAnalyses of a replication sample of families collected as part of the National Institute of Mental Health (NIMH) Genetics Initiative for bipolar disorder provide further evidence for linkage to a region of chromosome 16. Families who had a bipolar I (BPI) proband and at least one BPI or schizoaffective, bipolar type (SABP) first‐degree relative were ascertained for the purpose of identifying genes involved in bipolar affective disorder. A series of hierarchical models of affected status was used in linkage analyses. Initial genetic analyses of chromosomes 3, 5, 15, 16, 17, and 22, completed at Indiana University in 540 subjects from 97 families, suggested evidence of linkage to chromosomes 5, 16, and 22 [Edenberg et al., 1997: Am J Med Genet 74:238–246]. Genotyping was subsequently performed on these chromosomes in a replication sample of 353 individuals from 56 families. Nonparametric linkage analyses were performed using both affected relative and sibling pair methods. Analyses in the new sample on chromosome 16, using the broadest model of affected status, corroborate previously reported suggestive linkage to the marker D16S2619. Combining the initial and replication samples further increased the evidence of linkage to this region, with a peak lod score of 2.8. © 2002 Wiley‐Liss, Inc.
DRD4 exon 3 variants associated with delusional symptomatology in major psychoses: A study on 2,011 affected subjects
Authors: Serretti Alessandro , Lilli Roberta , Lorenzi Cristina , Lattuada Enrico , Smeraldi Enrico 
Published: August 2002

AbstractWe previously reported an association of DRD4 exon3 long allele variants with delusional symptomatology independently from diagnoses. The aim of this investigation was to study DRD4 in major psychoses and to test the association in a larger sample. We studied 2,011 inpatients affected by bipolar disorder (n = 811), major depressive disorder (n = 635), schizophrenia (n = 419), delusional disorder (n = 104), psychotic disorder not otherwise specified (n = 42), and 601 healthy controls. A subsample of 1,264 patients were evaluated using the OPCRIT checklist and differences of symptomatology factor scores among genetic variants were assessed using one‐way analysis of variance (ANOVA). DRD4 allele and genotype frequencies in bipolars, schizophrenics, delusionals, and psychotic NOS were not significantly different from controls; major depressives showed a trend toward an excess of DRD4*Short and DRD4*Short/Short variants versus controls. The ANOVA on factor scores in the whole subsample of 1,264 subjects showed a significant difference on delusion factor in allele analysis (P = 0.007), and in genotype one (P = 0.018), with DRD4*Long containing variants associated with severe symptomatology. The analysis in the replication subjects only (n = 803) showed a trend in the same direction, though not reaching the significance level. This analysis in an enlarged sample suggests that DRD4*Long alleles exert a small but significant influence on the delusional symptomatology in subjects affected by major psychoses. © 2001 Wiley‐Liss, Inc.
Attention‐deficit hyperactivity disorder: A study of association with both the dopamine transporter gene and the dopamine D4 receptor gene
Authors: Roman Tatiana , Schmitz Marcelo , Polanczyk Guilherme , Eizirik Mariana , Rohde Luis A. , Hutz Mara H. 
Published: August 2002

AbstractAttention‐deficit hyperactivity disorder (ADHD) is one of the most common psychiatric disorders of childhood. The role of genetic factors in its etiology is strongly supported by family, adoption, and twin studies. Several investigations have reported associations between ADHD and both the 7‐repeat allele of the 48 bp VNTR at the DRD4 gene and the 10‐repeat allele of the 40 bp VNTR at the DAT1 gene, but the results have been inconsistent. A sample of 81 Brazilian ADHD children and adolescents and their parents were screened for these DRD4 and DAT1 VNTRs. An excess of the DRD4 7‐repeat allele was observed when both ADHD probands and their parents were compared with an ethnically matched control sample (chi‐square = 11.55, P = 0.03; chi‐square = 12.17, P = 0.03, respectively). However, haplotype relative risk (HRR) analysis showed no preferential transmission of the DRD4 7‐repeat allele. No evidence of association with the DAT1 polymorphism was detected by both approaches. Nevertheless, an interaction effect of both genes on ADHD hyperactive/impulsive dimension was observed (F = 4.68; P = 0.03). These results add to the group of studies that together suggest a small effect of these genes in the susceptibility to ADHD. © 2001 Wiley‐Liss, Inc.
Lack of association between the tryptophan hydroxylase gene A218C polymorphism and attention‐deficit hyperactivity disorder in Chinese Han population
Authors: Tang Guomei , Ren Daming , Xin Rener , Qian Yiping , Wang Dongyang , Jiang Sanduo 
Published: August 2002

AbstractPrevious studies have suggested that the serotonergic (5‐HT) system might be involved in the development of Attention‐deficit hyperactivity disorder (ADHD). ADHD is frequently characterized by aggressive and impulsive behavior, a major symptom associated with reduction in serotonergic function. The tryptophan hydroxylase (TPH) gene is a reasonable candidate for ADHD because it encodes the rate‐limiting enzyme in the process of 5‐HT biosynthesis. In this study, we examined the relationship between the A218C polymorphism in TPH gene and ADHD. Sixty‐nine ADHD patients and their biological parents were investigated. The A218C polymorphism in intron 7 of TPH gene was detected by PCR‐RFLP method. No allele or genotype concerned with this A218C polymorphism was found to be associated with ADHD when analyzed with the haplotype relative risk method. Therefore, our data indicate that the TPH gene A218C polymorphism may not be a susceptibility factor of ADHD in the Chinese Han population. © 2001 Wiley‐Liss, Inc.
Genetic, geographic, and linguistic variation among South American Indians: Possible sex influence
Authors: Fagundes Nelson J.R. , Bonatto S.L. , Callegari‐Jacques S.M. , Salzano F.M. 
Published: August 2002

AbstractTo better understand the relationship between genetic variability, geographical distance, and linguistic affiliation in South Amerinds, and to elucidate whether the migration rate is the same for both sexes, spatial autocorrelation, Mantel's test, and FST analyses were performed in four sets of populations and alleles (group 1: 48 populations, 12 alleles; group 2: 16 (all belonging to the Tupi linguistic group) and 12; group 3: 21 and 17; and group 4: 28 and 4 haplotypes). Groups 1–3 included blood group and protein (i.e., serum protein, red cell enzymes, and immunoglobulin systems), while group 4 was concerned with mitochondrial DNA (mtDNA) only. The latter set was also subjected to a molecular analysis of variance (AMOVA) evaluation. The frequencies of statistically significant correlograms were lower than those obtained in other populations when the blood groups and protein systems were considered, but 3 of the 4 mtDNA haplogroups gave suggestions of population structure. The variability in this organelle is also significantly correlated with language when geography is held constant. Migration per generation is generally low, but higher estimates were obtained for females. The AMOVA results suggest that populations whose members speak the same language are genetically homogeneous and may be viewed as the ultimate evolutionary unit at this level of analysis. Am J Phys Anthropol 117:68–78, 2002. © 2002 Wiley‐Liss, Inc.
Evidence of probable scurvy in subadults from archeological sites in North America
Authors: Ortner Donald J. , Butler Whitney , Cafarella Jessica , Milligan Lauren 
Published: August 2002

AbstractThe authors surveyed subadult human skeletons from Native American archeological sites in the United States for evidence of skeletal lesions associated with scurvy. Geographic regions surveyed include the Midatlantic area, the Southeast (Florida), the Southwest, and the Plains. The prevalence of probable subadult scurvy ranged from zero in the Plains samples to 38% in a small sample from Florida. These data indicate the likelihood that scurvy was a significant childhood disease in many Native American groups. Reasons for variation in prevalence remain speculative but include regional and seasonal variation in food types and abundance, cultural patterns of storage and utilization, periodic food shortages, and the relative importance of corn in the diet. These factors are part of a nutritional complex that is related to disease prevalence which can be studied through evidence seen in archeological human remains. Am J Phys Anthropol 114:343–351, 2001. © 2001 Wiley‐Liss, Inc.
Cranial deformation in a subadult sample from Değirmentepe (Chalcolithic, Turkey)
Authors: Özbek Metin 
Published: August 2002

AbstractHuman skeletal remains from the Chalcolithic period of Değirmentepe, Turkey, near the Euphrates River, display artificial cranial deformation of the circular type. Human skeletal remains belonging to 31 individual have been dated to the Chalcolithic period (second half of the fifth millennium BC, uncalibrated). The remains include foetuses, infants, children and juveniles; but no adult skeletons. Either the adults were buried elsewhere or flooding of the Euphrates dragged the adult remains away. Artificial cranial deformation was observed in 13 of the 31 subadults ranging in age from 1 month to 13–14 years. Değirmentepe villagers might have used one or two circular constricting bands with the intent of producing artificial head deformation. As far as Anatolia and the Near Eastern region is concerned, the widespread use of circular head deformation may be an indication of longer‐distance trade and more need for ethnic markers. Am J Phys Anthropol 115:238–244, 2001. © 2001 Wiley‐Liss, Inc.
Effect of therapeutic ionizing radiation on the human brain
Authors: Steen R. Grant , Spence David , Wu Shengjie , Xiong Xiaoping , Kun Larry E. , Merchant Thomas E. 
Published: August 2002

AbstractWe test a hypothesis that fractionated radiation therapy within a therapeutic dose range is associated with a dose‐related change in normal brain, detectable by quantitative magnetic resonance imaging. A total of 33 patients were examined by quantitative magnetic resonance imaging to measure brain tissue spin‐lattice relaxation time (T1) before treatment, and at various times during and after radiation therapy. A T1 map was generated at each time point, and radiation therapy isodose contours were superimposed on the corresponding segmented T1 map. Changes in white matter and gray matter T1 were analyzed as a function of radiation therapy dose and time since treatment, controlling for patient age and tumor site. In white matter, a dose level of more than 20Gy was associated with a dose‐dependent decrease in T1 over time, which became significant 6 months after treatment. There was no significant change in T1 of gray matter over time, at radiation therapy doses of less than 60Gy. However, GM in close proximity to the tumor had a lower T1 before therapy. Our results represent the first radiation dose‐response data derived from pediatric brain in vivo. These findings confirm that white matter is more vulnerable to radiation‐induced change than is gray matter, and suggest that T1 mapping is sensitive to radiation‐related changes over a broad dose range (20 to 60Gy). Human white matter T1 is not sensitive to radiation therapy of less than 20Gy, and gray matter T1 is unchanged over the dose range used to treat human brain tumor. The reduction of gray matter T1 near the tumor could result from compression of cortical parenchyma near the growing tumor mass, or from tumor cell invasion directly into the parenchyma. If brain T1 is a surrogate for radiation effect, reducing the volume of normal white matter receiving more than 20Gy could be an important treatment planning goal.
Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement
Authors: Inoue Ken , Tanaka Hajime , Scaglia Fernando , Araki Akiko , Shaffer Lisa G. , Lupski James R. 
Published: August 2002

AbstractA submicroscopic duplication that contains the entire proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease, an X‐linked central nervous system dysmyelinating disorder. Previous studies have demonstrated that carrier females for the duplication are usually asymptomatic. We describe 2 unrelated female patients who present with mild Pelizaeus‐Merzbacher disease or spastic paraplegia. In 1 patient, clinical features as well as cranial magnetic resonance imaging and brainstem auditory evoked potential results have improved dramatically over a 10‐year period. The other patient, who presented with spastic diplegia and was initially diagnosed with cerebral palsy, has also shown clinical improvement. Interphase fluorescent in situ hybridization identified a proteolipid protein gene duplication in both patients. Interphase fluorescent in situ hybridization analyses of the family members indicated that the duplication in both patients occurred as de novo events. Neither skewing of X inactivation in the peripheral lymphocytes nor proteolipid protein gene coding alterations were identified in either patient. These findings indicate that, occasionally, females with a proteolipid protein gene duplication can manifest an early‐onset neurological phenotype. We hypothesize that the remarkable clinical improvement is a result of myelin compensation by oligodendrocytes expressing one copy of proteolipid protein gene secondary to selection for a favorable X inactivation pattern. These findings indicate plasticity of oligodendrocytes in the formation of central nervous system myelin and suggest a potential role for stem cell transplantation therapies.
Factors that influence peripheral nerve regeneration: An electrophysiological study of the monkey median nerve
Authors: Krarup Christian , Archibald Simon J. , Madison Roger D. 
Published: August 2002

AbstractRegeneration in the peripheral nervous system is often incomplete though it is uncertain which factors, such as the type and extent of the injury or the method or timing of repair, determine the degree of functional recovery. Serial electrophysiological techniques were used to follow recovery from median nerve lesions (n = 46) in nonhuman primates over 3 to 4 years, a time span comparable with such lesions in humans. Nerve gap distances of 5, 20, or 50mm were repaired with nerve grafts or collagen‐based nerve guide tubes, and three electrophysiological outcome measures were followed: (1) compound muscle action potentials in the abductor pollicis brevis muscle, (2) the number and size of motor units in reinnervated muscle, and (3) compound sensory action potentials from digital nerve. A statistical model was used to assess the influence of three variables (repair type, nerve gap distance, and time to earliest muscle reinnervation) on the final recovery of the outcome measures. Nerve gap distance and the repair type, individually and concertedly, strongly influenced the time to earliest muscle reinnervation, and only time to reinnervation was significant when all three variables were included as outcome predictors. Thus, nerve gap distance and repair type exert their influence through time to muscle reinnervation. These findings emphasize that factors that control early axonal outgrowth influence the final level of recovery attained years later. They also highlight that a time window exists within which axons must grow through the distal nerve stump in order for recovery after nerve lesions to be optimal. Future work should focus on interventions that may accelerate the growth of axons from the lesion site into the distal nerve stump.