bluuebunny/crossref_metadata_2025_split huggingface dataset:
A common mutation in the gene for coagulation factor XIII‐A (VAL34Leu): A risk factor for primary intracerebral hemorrhage is protective against atherothrombotic diseases
Authors: Gemmati Donato , Serino Maria L. , Ongaro Alessia , Tognazzo Silvia , Moratelli Stefano , Resca Riccardo , Moretti Mauro , Scapoli Gian L. 
Published: August 2002

AbstractThe role of a common polymorphism in the factor XIII A‐subunit gene (FXIII Val34Leu) has been recently investigated as a protective genetic factor against arterial and venous thrombosis. In addition, the less frequent Leu34 allele has been described as a risk factor for intracerebral hemorrhage. We evaluated the prevalence of this polymorphism by PCR in three case‐control studies of patients diagnosed as having primary intracerebral hemorrhage (PCH, n = 130), coronary heart diseases (CHD, n = 240; myocardial infarction/no myocardial infarction, 120/120), and cerebrovascular diseases (CVD, n = 240; cerebral infarction/transient ischaemic attack, 120/120). The matched control groups consisted of patients admitted to the hospital without history of vascular disease. In addition, 200 healthy subjects were investigated. The frequency of the mutated allele (Leu34) was higher in patients with PCH than in controls (33.8% vs. 23.1%, P = 0.009) and lower in CHD and CVD patients compared to controls (18.1% vs. 25.2%, P = 0.010 and 17.3% vs. 24.2%, P = 0.011, respectively). Moreover, among the patients with CHD, the Leu34 allele was underrepresented in cases with myocardial infarction than without (12.9% vs. 23.3%, P = 0.004) and than in controls (12.9% vs. 25.2%, P < 0.001). Similar findings were obtained in patients with CVD comparing the cases with cerebral infarction versus cases with transient ischaemic attack (12.5% vs. 22.1%, P = 0.008) and versus controls (12.5% vs. 24.2%, P < 0.001). Finally, considering altogether the groups of ischaemic patients (CHD and CVD, n = 480), it was noted a trend towards a higher mean age of the clinical onset in homozygotes for the Leu allele than in the wild types (P = 0.078). This study indicates that in our population possession of the FXIII Val34Leu mutation predisposes to the occurrence of primary intracerebral hemorrhage and protects against cerebral and myocardial infarction. A wider modulatory role in the progression and onset of atherothrombotic diseases could be ascribed to FXIII Val34Leu. Am. J. Hematol. 67:183–188, 2001. © 2001 Wiley‐Liss, Inc.
Antiquity of postreproductive life: Are there modern impacts on hunter‐gatherer postreproductive life spans?
Authors: Blurton Jones Nicholas G. , Hawkes Kristen , O'Connell James F. 
Published: August 2002

AbstractFemale postreproductive life is a striking feature of human life history and there have been several recent attempts to account for its evolution. But archaeologists estimate that in the past, few individuals lived many postreproductive years. Is postreproductive life a phenotypic outcome of modern conditions, needing no evolutionary account? This article assesses effects of the modern world on hunter‐gatherer adult mortality, with special reference to the Hadza. Evidence suggests that such effects are not sufficient to deny the existence of substantial life expectancy at the end of the childbearing career. Data from contemporary hunter‐gatherers (Ache, !Kung, Hadza) match longevity extrapolated from regressions of lifespan on body and brain weight. Twenty or so vigorous years between the end of reproduction and the onset of significant senescence does require an explanation. Am. J. Hum. Biol. 14:184–205, 2002. © 2002 Wiley‐Liss, Inc.
Anger expression, body fat, and blood pressure in adolescents: Project HeartBeat!
Authors: Mueller William H. , Grunbaum Jo Anne , Labarthe Darwin R. 
Published: August 2002

AbstractThis study explores the potential influence of growth, body/composition, and sexual maturity on the relation of anger expression and blood pressure in adolescents. Baseline data from Project HeartBeat! (82 boys and 85 girls, 14 years of age) examined the ability of anger expression (STAXI scale) to predict blood pressure, after controlling for the effects of ethnicity (African‐American/non‐African‐American), height, weight, percentage body fat, and sexual maturity. Blood pressures were unrelated to anger expression in models that included the above developmental variables. However, girls scoring high on healthy anger expression (“anger‐control”) had significantly lower levels of percentage body fat (P = 0.015) independent of the above factors. The literature suggests that body fat or body mass is often, though not unanimously, associated with unhealthy forms of anger expression in adolescents. Research is required into the biological, social, and behavioral origins of the association between body fat and anger expression. Height and sexual maturity, virtually ignored in this literature, should be included in future research. Am. J. Hum. Biol. 13:531–538, 2001. © 2001 Wiley‐Liss, Inc.
Compliance with required pesticide‐specific protective equipment use
Authors: Perry Melissa J. , Marbella Anne , Layde Peter M. 
Published: August 2002

AbstractBackgroundThis study measured compliance with pesticide‐specific protective gear use requirements practiced by farmers applying pesticides to field crops.Materials and MethodsTwo hundred and twenty randomly selected dairy farmers were interviewed 1 week after pesticide application to determine use of personal protective equipment while applying at least 1 of 15 possible restricted use pesticides (response rate = 82.4%).ResultsAmong the three most common pesticides used (dicamba, atrazine, and cyanazine), the proportions of farmers fully complying with gear use requirements were 8.8, 8.6, and 2.5%, respectively. For those same pesticides, the proportions (and 95% CI) using none of the required gear were 56.9% (47.3–66.5%), 38.6% (27.2–50.0%), and 47.5%(32.0–63.0%), respectively.ConclusionsBoth full and partial compliance with required personal protective equipment was low for each of the 15 chemicals applied by the applicators in this sample. Am. J. Ind. Med. 41:70–73, 2002. © 2002 Wiley‐Liss, Inc.
Grouping participants for tailored work‐site weight loss programs: A signal detection approach
Authors: Hagihara Akihito , Tarumi Kimio , Nobutomo Koichi 
Published: August 2002

AbstractBackgroundAlthough work‐site obesity prevention programs have been widely promoted, they have a high rate of attrition and participants find it very difficult to maintain the decreased weight. It is necessary to develop effective work‐site programs that match the type of intervention to the participants and offer the necessary support. To this end, higher‐order interaction of the causal factors of obesity needs to be analyzed.MethodsThe subjects were male, white‐collar workers (20–64 years of age), in Osaka, Japan. Since conventional methods, such as regression analysis or analysis of variance, cannot deal with the interaction of many variables, signal detection analysis by Kraemer was used to identify the higher‐order interaction of multiple predictors of obesity.ResultsOut of 15 independent variables, a higher‐order interaction consisting of 8 significant variables was identified. Consequently, the subjects were categorized into nine subgroups. It was revealed that the obesity of two groups of workers, 40 or more years old with a high degree of obesity, had different causes: one was related to working conditions, and one was related to smoking cessation. For the other terminal groups, further factors related to obesity were revealed.ConclusionAlthough the applicability of the findings is limited, the methodology using signal detection analysis might be applicable to other weight loss programs as a way of facilitating the matching of the type of intervention and the target group. Am. J. Ind. Med. 41:269–278, 2002. © 2002 Wiley‐Liss, Inc.
Psychosocial job factors and return‐to‐work after compensated low back injury: A disability phase‐specific analysis
Authors: Krause Niklas , Dasinger Lisa K. , Deegan Leo J. , Rudolph Linda , Brand Richard J. 
Published: August 2002

AbstractBackgroundJob characteristics may constitute a barrier to return‐to‐work (RTW) after compensated disabling low back pain (LBP). This study examines the impact of psychosocial job factors on time to RTW separately during the acute and subacute/chronic disability phases.MethodsThis is a retrospective cohort study of 433 LBP workers' compensation claimants with 1–4 years of follow‐up. The association of psychosocial job factors with duration of work disability was estimated with Cox regression models, adjusting for injury history and severity, physical workload, and demographic and employment factors.ResultsHigh physical and psychological job demands and low supervisory support are each associated with about 20% lower RTW rates during all disability phases. High job control, especially control over work and rest periods, is associated with over 30% higher RTW rates, but only during the subacute/chronic disability phase starting 30 days after injury. Job satisfaction and coworker support are unrelated to time to RTW.ConclusionsDuration of work disability is associated with psychosocial job factors independent of injury severity and physical workload. The impact of these risk factors changes significantly over the course of disability. Am. J. Ind. Med. 40:374–392, 2001. © 2001 Wiley‐Liss, Inc.
Association between the COMT locus and obsessive‐compulsive disorder in females but not males
Authors: Alsobrook John P. , Zohar Ada H. , Leboyer Marion , Chabane Nadia , Ebstein Richard P. , Pauls David L. 
Published: August 2002

AbstractA polymorphism in the coding region of catechol‐O‐methyltransferase gene (COMT) was previously reported to be associated with obsessive‐compulsive disorder (OCD), particularly in male probands. We attempted to replicate the previous finding using a family‐based genetic design in haplotype relative risk (HRR) and transmission disequilibrium (TDT) analyses. Fifty‐six OCD probands and their parents were genotyped for the COMT locus using established methods. Analysis of allele and genotype frequencies between the proband genotypes and the control (parental nontransmitted) genotypes failed to replicate the previous finding of gender divergence, gave no evidence of overall association, nor was linkage detected by TDT. However, further analysis of the COMT allele frequencies by proband gender gave evidence of a mildly significant association with the low‐activity COMT allele in female probands (P = 0.049), but not in male probands. These findings indicate that COMT may be etiologically relevant to OCD in a gender‐specific manner opposite to that shown in previous studies. © 2001 Wiley‐Liss, Inc.
Genetic association mapping at the crossroads: Which test and why? Overview and practical guidelines
Authors: Schulze Thomas G. , McMahon Francis J. 
Published: August 2002

AbstractUntil about a decade ago, genetic association testing essentially meant case control association analysis using genetic markers. Concerns about population stratification propelled family‐based tests of association into widespread use and challenged the classic case control design. The literature now contains a vast collection of different family‐based methods, most of which are based on the transmission/disequilibrium test (TDT). Some methods extend the original TDT to accommodate multiallelic markers, variable pedigree constellations, multiple loci, etc. Other methods go beyond the original design of the TDT to detect genetic association via haplotype sharing. Most recently, we have witnessed a revival of case control methods that control for population stratification. The purpose of this review is to help orient readers to the rapidly developing methods of association testing and enhance their understanding of the basic principles of these approaches. We present an overview of the development of genetic association tests, with practical guidelines on which test might be the most suitable for a given study. © 2001 Wiley‐Liss, Inc.
MTRR and MTHFR polymorphism: Link to Down syndrome?
Authors: O'Leary Valerie B. , Parle‐McDermott Anne , Molloy Anne M. , Kirke Peadar N. , Johnson Zachary , Conley Mary , Scott John M. , Mills James L. 
Published: August 2002

AbstractPolymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. We examined the prevalence of these variant genotypes in mothers who had given birth to a child with Down syndrome (n = 48) and in control mothers (n = 192), and investigated the biochemical factors influenced by the presence of MTRR A66G and MTHFR C677T. The frequency of the MTRR variant genotypes (AG, GG) was significantly higher in mothers of children with Down syndrome compared to controls (P = 0.0028). MTHFR C677T genotype frequencies were not significantly altered in mothers of children with Down syndrome (P = 0.74). However, mothers who had a MTHFR CT or TT genotype and a MTRR GG genotype had a 2.98‐fold increased risk of having a child with Down syndrome (P = 0.02). The MTRR polymorphism did not increase plasma homocysteine. Higher homocysteine was found with the presence of the MTHFR T allele. In conclusion, MTRR A66G is significantly more common in mothers of children with Down syndrome but does not appear to increase the risk for Down syndrome by changing homocysteine metabolism. Women who have both the MTRR and MTHFR variant genotypes are also at increased risk of producing offspring with Down syndrome. Published 2001 Wiley‐Liss, Inc.
Idiopathic congenital central hypoventilation syndrome: Evaluation of brain‐derived neurotrophic factor genomic DNA sequence variation
Authors: Weese‐Mayer Debra E. , Bolk Stacey , Silvestri Jean M. , Chakravarti Aravinda 
Published: August 2002

AbstractIdiopathic congenital central hypoventilation syndrome (CCHS) is an unique disorder of respiratory control, occurring in association with Hirschsprung disease (HSCR), tumors of neural crest origin, and symptoms of autonomic nervous system dysfunction (ANSD). CCHS is thought to be genetic in origin based upon 1) affected sib pairs, 2) genetic analysis, and 3) identification of genetic mutations in both HSCR and CCHS patients. Because these mutations have been found in but a few cases of CCHS, exploration of other candidate genes has continued. Brain‐derived neurotrophic factor (BDNF) represents a potential candidate gene to consider because of altered respiratory control in the BDNF knock‐out mouse model and localization to the enteric nervous system in human tissue. The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls. Using the known genomic DNA sequence for BDNF, polymerase chain reaction (PCR)‐amplified genomic DNA was analyzed by standard sequencing methods. A discrete mutation was identified in one of 19 children with isolated CCHS and the unaffected father. Specifically, an isoleucine was substituted for a threonine or serine in the amino acid sequence. Absence of this mutation in 40 controls confirmed that this mutation was likely not a common polymorphism. These data further support a genetic basis for CCHS, though mutations of BDNF are not consistent in this disorder. © 2001 Wiley‐Liss, Inc.
Vascular birthmarks of infancy: Resolving nosologic confusion
Authors: Hand Jennifer L. , Frieden Ilona J. 
Published: August 2002

AbstractThe terminology describing congenital vascular birthmarks has been a source of confusion in the medical literature. Mulliken and Glowacki [1982: Plas Recons Surg 69:412–422] published a biologic classification system which has become the most widely accepted framework for classifying vascular birthmarks and is accepted as the official classification schema by the International Society for the Study of Vascular Anomalies (ISSVA). In this study, we evaluate the current nosology of vascular birthmarks used in standard medical genetics reference texts compared with the accepted Mulliken ISSVA framework. In five sources examined, a variety of terms were used to describe congenital vascular anomalies. The degree of agreement with accepted ISSVA classification varied both within and among texts, with agreement as low as 22% and as high as 75%. In all texts, hemangioma was the most commonly used term, appearing 79 times. Use of the term “hemangioma” had the lowest rate of agreement with the ISSVA classification criteria, with agreement in 23% of citations. The terms “vascular malformation” and “port‐wine stain” were used less frequently, but with a much higher degree of agreement with the ISSVA classification: 82% and 66%, respectively. These results establish that nosologic confusion is widespread even in standard genetic reference texts. In particular, the term “hemangioma” is used imprecisely. The ISSVA classification system provides an extremely useful framework for geneticists to classify vascular birthmarks in their evaluation of infants and children with vascular anomalies in order to provide more accurate evaluation, prognosis, and genetic counseling. © 2002 Wiley‐Liss, Inc.
Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol
Authors: Gripp Karen W. , Scott Charles I. , Nicholson Linda , McDonald‐McGinn Donna M. , Ozeran J. Daniel , Jones Marilyn C. , Lin Angela E. , Zackai Elaine H. 
Published: August 2002

AbstractWe report five new cases of rhabdomyosarcoma (RMS) in Costello syndrome. These cases, combined with those previously reported, increase the number of solid tumors to 17 (10 RMSs, 3 neuroblastomas, 2 bladder carcinomas, 1 vestibular schwannoma, 1 epithelioma), in at least 100 known Costello syndrome patients. Despite possible ascertainment bias, and the incomplete identification of all Costello syndrome patients, the tumor frequency could be as high as 17%. This is comparable to the 7–21% frequency of solid tumors in Beckwith‐Wiedemann syndrome (BWS), and may justify tumor screening. Based on the recommendations for screening BWS patients, we propose a screening protocol consisting of ultrasound examination of the abdomen and pelvis every 3–6 months until age 8–10 years for RMS and abdominal neuroblastoma; urine catecholamine metabolite analysis every 6–12 months until age 5 years for neuroblastoma; and urinalysis for hematuria annually for bladder carcinoma after age 10 years. These recommendations may need to be modified, as new information becomes available. Potential criticism of the tumor screening protocol concerns the lack of evidence for improved outcome, and possible overestimation of the tumor risk. The ability of RMSs to occur at various sites complicates tumor screening, but 8 of the 10 RMSs in Costello syndrome patients originated from the abdomen, pelvis and urogenital area. Prior diagnosis of Costello syndrome is a prerequisite for the implementation of any screening protocol. The diagnosis of Costello syndrome should also be considered in individuals with RMS and physical findings suggestive of Costello syndrome. © 2002 Wiley‐Liss, Inc.
Scalp defects, polythelia, microcephaly, and developmental delay: A New syndrome with apparent autosomal dominant inheritance
Authors: Marble Michael , Pridjian Gabriella 
Published: August 2002

AbstractWe report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome. © 2002 Wiley‐Liss, Inc.
Lack of association of dopamine D4 receptor gene polymorphisms with ADHD subtypes in a population sample of twins
Authors: Todd Richard D. , Neuman Rosalind J. , Lobos Elizabeth A. , Jong Yuh‐Jiin I. , Reich Wendy , Heath Andrew C. 
Published: August 2002

AbstractAttention‐deficit hyperactivity disorder (ADHD) is a common, highly heritable syndrome of childhood characterized by problems with inattention, hyperactivity, and impulsivity. A variety of case control and family‐based transmission distortion genetic studies of ADHD have focused on the possible involvement of polymorphisms of the DRD4 receptor gene. The majority of studies have examined the association of variously defined ADHD with an exon 3 polymorphism containing a variable number of imperfect 48 base pair repeats. Recently, McCracken et al. [2000: Mol Psych 5:531–536] reported an association of the DSM‐IV primarily inattentive ADHD subtype with a 5′ 120 base pair repeat polymorphism in the DRD4 gene. In this report, we test for the possible association of these two polymorphisms with population‐derived samples of DSM‐IV ADHD subtypes. Furthermore, we extend previous studies by testing for associations with ADHD subtypes derived from latent‐class analysis of interview responses. In contrast to most, but not all, previous studies, we failed to demonstrate any significant association of the exon 3 7‐repeat allele with ADHD. Nor did we replicate the association of the 5′120 base pair repeat polymorphism. We do find a significant association of the exon 3 3‐repeat allele with a novel talkative/impulsive latent‐class–defined subtype of ADHD. © 2001 Wiley‐Liss, Inc.
Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism
Authors: Plank Sara M. , Copeland‐Yates Susan A. , Sossey‐Alaoui Khalid , Bell Jennifer M. , Schroer Richard J. , Skinner Cindy , Michaelis Ron C. 
Published: August 2002

AbstractA novel allele of the GXAlu tetranucleotide repeat in intron 27b of the neurofibromatosis 1 (NF1) gene has recently been reported to be present in 4.7% of autistic patients but not in controls. We have found the novel GXAlu allele absent in 204 patients from the South Carolina Autism Project and 200 controls. The autism population studied includes a significant number of patients with hypotonia, stereotyped behaviors, or postural, gait, and motor abnormalities similar to those seen in the patients previously reported to possess the novel GXAlu allele. This suggests that the novel (AAAT)6 GXAlu allele is not associated with autism. © 2001 Wiley‐Liss, Inc.
Evolution of two human skeletal markers of the squatting position: A diachronic study from antiquity to the modern age
Authors: Boulle Eve‐Line 
Published: August 2002

AbstractSome human skeletal features that were produced through the actions of their bearers during life allow the reconstruction of postures. These can be typical of population groups. For example, tibial retroversion and lateral squatting facets are two skeletal markers closely related to the habit of squatting. The facets and the retroversion are induced by pressure and traction as a consequence of the hyperdorsiflexion of the knees and ankles. The examination of 543 tibiae and tali from French and American archaeological series, and dating between the 1st–20th century AD, reveals changes in squatting posture over time. This study shows that tibial retroversion tends to be a “precocity indicator” of the adoption of this posture, while the lateral squatting facet shows the intensity or regularity of the use of this posture. The results indicate that squatting was a regular behavior used until the end of the Middle Ages, and after this period a progressive decrease occurs. This tendency may be explained by different lifestyles in different time periods. Am J Phys Anthropol 115:50–56, 2001. © 2001 Wiley‐Liss, Inc.