bluuebunny/crossref_metadata_2025 huggingface dataset:
Differential Effects of Pharmacological Doses of Melatonin on Malondialdehyde and Glutathione Levels in Young and Old Rats
Authors: Akbulut K. Gonca , Gönül Bilge , Akbulut Hakan
Published: April 2003

Background: The free radical theory of aging suggests the oxygen-derived species as the causative agents and free radical scavengers as the defense systems in aging process. The exact role of the free radical scavenging effects of melatonin in aging remains to be clarified. Objective: In this experimental study, we investigated the age-related changes of malondialdehyde (MDA), a lipid peroxidation product, and glutathione (GSH) and the effects of exogenous melatonin. Methods: Plasma, liver, and lung MDA and GSH levels of 9- and 28-month-old rats were measured. Results: Plasma, lung, and liver MDA levels of old rats were significantly higher than those of the young ones (p = 0.024, p = 0.005, and p = 0.0007, respectively). However, while the lung GSH levels were found to be significantly decreased in the control group of old rats as compared with young ones (p = 0.005), the liver GSH levels were unchanged. Plasma MDA levels were found to be significantly lower in the melatonin group of old rats as compared with the control group (p = 0.020) but lung and liver MDA levels were not significantly different. There were no significant differences in the levels of measured parameters between both groups of young rats. Conclusion: Our results suggest that increased levels of lipid peroxidation products may have a role in aging, and exogenous melatonin may delay the aging process of tissues by means of its free radical scavenging effects.
Do All Systems Age Together?
Authors: AihieSayer A. , Osmond C. , Briggs R. , Cooper C.
Published: April 2003

Background: Aging changes in different body system are well described, but few studies have considered the relationship between them. Objective: The purpose of this study was, therefore, to investigate the interrelationships between markers of aging in different parts of the body. Methods: A cross-sectional study design was used. Structural and functional markers of aging were measured in a number of different body systems. Results: Conditional independence analysis demonstrated that the aging markers selected clustered into two groups, either related to chronological age or adult height. Visual acuity, lens opacity, hearing threshold, cognitive decline, and the number of teeth were associated with age, while systolic blood pressure and skin thickness were related to height. Grip strength was associated with both. Conclusions: The differential associations of the aging markers with chronological age and adult height suggest that different systems do not age together. This may have relevance for understanding what underlies aging, and these preliminary findings now require replication in other aging cohorts.
Cognitive Impairment among Elderly Coronary Heart Disease Patients
Authors: Ahto Merja , Isoaho Raimo , Puolijoki Hannu , Laippala Pekka , Sulkava Raimo , Kivelä Sirkka-Liisa
Published: April 2003

Background: Coronary heart disease (CHD) and decline in cognitive functioning and dementia are common problems in the elderly. Cardiovascular diseases (CVDs) are connected with vascular dementia, but less is known about cognitive functioning among elderly patients with CHD based on population studies. Objective: To describe the associations between CHD and cognitive impairment among the elderly. Population and Methods: Of the total population of the Lieto study (488 community-dwelling men and 708 women, ≥64 years old), the ambulatory patients with CHD (89 men and 73 women) and sex- and age-matched controls without any sign of CHD (178 men and 146 women) were selected to make up the study population. CHD was defined as the presence of angina pectoris or a past myocardial infarction. Cognitive assessment was based on the Mini-Mental State Examination (MMSE). Results: The total MMSE scores, the MMSE subtest scores and the overall test-based cognitive functioning did not differ between patients and controls. Among men, higher MMSE subscores in orientation and language were related to more severe chest pain. According to logistic regression analyses, the cognitive impairment of men was associated with high age, the use of cardiac glycosides and physical disability. Among women, cognitive impairment was associated with high age and the use of antipsychotics. Conclusion: In general, CHD has no independent association with cognitive impairment among the non-institutionalized community-living elderly. Among men, however, a complicated CHD may negatively affect cognitive functioning.
Tests Used to Assess the Cognitive Abilities of Aged Rats: Their Relation to Each Other and to Hippocampal Morphology and Neurotrophin Expression
Authors: McLay RobertN. , Freeman ScottM. , Harlan RichardE. , Kastin AbbaJ. , Zadina JamesE.
Published: April 2003

Background: Aged rodents have proven to be a useful tool in studying age-related cognitive decline, particularly with regard to hippocampal function. A number of maze tests have been developed to evaluate hippocampal function in aged rodents, including the eight-arm radial maze, Barnes circular platform maze and Morris water maze. To some extent, these mazes have been used interchangeably to evaluate aged animals. Few researchers, however, have examined how performance of individual, aged animals compares in these three mazes. Objective: The purpose of this study was to compare the performances in the three mazes and to examine how such performances are related to each other, to hippocampal morphology and to neurotrophin gene expression. Methods: We screened groups of young and old Fisher 344 × Brown Norway rats for general health and physical abilities, tested the animals in the three mazes and examined correlations among performances in the mazes and in screening tests. Hippocampal neuron density and expression of hippocampal neurotrophin mRNAs were also examined and compared with behavior in the three mazes. Results: Aged animals were found to be impaired in all three mazes and to have lower hippocampal neuron densities compared with young animals, with poor learning behavior significantly correlating with reduced hippocampal neuron density. Differences were observed between performance in the different mazes, but in general the Morris water maze and Barnes circular platform maze were found to give similar results.
Influence of Age on the Clinical Presentation of Prolactinomas in Male Patients
Authors: Delgrange Etienne , Maiter Dominique , Donckier Julian , Tourniaire Jacques
Published: April 2003

Objective: Secreting pituitary adenomas are usually not considered a disease of older people. However, in male patients, prolactin-secreting pituitary tumours occur at a similar frequency throughout the entire life span, giving the opportunity to study in this gender the influence of age on the clinical presentation and response to treatment of these tumours. Methods: We conducted a retrospective study including 9 male patients aged ≥60 (range 60–73) years and 10 aged ≤30 (range 17–30) years presenting with a prolactinoma in order to compare clinical presentation, results of pituitary function tests, and response to dopamine agonist therapy between older and younger patients. Results: Four of the 9 elderly as well as the 10 younger patients came to medical attention for typical features of male prolactinomas including visual field defect in 5 (2 elderly), headaches in 2 (1 elderly), impotence in 3 (1 elderly), gynaecomastia and/or galactorrhoea in 2, and arrested puberty in 2. The remaining 5 older people presented for other various reasons: symptoms related to cortisol deficiency in 2, lethargy with clinical signs of hypopituitarism in 1, spontaneous multiple vertebral fractures in 1, and incidental discovery of a pituitary mass in 1. Basal prolactin levels (3,051±4,151 vs. 3,365 ± 4,949 µg/l) and mean tumour diameter (30 ± 16 vs. 25 ± 13 mm) were similar in old and young patients. Cortisol deficiency was significantly more frequent in the elderly (n = 6) than in the young (n = 1) patients (p 0.02, Fisher’s exact test). Secondary hypothyroidism was found in 2 elderly only, but not in young patients. Sixteen patients (8 elderly) received bromocriptine therapy for at least 6 months with a good tolerance. Normalization of the prolactin levels was achieved in 6 older (75%) and 4 younger patients (50%). Conclusions: The presentation of a prolactinoma in the elderly man is very heterogeneous and can be misleading. At the time of diagnosis, hypopituitarism is more frequent among older than younger patients despite a similar tumour size. We found dopamine agonists equally effective in the elderly.
Screening for Diseases in Elderly Persons: The Correlation between Physical Checkup Findings and Chief Complaints
Authors: Cheung Bruno M.H. , Jeng Kee-Ching G. , Lau Yeu-Jun
Published: April 2003

Background: The effectiveness of a physical checkup program for screening for diseases in the elderly, in terms of correlation with their chief complaints has not been previously evaluated. Objective and Methods: The study was to examine the correlation between physical checkup findings and chief complaints of elderly people. Study subjects were over 65 years of age. There were 792 males and 373 females. They all attended a 2-day physical checkup program at Taichung Veterans General Hospital from January 1, 1994, to December 31, 1995. Results: The results showed a significant difference (p < 0.05) between male (12.0%) and female (16.8%) subjects in the relationship of clinical findings to chief complaints. When the locations of chief complaints were compared, those concerning the neck and the limbs corresponded well to our clinical findings. However, there were differences between female and male subjects (42.4 and 24.4%, respectively; p < 0.01) in this aspect. There was a good relationship (p < 0.05) between physical checkup findings and complaints of lower back pain (75.2%), upper abdominal pain (46.2%) and knee joint pain (38.3%). However, we found that 43.7% of physical checkup findings were not linked to chief complaints. Conclusions: The results suggest that additional appropriate clinical tests may improve the effectiveness of physical checkups and thus result in health benefits for elderly persons.
Influence of Age on Regeneration in the Peripheral Nervous System
Authors: Kerezoudi E. , Thomas P.K.
Published: April 2003

Studies on the influence of age on regeneration in the peripheral nervous system are reviewed. Observations in the human are limited, but clinical experience indicates that the efficiency of regeneration is less in later life. The results of experimental studies in animals, although sometimes variable, indicate a decline with age. This may be correlated with reduced axonal transport. At motor nerve terminals, the capacity to produce ultraterminal sprouting secondary to partial denervation is reduced, but not the capacity to eliminate terminal sprouts or reinnervation. Frequency and accuracy of reoccupation of the sites of motor nerve terminals are impaired. Nerve transection is more likely to result in loss of the parent neurons following nerve transection in young than in older animals. Chromatolysis is more intense and does not return to normal as rapidly in old animals, and the degree of retrograde axonal atrophy is less. This suggests a diminished dependence on peripheral growth factor support.
Relationship between Left Ventricular Geometry and Brain Natriuretic Peptide Levels in Elderly Subjects
Authors: Sayama Harumi , Nakamura Yasuyuki , Saito Noboru , Kinoshita Masahiko , Suda Makio
Published: April 2003

Background: The plasma brain natriuretic peptide (BNP) level in elderly patients is elevated, but the mechanism of this increase is not clear. Objective: To examine the relationship between left ventricular geometry and BNP levels in elderly subjects. Methods: We investigated the effects of left ventricular (LV) geometry on plasma BNP levels by measuring these levels in elderly patients with or without LV hypertrophy. Patients were classified into 4 groups based on echocardiographic data: normal geometry; concentric remodeling; eccentric hypertrophy (EH), and concentric hypertrophy (CH). The samples were analyzed for BNP and endothelin-1 (ET-1). Results: Among the 4 groups, there were no differences in plasma ET-1 levels, ejection fraction, percent fractional shortening, or indices of diastolic function. Plasma BNP levels in EH and CH were higher than those in the normal geometry and concentric remodeling groups. There was a good correlation between plasma BNP levels and the relative wall thickness in EH, and between plasma BNP levels and the posterior wall thickness in CH (r = –0.474, r = 0.396, respectively, both p < 0.05). There were also good correlations between plasma BNP levels and LV mass index (LVMI). A stepwise multiple regression analysis showed that age and LVMI were significant independent contributors to plasma BNP levels. Conclusions: These results suggest that aging, increased wall stress and the extent of cardiac hypertrophy contribute to elevated BNP levels in the elderly.
Natural Death
Authors: Oehmichen Manfred , Meissner Christoph
Published: April 2003

Background: The increasing age of every human being is the beginning of the end of life, an obviously natural process, but any attempt to define the term ‘natural death’ soon encounters difficulties in defining what is meant by ‘natural’. In the industrialized countries of the West, for example ‘natural death’ is thought of as the opposite of non-natural types of death such as accidental death, suicide, and homicide. Objective: The aim of our present survey is to discuss the meaning of the term ‘natural death’ under a clinical, a forensic and a scientific point of view with regard to recent developments especially in molecular biology. Conclusion: If there are ‘external’ physical influences, a medical-technical manipulation, a therapeutic or molecular biological intervention cannot be definitely ruled out as the cause of death, then use of the term ‘natural death’ in general is open to question. It will only remain meaningful if it can be applied with a specific meaning in definite practical situations. Current research and medical technology, however, do not allow use of the term ‘natural death’ in its conventional sense: it can thus be stricken from the medical vocabulary.
Health and Relicensing Policies for Older Drivers in the European Union
Authors: White Susan , O’Neill Desmond
Published: April 2003

Background: The number of older drivers is increasing rapidly in the developed world. Many states of the European Union (EU) have initiated legislation to screen older drivers for age-related disease, despite evidence that screening may be harmful or have no positive effect. Methods: We reviewed the current situation in the EU by sending a questionnaire to the Driver and Vehicle Licensing Agency in each member state. Results: All fifteen countries replied. Regular medical screening occurs in ten. European Council Directive 91/439/EEC forms the basis for national guidelines on medical fitness to drive, but these are not specific for age-related illness, and interpretation of the directive varies between countries. Specific guidelines are not available in all countries for the age-related conditions of dementia, stroke, and Parkinson’s disease. In nine countries a medical colleague is available for consultation in difficult cases. Drivers are required to report illness to the Driver and Vehicle Licensing Agency only in the United Kingdom. In six countries, there is mandatory reporting by physicians of conditions which may pose a risk to driving. Conclusions: There is considerable heterogeneity within the EU on the processes of older driver screening. This diversity may facilitate research into the effect of different policies on safe mobility of older people. If changes in the screening process are considered, further knowledge is needed on issues such as older driver exposure and valid measures of safe mobility for the EU. More evidence-based research is required to help policy makers frame future guidelines and legislation, so as to promote safe mobility of older people.
Is Depression a Risk Factor for Dementia or Cognitive Decline?
Authors: Jorm A.F.
Published: April 2003

Background: It is generally accepted that depression can be associated with significant cognitive deficits and that depression can be comorbid with dementia. Objective: This review seeks to go further and ask whether depression earlier in life can be a risk factor for subsequent dementia or for cognitive decline. Methods: A review was made of the epidemiological evidence from case-control and prospective studies that depression is a risk factor. The literature was also reviewed in relation to six hypotheses that might explain an association: (1) depression treatments are a risk factor for dementia, (2) dementia and depression share common risk factors, (3) depression is a prodrome of dementia, (4) depression is an early reaction to cognitive decline, (5) depression affects the threshold for manifesting dementia, and (6) depression is a causal factor in dementia. Results: A meta-analysis found that depression was associated with an increased risk of subsequent dementia in both case-control studies (95% CI for relative risk: 1.16–3.50) and prospective studies (95% CI: 1.08–3.20). There was little support for hypotheses 1 and 2. The other hypotheses have limited support, but warrant further research. Conclusion: There is sufficient evidence to take seriously the possibility that depression is a risk factor for dementia and cognitive decline. Further work is needed to examine depression as a prodrome of vascular dementia, depression as an early reaction to perceived cognitive decline, the effects of depression on the threshold for manifesting dementia, and depression as a source of hippocampal damage through a glucocorticoid cascade.
Influence of Cognitive Status on the Sexual Life of 352 Elderly Italians Aged 65–105 Years
Authors: Padoani W. , Dello Buono M. , Marietta P. , Scocco P. , Zaghi P.C. , De Leo D.
Published: April 2003

Background: Various factors are considered to influence sexual behavior in the elderly, but the role played by preservation of adequate cognitive functioning has not been adequately explored. Objective: The aim of this research, conducted on 352 older adults aged between 65 and 105 years, was to identify the specific role played by cognitive functioning in sexual activity and sexual interest in the elderly. Methods: The data were collected from elderly people attending the surgeries of 21 general practitioners in the city of Padua (Italy). Analysis of sexual functioning was based on two items, from the LEIPAD questionnaire: ‘Are you interested in sex?’ and ‘Do you have sexual relations?’. Subjects cognitive status was assessed objectively through the Mini Mental State Examination (MMSE) and subjectively by the LEIPAD subscale on cognitive functioning. Results: Subjects who were sexually active and interested in sex were more highly represented among the married elderly. The elderly who reported being active and interested in sex were significantly younger and had a significantly superior educational level and MMSE score. Mean scores for cognitive functioning and all quality-of-life indicators were in general significantly better for the active and interested. Univariate logistic regression analysis indicated that a higher MMSE score and cognitive functioning score influenced the maintenance of sexual interest. Conclusions: One third of the subjects reported being still sexually active and 40% being still interested in sex. This study seems to suggest that a significant role may be played by cognitive functioning in the maintenance of sexual interest in the elderly, especially older females in whom this dimension is evidently linked to far more diversified experiences than their male peers.
Are Changes in Sensory Disability, Reaction Time, and Grip Strength Associated with Changes in Memory and Crystallized Intelligence?
Authors: Christensen H. , Korten A.E. , Mackinnon A.J. , Jorm A.F. , Henderson A.S. , Rodgers B.
Published: April 2003

Background: Little is known about predictors of cognitive changes in the elderly. Sensory disability, grip strength, and speed of processing have been established as associates of cognitive performance in cross-sectional studies. However, it is not known whether changes in these predictor variables are associated with changes in cognitive functioning. Objectives: (1) to examine the relationship between initial level of three predictor variables – speed of processing, sensory disability, and grip strength – and changes in memory and crystallized intelligence (CIQ); (2) to examine the relationships between change in grip strength, cognitive speed, and sensory disability and changes in memory and CIQ, and (3) to investigate these relationships with the effects of age and sex statistically removed. Methods: Cognitive ability was assessed in two domains: CIQ (3 tests) and memory (3 tests) measured on two occasions approximately three and a half years apart in a large community sample (n = 425; mean age = 75.8, range 70–93 years). Repeated-measures Anova was used to analyze descriptive data. Latent-change models were used to examine structural relationships between constructs. Results: Initial levels of reaction time or grip strength did not predict rate of change on memory tasks. Changes in grip strength, speed, and memory correlated moderately, suggesting that these variables have some tendency to move together over time. Sensory disability correlated with age but not with change in speed, grip, memory, or CIQ. These relationships held across the age range studied after adjustment for age and sex. Conclusions: The findings are consistent with the action of a common causal mechanism underlying changes in speed, grip, and memory. A number of methodological caveats arise from our analysis. Cross-sectional and longitudinal data sets yield different interpretations about the basic component associates of cognitive performance.
Visual Contributions to Postural Stability in Older Adults
Authors: Lord Stephen R. , Menz Hylton B.
Published: April 2003

Background: With advancing age, there is a generalized reduction in visual functioning which has been associated with impaired postural stability and increased risk of falls. However, little is known about which visual abilities are the most important in the control of postural sway when standing. Objective: To determine whether specific visual abilities predict stability when standing on firm and compliant surfaces. Methods: Tests of visual function, peripheral sensation, strength, reaction time and sway were administered to 156 community-dwelling men and women aged 63–90 years. The visual tests included high- and low-contrast visual acuity, contrast sensitivity, depth perception, stereopsis and lower visual field size. Postural sway was measured with eyes open on a firm and a compliant foam rubber surface. Results: On the firm surface, sway was significantly associated with only one sensorimotor measure: proprioception in the lower limbs. In contrast, on the compliant surface, sway was associated with all of the visual measures, quadriceps strength and reaction time. Multiple regression analysis revealed that contrast sensitivity, stereopsis and quadriceps strength were significant independent predictors of total sway when subjects stood on the compliant surface. Conclusion: The study findings confirm the importance of vision, in particular contrast sensitivity and stereopsis, in the control of posture under challenging conditions, and suggest some mechanisms for the association between impaired vision and falls in older people.
Prevalence and Survival of Myelodysplastic Syndrome of the Refractory Anemia Type in Hospitalized Cognitively Different Geriatric Patients
Authors: Beloosesky Yichayaou , Cohen Amos Menahem , Grosman Boris , Grinblat Josef
Published: April 2003

Background: Myelodysplastic syndrome (MDS) is predominantly a disease of old age. The number of MDS cases diagnosed over the last 20 years has risen substantially due to increased awareness and improved geriatric care. Although MDS is increasingly diagnosed, the prevalence and prognosis of early-stage affected elderly are not completely known. Objective: To evaluate the prevalence, characteristics and prognosis of newly diagnosed MDS patients hospitalized in an acute and subacute geriatric department. Methods: Between 1993 and 1996, 3,275 patients hospitalized in the geriatric department of a teaching hospital for acute care or short-term rehabilitation were investigated for unexplained hematological abnormalities. Demographic, chronic comorbidities, cause of hospitalization, functional and cognitive status, hematological and other laboratory parameters were collected. Results: Two hundred and forty-five (7.5%) patients had unexplained cytopenia, macrocytosis or monocytosis, of whom 37 (15%) were diagnosed as having MDS. Only 9 patients were hospitalized for evaluation of anemia, 28 for infections, cardiac, cerebrovascular events and other causes. Thirty-four patients had refractory anemia (RA), two had RA with ringed sideroblasts and 1 had RA with an excess of blasts (RAEB). The follow-up period was up to 70 months. No differences were found between demented and cognitively normal patients in age, sex, comorbidities or laboratory parameters. Comparison of survival curves (excluding the RAEB case) according to demographic, clinical and hematological parameters has shown that only dementia adversely affects survival, compared to cognitively normal patients (p = 0.024). Conclusions: MDS of the RA type is a common and incidental finding in older hospitalized patients. It is a frequent cause of anemia and other hematological abnormalities but has less significance on survival rates than dementia, although its full impact remains to be determined.
Multiple Intracranial Hemorrhages at the Time of a Transiently Prolonged Activated Partial Thromboplastin Time in an Infant with Congenital Factor VII Deficiency
Authors: Erduran Erol , Mocan Hilal , Aslan Yakup , Sari Ahmet
Published: April 2003

Factor VII (FVII) deficiency is a rare autosomal recessive hereditary disorder characterized by a normal partial thromboplastin time and a prolonged prothrombin time. For definitive diagnosis, the specific FVII level should be investigated. We report on a 7-month-old boy with congenital FVII deficiency suffering from convulsions and intracerebral hemorrhage. Hematologic tests revealed prolonged prothrombin time associated with a decreased FVII level of 1.7%. Computerized tomography of the brain revealed multifocal hemorrhagic lesions. To our knowledge, multifocal intracranial hemorrhages at the time of a transiently prolonged partial thromboplastin time of unknown origin in a child with congenital FVII deficiency of about 2% has not been reported so far.
Differential Behavior of Coagulation Factor XIII in Patients with Inflammatory Bowel Disease and in Patients with Giant Cell Arteritis
Authors: Vrij Anton A. , Rijken Joop , van Wersch Jan W.J. , Stockbrügger Reinhold W.
Published: April 2003

The aim of this prospective study was to examine the role of coagulation factor XIII (FXIII) in relation to disease activity in inflammatory bowel disease (IBD) and in giant cell arteritis. Plasma FXIII activity was studied during active and inactive disease in newly diagnosed patients with Crohn’s disease (CD; n = 20), ulcerative colitis (UC; n = 18) and giant cell arteritis (GCA; n = 19), in 3-month intervals (median follow-up 12 months). FXIII was also measured in two noninflammatory control groups, age and sex matched for IBD (n = 25) and GCA (n = 26). FXIII activity was significantly lower in active CD or UC than in active GCA or the noninflammatory controls. Both in CD and UC, FXIII activity correlated inversely with indices of clinical disease activity, the erythrocyte sedimentation rate, fibrinogen and C-reactive protein levels. Low FXIII activity is a characteristic feature of active IBD, and serial measurements may be useful to assess IBD activity.
Riegel, Dialectics, and Multiculturalism
Authors: Meacham Jack
Published: April 2003

Riegel’s dialectical theory of development, which considers transactions occurring among major developmental progressions – biological, psychological, and cultural-historical – has much in common with Soviet psychology of the 1930s and 1940s, in particular with Rubinstein’s theory of constitutive relationism. Biology, the individual, history, and culture do not preexist independently of each other; instead, the nature of each is determined through its relationships with all of the others. It is in this sense that Riegel’s developmental theory, drawing upon Rubinstein’s theory of constitutive relationism, is dialectical. Riegel’s dialectical theory originated within the context of American society in the 1970s, yet continues to have relevance for our understanding of issues of multiculturalism and diversity in psychology. Ethnic and racial identities and communities need to be defined not independently but through their relationships with each other.
Nature, Nurture and the Future of the Analysis of Variance1
Authors: Vreeke G.-J.
Published: April 2003

Various studies in behavioral genetics have shown that the shared environment does not explain a large part of the variation in the behavior of children. From this finding it is concluded that the family does not have much impact on the development of children. This conclusion (and similar ones) rests on the assumption that findings concerning variation in behaviors can be translated into terms of development. However, the possibility of a translation is not self-evident, as various critics have pointed out. The assumptions on which the method is based and which yields the data of behavior genetics does not match reality, according to critics. The statistical method assumes additivity, while reality is interactive. In this paper it is argued that a translation of behavior genetic data in terms of development requires an interpretative device, which is modelled on the notion of development as a dynamic interactive process.
Infant Attachment as a Dynamic System1
Authors: Coleman Priscilla , Watson Anne
Published: April 2003

Research conducted over the last few decades has consistently highlighted the importance of the quality of infant attachment to primary caregivers in the fostering of positive child developmental outcomes both during the infancy period and beyond. However, the evidence is less conclusive regarding specification of the antecedent infant and caregiver behaviors, contextual factors, and interactive processes likely to produce optimal attachment relations. Although for many years the search for antecedents has focused primarily on caregiver sensitivity, researchers have recently recognized that attachment emerges based on a complex array of individual and environmental factors interacting in complex and often nonlinear ways. Scientific attempts to more precisely specify the origins of attachment behavior seem to have been thwarted by the limitations inherent in traditional models of development. Therefore, the purpose of this paper is to explore application of dynamic systems theory to the study of attachment relations. Attachment theory and research are reviewed initially, followed by an overview of the basic tenets of dynamic systems theory. Based on specification of the dynamic components of attachment relations and an analysis of the central tenets of the dynamic systems perspective, an effort is made to illuminate the appropriateness of a dynamic systems framework as a guide for future conceptual and empirical work in the area of attachment. Specific ideas for applying a dynamic systems methodology to the study of attachment in early childhood are provided.
Standardization of Central Off-Line Quantitative Image Analysis: Implications from Experiences with Quantitative Coronary Angiography
Authors: van Weert Anton W.M. , Lésperance Jacques , Reiber Johan H.C.
Published: April 2003

Developments in both medical equipment and software provide the opportunity to obtain more detailed, and in many instances direct digital images, i.e. not using film or video, that can be used for off-line quantitative analysis. As a result, the use of imaging data besides clinical data as a primary end point in clinical trials has nowadays become more acceptable. However, whereas clinical laboratories have been standardized worldwide according to prespecified criteria, standardization of core laboratories conducting centralized off-line quantitative analysis is still lacking. Here, we describe the procedures and guidelines to be followed to standardize off-line analysis in quantitative coronary arteriography. By using a set of standard images and phantoms, the compliance of a core laboratory with respect to these requirements and the acceptable range of interobserver variability can be verified on a regular basis. This will improve the overall quality of a study and, even more importantly, the patient outcome.
Detection of Genetic Structures at Short Distances in the Pisa Area
Authors: Mamolini Elisabetta , Beretta Maria , Barale Roberto , Rodriguez-Larralde Alvaro , Scapoli Chiara , Barrai Italo
Published: April 2003

The genetic structure of the population of the urban and suburban area of the town of Pisa in Tuscany in Central Italy was studied in 1,174 adults residing in 4 zones in each of 3 sampling areas, using the phenotype and gene frequencies of 9 red cell enzymes. The area investigated has a surface of about 30 km2. The enzymes were: acid phosphatase (ACP1), adenosine deaminase (ADA), adenylate kinase (AK1), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphogluco-mutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardised variances, kinship profiles, analysis of correspondences and isonymy were used. It was found that in this area genetic differentiation (possibly due to recent immigration) can be perceived even at short geographic distances, indicated by the significant regression of kinship on distance, especially visible in the ADA and GPT systems.
Factor VIII Gene Inversions in Haemophilia A Patients of Slovakia
Authors: Poláková H. , Kádasi L. , Filová A.
Published: April 2003

Haemophilia A is caused by a broad range of mutations in the factor VIII (FVIII) gene. The most frequent of them is a large inversion, which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). The results here are of 84 unrelated Slovak haemophilia A cases. The factor VIII inversion was identified in 22 of 44 (50%) patients with severe haemophilia A and in 1 of 13 patients with moderately severe disease. The inversions of distal type were more frequent (82.6%) than proximal ones (17.4%).
G6PD Variants in Three South American Ethnic Groups: Population Distribution and Description of Two New Mutations
Authors: Weimer T.A. , Salzano F.M. , Westwood B. , Beutler E.
Published: April 2003

A review is made of G6PD population surveys conducted in 4,558 European-derived, 2,484 admixed Black/Indian/White or Black/White, and 10,298 Indian subjects living in South America. Despite the fact that twice more Amerindians than Whites had been examined, no autochtonous variant was found among them, while seven different types (besides the most common Gd*B, Gd*A, Gd*A– and Gd*Med) were observed among the Whites. We also describe two new mutations in the G6PD molecule (Farroupilha, 977 C→A and Lages, 40 G→A), bringing the number of mutants characterized to 98. G6PD Lages is the most 5′ mutation detected thus far. G6PD Seattle, previously found in the United States and Italy, seems to occur in other European countries and was observed by us in five independent Brazilian families.
The Genetic Polymorphism of Aminolevulinate Dehydratase (ALADH) in Greece
Authors: Kapotis Ch. , Tsomi A. , Babionitakis A. , Grammenou G. , Kosmaoglou E. , Pardalidis N. , Troupis T. , Fertakis A.
Published: April 2003

The distribution of phenotypic and allelic frequencies of aminolevulinate dehydratase (ALADH) in different areas of Greece is reported. The frequencies of the allele ALADH1 and ALADH2 in Greece are 0.955 and 0.0455, respectively.
Phenotypic Variability in Five Cystic Fibrosis Patients Compound Heterozygous for the Y1092X Mutation
Authors: De Braekeleer Marc , Allard Christian , Leblanc Jean-Pierre , Simard Fernand , Aubin Gervais
Published: April 2003

Five cystic fibrosis (CF) patients distributed in three families and compound heterozygotes for the Y1092X mutation have been followed for a period ranging from 5 to 20 years. The genealogical reconstruction identified a common ancestor couple to all 3 families at the 5th generation. All 5 patients were pancreatic insufficient. A high variability in the clinical aspects and pulmonary function was seen between the families, but not within. Based on our observations, it will be very difficult to predict the course of disease for CF patients with the Y1092X mutation, even if they are closely related (first-degree cousins).
Clinical Heterogeneity of Familial Spastic Paraplegia Linked to Chromosome 2p21
Authors: Nance M.A. , Raabe W.A. , Midani H. , Kolodny E.H. , David W.S. , Megna L. , Pericak-Vance M.A. , Haines J.L.
Published: April 2003

The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. All families had ‘pure’ spastic paraparesis (FSP), but the severity of symptoms varied widely among families, and other mild neurologic signs were observed in some subjects. Although no family individually yielded a lod score >3.0, all families yielded positive lod scores with chromosome 2 markers, and a maximal lod score of 5.7 was obtained for the families combined using marker D2S352. There was no evidence of linkage to chromosome 14 or 15 in any of the families.
Negative Association between T102C Polymorphism of the 5-HT2a Receptor Gene and Schizophrenia in Japan
Authors: Shinkai Takahiro , Ohmori Osamu , Kojima Hideki , Terao Takeshi , Suzuki Takashi , Abe Kazuhiko
Published: April 2003

Serotonin (5-hydroxytryptamine, 5-HT) may play an important role in the pathogenesis of schizophrenia. Previous studies suggested that the efficacy of atypical neuroleptic drugs (e.g., risperidone and clozapine) on negative symptoms may be related to the 5-HT2a receptor. Although association studies between MspI polymorphism (T102C) and the 5-HT2a receptor gene and schizophrenia have been reported, their results are still controversial. The aim of this study was to examine the association between T102C polymorphism of the 5-HT2a receptor gene and schizophrenia as well as the association between the polymorphism and negative symptoms in a Japanese population (106 patients with schizophrenia and 109 healthy controls). No significant positive associations were observed. Our results suggest that the 5-HT2a receptor gene is not involved in the pathogenesis of schizophrenia or negative symptoms.
A Novel MspI PCR-RFLP in the Human Cytosine 5-Methyltransferase Gene: Lack of Relevance for Malignant Lymphoproliferative Disease and Breast Cancer
Authors: Bagwe Aparna N. , Ahmed Mohammed O. , Franchina M. , Spagnolo Dominic V. , Papadimitriou John M. , Kay Peter H.
Published: April 2003

Two alternate allelic forms of human cytosine 5-methyltransferase, 5-MT I and 5-MT II, which differ by the absence or presence of an intronic MspI recognition sequence, have been recognised. The polymorphic region was localised using a series of subprobes prepared upon MspI digestion of the 2.5-kb cDNA probe (hmt-2.5). A PCR-based method was then developed for rapid 5-MT genotyping. The gene and phenotype frequencies of 5-MT I and 5-MT II were not significantly different in genomic DNA samples from a series of non-Hodgkin’s lymphomas and breast cancer cases compared with DNA from normal subjects. Allelism of 5-MT allows new approaches to the assessment of variation in gene copy number of 5-MT in different types of neoplasia.
Molecular Variants of Luteinizing Hormone in Three Populations of Southeast Asia
Authors: Ramanujam Lakshmi , Liao Wu-Xiang , Roy Ashim C. , Ng Soon Chye , Ratnam Shan S.
Published: April 2003

Three populations of Southeast Asia comprising 191 Chinese, 121 Malays and 150 Indians, were studied with respect to two recently described mutant luteinizing hormone (LH) variants using molecular techniques. One of these variants had Trp8 to Arg8 and Ile15 to Thr15 replacements in exon 2 of the LH β-subunit, while the other variant possessed Ser102 substitution for Gly102 in exon 3. The exon 2 mutants were in complete linkage disequilibrium. The exon 2 variant had an allele frequency of 0.045 in Chinese, 0.062 in Malays and 0.030 in Indians. The allele frequency of the exon 3 variant was 0.018 in Chinese and null in Malays and Indians. The two LH variants may be markers of interest in studies of disturbed pituitary-gonadal function, menstrual disorders and female infertility.
No Evidence for an Association between a Variant of the Mast Cell Chymase Gene and Atopic Dermatitis Based on Case-Control and Haplotype-Relative-Risk Analyses
Authors: Kawashima Tomoko , Noguchi Emiko , Arinami Tadao , Kobayashi Kimiko , Otsuka Fujio , Hamaguchi Hideo
Published: April 2003

Atopic dermatitis (AD) is a chronic relapsing dermatitis which belongs to the group of atopy-related diseases as well as asthma and allergic rhinitis. As a probable genetic risk which may contribute to the organ specificity of AD, an association between AD and a genetic variant of the gene encoding mast cell chymase (MCC), which has chymotrypsin-like specificity and is abundant in skin mast cells, has been reported in a Japanese population. We tried to confirm the role of this polymorphism in the development of AD in a Japanese population. A case-control analysis using 100 AD patients and 101 controls did not show a significant difference in the frequency of the BB genotype between the patient and control groups (odds ratio 1.12, p = 0.81). The haplotype relative-risk analysis using 69 patient-parents trios did not suggest an association (χ2 = 0.177, p = 0.92). Thus, we failed to confirm the association between the polymorphism in the MCC gene and AD in the Japanese population.
The Short Tandem Repeat Loci hTPO, THO1 and FGA
Authors: Pöltl Roger , Luckenbach Christine , Hixson James , Ritter Horst
Published: April 2003

This paper focuses on the three well-established short tandem repeats HumhTPO (human thyroid peroxidase gene), HumTHO1 (human tyrosine hydroxylase gene) and HumFGA (human alpha fibrinogen gene). We present sequencing data which include the sequences of all the different primer pairs used so far, as well as results from a population study which was carried out on an American Black and a southwestern German population. All data are compared with previously published studies. A test for homogeneity confirmed that non-European populations possess different genetic pools for each of the three loci under investigation.
Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Authors: Bachega Tânia A.S.S. , Billerbeck Ana Elisa C. , Madureira Guiomar , Arnhold Ivo J.P. , Medeiros Maria A. , Marcondes José A.M. , Longui Carlos A. , Nicolau Willian , Bloise Walter , Mendonca Berenice B.
Published: April 2003

The frequency of large mutations was determined in 131 Brazilian patients with different clinical forms of 21-hydroxylase deficiency, belonging to 116 families. DNA samples were examined by Southern blotting hybridization with genomic CYP21 and C4cDNA probes after TaqI and BglII restriction. Large gene conversions were found in 6.6% and CYP21B deletions in 4.4% of the alleles. The breakpoint in these hybrid genes occurred after exon 3 in 92% of the alleles. All rearrangements involving CYP21B gene occurred in the heterozygous form, except in a patient with simple virilizing form who presented homozygous CYP21B deletion. Our data showed that in these Brazilian patients, CYP21B deletions were less frequent than in most of the large series previously reported.
Determination of the Allele Frequencies of Three Polymorphisms in the Promoter Region of the Human Protein C Gene in Three Brazilian Ethnic Groups
Authors: Mendes Christiane P.O. , Hackel Christine , Arruda ValderR. , Annichino-Bizzacchi JoyceM.
Published: April 2003

The frequencies of three polymorphisms in the promoter region of the human protein C gene have been determined in three ethnic groups of the Brazilian population. The allele frequencies observed in south-eastern Brazilian Caucasians and Blacks were similar to the values obtained for the Dutch population and were different from those observed in Amazonian Indians living in the north of the country. The most frequent genotypic combination found in this latter group was the CC/GG/AA genotype, which is very rare among Caucasians. The complete heterozygous genotype CT/AG/At̲ was the most frequent both in Brazilian Caucasians and Blacks. Among 27 possible genotypic combinations, 21 were found in the Caucasian group and 15 in Blacks, revealing a high degree of genetic diversity in south-eastern Brazilian populations.
True Pedigree Errors More Frequent Than Apparent Errors for Single Nucleotide Polymorphisms
Authors: Gordon Derek , Heath SimonC. , Ott Jürg
Published: April 2003

Single nucleotide polymorphisms (SNPs) are currently being developed for use in disequilibrium analyses. These SNPs consist of two alleles with varying degrees of polymorphism. A natural design for use with SNPs is the ‘haplotype relative risk’ sampling design in which a father, mother, and child are typed at an SNP locus. Given such a trio of genotypes, we ask: what is the probability that a pedigree error (a change from one allele to the other) at an SNP locus will be detected using only Mendel’s laws as a check? We calculate the probability of detecting such errors for a hypothetical SNP locus with varying degrees of polymorphism and for various true error rates. For the sets of allele frequencies considered, we find that the detection rates range between 25 and 30%, the detection rate being lowest when the two alleles have equal frequencies and the highest when one allele has a frequency of 10%. Based on this detection rate, we determine that the true error rate is roughly 3.3–4 times that of the apparent error rate at an SNP locus. The greatest discrepancy between true and apparent error rates occurs when allele frequencies are equal.
Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients
Authors: Kučinskas Vaidutis , Payne AnnetteM. , Ambrasienė Daiva , Jurgelevičius Vaclovas , Steponavičiūtė Danguolė , Arčiulienė JulijaVidutė , Daktaravičienė Emilija , Bhattacharya Shomi
Published: April 2003

Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). A total of 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and peripherin/RDS (RDS) genes was performed using DNA heteroduplex analysis. Direct DNA sequencing in the cases of heteroduplex formation showed the presence of the following mutations and polymorphisms in 14 adRP patients: RHO gene – Lys248Arg (1 case), and Pro347Leu (2 cases); RDS gene – Glu304Gln (12 cases), Lys310Arg (5 cases), and Gly338Asp (12 cases). The presence of these mutations (except Lys248Arg in the RHO gene) was confirmed by relevant restriction enzyme digestion. The frequency of the RDS gene mutations Glu304Gln and Gly338Asp was estimated to be 36.4%, while mutation Lys310Arg was less frequent (15.2%). These 3 RDS gene mutations appear to be polypeptide polymorphisms not related to adRP.