bluuebunny/crossref_metadata_2025 huggingface dataset:
Generalizable Outcomes of Bilingual Aphasia Research
Authors: Paradis Michel
Published: April 2003

A number of constructs developed to account for bilingual aphasia phenomena have been advantageously extended to increase our understanding of language representation, processing, breakdown and rehabilitation in unilinguals as well. In particular, focus on the right-hemisphere-based pragmatic component of verbal communicative competence, the activation threshold, the control of resources, the role of emotion in second language acquisition and that of procedural vs. declarative memory, has led to the suggestion that unilinguals are in fact at one end of a continuum, with multilinguals who speak genetically unrelated languages at the other end. No function is available to the bilingual speaker that is not already available to the unilingual, unidialectal speaker. The only difference seems to be the degree of use the speaker makes of each of the relevant cerebral systems.
Speech Therapy in the Management of Male-to-Female Transsexuals
Authors: de Bruin M.D. , Coerts M.J. , Greven A.J.
Published: April 2003

This article discusses communication problems of transsexuals and gives an example of phoniatric and logopedic assessment as well as a possible ‘prototype’ of speech therapy with male-to-female transsexuals.
Macaques but Not Lemurs Co-Orient Visually with Humans
Authors: Anderson James R. , Mitchell Robert W.
Published: April 2003

The ability to engage in visual co-orientation (VCO) is suggested by naturalistic observations of primates, but experimental comparisons of different species are lacking. This study compared the propensity of lemurs (Eulemur macaco) and macaques (Macaca arctoides) to engage in VCO, defined as turning to look in the same direction as another individual whose focus of attention changes. The macaques consistently showed VCO whereas the lemurs showed no such response. This species difference has implications for understanding the evolutionary origins of more advanced abilities that build upon VCO, such as shared visual attention and theory of mind.
Sexual Behavior and Extragroup Copulations in a Wild Population of Common Marmosets (Callithrix jacchus)
Authors: Digby Leslie J.
Published: April 2003

Sexual behavior and mating patterns are described for 3 free-ranging groups of common marmosets living in a coastal forest in northeastern Brazil. Each group contained 2 breeding females. Within groups, sexual behavior was generally restricted to breeding females and a single behaviorally dominant male. Of 101 mounts and copulations, 24 involved pairings of individuals from 2 different groups. Extragroup sexual behavior was performed by both breeding and nonbreeding group members, and 65% of all adults mounted or copulated with an extragroup individual at least once. Sexual behavior occurred throughout the female reproductive cycle but was significantly more frequent during an 11-day ‘conception period’. Thus, while female marmosets show no physical signs of estrus, both males and females likely do have some information about the timing of ovulation. Mating patterns in this population included both polygyny and monogamy and varied between groups and over time.
Effects of Allocare-Givers on Fitness of Infants and Parents in Callitrichid Primates
Authors: Bales Karen , Dietz James , Baker Andrew , Miller Kimran , Tardif Suzette D.
Published: April 2003

The effects of callitrichid primate helpers (allocare-givers other than an infant’s father) on the survival, reproduction or behavior of infants and parents are reviewed, using both published studies and data from free-ranging golden lion tamarins (Leontopithecus rosalia). Three lines of evidence suggest that helpers may increase their own inclusive fitness: (1) The number of adult males acting as helpers in free-ranging groups is correlated with the number of surviving infants in 3 callitrichid species. However, the lack of a negative correlation with number of infants dying suggests that activities other than direct infant care (e.g. territory defense) may be more important, especially in newly formed groups. (2) In 2 species, captive groups with helpers carry infants for longer periods of time than do groups without helpers. Whether such differences would translate into meaningful survival differences in free-ranging groups is unclear. (3) Helpers reduce the energetic burden of parents by reducing the amount of time they spend transporting or provisioning infants in at least 4 species. Reproductive males are more likely than reproductive females to benefit from the presence of helpers, reducing their investment in infant care activities as the number of helpers in the group increases. In free-ranging golden lion tamarins, the reproductive tenure of males, but not females, increases with the number of helpers in the group, suggesting that a reduction in energetic investment may translate into increased survival. ‘Decisions’ made by helpers to participate in infant transport are weighed against competing needs for foraging, vigilance, territory defense and, in some cases, prospecting for breeding opportunities. Given this complexity, a sophisticated model may be required to answer the question of how helpers ‘decide’ to participate in infant care versus other activities.
Allocare, Predation Risk, Social Structure and Natal Coat Colour in Anthropoid Primates
Authors: Ross Caroline , Regan Gemma
Published: April 2003

Many primate species have a natal coat coloured differently from the coat colour of adults and, in some cases, the natal coat is very different from that of older animals with the infant being conspicuous and/or brightly coloured. This study uses data from 82 anthropoid species to investigate possible correlates of conspicuous natal coat colour (CNC), using comparative, phylogenetically controlled analyses. Five hypotheses were tested using statistical tests on both species data and phylogenetically controlled data. The analyses show some support for the hypothesis that CNCs have evolved to promote allocare but the degree of CNC does not correlate with predation rates, arboreality, or relative testes size.
Diet and Feeding Behaviour of the Black-and-White Ruffed Lemur (Varecia variegata variegata) in the Betampona Reserve, Eastern Madagascar
Authors: Britt Adam
Published: April 2003

The feeding behaviour and diet of the black-and-white ruffed lemur (Varecia variegata variegata) was investigated in the Betampona Reserve, eastern Madagascar. The highly frugivorous diet of this subspecies was confirmed – feeding on fruits accounting for 92.0% of feeding records. Most feeding at Betampona was observed at 10–25 m above the forest floor amongst flexible, small (0.5–5.0 cm diameter) and oblique/horizontal (0–45°) supports. The Varecia spent on average 21.7% (± 1.5) of their daily activity budget feeding and employ a variety of postures that enable them to harvest fruits in the rain forest canopy. The suspensory postures were the most important in allowing Varecia to compete with other smaller-bodied frugivores.
Development of Quadrupedal Locomotion on Level Surfaces in Japanese Macaques
Authors: Kimura Tasuku
Published: April 2003

Longitudinal comparisons of high-speed quadrupedal locomotion on level surfaces were made on 4 infant Japanese macaques (Macaca fuscata) with normal mother-infant relationships. Compared to adults, infants exhibited considerable variation in each step of locomotion. Braking components of foot force tended to be larger in the forelimb than in the hindlimb during the infant stage of development. Conversely, accelerating components were larger in the hindlimb than in the forelimb. In 1- and 2-month-old infants, vertical components in the hindlimb were not significantly larger than those of the forelimb. Fore- and hindlimb differentiation in infant Japanese macaques resembles that of adult macaques even at this early stage of development.
Oral Tool Use by Captive Orangutans (Pongo pygmaeus)
Authors: O’Malley Robert C. , McGrew W.C.
Published: April 2003

Eight captive orangutans (Pongo pygmaeus) were given wooden blocks embedded with raisins and bamboo as raw material for tool making in a study of manual laterality. In about three quarters of the raisin extraction bouts, the orangutans held the tool in the lips or teeth rather than in their hands. Three adult males and 2 adult females showed extreme (≥92%) preference for oral tool use, a subadult male and an adult female used oral tools about half the time, and 1 adult female preferred manual tool use. Most oral tool users made short tools (approx. 4–10 cm long) that were held in the lips and (probably) supported by the tongue. Preference for oral tool use does not correlate with body weight, age or sex, but it may be related to hand size or individual preference. This is the first report of customary oral tool use as the norm in captive orangutans; it resembles the behavioral patterns reported by van Schaik et al. and Fox et al. in nature.
Cardiovascular Risk Factors and 18-Month Mortality and Morbidity in an Elderly Chinese Population Aged 70 Years and Over
Authors: Woo J. , Ho S.C. , Yuen Y.K. , Yu L.M. , Lau J.
Published: April 2003

Objective: To determine the influence of some cardiovascular risk factors (hypertension, diabetes mellitus, smoking habit, physical activity, obesity, adverse lipid profile) in elderly Chinese aged 70 years and over, on overall mortality and morbidity from stroke and ischaemic heart disease. Design: Longitudinal study relating 18-month outcome to baseline values. Subjects: 2,032 subjects (999 men, 1,033 women), mean age 80 years, recruited by random sampling of the Old Age and Disability Allowance Schemes, which covers 90% of the Hong Kong elderly subjects, stratified by sex and 5-year age groups from 70 years onwards. Methods: At baseline, subjects were visited by interviewers to collect information regarding medical conditions, smoking habit, physical activity, and to measure their height, weight, skinfold thickness, and waist/hip ratio. A follow-up survey was carried out 18 months later to establish the development of any new stroke or ischaemic heart disease, and to note any deaths and the cause of such deaths from death certification. Results: In multivariate analysis overall mortality was negatively associated with body mass index and participation in physical activity, after adjusting for age and sex. Death from stroke was associated with a higher systolic blood pressure at baseline. Among survivors, the only significant associations observed were a negative association between body mass index and the development of heart disease, and a positive association between systolic blood pressure and development of stroke. Conclusions: Few associations between cardiovascular risk factors and morbidity and mortality were demonstrated in elderly Chinese with a mean age of 80 years. The only modifiable risk factor appears to be systolic blood pressure.
Unsere Universitätskliniken brauchen Forschung – Unser Fach auch!
Authors: Haller, Zürich U. , Hepp, München H. , Reinold, Wien E.
Published: April 2003

Die an den Hochschulen betriebene Forschung muss als Nährboden für Wissenschaft und Technik dienen und soll einen qualifizierten, kritischen, aber motivierten Nachwuchs heranbilden. Dieser braucht eine zweckfreie, nicht an kurzfristigen Zielen orientierte Grundlagenforschung. Zwischen Hochschule und Wirtschaft bedarf es einer offenen und unverkrampften Zusammenarbeit ohne gegenseitige Abhängigkeit. Dies alles bedarf grösserer Autonomie für die Hochschulen. In deutschsprechenden Ländern haben viele Menschen zum wissenschaftlichen Fortschritt ein gestörtes Verhältnis. Es geht ja nicht um «Fortschritt um jeden Preis», sondern um eine sorgfältige, sachbezogene Nutzen- und Risikoanalyse. Sparübungen bei der Wissenschaft und Forschung sind gefährlich und kurzsichtig. Investitionen in die Forschung sind Investitionen in die Zukunft.
Vulväres Pseudolymphom: Nachweis der Infektion mit Borrelia burgdorferi mittels Polymerasekettenreaktion
Authors: von Orelli St. , Schnarwyler B. , Maurer R. , Hirsch H. , von Castelberg B.
Published: April 2003

Wir berichten über eine 42jährige Patientin mit sogenanntem vulvärem Pseudolymphom nach Infektion mit Borrelia burgdorferi. Die Diagnose wurde mittels PCR-Untersuchung am paraffineingebetteten Gewebe einer Biopsie gesichert. Nach 3wöchiger Therapie mit Doxycyclin waren die nicht exzidierten Hautveränderungen abgeheilt.
Die Geschichte der Universitäts- Frauenklinik Rostock 1887–1997: Was ist geblieben?
Authors: Schwarz Reinhold
Published: April 2003

Historische Betrachtung 110 Jahre nach Eröffnung der Abteilung für Geburtshilfe und Frauenheilkunde, die auch heute noch in Betrieb ist, unter dem Blickwinkel des historischen Bestands dessen, was in dieser Zeit wissenschaftlich erarbeitet wurde. Zu würdigen sind vor allem die Arbeiten von Friedrich Schatz über die intrauterine Tokographie, die Beschreibung der zyklischen Vorgänge im Ovar und davon abhängig in der Uterusschleimhaut durch Robert Schröder sowie die Arbeiten über die Physiologie und die Pathophysiologie der Schwangerschaft, insbesondere Präeklampsie und Eklampsie, von Helmut Kyank.
A Characterization of the Coagulant and Fibrinolytic Profile of Human Pancreatic Carcinoma Cells
Authors: Kakkar A.K. , Chinswangwatanakul V. , Tebbutt S. , Lemoine N.R. , Williamson R.C.N.
Published: April 2003

The activation of coagulation and fibrinolytic pathways is well recognized in patients with malignant disease including those with carcinoma of the pancreas. The elaboration of activators and inhibitors of coagulation and of fibrinolysis has been assessed in 8 human pancreatic adenocarcinoma cell lines in vitro. Tissue factor (TF) was commonly synthesized with wide variations in the amount produced between cell lines, whereas its inhibitor (tissue factor pathway inhibitor, TFPI) showed lower but more consistent levels. Of the activators of fibrinolysis, urokinase was produced by all but one cell line, whereas tissue plasminogen activator expression was much less frequently seen. A correlation between low TF or high TFPI and cell doubling time was demonstrated. These data suggest a complex interaction of tumour-derived enzymes capable of interacting with most haemostatic mechanisms.
High Doses of Methylene Blue/Light Treatment Crosslink the A-Alpha-Subunit of Fibrinogen: Influence of This Photooxidization on Fibrinogen Binding to Platelets
Authors: Lorenz M. , Müller M. , Jablonka B. , Vigh T. , Kirchmaier C.M.
Published: April 2003

Irradiation in the presence of 1 µM methylene blue (MB) inactivates enveloped viruses in human plasma. This method is a useful tool to enhance the safety of human fresh-frozen plasma in blood donor banks. Via a photooxidative mechanism, viral structures as well as plasma proteins, especially fibrinogen, can be damaged. We investigated the effect of MB/light-induced photooxidative modification on the structure of fibrinogen and its function in the interaction with platelets in the concentration range of 1–50 µM MB. Densitometric scanning of reduced SDS-PAGE showed a decrease in the Aα-subunit of fibrinogen as well as an increase in high-molecular-weight (HMW) aggregates with increasing MB concentrations. The HMW aggregates may be due to covalent crosslinking of single Aα-subunits via photooxidation induced by MB/light treatment. Fibrinogen treated with high doses of MB (50 µM) showed a weaker binding to the fibrinogen receptor (GP IIb/IIIa) on the platelet surface and a decrease in platelet aggregation after stimulation with ADP and photooxidized fibrinogen. These effects were not detected in fibrinogen isolated from virus-inactivated plasma (1 µM MB). This was in agreement with normal binding of fibrinogen to GP IIb/IIIa on platelets.
Surrogate Endpoints for the Assessment of Efficacy in Venous Thromboembolism Treatment Trials
Authors: Lensing A.W.A.
Published: April 2003

For the assessment of the efficacy of anticoagulant therapy in patients with symptomatic venous thrombosis, the incidence of symptomatic venous thromboembolic complications is the outcome measure of choice. However, the low incidence of such complications necessitates the inclusion of a prohibitively large number of patients in randomized trials evaluating anticoagulant regimens. Therefore, alternative efficacy outcome measures are desirable. This paper discusses the validity of the following alternative tests: venography and compression ultrasound for deep vein thrombosis; and pulmonary angiography and perfusion lung scanning for pulmonary embolism. It is concluded that a combination of one of the deep vein thrombosis tests and perfusion lung scanning is the optimal approach. A thrombotic burden assessment, using repeat venography and perfusion lung scanning, has been performed at the end of treatment (day 10) with low-molecular-weight heparin and unfractionated heparin in 170 patients with symptomatic proximal deep vein thrombosis. An improved thrombotic burden was associated with a low number of subsequent symptomatic venous thromboembolic complications (4%), whereas this figure gradually increased for patients with an unchanged (10%) and deteriorated (29%) outcome (p < 0.005). It is concluded that the thrombotic burden assessment has potential to replace symptomatic outcomes, especially in dose-finding studies.
Mechanisms of Hypercoagulation in Malignancy and during Chemotherapy
Authors: Falanga Anna
Published: April 2003

Patients with cancer are at increased risk for thromboembolic disease. Commonly they present with abnormalities of one or more circulating markers of haemostatic system activation, underlying a ‘hypercoagulable state’. Despite numerous investigations which have identified alterations in all of the haemostatic components (i.e. coagulation, fibrinolysis, endothelium, platelets and monocytes), no firm conclusions have been reached regarding the clinical utility of any of these coagulation markers for predicting thrombosis in cancer patients. The predictive value of one or more of these tests could help to identify safe and effective methods for prophylaxis against thrombotic complications in these patients. Plasma clotting abnormalities are usually exacerbated by chemotherapy. The mechanisms by which the haemostatic system is activated in malignancy (and chemotherapy) are reviewed.
Activated Recombinant Human Coagulation Factor VII Therapy for Intracranial Hemorrhage in Patients with Hemophilia A or B with Inhibitors
Authors: Arkin S. , Cooper H.A. , Hutter J.J. , Miller S. , Schmidt M.L. , Seibel N.L. , Shapiro A. , Warrier I.
Published: April 2003

Activated recombinant human coagulation factor VII (rFVIIa) is a promising new therapeutic agent for patients with hemophilia A or B with inhibitors who experience serious bleeding episodes or who need coverage during surgical procedures. This open-label, uncontrolled, emergency-use study evaluated the efficacy and safety of rFVIIa in 11 hemophiliac patients and 1 FVII-deficient patient with life-threatening intracranial hemorrhage previously unresponsive to one or more alternative therapies. rFVIIa effectively controlled intracranial hemorrhage in 10 of the 12 patients. Patients with hemophilia A or B received an average of 96.9 rFVIIa injections over 14.7 days with a mean total administration of 153.3 mg, corresponding to 8.1 mg/kg. Most reported adverse events were considered to be unrelated to rFVIIa therapy. These findings suggest that rFVIIa is an effective and well-tolerated therapeutic option in the management of central nervous system bleeding in patients with hemophilia A or B with inhibitors.
The New Epidemic: Frequency of Dementia in the Rotterdam Study
Authors: Breteler Monique M.B. , Ott Alewijn , Hofman Albert
Published: April 2003

Dementia is one of the most frequent and devastating disorders in the elderly. Due to the increased longevity and the increasing number of elderly people in our society, it is emerging more and more as a major health problem. We quantified the frequency and lifetime risk of dementia, and of subtypes of dementia, in the Rotterdam Study, a population-based prospective cohort study among 7,983 subjects over the age of 55 years. The overall prevalence was 6.4% and the overall incidence 1 per 100 person-years. Both prevalence and incidence increased strongly with age. Typical incidence estimates for age 65, 75 and 95 are 1 per 1,000, 1 per 100 and 1 per 10 person-years. One in 6 men, and almost 1 in 3 women, will suffer at least some of their lifetime from dementia.
Diagnostic Criteria for Vascular Dementia
Authors: Scheltens Ph. , Hijdra A.H.
Published: April 2003

The term vascular dementia implies the presence of a clinical syndrome (dementia) caused by, or at least assumed to be caused by, a specific disorder (cerebrovascular disease). In this review, the various sets of criteria used to define vascular dementia are outlined. The various sets of criteria are judged whether they contain criteria for both dementia and vascular disease as well as for the relationship between the two. We conclude that only the criteria of the State of California Alzheimer’s Disease Diagnostic and Treatment Centers and of NINDS-AIREN provide sufficient operational criteria for dementia suitable for use in patients with vascular disease as well as for the diagnosis of cerebrovascular disease and for the establishment of a relationship between dementia and vascular disease. The latter criteria include also specific recommendations to the use of CT and MRI. However, the interpretation of the neuroimaging findings in the context of mixed vascular and degenerative dementia demands further study. Given the heterogeneous pathophysiology and pathology of vascular dementia and the modest reliability of the criteria, it seems plausible that the diagnosis of vascular dementia will become more reliable when specific diagnostic tests for the various degenerative diseases, from which vascular dementia has to be differentiated, become available.
Relative and Absolute Changes of Activated Platelets, Microparticles and Platelet Aggregates after Activation in vitro
Authors: Matzdorff A.C. , Berchner D. , Kühnel G. , Kemkes-Matthes B. , Pralle H. , Voss R.
Published: April 2003

Standard flow cytometers provide relative numbers of activated platelets, microparticles, and platelet aggregates. With fluorescent beads it is now possible to determine absolute numbers. Whole blood and platelet-rich plasma were incubated with agonists (ADP, collagen, thrombin). CD62p expression, microparticle and platelet aggregate formation were measured. Flow-Count Fluorospheres® were added to calculate absolute concentrations. After activation there was an increase in the percentage of CD62p-positive platelets. However, the total number of platelets decreased and therefore the absolute number of CD62p-positive platelets did not increase but decreased. The number of CD62p-positive platelets decreased not as much as the number of CD62p-negative platelets, which explains why the relative percentage of CD62p-positive platelets increased. A similar increase in percent and decrease in absolute counts was found for microparticles. Platelet aggregates increased both in relative and absolute numbers. These results suggest that the detection of activated platelets by flow cytometry has to be complemented by the determination of the absolute concentrations to avoid misinterpretation.
Genetic Risk Factors in Acute Coronary Disease
Authors: Araújo F. , Santos A. , Araújo V. , Henriques I. , Monteiro F. , Meireles E. , Moreira I. , David D. , Maciel M.J. , Cunha-Ribeiro L.M.
Published: April 2003

Objective: We investigate whether each of the following: HPA-1, Factor V Leiden, prothrombin gene variant and the methylene tetrahydrofolate reductase gene (MTHFR) mutation, are risk factors for acute coronary disease in Portuguese patients. Material and Methods: 100 blood donors and 52 patients with an established diagnosis of myocardial infarction or unstable angina were evaluated for genetic risk factors, by determining HPA-1 genotype, Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation. Results: We found a prevalence of 2.0% for Factor V Leiden, 5.0% for the Prothrombin 20210 variant and 66% for the MTHFR mutation in blood donors. These values are similar to those found in the patients (1.9, 3.8 and 58%, respectively). We found that 28/100 controls had the PIA2 polymorphism, a frequency statistically different from that in the patients (23/52). This difference was even more pronounced in patients less than 60 years old (27/96 vs. 13/24). Conclusion: Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation do not seem to represent risk factors for acute coronary disease. However, the PIA2 polymorphism could have a role in the pathogenesis of this disease. The presence of multiple genetic factors, more than single ones, could influence the development and outcome of myocardial infarction and unstable angina. Larger studies are needed in order to have a better insight into the pathophysiological mechanisms of this disease, along with its prevention and the development of new treatments.
Hemorheological Profile in Chronic Venous Insufficiency after Surgery
Authors: Azaceta Gemma , Romero Soledad , Moreno Jose Antonio , Vaquerizo Alfonso , Olave Teresa , Lorente Cristina , Azcona Jose Miguel , Gutiérrez Martín
Published: April 2003

In recent years, there have been rheological abnormalities reported in chronic venous insufficiency (CVI), mainly an increase of erythrocyte aggregability (EA), which probably take part in the pathophysiology of the disease. The aim of this study was to analyze the hemorheological profile after stripping in 45 patients suffering from CVI. Follow-up included laboratory tests on the 7th, 60th and 180th day after surgery. EA was assessed with a photometric aggregometer (MA1, Myrenne) in stasis and low shear (3 s–1). The results show an increase of EA on the 7th day after surgery (p < 0.001). Two and 6 months later, EA values returned to those found prior to surgery. The plasma fibrinogen level changes in a way parallel to EA. The association between rheological disturbances and thrombogenesis is well known, so the hyperaggregability found supports the antithrombotic prophylaxis in the early postsurgical period. On the other hand, the hemorheological abnormalities persist after stripping, so postsurgical treatment to inhibit EA may be beneficial.
Infusion Phlebitis in Post-Operative Patients: When and Why
Authors: Monreal Manuel , Oller Benjamin , Rodriguez Nivardo , Vega Josep , Torres Tomás , Valero Patricia , Mach Gemma , Ruiz Ana Eugenia , Roca Josep
Published: April 2003

Background: The most common complication of intravenous therapy is infusion phlebitis. This study was done to prospectively assess its frequency in a series of consecutive patients who will undergo surgery, and to identify which variables may predict an increased risk for phlebitis. Patients and Methods: 400 consecutive patients who will undergo surgery in a general surgery department were included. Only the first catheter, inserted the day before surgery, was taken into account. Eighteen variables (from the infusion, the catheter and from the patient) were prospectively evaluated for their contribution to the occurrence of phlebitis. Results: 60/400 patients (15%) developed phlebitis, and most of them needed insertion of a further catheter. The univariate analysis showed that patients who developed phlebitis were older, and their pre-operative levels of both blood haemoglobin and neutrophil cound were significantly higher than those in patients who did not develop phlebitis. However, the multivariate analysis only confirmed the association with blood haemoglobin levels: the risk of phlebitis sharply increased in the patients with the highest haemoglobin levels. As to the influence of time on phlebitis development, there was a significant decrease in the day-specific risk, from the 5th day on. Comments: In our series, blood haemoglobin levels were found to be the only variable associated to a higher risk of phlebitis. Besides, in contrast with the recommendations by the Centers for Disease Control, no significant increase in the day-specific risk of phlebitis was found. Thus, a guideline to select the type of catheter to be inserted in an individual patient is suggested.
Comparison of the Effects of Acetylsalicylic Acid, Ticlopidine and Cilostazol on Primary Hemostasis Using a Quantitative Bleeding Time Test Apparatus
Authors: Tamai Yoshiko , Takami Hideki , Nakahata Rieko , Ono Fusako , Munakata Akihiro
Published: April 2003

We examined and compared the effects of aspirin (ASA), ticlopidine (TP) and cilostazol (CS) on bleeding time (BT) in 10 healthy adult male subjects using a newly developed quantitative bleeding time (QBT) test apparatus capable of simultaneously measuring total blood loss (Tv), maximum bleeding rate (Rmax), and bleeding pattern in addition to BT. All 3 drugs inhibited platelet aggregation response to ADP, collagen, epinephrine and arachidonic acid (p < 0.05), but not to ristocetin. Following oral administration of ASA (330 mg/day) or TP (300 mg/day) for 3 days, BT was significantly prolonged (mean BT increased from 359.3 to 646.0 s, p < 0.001, and from 323.3 to 528.7 s, p < 0.01, respectively) and Tv was significantly increased (from 14.5 to 30.2 μl, p < 0.05, and from 12.5 to 19.2 μl, p < 0.01, respectively). Aspirin also increased Rmax (from 0.118 to 0.159 μl/s, p < 0.05). The prolonged bleeding patterns after administration of ASA and TP were both type III, which has been reported to be less likely to lead to bleeding accidents. In contrast, none of these QBT parameters were altered by CS administration.
Factor V (His 1299 Arg) in Young Turkish Patients with Cerebral Infarct
Authors: Akar Nejat , Yilmaz Erkan , Akar Ece , Deda Gülhis , Sipahi Tansu
Published: April 2003

Inherited gene defects related to the coagulation system have been reported as risk factors for stroke. Recently, a genetic component in the factor V (FV) gene that contributes to activated protein C resistance both in the presence and absence of FV 1691 G→A was reported. This highly conserved FV gene haplotype was marked as R2 polymorphism, an A to G alteration at position 4070 in exon 13 that predicts the His 1299 Arg substitutions. The aim of this study was to evaluate the role of this mutation in Turkish children with ischemic infarct. The case-control study included 48 patients with cerebral infarction; all were 18 years of age or younger (range: 10 months to 18 years). Ten (20.8%) of the 48 patients were found to carry the FV 1299 His→Arg mutation, one being homozygous. One patient who had a combination of FV 1691 G→A and protein C deficiency also carried the FV 4070A mutation. A homozygous FV 1299A patient had a prothrombin (PT) 20210A mutation in the heterozygous state. The cerebral infarct risk for FV 1299 was found to be 2.4 (95% confidence interval 0.9–6.8) for all groups. When underlying conditions were excluded, the incidence of FV 1299 was found to be 8/35 (22.8%), but the risk was almost the same. When two other common thrombophilic mutations (i.e. FV 1691 G→A and PT 20210 G→A) were excluded, the incidence of FV 4070 mutation increased to 7/21 (33.3%). The risk also increased to 3.9 (95% confidence interval 1.2–12.3).
The Development of Cognitive Flexibility: Evidence from Children’s Drawings
Authors: Spensley Fiona , Taylor Josie
Published: April 2003

Karmiloff-Smith [1990] has claimed that her ‘draw a strange man’ task indicates that young children’s first successful drawings are produced by inflexible procedural representations – consistent with her Representational Redescription (RR) model. In this paper, children’s drawings of a man with a beard, ‘a strange man’ and a normal man simply interrupted, indicated that young children are able to make modifications mid-procedure in a manner inconsistent with a procedural representation. Examination of the order of production of drawing elements indicated that the sequence is not as rigid as Karmiloff-Smith had predicted. A difference in types of spontaneous modifications with age in the ‘draw a strange man’ task was replicated. However, a further task explicitly requesting all the types of modifications observed in strange-man drawings (e.g., draw a man with something missing) demonstrated that young children have the ability to make all the types modifications, even if they do not do so spontaneously. Theoretical problems with the RR model in the drawing domain are discussed, and a new model, Recursive Re-Representation, is proposed which overcomes these theoretical problems and accounts more parsimoniously for the empirical data.
Generating Consistent Genotypic Configurations for Multi-Allelic Loci and Large Complex Pedigrees
Authors: Heath Simon C.
Published: April 2003

Markov chain Monte Carlo techniques have been applied to many different genetic analysis problems. Gibbs sampling in particular has been widely used because of its simplicity and because it can be extended to arbitrarily complex pedigrees and genetic models (albeit with modifications for multi-allelic loci). Gibbs sampling requires an initial genotypic configuration, consistent with observed data, the generation of which is not trivial with large complex pedigrees and multi-allelic loci. A method to generate feasible genotype configurations in these circumstances using a combination of peeling and genotype elimination is described. The method is illustrated using two complex multi-generation pedigrees, one real and one simulated, each partially typed for one highly polymorphic marker locus.
Estimating Recombination Fraction Separately for Males and Females: A Counterintuitive Result
Authors: Hodge Susan E. , Flodman Pamela L. , Duryea Melinda F. , Spence M. Anne
Published: April 2003

In the course of performing a linkage analysis on rats bred from inbred doubly heterozygous parents, we observed the following counterintuitive finding: the lod scores more strongly supported the hypothesis that all the recombinations occurred in one sex (without specifying which sex), rather than that some recombinations occurred in each sex. In this brief paper we explain how this apparent anomaly can arise. We point out that very different values of the recombination fraction vector θ = (θ♀, θ♂) can give rise to likelihoods that do not differ by much. We suggest that caution be exercised when investigators interpret results of linkage analyses in which estimates of θ♀ and θ♂ differ widely.
Association between Variants of Mast Cell Chymase Gene and Serum IgE Levels in Eczema
Authors: Mao X.-Q. , Shirakawa T. , Enomoto T. , Shimazu S. , Dake Y. , Kitano H. , Hagihara A. , Hopkin J.M.
Published: April 2003

851 school children aged at 12–13 years including 145 with eczema were tested for genetic association to a mast cell chymase (MCC) genetic variant. MCC genotypes showed a strong association with eczema, but not with asthma and rhinitis. This association is strongest in eczematous children with lower serum total IgE levels. Independent of IgE responsiveness when total serum IgE of less than 500 IU/ml, MCC variants may play an important role in inflammatory skin disorders.
Effect of α-Gene Numbers on the Expression of β-Thalassemia intermedia, β-Thalassemia and (δβ)°-Thalassemia Traits
Authors: Altay Ç. , Öner C. , Öner R. , Gümrük F. , Mergen H. , Gürgey A.
Published: April 2003

The effects of variations in α-gene numbers on phenotypical expression of β-thalassemia are assessed in 11 subjects of 8 families. The study indicates that coexistence of α-thalassemia (–α3.7/αα) decreases the HbF in IVSI-6 homozygote and in δβ-thalassemia trait and may ameliorate the disease in β-thalassemia compound heterozygotes associated with one mild and one severe β-thalassemia mutation. Coexistence of α-gene triplication is associated with an increase in HbF value and may increase the severity of β-trait or β-thalassemia intermedia. The effects of α-gene triplication on phenotypic expression of β-thalassemia trait may not be uniformly observed in every subject affected with a similar genotype.
The Awá-Guajá Indians of the Brazilian Amazon
Authors: de Oliveira Silviene Fabiana , Lopes Davi Eduardo Braga , Santos Sidney E.B. , Guerreiro João Farias
Published: April 2003

The South-American Indian group Awá-Guajá, currently living in the State of Maranhão (Northeastern Brazil), is one of the most recently contacted Indian groups of the Brazilian Amazon. This group is made up by three partially isolated villages named Awá, Guajá and Juriti, and is characterized by having a young population, in which 47.6% of the individuals range from 0 to 14 years old. The sex ratios (male/female) for people of reproductive age are 1.13 for Awá village, 2.00 for Guajá, 3.33 for Juriti and 1.61 for the tribe as a whole. Fst and heterogeneity analysis show that, despite the small differences observed among villages for the eight genetic systems analyzed, the Awá-Guajá tribe is constituted of only one population. Furthermore, comparisons between Awá-Guajá and Urubú-Kaapor tribes indicate that they are still isolated genetically, in spite of the fact that they share territories.
Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families
Authors: Speer Marcy C. , Vance Jeffery M. , Lennon-Graham Felicia , Stajich Jeffrey M. , Viles Kristi D. , Gilchrist James M. , Nigro Vincenzo , McMichael Robert , Chutkow Jerry G. , Bartoloni Lucia , Horrigan Steven K. , Westbrook Carol A. , Pericak-Vance Margaret A.
Published: April 2003

The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. Recent linkage analyses and positional cloning studies have identified numerous loci responsible for the recessive and dominant forms, underscoring the inherent heterogeneity. In this report, we investigate four large autosomal dominant limb-girdle pedigrees and exclude these pedigrees from linkage to these loci. In addition, there is no evidence for linkage to any of the seven recessive LGMD loci.
The Power of Linkage Detection by the Transmission/Disequilibrium Tests
Authors: Xiong Momiao , Guo Sun-Wei
Published: April 2003

Despite growing interest in the use of transmission/disequilibrium test (TDT)-type analysis in association studies, there has been surprisingly scant attention paid to the issues as to what factors affect the power of the TDT for linkage detection. We demonstrate in this paper that the power is a function of several genetic parameters including the recombination fraction, penetrance, the age of mutant disease allele, marker allele frequency, recurrent mutation rates at marker and/or disease locus, and initial linkage disequilibrium. In general, TDT has greater power to detect linkage for a ‘recessive’-type model than for a ‘dominant’-type model. Its power also is higher when there is greater differential in marker allele frequency between disease and normal chromosomes. And since the presence of marker mutation and/or recurrent mutation at the disease locus, or the age of disease mutation, or the initial incomplete linkage disequilibrium, all hasten the process to reach linkage equilibrium, all of them can affect the power of TDT to detect linkage. The effect of marker mutation rate or the mutation rate at the disease locus can be minimal if mutation rates are low. The results on the impact of recombination fraction and of age of mutation on the power of TDT in linkage detection seem to be disheartening for gene mappers of complex diseases: for a disease with small genetic influence, a vastly large sample size is needed to detect the linkage, if the marker is not very close to the disease locus. This is particularly true if the disease is ‘old’.
Polymorphisms in the HFE Gene
Authors: Douabin Véronique , Moirand Romain , Jouanolle Anne-Marie , Brissot Pierre , Le Gall Jean-Yves , Deugnier Yves , David Véronique
Published: April 2003

Hereditary hemochromatosis is an autosomal recessive disease characterized by progressive iron overload. Recently, a candidate gene named HFE was isolated on the short arm of the chromosome 6 within which two mutations were identified: C282Y and H63D. To date, only homozygosity for the C282Y mutation is considered as a diagnostic criterion of hemochromatosis. 7.6% of the patients studied in our laboratory did not carry two copies of the C282Y mutation. On the other hand, a dysmetabolic iron overload syndrome has recently been described and the search for the C282Y and H63D mutations revealed that none of the patients was homozygous for C282Y while 67% exhibited one of the mutations. The possibility of a new mutation in the HFE gene has been raised to explain the disease in the remaining patients, as well as, in the few hemochromatotic patients without two copies of the C282Y mutation. The aim of this study was to search for new mutations in the HFE gene in 16 such patients. Direct sequencing of exons and 3 introns did not reveal any new mutation but identified a few polymorphisms.
Analysis of the Complete Coding Region of the CFTR Gene in Ten Algerian Cystic Fibrosis Families
Authors: Loumi O. , Baghriche M. , Delpech M. , Kaplan J.C. , Bienvenu T.
Published: April 2003

The spectrum of cystic fibrosis (CF) mutations in the North African population remains poorly known. In order to offer an effective diagnostic service and to determine accurate risk estimates, we decided to identify the CF mutations in 10 Algerian CF families. We carried out a chemical-clamp denaturing gradient gel electrophoresis analysis of the CFTR gene and automated direct DNA sequencing. We identified 5 mutations and we characterized 60% of the CF chromosomes. Taking advantage of the homogeneity of the sample, we report clinical features of homozygous CF patients.
Screening for Mutations in the Promoter and the Coding Region of the IGFBP1 and IGFBP3 Genes in Silver-Russell Syndrome Patients
Authors: Eggermann Katja , Wollmann Hartmut A. , Tomiuk Jürgen , Ranke Michael B. , Kaiser Peter , Eggermann Thomas
Published: April 2003

In the present study we sought to identify genetic variation in genes for insulin-like growth factor binding proteins 1 and 3 (IGFBP1, IGFBP3) in 7p12–13 which through alteration of protein function or level of expression might contribute to the manifestation of Silver-Russell syndrome. Genomic DNA samples from 49 Silver-Russell syndrome (SRS) patients and from unaffected controls were investigated by single-strand conformation analysis. Overlapping polymerase chain reaction fragments covered the whole coding sequences as well as the 5′ untranslated region of the IGFBP1 and IGFBP3 genes. We detected 3 new polymorphisms in the transcribed sequence of IGFBP1, one amino acid polymorphism in exon 1 of IGFBP3 and four variants in its promotor region and in intron 1. They all occurred in similar frequencies in SRS patients and in controls. Thus, paternally inherited mutations in the promoter and coding regions of IGFBP1 and IGFBP3 genes play neither a major nor a minor role in the etiology of SRS. The newly detected polymorphisms in the coding region are powerful tools for analysis of imprinting status and for detection of possible changes in the imprinting patterns of the two genes.
New AccI Polymorphism in the Follicle-Stimulating Hormone Beta-Subunit Gene andIts Prevalence in Three Southeast AsianPopulations
Authors: Liao Wu-Xiang , Tong Yan , Roy Ashim C. , Ng Soon Chye
Published: April 2003

A thymine-cytosine substitution was identified in exon 3 (codon 76, TAT to TAC) of the human follicle-stimulating hormone (FSH) β-subunit gene. The nucleotide change led to creation of an AccI digestion site. The frequencies of the A allele (with AccI site) in Chinese (n = 201), Malays (n = 168) and Indians (n = 132) were 0.358, 0.333 and 0.402, respectively. The new FSH β-subunit marker may be useful in gene tracking and association studies.
The Behaviors of Some Heritability Estimators in the Complete Absence of Genetic Factors
Authors: Guo Sun-Wei
Published: April 2003

Heritability is an important concept in quantitative genetics and is widely used in human genetics. A high or even a moderate value of heritability estimate is usually taken as evidence for a genetic component for a quantitative trait. In this paper, the behaviors of some correlation-based heritability estimators are reexamined under the assumption of complete absence of any genetic factors. It turns out that when monozygotic (MZ) twins (or full sibs) are environmentally more similar than dizygotic twins (or half sibs), or when there is placement bias in MZ twins reared apart, those correlation-based heritability estimates can lead to nonnegligible or even high heritability values, even when genetic factors are completely absent. These alarming results suggest that extreme care should be exercised when using these heritability estimators.
Glucose-6-Phosphate Dehydrogenase Deficiency in Kuwait, Syria, Egypt, Iran, Jordan and Lebanon
Authors: Usanga Esien A. , Ameen Reem
Published: April 2003

A total of 3,501 male subjects from six Arab countries living in Kuwait were investigated for quantitative and phenotypic distribution of red cell glucose-6-phosphate dehydrogenase (G6PD). The ethnic origins of those investigated were Kuwait, Egypt, Iran, Syria, Lebanon and Jordan. The distribution of G6PD deficiency among the different ethnic groups varied widely, ranging from 1.00% for Egyptians to 11.55% for Iranians. The activity of the normal enzyme was remarkably similar, with values ranging from 6.1 ± 0.8 to 6.5 ± 1.1 IU/g Hb. A low frequency of the GdA allele was found in two ethnic groups, Egyptians (0.019) and Iranians (0.014). GdA– was present at the very low frequency of 0.006 in another two ethnic groups, Kuwaitis and Jordanians.
Screening of Deletions in SMN, NAIP and BTF2p44 Genes in Turkish Spinal Muscular Atrophy Patients
Authors: Savas Sevtap , Gokgoz Nalan , Kayserili Hulya , Ozkinay Ferda , Yuksel-Apak Memnune , Kirdar Betul
Published: April 2003

Deletions of the spinal muscular atrophy (SMA)-determining gene, SMN1, NAIP, and a third multicopy gene, BTF2p44tel were investigated in 60 unrelated Turkish SMA patients. SMN1 was deleted for at least exons 7 and 8 in 85% of the Turkish SMA patients. The NAIP gene was deleted in 75 and 33% of type I and type II SMA patients, respectively. Analysis of the 5′end of the BTF2p44tel gene indicated the extension of deletion in 13.3% of the cases, mainly in type I patients. Deletions of the NAIP and BTF2p44tel genes were detected in 1.3 and 3.9% of carrriers, respectively, in Turkish SMA families. Two patients were detected to harbor the hybrid SMN gene, one type II with deletion of the NAIP gene, and one type III without deletion of the NAIP gene.
Adjusting for Confounding due to Population Admixture when Estimating the Effect of Candidate Genes on Quantitative Traits
Authors: Yang Qiong , Rabinowitz Daniel , Isasi Carmen , Shea Steven
Published: April 2003

When analyzing the relationship between allelic variability and traits, a potential source of confounding is population admixture. An approach to adjusting for potential confounding due to population admixture when estimating the influence of allelic variability at a candidate gene is presented. The approach involves augmenting linear regression models with additional regressors. Family genotype data are used to define the regressors, and inclusion of the regressors ensures that, even in the presence of population admixture, the estimates of the regression coefficients that parameterize the influence of allelic variability on the trait are unbiased. The approach is illustrated through an analysis of the influence of apolipoprotein E genotype on plasma low density lipoprotein cholesterol concentrations.