bluuebunny/crossref_metadata_2025 huggingface dataset:
Mild peripheral neuropathy prevents both leg muscular ischaemia and activation of exercise‐induced coagulation in Type 2 diabetic patients with peripheral artery disease
Authors: Piarulli F. , Sambataro M. , Minicuci N. , Scarano L. , Laverda B. , Baiocchi M. R. , Baldo‐Enzi G. , Galasso S. , Bax G. , Fedele D.
Published: September 2007

Aim  To study the influence of peripheral neuropathy on intermittent claudication in patients with Type 2 diabetes (T2DM).

Methods  Twenty‐five patients with T2DM were grouped according to the ankle/brachial index (ABI): 10 with ABI > 0.9 without peripheral artery disease (PAD; group T2DM) and 15 with ABI < 0.9 with PAD (group T2DM + PAD). Twelve individuals without T2DM with PAD (group PAD without T2DM) were also enrolled. Tests for peripheral neuropathy were performed in all patients. ABI, rate pressure product, prothrombin fragments 1 + 2 (F1+2), thrombin‐anti‐thrombin complex (TAT), and d‐dimer were measured before and after a treadmill test. During exercise both initial and absolute claudication distance and electrocardiogram readings were recorded.

Results  We found mild peripheral neuropathy in 20% of group T2DM and 46.7% of group T2DM + PAD (P < 0.01). After exercise, the rate pressure product increased in each group; ABI fell in T2DM + PAD (P < 0.0001) and in PAD without T2DM (P = 0.0005); the fall was greater in the latter group. Initial and absolute claudication distances were similar in PAD patients. In group T2DM + PAD, absolute claudication distance was longer in the subgroup without peripheral neuropathy (P < 0.05), whereas ABI and rate pressure products were similar. F1+2 values at rest were higher in group T2DM + PAD. After exercise, F1+2 values and TAT increased only in group PAD without T2DM.

Conclusion  Only group PAD without T2DM experienced muscular ischaemia, whereas group T2DM + PAD did not. Mild peripheral neuropathy may have prevented them from reaching the point of muscular ischaemia during the treadmill test, because they stopped exercising with the early onset of pain. Reaching a false absolute claudication distance may induce ischaemic preconditioning. These findings suggest a possible protective role of mild peripheral neuropathy in T2DM patients with intermittent claudication, by preventing further activation of coagulation during treadmill testing.
Efficacy, safety and lack of immunogenicity of insulin aspart compared with regular human insulin for women with gestational diabetes mellitus
Authors: Pettitt D. J. , Ospina P. , Howard C. , Zisser H. , Jovanovic L.
Published: September 2007

Aim  The efficacy and safety of insulin aspart (IAsp), a rapid‐acting human insulin analogue, were compared with regular human insulin (HI) as the bolus component of basal‐bolus therapy for subjects with gestational diabetes mellitus (GDM).

Methods  In a randomized, parallel‐group, open‐labelled trial, 27 women with GDM (age 30.7 ± 6.3 years, HbA1c < 7%) were randomized to receive IAsp (5 min before meal) or HI (30 min before meal). The trial period extended from diagnosis of GDM (18–28 weeks) to 6 weeks postpartum.

Results  Both treatment groups maintained good overall glycaemic control during the study (beginning and end of study HbA1c≤ 6%). During the meal test, mean glucose at week 6 (IAsp 4.2 ± 0.57 mmol/l, HI 4.8 ± 0.86 mmol/l) was slightly lower than at week 0 (IAsp 4.9 ± 0.59 mmol/l, HI 5.1 ± 0.36 mmol/l). However, change from baseline values for average glucose (IAsp –1.09 ± 0.54 mmol/l, HI –0.54 ± 0.74 mmol/l; P = 0.003) and C‐peptide (IAsp –0.50 ± 0.67 nmol/l, HI –0.30 ± 0.70 nmol/l; P = 0.027) were significantly lower after IAsp treatment than HI treatment. No major hypoglycaemic events were reported during the study. Cross‐reacting insulin antibody binding increased slightly from baseline in both treatments groups (end of study: IAsp 2.1 ± 5.4%, HI 6.4 ± 13.9%), whereas antibodies specific to IAsp or HI remained relatively low (< 1% binding).

Conclusion  IAsp was more effective than HI in decreasing postprandial glucose concentrations. Duration of IAsp injection 5 min before a meal rather than 30 min prior to meals offers a more convenient therapy for subjects with GDM. Overall safety and effectiveness of IAsp were comparable to HI in pregnant women with GDM.
Identifying the special needs of children with Type 1 diabetes in the school setting. An overview of parents’ perceptions
Authors: Amillategui B. , Calle J. R. , Alvarez M. A. , Cardiel M. A. , Barrio R.
Published: September 2007

Aims  The aims of this observational study were to identify the special needs of children with Type 1 diabetes in schools from the parents’ point of view and the difficulties experienced with full integration, and to define a series of interventions which may improve the situation.

Methods  Parents of children aged 3–18 years with Type 1 diabetes were eligible. Those who agreed to participate completed a self‐reporting questionnaire which determined the effects of the disease on children, parents and school personnel, and addressed aspects including children's integration, glycaemic control, insulin administration, meals, sports, trips and attitudes of teachers and school colleagues to their disease.

Results  A total of 499 questionnaires were completed and validated. Median age of children was 11.5 years (95% CI 7.8–15.2). Only 34% of parents believed that teachers could recognize the symptoms of a mild hypoglycaemic episode. Seventeen per cent of parents experienced problems at their schools when they informed staff about their children's disease, 5% were finally not accepted and 8% were forced to change school. In some cases, they had to modify glucose monitoring (9%) and treatment administration (16%) because of a lack of cooperation from the school.

Conclusions  Training sessions on Type 1 diabetes, an increase in the number of nurses, better availability of resources from diabetic associations to schools and improved communication between school personnel and parents were identified as key factors that may improve the full integration of the diabetic child in this setting.
Contextualized Personality: Traditional and New Assessment Procedures
Authors: Heller Daniel , Watson David , Komar Jennifer , Min Ji‐A , Perunovic Wei Qi Elaine
Published: September 2007

ABSTRACT
We describe our ongoing program of research related to the assessment of contextualized personality, focusing on social roles and cultural cues as contextual factors. First, we present our research employing the traditional assessment approach, wherein participants are asked to rate explicitly their personality across several different roles. We argue that this hypothetical approach is potentially susceptible to the influence of stereotypes, social desirability, and demand characteristics. We therefore describe the development of three novel and subtle assessment procedures that are based on obtaining online self‐representations that are activated while occupying a specific context. Finally, the strengths and limitations of all four approaches, as well as directions for future research in the study of contextualized personality, are discussed.
Culture, Context, and Behavior
Authors: Matsumoto David
Published: September 2007

ABSTRACT
In this article I propose a model that posits three major sources of influence on behavior—basic human nature (via universal psychological processes), culture (via social roles), and personality (via individual role identities) and argue that individual behaviors are the products of the interaction between the three. I discuss how culture emerges from the interaction of basic human nature and the ecological contexts in which groups exist, and how social roles are determined by culture‐specific psychological meanings attributed to situational contexts. The model further suggests that situational context moderates the relative contributions of the three sources in influencing behavior. I provide examples of apparent contradictory findings in the study of emotion that can be explained by the model proposed.
Bernard Malamud and the New Life
Authors: TANNER TONY
Published: September 2007

‘We have two lives, Roy, the life we learn with and the life we live with after that Suffering is what brings us toward happiness.’
The accents of Raymond Williams
Authors: PARREWDER PATRICK
Published: September 2007

‘Yet within each of these areas, in increasingly interesting ways, developments are occurring which belong to that convergence…’

‘These profoundly alternative directions are still I believe a matter of complex dispute…’

‘What, then, is English literacy?’
Bad language vs bad prose? Lady Chatterley and The Well
Authors: SCANLON JOAN
Published: September 2007

It was done very openly. It was done very vigorously. Nothing could have been more indecent. But … I had said ‘but’ too often. One cannot go on saying ‘but’. One must finish the sentence somehow, I rebuked myself. Shall I finish it,‘But ‐ I am bored’ But why was I bored? Partly because of the dominance of the letter T and the aridity, which, like the giant beech tree, it casts within its shade.1
Playing an Action Video Game Reduces Gender Differences in Spatial Cognition
Authors: Feng Jing , Spence Ian , Pratt Jay
Published: September 2007

We demonstrate a previously unknown gender difference in the distribution of spatial attention, a basic capacity that supports higher-level spatial cognition. More remarkably, we found that playing an action video game can virtually eliminate this gender difference in spatial attention and simultaneously decrease the gender disparity in mental rotation ability, a higher-level process in spatial cognition. After only 10 hr of training with an action video game, subjects realized substantial gains in both spatial attention and mental rotation, with women benefiting more than men. Control subjects who played a non-action game showed no improvement. Given that superior spatial skills are important in the mathematical and engineering sciences, these findings have practical implications for attracting men and women to these fields.
Self-Construal Priming Modulates Neural Substrates of Self-Awareness
Authors: Sui Jie , Han Shihui
Published: September 2007

We used functional magnetic resonance imaging to assess whether self-construal priming can change adults' self-awareness induced during face perception. After reading essays containing independent or interdependent pronouns (e.g., I or we), participants were scanned while judging the head orientation of images showing their own and familiar faces. Neural activity in the right middle frontal cortex was greater when participants viewed their own rather than familiar faces, and this difference was larger after independent than after interdependent self-construal priming. The increased right frontal activity for participants' own faces relative to familiar faces was associated with faster responses. Our findings suggest that the neural correlates of self-awareness associated with recognition of one's own face can be modulated by self-construal priming in human adults.
Intergroup Contact and Attitudes Toward the Principle and Practice of Racial Equality
Authors: Dixon John , Durrheim Kevin , Tredoux Colin
Published: September 2007

Research on racial attitudes indicates that acceptance of the principle of racial equality is frequently offset by opposition to policies designed to eliminate injustice. At the same time, research on the contact hypothesis indicates that positive interaction between groups erodes various kinds of prejudiced attitudes. Integrating these two traditions of research, this study examined whether or not interracial contact reduces the principle-implementation gap in racial attitudes. The study comprised a random-digit-dialing survey of the attitudes and contact experiences of White and Black South Africans (N = 1,917). The results suggest that among Whites, there remains a stubborn core of resistance to policies designed to rectify the injustices of apartheid. The results also indicate that interracial contact has differential, and somewhat paradoxical, effects on the attitudes of Whites and Blacks toward practices aimed at achieving racial justice.
Signaling Threat
Authors: Murphy Mary C. , Steele Claude M. , Gross James J.
Published: September 2007

This study examined the cues hypothesis, which holds that situational cues, such as a setting's features and organization, can make potential targets vulnerable to social identity threat. Objective and subjective measures of identity threat were collected from male and female math, science, and engineering (MSE) majors who watched an MSE conference video depicting either an unbalanced ratio of men to women or a balanced ratio. Women who viewed the unbalanced video exhibited more cognitive and physiological vigilance, and reported a lower sense of belonging and less desire to participate in the conference, than did women who viewed the gender-balanced video. Men were unaffected by this situational cue. The implications for understanding vulnerability to social identity threat, particularly among women in MSE settings, are discussed.
Defensive Physiological Reactions to Rejection
Authors: Gyurak Anett , Ayduk Özlem
Published: September 2007

We examined the hypothesis that rejection automatically elicits defensive physiological reactions in people with low self-esteem (SE) but that attentional control moderates this effect. Undergraduates ( N = 67) completed questionnaire measures of SE and attentional control. Their eye-blink responses to startle probes were measured while they viewed paintings related to rejection and acceptance themes. The stimuli also included positive-, negative-, and neutral-valence control paintings unrelated to rejection. As predicted, compared with people high in SE, those low in SE showed stronger startle eye-blink responses to paintings related to rejection, but not to negative paintings. Paintings related to acceptance did not attenuate their physiological reactivity. Furthermore, attentional control moderated their sensitivity to rejection, such that low SE was related to greater eye-blink responses to rejection only among individuals who were low in attentional control. Implications of the role of attentional control as a top-down process regulating emotional reactivity in people with low SE are discussed.
Readout From Iconic Memory and Selective Spatial Attention Involve Similar Neural Processes
Authors: Ruff Christian C. , Kristjánsson Árni , Driver Jon
Published: September 2007

Iconic memory and spatial attention are often considered separately, but they may have functional similarities. Here we provide functional magnetic resonance imaging evidence for some common underlying neural effects. Subjects judged three visual stimuli in one hemifield of a bilateral array comprising six stimuli. The relevant hemifield for partial report was indicated by an auditory cue, administered either before the visual array (precue, spatial attention) or shortly after the array (postcue, iconic memory). Pre- and postcues led to similar activity modulations in lateral occipital cortex contralateral to the cued side. This finding indicates that readout from iconic memory can have some neural effects similar to those of spatial attention. We also found common bilateral activation of a fronto-parietal network for postcue and precue trials. These neuroimaging data suggest that some common neural mechanisms underlie selective spatial attention and readout from iconic memory. Some differences were also found; compared with precues, postcues led to higher activity in the right middle frontal gyrus.
Cognitive Dissonance and the Perception of Natural Environments
Authors: Balcetis Emily , Dunning David
Published: September 2007

Two studies demonstrated that the motivation to resolve cognitive dissonance affects the visual perception of physical environments. In Study 1, subjects crossed a campus quadrangle wearing a costume reminiscent of Carmen Miranda. In Study 2, subjects pushed themselves up a hill while kneeling on a skateboard. Subjects performed either task under a high-choice, low-choice, or control condition. Subjects in the high-choice conditions, presumably to resolve dissonance, perceived the environment to be less aversive than did subjects in the low-choice and control conditions, seeing a shorter distance to travel (Study 1) and a shallower slope to climb (Study 2). These studies suggest that the impact of motivational states extends from social judgment down into perceptual processes.
A Language Without Borders: English Slang and Bulgarian Learners of English
Authors: Charkova Krassimira D.
Published: September 2007

This study investigated the acquisition of English slang in a foreign language context. The participants were 101 Bulgarian learners of English, 58 high school students, and 43 university students. The instrument included knowledge tests of English slang terms and questions about attitudes, sources, reasons, and methods employed in learning English as a foreign language slang. The data were analyzed through multivariate analyses of variance, discriminant function analysis, and qualitative analyses. The younger group was significantly associated with the knowledge of vulgar/offensive slang, λ= .374, χ2(12) = 91.47, p < .001. The same group showed a significantly higher appreciation of slang as a way of group belonging and projecting an image of looking cool. Overall, there were quantitative and qualitative differences between the age groups on all variables of interest, which are interpreted in view of sociopsychological factors.
Self‐efficacy of College Intermediate French Students: Relation to Achievement and Motivation
Authors: Mills Nicole , Pajares Frank , Herron Carol
Published: September 2007

The objective of this investigation was to examine the influence of self‐efficacy and other motivational self‐beliefs on the achievement of college intermediate French students (N= 303). Self‐efficacy for self‐regulation was a stronger predictor of intermediate French language achievement than were self‐efficacy to obtain grades in French, French anxiety in reading and listening, and French learning self‐concept. Students who perceived themselves as capable of using effective metacognitive strategies to monitor their academic work time effectively were more apt to experience academic success in intermediate French. Female students reported greater self‐efficacy for self‐regulation, interest, value, and enjoyment in learning about both the French language and culture than did male students, despite the fact that men and women had similar achievement. Findings are interpreted from the perspective of Bandura's (1986) social cognitive theory as it related to foreign language motivation and learning.
Use of Orthographic Knowledge in Reading by Chinese‐English Bi‐scriptal Children
Authors: Cheung Him , Chan Miranda , Chong Karen
Published: September 2007

We tested Chinese‐English bi‐scriptal fourth‐graders on reading aloud and comprehension in Chinese and English and their understanding of some structural principles underlying Chinese orthography. These principles concern phonological and semantic representation in written Chinese. Regressions showed that knowledge about phonological representation predicted reading aloud in both Chinese and English. Understanding of semantic representation predicted reading comprehension only in Chinese. To explain these findings, we argue that although young readers find it natural to interpret orthography as representation of sound in either script, looking for broad meaning cues in orthography is more spontaneous in Chinese than English reading. The present findings support the notion that children generally attempt to extract as much phonological and semantic information as possible directly from print in reading, although in many situations, such information provides only very rough cuing on word pronunciation and meaning.
Investment and Uncertainty: A Theory‐based Empirical Approach*
Authors: Carlsson Mikael
Published: September 2007

This paper provides empirical evidence on the dynamic effects of uncertainty on firm‐level capital accumulation. A novelty in this paper is that the firm‐level uncertainty indicator is motivated and derived from a theoretical model, the neoclassical investment model with time to build. This model also serves as the base for the empirical work, where an error‐correction approach is employed. I find a negative effect of uncertainty on capital accumulation, both in the short run and the long run. This outcome cannot be explained by the model alone. Instead, the results suggest that the predominant mechanism at work stems from irreversibility constraints.
Ticket to trade: Belgian labour and globalization before 19141
Authors: HUBERMAN MICHAEL
Published: September 2007

Standard trade theory, as invoked by political scientists and economists, would anticipate that workers in Belgium, a small Old World country, rich in labour relative to land, were in a good position to benefit from the wave of globalization before 1914. However, wage increases remained modest and ‘labour’ moved slowly towards adopting a free‐trade position. Beginning in 1885, the Belgian labour party backed free trade, but its support was conditional on more and better social legislation. Belgian workers' wellbeing improved in the wave of globalization, but the vehicle was labour and social legislation and not rising wages.
When did Antwerp replace Bruges as the commercial and financial centre of north‐western Europe? The evidence of the Borromei ledger for 14381
Authors: BOLTON J. L. , BRUSCOLI FRANCESCO GUIDI
Published: September 2007

The rise of Antwerp and the decline of Bruges are often seen in terms of a timetable of significant events: the establishment of the English cloth staple in Antwerp in 1421; the arrival of the south German merchants with their silver in the 1460s; and finally the transfer of the Portuguese spice market to the city in 1498. The 1438 ledger of a Milanese bank in Bruges suggests that by then the south Germans were well established at Antwerp and the Scheldt fairs, exporting large quantitites of fustian. It also shows the bank's integrated commercial and financial operation based on Bruges, Antwerp, Bergen, and Middleburg.
Being Independent is a Great Thing: Subjective Evaluations of Self‐Employment and Hierarchy
Authors: BENZ MATTHIAS , FREY BRUNO S.
Published: September 2007

One can be independent, or one can be subject to decisions made by others. This paper argues that this difference, embodied in the institutional distinction between the decision‐making procedures ‘market’ and ‘hierarchy’, affects individual wellbeing beyond outcomes. Taking self‐employment as an important case of independence, it is shown that the self‐employed derive higher satisfaction from work than those employed in organizations, irrespective of income gained or hours worked. This is evidence for procedural utility: people value not only outcomes, but also the processes leading to outcomes.
Mergers in Multidimensional Competition
Authors: DAVIDSON CARL , FERRETT BEN
Published: September 2007

Horizontal mergers are often driven by the desire to exploit R&D complementarities. We investigate the positive features of such a merger when oligopolists compete both in process R&D and on the product market. For a non‐trivial degree of R&D complementarity, we show that the merger has the following intuitively appealing features independently of the strategic variable in market competition: insiders benefit; outsiders are harmed; and insiders end up larger than outsiders. These results contrast with those of traditional models of merger to achieve market power alone, which are known to be counterintuitive and sensitive to the mode of product market competition.
Law and Finance: Common Law and Civil Law Countries Compared—An Empirical Critique
Authors: GRAFF MICHAEL
Published: September 2007

The ‘theory of law and finance’ argues that the common law system provides a better framework for financial development and economic growth than the civil law tradition. This paper identifies a number of problems that cast doubt on the soundness of the empirical basis of this literature. However, this analysis supports the idea that the legal tradition is a major factor in shaping corporate law. In particular, while there is not much evidence that common law countries protect financial investors better than civil law countries I find support for the assumption that financial investors are treated differently across legal families.
HAIR‐COLOUR VARIATION IN THE UNITED KINGDOM*
Authors: SUNDERLAND By E.
Published: September 2007

1. Spectrophotometric curves were obtained for 1000 hair samples of young adult males. The sample was drawn in such a way as to constitute a random sample of England, Scotland and Wales.

2. A number of relatively simple statistical procedures were examined as methods of analysing the distribution of hair shade and hue in this sample.

3. Using these statistics, a study of broad regional differences in hair colour was made.

Thanks are due to the Director of the Light Division, National Physical Laboratory, Teddington, for permission to use the Hardy Spectrophotometer, and to Prof. L. S. Penrose and Dr N. A. Barnicot for assistance in the preparation of this paper. Acknowledgements are also made to the Director of Personnel Research, War Office, for arranging for the samples to be made available
MONOZYGOTIC AND DIZYGOTIC TWIN DIAGNOSIS
Authors: SMITH SHEILA MAYNARD , PENROSE L. S.
Published: September 2007

A method of estimating the probability of dizygotic and monozygotic twin pairs is described. Parent‐child and sib‐sib frequency tables for the ABO, MNS and Rhesus blood‐group systems and formulae for obtaining these tables for the P, Lutheran, Kell, Duffy, Kidd and non‐secretor (or Lewis) systems are given.

Tables of the distribution of differences in total finger ridge count and atd palmar angles are also given.

The probability that a given twin pair is monozygotic is estimated in two worked examples.
BLOOD GROUPS AND FERTILITY IN A JAPANESE POPULATION, WITH SPECIAL REFERENCE TO INTRAUTERINE SELECTION DUE TO MATERNAL‐FOETAL INCOMPATIBILITY
Authors: MATSUNAGA E. , ITOH S.
Published: September 2007

Summary

In order to study whether there is differential fertility between different mating types of ABO, MN and Q systems, an investigation has been carried out on the population samples of two mining town areas, Ashibetsu and Kohnomae in Hokkaido. The material comprises 741 couples in Ashibetsu and 688 couples in Kohnomae. As the areas were found to be homogeneous in regard to the distributions of each blood group as well as of mating types, further analysis was made using the pooled data. It has been revealed that there is no indication of any selective force with respect to MN and Q mating types, while in the classical blood groups there are differences in human fertility between certain mating types.

In the present data two different selective forces have been found in ABO mating types. The first one, arising from maternal‐foetal incompatibility, has been observed in the differential fertility between compatible and incompatible mating groups. The frequencies both of abortions per pregnancy and childless couples in the incompatible matings are, essentially higher than those in the compatible ones. A highly significant reduction in the mean number of living children has been observed in the incompatible matings compared with that in the compatible matings. This selection is operating to reduce the gene ratios of A and B and to increase the gene ratio of O. Mortality rate of the children of heterozygous genotypes incompatible with the mother has been roughly calculated as 21 % in this population.

The other selective force has been observed in the differential fertility within certain compatible mating types. The mean numbers of pregnancies as well as of living children in A x A matings were significantly higher than those in A♀×O♂ and in AB♀×O♂ matings. It has been further revealed that, if compatible matings are divided into two subgroups, the matings in which the father belongs to O group have significantly lower fertility than those matings in which neither parent belongs to O. The effect of this second selection upon gene ratios is in the opposite direction to that of the first one, so that the losses of A and B genes eliminated through incompatibility could be compensated in the population.
THE EFFECT OF PARENTAL AGE, PARITY AND DURATION OF MARRIAGE ON THE TWINNING RATE
Authors: BULMER M. G.
Published: September 2007

1. Italian figures on twin maternities are analysed and it is shown that the dizygotic, but not the monozygotic, twinning rate increases with parity.

2. It is suggested that the increase in twinning rate with age of father for fixed age of mother demonstrable in the U.S.A. and Egypt may be due to the effect of parity.

3. It is shown that the twinning rate is higher among first legitimate maternities conceived in the first 3 months of marriage than among similar maternities conceived either before marriage or later.
Apert's syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases*
Authors: BLANK C. E.
Published: September 2007

Acrocephalosyndactyly may be divided into two main clinical categories: (i) Apert's syndrome, and (ii) atypical acrocephalosyndactyly.

Apert's syndrome can be attributed to a single gene in heterozygous form. On this hypothesis sporadic cases are due to new mutation in the germ cells of one or other parent.

Although it is convenient at present to speak of the syndrome as homogeneous, there are indications, namely, the difference in parental age distribution between sporadic cases with severe developmental deformity of the viscera and sporadic cases without known visceral deformity, that this might not be so.

The incidence at birth of Apert's syndrome is estimated as approximately 1 in 160,000 and that in the general population as 1 in 2,000,000. The difference between these estimates is in part due to lack of ascertainment in the living population and in part due to the high mortality of these patients, particularly in early infancy.

The rate of mutation at the Apert locus is estimated to be 3 times 10‐6 per gene per generation.

There is a marked parental age effect among sporadic cases of Apert's syndrome; this is probably due solely to an increase in father's age.

Apert's syndrome and atypical acrocephalosyndactyly are probably etiologically unrelated.

I am greatly indebted to Prof. Penrose for his interest and guidance throughout this study and especially for his advice on the statistical treatment of the parental age data. Thanks are due to Dr C. A. B. Smith for his guidance on various statistical matters and to Dr D. G. Harnden, Medical Research Council Unit, Harwell, for a report on the chromosomes of case 18. I would like to express my gratitude to the many medical practitioners, specialists and general practitioners, who have helped in the ascertainment and investigation of the patients in this series.
A genetical study of the variations in ABH secretion
Authors: CLARKE C. A. , McCONNELL R. B. , SHEPPARD P. M.
Published: September 2007

1. The sib pair data suggest that the amount of A, B or H antigen secreted by an individual is in part inherited.

2. Most of the inherited component of the variance in antigen secreted appears to be polygenic.

3. The data confirm that group O people secrete more H substance than do group A people who, in turn, secrete more than group B people, and that group AB people secrete least of all. This suggests that there may be a difference between homozygotes and heterozygotes of groups A and B with regard to the amount of H secreted.

4. The ratio of A:H secreted appears to be in part controlled genetically.

5. The distribution of the ratio of A: H substance in group A secretors indicates that many of the so‐called aberrant secretors are really the arbitrarily chosen extremes of a continuous and unimodal distribution of ratios. If this be so, aberrant secretors should be defined as individuals whose A: H or B: H ratio falls more than a given number of standard deviations from the mean of the control group. Such a definition would allow people in different places, using different antisera, to compare their results.

The research has been carried out with the aid of grants from the Medical Research Committee of the United Liverpool Hospitals under the Chairmanship of Lord Cohen of Birkenhead, the Nuffield Foundation and the Medical Research Council. Our thanks are due to our Senior Technician, Mr W. T. A. Donohoe, for his expert serological work. Finally we are grateful to our research assistant, Miss S. M. Manning, who has been invaluable in collecting most of the material and in carrying out all the secretarial work.
Kell types in Down's syndrome*
Authors: GOODMAN HAROLD O. , THOMAS JAMES J.
Published: September 2007

To test for linkage of the Kells locus to the chromosome trisomic in Down's syndrome, 585 mongoloid and 585 non‐mongoloid retardates matched for county of residence were tested. No significant difference in the frequencies of Kell types was detected. The frequency of Kell positives among mongoloids was almost identical to that observed in an independent sample of blood donors drawn from one community in North Carolina. Efforts to detect doasage effects using twofold dilutions of anit‐K and anti‐k were unsuccessful. Though no evidence for linkage was detected, it is recognized that the possibility of linkage has not been absolutely excluded bt only made less probable.
Tissue distributions, substrate specificities and molecular sizes of human peptidases determined by separate gene loci
Authors: RAPLEY SANDRA , LEWIS W. H. P. , HARRIS HARRY
Published: September 2007

1. The distribution of seven different peptidases thought to be determined by separate gene loci has been examined in a variety of human tissues. Although most of them are widely distributed, their relative activities vary from tissue to tissue.

2. The enzymes have been characterized in terms of their electrophoretie mobilities, their patterns of specificity with thirty‐five different substrates, and their molecular sizes as estimated by gel nitration.

3. One of the peptidases (peptidase S) which is not found in red cells but is present in most other tissues has not been previously described. It appears to hydrolyse a somewhat wider range of substrates than the other peptidases, and to have a larger molecular size (c. 245,000).
Inherited variants of human nucleoside phosphorylase
Authors: EDWARDS YVONNE H. , HOPKINSON D. A. , HARRIS HARRY
Published: September 2007

1. A method, for the starch gel electrophoresis of human nucleoside phosphorylase (NP) is described. Multiple NP isozymes were found in most human tissues and the best resolution of these isozymes was achieved by electrophoresis in a buffer system containing lithium ions.

2. Tissue to tissue variation in the complexity of the NP isozyme patterns and the examination of NP isozymes in relatively young red cells, suggest that a primary isozymic form of human NP is modified in vivo with generation of several secondary isozymes. The slowest isozyme is probably the primary form in all tissues, the secondary isozymes have greater anodal electro‐phoretic mobilities. Storage experiments carried out with fibroblasts indicate that in vitro modification of the NP isozyme patterns may also occur.

3. Three electrophoretically different genetically determined variants of NP were found in a survey of red cell lysates from 2178 unrelated individuals; one of them was found twice. Family studies showed that these variants occur in individuals heterozygous for a common allele (NP1) and a variant allele (either NP2, NP3 or NP*) at an autosomal locus.

4. Examination of the NP isozymes in cultured fibroblasts and hair follicle cell extracts obtained from individuals with variant red cell phenotypes suggests that NP has a trimeric structure. In vitro hybridization experiments using a freeze‐thaw‐NaCl technique with mouse and human liver and with calf spleen and human liver NP support this view.

5. The molecular size of human NP by gel filtration chromatography is c. 84,000.
FURTHER FAMILIES SHOWING LINKAGE BETWEEN THE ABO and NAIL‐PATELLA LOCI, WITH NO EVIDENCE OF HETEROGENEITY
Authors: LAWLER SYLVIA D. , RENWICK J. H. , WILDERVANCK L. S.
Published: September 2007

Further linkage data from families manifesting the nail‐patella syndrome are presented. These have been added to the previously published material to test for the presence of heterogeneity between families with respect to the closeness of the linkage between the ABO and the nail‐patella loci. No evidence for heterogeneity in the linkage data has been found. The revised estimate of the recombination fraction is 10.7 %± 2.8 %.

We wish to thank Dr C. A. B. Smith for advice on the statistical analysis. The work in Holland was financed by a special grant from the Medical Research Council and received valuable support from Prof. A. Pondman, Prof. A. Polman in Groningen and from Dr J. J. van Loghem in Amsterdam. There are many others we should like to thank in Holland, particularly Dr F. Gerritzen and Dr L. E. Nijenhuis. We are indebted to Dr A. E. Mourant for most of the antisera used in this investigation and to Drs D. Lehane and P. L. Mollison for supplies of anti‐Fya serum. X‐ray films were made available through the kindness of Drs H. S. Bennett, O. Cooper, A. S. Craner, T. V. Crichlow, B. Z. Jaskmanicki, Prof. S. Keijser, J. H. Smitham and A. C. R. Wakeman. Mr G. R. Fisk and Dr T. W. Callan each allowed us to visit patients under their care and S./Ldr. C. P. Handforth kindly helped by sending blood samples from Singapore. Finally, our greatest thanks are due to the families for their willing oo‐operation.
Testing the significance of risk estimates for the predisposition of heterozygotes to common diseases
Authors: CHASE CHARLES , PINKHAM ROGER , SWIFT MICHAEL
Published: September 2007

A maximum‐likelihood method has been used previously to estimate, from family studies, the relative risk of common disorders for heterozygous carriers of genes for certain autosomal recessive syndromes. In this paper statistical significance of relative risk estimates was evaluated using critical values from computer‐generated sampling distributions of the test statistic. In several practical cases a significance test based on the computer‐generated distribution was more conservative than a test which assumed normality for the sampling distribution.
A recursive algorithm for the calculation of identity coefficients
Authors: KARIGL G.
Published: September 2007

Based on a theory of generalized kinship coefficients a recursive algorithm for the calculation of the coefficient of kinship and all nine condensed identity coefficients for any two individuals with given pedigree is described. Furthermore, the algorithm also permits the calculation of all fifteen detailed coefficients for two individuals neither of whom is an ancestor of the other one. Results for standard as well as highly inbred relationships are given.
Estimation of fixation indices and gene diversities
Authors: NEI M. , CHESSER R. K.
Published: September 2007

Considering the multinomial sampling of genotypes, unbiased estimators of various gene diversity measures in subdivided populations are presented. Using these quantities, formulae for estimating Wright's fixation indices (FIS, FIT, and FST) from a finite sample are developed.
Linkage analysis and family classification under heterogeneity
Authors: OTT JURG
Published: September 2007

Heterogeneity of the recombination fraction may or may not involve a mixture of two groups of elements. For the mixture situation (families with or without linkage between two gene loci), Morton's homogeneity test is compared with another test (Admixture test) with respect to significance level, power, parameter estimation and classification of families. The Admixture test is shown generally to have superior properties in this situation.
Assignment of the haemophilia B (Factor IX) locus to the q26‐qter region of the X chromosome
Authors: BOYD Y. , BUCKLE V. J. , MUNRO E. A. , CHOO K. H. , MIGEON B. R. , CRAIG I. W.
Published: September 2007

Two independent approaches have provided an assignment for the factor IX (Haemophilia B) locus to Xq26–qter, the distal region of the X chromosome long arm. Cloned DNA sequences of the gene were hybridized to restriction enzyme digests of DNA prepared from a series of somatic cell hybrids containing different X‐chromosomal regions and also in situ to prepared metaphase chromosomes.
Inherited thermostability variants of seven enzymes in a Japanese population
Authors: SATOH C. , NEEL J. V. , MIURA A. , UENO C. , ARAKAWA H. , OMINE H. , GORIKI K. , FUJITA M.
Published: September 2007

The frequency of inherited variations in thermostability was investigated in a series of seven enzymes in a Japanese population. Among a total of 5930 determinations, nine variants were encountered. In each instance one parent exhibited a similar finding. It is suggested that this procedure should detect a high proportion of the variants of these enzymes characterized by amino acid substitutions not altering molecular charge. Failure to detect more such thermostability variants is interpreted to mean that electrophoresis not only detects amino acid substitutions altering molecular charge but also a considerable proportion of those that do not alter charge.
Surnames in Sardinia|III. the spatial distribution of surnames for testing neutrality of genes
Authors: ZEI G. , PIAZZA A. , MORONI A. , CAVALLI‐SFORZA L. L.
Published: September 2007

1. A study on heterogeneity of males' surnames over time and space in the island of Sardinia was carried out using data from consanguineous marriages (1800–1970) and telephone directories (1978).

2. Variation of frequency of surnames over time is barely significant and 10 times lower than that over space, which is very highly singificant.

3. For sufficiently frequent surnames the estimate of the Wahlund variance, calculated form χ2 for heterogeneity in space, is independent of the frequency of a surname: this supplies evidence of neutrality in line with that obtained from the frequency distribution of surnames.

4. The Wahlund variance, W (also called FST), decreases regularly as the average size of the area considered (number of individuals per area, N) increases. The estimate of the parameter β in the relation W = KNβ could be of interest for the study of population structure.

5. A correction factor of 1/4 must be made on the surnames' variance in consideration of their haploid unisexual transmission.

6. It is suggested that surnames could provide a baseline for estimating the value of Wahlund variance under random genetic drift and hence evaluating whether a gene behaves as selectively neutral.

7. The distribution of the Wahlund variances obtained from two sets of gene frequency data as compared with that obtained in comparable conditions for surnames in the same areas seems to show that most genes behave as neutral, with the exception of a few, with high W values, which presumably have been under different selection pressures in the area examined.
Recurrence risks in an oligogenic threshold model: the effect of alterations in allele frequency
Authors: KENDLER K. S. , KIDD K. K.
Published: September 2007

The polygenic threshold model assumes that the distribution of the underlying liability is approximately normal. This paper examines the impact of deviations from normality in the underlying liability distribution when the number of loci affecting liability is finite, but large (e.g. 5–10). Skewness and kurtosis of the liability distribution are produced by varying the frequency of pathogenic alleles while population risk of illness is held constant by parallel changes in the threshold of manifestation. For a given population risk of illness, the recurrence risk in relatives varies widely as a function of the shape of the liability distribution. These results raise questions about the accuracy of the polygenic threshold approximation for the calculation of recurrence risks for human ‘polygenic’ disorders.
The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1g21–24
Authors: SWALLOW D. M. , GENDLER S. , GRIFFITHS B. , KEARNEY A. , POVEY S. , SHEER D. , PALMER R. W. , TAYLOR‐PAPADIMITRIOU J.
Published: September 2007

A single hypervariable autosomal gene locus, PUM, codes for a family of mucin‐type glycoproteins present in human urine, and in several other normal and malignant tissues of epithelial origin. These mucins can be detected after electrophoresis using a series of monoclonal antibodies that show a pronounced tumour specificity on immunohistochemistry. Using a recently cloned cDNA, pMUC 10, coding for the core protein of the PUM coded mucins, to probe DNA isolated from a series of human‐rodent somatic cell hybrids, we have assigned the PUM locus to chromosome 1. This assignment was confirmed by in situ hybridization of pMUC10 to lymphocyte metaphase chromosomes and the gene was shown to be located within the region 1g21–24.

We would like to thank Dr. Ellen Solomon and DrMary Davis for supplying us with unpublished information and material from their hybrids, and Mrs Lynne West for help with karyotype analysis. A. K. is supported by the ICRF.
The chromosome 19 linkage group LDLR, C3, LW, APOC2, LU, SE in man
Authors: LEWIS M. , KAITA H. , COGHLAN G. , PHILIPPS S. , BELCHER E. , McALPINE P. J. , COOPLAND G. R. , WOODS R. A.
Published: September 2007

The data establish linkage in both sexes for LDLR:LW (ž= 8.43 at θ= 0.00) and in the male for LDLR:LU (ž= 3.31 at θ= 0.00) and for LW:APOC2 (ž= 3.90 at θ= 0.00) They confirm LDLR:C3 and APOC2:LU linkage in both sexes, and LW:LU linkage in the male. The loci constitute two tightly linked gene clusters, LDLR, C3, LW and APOC2, LU, SE, distinguished by measurable linkage in female meioses within but not between clusters. Argument is supported for a 19p13.2‐cen position for LW and a long arm position for LU and SE.
Familiarity, recessivity and germline mosaicism
Authors: EDWARDS J. H.
Published: September 2007

In man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent‐child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased recurrence risk after a second affected child and no increase in consanguinity.

Another cause of familial disorders with recurrence restricted to sibs which has received little attention is germline mosaicism for a mutation expressed as a dominant. If, for example, an embryonic mutation resulted in half the precursors of the germ cells carrying a mutation with dominant expression, then the proportion of haploid nuclei conveying the mutation, which is the recurrence risk, would be a quarter. If severity precluded reproduction the disorder would tend to be classified as a recessive. While germline mosaicism will rarely be expressed with such a high recurrence risk, the estimation of this risk in rare disorders is difficult due to extreme and unpredictable bias in ascertainment.
Gaucher disease associated with a unique Kphl restriction site: identification of the amino‐acid substitution
Authors: BEUTLER E. , GELBART T.
Published: September 2007

In an earlier survey of the glucocerebrosidase locus using 20 restriction enzymes and a 1039 bp probe we found that 1 of 9 Gaucher disease patients had a unique pattern with KpnI, a pattern that was not observed in any other Gaucher patient or in 31 controls. We have now localized the mutation in this patient to a T → A transversion in nucleotide 764 of the cDNA occurring on one of the two glucocerebrosidase alleles. The presumed abnormality in the other allele has not been identified. The deduced amino‐acid change in the allele with the mutation at nucleotide 764 is a relatively drastic alteration of amino acid 255 from phenylalanine to tyrosine. The genomic DNAs of 31 other Gaucher disease patients (representing 62 Gaucher disease alleles) were examined for this mutation using the polymerase chain reaction. None were found to have this abnormality.