Publications

combined ultrasound and biochemical screening for down's syndrome in the first trimester: a scottish multicentre study.	to evaluate the use of ultrasound measurements of fetal nuchal translucency (nt) obtained in a routine antenatal clinic setting in combination with appropriate biochemical markers as a first trimester screening test for down's syndrome.	2002	12118646
thomas stephenson, dsc, phc, frsedin, fcs: a man of parts.		2002	12138907
the mutation spectrum of hyperphenylalaninaemia in the republic of ireland: the population history of the irish revisited.	phenylketonuric and hyperphenylalaninaemic patients in the population of the republic of ireland were screened for mutations at the human phenylalanine hydroxylase (pah) locus. a composite data set for the island of ireland was generated by merging the findings of this study with extant data for northern ireland. analysis of this data on the basis of the four historic provinces (munster, leinster, connacht and ulster) revealed genetic diversity that is informative in terms of demographic forces ...	2002	12173030
sexual history and epstein-barr virus infection.	to determine the role of sexual contact in transmission of epstein-barr virus (ebv) and occurrence of infectious mononucleosis (im), a cross-sectional study was undertaken of ebv serologic testing and histories of im and sexual behavior among 1006 new students at edinburgh university. prevalence of ebv seropositivity was significantly greater among women (79.2%) than among men (67.4%; p<.001) and among those who had ever been sexually active (82.7%) than among those who had not (63.7%; p<.001). ...	2002	12198605
survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.		2002	12205124
hierarchical statistical modelling of influenza epidemic dynamics in space and time.	an infectious disease typically spreads via contact between infected and susceptible individuals. since the small-scale movements and contacts between people are generally not recorded, available data regarding infectious disease are often aggregations in space and time, yielding small-area counts of the number infected during successive, regular time intervals. in this paper, we develop a spatially descriptive, temporally dynamic hierarchical model to be fitted to such data. disease counts are ...	2002	12228886
epidemiology and economic burden of viral hepatitis: an observational population based study.	to describe the epidemiology and estimate the health resource use of patients with viral hepatitis in tayside, scotland, using record linkage techniques.	2002	11772975
longitudinal study of genital infection by herpes simplex virus type 1 in western scotland over 15 years.		2002	12052804
gift relationships in genetics research.		2002	15971368
the scottish molecular genetics consortium--15 years on.	remarkable advances have been made in recent years in our knowledge of the human genome. genes for disorders such as huntington disease, cystic fibrosis and duchenne muscular dystrophy have been mapped and mutations identified. simple molecular tests are now available for the diagnosis of these and many other conditions. as a result, in the last 15 years the whole new field of molecular pathology has been introduced to the health service of the united kingdom and now there are nearly 40 diagnost ...	2002	12664773
the english diaspora: discovering scotland's invisible migrants - 1945 to 2000.		2002	19489176
anthropometric cartography: constructing scottish racial identity in the early twentieth century.		2001	18459237
acceptability and uptake of a community-based flu immunisation programme.	to evaluate a community based influenza immunisation programme in terms of patients' and primary care professionals' satisfaction and uptake of immunisation.	2001	12664727
human embryonic cloning.		2001	16639815
10th international hugo mutation database initiative meeting, 19 april 2001, edinburgh, scotland.	the 10th international mutation database initiative meeting was held on april 19, 2001, in conjunction with the annual human genome meeting in edinburgh, scotland. key points of the meeting are described here. the bisc waystation was presented as an operational, viable beginning to the solution for the lack of centralized variation collection structures, with a number of possibilities, notably the bisc central database and hgbase, as candidates for storing the data. exploration of new avenues of ...	2001	11668619
sentinel practice-based survey of the management and health of horses in northern britain.	details of the management, feeding, level of activity and routine health care of horses in scotland and the five northernmost counties in england were recorded through a stratified random sample of horse owners who had responded to a previous survey. sixty-eight per cent of the horses were kept where their owners resided, and 32 per cent were kept away from the owner's home. more than 99 per cent were turned out to grazing for at least part of the year and 81 per cent were stabled for at least p ...	2001	11678214
hypermutability at a poly(a/t) tract in the human germline.	poly(a/t) tracts are abundant simple sequence repeats (ssrs) within the human genome. they constitute part of the coding sequence of a variety of genes, encoding polylysine stretches that are important for protein function. assessment of poly(a/t) tract stability is also used to identify microsatellite unstable colorectal cancers, which are characteristic of tumours defective in dna mismatch repair. despite their importance, little is known about the stability of poly(a/t) ssrs in the human germ ...	2001	11691928
regional differences in waiting time to pregnancy among fertile couples from four european cities.	a previous european study found a longer time to pregnancy (ttp) among fertile women from paris compared with women from other western european countries. a co-ordinated, cross-sectional study of pregnant couples from denmark (copenhagen), france (paris), scotland (edinburgh) and finland (turku) was therefore undertaken to assess differences in waiting ttp among couples from these cities.	2001	11726598
sperm morphological defects related to environment, lifestyle and medical history of 1001 male partners of pregnant women from four european cities.	recently, differences in semen quality have been found among the partners of pregnant women from four european cities: turku, copenhagen, edinburgh and paris.	2001	11726600
on being prepared: the influenza pandemic plan.		2001	11732352
frederick knox, younger brother and assistant of dr robert knox: his contribution to "knox's catalogues".	analysis of the material written in the two manuscript volumes known as the "old" and "new" knox catalogues has revealed that most of their contents are in the hand of frederick knox, younger brother of dr robert knox. frederick was employed by dr knox as his research assistant, and prepared detailed lists of the items in his brother's museum collection. he also dissected and prepared human and non-human specimens, many of which were described by dr knox in his numerous publications. as relative ...	2001	11242743
use of confidential hiv data helps convict former prisoner.		2001	11250838
longitudinal cohort study of childhood iq and survival up to age 76.	to test the association between childhood iq and mortality over the normal human lifespan.	2001	11290633
an outbreak of e. coli o157 infection with evidence of spread from animals to man through contamination of a private water supply.	an outbreak of e. coli o157 infection occurred in the highland region of scotland in the summer of 1999. the source of the outbreak was traced to an untreated private water supply. all six cases identified arose in visitors to the area, and most had very limited exposure to the contaminated water. permanent residents on the same supply were unaffected. the e. coli o157 isolates from the water, sheep faeces collected from around the source and the human stool samples were indistinguishable using ...	2001	11293673
prevalence of antibodies to hepatitis c virus, hiv and human t-cell leukaemia/lymphoma viruses in injecting drug users in tayside, scotland, 1993-7.	the prevalence of blood-borne viruses in injecting drug users (idus) in tayside, scotland was determined by testing serum samples from idus who underwent attributable hiv antibody testing during 1993-7. the prevalence of antibodies to hiv was 29/802, (3.6%); to hepatitis c virus (hcv) 451/691, (65.3%); and to human t-cell leukaemia/lymphoma viruses type 1 and 2 (htlv) 0/679, (0.0%). the prevalence of hiv and hcv antibodies were higher in subjects over the age of 25 (p = 0.03 and p = 0.001, respe ...	2001	11293687
effect of combination therapy on immunologic progression of human immunodeficiency virus at a population level.	there is accumulating evidence from clinical trials and cohort studies that highly active antiretroviral combination therapy is effective at halting immunologic and clinical progression of human immunodeficiency virus (hiv). its impact at a population level is less well known because the regimes may be difficult to tolerate and compliance poorer. the authors make use of population data for almost all of the hiv-infected people in scotland in 1997 who were under clinical care and monitor their re ...	2001	11323321
the genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia.	the g-protein coupled metabotropic glutamate receptors (grms/mglurs) have been implicated in the aetiology of schizophrenia as they modulate the nmda response and that of other neurotransmitters including dopamine and gaba.(1-3) electrophysiological studies in grm subtype 5 knockout mice reveal, in one study, a sensorimotor gating deficit characteristic of schizophrenia and in another, a key rôle for this gene in the modulation of hippocampal nmda-dependent synaptic plasticity. in humans, grm5 l ...	2001	11326300
regional differences in semen quality in europe.	recent reports have indicated a decrease in semen quality of men in some countries, and suggested regional differences. a study was undertaken of semen samples from 1082 fertile men from four european cities (copenhagen, denmark; paris, france; edinburgh, scotland; and turku, finland). semen analysis was standardized, inter-laboratory differences in assessment of sperm concentration were evaluated, and morphology assessment centralized. lowest sperm concentrations and total counts were detected ...	2001	11331653
the gender imbalance among speech and language therapists and students.	speech and language therapy is still a predominantly female profession. this paper reports the numbers and percentages of males among the population of student speech and language therapists in the uk in 1999-2000. the numbers imply that there is no prospect of redressing the gender imbalance in the near future. information was gathered by means of a questionnaire to male speech and language therapy students and male therapists on the reasons for their career choice and their occupation-related ...	2001	11340775
a novel mutation in the keratin 13 gene causing oral white sponge nevus.	white sponge nevus (wsn) is an autosomal-dominantly inherited form of mucosal leukokeratosis. defects in keratins, proteins that form the stress-bearing cytoskeleton in epithelia, have been shown to cause several epithelial fragility disorders. recently, mutations in the genes encoding mucosal-specific keratins k4 and k13 were shown to be the underlying cause of wsn. we have studied a large scottish family with 19 persons affected by wsn in four generations. the k4 locus was excluded by genetic ...	2001	11379896
failure to confirm notch4 association with schizophrenia in a large population-based sample from scotland.	the notch4 gene was recently reported to be associated with schizophrenia based on tdt analysis of 80 british trios. the strongest evidence for association derived from two microsatellites. we genotyped both loci in a large sample of unrelated scottish schizophrenics and controls, but failed to replicate the reported association, finding instead that each putative schizophrenia-associated allele had a somewhat lower frequency in schizophrenics than in controls.	2001	11381258
permanent vegetative state and the law.		2001	11511740
identification of polymorphisms within disrupted in schizophrenia 1 and disrupted in schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder.	we have undertaken a search for polymorphic sequence variation within disrupted in schizophrenia 1 and disrupted in schizophrenia 2 (disc1 and disc2), which are both novel genes that span a translocation breakpoint strongly associated with schizophrenia and related psychoses in a large scottish family. a scan of the coding sequence, intron/exon boundaries, and part of the 5' and 3' untranslated regions of disc1, plus 2.7 kb at the 3' end of disc2, has revealed a novel microsatellite and 15 novel ...	2001	11525420
ethical approval for research involving geographically dispersed subjects: unsuitability of the uk mrec/lrec system and relevance to uncommon genetic disorders.	to assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder.	2001	11579194
daughter of charity.	members of religious orders, male and female, take the three vows of religion--poverty, chastity and obedience. to renounce one's rights to personal possessions, to sexual experience and family life and in determining one's own future may, on initial examination, appear somewhat negative. however, priests, brothers and nuns in religious orders, are encouraged to adopt a more positive attitude in taking the vows. by relinquishing their rights to personal property and to procreate, and by acceptin ...	2001	12143447
hiv/aids. man 'deliberately infected' girlfriend.		2001	11954226
every man his own farrier in australia: the origins and growth of a veterinary business in colonial new south wales.	the life and work is told of john pottie (1832-1908), a scotsman who graduated from edinburgh veterinary college in 1858. a year later, he contracted to provide veterinary care to a consignment of horses bound for australia. once there, he founded a firm that has survived to the present day, still marketing products that originated in his own veterinary remedies. john pottie brought with him a european tradition of livestock care and treatment that was epitomised in clater's title and book, ever ...	2000	12068832
adults with incapacity (scotland) act 2000--excerpt.		2000	11842859
scotland facing worst flu outbreak for six years.		2000	10634726
effects of influenza vaccination of health-care workers on mortality of elderly people in long-term care: a randomised controlled trial.	vaccination of health-care workers has been claimed to prevent nosocomial influenza infection of elderly patients in long-term care. data are, however, limited on this strategy. we aimed to find out whether vaccination of health-care workers lowers mortality and the frequency of virologically proven influenza in such patients.	2000	10675165
the effect of dietary trans alpha-linolenic acid on plasma lipids and platelet fatty acid composition: the transline study.	to collect (i) baseline data and (ii) execute a large multicentre study examining the effect of trans alpha-linolenic acid on its incorporation into plasma lipids and on risk factors for coronary heart disease.	2000	10694780
public health implications of new guidelines for lead in drinking water: a case study in an area with historically high water lead levels.	concern about the neurotoxicity of lead, particularly in infants and young children, has led to a revision of blood lead levels which are considered to involve an acceptable level of human exposure. drinking water guidelines have also been reviewed in order to reduce this source of population exposure to lead. in the last 20 years, guidelines have been reduced from 100 to 50 to 10 microg/litre. lead in tap water used to be a major public health problem in glasgow because of the high prevalence o ...	2000	10717374
uk's position on human cloning provokes hostile reaction in europe union.		2000	10776759
effects of influenza vaccination of health care workers on mortality of elderly people.		2000	10778830
lack of linkage between chromosome 5q23-33 markers and ige/bronchial hyperreactivity in 67 scottish families.	raised serum immunoglobulin e (ige) and bronchial hyperreactivity (bhr) are risk factors for the expression of the asthma phenotype. previous studies have reported evidence for linkage between these traits and markers on the 5q23-33 cytokine gene cluster.	2000	10848917
verocytotoxin-producing escherichia coli: a veterinary view.	this overview places verocytotoxin-producing escherichia coli (vtec) in perspective with other e. coli types that cause disease in animals. vtec o157 and other verocytotoxin-producing serotypes cause severe disease in man but to date, although other vtec are found in animals, zoonosis appears to be associated with e. coli o157 only. the epidemiology of e. coli o157 in cattle has been studied in scotland, and this work is described alongside current knowledge.	2000	10880177
the effects of multimedia communication technology on non-collocated teams: a case study.	collaborative teams are becoming increasingly important for industry, both within and across companies. there is a need for communication technology to support teams because many teams are non-collocated, or 'virtual'. two automotive supply chain teams were observed while they were experimenting with multimedia conferencing in order to determine what support non-collocated teams need and the potential effects of introducing technologies on their group processes. the observations included meeting ...	2000	10975182
a longitudinal survey of the evolution of some cardiovascular risk factors during the careers of male firefighters retiring from strathclyde fire brigade from 1985-1994.	this paper is based on a retrospective survey of the cardiovascular risk factor records of 526 wholetime male firefighters retiring from strathclyde fire brigade during the decade beginning 1 january 1985 who had accumulated 14,022 man-years of service. changes in body mass index (bmi) and systolic & diastolic blood pressure (s&dbp) were observed from enlistment and through the triennial routine medical examinations (rme) which took place from age 40 to retirement, usually occurring after age 50 ...	2000	10986742
sir william osler and john hunter.	"john hunter ..... the man in whose phenomenal personality may be seen all the distinctive traits of modern medicine, and the range of whose mighty intellect has had few, if any, equals since aristotle".	2000	10986745
genital herpes simplex typing in genitourinary medicine: 1995-1999.	retrospective study of all culture-positive first episode genital herpes (hsv) presenting to genitourinary medicine (gum) over a 4-year period, showing a high prevalence of type 1 (71%) hsv infection, most marked in women. this has implications for counselling patients and for the use of type-specific serological testing.	2000	10990333
rapid virological surveillance of community influenza infection in general practice.		2000	10999907
haemophilia care in central scotland 1980-94. i. demographic characteristics, hospital admissions and causes of death.	to estimate the resources required to manage patients with haemophilia in scotland, we studied the demographic features, hospital admissions and causes of deaths for individuals with haemophilia a and b and von willebrand disease, treated with blood products, during the period 1980-94 living in central scotland. data were obtained from 413 adults and children (93% ascertainment). the age distribution in 1980 revealed a paucity of individuals over 60 years but the number in this age group increas ...	2000	11012692
a longitudinal study of hpv detection and cervical pathology in hiv infected women.	to monitor the presence and persistence of high risk (hr) human papillomavirus (hpv) in cervical brushings from hiv infected women.	2000	11026879
human leucocyte antigen-a2 increases risk of alzheimer's disease but does not affect age of onset in a scottish population.	the use of non-steroidal anti-inflammatory drugs has been associated with a reduced incidence of alzheimer's disease (ad), suggesting that attenuation of the inflammatory response may be beneficial. several, but not all, genetic association studies have shown human leucocyte antigen (hla)-a2, a major histocompatibility complex class i antigen-binding transmembrane protein has an increased frequency in ad compared to controls, and in some reports is associated with a lowered age of onset. we furt ...	2000	11044581
aberrant rna splicing in the hmsh2 gene: molecular identification of three aberrant rna in scottish patients with colorectal cancer in the west of scotland.	blood samples from 47 unselected patients with colorectal cancer were used as a source of hmsh2 mrna. we identified three new hmsh2 aberrant mrnas including: 1) ivs15 +5 g-->c resulting in exon 15 skipping from transcript; 2) an mrna deletion of exons 2 to 6 inclusive; and 3) an mrna deletion of exons 2 to 8 inclusive. in order to find out whether or not exon skipping is a natural consequence of alternative mrna splicing, total rna from 20 healthy individuals was converted to cdna by reverse-tra ...	2000	11074494
population carrier frequency of hmsh2 and hmlh1 mutations.	knowledge of population carrier frequency for dna mismatch repair (mmr) gene mutations would contribute to understanding the burden of cancer due to genetic susceptibility, but robust prevalence estimates are lacking. to estimate carrier frequency, we genotyped a cohort of relatives of mutation carriers and determined their colorectal cancer prevalence. systematic finnish and us data were combined with scottish genotype and cancer prevalence data in a bayesian calculation. the estimated carrier ...	2000	11104559
differences in intestinal humoral immunity between healthy volunteers from uk and bangladesh.	intestinal morphology has been shown to vary geographically. the impact of this variation on gut mucosal humoral immunity is not well-studied. the technique of peroral whole-gut lavage (wgl) with nonabsorbable cleansing fluid can be utilized for the study of gut immune responses in health and disease. in this study, the wgl technique was employed to compare various gut humoral immune parameters in healthy volunteers from dhaka in bangladesh and edinburgh, uk.	2000	11111774
capture-recapture: a useful methodological tool for counting traffic related injuries?	although the capture-recapture technique is increasingly employed in studies of human populations to correct for under-ascertainment in traditional epidemiological surveillance, it has rarely been used in injury research.	2000	11144633
robert knox md, frcsed, frsed 1791-1862: the first conservator of the college museum.	in 1791, the year in which mozart died, there was born in edinburgh a man who had some of the attributes of genius and whose name, but for a trivial mischance, might today occupy a distinguished place in the illustrious history of the edinburgh medical school. instead of this, his career was shattered and his reputation blighted forever by fortuitous association with a gruesome and macabre scandal the story of which is as shocking today as it was to our forebears 172 years ago. to the world at l ...	2000	11153431
cyp3a4 promoter variant in saudi, ghanaian and scottish caucasian populations.		2000	11186137
allele associations reveal four prominent haplotypes at the human interleukin-6 (il-6) locus.	we have examined four polymorphic elements in the human interleukin-6 (il-6) locus and described their allele distribution in 73 unrelated, healthy individuals from the west-of-scotland. these comprised three single nucleotide polymorphisms (snp) in the 5' promoter region of the gene and one vntr in the 3' region of il-6. a statistical consideration of the relationship between alleles at each locus was carried out. of a total of 12 possible haplotypes observed in the population, the analysis sug ...	2000	11196676
a polymorphic microsatellite marker in the human p55 tnf receptor, cd120a.	we provide characterization of a highly polymorphic dinucleotide repeat in the human tnf-receptor 1 gene (tnfr1, tnfrp55, cd120a). we have observed 11 alleles at this locus in individuals from the west of scotland. in a panel of healthy, unrelated individuals from the west of scotland (n = 143), the overall heterozygosity was 68%, indicating the potential usefulness of these markers in immunogenetic studies.	2000	11196717
intestinal protozoa in homosexual men in edinburgh.	our objective was to determine the prevalence of intestinal protozoa in homosexual men attending a sexually transmitted diseases (std) clinic, to compare it with the prevalence in a previous study from the same clinic, and to examine the relationship, if any, between the presence of protozoa and sexual practices. men who consecutively attended the clinic and who gave a history of having had recent sexual contact with another male were invited to provide a stool sample for protozoological examina ...	1999	10639057
molecular evidence for heterogeneity of the multiple-drug-resistant mycobacterium tuberculosis population in scotland (1990 to 1997).	multiple-drug-resistant mycobacterium tuberculosis (mdr-mtb) has been well studied in hospitals or health care institutions and in human immunodeficiency virus-infected populations. however, the characteristics of mdr-mtb in the community have not been well investigated. an understanding of its prevalence and circulation within the community will help to estimate the problem and optimize the strategies for control and prevention of its development and transmission. in this study, mdr-mtb isolate ...	1999	10074516
molecular typing of salmonella serotype thompson strains isolated from human and animal sources.	one-hundred-and-thirteen isolates of salmonella serotype thompson from diverse sources in seven countries were characterized by pvuii ribotyping and is200 fingerprinting. ten pvuii ribotypes were observed. the predominant pvuii ribotype 1 represented a major clone of world-wide distribution but was not found in australia; pvuii ribotypes 2 and 3 represented minor clones. hincii ribotyping discriminated subtypes within pvuii ribotype 1: hincii ribotype 1 was distributed widely but hincii ribotype ...	1999	10098783
observations on some of the plates used to illustrate the lymphatics section of andrew fyfe's compendium of the anatomy of the human body, published in 1800.	an engraving displaying a general view of the absorbent system was used as one of many plates illustrating the lymphatics section of andrew fyfe's compendium of the anatomy of the human body published in 1800. it is a scaled-down version of a life-size engraving displayed in the museum of the department of anatomy at the university of edinburgh, and is based on a cadaver specially dissected and injected with mercury in 1788 by alexander monro secundus, probably with the assistance of fyfe, who w ...	1999	9890727
estimation of injecting drug users in the city of edinburgh, scotland, and number infected with human immunodeficiency virus.	to estimate (1) the number of current and former injecting drug users (idu) infected with human immunodeficiency virus (hiv) alive in edinburgh, and (2) the total number of current injectors in the city.	1999	10195675
clinical follow-up of high mid-trimester maternal serum intact human chorionic gonadotrophin concentrations in singleton pregnancies.	mid-trimester biochemical screening of 38 143 pregnancies in south-east scotland revealed 127 cases (0.34 per cent) in which the maternal serum (ms) intact human chorionic gonadotrophin (hcg) concentration was > or = 4 multiples of the median in singleton pregnancies (mom). three were lost to follow-up but in 72 (58 per cent) complications developed or there were associated fetal abnormalities. this percentage was greatest at very high hcg concentrations, 92 per cent with hcg > or = 10 mom (n = ...	1999	10210119
familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).	familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of potassium (k) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. the red blood cells show a reduced lifespan in vivo but there is no frank hemolysis. studies of cation content and transport show a marginal increase in permeability at 37 degrees c and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydra ...	1999	10216110
the "sins" of the fathers: self-healing squamous epithelioma in scotland.	a review is presented of the recent progress made in mapping of the hereditary skin disease "ferguson-smith multiple self-healing squamous epithelioma."	1999	10366398
a protective role for common p21waf1/cip1 polymorphisms in human ovarian cancer.	the objective of this study was to compare the frequency of two common p21waf1/cip1 gene polymorphisms in ovarian cancer patients with that in age-matched controls, from a population originating from eastern scotland. both polymorphisms were found significantly less frequently in both the constitutive and tumour tissue dna of ovarian cancer patients (3/65; 4.6%), than in that from geographically and age-matched controls (25/186; 13.4%) (p=0.0495, chi2). furthermore, we found no p21waf1/cip1 gene ...	1999	10375603
detecting qtls for uni- and bipolar disorder using a variance component method.	the objective of this study was to use a robust variance component method to analyse unipolar and bipolar disorder in a large scottish extended family (n = 168) in which linkage between markers and disease has been previously reported on the short arm of chromosome 4. data consisted of diagnosed clinical uni- or bipolar disorder on 143 individuals, with microsatellite marker information on 109 of these individuals. the incidence of unipolar and bipolar disorder in the family was 17/143, and 11/1 ...	1999	10412186
association study of the cacn1a4 (sca6) triplet repeat and schizophrenia.	the p/q type ca2+ channel alpha 1-subunit (cacn1a4) gene on chromosome 19p13 is a promising candidate susceptibility locus for schizophrenia. point mutations in cacn1a4 cause familial hemiplegic migraine and episodic ataxia. expansion in a coding 3' cag repeat causes spino-cerebellar ataxia type 6 (sca6). the mouse mutant phenotype totterer has a form of petit-mal epilepsy. these are neurological conditions, all of which exhibit features in common with schizophrenia. the 19p13 area is also paral ...	1999	10412193
the molecular basis of malonyl-coa decarboxylase deficiency.	we characterized a 2.1-kb human cdna with a 1362-bp (454-amino acid) open reading frame showing 70.3% amino acid identity to goose malonyl-coa decarboxylase (mcd). we have identified two different homozygous mutations in human mcd (hmcd) by using rt-pcr analysis of fibroblast rna from two previously reported consanguineous scottish patients with mcd deficiency. the first mutation is a 442c-->g transversion resulting in a premature stop codon (s148x) in the n-terminal half of the protein. the sec ...	1999	10417274
a six year study of the antenatal detection of fetal abnormality in six scottish health boards.	to assess the sensitivity of prenatal diagnosis by ultrasound and biochemical methods, to evaluate the reasons for non-detection and to make appropriate recommendations.	1999	10426638
abortion, relationship, and property in labor: a clinical case study.		1999	10513301
hume on the nonhuman animal.	hume wrote about fundamental similarities and dissimilarities between human and nonhuman animals. his work was centered on the cognitive and emotional lives of animals, rather than their moral or legal standing, but his theories have implications for issues of moral standing. the historical background of these controversies reaches to ancient philosophy and to several prominent figures in early modern philosophy. hume develops several of the themes in this literature. his underlying method is an ...	1999	10517296
looking to hume for justice: on the utility of hume's view of justice for american health care reform.	this essay argues that hume's theory of justice can be useful in framing a more persuasive case for universal access in health care. theories of justice derived from a rawlsian social contract tradition tend to make the conditions for deliberation on justice remote from the lives of most persons, while religiously-inspired views require superhuman levels of benevolence. by contrast, hume's theory derives justice from the prudent reflections of socially-encumbered selves. this provides a more acc ...	1999	10517298
hume's influence on john gregory and the history of medical ethics.	the concept of medicine as a profession in the english-language literature of medical ethics is of recent vintage, invented by the scottish physician and medical ethicist, john gregory (1724-1773). gregory wrote the first secular, philosophical, clinical, and feminine medical ethics and bioethics in the english language and did so on the basis of hume's principle of sympathy. this paper provides a brief account of gregory's invention and the role that humean sympathy plays in that invention, wit ...	1999	10517300
first outbreak of influenza in the united kingdom this season hits orkney.		1999	10520566
management of symptomatic bph in the uk: who is treated and how?	to review the contemporary management of symptomatic benign prostatic hyperplasia (bph) in the united kingdom (uk).	1999	10559629
a sense of time and place--meeting report of hugo spatial organisation of the genome workshop, edinburgh, 14-15 may 1999. human genome organisation.		1999	10560965
uptake of calcium and magnesium by human scalp hair from waters of different geographic locations.	the uptake of ca2+ and mg2+ by human scalp hair from waters of 24 different locations throughout the world was determined. the uptake was found to vary markedly depending on the initial total hardness and ph of the water. water of high initial total hardness and/or high initial ph were found, in general, to result in more hair adsorption of these alkaline earth cations. when hair is washed with these differing waters, varying effects are then found in the eventual coiffure.	1999	10570842
association between variants at the gabaabeta2, gabaaalpha6 and gabaagamma2 gene cluster and alcohol dependence in a scottish population.	a role for the gaba/benzodiazepine receptor complex in alcohol dependence syndrome has been suggested by several lines of evidence. to elucidate the role of gabaa subunits in human alcohol dependence syndrome, we identified polymorphisms in the gabaabeta2 and gabaaalpha6 receptor subunit genes on 5q33 and assessed their potential contribution in an association study, together with a ncii rflp at the gabaagamma2 receptor subunit gene. one hundred and eight alcohol-dependent subjects and 54 unrela ...	1999	10578235
robert liston: surgeon extraordinary.	robert liston was probably the best surgeon in his day, being noted for his skill and his speed as an operator. his life as surgeon, teacher and writer have been reviewed. examples of some of his cases are given to illustrate the outstanding ability of this man in the pre-anaesthetic era.	1999	10613288
guidelines for researchers: patient information sheet and consent form.		1999	11657984
scots will protect the mentally incapacitated: excerpts from the scottish executive white paper, making the right moves: rights and protection for adults with incapacity, 1999.		1999	11657990
monitoring of approved research by a scottish lrec: two questionnaires.		1999	15584154
modelling human immunodeficiency virus infection and acquired immune deficiency syndrome cases in scotland: data sources, prior information and bayesian estimation.	"the paper describes the methodology developed to carry out predictions of the acquired immune deficiency syndrome (aids) epidemic in scotland. information on the human immunodeficiency virus (hiv) epidemic comes from formal case reports of aids cases and hiv positive tests, reports from surveillance schemes and from special studies. these sources of information, up to the end of 1994, are reviewed.... a simple model of the hiv epidemic in scotland is proposed and the information is summarized ...	1998	12348726
epidemiology of epstein-barr virus infection in pre-adolescent children: application of a new salivary method in edinburgh, scotland.	to describe the epidemiology of epstein-barr virus (ebv) among primary school children by testing saliva with a new ebv capsid antigen "g" antibody capture radioimmunoassay (gacria).	1998	9578856
factors affecting the lifespan of the human dentition in britain prior to the seventeenth century.	to confirm that compensatory eruption (supereruption) of teeth past a stable periodontium occurs in response to severe occlusal attrition.	1998	9581041
do not confuse the bone loss of periodontitis with root exposure due to supereruption. factors affecting the lifespan of the human dentition in britain prior to the seventeenth century.		1998	9606077
the immunology of canine leishmaniosis: strong evidence for a developing disease spectrum from asymptomatic dogs.	asymptomatic mixed breed dogs (49) from a region of high incidence of visceral leishmaniosis in portugal were examined for the presence of leishmania-specific cellular immunity using a proliferation assay and humoral immunity using an indirect antibody fluorescent test (ifat) and an elisa. the results were compared directly with 25 mixed breed dogs permanently residing in a non-endemic region (scotland). unlike similar studies in humans from non-endemic areas, there was no evidence of any immuno ...	1998	9615951
balancing restriction and freedom in the care of people with intellectual disability.	the case of a 50-year-old man with severe intellectual disability is described. after 20 years of institutional care, the subject was moved to a newly opened community group home. his physical and mental health deteriorated at this location after unproven allegations of sexual abuse which had taken place whilst he had been living in the institution. although the subject's health continued to deteriorate, there was resistance to his readmission to the same hospital for assessment. he had always n ...	1998	9617703
genetics of psoriasis: paternal inheritance and a locus on chromosome 6p.	the pathogenesis of psoriasis is not fully understood, but population and twin studies suggest a large heritable component to the etiology. several large population studies have also suggested a parental sex effect. since 1994, three main genetic loci (on chromosomes 17q, 4q, and 6p) have been reported in genome scans. with a view to elucidating the genetic basis of psoriasis, we have carried out linkage analysis in a large number of families with well-characterized psoriasis. from a cohort of 1 ...	1998	9620305
sexual transmission of gb virus c/hepatitis g virus.	although it is established that infection with gb virus c (gbv-c) or hepatitis g virus (hgv) can be transmitted parenterally, the prevalence of gbv-c/hgv viremia in the general population (2-5%) is relatively high compared with other parenterally borne viruses such as hepatitis c virus. to investigate the possibility of sexual transmission of gbv-c/hgv, we determined the frequency of viremia by the polymerase chain reaction and serological reactivity to the e2 protein by elisa in samples collect ...	1998	9624607
a tribute to the late hans w. kosterlitz: ploughing the lone furrow.	hans kosterlitz was a quiet, rather modest man, who was greatly respected, both as a scientist and as a person of real courage, honour, judgement, polite manners, and inflexible integrity of conduct and consistency of principle. his deep sense of social responsibility and his concern about making a worthwhile contribution for the benefit of mankind were reflected in his choice of research topics, in a career spanning more than 65 years. his major research interests were also exceptionally wide r ...	1998	9673787
human alpha-adducin gene, blood pressure, and sodium metabolism.	the adducin genes contribute significantly to population variation in rat blood pressure and cell membrane sodium transport. the 460trp mutation of the human alpha-adducin gene has been associated with hypertension, in particular hypertension sensitive to sodium restriction. we studied the relationship between the 460trp mutation and population variation in blood pressure and sodium metabolism. from 603 scottish families, we selected 151 offspring and 224 parents with blood pressures in either t ...	1998	9674650
ttv a common virus, but pathogenic?		1998	9683201
do inhibitors of angiotensin-i-converting enzyme protect against risk of cancer?	previous studies have reported an increased risk of cancer with calcium-channel blockers in man. other work in animals suggests that inhibitors of angiotensin-i-converting enzyme (ace) protect against cancer. we aimed to assess the risk of cancer in hypertensive patients receiving ace inhibitors or other antihypertensive drugs.	1998	9683206