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Biomedical subjects

L H Breimer

Publications and source records attributed to L H Breimer.

At least 19 recordsLinked to original sources
PubMed1995

A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot.

Molecular analysis of the human tyrosinase gene in two patients suffering from a temperature-sensitive form of albinism has identified a thymine triplet deletion at codon 439 which is accompanied by a duplication of the immediately preceding cytosine residue. This results in a two base pair frame shift leading to premature termination at codon 448, giving a truncated protein. Its relationship to other mutations in tyrosinase and the possible cause are discussed. The temperature-sensitive phenotype is due to the guanine to adenine mutation at codon 422, known to generate a temperature-sensitive enzyme. The CTTT at F439 in tyrosinase is also present at F508 in CFTR, the main mutation causing cystic fibrosis.

Adolescent↗
PubMed1995

A computer-based international 'thesis-line'?

Doctoral theses represent a largely inaccessible mine of useful information. There is no simple way of finding out whether someone in another institution has written a thesis that is relevant to your own work, or of reading it. Here, we describe how this situation could be remedied by making theses freely available and easy to search in an international 'Thesis-Line' accessible through the Internet.

Academic Dissertations as Topic↗
PubMed1995

Serum bilirubin and risk of ischemic heart disease in middle-aged British men.

The possibility that low concentrations of serum bilirubin may be associated with increased risk of ischemic heart disease has been examined in a prospective study of 7685 middle-aged British men. During 11.5 years there were 737 major ischemic heart disease (IHD) events. A U-shaped relationship was observed between serum bilirubin and risk of IHD. Low bilirubin was associated with several cardiovascular risk factors, in particular smoking, low concentrations of high-density lipoprotein cholesterol, low forced expiratory volume in 1 s, and low serum albumin. The U-shaped relationship persisted even after adjusting for several risk factors. Compared with men in the lowest fifth of the distribution (bilirubin < 7 mumol/L), those in the middle range (8-9 mumol/L) showed a 30% reduction in relative risk [RR = 0.68 (95% confidence intervals 0.51-0.89)] in IHD, whereas men in the top fifth (> 12 mumol/L) showed similar risk to the lowest fifth [RR = 0.99 (95% confidence intervals 0.73-1.34)], which persisted after exclusion of men with bilirubin > 17 mumol/L. The significance of this U-shaped relationship is unclear, but it could be interpreted as support for the role of endogenous antioxidants in the etiology of IHD.

Adult↗
PubMed1994

Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

Direct DNA sequence determination of PCR amplified exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the initiating methionine codon into a valine codon thereby abolishing translation; (2) a thymine to cytosine transition at codon 370 changes a methionine to a threonine residue; (3) a cytosine to thymine transition at codon 367 changes a histidine to a tyrosine residue. A codon 402 change previously considered a polymorphism is assigned a pathological role.

Adult↗
PubMed1994

Unified European higher medical degrees.

Unequal access to higher medical degrees, which are important for career advancement, is a problem that is likely to plague UK medicine as integration within Europe proceeds. This paper analyses the characteristics of M.D.s at the Royal Free Hospital School of Medicine and proposes a solution of creating a common European doctorate.

Academic Dissertations as Topic↗
PubMed1993

Towards a doctoral thesis through published works.

Doctoral theses submitted in medical schools under a system dependent on publications (Sweden) and one which was not (UK) were compared. A subset consisting of UK theses containing papers (about 1/3 of all UK theses) was used. The publication-based theses gave candidates a significantly higher (P < 0.03) profile in terms of key authorship positions. Nevertheless, in 66% of the UK theses with papers the candidate was either the first or sole author. Swedish and UK theses with papers were of equal quality when assessed by the number of papers in journals: a) ranked in the top 100 (14% vs 10%) or 200 (26% vs 32%); or b) used more than once and either ranked in the top 1000 (median 224 vs 218) or in the top two thirds by subject section (98 vs 100%). UK theses benefitted from the greater impact of journals emanating from the UK compared to continental Europe (P < 0.001). An estimated 13% of UK PhD theses overall included three or more papers per thesis despite no requirement of publication. A publication-based doctorate should be introduced on trial in parallel with the existing systems to ensure efficiency and international comparability.

Abstracting and Indexing↗