Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women

Aim: Genetic thrombophilias are known to contribute to adverse pregnancy outcomes. Studies in Western populations show that 5, 10-methylenetetrahydrofolate reductase (MTHFR) 677C>T and Factor V (F5) 1691G>A (Leiden) polymorphisms are commonly associated with pre-eclampsia and recurrent spontaneous pregnancy loss. The objective of this study was to investigate the association of MTHFR 677C>T (rs1801133); 1298A>C (rs1801131) and F5 1691G>A (rs6025); 4070A>G (rs1800595) polymorphisms with pre-eclampsia and recurrent pregnancy loss among Sinhalese women in Sri Lanka. Material and Methods: Genotype and allele frequencies at each polymorphic site in the MTHFR and F5 genes and the haplotypes defined by them were determined in 175 Sinhalese women with pre-eclampsia, 171 normotensive controls, 200 Sinhalese women with two or more recurrent pregnancy losses and 200 controls with two or more living children and no pregnancy losses. Genotyping was done by polymerase chain reaction/restriction fragment length polymorphism. Odds ratios and χ(2) -testing were performed to compare genotype/haplotype frequencies at each polymorphic site for both cases and controls. Results: The genotype frequencies at each polymorphic site in the MTHFR 677C>T; 1298A>C; F5 1691G>A and 4070A>G genes and the haplotypes defined by them were not significantly associated with either pre-eclampsia or recurrent pregnancy loss. There was no significant association of genetic thrombophilia with either early or late pregnancy losses. Conclusions: The MTHFR and F5 polymorphisms and the haplotypes defined by them were not significantly associated with either pre-eclampsia or recurrent pregnancy loss in this group of Sinhalese women.     

Unexplained absence of an ovary and uterine tube

A case is reported of an incidental laparotomy finding of absence of left ovary and ipsilateral distal Fallopian tube. This is the fourth case to be reported in the English language literature. The three previous cases are reviewed and the probable aetiology discussed.     

Phase lag and lead weighting in linear-quadratic control

The effect of introducing a first order lag or lead weighting function into an otherwise conventional linear-quadratic optimization problem is examined. Properties of the optimal compensator are derived, and the effect on robustness of the optimal system in different frequency ranges is examined.     

Stilboestrol and vaginal clear-cell adenocarcinoma syndrome

A vaginal clear-cell adenocarcinoma developed in a young woman who had been exposed in utero to maternal stilboestrol treatment. During 1940-71 in the UK some 7500 women were given stilboestrol during pregnancy. Thus more cases are likely to appear and clinicians caring for young women should be alert to this possibility.     

Musculoskeletal examination—an ignored aspect. Why are we still failing the patients?

Over the past two decades, rheumatologists from around the world have not only championed the musculoskeletal system examination but also modified the undergraduate teaching curriculum. This has led to the development and adoption of the gait, arms, legs and spine (GALS) screening along with regional examination techniques. The purpose of this study is to review current practice, determining the frequency of patient exposure to appropriate examination and confidence of junior doctors when dealing with MSK conditions. Two district-general hospitals (non-teaching) and one teaching hospital in North-East London were chosen. At each site, 50 patient notes were reviewed from the acute admission wards for medicine and surgery and the medical assessment unit. Factors considered included whether GALS screenings had taken place, documentation of MSK examinations and assessment of confidence of junior doctors in assessing MSK conditions. GALS screenings were performed for 4% of patients on the medical assessment unit, 7% of acute medical and 0% of acute surgical patients on admission. Examination of the MSK system yielded better results with 16%, 22% and 10% on each of the respective wards. Interviews with junior doctors found 10% routinely screening for MSK conditions, despite 87% feeling confident in taking MSK histories. This prospective audit of clinical practice highlights that patients failed to have a minimal assessment of the MSK system through GALS screenings. When examining the MSK system, results were somewhat better, although still fewer than expected. It is curious that the majority of junior doctors in training felt confident in dealing with MSK disease but few did it in practice. This begs the question of whether current teaching curricula and strategies are adequate. At a time where there is ever-increasing national momentum to address issues on obesity and cardiovascular health, our patients are still deprived of a standard MSK examination by the medical faculty.