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Biomedical subjects

M D Gillmer

Publications and source records attributed to M D Gillmer.

At least 19 recordsLinked to original sources
PubMed1997

UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients.

Some patients with Type 2 (non-insulin-dependent) diabetes mellitus possess a mitochondrial mutation in the tRNA(Leu(UUR)) gene at position 3243 bp. These subjects show a maternal mode of inheritance and often have hearing defects. In French and Japanese populations, this mutation may be present in 1-3% of subjects with a family history of diabetes. We assessed the prevalence of this mutation in newly diagnosed diabetic subjects in the UK white Caucasian population. The 3243 bp mutation was not detected in 500 randomly selected Type 2 diabetic subjects, 50 gestational diabetic subjects, and members of a MODY pedigree. Two of 748 (0.27%) Type 2 diabetic subjects with a family history of diabetes were found to possess the mutation. These subjects had an early age of diagnosis (M 38 years; F 36 years) and were non-obese. The male patient showed evidence of markedly impaired beta-cell function and deafness, while the female was not deaf, had approximately 50% of normal pancreatic function and responded well to diet. The mutation in the tRNA(Leu(UUR)) gene probably occurs in only approximately 0.1-0.2% of white Caucasian Type 2 diabetic patients in the UK.

Adult↗
PubMed1996

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population.

A high proportion of the female patients who are members of maturity onset diabetes of the young (MODY) pedigrees, and whose diabetes mellitus is due to a glucokinase mutation, originally presented with gestational diabetes. To establish whether glucokinase mutations could be a common cause of gestational diabetes, we studied 50 subjects who presented with gestational diabetes and on follow-up had hyperglycaemia (5.5-10.0 mmol/l). Screening for glucokinase mutations using single-stranded conformational polymorphism (SSCP) analysis detected a missense mutation at position 299 (Gly299-->Arg) in three subjects. As two pedigrees in the Oxford area had the same glucokinase mutation, we suspected the role of a founder-effect, and carried out pedigree extension, haplotype construction (using microsatellite markers GCK1 and GCK2) and mutation screening of at-risk subjects from the same geographical area. One of the gestational diabetic subjects was found to be related to one of the previous pedigrees via her paternal grandmother. Subjects with the mutation were found to have the Z + 4/2 (GCK1/ GCK2) haplotype, suggesting that the observed high prevalence of the Gly299-->Arg glucokinase mutation in the Oxford region was due to a founder-effect. Since glucokinase mutations predominantly induce subclinical hyperglycaemia, it is likely that in the locality of other pedigrees there will be undiagnosed subjects with the same glucokinase mutation, which remains undetected unless pregnancy occurs.

Adult↗
PubMed1995

Prevalence of diabetes mellitus and impaired glucose tolerance in parents of women with gestational diabetes.

Nuclear families of non-insulin-dependent diabetic (NIDDM) patients are uncommon, as usually one or both parents have died. In order to aid identification of complete nuclear families, we have ascertained the disease process at a younger age by studying subjects with previous gestational diabetes. One hundred women who had had gestational diabetes, age (+/- SD) 38 (6) years, were screened by fasting plasma glucose (fpg). Sixty-one were found to have either fasting hyperglycaemia (5.5 < or = fpg < 7.8 mmol/l) or diabetes. Of these women 35 had both parents alive and the parents of 14 of these women agreed to the assessment of their metabolism by a continuous infusion of glucose with model assessment (CIGMA). Seven probands had impaired glucose tolerance (IGT) and seven were diabetic. They were age 35 (4) years and had body mass index (BMI) 26 (5) kg/m2. The parents were aged 62 (6) years and had BMI 29 (6) kg/m2 and their affection status was defined as presence of glucose intolerance (fpg or post-infusion achieved plasma glucose level > 2 SD of an age and obesity matched population). In the 14 families, five probands (36%) had neither parent affected, six (43%) had one parent affected and three (21%) had both parents affected. Only three probands had a parent with diabetes as defined by World Health Organisation criteria. We conclude that the study of women who have had gestational diabetes allows detection of probands with diabetes or impared glucose tolerance, who have both parents available for study.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1995

Endometrial resection.

The development of hysteroscopy and endometrial resection is reviewed and instrumentation is described. Suitable fluids for uterine distension and methods of delivery are discussed and safe limits to fluid absorption suggested. Selection of patients, preoperative investigation and preparation are described. Anaesthesia and operative technique are discussed with particular reference to the methods used by the authors and some common operative problems and their solutions are described. The results of treatment are discussed with reference to the published literature and two additional large unpublished series; one of 500 resections carried out in Oxford by 19 surgeons, of widely differing experience, with a follow-up period from 1 to 5 years; the other a personal series of 585 cases done by one of the authors (E.M.H.) with a follow-up period of 1 to 4 years. Factors affecting the likely success of the procedure, operative and post-operative complications, the difficulty and results of repeated resections and the indications for subsequent hysterectomy are discussed. Finally, the economic aspects of the technique and the author's conclusions as to the place of endometrial resection in the treatment of menorrhagia are given.

Endometrium↗
PubMed1994

Prenatal determination of fetal rhesus D status by DNA amplification of peripheral blood of rhesus-negative mothers.

We have developed a sensitive PCR-based assay for the RhD gene and used it to detect circulating fetal cells from RhD-positive fetuses from peripheral blood of RhD-negative mothers. With further improvement in diagnostic accuracy, this assay may have implications in the management of RhD-sensitized pregnancies in women whose partners are heterozygous for the RhD gene. Further studies are required to determine the relationship between maternal anti-D levels and circulating fetal cell numbers.

Amniotic Fluid↗
PubMed1993

Prenatal sex determination from maternal peripheral blood using the polymerase chain reaction.

We have investigated the use of a nested polymerase chain reaction assay for the detection of a fetal-specific Y-chromosomal sequence (DYS14) from DNA extracted from unsorted maternal peripheral blood. Serial dilutions of male DNA into female cord blood DNA indicated that the assay could detect an equivalent of a single male cell in 300,000 female cells. The assay exhibited absolute specificity for male DNA with no amplification from a DNA panel obtained from 10 female cord blood samples. When used on DNA extracted from unsorted peripheral blood from a series of pregnant women, the predictive values of a positive test for a male fetus were 86%, 67% and 87% in the first, second and third trimesters, respectively. We have also demonstrated that retesting the samples allows the detection of a proportion of male-bearing pregnancies with a high degree of accuracy, in that all 15 women who gave positive signals in two consecutive amplifications had male fetuses. We have also applied the test at 8 weeks postpartum to eight women who had previously delivered male babies; no Y-specific signal could be detected in any of them, suggesting that most women have cleared their circulation of fetal cells by 8 weeks after parturition.

Base Sequence↗
PubMed1993

Evaluating a policy of reduced consultant antenatal clinic visits for low risk multiparous women.

OBJECTIVES: To evaluate a change in antenatal care policy to reduce antenatal clinic visits, whereby low risk multiparous women were managed by the primary care team and seen at booking and at 41 weeks' gestation at the consultant antenatal clinic. DESIGN: Comparative study of low risk multiparous women retrospectively identified through the Oxford obstetric data system and cared for by three consultants who changed their policy (group A) or three consultants who maintained their routine care (group B). SETTING: Oxfordshire Health District. SUBJECTS: 2153 low risk multiparous women (1079 group A, 1074 group B) booked for consultant care at John Radcliffe Maternity Hospital between August 1985 and July 1987. MAIN MEASURES: Comparison of pregnancy outcomes, satisfaction with care, and clinic waiting times, during one year before and after the policy change (year 1, year 2). RESULTS: The proportion of women in group A with only one or two consultant clinic visits increased from 19.9% to 57.9% between years 1 and 2 (p < 0.001). Clinic waiting times did not improve. Of five perinatal deaths in group A, one (from postmaturity) could possibly be attributed to the policy change. The proportion of women reaching 42 weeks' gestation rose from 4.7% to 9.2% (p < 0.01); the proportion fully satisfied with their care rose from 68.4% to 82.1% (p < 0.025). No such changes were seen in group B. CONCLUSIONS: The change in policy was successful in reducing hospital antenatal clinic visits. The exercise identified dilemmas around evaluating changes in antenatal care settings. IMPLICATIONS: Criteria to test policy objectives should be selected carefully and rare events assessed prospectively in order to detect problems early.

England↗
PubMed1992

Mechanism of action/effects of androgens on lipid metabolism.

The strongest predictors of cardiovascular disease in women have been shown to be diabetes, high blood pressure, cigarette smoking, and, to a lesser degree, hypertriglyceridemia. The difference in risk between men and premenopausal women has been explained by the following widely held hypothesis: androgens lower plasma concentrations of high-density lipoprotein (HDL), particularly the HDL-2 subfraction, and increase plasma concentrations of low-density lipoprotein (LDL). In contrast, estrogens have the opposite effect, raising plasma concentrations of HDL, particularly HDL-2, and lowering plasma concentrations of LDL. After the menopause, it is believed that the protective effect of estrogens in women is lost and the incidence of heart disease rises to equal that in men. This paper provides a brief review of the effect of endogenous and exogenous androgens on lipoprotein metabolism in men and women, and considers the relevance of these findings to the choice of progestogens used in oral contraceptive preparations.

Androgens↗
PubMed1991

Progestagen-only oral contraceptives: comparison of the metabolic effects of levonorgestrel and norethisterone.

A 6-month single-blind study compared the use of a progestagen-only oral contraceptive containing norethisterone 350 micrograms/day (NE 350) with one containing levonorgestrel 30 micrograms (LN 30), to assess the metabolic effects. At the end of 6 months, there were no significant differences between the two groups with respect to plasma cholesterol, lipoproteins including HDL subfractions, triglycerides or glucose concentration. Levels of fibrinogen, plasminogen, Factor VII, Factor X and antithrombin III were also similar. Women changing from a combined oral contraceptive to LN 30 showed a significant fall in Factor X. Mean blood pressure fell on LN 30 by 7/9 mmHg, but the 6-month reading did not differ significantly from that in women on NE 350. Acceptability, and the metabolic effects of the two preparations were similar in this study. Further larger studies are warranted.

Adolescent↗
PubMed1991

Audit of workload in gynaecology: analysis of time trends from linked statistics.

OBJECTIVE: To report on trends in workload patterns in gynaecology using linked statistical data. DESIGN: Retrospective analysis of linked abstracts of hospital inpatient and day case records for patients treated in the National Health Service in gynaecology. SETTING: Six health districts in the south of England covered by the Oxford record linkage study. SUBJECTS: Records for hospital admissions to gynaecology (excluding obstetric admissions) from 1975 to 1985. MEASUREMENT AND MAIN RESULTS: Inpatient episodes increased by 23.5% and day case episodes increased by 13.1%. More people treated contributed about 90% and increased readmissions contributed about 10% to the increase in workload. The workload was decreased by strike action in 1975 and 1981-2. Average length of stay decreased substantially and consistently over the 11 years. Emergency readmissions increased annually by an average of 2.7%. Admission rates in 11 groups of surgical procedures accounting for 85% of all gynaecological inpatients are reported, and increases occurred in 10 of the 11 groups. For example, average increases in annual admission rates were 1.0% for sterilization, 1.9% for legal abortion and 8.2% for biopsy of the cervix, the rate for dilatation and curettage decreased by 1.4%. CONCLUSIONS: The increase in admission rates in gynaecology was almost entirely due to increases in numbers of people treated. The rise would have been even greater if the increase in private patients had been considered. The increase may reflect increased expectations on the part of patients and their doctors, advances in technology and increased bed availability due to declining lengths of stay.

England↗