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Biomedical subjects

S Jeffery

Publications and source records attributed to S Jeffery.

At least 73 records · Page 4Linked to original sources
PubMed1996

Enteroviral pharyngitis diagnosed by reverse transcriptase-polymerase chain reaction.

The role of enteroviruses in childhood pharyngitis was investigated using enteroviral specific reverse transcriptase-polymerase chain reaction (RT-PCR). Viral/bacterial throat swabs were taken from 50 children with acute pharyngitis and 26 controls. A positive culture was identified in only 26% of children with pharyngitis (adenovirus 10%, group A streptococci 2%), and none of the controls. Enteroviral RT-PCR was positive in 8% of the pharyngitis group and none of the controls. Enteroviruses are an important cause of pharyngitis in childhood.

Acute Disease↗
PubMed1996

Angiotensin converting enzyme gene I/D polymorphism, blood pressure and the renin-angiotensin system in Caucasian and Afro-Caribbean peoples.

The objectives of this study were to assess relations between ACE gene I/D polymorphism, essential hypertension, plasma renin activity and aldosterone in white (European descent) and black (Afro-Caribbean descent) peoples. Measurements were carried out on a total of 320 subjects (210 white: 116 men, 94 women; 110 black: 65 men, 45 women); all were on their usual sodium intake; none was on anti-hypertensive therapy and none had secondary hypertension. Genomic DNA was isolated from blood cells and ACE I/D genotype was established using polymerase chain reaction. Plasma hormones were measured by radioimmunoassay and blood pressure (BP) with an ultrasound sphygmomanometer. All subjects were grouped into normotensive, borderline and hypertensive according to WHO guidelines. The distribution of the I/D genotype in the white people was approximately 1:2:1; by contrast, in the Afro-Caribbean people there was a significantly higher frequency of the D allele (chi 2P = 0.04). Within the white people there was no significant association between ACE genotype and high BP; however, within the black people there was a positive association between the frequency of the D allele and increasing BP ( chi 2 for trend P = 0.03). In either group, there were no associations between ACE I/D genotype and plasma renin activity and aldosterone suggesting that ACE genotype does not contribute to the expression of the circulating renin-angiotensin system. This study highlights differences in ACE I/D polymorphism between white and black peoples and suggests the possibility of racial differences in the association between ACE genotype and BP.

Adult↗
PubMed1996

Epilepsy monitoring and advice recorded: general practitioners' views, current practice and patients' preferences.

BACKGROUND: Epilepsy is a common condition that is managed at the interface between primary and secondary care. AIM: A study aimed to describe general practitioners' criteria for aspects of optimal epilepsy care and their estimates of current levels of care achieved; to compare these estimates with clinical data extracted from their patients' medical records; and to compare general practitioners' estimates and recorded data with information provided by the patients themselves. METHOD: Thirty seven general practitioners from six practices in the south Thames region were sent a questionnaire enquiring about current practice with regard to general practitioner and specialist monitoring of patients with epilepsy and provision of advice, and about their criteria for the optimum levels of aspects of epilepsy care. Of patients aged over 15 years in the study practices, 0.6% were found to have active epilepsy; 283 of these 326 patients were sent a questionnaire enquiring about their epilepsy, the service and advice provided, and whether they required more information. Responses to the general practitioners' questionnaire and to the patients' questionnaire were compared and also compared with information extracted from the patients' medical records. RESULTS: Ninety five per cent of the general practitioners responded. Of 255 patient questionnaires (90%) returned, 251 could be analysed. Of 247 patients, 168 (68%) reported having had no seizure in the previous six months. Forty of 241 patients (17%) had a regular arrangement to see their general practitioner regarding their epilepsy. Of 191 patients who expressed a preference, 116 (61%) reported preferring to receive their epilepsy care mainly from their general practitioner. General practitioners reported that ideally patients should be monitored in primary care every six months (the median recorded frequency was 14 months) and that there should be a record of advice given to all patients on driving, adverse effects of antiepileptic drugs, and self-help groups. Advice was recorded in patients' records as having been given on driving (46% of records), adverse effects of antiepileptic drugs (9%), and self-help groups (3%); 82 of 237 patients (35%) reported not receiving enough advice. CONCLUSION: Patients generally preferred to receive their epilepsy care in general practice. Monitoring and provision of advice were less than optimal from both the general practitioners' and the patients' point of view. New resources and skills will be necessary to bridge this perceived gap. Specially trained nurses may have a role in this monitoring and advice provision.

Adolescent↗
PubMed1996

Factor V Leiden polymorphism (FV Q506) in patients with ischaemic heart disease, and in different populations groups.

A point mutation in the factor V gene (FV Q506) renders factor V resistant to inactivation by activated protein C. The frequency of this mutation is known to be significantly increased in patients with thrombophilia. There are conflicting reports on the significance of the polymorphism in patients with ischaemic heart disease. We determined the frequency of FV Q506 in a control Caucasian population, and compared it with 192 Caucasian patients admitted to coronary care and assessed as having myocardial infarction (MI) or unstable angina plus previous MI. There was no significant difference between the two groups. A cohort of 105 asymptomatic Afro-Caribbeans showed a much reduced frequency of the polymorphism.

Black People↗
PubMed1995

Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region.

Twenty families with autosomal dominant polycystic kidney disease from S. W. Thames Region were analysed using markers for chromosome 16p13.3, the site of the common mutation (PKD1). Six families gave a negative lod-score for 3'HVR, the most informative distal marker. This could be explained in four cases by recombination events. Of the two families where this was not an explanation, one, of Italian origin, was unequivocally unlinked for all markers, and the other was more likely to be non-PKD1 than linked to 16p13.3. The Italian family was ascertained through the Blood Pressure Unit, and the other via the Genetic Clinic. No members of either family had ever attended a renal clinic. The remaining 18 families either came via renal clinics, or had at least one member attending such a centre.

Adult↗
PubMed1995

Angiotensin-converting enzyme gene deletion polymorphism. A new risk factor for lacunar stroke but not carotid atheroma.

BACKGROUND AND PURPOSE: A deletion (D)/insertion (I) polymorphism in the angiotensin-converting enzyme gene has been associated with myocardial infarction. Its relations to both stroke and atheroma remain uncertain. We examined its role as a risk factor in patients with cerebrovascular disease and its relation to carotid atheroma. METHODS: One hundred one patients with symptomatic carotid artery territory cerebral ischemia were compared with 137 age-matched control subjects. In the patient group, carotid atheroma was assessed by measurement of degree of carotid stenosis and intima-media thickness with high-resolution duplex ultrasound. The D/I polymorphism was examined using the polymerase chain reaction. RESULTS: D:I allele frequency was 0.59:0.41 in case subjects and 0.48:0.52 in control subjects (P = .01). The DD genotype was more common in patients with cerebrovascular disease compared with control subjects (36/101 versus 30/137, P = .02). The DD genotype conferred a relative risk of any type of cerebrovascular disease of 1.98 (95% confidence interval [CI], 1.11 to 3.51; P = .02). However, this was largely due to a strong association in the 18 patients with lacunar stroke, in whom the D:I ratio was 0.75:0.25 (P = .0097 versus control subjects). The odds ratio for lacunar stroke associated with the DD genotype was 5.6 (95% CI, 2.0 to 15.7) and was still significant at 4.40 (95% CI, 1.45 to 12.6; P < .009) after controlling for other risk factors. There was no significant association between angiotensin-converting enzyme genotype and cerebrovascular disease due to large-vessel stenosis. There was no association between genotype and age, sex, smoking history, diabetes, or cholesterol level. CONCLUSIONS: The deletion polymorphism in the angiotensin-converting enzyme gene is a new independent risk factor for lacunar stroke but is not a risk factor for stroke associated with carotid stenosis.

Aged↗
PubMed1994

Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal dominant inheritance with variable expression is well established. We have performed a genome-wide linkage analysis in a large Dutch kindred with autosomal dominant Noonan syndrome, and localized the Noonan syndrome gene to chromosome 12 (Zmax = 4.04 at 0 = 0.0). Linkage analysis using chromosome 12 markers in 20 smaller, two-generation families gave Zmax = 2.89 at 0 = 0.07, but haplotype analysis showed non-linkage in one family. These data imply that a gene for Noonan syndrome is located on chromosome 12q, between D12S84 and D12S366.

Chromosome Mapping↗
PubMed1994

Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin.

OBJECTIVE: To determine the distribution of the insertion/deletion (I/D) polymorphism of the angiotensin converting enzyme (ACE) gene in several ethnic groups: Caucasian Europeans, Black Nigerians, Samoan Polynesians and Yanomami Indians. RESULTS: The ratio of the frequencies of the II, ID and DD genotypes were 1:2:1 in the Europeans, but there was a tendency towards a higher frequency of the D allele in the Nigerians. In contrast, the Samoans and the Yanomami Indians displayed a much higher frequency of the I allele than of the D allele. CONCLUSION: The relationship between ACE genotype and disease in these latter groups is still not known, but the present results clearly suggest that ethnic origin should be carefully considered in the increasing number of studies on the association between I/D ACE genotype and disease aetiology.

Alleles↗
PubMed1994

Angiotensin-1 converting enzyme (ACE) polymorphism in patients presenting with myocardial infarction or unstable angina.

A deletion/insertion polymorphism in the ACE gene has been reported previously as a potent factor for myocardial infarction. We have tested the frequency of the deletion (D) allele of the ACE gene in 308 consecutive patients admitted to coronary care with chest pain. The gene frequencies were compared with those of 348 controls recruited from the London area. Of 108 Caucasian patients with myocardial infarction, the DD genotype was found more frequently than the combined DI and II genotypes (Chi-square, chi 2 = 5.07, 2P = 0.024). The overall D gene frequency was higher in myocardial infarction patients (125 of 216, 58%) than in controls (347 of 696, 49.9%) (chi 2 = 3.79, 2P = 0.052). In contrast, the DD genotype and D allele frequencies in patients with unstable angina were similar to those found in our normal population. A nonsignificant difference in allele frequency between myocardial infarction and unstable angina patients was observed but the small numbers of subjects studied precludes a more formal comparison. Since unstable angina and myocardial infarction represent a spectrum of coronary thrombosis, it is possible that the DD genotype favours the development of myocardial infarction, perhaps through the presence of higher serum ACE concentrations.

Aged↗
PubMed1993

A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3.

A family of Sicilian origin with autosomal dominant polycystic kidney disease (APKD) has been shown to be unlinked to chromosome 16 markers. LOD scores for the polymorphic markers 3'HVR and SM7 flanking the PKD 1 locus, were -1.4 and -2.33 respectively, and theta max was 0.5 for each marker. The clinical phenotype of this family is consistent with that of the other non-linked families with APKD reported in the literature, all outside the United Kingdom, which have a milder progression than those linked to 16p13.3. Assuming that a clinic population represents the most severe forms of a disease and non PKD-1 is a less aggressive phenotype, the degree of genetic heterogeneity for APKD in the population may well be much greater than at present suggested.

Aged↗
PubMed1993

Congenital nystagmus cosegregating with a balanced 7;15 translocation.

We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).

Chromosomes, Human, Pair 15↗