Receiving new patients' notes from FHSAs.
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Family Practice↗
Biomedical subjects
C West
Publications and source records attributed to C West.
Identification of six new Gaucher disease mutations.
The four most common mutations account for 97% of the Gaucher disease-producing alleles in Jewish patients and 75% of the alleles in non-Jewish patients. Although at least 15 other mutations and some examples of gene conversion and/or fusion genes have been described, a number of mutations remain unidentified. We have now identified six new mutations, a deletion of a C at the 72 position of the cDNA, a 481C-->T mutation (122Pro-->Ser), a 751T-->C (212Tyr-->His), a 1549G-->A (478Gly-->Ser), a 1604G-->A (496Arg-->His), and a 55-bp deletion. All but one of these were found in single families. The 1604A mutation, however, was observed in four unrelated individuals.
Adolescent↗
Reconceptualizing gender in physician-patient relationships.
In this paper, I propose that existing research on how women physicians relate to patients differently from men might benefit from a reconceptualization of gender. Toward this end, I present an ethnomethodological perspective on gender as an accomplishment and show how it contrasts with conventional perspectives on 'sex differences' and 'sex roles'. I review results of existing research on women and men physicians' relationships with their patients, highlighting the inadequacies of conventional perspectives to address this topic. Finally, I recast results of my own research on 'doctors' orders' in an effort to illustrate the utility of this perspective to research on gender's effects on the physician-patient relationship.
Adult↗
Primary immunisations in Liverpool. I: Who withholds consent?
The association between parents in Liverpool consenting to their children being invited for primary immunisations and five sociodemographic factors, namely sex, position of child in the family, family type, migration into Liverpool since birth, and local deprivation was examined. Rates of consent to invitation were over 97% for each antigen except pertussis, which had a consent rate of 83%. Consent to invitation for pertussis vaccine was least likely to have been given for boys, children with older siblings, those recorded as living with a single parent, and those in the most deprived areas. Local deprivation also had an effect on consent to the measles, mumps, and rubella vaccine. Migration into Liverpool had a significant effect on consent to invitation for all antigens except pertussis. The child's sex, family type, and local deprivation had no effect on consent to diphtheria, tetanus, and polio immunisations. Maximising pertussis vaccine uptake will require more attention to be paid to those parents who have been identified as being less likely to give consent. It is particularly important that consistent and clear advice about immunisations is made available to parents with two or more children, lone parents, and those living in materially deprived areas. Our findings challenge some of the assumptions underlying the principles of 'first parent visiting', at least so far as pertussis is concerned.
Attitude to Health↗
Primary immunisations in Liverpool. II: Is there a gap between consent and completion?
The association between completion of primary dipht eria, tetanus and pertussis, measles, mumps, and rubella and polio immunisation courses in Liverpool and five sociodemographic factors, namely the child's sex, position in the family, family type, migration into Liverpool since birth, and local deprivation was examined. Only 68% of children were fully immunised by their second birthday. The immunisation rate for pertussis was 74%, compared with 85-89% for the other antigens. Children who had older siblings, were recorded as living with one parent, had moved into Liverpool or who lived in areas of high deprivation were less likely to complete the full set of antigens and individual courses. Boys were significantly less likely than girls to be fully immunised against pertussis. Differences in the completion of pertussis immunisation associated with the child's sex and with local deprivation were a direct reflection of differences in rates of parental consent. Parental consent did not wholly account for significantly lower rates among children with older siblings, those living with a lone parent, and those who had moved into Liverpool, however. This may reflect the practical difficulties of attending immunisation clinics. To achieve immunisation targets, a more flexible and targeted approach is required of health professionals. This may include the careful targeting of efforts to increase consent and the improvement of access to immunisations by providing domiciliary services or by opportunistic immunisation of infants when they are in contact with primary and community health care services.
Attitude to Health↗
Gaucher disease: gene frequencies in the Ashkenazi Jewish population.
DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-seven of 1,528 individuals were heterozygous for the 1226G (N370S) mutation, and four presumably well persons were homozygous for this mutation. The gene frequency for the 1226G allele was calculated to be .0311, and when these data were pooled with those obtained previously from another 593 Jewish subjects, a gene frequency of .032 with a standard error of .004 was found. Among 2,305 normal subjects, 10 were found to be heterozygous for the 84GG allele, giving a gene frequency of .00217 with a standard error of .00096. No examples of the IVS2(+1) mutation were found among 1,256 samples screened, and no 1448C (L444P) mutations were found among 1,528 samples examined. Examination of the distribution of Gaucher disease gene frequencies in the general population shows that the ratio of 1226G mutations to 84GG mutations is higher than that in the patient population. This is presumed to be due to the fact that homozygotes for the 1226G mutation often have late-onset disease or no significant clinical manifestations at all. To bring the gene frequency in the patient population into conformity with the gene frequency in the general population, nearly two-thirds of persons with a Gaucher disease genotype would be missing from the patient population, presumably because their clinical manifestations were very mild.
Base Sequence↗
Sequence of a cDNA clone encoding a rat Reg-2 protein.
We report here the nucleotide sequence of a rat cDNA clone encoding a protein homologous to the Reg (regenerating) protein. The encoded protein, designated Reg-2, shows 60%, 78% and 61% similarities with the reported amino acid sequences of the rat, bovine and human proteins, respectively.
Amino Acid Sequence↗
Mutations in Jewish patients with Gaucher disease.
DNA from 100 unrelated patients, 97 of whom were Jewish and three half-Jewish, was analyzed for 22 mutations known to cause Gaucher disease. All but seven of the alleles were identified as having previously described mutations. Five of the unidentified mutations proved to be a previously undescribed nucleotide substitution in a splice junction (IVS2+1) that causes skipping of exon 2. Thus, only 2 of 197 alleles remained unidentified. Homozygotes for the most common mutation, that a nucleotide (nt) 1226, manifested, on average, the mildest disease and the latest age of onset. The mutation at nt 84 and the newly described IVS2+1 mutation, which do not produce any enzyme, were associated with earlier onset and more severe disease. Five of the mutations were considered to be "public," in the sense that they were found in more than one unrelated individual. Screening for these five mutations permitted detection of 97.5% of all Gaucher alleles in this patient population. Because the mutation at nt 1226 is underrepresented in the patient population and because not all homozygotes come to medical attention, screening the Ashkenazi population using DNA analysis should detect approximately 99% of all heterozygotes.
Alleles↗
Polymorphisms in the human glucocerebrosidase gene.
The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone. Sequence analysis revealed that there were 11 additional differences between the two clones. The clone with the nt 1226 mutation was, as is always the case, Pv1.1- (polymorphic PvuII site present). The 84GG clone was Pv1.1+. Examination of 35 normal subjects and 51 Gaucher disease patients was consistent with the existence of only two major haplotypes. Two additional minor haplotypes were found, one in Africans and one in the white population. These represented additional mutations superimposed on the basic two haplotypes. Two unrelated patients with Gaucher disease seemed to be exceptions in the 5' end of the gene was heterozygous for the + and - haplotypes but the most 3' marker was homozygous. These patients are believed to have a gene deletion on one allele. In addition to these studies, we correct 28 minor errors in the originally published sequence.
Alleles↗
What effect will the Nurses Act 1991 have on maternity care?
The NSW Nurses' Act 1991 has far-reaching implications for midwifery and for childbearing families. There are several issues that cause concern. The primary issue is the potential employment of non-midwives in maternity care. This would be dangerous to the women being cared for because of the specialised knowledge required to practice midwifery. In some ways the act undermines the independence of midwifery from nursing and the value of midwifery care. Implementation of the act may also cause some role conflict in maternity units.
Family↗
Quality from the management perspective.
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Quality of Health Care↗
Management of uterine fibroids.
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Female↗
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
Gaucher disease is an autosomal recessive glycolipid storage disease characterized by a deficiency of glucocerebrosidase. The disease is most common in persons of Ashkenazi Jewish ancestry and the most common mutation, accounting for about 75% of the mutant alleles in this population, is known to be an A----G substitution at cDNA nucleotide (nt) 1226. Screening for this disease has not been possible because nearly 25% of the mutant alleles had not been identified, but linkage analysis led to the suggestion that most of these could be accounted for by a single mutation. We now report the discovery of this mutation. The insertion of a single nucleotide, a second guanine at cDNA nt 84 (the 84GG mutation), has been detected in the 5' coding region of the glucocerebrosidase gene. The amount of mRNA produced is shown to be normal but since the frameshift produced early termination, no translation product is seen. This finding is consistent with the virtual absence of antigen found in patients carrying this mutation. The 84GG mutation accounts for most of the previously unidentified Gaucher disease mutations in Jewish patients. The common Jewish mutation at nt 1226, the 84GG mutation, and the less-common mutation at nt 1448 accounted for 95% of all of the Gaucher disease-producing alleles in 71 Jewish patients. This now makes it possible to screen for heterozygotes on a DNA level with a relatively low risk of missing couples at risk for producing infants with Gaucher disease.
Age Factors↗
Co-treatment with growth hormone of sub-optimal responders in IVF-ET.
Several growth factors augment the ovarian response to gonadotrophins and growth hormone is known to regulate the production of insulin-like growth factor-1. With this in mind, 20 women who had previously responded sub-optimally to standard ovarian stimulation regimens for in-vitro fertilization and embryo transfer (IVF-ET) were recruited into a randomized trial to study the effect of co-treatment with growth hormone (Norditropin, Novo Nordisk Gentofte A/S). Intramuscular injections of growth hormone (24 IU) or placebo were given on alternate days concurrently with the same daily dosage of gonadotrophin as administered in the patient's pretreatment cycle. Overall, there was no improvement in the ovarian response to the growth hormone-augmented regimen of stimulation although there was a tendency for the development of more follicles (P = 0.06). When the results from the patients with ultrasound-diagnosed polycystic ovaries were analysed separately, however, more follicles developed (P = 0.04), more oocytes were collected (P = 0.03) and there was a trend towards higher urinary oestrogen production following growth hormone therapy. There was no improvement in the ovarian response in patients with normal ovaries. The treatment was not associated with any adverse effects. We conclude, therefore, that in a subgroup of patients who respond sub-optimally to standard ovarian stimulation regimens for IVF-ET and who have ultrasound-diagnosed polycystic ovaries, systemic growth hormone is an effective adjunctive therapy.
Clomiphene↗
Serum and follicular fluid insulin like growth factors I and II during growth hormone co-treatment for in-vitro fertilization and embryo transfer.
OBJECTIVE: We wished to assess the changes in serum IGF-I and IGF-II concentrations during gonadotrophin treatment alone or with additional GH treatment and to compare follicular fluid IGF-I and IGF-II concentrations in the two treatment groups. DESIGN: We performed an open study of co-treatment with GH and subsequently a randomized double blind comparison of addition of placebo or GH to clomiphene citrate and gonadotrophins. PATIENTS: We studied previously poor responders to superovulation regimens for in-vitro fertilization and embryo transfer, six women in an open study, four of whom had ultrasound diagnosed polycystic ovaries, and 17 women in a double blind study, 12 of whom had polycystic ovaries. MEASUREMENTS: We measured serum IGF-I and IGF-II concentrations throughout treatment cycles. Follicular fluid concentrations were measured at the time of oocyte recovery. RESULTS: Neither serum IGF-I nor IGF-II concentrations were altered by gonadotrophin treatment alone. However, co-treatment with GH led to a significant rise in serum IGF-I concentrations in women with ultrasound diagnosed polycystic ovaries. Concentrations of IGF-I and IGF-II in follicular fluid were lower than in serum, although follicular fluid IGF-I concentrations were higher in women receiving GH than in those receiving placebo. CONCLUSIONS: Poor responders to superovulation regimens may have an abnormality of growth factor response. GH co-treatment leads to an increase in circulating IGF-I concentrations in women with polycystic ovaries but our results do not support the hypothesis that GH stimulates IGF-I production in the human ovary.
Adult↗
Magnetic stimulation of the facial nerve.
Intracranial activation of the facial nerve is now possible with the noninvasive techniques of magnetic stimulation. Brief magnetic pulses generated by a coil overlying the parietal scalp elicit compound muscle action potentials of similar shape and amplitude and greater latency than those produced by electroneurography. Mapping studies demonstrate the compound muscle action potentials to be of constant latency and varying amplitude with changing coil location. Maximum compound muscle action potential amplitudes are obtained with the coil center located in a rectangular area superior and posterior to the ear canal. A comparison of large and small diameter coils showed them to be equally effective for painless facial nerve stimulation; however, the smaller coil allowed for a more localized field of activation. Magnetic stimulation has the potential to provide cross-the-lesion testing of facial nerve function.
Action Potentials↗
Combined growth hormone and gonadotropin treatment for ovulation induction in patients with non-responsive ovaries.
Four anovulatory patients who did not respond to large doses of hMG over 18-33 days were co-treated in subsequent cycles with human growth hormone. Treatment with growth hormone markedly raised serum insulin-like growth factor concentrations. Two patients had a dramatic ovarian response within 7 days of co-treatment; two menopausal patients did not respond. This combined therapy may be of practical value for ovulation induction in non-menopausal patients with non-responsive ovaries.
Addison Disease↗
Oral diamorphine: lack of effect on dyspnoea and exercise tolerance in the "pink puffer" syndrome.
The aim of this study was to assess the effects of diamorphine on breathlessness and exercise tolerance in patients with severe chronic airflow obstruction and normal arterial carbon dioxide tension (PCO2) levels ("pink puffer" syndrome). In this double-blind, cross-over, randomized study we examined both acute and chronic effects of single and multiple doses of oral diamorphine in 14 "pink puffer" patients. Their mean resting forced expiratory volume in one second (FEV1) was 36% predicted normal, mean arterial oxygen tension (PaO2) was 9.2 kPa and mean PaCO2 was 5.2 kPa. Ten patients took either diamorphine 2.5 or 5 mg or placebo elixir 6 hourly for 2 weeks, recording on a diary card dyspnoea, sleepiness and well-being on a visual analogue scale (VAS). The final treatment was given 30 min before measuring spirometry, arterial blood gases, plasma morphine levels, 6 min walking distances, time walked on treadmill and self-assessment of dyspnoea on a VAS scale after exercise. On two further days, eight patients took two doses, 4 h apart, of either diamorphine 7.5 mg or placebo elixir. Spirometry, 6 min walking distance with a VAS score for dyspnoea were measured before and at 1 h after each dose. Morphine levels and blood gases were also measured. Whether given in single or repeated doses, oral diamorphine had no significant effect on exercise tolerance and breathlessness when compared with placebo. Diamorphine 2.5-7.5 mg produced neither sleepiness nor a deterioration in blood gases. However, plasma levels associated with analgesic efficacy were not achieved with these doses. Thus, as given in this study, oral diamorphine is unlikely to have therapeutic potential in the treatment of dyspnoea in the "pink puffer" syndrome.
Administration, Oral↗