Biomedical subjects
P M Ellis
Publications and source records attributed to P M Ellis.
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.
We have used double fluorescence in situ hybridisation to study the involvement of centromeres and paracentromeric heterochromatin in the chromosome abnormalities seen in the ICF syndrome. To detect centromeres, we used a probe which labelled alphoid satellite DNA, and for the paracentromeric heterochromatin a probe for classical satellite II. Our results show that it is always the paracentromeric heterochromatin of the relevant chromosomes that becomes decondensed in this syndrome and which fuses to produce multiradial configurations. However, the centromeric regions, identified by their content of alphoid satellite DNA, appear never to become decondensed and always remain outside the regions of chromosome fusion in the multiradials.
Ethics of randomized clinical trials.
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Meeting patients' information needs beyond the year 2000.
Advances in information technology, and changing patient expectation in regard to provision of information and participation in clinical decisions are already influencing the cancer consultation. In future, the oncologist's role will evolve further, and the cancer consultation beyond the year 2000 will be an opportunity for information relating to the particular patient's circumstances to be presented according to the patient's wishes. Patients' desired input into clinical decisions will be respected, and consultation audiotapes will be a widely used aid for patients after the consultation.
Osteosarcoma and pulmonary metastases: 15-year experience from a single institution.
BACKGROUND: The outcome of management in patients with osteosarcoma and pulmonary metastases at a Sydney teaching hospital was reviewed. METHODS: A retrospective review was undertaken of all patients diagnosed with osteosarcoma and treated by the Bone and Soft Tissue Unit and the Medical Oncology Department, Royal Prince Alfred Hospital between 1979 and January 1995. Information was collected on demographics, tumour site, tumour histology, primary management including surgery and adjuvant therapy, and the subsequent development and management of pulmonary metastases. RESULTS: A total of 56 patients with localized osteosarcoma was seen. Overall survival and survival following pulmonary metastases was assessed. There were 33 (59%) males and 23 (41%) females, with a median age of 27 years. Survival at 5 years, for patients with non-axial osteosarcoma was 60% (95% CI, 44-77%). Pulmonary metastases without other metastatic disease being apparent, developed in 22 patients, of whom 12 underwent surgical resection. The median disease-free interval of these latter patients was 20 months (95% CI, 8-32 months). Median survival among patients not undergoing surgical resection was 5 months from detection of metastases. Patients undergoing resection of pulmonary metastases had a median survival of 17 months following detection of pulmonary metastases (95% CI, 7-27 months). Actuarial 5-year survival was 16% (95% CI, 0-42%). CONCLUSIONS: A small proportion of patients with resectable pulmonary metastases from osteosarcoma achieve long-term disease-free survival following surgical resection. It is not possible to accurately identify these patients prospectively.
Evidence of no difference or just no evidence of any difference.
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Dimeric inhibins in amniotic fluid, maternal serum, and fetal serum in human pregnancy.
Using new specific and sensitive enzyme-linked immunosorbent assays for inhibin A and inhibin B, we measured these proteins in amniotic fluid (AF), maternal serum (MS), and umbilical cord serum in normal pregnancies. Inhibin A levels in AF rose from a median (10-90th percentile) level of 615 (158.2-1124.6) pg/mL at 14 weeks to 1336.0 (489.4-2084.1) pg/mL at 20 weeks, and inhibin B rose from 216.6 (67.4-554.6) to 1078.2 (439.3-2482.2) pg/mL over the same period. In MS, inhibin A levels fell from a median (10-90th percentile) level of 177.5 (101.4-290.7) pg/mL at 10 weeks to a nadir of 111.9 (59.5-200.3) pg/mL at 17 weeks, rising again to 180.3 (74.1-327.2) pg/mL at 20 weeks. No inhibin B was detectable in MS. In 47 pairs of matched samples (14-16 weeks gestation) there was no correlation of inhibin A levels in AF with those in MS (r = 0.19; P > 0.05). In 45 term umbilical cord serum samples, no dimeric inhibin was detectable in serum from female babies, but inhibin B was detectable in male sera; the median (10-90th percentile) concentration was 167.4 (111.2-224.8) pg/mL. These data suggest that for the gestation periods studied, although the placenta secretes inhibin A, another source, probably the fetal membranes, secretes both inhibin A and inhibin B. Further, the presence of inhibin B in male fetuses is consistent with a testicular origin, suggesting that inhibin B may be important in the development of the fetal hypothalamo-pituitary-testicular axis.
The occurrence of germ cell malignancies in two patients positive for HIV antibodies.
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Psychosis following acute alteration of thyroid status.
OBJECTIVE: Mania with psychotic features presenting following abrupt normalisation of thyroid function from severe Graves's disease is reported. CLINICAL PICTURE: A 33-year-old man with severe, untreated Graves's disease was treated aggressively, with rapid restoration of normal serum thyroid hormone levels. Symptoms of mania and psychosis then developed. TREATMENT: Time limited antipsychotic medication and continuing medical treatment. OUTCOME: There was resolution of psychiatric symptoms. CONCLUSIONS: The association of mania and psychosis with thyroid disease is rare, but aggressive medical treatment and rapid restoration of normal serum thyroid levels may increase the risk of the emergence of such symptoms.
Impact of prenatal diagnosis on revised livebirth prevalence estimates of Down syndrome in the Lothian region of Scotland, 1978-1992.
Ramsay et al. [(1991) Biomed Pharmacother 45:267-272] reported on the livebirth prevalence of Down syndrome in the Lothian region of Scotland during 1978-1989. Their results suggested a temporal association between the events of Chernobyl in April 1986 and a significant-excess of cases in 1987. In the current study the data were extended for 3 years and reanalyzed, a major objective being to correct for the differential loss of fetuses with Down syndrome which occurs between prenatal diagnosis and birth. Other objectives were to estimate the prevalence reduction due to prenatal diagnosis, quinquennial maternal age-specific risk rates, and the level of ascertainment of cases. The reanalysis found a 12-year prevalence rate of 1.29 vs. the previous rate of 1.34, and a shift of the annual prevalence peak to 1988, with a reduced prevalence in 1987 compared to that found in the earlier study. The new results are less consistent in showing an association of Down syndrome clustering with the Chernobyl accident. For the 15-year study period, a 23% overall reduction in prevalence occurred due to prenatal diagnosis and elective abortion of affected fetuses, with a 50% reduction to women > or = 35 years of age. For 1988-1992, these reductions were 33% and 60%, which are among the highest reported in the literature for these time periods. The estimated quinquennial maternal risk rates were very similar to others already reported, and the data are consistent with a high level of case ascertainment. Since these women are approaching the upper limits of fetal detection through advanced maternal age alone, continued reduction in prevalence rates for Down syndrome through prenatal diagnosis and elective abortion will come mostly from increased use of other (chemical) screening techniques now available.
On the receiving end. V: Patient perceptions of the side effects of cancer chemotherapy in 1993.
BACKGROUND: A study conducted in 1983 to identify and rank the symptoms experienced by patients receiving cancer chemotherapy reported that vomiting and nausea were the most important symptoms experienced. With the advent of new antiemetic regimens and changes in cancer chemotherapy, it was anticipated that changes may have occurred in patient perception of symptoms. The study was therefore repeated in 1993. PATIENTS AND METHODS: One hundred and fifty-five cancer patients receiving chemotherapy at a large urban teaching hospital participated in the study. Patients selected from cards listing symptoms all those experienced and the five most troublesome. RESULTS: Patients reported experiencing an average of 20 symptoms (13 physical and 7 psychosocial). Nausea was reported as the most severe symptom followed by tiredness and loss of hair. Vomiting which was the most severe symptom in 1983, now ranked 5th. Differences were detected in the symptoms experienced and reported as most severe, between chemotherapy regimens, between older and younger patients and between males and females. CONCLUSIONS: The results suggest a reduction in the severity of some symptoms experienced while receiving chemotherapy and a shift from concerns about physical to psychosocial issues.
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.
A further patient with the ICF syndrome (immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies) is described. This case is the second to be reported with consanguinity of the parents. This lends support to the theory of autosomal recessive inheritance. The features of the 15 published cases are reviewed. The clinical and cytogenetic characteristics of the syndrome are discussed, and new evidence provided as to the role of centromeres and centric heterochromatin in the production of chromosome aberrations. Correspondence with other authors has made possible a review of the clinical outcome in this condition.
Tamoxifen flare--an unusual case of hypercalcaemia and transient rapidly progressive pancytopenia.
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Is platelet imipramine binding reduced in depression? A meta-analysis.
Although it has been suggested that decreased platelet imipramine binding may be a putative biological marker of depressive illness, a number of studies have not confirmed this finding, including a recent multicenter investigation by the World Health Organization (Mellerup and Langer 1990). We performed a meta-analysis of published reports on imipramine binding in groups of depressed and healthy control subjects and found that there was a highly significant decrease in Bmax (maximal binding) values in the depressed subject groups, which was even greater among those who had been free of medication for 4 weeks at the time of investigation. This finding remained highly significant even when only high affinity binding studies (Kd < 1 nmol/L) were considered, although the absolute size of this decrease was smaller.
Prenatal diagnosis of fragile X syndrome: management of the male fetus with a premutation.
Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.
Staffing and funding of consultation-liaison psychiatry services in Australia and New Zealand.
The aim of the study was to establish the current and desired levels of staffing and funding of the 52 consultation-liaison (C-L) psychiatry training units in Australian and New Zealand general hospitals. Administration of a questionnaire and follow-up verification provided data on referral rates, existing and preferred staffing levels, and staff workloads. The referral rates and staffing levels in most cases fall below those quoted for Europe and the USA, and those considered optimal by the respondents. This, together with the large variation in referral rates and workload, has implications for the type of clinical activity conducted and quality of the training experience in different units.
Craniocervical fusion with contoured Luque rod and autogeneic bone graft.
OBJECTIVE: To examine the efficacy of internal craniocervical fixation with a Luque rod and autogeneic bone graft for craniocervical instability. DESIGN: A case series. SETTING: A university-affiliated hospital. PATIENTS: Six patients with craniocervical instability from diverse causes. INTERVENTIONS: Craniocervical fusion with a custom-formed Luque rod wired to the occiput and a variable number of vertebrae overlaid with autogeneic bone graft, followed by bracing with either a halo vest or a removable, stiff, plastic cervical orthosis. MAIN OUTCOME MEASURES: Craniocervical fusion and neurologic stability. RESULTS: All patients maintained good craniocervical alignment. Radiologic bony fusion was achieved in five patients. Three patients remained neurologically stable and three had improved neurologic status. CONCLUSION: Craniocervical fusion with the contoured Luque rod and autogeneic bone grafting, usually in combination with a temporary plastic cervical orthosis, is of value in managing craniocervical instability.
The oral examination: a study of academic and non-academic factors.
The oral examination in psychiatry for final-year medical students at Wellington and Dunedin School of Medicine, University of Otago, was studied. Between December 1989 and April 1990, 40 medical students were videorecorded during such an examination. The transcripts of the recording of each oral, and at a later date the videorecordings, were individually scored by a panel of six research psychiatrists who were experienced examiners. In addition verbal and non-verbal behaviour was rated using visual analogue scales and the students completed personality and anxiety questionnaires. There was a low level of agreement between research psychiatrists in the allocation of oral marks. The oral score was positively associated with the level of confidence of the student and negatively with anxiety in men.