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Biomedical subjects

D Marsden

Publications and source records attributed to D Marsden.

30 records · Page 2Linked to original sources
PubMed1994

Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways.

The effects of growth hormone treatment and dietary alanine supplementation, individually and in combination, were studied in five patients with organic acidemias. Three patients had propionic acidemia, one had 3-hydroxyisobutyric acidemia, and one had a defect in isoleucine metabolism. Two patients with propionic acidemia had decreased growth hormone secretion in response to provocative stimuli (intravenous L-arginine and oral levodopa or clonidine); the remaining subjects had sufficient growth hormone secretion. Three of four subjects in whom IGF1 was measured showed subnormal concentrations at baseline (including two with normal growth hormone secretory responses). All patients showed an increase in linear growth with growth hormone. In the four patients studied, all had a significant increase in nitrogen retention over baseline with alanine or growth hormone alone, or with the combination of growth hormone and alanine, with a much greater effect of growth hormone. Lean body mass and body fat composition tended to become normal with treatment. Protein tolerance increased, and when the patients' dietary protein intakes were increased between 20 and 60% they maintained positive nitrogen balance, without a significant increase in metabolite excretion. One patient with propionic acidemia expired during the time of the study, following a course of recurrent pancreatitis and an episode of acute basal ganglia infarction. All of the other subjects showed clinical improvement (decreased incidence of ketoacidotic episodes and decreased frequency of hospital admission and school absence) during treatment, and even the patient who expired remained metabolically stable up to and through the terminal event. We conclude that growth hormone may be of value in the management of patients with organic acidemia.

3-Hydroxybutyric Acid↗
PubMed1994

EMACO in high risk gestational trophoblast disease--the Australian experience. Gestational Trophoblast Subcommittee, Clinical Oncological Society of Australia.

Sixty-five patients with high-risk trophoblast disease have been treated with the EMACO combination split regimen therapy in the 10 year period, 1981 to 1990. Four patients died but the remaining 61 (94%) remain free of disease up to 10 years later. Toxicity was manageable in most cases with minimal delay in treatment from myelosuppression. EMACO is a well tolerated regimen with a high cure rate in patients with high-risk gestational trophoblast disease (GTD).

Adolescent↗
PubMed1992

An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.

OBJECTIVE: To report an atypical presentation of medium-chain acyl Coenzyme A dehydrogenase deficiency in a 13-year-old girl with hyperammonemic encephalopathy and orotic aciduria meeting the accepted criteria for diagnosis of a female heterozygous for ornithine transcarbamylase deficiency. DESIGN: Case report and definitive biochemical testing. SETTING: Children's hospital and university laboratory. PARTICIPANT: One teenager. INTERVENTIONS: Diagnosis and treatment with carnitine. MEASUREMENTS/MAIN RESULTS: Assay ornithine transcarbamylase deficiency had normal results. The diagnosis was confirmed by DNA analysis, which revealed homozygosity for prevalent mutation (the adenine to guanine transition at position 985). CONCLUSIONS: Patients with a clinical diagnosis of Reye's syndrome have, in general, an inborn error of metabolism. Medium-chain acyl Coenzyme A dehydrogenase deficiency and other disorders of fatty acid oxidation may present long after infancy. They may mimic the presentation of defects in the urea cycle.

Adolescent↗
PubMed1991

Dissociation in ambidextrous students.

95 students completed Bernstein and Putnam's Dissociative Experiences Scale and Annett's Handedness Questionnaire. Greater dissociation was statistically associated with ambidexterity of these undergraduates.

Adult↗
PubMed1989

Human fetal dopamine neurons grafted into the striatum in two patients with severe Parkinson's disease. A detailed account of methodology and a 6-month follow-up.

By using stereotaxic surgical techniques, ventral mesencephalic tissues from aborted human fetuses of 8 to 10 weeks' gestational age were implanted unilaterally into the striata in two patients with advanced Parkinson's disease. The patients were treated with a cyclosporine, azathioprine, and steroid regimen to minimize the risk for graft rejection. They were examined for 6 months preoperatively and 6 months postoperatively and continued to receive the same doses of antiparkinsonian medication. There were no significant postoperative complications. No major therapeutic effect from the operation was observed. However, in the clinical tests, both patients showed small but significant increases of movement speed for repeated pronation-supination, fist clenching, and foot lifting. The rate of walking also increased in the one patient tested. For both patients, there was an initial worsening postoperatively, followed by improvement vs preoperative performance at 1 to 3 months. Both patients also showed significant improvement in the magnitude of response to a single dose of levodopa (L-dopa), but there was no increase in the duration of drug action. The motor readiness potential increased in both patients postoperatively, primarily over the operated hemisphere. Neurophysiological measurements also showed a more rapid performance of simple and complex arm and hand movements on the side contralateral to transplantation in one patient at 5 months postoperatively. Positron emission tomography demonstrated no increased uptake of 6-L-(18F)-fluorodopa in the transplanted striatum at 5 and 6 months. Taken together, these results suggest that the fetal nigral implants may have provided a modest improvement in motor function, consistent with the presence of small surviving grafts. Although our results support further scientific experimentation with transplantation in Parkinson's disease, widespread clinical trials with this procedure are probably not warranted at this time.

Contingent Negative Variation↗
PubMed1987

Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation.

Experience with liver transplantation for patients with Wilson's disease who have major neurological impairment is limited, and this report describes the results obtained in two such patients. The first was a 30-year-old man with a 14-month history of hepatic and neurological impairment. In spite of treatment with d-penicillamine, he developed increasing dysarthria, dysphagia, akinesia and rigidity of all four limbs, and required continuous nursing care. Following transplantation, liver function was almost normal from four weeks onwards, but recovery of neurological function was much slower and was not seen until two to three months after surgery. By four months he was sufficiently mobile to be discharged, and when he returned for assessment at eight months, no abnormal neurological signs were detectable. The second patient was a 27-year-old woman with worsening liver dysfunction for eight years; one year previously she had developed dysarthria, akinesia, a fine tremor and moderate rigidity of all limbs as well as marked psychological impairment. There was no improvement on treatment with d-penicillamine or trientine, but as liver function returned to normal two months after liver grafting, her neurological and psychological function began to improve so that by three months she could be discharged.

Adult↗
PubMed1986

Transcutaneous estimation of arterial carbon dioxide in intensive care. Which electrode temperature?

Transcutaneous and arterial carbon dioxide were measured simultaneously in 57 children (age range 10 days to 14.3 years) undergoing intensive care. All were haemodynamically stable at the time of study. Mean calibration time with 5 and 10% carbon dioxide was 43 (range 38-58) minutes and mean arterialisation time was 10.5 (range 3-30) minutes. Duplicate hourly arterial samples over a four hour period showed that transcutaneous: arterial carbon dioxide correlation was independent of electrode temperatures over the range 42-44 degrees C and was independent of child age. One and a half hours after electrode placement transcutaneous carbon dioxide (kPa) = arterial carbon dioxide X 1.41 + 0.02. Use of a simple ratio (arterial carbon dioxide = transcutaneous carbon dioxide/1.40) resulted in a mean estimate of arterial carbon dioxide within 3% of the actual value with coefficients of variation of 11 and 15% at 1.5 and 4.5 hours, respectively. For prediction of arterial carbon dioxide 95% confidence limits around the regression mean rose from +/- 1.04 kPa (7.8 mm Hg) at 1.5 hours to +/- 1.56 (11.7 mm Hg) at 4.5 hours. Baseline drift was more than +/- 0.67 kPa (5 mm Hg) during 22% of the studies. For a drift of less than 0.67 kPa 95% confidence limits were 0.87 and 1.12 kPa, respectively. Arterial carbon dioxide can be estimated with clinically acceptable tolerances from surface electrodes operating at temperatures between 42-44 degrees C. Improved electrode stability and speed of calibration should make this a valuable monitoring technique.

Adolescent↗
PubMed1986

Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

We review a family in which a mother and two of her three children suffered a distinct syndrome of thoracic dystrophy with small chest volume, laryngeal stenosis, normal stature with variable asymmetry, asthenic build, and a small pelvis. In addition to the different inheritance pattern, this syndrome is distinguished from the better known Jeune syndrome by the differing thoracic and pelvic configuration.

Abnormalities, Multiple↗
PubMed1985

Transcutaneous oxygen and carbon dioxide monitoring in intensive care.

Transcutaneous oxygen (TcPo2) and carbon dioxide (TcPco2) tensions were compared with arterial values in 23 children aged 4 months to 14 years, all requiring some form of respiratory support, but not in shock. Electrodes were placed on the upper chest and were heated to 45 degrees C. For TcPo2 and arterial oxygen (Pao2) a tight linear correlation over the range 6 to 14 kPa was found. Arterial carbon dioxide (Paco2) ranged between 2.63 and 6.8 kPa, and over this range a linear regression adequately described the relation of TcPco2 to Paco2. No effects of age were found for the relation between TcPo2 and Pao2. Over a four hour period, the mean ratio TcPo2/Pao2 rose significantly from 0.96 to 1.04, while the mean ratio of TcPco2/Paco2 fell from 1.65 to 1.62. Five children developed superficial burns which were still present at 48 hours. In children who require respiratory support but are not in shock, TcPo2 and TcPco2 bear a constant and predictable relation to Pao2 and Paco2, and can predict arterial values within clinically acceptable tolerances.

Adolescent↗
PubMed1978

Nasal polyposis in children.

In this study, the cases of patients under age 18 who had been admitted to the hospital over a five-year period for nasal polypectomy were reviewed for evidence of allergy or other possible predisposing conditions. Two of the children had cystic fibrosis and one had Kartagener's syndrome. Of the remaining 21 patients, 12 (57%) had four or more positive criteria for allergic disease, out of eight criteria considered. It is concluded that in the majority of children with nasal polyposis, allergy can be implicated as a causative factor.

Adolescent↗