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Biomedical subjects

P M MacLeod

Publications and source records attributed to P M MacLeod.

At least 37 records · Page 2Linked to original sources
PubMed1988

The effect of cisplatin on renal function in patients with testicular tumours.

A retrospective study was carried out on the immediate and delayed effects of cisplatin on renal function. 51Cr EDTA clearance was serially measured in 22 patients with testicular tumours treated with cisplatin based chemotherapy to a cumulative dose of 180 to 900 mg. The immediate effect of one to five courses of cisplatin was a 23% reduction in glomerular filtration rate (GFR) from a mean of 137 +/- 29.5 ml/min to 106 +/- 33 ml/min (P less than 0.01). Of 17 patients who were followed up from 6 to 60 months, five showed some recovery of function. Two of these five had complete recovery and three improved from a mean of 63% of initial clearance to 76% after 18 to 48 months. Seven patients showed no further change in function, the clearance remaining at a mean of 105 ml/min after 6 to 55 months and five demonstrated a further decrease in glomerular filtration rate, by a mean of 24 ml/min, after 6 to 60 months. We have concluded that there is an inevitable reduction in glomerular filtration rate with cisplatin chemotherapy. Full recovery of function is unusual and in some cases there is further deterioration without exposure to additional nephrotoxic agents.

Adolescent↗
PubMed1986

Juvenile xanthogranuloma of the iris managed with superficial radiotherapy.

A case of juvenile xanthogranuloma involving the iris successfully managed with superficial radiotherapy is presented. A review of the literature suggests that this benign condition, if progressive or extensive, is optimally treated with radiotherapy as an alternative to major surgical procedures, including enucleation.

Female↗
PubMed1986

Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.

A family is described in which Charcot-Marie-Tooth disease is inherited as an X-linked dominant mutation (CMT2). Ten DNA marker loci on the X chromosome were used to map the disease locus by linkage analysis. The DXYS1 sequence at Xq13 was found to be linked to the CMT2 locus at an estimated distance of 6 cM (Zmax = 2.87 at theta max = 0.06). The data also suggested close linkage of the CMT2 locus to PGK1 (Zmax = 1.51 at theta max = 0) which has also been mapped to Xq13. Another DNA locus (DXS3), in the Xq21.3----Xq22 region, did not show close linkage (Zmax = -2.231 at theta max = 0.01). We conclude that the CMT2 locus is probably in or close to band Xq13.

Charcot-Marie-Tooth Disease↗
PubMed1986

Xp21/autosome translocations. Case report and risk for Duchenne muscular dystrophy.

An isolated case of Duchenne muscular dystrophy in a 15-year-old retarded girl with a de novo t(X;2) (p21.2;q37) translocation is described. Her clinical history is presented, with particular emphasis on CK level determinations made at several different times during her development. The similarities between this patient and previously reported females with Duchenne muscular dystrophy are discussed with reference to de novo translocations with a breakpoint at Xp21 and the risk of DMD in such females.

Adolescent↗
PubMed1985

Prenatal diagnosis of neuronal ceroid-lipofuscinoses.

We report on the successful prenatal diagnosis of the late infantile "Jansky-Bielschowsky" variant of the neuronal ceroid-lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques. About one-third of a subpopulation of dark, elongated cells contained one or more deposits of curvilinear cytosomes bound by a single unit membrane. These findings were considered typical of the late infantile variant of NCL. After delivery at term, a skin punch biopsy and a buffy coat preparation from the baby were examined and found to have similar characteristic inclusions, which confirmed our prenatal diagnosis.

Biopsy↗
PubMed1984

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.

A family is described in which four affected males, spanning two generations, have hyperuricemia and gout accompanied by hematuria but are without severe neurologic involvement. The affected males were found to have markedly reduced levels of erythrocytic hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity; these were 5-12% with hypoxanthine and 0.5-3% with guanine as compared to controls. Erythrocytic adenine phosphoribosyltransferase (APRT) was approximately three-fold elevated in the affected individuals. The residual HGPRT activity in affected males enabled characterization of some of the properties of this mutation. The apparent Michaelis constants (km) for both hypoxanthine and guanine were essentially unchanged, whereas the km for PP-ribose-P was approximately 10-20-fold elevated for all four affected males. The enzyme was more sensitive to product inhibition by IMP and GMP than controls, and exhibited greater thermal lability at 65 degrees C than found with control lysates.

Adult↗
PubMed1981

Intrinsic defects in the fetal alcohol syndrome: studies on 76 cases from British Columbia and the Yukon Territory.

Children diagnosed as FAS using standard criteria of maternal alcoholism, poor growth, delayed development and characteristic facial appearance underwent an investigative protocol involving skeletal x-ray surveys, cardiac assessments and intravenous pyelograms (IVP). Significant skeletal findings included cervical spine fusion in 20 of 46 children (43%), x-ray confirmation of microcephaly in 26/49 (53%) and abnormal thoracic cage development in 13/48 (27%). Thirty-nine of 54 children (72%) demonstrated a characteristic tapering of the shaft and occasional associated prominence of the tuft of the distal phalanges Bone age was delayed 2 standard deviations or greater in 14 of 51 children (27%). Cardiac lesions were found in 31 of 76 (41%) and a further 12 (16%) had functional murmurs. Lesions were ventricular septal defect 20 (26%), Tetralogy of Fallot 4 (5.1%), plus a variety of less frequent abnormalities. IVP's were limited to 19 random cases with 5 (26%) showing alterations from the normal. Cervical spine abnormalities of FAS as compared to the Klippel-Feil Syndrome are dissimilar and probably represent a different entity. Hand and lateral cervical spine x-ray studies are felt to be a useful adjunct to the diagnosis and management of the fetal alcohol syndrome.

Abnormalities, Drug-Induced↗
PubMed1980

Failure of aminooxyacetic acid therapy in Huntington disease.

Seven patients with Huntington disease were treated with aminooxyacetic acid (AOAA), an inhibitor of gamma-aminobutyric acid aminotransferase (GABA-T), in an effort to alleviate symptoms by increasing brain GABA content. AOAA was given orally in a placebo-controlled crossover trial in which patients, relatives, and three of the evaluating physicians remained blind. Toxic symptoms occurred in all seven patients when AOAA dosage was increased beyond 2 mg per kilogram per day, and included drowsiness, ataxia, seizures, and psychotic behavior. In five patients who took AOAA for 4 months, no clinical improvement was observed. Biochemical monitoring showed that less inhibition of hepatic GABA-T enzyme activity was achieved than in patients treated with large doses of isoniazid. Results of this trial neither support nor exclude the possible therapeutic usefulness of increasing brain GABA content in Huntington disease.

Acetates↗