Biomedical subjects
Publications and source records attributed to H A Taylor.
We report on a 3-year-old boy with a terminal deletion of 22q. The activity of alpha-N-acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55.
Subjects studied maps with the expectation that they would draw or describe them from memory. In fact, subjects did both. Order of drawing or describing landmarks revealed the mental organization of environments. Organization was quite similar across maps and descriptions of the same environments, revealing hierarchical structures based on spatial and functional features of the environments and on conventions for sequencing the landmarks.
DNA from a male fetus with an interstitial deletion of 7q22 [(46,XY,del(7)(pter----q22.10::q31.10----qter)] was analyzed using probes in this region of 7q. The results localize plasminogen activator inhibitor type I (PLANH1) to 7q22.1----q22.3 and beta-glucuronidase to band 7q21.11.
Tversky and Kahneman (1983) showed that when subjects are asked to rate the likelihood of several alternatives, including single and joint events, they often make a "conjunction fallacy." That is, they rate the conjunction of two events as being more likely than one of the constituent events. This, they claim, is a fallacy, since the conjunction of two events can never be more probable than either of the component events. In addition, they found that prior training in probability theory does not decrease the likelihood of making this fallacy. We argue that in some contexts, an alternative that contains the conjunction of two events can be more probable than an alternative that contains only one of the conjunction's constituent events. We carried out four experiments in which we manipulated this context. The frequency of making a conjunction fallacy was affected by the manipulation of context. Furthermore, when the context was clearly specified, prior training in statistics influenced the ratings.
A 28-month-old black male died with severe complications of mental and motor deterioration, seizures, and aspiration. Autopsy demonstrated moderate liver enlargement, normal spleen and kidneys, small testes, and a grossly normal brain. Further examination showed irregular macrogyrae with evidence of a storage or sclerotic process. Thin layer chromatography of the lipids in formalin-fixed tissue demonstrated elevated levels of ceramide trihexoside and possibly sulfatides in liver and a decrease in the ratio of galactosylceramide to sulfatide in brain. Examination of the gangliosides in formalin-fixed brain indicated a slight increase in the percentage of GM1 ganglioside and a clear elevation in GM2 and GM3 gangliosides. Cultured skin fibroblasts had a normal activity for a large number of lysosomal enzymes including arylsulfatase A and galactocerebrosidase. When the cells were loaded with [14C]sulfatide only about 12% of the sulfatide was metabolized after 3 days. Extracts of the cells were subjected to SDS-PAGE and immunoblotting with antisphingolipid activator protein-1 (SAP-1) rabbit antiserum, and no cross-reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP-1 deficiency. This patient was clinically more severe than the other patients described previously with this deficiency. Further studies are underway to define the nature of the mutation in this patient.
Left main coronary artery disease (i.e., greater than or equal to 50% stenosis) was found in 1,477 of 20,137 patients in the Coronary Artery Surgery Study (CAS) registry. Of these patients, 53 (3.6%) were asymptomatic. Asymptomatic and symptomatic patients were similar in regard to 1) severity of left main coronary artery stenosis (67% vs. 70%), 2) extent of proximal coronary artery disease (no differences in number of or severity of proximal stenoses), 3) left ventricular end-diastolic pressure (13 mm Hg vs. 14 mm Hg), 4) left ventricular wall motion score 9.1 vs. 8.7), and 5) number of coronary artery segments with greater than 70% stenosis (4.4 vs. 4.8). Among the asymptomatic patients, 47% received medical and 49% received surgical treatment. In the symptomatic group, 20% received medical and 78% received surgical therapy. The survival rate 5 years after surgery for treatment of left main coronary artery stenosis was 84% for the symptomatic patients and 88% for the asymptomatic patients (p = NS). Medical management of left main coronary artery disease produced a 5-year survival rate of 57% for asymptomatic patients and 58% for symptomatic patients. Within the asymptomatic subgroup, 88% of those surgically treated survived 5 years, whereas only 57% of those medically treated survived 5 years (p = 0.02). Thus, for CASS patients with left main coronary artery disease, the percentage of those that were asymptomatic is low (3.6%); asymptomatic and symptomatic patients with left main coronary artery disease had no significant difference in severity of left main coronary artery stenosis, extent of overall coronary artery disease, or left ventricular function.(ABSTRACT TRUNCATED AT 250 WORDS)
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from the earlier literature are reviewed to delineate this condition. Clinical features including sparse, white hair, coarse facies, hepatosplenomegaly, profound inactivity, diarrhea, and anemia permit early diagnosis of this neurovisceral storage disease. Osseous stippling may be present and clear vacuoles may be demonstrated in lymphocytes and cultured fibroblasts. The course is one of relentless deterioration with death in early childhood. Specific diagnosis depends on demonstration of elevated free sialic acid in urine and cell lysates.
Monitored clinical studies conducted in 1133 patients, involving 3928 patient years of experience with probucol, have shown that it is an effective cholesterol lowering agent and is well tolerated during long term administration (some patients treated for as long as nine years). The incidence of morbidity and mortality in patients treated with probucol is in the expected range. Although a possibly protective action is suggestive against certain endpoints, the lack of long term parallel placebo groups does not allow for a statistical contrast of the results. Therefore, it is preferable to limit conclusions to observing that no excess of cardiac deaths, sudden deaths or cardiac morbidity occurred in probucol treated men with or without ischemic heart disease compared with men not receiving probucol.
Explore the source record for details and available documents.
The lowering effect of probucol on plasma cholesterol was confirmed in 1 133 patients. The study covered 9 years and approximately 4 000 patient-years. The daily dosage of probucol was 1 g divided into two 500 mg doses. On average, plasma cholesterol values decreased from 300 mg/dl to about 240 mg/dl. There was no tendency to escape. The study also included measurements of plasma probucol in patients under long-term treatment. The drug was generally well tolerated; the only complaints were episodes of loose stools or diarrhea which did not usually oblige to interrupt treatment. The morbidity and mortality rates in these 1 133 patients were compared with those of two major epidemiological surveys: the Coronary Drug Project and the WHO studies. Statistical analysis was impossible, as our long-term trial did not include patients under placebo. However, no unexpected overall excess of mortality was observed with long-term probucol treatment; there was no increase in morbidity, nor in sudden deaths or deaths from coronary disease. These findings apply equally to patients with or without a history of coronary disease prior to their entry into the trial.
Prenatal exposure to oral anticoagulants during pregnancy may result in defective fetal development or life-threatening hemorrhage. Fetal exposure during the first eight weeks of pregnancy may cause abnormal development of the facial structures, hypoplastic digits, strippled epiphyses, and mental retardation. Midtrimester exposure may result in optic atrophy, faulty brain growth, and developmental retardation. Third-trimester exposure may produce fetal anticoagulation, predisposing the infant to life-threatening hemorrhage in the perinatal period. Anticoagulation with heparin sodium does not provide a clearly safe alternative, since this therapy has been associated with excessive fetal loss.
Two adults with beta-galactosidase deficiency were studied. Differences in a number of beta-galactosidase parameters (pH optima, heat denaturation, NaCl kinetics) were noted between the patients. Differences were also noted in beta-galactosidase electrophoretic mobilities and urinary oligosaccharides; however, there was no complementation in cell fusion studies. It is suggested that these two patients have different primary mutations at the beta-galactosidase locus which are probably structural in nature.
A case of trisomy for a portion of the long arm of chromosome 6, secondary to recombination of a maternal pericentric inversion, is presented. The pericentric inversion was documented in three generations of a family with a number of spontaneous abortions and periinatal deaths.
A syndrome of multiple anomalies associated with growth failure and delayed development is described. The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, cleft palate, micrognathia, and abnormal pinnae. Other features include vertebral and costal anomalies, cardiac defects, and a peculiar malformation of the hands. At least five other cases of this condition, all occurring in males, may be found in medical reports. The finding of incomplete expression in three maternal relatives of our patient provides evidence for a genetic cause.
The establishment of cultured cell lines from skin biopsies stored at -196 degrees C for periods up to 1 year has been investigated. Attempts to initiate cell cultures from the frozen tissue samples were uniformly successful. There was no alteration in chromosome constitution, morphological appearance, or specific activities of lysosomal enzymes in cells cultured from the stored samples. This process can safeguard against failure of the initial tissue culture and provide an alternate means of storing viable cells when it is impossible or impractical to initiate a cell culture immediately.
Explore the source record for details and available documents.