Multiple exostosis (osteochondroma) and Wilms' tumour--a possible association by Walker et al., 1991.
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Biomedical subjects
Publications and source records attributed to D A Walker.
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BACKGROUND: Knowledge of the sequences of mycobacterial genes and the availability of DNA amplification techniques have raised the possibility that identification of mycobacterial DNA may offer a rapid and specific diagnostic test for tuberculosis. The correlation between the presence of Mycobacterium tuberculosis DNA and clinical tuberculosis, however, is not known. This study compared the results of polymerase chain reaction amplification of two M tuberculosis DNA sequences, IS6110 and the gene encoding the 65kDa heat shock protein (65kDa Ag), from sputum, bronchoscopy washings, and bronchoalveolar lavage fluid and related these findings to the presence of active and past tuberculosis. METHODS: Highly specific primers were used for amplification of IS6110 and 65kDa Ag DNA. Analysis was performed on one or more samples from 87 patients. RESULTS: IS6110 DNA was identified in samples from all six patients with active tuberculosis, from 15 to 18 patients with past tuberculosis, from five of nine contacts of patients with tuberculosis, and from nine of 54 patients with lung disease unrelated to tuberculosis. The 65kDa Ag DNA was identified in samples from all patients with active and past tuberculosis, from contacts of patients with tuberculosis, and from 14 of 42 patients with non-tuberculous lung diseases. CONCLUSION: These data suggest that the presence of IS6110 DNA correlates more closely with a tuberculosis related diagnosis than that of 65kDa Ag DNA and that both DNAs are found in most subjects with past tuberculosis or contacts of patients with tuberculosis. This may limit the clinical usefulness of these tests.
Subcutaneous emphysema is an uncommonly reported complication of routine dentistry. Two cases are presented, one occurring during root canal therapy and the second during routine restorative dentistry. The etiology and consequences of this phenomenon are reviewed, and the prompt recognition and management of this condition are discussed.
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A long-term programme to reduce the incidence of Huntington's Chorea has been established in South Wales, based on a study of all individuals known to be affected or at high risk in a defined population of 1.7 million people. Systematic but non-directive genetic counselling is being given to all adults at risk, accompanied by regular follow-up to provide both further information and practical support where required. The number of observed and projected new cases of the disorder born between 1900 and 1970 has remained almost constant, despite a progressive reduction in birth-rate in the general population during this period. Prospective monitoring of all births in the high-risk population will allow an estimate to be made of future trends and will show whether preventive measures are having any significant effect on the future incidence of the disorder in the population.
1. Oxygen evolution by reconstituted chloroplasts with 3-phosphoglycerate as substrate was inhibited by ADP. This inhibition was overcome by increased concentrations of 3-phosphoglycerate or by the addition of excess ATP. 2. The initial rate of 3-phosphoglycerate reduction by chloroplast stromal extracts, measured as 3-phosphoglycerate-dependent oxidation of NADPH, was also dependent on the concentrations of 3-phosphoglycerate, ADP and ATP. 3. Within the range of concentrations of 3-phosphoglycerate, ADP and ATP expected to occur within intact chloroplasts, the rate of 3-phosphoglycerate (PGA) reduction by stromal extract was proportional to the ratio [ATP] [PGA]/[ADP]. 4. These results are consistent with the notion that the substrates and products of 3-phosphoglycerate kinase control the rate of 3-phosphoglycerate reduction via a mass action effect.
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Ten hospital outpatients with bilateral chronic simple glaucoma received a single drop of 2% pilocarpine to one eye and a continuous infusion of 0.1 % pilocarpine at a flow rate of 0.01 ml/min to the other eye (both solutions were at pH 7.2). On another occasion the treatments were reversed. Measurements of intraocular pressure (IOP) and pupil diameter were made at 30 min intervals for 2 hours. The continuous infusion of dilute solution was as effective as the single drop of more concentrated solution in reducing IOP and in constricting the pupil; the drop was somewhat faster in producing its effect.
Extracts from chloroplasts of spinach, sunflower and four other reductive pentose phosphate (C3)-pathway species were measured spectrophotometrically with or without a modified preactivation procedure. In all six species this modification yielded Km (CO2) values in the range of 7-15 micron and maximum velocities, at 20 degrees C, of 129-431 mumol of CO2 carboxylated/h per mg of chlorophyll. In general, both the carboxylation and electron-transport capacities of sunflower were somewhat greater than that of the other species, and this is discussed in relation to the superior rates of photosynthesis believed to be displayed by the parent tissue.
It may be concluded that the conversion of PGA to DPGA plays a key role in induction and in the regulation of cycle activity. The high concentrations of PGA in actively photosynthesizing chloroplasts reflect this role and the control exerted by adenylate ratios. Thus the cycle can operate at its maximum rate only in the presence of high PGA and low ribulose 5-phosphate concentrations. Once induction is complete, the reductive pentose phosphate pathway will continue to function at its maximum rate if sink activity within the cytoplasm makes available sufficient Pi to support rapid export of triose phosphate. If triose phosphate tends to build up in the straoma, it will favor pentose monophosphate accumulation. A relative excess of ribulose 5-phosphate would, in turn, inhibit PGA reduction (and hence its own formation) by drawing too heavily on the available ATP.
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Two families with hereditary hyperparathyroidism are described. One member of each family developed a parathyroid carcinoma. In one case this recurred locally and metastasised. This patient showed hyperplasia of one of the three other parathyroid glands. It is possible that the different parathyroid lesions found in familial hyperparathyroidism may be the result of a progression from hyperplasia to formation of benign or malignant tumours. The remainiing hyperplastic glands may be suppressed by hypercalcaemia. There was no evidence of multiple endocrine neoplasia in either family. Three members of a first family had ichthyosis and both affected members of the second had tumours of the jaw, one of which was an ossifying fibroma, suggesting a possible association of these conditions with familial hyperparathyroidism.
When envelope-free spinach chloroplasts are incubated with stromal protein, catalytic NADP, catalytic ADP, radioactive bicarbonate and fructose 1,6-bisphosphate, 14CO2 fixation starts immediately upon illumination but oxygen evolution is delayed. The delay is increased by the addition of fructose 6-phosphate and by a variety of factors known (or believed) to increase fructose bisphosphatase activity (such as dithiothreitol, more alkaline pH, higher [Mg] and antimycin A). Conversely, the lag can be decreased or eliminated by the addition of an ATP-generating system. Bearing in mind the known inhibition, by ADP, of sn-phospho-3-glycerate (3-phosphoglycerate) reduction it is concluded that the lag in O2 evolution results from the production of ribulose 5-phosphate from fructose bisphosphate and that this in turn inhibits the reoxidation of NADPH by adversely affecting the ADP/ATP ratio. The results are discussed in their relation to the mode of action of antimycin A and to regulation of the reductive pentose phosphate pathway.
Photosynthetic oxygen evolution by a reconstituted chloroplast system utilising sn-phospho-3-glycerol (3-phosphoglycerate) ceases upon the addition of ribose 5-phosphate even though the presence of this metabolite permits a rapid and immediate CO2 fixation. The period of cessation is appreciable at 0.1 mM ribose 5-phosphate. It is lengthened as the amount of added ribose 5-phosphate is increased and by the addition of dithiothreitol, a known activator of ribulose-5-phosphate kinase. Ribulose 1,5-bisphosphate is without effect. A similar interruption of O2 evolution may also be brought about by the addition of ADP or by ADP-generating systems such as glucose plus hexokinase. Spectrophotometric experiments indicate that the reoxidation of NADPH in the presence of sn-phospho-3-glycerol is similarly affected. The transient inhibition by ribose 5-phosphate is not observed in the presence of an active ATP-generating system or in the presence of sufficient DL-glyceraldehyde to inhibit ribulose-5-phosphate kinase activity. It is concluded that ribose 5-phosphate inhibits photosynthetic O2 evolution by adversely affecting the steady-state ATP/ADP ratio and consequently the reduction of sn-phospho-3-glycerol to glyceraldehyde 3-phosphate. The results are discussed in their relation to ADP regulation of photosynthetic carbon assimilation and metabolite transport.
Spinach chloroplast phosphoribulokinase is inhibited by DL-glyceraldehyde. The inhibition is non-competitive with respect to ribulose 5-phosphate (Ki 19mM) and ATP (Ki 20mM). The inhibition is discussed in relation to a previously reported inhibition of CO2 assimilation in intact and envelope-free chloroplasts by DL-glyceraldehyde. It is concluded that the inhibition of phosphoribulokinase is insufficient to account for the inhibition, by DL-glyceraldehyde, of O2 evolution with ribose 5-phosphate as substrate and that a further site of inhibition is also present in this system.
ADP was shown to inhibit phosphoglycerate-dependent O2 evolution in a simplified reconstituted chloroplast system containing 3-phosphoglycerate kinase and triose phosphate dehydrogenase. Rates of O2 evolution in the simplified system are comparable with those obtained by using stromal protein rather than purified enzymes. ADP does not inhibit O2 evolution with glycerate 1,3-biphosphate as substrate nor does it inhibit triose phosphate dehydrogenase. The inhibitory effect of ADP is attributed to an increase in the rate of conversion of glycerate biphosphate into phosphoglycerate. The results are discussed in terms of control by ADP of phosphoglycerate-dependent oxygen evolution.