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Biomedical subjects

R W Watts

Publications and source records attributed to R W Watts.

At least 109 records · Page 6Linked to original sources
PubMed1980

Organic acidurias and amino acidurias in the aetiology of long-term mental handicap.

In order to evaluate the contribution of patients with organic aciduria and amino acidopathies to populations with severe long-term mental handicap, urine from a total of 1,778 such patients from four hospitals has been examined for organic acids and amino acids. The patients have been classified into eight groups according to the nature of their handicap. It is concluded that, apart from phenylketonuria originating from before dietary treatment was available, known inherited metabolic diseases do not contribute significantly to the incidence of mental handicap in the population studied.

Amino Acid Metabolism, Inborn Errors↗
PubMed1980

Glaucoma in a case of Hurler disease.

The electron microscopic appearances of the corneoscleral and iris tissue removed at operation from a child with Hurler disease and glaucoma showed distinctive swollen cells with intracellular inclusions similar to those which are observed in other tissues in these patients and which are due to abnormal lysosomal storages of mucopolysaccharides. Some recent observations on the possible relationship between mucopolysaccharides and the drainage of fluid from the anterior chamber are briefly reviewed and correlated with the present observations. The development of glaucoma in this patient is thought to be associated with the presence of the mucopolysaccharide-containing cells in the region of the aqueous drainage channels.

Child↗
PubMed1980

Retroperitoneal fibrosis and scleroderma.

The association of retroperitoneal fibrosis and systemic sclerosis is reported from a patient positive for the HLA-B27 antigen. This appears to be the first report of such an association. Pathological features common to the 2 syndromes are discussed and the literature is reviewed.

Female↗
PubMed1979

Problems in the behavioural treatment of self-injury in the Lesch-Nyhan syndrome.

The results are described of a behavioural programme designed to modify self-injurious behaviour of a child with Lesch-Nyhan syndrome. The treatment combined extinction of the injurious behaviour and reinforcement of alternative behaviour, and was successful in the controlled hospital environment. However, an attempt to teach the parents to continue the treatment at home failed. The results are discussed in terms of the possible relationship between organic and environmental factors in maintaining the injurious behaviour, and the importance of analysing both the behaviour itself and the factors (including familial) maintaining it. It is suggested that parents should be advised about management of behavioural problems at an early age.

Behavior Therapy↗
PubMed1979

Studies on some possible biochemical treatments of primary hyperoxaluria.

The effects of some putative inhibitors of oxalate production or urinary oxalate excretion have been investigated in the Cynamolgus monkey and in patients with Type I primary hyperoxaluria (hyperoxaluria with glycollic aciduria). Sodium-1-hydroxybutan-sulphonate, D,L-phenyllactate, succinimide and isocarboxazide did not reduce the urinary oxalate excretion in the monkeys. Pyridoxine reduced the excretion of oxalate and glycollate in some patients, and its therapeutic use has been documented over a five-year period. Succinimide, which has been used by other workers for the treatment of non-hyperoxaluric stone formers, did not decrease the excretion of either oxalate or glycollate in three patients in whom it was tried. It did not change the inhibitory activity of the urine with respect to the growth and aggregation of calcium oxalate crystals in any of the three patients, and it did not have any consistent effect on the excretion of calcium oxalate crystals in the one patient who had detectable crystaluria before treatment. We have identified several metabolites of succinimide in the urine of patients taking the drug. These include 2,3-dehydrosuccinamic, 2-hydroxysuccinamic and 3-hydroxysuccinamic acids. Isocarboxazide, cholestyramine and thiamine did not affect the urinary oxalate excretion in the patients. The significance of these observations from the viewpoint of the treatment of primary hyperoxaluria is discussed.

Adolescent↗
PubMed1979

Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.

Hyperuricaemia in Down's syndrome is unreleated to the activity of phosphoribosylamidotransfrease, which catalyses the activity of the first specific step on the purine biosynthetic pathway, and to the activity of hypoxanthine phosphoribosyltransferase and phosphoribosylpyrophosphate synthetase, abnormalities of which are known to be associated with hyperuricaemia. Immunological studies involving serum immunoglobulins, natural E. coli antibodies, test immunization with pneumococcal polysaccharide type III (PnPS), in vitro lymphocyte transformation to mitogens, and pokeweed mitogen (PWM) induced immunoglobulin production showed no difference between hyperuricaemic or normouricaemic Down's patients and institutionalized controls. The Down's patients had higher serum IgA, IgG and IgE, and some also produced more immunoglobulin in PWM-stimulated lymphocyte cultures when compared to normal healthy controls. However, both patients with Down's syndrome and the institutionalized controls had significantly lower responses to PnPs than normal healthy controls. The only deficiency confined to the Down's patients was a signficant depression in delayed hypersensitivity to dinitrochlorobenzene. These findings indicate that the in vivo abnormality of depressed cellular and humoral immunity in Down's patients is not paralleled by in vitro function as measured by PHA lymphocyte transformation and immunoglobulin production by PWM-stimulated lymphocytes. There is also no apparent link between a putative defect in purine metabolism in Down's patients and any immunological abnormalities.

Adolescent↗
PubMed1979

A new variant form of phenylketonuria.

We report a family (parents and two sets of twin girls) in which the propositus presented as a case of phenylketonuria with a somewhat less severe degree of phenylalanine intolerance than occurs in patients with classical phenylketonuria and whose phenylalanine tolerance was further impaired by giving cotrimoxazole. The trimethoprim component of cotrimoxazole reduces the phenylalanine tolerance of normal subjects but does not augment the degree of phenylalanine intolerance in patients with classical phenylketonuria. The results of the present study of the phenylalanine tolerance and the way in which cotrimoxazole modifies it in the members of this family are compatible with the segregation of an abnormal gene which causes a previously unrecognized type of phenylketonuria when it is present in the homozygous state. The possible relationship of this to other inherited biochemical lesions of the phenylalanine hydroxylase system is briefly discussed.

Adult↗
PubMed1979

Some inherited lysosomal enzyme defects with special reference to the liver and prospects for their control.

Lysosomes are subcellular organelles which contain hydrolytic enzymes. These enzymes catalyse the degradation of macromolecules which are: I. taken into the cell by endocytosis; II. derived from the cells own structural components by autophagy; III. unused secretory products in the case of exocrine or endocrine cells. Each of the lysosomal storage diseases is due to the mutation of a gene which directs the synthesis of a specific lysosomal enzyme. This alters the catalytic activity of the enzyme and specific, incompletely degraded, macromolecules accumulate. The lysosomal enzymes pass from cell to cell by a combination of exocytosis and endocytosis, and this makes enzyme replacement therapy potentially feasible. The on-going trial of fibroblast transplantation as a means of enzyme replacement for the treatment of Pfaundler-Hurler disease in the author's laboratory, is briefly described.

Endocytosis↗
PubMed1978

Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro.

Biochemical and clinical studies on a patient with hepatic glycogen storage disease are reported. The patient showed many of the clinical and biochemical features of type I glycogenosis (glucose-6-phosphatase deficiency), but had normal activities of the following enzymes in liver tissue: glucose-6-phosphatase (EC3.1.3.9); amylo-1,6-glucosidase (EC3.2.1.33); glycogen phosphorylase (EC2.4.1.1); fructose-1,6-diphosphatase (EC3.1.3.11). The urinary excretion of 2-oxoglutaric acid was greatly increased in this patient and in a case of enzymologically proven type I glycogenosis. Abnormal 2-oxoglutaric aciduria has not been previously reported in the glycogen storage diseases. The results are discussed in relation to the possible nature of the underlying biochemical defect in patients of this type.

Fructose-Bisphosphatase↗
PubMed1978

Screening for urinary oligosaccharides: a quantitative procedure.

A method for screening urine for abnormalities in glycoconjugate excretion is presented. An oligosaccharide-containing fraction is isolated from urine by gel chromatography and the carbohydrate-containing components in this fraction are degraded to monosaccharides, suitable derivatives of which are analyzed by gas-liquid chromatography. A pattern which characterizes the monosaccharides originating in complex carbohydrates in urine is thus obtained. Data obtained by applying this method to normal subjects in various age groups are presented and the applicability of the method and its limitations are illustrated by the use of examples from patients with previously diagnosed disorders of glycoconjugate metabolism.

Adolescent↗
PubMed1978

Screening for urinary oligosaccharides: application to a mentally handicapped population and to patients with some other diseases.

The method for screening urinary oligosaccharides described in the accompanying paper [Clin. Chem. 24, 669 (1978)] has been applied to a large group of mentally handicapped patients as well as to patients with cystic fibrosis, malignant disease, and schizophrenia. The cause of the mental handicap was unknown in most cases. The primary object of the study was to investigate a possible link between some diseases and urinary complex carbohydrates. Our results show that abnormalities that are detectable in this way do not contribute significantly to the overall incidence of mental handicap, nor are they expressed in the other diseases studied.

Adolescent↗