Showing papers by "Guy's and St Thomas' NHS Foundation Trust published in 1978"

Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.

Abstract: 1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism: purine nucleoside phosphorylase deficiency, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency. 2. The abnormal purines identified in each case were specific for the defect and directly related to it: adenine in adenine phophoribosyltransferase deficiency; the abnormal nucleosides inosine, guanosine and their corresponding deoxyribosides in purine nucleoside phosphorylase deficiency; deoxyadenosine in adenosine deaminase deficiency, the latter having previously been identified erroneously as adenine after degradation in the acidic conditions used. 3. Deoxyriboside excretion was specific for the two defects associated with immunodeficiency; adenine for adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine urolithiasis. The results obtained by a quantitative method were reflected in a simple rapid qualitative technique, isotachophoresis of the urine. 4. Purine overexcretion (principally inosine) was evident only in purine nucleoside phosphorylase deficiency, which emphasizes the importance of hypoxanthine salvage for the overall control of purine production in man. In none of these disorders was any inhibition of pyrimidine biosynthesis as reflected by oroticaciduria noted. Orotic acid excretion was within normal limits in all cases. 5. From these results it is suggested that the associated immunodeficiency in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency relates directly to the intracellular accumulation of 2′-deoxyribosides and not indirectly to an inhibitory effect on pyrimidine metabolism.

Primary care treatment of emotional problems in an HMO.

Abstract: Integrating mental health services into primary care should improve the availability, access, and delivery of psychiatric care to the whole population. Health maintenance organizations (HMOs) are settings for the development of integrated medical-mental health services. This paper reports findings of a project to evaluate a team collaborative model in an HMO. In this model, primary care clinicians carry major responsibility for emotional problems of their patients, and mental health clinicians collaborate with and support primary care clinicians as well as treat referred patients. Over a two-year study period, 15.7 per cent of all patients who visited the HMO presented a mental or emotional difficulty. When psychotropic drug prescriptions were used as an unobtrusive measure for estimating underenumeration, this prevalence figure rose to 19 per cent. Primary care clinicians treated an increasing proportion of the emotional problem demand, although this increase could not be attributed only to the establishment of the team collaborative model. Findings concerning the psychiatric problems treated and psychotropic drugs prescribed by primary care clinicians are also presented. We conclude that the primary care clinicians did assume major responsibility for emotional problem treatment when encouraged and supported through the team collaborative process and other organizational arrangements.

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: Pitfalls of diagnosis

Abstract: Adenineis not a normal constituent of body fluids(Simmonds 1969) and is usuallyexcretedat levels belowthe limitof detection by most methods.The identificationof adenine in quantity in the urine of a 2!-year-old boy (8 Dh) (Simmondset al. 1976a) was the first indication that led to the correct identification of crystals and stones passed since birth by this child as 2,8dihydroxyadenine, and not uric acid.An identicalcasewas reported independentlyin a 4-yearold boy in France (Cartier & Hamet 1974). Here, too, the stones had originallybeen identified as uric acid stones. The metabolicbasis for the defectwas later identified in both casesas being due to an almost total defect of the adenine salvage enzyme, adenine phosphoribosyltransferase(EC 2.4.2.7, APRT) (Debray et al. 1976, Van Acker et al. 1977). This paper reports the identification of 2,8-dihydroxyadenine as the principalcomponent in stones taken from the renal pelvis and ureter of a 19-month-old Arab girl (S Rz), The difficulties inherent in the usual methods of stone analysis, whichlead to the confusion of these stones with uric acid stones, are pinpointed. Since early diagnosis could be important therapeutically in these children, two separate systems which could assist in the correct identification of the stone material are reported (Westbury& Omenogor 1970).