Fabry's disease: a multidisciplinary disorder

Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.     

Two measures of nurses' attitudes toward abortion as modified by experience

Random samples of nurses in two states which differed in abortion statues were sent questionnaires. Content areas included experience with 12 specific nursing activities associated with abortion, willingness to participate in the same activities, and extent of agreement with statements related to abortion. Attitudes toward abortion were inferred from the willingness-to-participate items and from the agreement section. These two measures correlated highly suggesting a common underlying dimension. However, the two samples differed significantly in extent of agreement but did not differ in willingness to participate. These results were interpreted as supporting the position that attitudes derived from items using situational contexts might bear a better relationship to behavior. The findings also suggest that abortion facilities can probably be staffed without violating personal preferences since so many expressed willingness to participate in at least some of the activities. Comparison across the two samples suggest that increased experience or even the potential for experience with abortion patients tended to increase the favorableness of attitudes toward this issue.     

Reproducibility of the first-phase insulin response to intravenous glucose is not improved by retrograde cannulation and arterialization or the use of a lower glucose dose

OBJECTIVE: To determine whether the reproducibility of the first-phase insulin response (FPIR) measured during an intravenous glucose tolerance test is improved by the use of a lower glucose dose or retrograde sampling from an arterialized hand vein. RESEARCH DESIGN AND METHODS: Previous studies have suggested that the high within-subject variation of FPIR measurement of up to 110% could be reduced by sampling from a retrograde cannulated and arterialized hand vein opposite to the cubital fossa vein through which the glucose was injected or by the use of a lower dose of glucose. Two low-dose (glucose, 5 g/m2 injected over 30 s) and two standard Islet Cell Antibody Registry Users Study (ICARUS) (glucose, 0.5 g/kg injected over 3 min) tests were performed on seven normal subjects at 2-week intervals. Samples were collected simultaneously from the cubital fossa vein, through which the glucose was injected, and from a retrograde cannulated, contralateral hand vein that was arterialized by heating. FPIR was expressed as the sum of the insulin measurements 1 and 3 min after the completion of the glucose injection and as the area under the insulin curve between 0 and 10 min. RESULTS: Responses to the mean sum of serum insulin concentrations at 1 and 3 min after intravenous glucose were significantly lower for the low-dose test (mean 94 mU/l) than for the high-dose test (mean 184 mU/l) for samples taken from the arm (P < 0.05); mean 0- to 10-min insulin areas were 367 and 596 mU/l for low- and high-dose tests, respectively (P < 0.05). Within-subject coefficients of variation for samples from the hand or the arm ranged from 0.33 to 17.5% and 1.3 to 38% for successive ICARUS and low-dose tests, respectively. Reproducibility, measured by the coefficient of variation between successive tests for each protocol, was not significantly different using samples taken from the arm or the contralateral hand. CONCLUSIONS: The intravenous glucose tolerance test is reproducible when performed by the same operator over a short time span. Reproducibility is not significantly improved by sampling from an arterialized, retrograde cannulated, contralateral hand vein. There is no case for changing the present ICARUS protocol to incorporate retrograde cannulation or low-dose (5 g/m2) glucose.     

The role of coloscopy in the differential diagnosis between idiopathic ulcerative colitis and Crohn's disease of the colon

The authors point out the striking significance of coloscopy in establishing a correct diagnosis of inflammatory diseases of the colon. In particular, the most valuable endoscopic features are indicated which may permit distinguishing between idiopathic ulcerative colitis and Crohn's disease of the colon. Differentiation between these two diseases cannot always be achieved by means of available diagnostic procedures other than coloscopy. Moreover, the endoscopic findings enable an assessment to be made of the extent, stage, severity and course of either disease. The authors' experience encompass 2,478 coloscopy examinations: the observed cases of idiopathic ulcerative colitis are 182, those of Crohn's disease of the colon are 104.     

Urinary amine alterations in drug-addiction pregnancy

Urinary amines were measured in 122 drug-addiction pregnancies. The profile of the patient indicates that 86 per cent were black and had a total of 2.98 pregnancies and 1.97 living children. She made 5.4 prenatal visits to our special drug-abuse prenatal clinic. The 208 antepartum 24 hour urine determinations indicated a mean excretion of epinephrine to be 28 +/- 1.6 mug which rises to 60 mug on the first day post partum. These values indicate increased adrenal gland activity and are more than six times greater than seen in normal pregnancy. The antepartum mean 24 hour urine excretion of norepinephrine is 49.7 +/- 2.6 mug which does not change on the first postpartum day. The antepartum norepinephrine values are 50 per cent higher than seen in normal pregnancy. Drug-addiction pregnancy in patients who are well controlled on methadone have markedly increased adrenal gland activity as evidence by increased levels of epinephrine. The sympathetic nervous system activity as evidenced by urinary norepinephrine is only slightly increased. Drug addiction alters the normal homeostatic mechanisms of pregnancy.