Autosomal recessive idiopathic torsion dystonia in a kindred of mixed ancestry

A family with idiopathic torsion dystonia (dystonia musculorum deformans) was seen in a peripheral clinic in the Richtersveld in the north-western Cape. This rare inherited form of neurological disease has maximal prevalence in individuals of Ashkenazi Jewish ancestry, and there is controversy regarding the exact mode of inheritance. The kindred documented in this study was of mixed ancestry (Cape Coloured), and autosomal recessive inheritance was suggested by the finding of affected male and female siblings born to normal parents in an isolated inbred community.     

Assessment of caffeine exposure: caffeine content of beverages, caffeine intake, and plasma concentrations of methylxanthines

The caffeine content of all tea or coffee beverages consumed by 17 healthy adults over 24 hours was measured. Plasma caffeine, theophylline, theobromine, and paraxanthine concentrations were determined over the same 24 hours. The average caffeine content per drink was 60.4 +/- 21.8 mg for instant coffee (14-fold range), 80.1 +/- 19.2 mg for brewed coffee (2.8-fold range), and 28.8 +/- 13.7 mg for tea (5.5-fold range). The number of drinks of coffee and tea consumed was a poor index of actual caffeine intake (r2 = 0.42). Caffeine intake correlated poorly with the 24-hour average caffeine concentration (r2 = 0.41), but there was a very good correlation between a single plasma caffeine concentration measured at 5 PM and the 24-hour average concentration (r2 = 0.94). The same was true for paraxanthine (r2 = 0.86). Paraxanthine accounted for 67.3% of the total dimethylxanthines in plasma, while theobromine and theophylline accounted for 24.4% and 8.3%, respectively. Mean caffeine clearance was 1.2 +/- 0.3 ml/min/kg. Plasma caffeine concentration before the first drink in the morning correlated very poorly with caffeine clearance (r2 = 0.07), even when adjusted for caffeine intake (r2 = 0.21).     

Kinetic fluorometric determination of aluminum in serum

We describe a simple fluorometric method for determining aluminum in serum samples by monitoring the rate of reaction of 2-hydroxy-1-naphthaldehyde-p-methoxybenzoylhydrazone with aluminum ions. The emission of the resulting fluorescent metal-chelate formed is measured at 475 nm. Aluminum was measured in the supernate of serum after proteins were removed by precipitation with concentrated nitric acid, and calculations were based on the technique of standard additions. Within-run precision (CV) was 7.8% and 4.8% at mean aluminum concentrations of 7.7 and 60.7 micrograms/L, respectively (n = 10); between-run precision (CV) was 8.9% and 5.7% at mean aluminum concentrations of 23.3 and 46.8 micrograms/L, respectively (n = 10). The standard curve for the method is linear over the range of 0-250 micrograms of aluminum per liter. Samples from 49 patients were analyzed for aluminum by the proposed method (y) and by electrothermal atomic absorption spectroscopy (x). Linear regression analysis of the results yielded the equation y = 0.98x + 2.3 (r = 0.989, Syx = 6.7). The proposed method is comparable in sensitivity to the well-accepted atomic absorption spectrometric method but is simpler and less expensive.     

Assessment of value of glycosylated albumin and protein in detection of gestational diabetes

There is a recognized need for the early detection of gestational diabetes, and a single blood test, if reliable, would be advantageous. Because serum albumin and total protein are glycosylated and have short life spans, we investigated the usefulness of glycosylated albumin and glycosylated protein in the detection of gestational diabetes. We studied five groups, each with 20 subjects: nonpregnant and pregnant controls, nonpregnant and pregnant insulin-dependent diabetic (IDDM) patients, and gestational diabetic patients. All patients with no history of diabetes had an oral glucose tolerance test to define their carbohydrate status. Our results showed that percent glycosylated albumin and percent glycosylated protein were significantly elevated in both groups of IDDM patients compared with the other groups. However, gestational diabetic patients had glycosylated albumin and glycosylated protein values similar to those of both control groups. Both glycosylated albumin and glycosylated protein correlated well with HbA1c determinations. Thus, glycosylated albumin and glycosylated protein may be a good index of glycemic control, but they are of little value in the diagnosis of gestational diabetes because of a lack of sensitivity: 8 and 3% for glycosylated albumin and glycosylated protein, respectively.     

Choice of an ovarian stimulation protocol according to the follicular puncture method in an in vitro fertilization programme

In order to ascertain the adequacy of ovarian stimulation protocols with a type of follicular puncture, 126 women undergoing in vitro fertilization received either combination clomiphene/hMG or hMG alone according to a randomized test protocol. Within both groups patients for whom a pelvic examination was required had laparoscopies, while others had transvaginal ultrasonically guided punctures as far as possible. Clomiphene/hMG was more efficient than hMG alone as assessed from the cleavage rate (68% vs. 54%; p less than 0.01) and the pregnancy per attempt rate (16% vs. 5%; p less than 0.05). Laparoscopic punctures were more efficient than ultrasonically guided punctures (mean number of recovered oocytes: 4.8 +/- 2.6 vs. 3 +/- 2.5; p less than 0.001), but slightly better results were achieved by this latter method in ongoing pregnancy per puncture rate (18% vs. 8%; NS). With ultrasonically guided punctures, stimulation by clomiphene/hMG allowed better oocyte recoveries (3.8 +/- 2.5 vs. 2.3 +/- 1.9, p less than 0.05). Such results constitute an argument for preferential use of the clomiphene/hMG stimulation protocol with ultrasonically guided punctures.