Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.     

Reactivity and Specificity of Trichinella spiralis Fractions in Cutaneous and Serological Tests

Six diethylaminoethyl-cellulose fractions of a larval Trichinella spiralis extract, an Ascaris suum extract, and a nonrelated protein were used for cutaneous tests in guinea pigs with 8-, 14-, and 73-day-old T. spiralis infections, in guinea pigs with 13-day-old A. suum infections, and in normal guinea pigs. A selected T. spiralis fraction was used in hemagglutination (HA) tests with sera of 8 T. spiralis-infected rabbits, 41 sera of trichinellosis patients positive by bentonite agglutination tests, and 50 sera of clinically healthy persons. Immediate-type cutaneous reactions revealed extensive cross-reactivity between both parasites, although the establishment of conventional limits for considering a reaction positive allowed the specific diagnosis of acute or chronic trichinellosis with different fractions. Delayed-type reactions were specific with all fractions except one, and different fractions reacted during either the acute or the chronic phase of trichinellosis. HA detected anti-Trichinella antibodies in all the rabbits 9 to 10 days postinfection, in all trichinellosis patients, and in none of the healthy people. Correlation between HA and bentonite agglutination titers and other considerations suggest that HA with the selected fraction detects early antibodies. HA inhibition tests with A. suum extract suggest lack of HA cross-reactivity between the A. suum- and T. spiralis-selected fractions. The use of different fractions in diverse tests for clinical or epidemiological studies is suggested.     

Mechanism of 201Tl uptake in tumours

We have studied the mechanism of tumour uptake of ²⁰¹Tl by in vivo and in vitro studies. In a series of patients with breast cancer (n=26), lung cancer (n=56) and lymphoma (n=15), the time course of tumour uptake of ²⁰¹Tl paralleled that in the myocardium with almost identical times of peak uptake being obtained in tumours and myocardium. In a patient with hepatic metastases from colonic cancer undergoing laparotomy, ^99mTc labelled microspheres and ²⁰¹Tl were injected into the hepatic artery and biopsies of metastatic and normal liver tissue obtained. The tumour to normal liver activity ratios for ²⁰¹Tl were one tenth of those for ^99mTc microspheres. In the final part of the study, cells from a lung cancer tissue culture line were incubated for 30 min with ²⁰¹Tl with and without the addition of cardiac glycoside, which acts a sodium potassium pump blocker. The cells exposed to the cardiac glycoside showed markedly decreased uptake of ²⁰¹Tl compared to the cells not so exposed (0.6%±0.1% vs 11.8±0.7.2% of the administered dose). The mechanism of ²⁰¹Tl uptake of tumours is similar to that in the myocardium. Sodium potassium pump activity appears to be more important than tumour blood flow. ²⁰¹Tl uptake may provide a useful means of studying tumour viability.