Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy

We report on a family with a sibship of three children for whom the diagnosis of an unusual form of metachromatic leukodystrophy (MLD) had been suggested earlier. The patients had choreiform movements and dystomic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASA_p/ASA_p). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.     

Cholecystokinin and satiety in rats and rhesus monkeys.

When ingested food does not accumulate in the stomach or enter the small intestine, rats do not stop eating. Small amounts of food placed in the small intestine or intraperitoneal injections of the intestinal hormone cholecystokinin (CCK) elicit the full behavioral display of satiety in these sham-feeding rats. In rhesus monkeys, intravenous infusions of CCK produce large, dose-related reductions in meal size. In addition, gastric preloads of calorically trivial amounts of l-phenylalanine, but not d-phenylalanine, produce large reductions in meal size, suggesting that: 1) endogenous CCK acts as a "satiety signal," and 2) certain foods may be very efficient releasers of such a satiety signal. Whether the satiety effect of CCK is physiological in rats and monkeys or operates in humans has not been determined.     

Uroepithelium in a colonic diverticulum

Giant colonic diverticula are rare entities and often present in adulthood as acute diverticulitis. The authors present a case of giant colonic pseudodiverticulum lined with uroepithelium causing bowel obstruction in a neonate. The presence of uroepithelium in a colonic pseudodiverticuium remains unexplained and to the authors' knowledge unreported. This heterotopic tissue may be a result of an embryonic rest or could be urachal in origin adhering initially to the colon and eventually detaching from the umbilicus. These lesions should be resected because of the risk of infection, perforation, or obstruction.     

Radiologically placed temporary hepatic artery catheter for treatment of liver cancer

Hepatic artery infusion (HAI) chemotherapy is associated with higher response rates compared to systemic chemotherapy in those patients with unresectable liver malignancies. Operative hepatic artery catheter (HAC) insertion has significant morbidity and mortality, especially in patients with high‐volume disease, some of whom may not respond to HAI chemotherapy. We report our experience in 45 patients with high‐volume liver disease who were initially treated with HAI chemotherapy via a radiologically placed temporary HAC to try to select the responders who then went on to have an operative HAC. In these 45 patients who had 62 radiologically placed HAC, we found very few major complications, and certainly no complications such as cholecystitis, vascular or malperfusion problems.     

Microbiology of the female genital tract

Patients who contract genital tract infections are predominantly young, are otherwise healthy, and generally respond well to treatment for bacterial infections. These infections are most commonly polymicrobial in etiology, with several noteworthy exceptions. Often there is an inciting event such as childbirth, surgical intervention, pregnancy termination or intrauterine contraceptive device insertion. With treatment, prognosis for cure is excellent; however, sequelae such as recurrent infections, infertility, or ectopic pregnancy can be serious. Bacteria encountered in the female genital tract can be divided into aerobic and anaerobic organisms. Among the aerobic gram-positive organisms, several varieties of streptococci such as Group B streptococci and enterococci occur frequently. Staphylococcus aureus is an infrequent but important pathogen. Among the aerobic gram-negative organisms, the most common is Escherichia coli. Klebsiella sp. and Proteus sp. occur in about 5% of genital tract infections. Species that are more resistant to antibiotics, such as Pseudomonas aeruginosa and Enterobacter sp., occur in approximately 1% or 2% of these cases and are more likely to appear in patients who have previously received antibiotic therapy or who have been hospitalized for some time. Among the anaerobic organisms, the most common gram-positive isolates are Peptostreptococci and Peptococci. Clostridia sp. occurs less frequently. Among the anaerobic gram-negative organisms, the Bacteroides sp. most frequently encountered are Bacteroides bivius and Bacteroides disiens. Bacteroides fragilis is still a common problem but appears to be less predominant. Other organisms encountered are Chlamydia trachomatis, the genital mycoplasmas, yeasts, protozoa, and viruses.