Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.

Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation.

Cooperation between general practitioners and diabetologists and clinical audit improve the management of type 2 diabetic patients.

A programme was set up in the Essonne (France) between 1994 and 1998 to improve the quality of care for Type 2 diabetic patients. A consensus panel of general practitioners and diabetes specialists established guidelines based on the French St. Vincent recommendations. An audit involving 73 volunteer general practitioners (out of 965 in the Essonne) then evaluated compliance with these guidelines. Care and outcome were assessed in 505 (1995) and 604 (1996) Type 2 diabetic patients. The first audit cycle showed that defined standards were not met for several criteria and also revealed a lack of standardisation of HbA1c measurements and delayed intervention when blood glucose control was inadequate. Corrective measures were adopted: cooperative protocols for foot care, prevention of nephropathy and retinopathy, standardisation of HbA1c, and an educational programme at the primary health care level. The second audit cycle showed improvement in foot care (+33.6%), quality (+39.9%), prescription of HbA1c (+11.9%), and control of blood pressure (+11.9%) and blood lipids (+12.8%). The proportion of early interventions in case of inadequate glucose control increased significantly (+10.5%). However, some gaps persisted, mainly regarding screening for complications, diet counselling and patient education. This study shows that cooperation between general practitioners and diabetes specialists is feasible and effective in the context of a district-wide approach, and that it facilitates the adoption of international guidelines by local physicians. A project has been developed to provide structured diabetes care in general practice and better access to specialist services in order to improve the outcome of Type 2 diabetic patients.

Results of long-term continuous subcutaneous octreotide administration in 14 patients with medullary thyroid carcinoma.

OBJECTIVE: Treatment by octreotide has been suggested in medullary thyroid carcinoma patients with post-surgery metastases. The purpose of this study was to evaluate if the tumoral regression could be improved by a high dose and by prolonged octreotide treatment. DESIGN: Fourteen thyroidectomized patients were studied. All patients had persistently elevated plasma calcitonin levels with normal or elevated carcino-embryonic antigen levels. Five hundred micrograms/day of octreotide were administered by continuous subcutaneous infusion for 90 days. MEASUREMENTS: Plasma calcitonin and carcino-embryonic antigen levels were determined at days -30, -20, -2, -1, 0, +30, +60, +90, +120; morphological extension was evaluated every month. RESULTS: Continuous infusion of octreotide did not induce any significant decrease of calcitonin levels, or any morphological improvement, and had no major undesirable effect. However, in 4/14 patients calcitonin levels fell during treatment (-43, -50, -15, -20%), and in 9 patients calcitonin increased (+22 to +130%) after cessation of therapy. CONCLUSION: Biological or morphological parameters of medullary thyroid carcinoma are not significantly improved in a large series of patients treated by octreotide.

Changes of prolactin response to dopamine during the rat estrous cycle.

The effects of dopamine (DA) on prolactin (PRL) secretion in anterior pituitary tissue from rats selected during various stages of the estrous cycle were analyzed under in vitro conditions. The results were examined in relation to plasma PRL, estradiol and progesterone levels. During the estrous cycle there was a marked variation in the responsiveness of the lactotrophs to the inhibitory action of DA. Rapid changes occurred during proestrus: pituitary lactotrophs were not sensitive to the inhibitory action of 10 nM DA at 15.00 and 17.00 h and were less sensitive to 1 microM DA compared to 09.00 h (p less than 0.01), 12.00 h (p less than 0.05) and 19.00 h (p less than 0.05). This lowest PRL response to DA was associated with the preovulatory PRL surge. The recovery of a higher PRL response at 19.00 h coincided with the decrease of plasma PRL levels. During the remainder of the cycle, plasma PRL levels remained low in estrus, diestrus 1 and diestrus 2. Lactotrophs were sensitive to 1 microM and 10 nM DA during estrus and diestrus 2 but a significant lower PRL response to 1 microM DA (p less than 0.05) and no PRL response to 10 nM DA was observed in diestrus 1. These data show that alterations in the sensitivity of the lactotrophs' responsiveness to DA occur in the anterior pituitary gland during the rat estrous cycle and can lead to the removal of DA inhibition in the presence of physiological DA concentrations. This phenomenon is consistent with the fact that DA could be involved in the preovulatory PRL surge during the estrous cycle.