Quality evaluation of newborn screening programs.

In the last four decades in many countries and regions all over the world newborn screening programs have been developed. Traditionally, most programs focus on phenylketonuria and congenital hypothyroidism. However, with development of new technologies, screening for a large variety of other disorders has become available.

99Tc(m)-MIBI scanning of the thyroid gland in patients with markedly decreased pertechnetate uptake.

Diffusely reduced 99Tc(m)-pertechnetate uptake is a relatively infrequent but annoying finding that impairs evaluation of the thyroid gland. We studied 32 female patients aged 19-85 years with markedly reduced pertechnetate uptake. The following causes of reduced pertechnetate uptake were recognized: treatment with iodinated pharmaceuticals (n = 15), suppression therapy with T4 (n = 11), subacute thyroiditis (n = 5) and massive tumour replacement (n = 1).

Can we use 99mTc-MIBI in functional studies of the parathyroid gland?

The usefulness of technetium-99m-sestamibi (99mTc-MIBI) in patients with secondary hyperparathyroidism on haemodialysis was assessed. We studied 33 patients with parathyroid scintigraphy with i.v.

Are there any differences in the parathyroid response in the different types of renal osteodystrophy?

With the purpose of studying the curve of parathyroid response to variations of serum calcium during dialysis, we studied 20 patients on haemodialysis: 10 women and 10 men, with different forms of bone disease diagnosed by bone biopsy (adynamic bone disease, mild hyperparathyroidism, severe hyperparathyroidism). In all patients, we performed parathyroid stimulation by 4 h dialysis with 1 mEq/l of Ca2+ in the dialysate, and an inhibition test in another dialysis session with 4 mEq/l of Ca2+, with a 48 h interval. Ca2+ and intact parathyroid hormone (iPTH) were measured prior to dialysis and every hour subsequently, to obtain a Ca2+-iPTH for each patient.