Outcome in three siblings with antibody-mediated transient congenital hypothyroidism.

A woman receiving thyroxine substitution therapy for acquired hypothyroidism caused by autoimmune thyroiditis gave birth to three babies who had transient primary hypothyroidism. All three babies had elevated thyrotropin levels on neonatal screening, but one had normal thyroxine values. Thyrotropin receptor-blocking antibodies were present in maternal serum and in the three neonates. Each baby also had a different congenital malformation. The neurodevelopmental outcome of the children appeared related in part to maternal thyroxine levels, which suggests that transplacental transfer of thyroxine may protect the fetal brain.

Hyperprolactinemia and temporal lobe epilepsy in a woman: concomitant and persistent prolactin suppression and temporal lobe epilepsy relief.

It has been reported that hyperprolactinemia may be associated with increased temporal lobe activity. Coexisting hyperprolactinemia (97.5 +/- 3.2 ng/ml) related to a pituitary tumefaction (8 mm) and Temporal Lobe Epilepsy (TLE), were observed in a 37-year-old woman. Carbamazepin (CBZ) therapy induced a marked improvement in TLE symptoms and EEG recordings, but did not influence hyperprolactinemia and related symptoms. Long-lasting (27 months) normoprolactinemia (19.4 +/- 0.6 ng/ml) and TLE relief were achieved on a dopamine (DA) agonist medication, e.g. pergolide mesylate, 25-50 micrograms/day given over 8 months, and persisted as long as 27 months after drug withdrawal. Posttreatment CT scans showed progressive shrinkage of the pituitary tumor (2 mm) associated with an empty-sella. It is proposed that, whenever TLE and hyperprolactinemia coexist, therapy with a DA agonist such as pergolide mesylate, resulting in normoprolactinemia, may be beneficial in TLE control.

Myotonic dystrophy of Steinert: are anxiety and depression necessarily concomitants?

Anxio-depressive symptomatology was not found in a small group of thirteen myotonic dystrophy ("Steinert's disease") patients. This contradicts previously published reports which document a moderately severe affective disorder in this disease as well as showing a beneficial clinical response to "imipramine" and "lithium carbonate". Methodologic and interpretative difference may explain the discordance between the studies.

Normal urate transport into erythrocytes in familial renal hypouricemia and in the Dalmatian dog.

It has been hypothesized that humans with familial renal hypouricemia may have a generalized defect of urate transport across cell membranes due to the genetic deletion of a specific carrier, a defect similar to that reported in the Dalmatian dog. In this study the transport of urate labelled with carbon 14 by the erythrocytes of four patients with familial renal hypouricemia was identical to that of five healthy controls. The addition of hypoxanthine to the incubation medium inhibited the transport to a similar extent in the two groups of patients, demonstrating the presence of a carrier specific for urate. This carrier was also found to be present in the erythrocytes of Dalmatian and mongrel dogs. Thus, the renal anomaly causing the hypouricemia in both species is not related to a generalized deletion of a urate-transporting protein on cell membranes.

Interaction of two lipid disorders in a large French-Canadian kindred.

This study investigates the pedigree of 508 individuals over five generations identified by an individual with hypertriglyceridemia, familial hypercholesterolemia, and a IIb lipoprotein electrophoretic phenotype. The sample of 378 living individuals studied extensively for risk factors and disease status was distributed among maternal (170) and paternal (176) relatives and the codescendants (32) of the index case. It was found that the distributions of the plasma lipid and lipoprotein abnormalities in the different subsets of the kindred were consistent with the presence of two separate hereditary lipid disorders: familial hypercholesterolemia on the paternal side and familial hyperprebetalipoproteinemia on the maternal side. This combination of disorders with a possible contribution from factors influencing glucose metabolism was associated with high frequency of hypercholesterolemia and its clinical manifestations and of cardiovascular morbidity among the codescendants. An interaction effect is suggested as an explanation for the unusually high prevalence of hyperlipidemia among the codescendants and for the presence of a IIb phenotype in the index case.

Effect of acute and chronic administration of calcitonin on serum glucose in patients with Paget's disease of bone.

The effects of an acute injection of synthetic salmon calcitonin (sCT) and human CT (hCT) and of long term (4-month) administration of sCT on serum glucose levels were investigated in eight patients with Paget's disease of bone. The results obtained demonstrate a small but statistically significant rise in serum glucose after a single sc injection of synthetic hCT. However, the serum glucose level was not increased after 4 months of daily administration of synthetic sCT to our pagetic patients. Our results also substantiate the clinical observation that long term administration of CT does not cause clinical diabetes or significantly change fasting blood glucose concentration. Our results are also consistent with the view that the effect of CT administration on glucose metabolism is related to the secondary hypocalcemia.

Effect of acute administration of salmon and human calcitonin on blood urate and renal excretion of uric acid in patients with Paget's disease of bone.

The sc injection of salmon calcitonin (CT) (100 MRC U) or human CT (50 MRC U) to Pagetic patients reduces the plasma urate concentration and increases the renal excretion of uric acid. This effect is independent of the natriuretic, phosphaturic, or glycosuric actions of CT and is not due to the transient increment of the glomerular filtration rate noted after CT administration. Our results suggest that the hypouricemia observed during CT treatment is related, at least in part to a direct action on the renal handling of uric acid.

Plasma lipids and lipoprotein patterns in angiographically graded atherosclerosis of the legs and in coronary heart disease.

The prevalence and type of plasma lipoprotein abnormalities were determined in 114 French-Canadian patients with angiographically proven peripheral vascular disease (PVD). The severity of atherosclerosis was positively correlated with plasma triglyceride concentration, especially in the younger patients (r = 0.29, P less than 0.05), and (not significantly) with plasma cholesterol concentration. Of the risk factors believed to predispose individuals to atherosclerosis, cigarette smoking was the most frequently found in the PVD patients (72.8%), especially among the men. Combination of two or more risk factors was the rule. Findings were compared with those in 114 patients who had undergone coronary angiography for suspected coronary heart disease (CHD). The CHD patients were, on average, younger by 10 years. Hyperlipidemia was present in 58.8% of CHD patients, compared with 43.9% of PVD patients. A far higher proportion of CHD patients showed the type II plasma lipoprotein pattern (24.6% v. 7.9%), although the type IV pattern was more common in both groups (31.6% and 28.9%, respectively). A high proportion of all patients (56.1% with PVD and 41.2% with CHD) showed a normal lipoprotein pattern on paper electrophoresis.

Effect of 6-hydroxydopamine on diet-induced hyperlipidemia and atherosclerosis in the rat.

The effect of 6-hydroxydopamine (6-OH-dopamine) and of a cholesterol rich diet on the plasma and aortic cholesterol of female rats were studied. Both the diet and the 6-OH-dopamine produced an important increase in plasmatic and aortic cholesterol. A synergistic effect of these two treatments was observed on the plasma but not on the aortic cholesterol. The mechanism by which 6-OH-dopamine produces hypercholesterolemia and a increase in aortic cholesterol remains to be explained.

Halofenate versus clofibrate in the management of true diabetes insipidus.

The antidiuretic effect of two chemically related drugs, clofibrate and halofenate, was tested in a patient with pitressin-sensitive diabetes insipidus. The conventional daily dosage of 2 g clofibrate failed to control the symptoms of this patient; in order to obtain an adequate response the dosage had to be increased to 4 g daily.Halofenate at a dosage of 2 g daily, an amount equivalent in hypolipidemic activity to 4 g per day of clofibrate, significantly reduced water intake and output, while urinary osmolarity was markedly increased.It is concluded that (1) the antidiuretic effect of clofibrate may be dose-related, and that (2) halofenate also possesses some antidiuretic activity.