Sleep and Memory Disorders in a Patient Suffering from Charcot-Marie-Tooth Disease.

Currently incurable, Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder, which affects a small percentage of the population. The most common cause of CMT is the duplication of a region on the short arm of chromosome 17, which includes the gene PMP22. We report a thirty-seven-year-old man with CMT disease having sleep, memory and attention disorders characterized by brief retrograde amnesia at early age. The patient has no genetic disease in the family, but was diagnosed with diabetes mellitus, which emphasizes the sensory loss and prolonged infections. Diabetes mellitus emphasizes the sensory symptomatology and predisposes to the development of infections with delayed healing.

Parathormone and calcitonin secretion in endemic goiter.

The investigations performed on 160 females of adult age with goiter and clinical signs of spasmophilia followed up the serum and urinary calcium and magnesium. The calcitonin and parathormone circulating levels were also determined. Although the levels of serum and urinary calcium and magnesium appear normal in adult subjects with simple goiter, decreased levels of the circulating parathormone were confirmed in most cases. The values of circulating calcitonin were within normal limits. The moderate hypoparathyroidism noted is an indication of the possible association of "parathyroid dystrophy" with endemic goiter.

Late hypothyroidism following subacute thyroiditis.

The authors followed up the incidence of permanent hypothyroidism in 35 patients with subacute thyroiditis (SAT) in their past history. The investigations were made one to four years after the acute episode. Ten of these presented repeated recurrences despite the therapy with glucocorticoids. The investigations included serum determination by RIA of T4, T3, TSH and thyroglobulin as well as of circulating thyroid antibodies. Permanent hypothyroidism subsequent to SAT occurred in two patients. In one of them it occurred following thyroid surgery performed for repeated recurrences. Both patients presented high levels of circulating thyroglobulin antibodies suggesting a possible transition to autoimmune thyroiditis. In the authors' opinion permanent hypothyroidism is likely to develop after SAT only in association with an autoimmune process or after thyroid surgery.

Calcitonin secretion in thyroid insufficiency.

The level of circulating calcitonin was followed up in 30 patients with severe hypothyroidism, diagnosed clinically and by laboratory examinations. Four of the patients under study had goiter. The complex investigation of phosphorus-calcium metabolism, including radioimmunoassay of calcitonin was made under basal conditions and after calcium loading. The results revealed low basal urinary calcium excretion and an increased skeletal uptake of calcium after loading. Calcitonin secretion persisted in 8 of the patients under basal conditions and it increased after calcium loading in another 14 of them, accounting for the increased "skeletal avidity" for calcium. The persistence of calcitonin secretion supports an earlier clinical observation concerning the relative integrity of the skeleton in patients with hypothyroidism. In the hypothyroid patients with goiter the results do not differ from those obtained in the remaining patients.

Calcitonin secretion in hyperthyroidism.

The level of circulatory calcitonin was determined by the RIA method in 45 hyperthyroid patients in evolution, before and after calcium stimulation or after pentagastrin injection. The basal calcitonin secretion was increased in only 7 of the 45 patients studied, exceeding 500 pg/ml. After a slow calcium loading the mean of calcitonin increased, but with variable individual values. The rapid calcium loading was not followed by significant increases after 30 minutes. After pentagastrin a secretory peak of over 1,800 pg/ml was obtained in 4/5 cases. Results point out the state of the calcitonin-secreting system in hyperthyroidism and its possible role in the skeleton protection in these patients.

Reactivity to calcitonin after ovariectomy.

The hypocalcemic response to calcitonin injected in female rats disappeared after their castration. The substitution treatment with estrogens does no allow reestablishment of the hypocalcemic effect obtained in intact animals, a fact that lays stress on the role of the whole ovarian secretion in maintaining a normal response to calcitonin. The response of castrated animals to calcitonin calls attention to the conditional role of estrogens in validating the osteoprotecting effect of calcitonin.

Skeletal calcium retention in hyperthyroidism and in vitro calcitonin inactivation.

Studies on patients with severe hyperthyroidism revealed an increased skeletal avidity for calcium, expressed in terms of net retention, after a three-hour i.v. load of 10mg Ca/kg body weight. For the same hyperthyroid subjects the calcitonin inactivating potency of the sera was tested in vitro. The results were expressed as restant hypocalcemic potency of the calcitonin after incubation with the serum fractions. In hyperthyroid subjects two fractions in dilutions of 1:10 reduced the hypocalcemic activity of calcitonin by 75%. In normals this activity appeared only in one fraction. All these results suggest a prompt calcitonin release during calcium infusion which is however less efficient, probably because of the increased amount of calcitonin inactivating factor present in sera. The serum inactivating factor generally contributes to the short-time activity of calcitonin both in normals and in some clinical states with bone calcium imbalance.

Thyroparathyroid conditioning of hydrocortisone and glucagon-induced hypocalcemic effect in rats.

A single dose of 2.5 mg hydrocortisone induced hypocalcemia in both intact and parathyroidectomized rats. This effect disappeared in the thyroparathyroidectomized group and did not reappear after the substitution with parathormone. A single dose of 0.2 mg glucagon produced a significant hypocalcemic effect in intact, but not in parathyroidectomized rats. In the latter group, however, the hypocalcemic effect of glucagon reappeared after the administration of parathormone. It was concluded that the hypocalcemic effect of hydrocortisone may be conditioned by the presence of calcitonin secreting thyroid and that of glucagon - by the presence of parathyroids.