Sporadic and hereditary primary hyperparathyroidism.

Primary hyperparathyroidism (PHPT) is a common endocrine disorder, particularly frequent in post-menopausal women. It is characterized by hypercalcemia with inappropriately high spontaneous plasma PTH. Singlegland adenoma is the most common cause (75- 85%). PHPT is usually a sporadic disease but in approximately <5% of cases, a familial hyperparathyroid syndrome is diagnosed. Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including: multiple endocrine neoplasia (MEN) type 1, MEN type 2A, MEN4, benign familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, hyperparathyroidism-jaw tumor syndrome, and familial isolated hyperparathyroidism. These syndromes show mendelian inheritance patterns and the main genes for most of them have been defined. The classic form of PHPT, which presents with hypercalcemia, kidney stones, and bone disease, is no longer common. Currently, there is an increasing interest in the subtle manifestations of PHPT, particularly the cardiovascular and neuropsychiatric manifestations. Parathyroidectomy is the definitive cure for PHPT even though patients with the asymptomatic form of the disease can be followed conservatively.

Familial glioblastoma.

The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q-/46, XX, -2, 4p-, 7p-, +15/46, XX. Some aspects about genetics of glial neoplasms are discussed.

[Infantile metachromatic leukodystrophy in twins]. / Leucodistrofia metacromática infantil em gêmeos.

The authors report two cases of infantile metachromatic leucodystrophy in monozygotic female twins, born from a second cousin marriage (f = 1/32). The zygosity was determined by means of obstetrics and genetics marker findings.

Self-injection of diazepam in naive rats: effects of dose, schedule and blockade of different receptors.

The present series of experiments had two main objectives: The first was to determine the conditions under which self-injection of the benzodiazepine diazepam would be optimal; the second was to identify neurochemical substrates which underlie the maintenance of diazepam self-administration. Data from the first experiment indicated that rats maintained on an FI-1 (Fixed Interval of 1 min) schedule of food delivery self-injected significantly more diazepam than rats not maintained on this schedule. Results from the second experiment demonstrated that the benzodiazepine antagonist Ro 15-1788, and the GABA antagonist bicuculline, significantly reduced diazepam self-administration, but the opiate antagonist naloxone was without effect. Data from the third experiment showed that the dopamine antagonist haloperidol also significantly reduced the rate of diazepam self-injection. Thus, these findings indicate that the acquisition of diazepam self-injection occurs under an FI-1 schedule of food delivery, which has been shown to be middly stressful, while its maintenance depends upon the functional integrity of benzodiazepine and GABA receptors and upon the activity of dopaminergic pathways.

Doenca de Kyrle. Estudo genetico de uma familia. / Kyrle's disease. A genetic study in a family

A doenca de Kyrle e uma afeccao rara devida a um disturbio da queratinizacao.Os autores apresentam um relato de dois casos com lesoes cujos aspectos clinicos e histopatologicos sao tipicos da doenca de Kyrle. Sao abordados alguns topicos clinicos, histopatologicos e geneticos da enfermidade e feita a revisao de literatura a partir de 1955

The suppression of ethanol self injection by buprenorphine.

The schedule induced self-injection procedure was used to establish ethanol self-injection in 16 rats. Pretreatment with an injection of 0.3 mg/kg buprenorphine significantly reduced ethanol self-injection in a group of 8 rats. This effect was not found in a second group of 8 rats which received saline pretreatment. The findings provide support for an involvement of buprenorphine, in ethanol self-injection, which cannot be explained in terms of opiate induced shifts in taste preference. From the present data it cannot be determined whether the agonist or antagonist opiate properties of buprenorphine cause the blocking effect.

Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects.

We report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in Brazil in persons of Portuguese ancestry. The patient's parent were first cousins; she had two younger affected sisters. She presented with signs of vascular insufficiency of the lower stumps, which after amputation were found to lack large vessels below the knee.

Hemihypotrophy in a girl with a translocation t(13q;7p).

A 10 year old girl with a mental age of 7-8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.