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Biomedical subjects

A González-Angulo

Publications and source records attributed to A González-Angulo.

At least 19 recordsLinked to original sources

A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance.

Two brothers and their sister aged 8, 13, and 7 years were found to have unusual facies (gross, rough and abundant hair, wide forehead, mild palpebral ptosis, small nose, anteverted nostrils, thick lips, and down-slanting corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, feet deformities, and limb and gait ataxia. The characteristic clinical picture in the three sibs, once compared with other ataxic syndromes, allowed one to conclude that this could correspond to a distinct entity probably inherited as an autosomal recessive disorder.

Abnormalities, Multiple

Functioning microvillous adenoma of the parathyroid gland containing nuclear pores and annulate lamellae.

The cytoplasmic membranes of chief cells in parathyroid adenomas from patients with primary hyperparathyroidism associated with either severe or mild hypercalcemia were examined in an attempt to correlate ultrastructural changes and biochemical findings. In the case involving the highest serum calcium level (17.5 mg/dl), the cytoplasmic membrane exhibited numerous long cytoplasmic processes (microvilli) that extended into wide intercellular spaces. In this respect this tumor, associated with severe hypercalcemia, was different from previously described parathyroid adenomas and from the adenomas of the present study that were associated with mild hypercalcemia (12.4 +/- 0.5 mg/dl); the active chief cells of the latter were characterized by a relatively straight plasmalemma with interdigitations and narrow intercellular spaces. Also of interest in the case involving severe hypercalcemia was the presence of numerous nuclear pores and annulate lamellae as well as an inconspicuous Golgi apparatus. These ultrastructural features would seem to indicate the existence of further morphologic parameters for the evaluation of chief cell activity.

Adenoma

Bromocriptine therapy as pre-operative adjunct of non-functional pituitary macroadenomas.

Although bromocriptine administration produces reduction in size of prolactinomas, its effect upon non-functional pituitary adenomas is still uncertain. Nine patients with macroadenomas, 2 of them with prolactinomas and 7 with non-functional tumours, received bromocriptine prior to transsphenoidal surgery. Size reduction of tumour mass was assessed by computerized tomography and by visual field examination before and following bromocriptine treatment. There were no signs of size diminution or pathological changes in the non-functional adenomas treated pharmacologically during 15 to 360 days. Both patients with prolactinomas had radiological evidence of size reduction and morphological changes on microscopic examination. These 2 patients had tumours with prolactin granules (immunocytochemistry) and adenoma cells showed reduced cytoplasmatic, nuclear and nucleolar areas. Neither vascular damage, cell necrosis, nor infarction was observed by electron microscopy. Patients with non-functional tumours as determined by immunocytochemistry and hormone production did not benefit from bromocriptine. The suggestion that bromocriptine can be used as primary treatment for non-functional pituitary tumours is not supported by the present study. Conversely, in cases of macroprolactinoma, bromocriptine is a useful pre-operative adjunct when surgery is planned and for those patients in whom a surgical cure is considered difficult owing to the tumour size.

Adenoma

Ultrastructural changes in the endometrium of rabbit induced by spermatozoa.

Experiments were undertaken to investigate whether ultrastructural changes could be visualized in the endometrial epithelial linings brought about by the presence of spermatozoa. Female rabbits were inseminated with intact spermatozoa in one uterine horn, and the other horn was injected with inactive (dead) spermatozoa, which served as the control. Ruthenium red was used to enhance contrast of glycoproteins of epithelial plasma membranes. There was a decrease in the number and height of microvilli of epithelial cells in those horns injected with intact spermatozoa along with a decrease of ruthenium red deposits. In contrast, microvilli were numerous in those horns injected with inactive spermatozoa, and ruthenium red deposits also were numerous. This marker was not seen between neighboring epithelial cells in any of the injected horns. Control virgin animals, however, disclosed ruthenium red deposits in luminal plasma membranes and along the junctional complexes of epithelial cells. Intact spermatozoa could modify the synthesis or turnover of glycoproteins of outer coats owing to a possible cell-to-cell interaction between spermatozoa and endometrium. The lack of ruthenium red deposits in junctional complexes in the injected animals and their presence in the virgin control rabbits suggest the opening of communicating channels in the two former groups due possibly to the PMSG priming not present in the virgin control animals.

Animals

Inhibition of implantation by the intrauterine administration of phospholipases in the rat.

Phospholipases A2 and C (93 and 500 mU) were administered to uterine horns of Long-Evans adult rats during the first five days of pregnancy. As control material, saline (0.15 M) was administered to contralateral uterine horns. The animals were sacrificed on the ninth day of pregnancy, the uterine horns were removed and the number of implanted embryos were counted. Both horns were examined with light and electron microscopes. For electron microscopy, Ruthenium red was used to visualize possible changes of the outer coat (glycocalix) of the plasma membrane of endometrial epithelial cells. Implantation was inhibited when phospholipases A2 and C were administered during the first three days of pregnancy. Ultrastructural modifications included decrease of glycoproteins as demonstrated by diminution of the Ruthenium red staining that may indicate a decrease in the negative surface charges of endometrial surface epithelium.

Animals

[Human identity].

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Biological Evolution

Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

A girl aged 13 years and 9 months with a phenotypic appearance of 9p trisomy was studied. Chromosome analysis of peripheral blood lymphocytes revealed a 9p tetrasomy [47,XX,+i(9p)] with no evidence of mosaicism. Biochemical studies corroborate the gene dosage effect for galactose-1-phosphate uridyltransferase. The roentgenological findings were quite similar to those of the 9p trisomy except for hypoplastic and angulated ribs, and malformed vertebral bodies, which are probably exclusive of the tetrasomic state.

Adolescent

Effects of a progesterone-releasing intrauterine contraceptive device on endometrial blood vessels: a morphometric study.

The concentration of microscopically detectable blood vessels was significantly lower in endometrium exposed to progesterone-releasing intrauterine contraceptive devices (IUDs) than in control endometrium (mean vessel density 2.39 and 3.92, respectively). The percentage of vessels with defects was significantly higher in IUD samples (35.0%) than in control samples (13.4%). There was no significant difference in hemostatic response to vessel injury between the IUD and control samples. Although they were more defective than in controls, the blood vessels of progesterone IUD-exposed endometrium were far fewer in number, which may account for significantly less uterine blood loss in the users of these devices. In addition, the progesterone IUDs do not appear to inhibit hemostasis in the endometrium so that blood loss from injured vessels may be minimized.

Endometrium

Hemostatic defects in the Bernard-Soulier syndrome. Presentation of one case and literature review.

Bernard-Soulier's syndrome (BSS) is a familial hemorrhagic disease that is not very common, but its hemostatic defects have not been explained satisfactorily. In this paper the authors comments on the lack of Ib and Is glycoproteins in the platelet membrane, which is the basic characteristic of platelets with BSS. These proteins contain large amounts of sialic acid and have been identified as the absent membrane marker in said patients. The role played by these alterations in the BSS platelets leads us to suppose that there are no other structural and functional defects in such platelets, other than those related to the absence of membrane marker mentioned. From the above, a discussion follows on the similarity of BSS with von Willebrand's disease and it is concluded that the BSS is due to a scarce molecular concentration of Ib and Is glycoproteins in the platelet membrane and not to a functional defect of such molecules. The case described in this paper is the first one to be published in this country and was studied using the most useful and recommendable tests known at present, to this end.

Adult

Frequency of evident Barr and "F" corpuscles in tetraploid Purkinje neurons.

A study was carried out with the purpose of establishing the frequency of female sex chromatin (Barr corpuscle) and male sex chromatin or ("F") fluorescent corpuscles in the Purkinje cerebellar neurones, that are tetraploid cells. Two Barr corpuscles were observed in 18 per cent of Purkinje cells in hematoxylin-eosin stained histological sections in five females and none in a similar number of male sex individuals. In the cerebellar smears stained according to Klinger's method, Barr corpuscles were observed in Purkinje cells in 30 per cent of females different to what was observed in male sex individuals. Smears stained with quinacrine dihydrochloride showed two "F" corpuscles in Purkinje cells of male individuals and only one fluorescent corpuscle in a lower percentage of glial cells and of the granule cell layer in this same material. "F" corpuscles were not observed in females. This study shows that in tetraploidy, as the case of Purkinje neurones, an X gonosome is expressed for each set of chromosomes in female individuals and an "F" corpuscle, corresponding to the Y gonosome of each chromosomic set is found in male sex individuals.

Animals

Neuropathic type of Gaucher's disease in a Mexican boy. Electron microscopy studies and considerations on the current concept of this disease.

Case report of a 32 month old boy with Gaucher's disease. He had an evolution of 22 months with neurological symptoms. The spleen was removed and was studied with light and electron microscopy. The study disclosed the typical morphological features of Gaucher's cells. A correlation was established between symptomatology, radiological findings and anatomic alterations in post mortem studies. An interesting fact is the absence of the disease in other family members and therefore this case may represent an example of a recent mutation. General considerations on the current concept of this disease are also discussed.

Bone Marrow