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Biomedical subjects

R Silva

Publications and source records attributed to R Silva.

At least 127 records · Page 7Linked to original sources
PubMed1978

Partial trisomy-5p.

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

Abnormalities, Multiple↗
PubMed1977

X/XYq - mosaicism and mixed gonadal dysgenesis.

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.

Child, Preschool↗
PubMed1976

Trisomy iop.

A stillborn male fetus having a trisomy of the short arm of chromosome No 10 is described. The father is a carrier of the reciprocal translocation 46XY,t(10;21) (10pter leads to 10p11::21p11 leads to 21qter). The clinical picture included growth retardation, bilateral cleft lip and palate, micrognathia, short neck, microphalus and bilateral clubbed feet. The long bones were markedly thinned with spontaneous fractures. Autopsy findings included pulmonary hypoplasia and renal dysplasia. Previous reports of trisomy 10 and trisomy of the short arm of chromosome 10 are discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

A behavioral diagnostic paradigm for integrating behavior-analytic and psychopharmacological interventions for people with a dual diagnosis.

Aberrant behaviors exhibited by people with developmental disabilities have been well documented. Often, psychotropic medications, especially neuroleptics, have been used to control behaviors such as self-injury, physical aggression, property destruction, and hyperactivity. Serious side effects of these medications have occurred, resulting in litigation and regulation of their use by courts, surveyors, and accrediting bodies. Rules and regulations have been developed requiring that behaviors/symptoms necessitating that medication usage be clearly delineated, that behavior programs be developed and implemented to reduce need, and that the interdisciplinary team approach be used to monitor effectiveness of interventions. Currently, little guidance exists on how behavioral and psychopharmacological interventions should be applied or combined. This paper presents a paradigm for integrating behavior-analytic and psychopharmacological treatment interventions in the treatment of persons with developmental disabilities that meets applicable standards. Our model is consistent with the least restrictive, yet effective treatment philosophy. Implications for research and treatment are presented.

Behavior Therapy↗
PubMedDate not supplied

Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil.

BACKGROUND: The Brazilian population has been the focus of intensive genetic study due to admixture characteristics whereas there are few reports on the variability of VNTR loci in Brazil. PRIMARY OBJECTIVE: The aim of this study was to analyse genetic parameters in sample populations from two geographically distant regions: São Luis City, in Maranhão State and Campinas City, in São Paulo State. We investigated if distinct colonization influences could produce detectable differences in genetic background. SUBJECT AND METHODS: DNA samples from peripheral drained blood were obtained from unrelated individuals who underwent paternity testing. Allelic variation in six VNTR loci (D2S44, D4S139, D5S110, D8S358, DI0S28 and D17S79) was evaluated. The results were compared to reference databases available for general Latin-derived European and African-American populations as well as for other Brazilian groups. RESULTS: This study reveals that forensic population parameters did not show differences among regions, although we detected admixture values varying between the south-east and north-east of Brazil. CONCLUSIONS: Differences between the two samples are probably due to different admixture proportions of European- and African-derived alleles in each region: both populations are in Hardy Weinberg equilibrium. In addition, the allelic frequency for all loci, in both populations, can be used as database for forensic purposes.

Alleles↗
PubMedDate not supplied

Enhancement of blood pressure response to dopamine by angiotensin II.

The interaction of dopamine and angiotensin II (AII) on blood pressure and heart rate was studied in rats. The influence of reserpine pretreatment and vagotomy was also studied. Inbred rats anesthetized with urethane received intravenous (i.v.) doses of 50, 100, 200, or 400 micron g (per 100 g body weight) of dopamine HCI, before and after a single i.v. dose of 0.025 micron g of AII. The same doses of dopamine were tested in vagotomized rats and in rats pretreated with reserpine. The effect of dopamine alone on blood pressure was biphasic, since 16 of 38 rats showed an early fall followed by a later rise. The early fall decreased significantly with the dose and was absent with the highest dose tested (400 micron g). The late rise was observed in all experiments, and it increased significantly with the dose. Parallel to hypotension, a decrease of heart rate was observed, but both phenomena appeared not to be linked by a sauce-effect relationship. Vagotomy prevented both hypotension and bradycardia induced by dopamine. Angiotensin II inhibited the early fall and increased the late rise of blood pressure induced by dopamine but had no effect on the bradycardia. Reserpine retreatment prevented the hypotensive and enhanced the hypertensive response to dopamine, and in this situation dopamine induced cardiac arrhythmia. The interaction between dopamine and AII is inhibited by pretreatment with reserpine. The early hypotensive phase and bradycardia caused by dopamine appeared to be the consequence of a vagal reflex.

Angiotensin II↗
PubMedDate not supplied

On a new species of Hysterothylacium (Nematoda: Anisakidae) from Cauque mauleanum (Pisces: Atherinidae) by brightfield and scanning electron microscopy.

Hysterothylacium geschei n. sp. (Nematoda, Anisakidae) is described from the intestine of Cauque mauleanum (Steindachner) (Pisces: Atherinidae) from Lake Panguipulli (39 degrees-43'S; 72 degrees-13'W), Chile. Eleven (78.6%) out of 14 fish were infected, with a mean intensity (range) of 14.4 (1-55) worms. The new species can be differentiated from the two previously described species of freshwater fishes from South America by the presence of lateral alae, the number of caudal papillae, and the length of the spicules, oesophagus, intestinal caecum, distance vulva-anterior extremity and the length ratio intestinal caecum: ventricular appendix. From the fishes examined in Lake Panguipulli, including the introduced salmonid species Oncorhynchus mykiss (Walbaum) and the authochthonous species Basilichthys australis Eigenmann (Atherinidae) and Percichthys trucha (Valenciennes) (Percichthyidae), only one specimen of P. trucha was found parasitized by a third-stage larva of this species.

Animals↗
PubMedDate not supplied

Brain metastases of a malignant fibrous histiocytoma presenting as an acute cerebral hemorrhage.

Intracranial metastases from malignant fibrous histiocytoma (MFH) are rare, particularly with associated hemorrhage. This article reports one case and presents a review of the literature on this topic. A 55-year-old man presented with acute drowsiness, aphasia and right homonymous hemianopsia and hemiparesis. The first CT scan showed a left occipitoparietal hematoma and the second one, nodular, contrast-enhanced lesions. He had been previously operated on soft tissues MFH. Lung metastases developed subsequently. A craniotomy was performed with evacuation of the hematoma and total gross resection of the mass lesions. Microscopic examination disclosed a metastasis from a MFH. Neoangiogenesis, stimulated by angiogenic growth factors, seems to take part in this vascular, stroke-like event. Due to longer survivals of patients harboring systemic sarcomas, these tumors should be considered in the differential diagnosis of intracranial neoplasms, whether hemorrhagic or not. In particular, history of a previous soft tissue or heart tumor associated with lung metastasis should evoke the possibility of MFH metastasis.

Biomarkers, Tumor↗
PubMedDate not supplied

[Parasitic helminths infection in Coho salmón, Oncorhynchus kisutch, during their return to Simpson river, Chile].

Between may and july 1994, 17 adult returning salmons, Oncorhynchus kisutch, were collected in the River Simpson, Chile. All fishes showed infection by plerocercoids of Diphyllobothrium sp. in different locations: stomach, spleen, liver, mesenteries and gonads. Infection with larval cestodes of an unidentified species of Phillobothriidae was determined in the intestine of seven (41.2%) salmons and its prevalences of infection showed significant differences between female and male salmons. The 94.4% of total plerocercoids of Diphyllobothrium were isolated from the stomach wall. Prevalence and mean intensity of infection by Diphyllobothrium sp. did not show significant differences between fishes of different sex.

Animals↗