Biomedical subjects

A S Barbosa

Publications and source records attributed to A S Barbosa.

7 recordsLinked to original sources

PubMed2006

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

OBJECTIVE: PROP1 mutations are the most common cause of genetic combined pituitary hormone deficiency (CPHD). The aim of this study was to investigate the PROP1 gene in two siblings with CPHD. DESIGN: Pituitary function and imaging assessment and molecular analysis of PROP1. PATIENTS: Two siblings, born to consanguineous parents, presented with GH deficiency associated with other pituitary hormone deficiencies (TSH, PRL and gonadotrophins). The male sibling also had an evolving cortisol deficiency. METHODS: Pituitary size was evaluated by magnetic resonance imaging (MRI). PROP1 gene analysis was performed by polymerase chain reaction (PCR), automatic sequencing and Southern blotting. Amplification of sequence tag sites (STS) and the Q8N6H0 gene flanking PROP1 were performed to define the extension of PROP1 deletion. RESULTS: MRI revealed a hypoplastic anterior pituitary in the girl at 14 years and pituitary enlargement in the boy at 18 years. The PROP1 gene failed to amplify in both siblings, whereas other genes were amplified. Southern blotting analysis revealed the PROP1 band in the controls and confirmed complete PROP1 deletion in both siblings. The extension of the deletion was 18.4 kb. The region flanking PROP1 contains several Alu core sequences that might have facilitated stem-loop-mediated excision of PROP1. CONCLUSIONS: We report here a complete deletion of PROP1 in two siblings with CPHD phenotype.

Adolescent↗

PubMed2003

[District allocation and utilization of health care services in Pau da Lima, Salvador, Bahia, Brazil].

This cross-sectional study is aimed at the identification of patterns in the utilization of health care services in Pau da Lima, a neighborhood in the city of Salvador, Bahia. In 1992, a household survey was carried out with 384 families selected through a random cluster sampling design. In each household, the family head or a surrogate informant was asked to answer a questionnaire about their use of any type of health care in the last month. From the total of 1,887 individuals, 236 reported at least one visit to health facilities during the referent period This means an estimated prevalence of health services utilization of 12.5%. With regard to the type of services, 25.9% of all visits were made to public sector facilities. Attendants were mainly women (73.7%) from 15 to 29 years of age. The main reason reported for the choice of the health facility was availability (63.7%), and the major reason for seeking health care was disease-related conditions (75.7%), rather than preventive procedures. These findings may result from the still unfinished process of distritalização(district allocation of services), which is evident in the lack of health services' infrastructure or coverage, as well as in persistent organizational problems. These issues may lead the population living in the respective district to seek health care outside the assigned catchment area. The authors discuss these findings in the context of the expansion of the private sector in the health area and the financial collapse of the public budget in Brazil.

English Abstract↗

PubMed1999

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.

Denys-Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms' tumor. Heterozygous point mutations in the Wilms' tumor, type1 gene (WT1), particularly those altering the zinc finger (ZF) encoding exons, have been reported in most DDS patients, while mutations in intron 9 of the same gene cause FS. This paper describes two cases of DDS, one FS and one patient with Wilm's tumor and intersex genitalia, in which mutations were searched by sequencing the exons 8 and 9 of WT1 gene. Patient 1 carried a missense point mutation in exon 8 (ZF2), converting a CGA-Arg codon to a TGA-stop codon. Patient 2 presented a single nucleotide deletion within exon 9 (ZF3) introducing a premature chain termination at codon 398. Patients 3 and 4 had a C-->T transition at position +4 of the second alternative splice donor site of exon 9 (this mutation was detected in peripheral blood and in tumor derived DNA of patient 3). However, patient 3 had previously developed a Wilms' tumor. This is the first case of Wilms' tumor development in a phenotypically and genetically confirmed case of FS.

Adolescent↗

PubMed1997

RB1 deletion in gonadoblastoma in an XY female.

Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral gonadoblastoma were performed. The karyotype was 46,XY in peripheral blood lymphocytes and skin fibroblasts. The conserved region of the SRY gene was detected by polymerase chain reaction amplification. Sequencing of this region did not reveal any alterations. A 46,XY chromosome constitution was observed in the right gonadoblastoma, but a partial deletion of chromosome 13 was present in the left tumor. This deletion included band 13q14, where the retinoblastoma gene is mapped. The study of the polymorphism of the variable number of tandem repeats region in intron 17 of the RB1 locus disclosed loss of heterozygosity in both the left tumor, which showed the deletion of chromosome 13, and in the right tumor, where no chromosome alterations of chromosome 13 were detected. In situ hybridization covering 130 kb of RB1 showed that a partial deletion of one of the RB1 alleles had occurred in the right tumor. Since the deletions affected different alleles in each tumor, independent events must have been involved in the development of the tumors. These findings point toward a significant role of RB1 in the development of gonadoblastoma.

Adolescent↗

PubMed1995

XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.

This paper reports a case of XY gonadal dysgenesis in two sisters. Both patients presented an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder sister was found to have bilateral gonadoblastoma. Cytogenetic studies, which included G and C banding and in situ hybridization, showed that the patients had an apparently normal 46, XY karyotype. PCR analyses revealed absence of the conserved portion (HMG box) of the SRY gene and of the Y chromosome pseudoautosomal boundary region sequence in both patients. The presence of the ZFY sequence was detected by Southern hybridization in the two affected sisters. The patients' father (46, XY, no mosaicism detected in peripheral blood lymphocytes) was positive for SRY and ZFY sequences. The occurrence of gonadoblastoma is discussed in terms of the genetic factors that may lead to tumor development.

Adolescent↗

PubMed1994

Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.

Two agonadic sisters, one with a 46,XY and the other with a 46,XX karyotype, both with normal female external genitalia and hypoplastic Müllerian derivatives, born to a consanguineous marriage, were studied from a clinical, endocrinological, histological, and genetic perspective. Using PCR amplification, Southern hybridization, and DGGE analysis, it was found that the XY patient had no mutations in the conserved sequence of the SRY gene, the putative testis-determining gene in mammals, whereas her XX affected sister is SRY-negative. To our knowledge, this is the first report of XY and XX sibs in familial gonadal agenesis without other somatic abnormalities. The involvement of an autosomal locus impeding gonadal development in both sexes is discussed.

Adult↗

PubMed1984

Maximal oxygen uptake during exercise using trained or untrained muscles.

Maximal oxygen uptake, VO2 max, was determined for cyclists, long-distance runners and non-athletes during uphill running (treadmill) and cycling (cycloergometer) to compare trained and untrained muscles. Blood lactate, maximal heart rate and maximal ventilation during work were also measured. VO2 max was higher for runners and non-athletes during exercise on the treadmill and higher for cyclists during exercise on the cycloergometer. For runners and non-athletes, maximal heart rate accompanied the increase in VO2 max, whereas similar values were obtained for cyclists on both ergometers. Maximal ventilation during work accompanied the difference in VO2 max in both groups of athletes but among non-athletes it was similar during exercise on both the cycloergometer and the treadmill. Blood lactate was similar during exercise on both ergometers for all groups. These results suggest that the quantitative effects of training on cardiovascular and respiratory functions may only be properly evaluated by using an ergometer which requires an activity similar to that usually performed by the subjects. Cycle riding may possibly induce significant and specific alterations in the muscles involved in the exercise, thus increasing peripheral O2 uptake even after stabilization of maximal cardiac output, whereas running may well induce an improvement of all factors which are responsible for aerobic work power.

Bicycling↗