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F Bonilla

Publications and source records attributed to F Bonilla.

At least 55 records · Page 3Linked to original sources
PubMed1999

Treatment of gastric phytobezoars with cellulase.

BACKGROUND: The aim of our study was to analyze the efficacy of cellulase in dissolving gastric phytobezoars. METHODS: We carried out a prospective study over a period of 1 year. All patients (7 cases) diagnosed as having gastric phytobezoar on gastroscopy were treated with cellulase. RESULTS: Complete dissolution of the gastric phytobezoar was achieved in all 7 patients. No side effects or recurrences occurred during follow-up. DISCUSSION: We conclude that cellulase should be regarded as the treatment of choice for gastric phytobezoars because of its efficacy, and because of the lack of side effects or recurrences. However, further clinical trials are necessary to verify these findings.

Adult↗
PubMed1999

TP53 gene mutations in plasma DNA of cancer patients.

Using different molecular techniques, DNA has been shown to be present in plasma of patients with several types of tumors. Mutations of TP53 are the most common genetic changes in human cancers. We investigated the presence of TP53 gene mutations in plasma DNA of breast and small cell lung cancer patients. Tumor and plasma DNA of 25 patients were studied by PCR-SSCP and direct sequencing, through exons 5, 6, 7, and 8, of TP53. Six cases of mutations in tumor DNA were observed that, in 3 cases (50%), were also identified in plasma of the same patients. Mutations of the TP53 gene are seen in plasma DNA of cancer patients, and may prove to be a useful new tool in the management of these patients.

Breast Neoplasms↗
PubMed1998

Loss of heterozygosity in the region including the BRCA1 gene on 17q in colon cancer.

Colon cancer has been proved to be an excellent model to identify and to study the different genetic alterations taking part in its development. BRCA1, a susceptibility gene for breast cancer, has been identified. Evidence of a significant risk for colon cancer in BRCA1-linked families has been reported. We undertook the present study to investigate the possible relation of BRCA1 and other genes on chromosome 17q21 to colon cancer. Eighty-five tumors were examined for loss of heterozygosity at seven microsatellite loci spanning the 17q21 region. Loss of heterozygosity was present in 39 (49%) of the 79 informative cases, with at least one marker. Two loci, D17S855 and D17S579, showed higher rates of allelic loss (16% and 22%, respectively) than the remaining markers. Tumors on the right side of the colon exhibited allelic loss more frequently than those on the left side. Our data suggest that BRCA1 and other genes in the 17q21 region may play an important role in the development of colon cancer.

Base Sequence↗
PubMed1998

Germ-line BRCA1 mutations in women with sporadic breast cancer: clinical correlations.

PURPOSE: Sporadic nonhereditary breast cancer is recognized as the most common form of this malignancy. Presence of germ-line mutations in the BRCA1 gene of these tumors is an infrequent event. We undertook the present study to evaluate the prevalence of germ-line mutations in patients diagnosed with sporadic breast cancer, and to delimit the clinical spectrum of this subgroup of patients with germ-line mutations and their differences with respect to patients with no evidence of BRCA1 gene mutations. METHODS: We studied 105 patients diagnosed with breast cancer, selected from among our living patients; those with carcinoma-in-situ and those with a definite family history of breast or ovarian cancer were excluded. Genomic DNA, obtained from peripheral-blood lymphocytes, was studied for BRCA1 mutations by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) and direct DNA sequencing. Fourteen clinicopathologic parameters were analyzed in each patient. RESULTS: Six (5.7%) frameshift mutations that corresponded to truncating proteins and three missense mutations, the functional meaning of which remains speculative, were identified. The patients with germ-line mutations were found to have a more advanced age at diagnosis, as well as a longer median survival (51 months). CONCLUSION: Women with sporadic breast cancer of late onset may display a significant incidence of germline BRCA1 mutations, which occur at a rate not previously determined in this group of patients. The presence of variations in the sequence of the BRCA1 gene could influence the longer survival observed in these patients.

Adult↗
PubMed1998

Mutational study of p16CDKN2/MTS1/INK4A and p57KIP2 genes in hepatocellular carcinoma.

p16 and p15 are representative members of cyclin-dependent kinase inhibitors. Because the selective expression of p57KIP2 in liver, and because p16CDKN2/MTS1/INK4A has been found altered in many primary tumors, we undertook the present study to determine the presence of alterations in these genes in a group of hepatocellular carcinomas (HCC). Seventeen tumor and normal DNA pairs were analyzed by Southern blot, PCR-SSCP and DNA sequencing. Microsatellite markers surrounding the area of the p16 gene was also used. Southern blot analysis did not show allelic losses of the p16 or p57KIP2 genes. In 4 cases, an extra band was observed when hybridizing with the specific p16 cDNA. Overall, 4/17 (24%) cases presented microsatellite alterations at the 9p21-24 region. These results suggest that deletions or point mutations in these genes are not frequent if present at all in HCC, but reveals the existence of microsatellite alterations at the 9p21-24 region in HCC.

Amino Acid Substitution↗
PubMed1998

Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.

Eighty-three families with two or more cases of breast and ovarian cancer were selected to evaluate the prevalence rate of BRCA1 gene mutations, and identify healthy carriers. Blood samples from patients and healthy relatives were obtained. Haplotype study of the 17q21 region using 7 polymorphic markers was performed. Mutational analysis of the coding exons of the BRCA1 gene was performed by the PCR-SSCP method and direct sequencing. We detected germline mutations (frameshift and missense) in 6 families (9.1%). Combining haplotype analysis and PCR-SSCP screening, 18 (15%) healthy female carriers were identified. The prevalence rate of germline BRCA1 gene mutations among our families with breast cancer syndrome is low, and relatives having the same haplotype for the 17q21 region as mutation-carrying patients usually display the same genomic sequence as the patients.

Breast Neoplasms↗
PubMed1998

Early diagnosis of conjoined twins using two-dimensional color Doppler and three-dimensional ultrasound.

Transvaginal three-dimensional (3-D) and color Doppler ultrasound were used to establish a first-trimester definitive diagnosis and classification of thoracoomphalopagus conjoined twins following two-dimensional (2-D) transabdominal and transvaginal scans that indicated twin gestation of uncertain classification. Color Doppler in combination with 3-D ultrasound can be a useful complement to 2-D ultrasound to confirm early diagnosis and determine the extent of organ sharing and definitive classification of conjoined twins.

Abortion, Induced↗
PubMed1996

Cyclin-dependent kinase inhibitor p57KIP2 in soft tissue sarcomas and Wilms'tumors.

Mammalian cyclin-dependent kinase inhibitors fall into two families, the INK4 and the CIP/KIP. The CIP/KIP family comprises three structurally related members, including p21CiP1/WAF1, p27KIP1, and p57KIP2. These proteins are all capable of inhibiting the progression of the cell cycle by binding and inhibiting G(1) cyclin/cyclin-dependent kinase complexes. In humans, p57KIP2 is expressed specifically in skeletal muscle, heart, brain, kidney, and lung. Human KIP2 resides in 11p15.5, a chromosomal region that is a common site for loss of heterozygosity in certain sarcomas, Wilms' tumors, and tumors associated with the Beckwith-Wiedemann syndrome. Because of the function, selective expression, and chromosomal location of p57KIP2, we undertook the present study to search for potential mutations of KIP2 in a cohort of 126 tumors composed of 75 soft tissue sarcomas and 51 Wilms' tumors. The KIP2 gene was characterized by Southern blot, comparative multiplex PCR, PCR -single-strand conformational polymorphism, and DNA sequencing assays in these neoplasms. Deletions of the KIP2 gene or point mutations at the region encoding the cyclin-dependent kinase inhibitory domain were not found in the tumors analyzed. The absence of KIP2 mutations might indicate that these tumors arise due to defects at a closely linked but separate locus. Alternatively, similarly to the mouse homologue, inactivation of KIP2 could occur via genomic imprinting.

Adult↗
PubMed1995

[Symptomatic hemobilia following hepatic biopsy. Value of ultrasonography in the diagnosis and control of this complication].

Hemobilia is the term which describes the presence of blood in the biliary tract. We describe a case of symptomatic hemobilia after percutaneous liver biopsy which resolved spontaneously. We review the physiopathology of this complication and we highlight the role of abdominal ultrasonography not only in the diagnosis but also in the follow-up of hemobilia. In our case, abdominal ultrasonography was able to identify the probable point of bleeding.

Biopsy↗