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Biomedical subjects

S Puig

Publications and source records attributed to S Puig.

At least 73 records · Page 4Linked to original sources
PubMed2000

Mitotic recombination and genetic changes in Saccharomyces cerevisiae during wine fermentation.

Natural strains of Saccharomyces cerevisiae are prototrophic homothallic yeasts that sporulate poorly, are often heterozygous, and may be aneuploid. This genomic constitution may confer selective advantages in some environments. Different mechanisms of recombination, such as meiosis or mitotic rearrangement of chromosomes, have been proposed for wine strains. We studied the stability of the URA3 locus of a URA3/ura3 wine yeast in consecutive grape must fermentations. ura3/ura3 homozygotes were detected at a rate of 1 x 10(-5) to 3 x 10(-5) per generation, and mitotic rearrangements for chromosomes VIII and XII appeared after 30 mitotic divisions. We used the karyotype as a meiotic marker and determined that sporulation was not involved in this process. Thus, we propose a hypothesis for the genome changes in wine yeasts during vinification. This putative mechanism involves mitotic recombination between homologous sequences and does not necessarily imply meiosis.

Chromosomes, Fungal↗
PubMed2000

Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases. Hospital Clinic Malignant Melanoma Group, University of Barcelona.

Cutaneous malignant melanoma (CMM) is an aggressive tumour with a high metastatic potential. Deletions of chromosome 9p have been detected in CMM, some of which involve the CDKN2A/p14ARF genes. Loss of heterozygosity (LOH) of 16 microsatellite markers on 9p and mutations in the CDKN2A/p14ARF genes had been previously studied in 32 melanoma patients by our group. 9p deletions were detected in 15 primary tumours (45.5%) and are here correlated with the clinical outcome over 5 years and compared with classical prognostic factors. Eight of the 32 patients developed metastases (25%). The metastases were all detected within 768 days of the initial diagnosis. The patients without metastases were last monitored at least 1621 days after diagnosis. None of the 21 patients with more than eight microsatellites conserved developed metastases, whereas all of the eight patients who developed metastases had eight or more markers deleted. The sensitivity of this analysis to predict metastases was 100% (specificity 84%), whereas the sensitivity for the same sample using a Breslow thickness > 3 mm was 62.5% (specificity 68%). LOH of eight or more of the 9p microsatellite markers is therefore a useful prognostic factor to predict the development of metastases in the first 4.4-6.3 years (1621-2294 days).

Chromosome Deletion↗
PubMed1999

Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.

Cutaneous malignant melanoma (CMM) is a common skin cancer. About 50% of CMM sporadic tumours have lost one copy of the chromosome 9p21 region. To identify genes involved in the initiation and/or progression of CMM we have characterised the 9p21 melanoma deleted region and screened the human expressed sequence tag (EST) databases (dbEST) to search for expressed genes. We have identified the gene that encodes the human orthologue of the rat phospholipase A2 activating protein (PLAP). PLAP was considered a potential candidate to be involved in malignant melanoma because it maps to the critical region for CMM and because the PLA2 gene has been identified as a modifier of the APC gene, responsible for the adenomatous polyposis phenotype in the mouse. PLAP encodes a protein of 738 amino acids and has a high DNA (90%) and protein (97%) sequence similarity with the rat and mouse PLAP protein. PLAP has a region of WD40 repeats in the amino-terminus, which allows us to include this protein in the superfamily of beta-transducin proteins. Northern blot hybridisation gave a fragment of 4.5 kb, with higher expression in heart compared to other tissues. PLAP was localised at chromosome 9p21, between marker AFM218xg11 and TEK. SSCP analysis of the coding region of PLAP revealed no variants in the studied samples, but one of six CMM samples analysed by RT-PCR showed specific inactivation of PLAP. Despite PLAP's important role in mediating several cellular responses and its localisation to the chromosome 9p21 region deleted in CMM, it is unlikely that point mutations or deletions in the coding region of PLAP are responsible for the initiation or progression of CMM. Further studies on PLAP inactivation should be performed to clarify its potential involvement in CMM.

Amino Acid Sequence↗
PubMed1999

Is there a diagnostic role for bone scanning of patients with a high pretest probability for metastatic renal cell carcinoma?

BACKGROUND: The utility of performing whole-body bone scintigraphy (BS) as part of a routine staging workup for patients with renal cell carcinoma (RCC) is currently being debated. This study investigated the diagnostic performance of BS in 36 patients with a high pretest probability for bone metastases due to abnormal laboratory tests, pain, or confirmed nonosseous metastases. METHODS: Planar whole-body BS was performed in all patients 3 hours after the intravenous injection of 555 MBq (15 mCi) of technetium-99m-3,3-diphosphono-1,2-propane dicarboxylic acid tetrasodium salt). RESULTS: In 14 of 36 patients, bone metastases could be confirmed either due to computed tomography or magnetic resonance imaging (n=11) or open site directed biopsy (n=3), respectively. The sensitivity ranged from 10% to 60%, depending on the applied visual threshold. The extent of the metastatic involvement was underestimated in all cases. No diagnostic pattern of tracer accumulation, clinical features, or laboratory tests was identified as enhancing the sensitivity for the detection of bone metastases in this population. CONCLUSIONS: The authors concluded that, even among preselected patients, BS has no diagnostic role in RCC and should therefore be omitted from the clinical workup.

Bone Neoplasms↗
PubMed1999

Pulmonary echinococcosis (hydatidosis) in children: results of surgical treatment.

From 1986-1996, 33 children with 49 pulmonary hydatid cysts underwent surgical treatment in Vienna and Istanbul. Cysts were unilateral in 28 and bilateral in 5 cases; unruptured cysts (URC) were diagnosed in 19 patients, and 14 children presented with ruptured cysts (RC). Ten patients had cysts in other organs (liver, spleen, central nervous system) in addition to pulmonary cysts. Diagnosis was primarily based on chest X-ray and computed tomography scan. In Austrian children, a new combination of serological tests was used successfully (71% positive). The standard surgical procedure was cystotomy followed by capitonnage. The main postoperative complications were fever and wound infection. There were two recurrences after a mean follow-up of 4.8 years, and one patient died because of multiple organ involvement. We conclude that the therapy of choice in pediatric pulmonary hydatidosis is complete surgical elimination of the cyst by cystotomy and capitonnage, whereas more extended resections should be avoided. Ideally, benzimidazole treatment should be combined with surgery. New serological tests can improve diagnostic accuracy.

Adolescent↗
PubMed1999

[Radiologic staging of thoracic and abdominal tumors in childhood].

Thoracoabdominal tumors in childhood can arise from all organs and affect children from the neonate to the adolescent. Better prognosis of childhood tumors, due to better biological understanding and improvement of chemotherapy, require sufficient radiological staging. Sufficiency in radiological staging needs modern cross-sectional techniques with high resolution, good availability and lower radiation dose. In general computed tomography (CT) is being used for radiological staging; increasingly MR imaging is being used because of multiplanar imaging techniques. Replacement of invasive techniques such as myelography and lymphography and modern cross-sectional techniques create painless staging conditions. Nevertheless, scintigraphy will always be a major examination technique, especially for evaluation of metastases and postoperative control examinations. The most common thoracoabdominal tumors in childhood and their staging are described.

Abdomen↗
PubMed1999

Stochastic nucleosome positioning in a yeast chromatin region is not dependent on histone H1.

To gain a better understanding of the function of the yeast histone H1, its role in nucleosome positioning was studied. With this objective in mind, we analyzed a chromatin region of the yeast Chromosome (Chr) IX, in which there are two closely packed open reading frames (ORFs), POT1 and YIL161w. This locus shows a regular ladder of 13 stochastically positioned nucleosomes, which is unaffected by the absence of the HHO1 gene. This suggests that histone H1 has no effect on nucleosome positioning in yeast.

Chromatin↗
PubMed1999

Transcriptional and structural study of a region of two convergent overlapping yeast genes.

The exceptionally close packing of many yeast genes and other chromosomal elements raises the question of how those elements are functionally insulated. All published work shows that natural insulators are very effective, but transcriptional interference (TI) occurs if they are mutated or if their natural context is altered. Mechanisms to avoid TI are poorly understood, but are thought to involve an interplay of cis sequences and trans factors in a chromatin context. We have studied the case of two convergent closely packed ORFs (56 bp of separation) in chromosome IX of Saccharomyces cerevisiae. mRNAs from POT1 and YIL161w overlap by up to 115 nt. Convergent transcription causes a small but noticeable negative effect on the level of POT1 mRNA and nucleosome displacement in the intergenic region. This suggests for the first time that some TI could occur in convergently transcribed yeast genes, even in a natural chromosomal context.

Fungal Proteins↗
PubMed1999

Validation of an automated liquid chromatographic method for omeprazole in human plasma using on-line solid-phase extraction.

An automated system using on-line solid-phase extraction and HPLC with UV detection has been validated in order to determine omeprazole in human plasma. The extraction was carried out using C18 cartridges. After washing, omeprazole was eluted from the cartridge with mobile phase onto an Inertsil ODS-2 column. The developed method was selective and linear for drug concentrations ranging between 5 and 500 ng ml(-1). The recovery of omeprazole ranged from 88.1 to 101.5%, and the limit of quantitation (LOQ) was 5 ng ml(-1). The intraday accuracy ranged from 93.1 to 106.2% and the interday accuracy varied from 95.4 to 105.1%. For the LOQ, good values of precision (8.7 and 17.5% for intraday and interday, respectively) were also obtained. This automated system has been applied to determine omeprazole in human plasma samples from bioequivalence studies.

2-Pyridinylmethylsulfinylbenzimidazoles↗
PubMed1999

Absorption, distribution, metabolism and excretion of cizolirtine, a new analgesic compound, in rat and dog.

1. The pharmacokinetics of cizolirtine citrate, a new analgesic compound, were studied in the rat and dog following single oral and intravenous doses. 2. Absorption of radioactivity was fast and complete regardless of the species, and no dose and food-related differences were found. However, the elimination half-life of unchanged cizolirtine was shorter in rat than in dog. 3. Tissue distribution of total radioactivity in rat differed widely and a high affinity for liver, kidney, gastrointestinal and pigmented tissues was observed. In blood and almost all tissues the highest concentrations were reached at 20 min; beyond that time the decline of radioactivity in most tissues was parallel to that in blood. 4. The percentage of radioactivity excreted in the rat was 68% in urine and 21% in faeces, the latter being apparently due to drug enterohepatic circulation. In the dog, 92 and 4% of the radioactivity was found in urine and faeces respectively. The contribution of renal excretion to cizolirtine elimination was <5% in rat and 20% in dog. Twelve metabolites were detected in rat and six in the dog by radio-hplc analysis of urine.

Absorption↗
PubMed1999

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene. In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families, and nine patients with multiple CMM and other neoplasia. We have detected germline CDKN2A mutations in six out of the 34 families (17%). A frameshift mutation (358delG) and four missense mutations (G59V, G101W (two cases), D84Y, and R87W) were identified. Five CMM patients from different families (14%) carried the A148T variant, which is known not to affect p16 activity. No mutations were detected in the patients with multiple CMM or other neoplasms. We have not found mutations either in exon 1 beta of the CDKN2A gene or in exon 2A of CDK4. Linkage analysis of the 9p21 region showed exclusion for one of the families for CMM and for four families for CMM/dysplastic naevi. This study indicates a small role for CDKN2A in Spanish CMM families and suggests that other genes are also responsible for CMM predisposition.

Carrier Proteins↗
PubMed1998

Quality of life and psychosocial adjustment of young patients after treatment of bone cancer.

BACKGROUND: The aim of this study was to collect information about the psychosocial situation of young patients after multimodality therapy for bone cancer. METHODS: Selection criteria for patients were ages 15-30 years, tumor localization at the extremities, and an interval of at least 1 year since the end of treatment. Of 110 patients, 60 were willing to participate. Evaluation of psychosocial quality of life included assessment of psychosocial adjustment and age-appropriate achievements as well as identification of problems typical for this patient group. RESULTS: Approximately 80% of patients revealed, at the very most, only minor psychosocial problems. They were able to adapt well to their new living conditions, although strong efforts were necessary for them to deal with problems such as restricted mobility, catching up with school, or changing jobs or job orientation. Differences between patients and control subjects emerged in the areas of marital status, independent living, and parenthood. The most recently determined levels of education and income were similar. Neither clinical data nor physical or functional sequelae affected psychosocial adjustment, with one exception: patients diagnosed in adolescence had significantly more problems, especially in the area of social well-being, than patients diagnosed in childhood or early adulthood. CONCLUSIONS: Given the limitations of this study, the findings suggest that survivors of bone cancer are not necessarily at risk of developing long term emotional or social problems and are not precluded from leading active and independent lives.

Adaptation, Psychological↗
PubMed1998

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma.

CDKN2A has been found mutated in melanoma families which show linkage to chromosome 9p21. In contrast, a low mutation rate has been found in melanomas, suggesting that CDKN2A might not be the first target for mutation in the development of this type of tumour. To elucidate the role of the CDKN2A gene and its alternative transcript p19ARF in the development of cutaneous malignant melanoma (CMM) we have analyzed 48 primary and metastasic CMM tumours for mutations and for loss of heterozygosity (LOH). Only one point mutation was detected (2%), while hemizygous deletions were identified in 20% of these tumours. Retention of the CDKN2A locus was found in 10 (47%) tumours with deletions at one or both sides of CDKN2A, suggesting that loss of this gene is not involved in CMM-tumour initiation and that another tumour-suppressor gene involved in melanoma is located at 9p21.

Gene Deletion↗
PubMed1998

[The value of sonography in the intensive care unit for the diagnosis of diaphragmatic paralysis].

PURPOSE: To assess the value of bedside sonography in the detection of diaphragmatic paralysis in patients in the intensive care unit. METHODS: In this study, 100 patients who were admitted to the intensive care unit after thoracic operations were evaluated. Sonography of each hemidiaphragm was performed with coronal scans at the mid-axillary line on both sides with the patient supine. Absent and paradoxical diaphragmatic movement was considered to be indicative of diaphragmatic paralysis. All patients underwent additional fluoroscopy within 5 days. RESULTS: In 13 patients (13%) sonography revealed diaphragmatic paralysis. All these results were confirmed with fluoroscopy resulting in a sensitivity and specificity for sonography of 100%. CONCLUSION: Bedside sonography of the diaphragm at the intensive care unit is a reliable tool for diagnosing diaphragmatic paralysis.

Adult↗
PubMed1998

[Treatment of arterial aneurysms of the pelvic leg vessels using dacron covered nitinol stents].

PURPOSE: To evaluate the success rates of the implantation of stent grafts in the treatment of peripheral aneurysms. MATERIALS AND METHODS: In 13 patients with 15 aneurysms at the common iliac artery (n = 6), external iliac artery (n = 1), hypogastric artery (n = 2), femoral artery (n = 2) or popliteal artery (n = 4), implantation of dacron-covered nitinol stents was performed. The patients were followed up for three to 20 months (mean, 8.8 months) with intravenous digital subtraction angiography, CT or colour-coded Doppler sonography. RESULTS: In all cases, the aneurysm was successfully occluded after stent implantation. In one case with a popliteal aneurysm, kinking of the vessel caused thrombosis of the stent. The stent was successfully reopened. The aneurysm however, had to be surgically treated 9 months later. The primary and secondary patency rates at 6 months were 93% and 100%, respectively. CONCLUSION: The method described might be an alternative therapy to surgery. There are some limitations in respect of treatment of popliteal aneurysms.

Adult↗
PubMed1998

[Prevalence of abdominal aortic aneurysms: a sonographic screening study].

PURPOSE: To determine the prevalence of abdominal aortic aneurysms (AAA) in males above 60 years of age. METHODS: 1043 males of 60 years of age or older underwent sonographic examinations of the abdominal aorta. All of the candidates had volunteered for the examination, and special care was taken to avoid preselection of the candidates. Wherever possible, information was obtained on the following risk factors: cholesterol level, nicotine, diabetes, insulin and other medication, hypertonia and cardiac risk. RESULTS: An AAA was diagnosed in 2.59% of the cases, while ectasia of the abdominal aorta was detected in 11.89%. The mean diameter of the aneurysms was 39.1 mm. Significant correlations between the various risk factors and abnormalities of the abdominal aorta could be established in patients suffering from angina pectoris (p = 0.004) and from congestive heart failure (p = 0.014). CONCLUSIONS: AAA in males above 60 occurs in 2,590 out of 100,000 cases. The most noteworthy risk factors in the development of AAA are cardiovascular disorders.

Age Factors↗
PubMed1998

Melanomas, from the cell cycle point of view (Review).

Transformation of melanocytes to metastatic melanoma cells is characterized by unrestricted proliferation under growth-factor-deprived conditions, genetic loss of cyclin dependent kinase (CDK) inhibitors (CKI, e.g. p16INK4A), and aberrant production of autocrine growth factors (e.g. basic fibroblast growth factor). The latter induces increased expression of positive CDK regulators (e.g. cyclin D1) and reduced expression of additional CKIs (e.g. p27KIP1). Combined, these events lead to sustained CDK activity and hyperphosphorylation/inactivation of the retinoblastoma tumor suppressor protein (Rb). The persistent Rb phosphorylation causes the accumulation of E2F and the transcription of its target genes whose products promote cell cycle progression.

Cell Cycle↗