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Biomedical subjects

J Corral

Publications and source records attributed to J Corral.

At least 73 records · Page 4Linked to original sources
PubMed1997

[Community acquired pneumonia. Reliability of the criteria for deciding ambulatory treatment].

To determine whether criteria for not admitting community-acquired pneumonia (CAP) patients diagnosed in the emergency room are appropriate, and to characterize the symptoms, etiology and course of CAP. This one-year prospective, protocol study of immunocompetent CAP patients diagnosed in the emergency room of our hospital enrolled patients not considered to require hospital admission according to the recommendations of the Spanish Society of Respiratory Disease (SEPAR). Medical histories, chest X-rays and blood analysis were obtained for all patients. Blood cultures were analyzed for antibodies against Legionella pneumophila, Mycoplasma pneumoniae, Coxiella burnetii, Chlamydia pneumoniae, Chlamydia psittaci and influenza virus types A and B. The patients received erythromycin for 14 days and were regularly checked by the pulmonologist in the outpatient clinic until signs and symptoms had disappeared. One hundred six patients were enrolled. Mean age was 36 +/- 13 years. Only 3 patients had to be admitted to hospital, after which outcome was good. The main symptoms were fever (106, 100%) and cough (83, 78%). In 46 (43.4%) chest sounds were normal. Microbiologic diagnoses were achieved for 28 (26.4%) and Coxiella burnetii was the agent most often found (19, 17.9%). Outcome was good in all cases, with faster disappearance of symptoms than of radiological signs. The SEPAR criteria for admitting patients with CAP are appropriate. The clinical symptoms of such patients are non specific, a noteworthy finding being that many patients had normal chest sounds. Coxiella burnetii was the most common causative agent. Both clinical and radiological outcomes were excellent.

Adolescent↗
PubMed1997

The venous thrombosis risk factor 20210 A allele of the prothrombin gene is not a major risk factor for arterial thrombotic disease.

A nucleotide change (G to A transition) at position 20210 has recently been demonstrated to be a risk factor for venous thrombosis. The relevance of this polymorphism to thrombotic disease was investigated by genotypic identification in three prospective case-control studies: 101 case patients with acute coronary heart disease (CHD), 104 patients with acute cerebrovascular disease (CVD), 82 patients with a confirmed diagnosis of deep venous thrombosis (DVT), and one control age- and sex-matched for each patient. The prevalence of the genetic variation was significantly associated with the occurrence of DVT, but did not differ in patients with CHD or CVD from that in controls, suggesting that this allele should not be considered a major risk factor for arterial thrombotic disease.

Adult↗
PubMed1997

HPA-1 genotype in arterial thrombosis--role of HPA-1b polymorphism in platelet function.

Recently, the HPA-1b (PlA2) polymorphism of the platelet glycoprotein IIIa has been suggested as a genetic risk factor for coronary artery disease. We conducted two case-control studies of 103 patients with ischaemic cerebrovascular disease (CVD) and 101 patients with ischaemic heart disease (IHD). The groups were matched for age, race and sex. No significant differences regarding selected risk factors (hypertension, diabetes mellitus, hypercholesterolaemia and smoking) were found between case patients and controls. Moreover, we investigated 286 normal individuals from the Mediterranean area. Genotyping of HPA-1 was performed by PCR-allelic specific restriction and single-strand conformation polymorphism analysis. The prevalence of HPA-1b was similar among case patients and controls (29.2% vs. 25.3% and 26.7% vs. 34.6% for CVD and IHD case-control studies, respectively). The HPA-1b allele was found in 36.4% of the normal population. Finally, the analysis of platelet function in nine controls with the three possible HPA-1 genotypes (three a/a, three a/b and three b/b) indicates that HPA-1b genotype does not modify either the in vitro platelet aggregation and activation profile, nor the GP IIb/IIIa interaction with fibrinogen or von Willebrand factor. Our results do not support the role of HPA-1b polymorphism as an inherited risk factor for arterial thrombotic disease.

Adult↗
PubMed1997

Contribution of factor VII genotype to activated FVII levels. Differences in genotype frequencies between northern and southern European populations.

The relationship between coagulation factor VII (FVII) levels in plasma and FVII genotypes, determined by three polymorphisms (5'F7, IVS7, and 353R/Q), were studied in 500 control subjects enrolled in European multicenter study. The selection of particular FVII genotypes and the analysis of variance clearly indicated the independent contribution of a single 5'F7 insertion (A2) or 353Q (M2) allele to lowering plasma levels of activated FVII (FVIIa) (by a mean 25%). The M2 allele alone was found to make a major contribution to the genetically determined component of the FVIIa levels. Genotypes associated with low FVII levels were significantly rarer in the northern part of Europe (Oslo) than in the southern part (Rome, Murcia). The contribution made by the FVII genotype to the total variance of FVIIa levels was higher (30%) than that made to either FVII activity (25%) or FVII antigen (12%). Subjects with different FVII genotypes showed up to fivefold differences in mean FVIIa values, thus allowing attribution of a substantial part of the considerable interindividual variation to genetic variation, which may be of assistance in the interpretation of FVIIa levels on an individual basis. When FVII levels were adjusted by age and by triglyceride levels, the contribution of FVII genotypes to the FVII phenotypic variance was virtually unchanged. Taken together, these data indicate that in healthy control subjects the FVII genotype is a major predictor of plasma FVIIa levels and would support further study on the role of FVII genetic components in the development of cardiovascular disease.

Adult↗
PubMed1996

[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A].

BACKGROUND: Multiple endocrine neoplasm type 2A (MEN 2A) is an autosomal dominantly inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Mutations have been identified in the extracellular domain of the RET proto-oncogen product (10q11.2) in MEN 2A patients. In each case a single base pair substitution results in replacement of cysteine with another amino acid. Most MEN 2A patients have mutations of codon 634. PATIENTS AND METHODS: Sixty-five unrelated MEN 2A patients from seven families were studied. Polymerase chain reaction, segregation, sequence analysis and restriction enzyme digestion were performed. RESULTS: Of seven families, four had the TGC to TAC transition, two families the TGC to TGG transversion and one family the TGC to CGC transition in codon 634 of RET. CONCLUSIONS: We found all the mutations in codon 634. The characterization of MEN 2A mutations allows early and presymptomatic diagnosis in this syndrome.

Base Sequence↗
PubMed1996

An Mll-AF9 fusion gene made by homologous recombination causes acute leukemia in chimeric mice: a method to create fusion oncogenes.

Homologous recombination in embryonal stem cells has been used to produce a fusion oncogene, thereby mimicking chromosomal translocations that frequently result in formation of tumor-specific fusion oncogenes in human malignancies. AF9 sequences were fused into the mouse Mll gene so that expression of the Mll-AF9 fusion gene occurred from endogenous Mll transcription control elements, as in t(9;11) found in human leukemias. Chimeric mice carrying the fusion gene developed tumors, which were restricted to acute myeloid leukemias despite the widespread activity of the Mll promoter. Onset of perceptible disease was preceded by expansion of ES cell derivatives in peripheral blood. This novel use of homologous recombination formally proves that chromosomal translocations contribute to malignancy and provides a general strategy to create fusion oncogenes for studying their role in tumorigenesis.

Acute Disease↗
PubMed1996

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Wolfram syndrome is a progressive neurodegenerative disorder transmitted in an autosomal recessive mode. We report two Wolfram syndrome families harboring multiple deletions of mitochondrial DNA. The deletions reached percentages as high as 85-90% in affected tissues such as the central nervous system of one patient, while in other tissues from the same patient and from other members of the family, the percentages of deleted mitochondrial DNA genomes were only 1-10%. Recently, a Wolfram syndrome gene has been linked to markers on 4p16. In both families linkage between the disease locus and 4p16 markers gave a maximum multipoint lod score of 3.79 at theta = 0 (P<0.03) with respect to D4S431. In these families, the syndrome was caused by mutations in this nucleus-encoded gene which deleteriously interacts with the mitochondrial genome. This is the first evidence of the implication of both genomes in a recessive disease.

Adult↗
PubMed1996

Economic value of gemcitabine compared to cisplatin and etoposide in non-small cell lung cancer.

Although chemotherapy costs have not been highlighted traditionally, there is increasing pressure to demonstrate the value of new treatments within the health care budget. Pharmaceutical companies are assessing the economic value of their products before launch. Gemcitabine is a nucleoside analogue developed for use in solid tumours. The purpose of this model was to investigate the clinical outcomes and potential cost savings for gemcitabine used as monotherapy compared to cisplatin and etoposide combination therapy in late stage non-small cell lung cancer (NSCLC), in a palliative (as opposed to aggressive) chemotherapy setting. Gemcitabine treatment data were taken from a large NSCLC study and data from retrospective chart reviews identified through the National Oncology Data Base. The model population and effectiveness of the two regimens were judged to be similar, except for baseline performance status. If drug costs were not included, the probability distribution resulting from the simulation showed median cost savings per cycle ranging from $US 1504 to $US 7425, with a medium value of $US 2154. The model suggested that gemcitabine would result in cost savings per cycle more than 90% of the time. Outpatient versus inpatient drug administrations accounted for the majority of potential cost savings. Most of the remaining cost savings were attributable to the difference in febrile neutropenia and antiemetic use. This economic model showed susbstantial savings if gemcitabine was used instead of cisplatin and etoposide combination therapy in the United States' community care setting. Some savings would be realized even if the location of treatment for both regimens was mostly outpatient. Assessment of the product's economic value before launch has assisted in our understanding of the potential areas of cost savings for gemcitabine and has guided us in the design of prospective randomized studies which included pharmacoeconomic endpoints.

Antimetabolites, Antineoplastic↗
PubMed1996

[Home mechanical ventilation by nasal mask in a patient with Duchenne's disease].

The clinical course of Duchenne's dystrophy is characterized by respiratory insufficiency secondary to failure of the breathing pump. Up to ten years ago, this respiratory insufficiency was corrected by mechanical ventilation via a tracheostomy. In recent years, nasal mechanical ventilation has been a considerable advance in the treatment of these patients' respiratory problems. We describe a patient with Duchenne's dystrophy who was satisfactorily treated by non-invasive mechanical ventilation.

Adolescent↗
PubMed1996

[Description of 31 pediatric cases of infection caused by human Parvovirus B 19].

FUNDAMENTALS: [corrected] Human Parvovirus B19 has been identified as the etiological agent implicated in several clinical forms of disease. The aim of this study was to define the clinical aspects observed in the children with human parvovirus infection in our hospital. METHODS: A retrospective study was done in 31 pediatric cases observed in our hospital from January-92 to July-94; all had positive IgM against Parvovirus (determined by enzymoinmunoanalysis). RESULTS: The most frequent signs and symptoms were fever in 66.6% of the cases and skin findings in 48%, manifested as typical infectious erythema in 26% and polimorphic nonspecific exanthema in the rest. There were variable blood manifestations, observed in 11 children (35%): Immune Thrombocytopenic purpura, Chronic anemia in immunocompromised hosts, bone marrow erithrophagocytosis and hemolytic crises in non-hemolytic anemia patients. The abnormal blood findings were mostly observed in children with compromised immunity. Articular disease was presented in four children (12%). Long lasting fever was observed in only one case. CONCLUSIONS: In our sample the diversity of clinical forms of presentation of Parvovirus B19 infection is well documented as it is reported by several authors. Although other studies as polymerase chain reaction (PCR), nucleic acid hybridization, direct visualization of the virus or its particles, or viral antigen detection are desirable to confirm the serologic studies.

Adolescent↗
PubMed1996

Detection of factor V Leiden from a drop of blood by PCR-SSCP.

Recently, a point mutation in the coagulation Factor V gene (G to A in position 1691) has been identified which makes the mutant Factor V (called Factor V Leiden) resistant to activated protein C. This defect is a well established genetic risk factor in venous thrombosis. Because of the high prevalence of Factor V Leiden in normal population (2-7%), it would be reasonable to perform a rapid and simple method for screening the genetic abnormality in population at risk. We have developed a simple, reproducible, rapid and cheap procedure that, using PCR and SSCP, allows the identification of the mutation responsible for Factor V Leiden. Specificity of this method has been tested in 319 samples: 304 normal, 14 heterozygous and 1 homozygous for Factor V Leiden. This assay allows non-isotopic Factor V Leiden identification by using frozen whole blood in 3 h. All these features make this test adequate for routine screening of this mutation in a large number of samples.

Factor V↗
PubMed1995

Gene rearrangement in acute non-lymphoblastic leukaemia: correlation with morphological and immunophenotypic characteristics of blast cells.

The presence of Ig and TCR gene rearrangement has been reported to occur in ANLL. However, most of the studies have been performed in short series of patients and, in general, not all rearranging genes have been included. We have investigated the configuration of immunoglobulin (Ig) and T-cell receptor loci (TCR) in a series of 160 untreated patients with de novo acute non-lymphoblastic leukaemia (ANLL) and correlated the results with the morphological and immunophenotypic characteristics of blast cells. IGH gene rearrangement was detected in 16/160 cases analysed (10%) and IGK was rearranged in half of them. The incidence of cases displaying TCRB, TCRG and TCRD rearrangements was 5.6%, 13.8% and 13%, respectively. Concomitant recombinatorial events including different Ig and/or TCR genes were frequently detected. Gene rearrangement was not related to the stage of cell differentiation within the myeloid lineage assessed both by morphological and immunophenotypic criteria. Regarding the correlation with the presence of lymphoid related markers, the only relevant association was between the expression of CD7 antigen and TCRG and TCRD gene rearrangement. Our results show that the incidence of gene rearrangement in ANLL may be slightly higher than previously suspected, and that it is not associated with early stages of cell differentiation nor to the expression of lymphoid markers.

Antigens, CD↗
PubMed1995

Cutaneous sarcoidosis and foreign bodies. An electron probe roentgenographic microanalytic study.

A 60-year-old woman had extensive and recurrent foreign-body granulomatous inflammation of her forehead. The granulomata contained double refractile crystalline material. Electron probe roentgenographic microanalysis identified silicon, calcium, aluminum, potassium, and sulphur in the crystalline material. Silicon-rich particles are generally considered exogenous. A diagnosis of sarcoidosis was confirmed by the presence of bilateral hilar and mediastinal lymphadenopathy due to biopsy-proven nodal replacement by noninfectious noncaseating granulomata. We conclude that foreign matter may operate as a nidus for the formation of granuloma in sarcoidosis and that the presence of polarizable matter in a sarcoid granuloma does not rule out sarcoidosis.

Aluminum↗
PubMed1994

Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers.

We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a decreased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11.2-13.3. The fetus was diagnosed as homozygous for the deleterious SMA gene.

Adult↗
PubMed1994

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).

We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamide gels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (F1)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.

Alleles↗
PubMed1994

Atypical fibroxanthoma with osteoclast-like giant cells.

Atypical fibroxanthoma has a wide spectrum of histological appearances. A variant recently described is atypical fibroxanthoma with osteoclast-like giant cells. One case of this rare tumour is described. The tumour arose on the forehead of an 87-year-old woman in the form of a subepidermal nodule. The lesion was incompletely excised and recurred 6 months later without showing any characteristics of aggression. Six months after the second operation the patient was well and showed no signs of tumour recurrence. Immunohistological findings showed a "fibrohistiocytic" profile and were similar to those observed in other lesions rich in osteoclast-like giant cells. Flow cytometry revealed the diploid nature of the primary and the recurrent tumour. Atypical fibroxanthoma with osteoclast-like giant cells is a new variant of atypical fibroxanthoma that must be recognized by pathologists, since it can be confused with other benign and malignant tumours with a high proportion of multinucleate osteoclast-like giant cells.

Aged↗
PubMed1993

Acute leukemias of different lineages have similar MLL gene fusions encoding related chimeric proteins resulting from chromosomal translocation.

The MLL gene, on human chromosome 11q23, undergoes chromosomal translocation in acute leukemias, resulting in gene fusion with AF4 (chromosome 4) and ENL (chromosome 19). We report here translocation of MLL with nine different chromosomes and two paracentric chromosome 11 deletions in early B cell, B- or T-cell lineage, or nonlymphocytic acute leukemias. The mRNA translocation junction from 22 t(4;11) patients, including six adult leukemias, and nine t(11;19) tumors reveals a remarkable conservation of breakpoints within MLL, AF4, or ENL genes, irrespective of tumor phenotype. Typically, the breakpoints are upstream of the zinc-finger region of MLL, and deletion of this region can accompany translocation, supporting the der(11) chromosome as the important component in leukemogenesis. Partial sequence of a fusion between MLL and the AFX1 gene from chromosome X shows the latter to be rich in Ser/Pro codons, like the ENL mRNA. These data suggest that the heterogeneous 11q23 abnormalities might cause attachment of Ser/Pro-rich segments to the NH2 terminus of MLL, lacking the zinc-finger region, and that translocations occur in early hematopoietic cells, before commitment to distinct lineages.

Acute Disease↗