Biomedical subjects
Publications and source records attributed to D Espinós.
We describe the first case reported in the literature of liver abscess due to Lactococcus lactis cremoris in an immunocompetent adult patient. The patient was treated with catheter drainage and antibiotics, which resulted in improvement and resolution.
This work compiles the results of our research on alpha- and beta-thalassemias, and includes a literature review of the molecular genetics of alpha- and beta-thalassemias in Spain. We studied 1,564 subjects with thalassemia (294 with beta-thalassemia and 1,264 with alpha-thalassemia) by molecular biology techniques. In relation to beta-thalassemia, a total of 15 different mutations were characterized in a study of 308 chromosomes belonging to 294 unrelated subjects. Eleven were homozygotes (22 alleles), three compound heterozygotes (6 alleles), and the remaining 280 were heterozygotes (280 alleles). A total of 86.6% of the alleles identified can be grouped into five different mutations [IVS-I-1 (G-->A), IVS-I-6 (T-->C), IVS-I-110 (G-->A), codon 39 (C-->T), codons 8/9 (+G)]. In 14 subjects (4.5%), all heterozygotes, it was not possible to identify the alteration responsible for the beta-thalassemia. For alpha-thalassemia, 911 subjects showed heterozygous alpha(+)-thalassemia (872 with -3.7 kb; 14 with -4.2 kb; two with the deletion of 3.5 kb of DNA, and 23 with nondeletional alpha-thalassemia). Two hundred and thirty-three subjects had homozygous alpha(+)-thalassemia (223 for -alpha(-3.7)/-alpha(-3.7)); one for -alpha(-4.2)/-alpha(-4.2); six for -alpha(-3.7)/-alpha(-4.2); one for -alpha(-3.5)/-alpha(-3.7); one for alphaalpha(Nco)/alphaalpha(Nco); one for alpha(HPh)/alpha(Hph)). One hundred patients presented with heterozygous alpha(0)-thalassemia (18 of whom were progenitors of patients with Hb H disease). The alpha(0) determinant was found in 20 patients with Hb H disease associated with -alpha(-3.7). From the DNA analysis were identified the - -(MED), - -(SEA), - -(SPAN) deletions and the - -(MA) mutations; in three cases, a break that affects the distal portion of the short arm of chromosome 16; one of these was associated with the ATR-16 (alpha-thal with mental retardation) syndrome. Triplication of the alpha genes (alphaalphaalpha(-3.7)/alphaalpha) was found in 25 subjects, 16 of whom were associated with a heterozygous beta-thalassemia. Only one patient was homozygous for the triplication of alpha genes (alphaalphaalpha(-3.7)/alphaalphaalpha(-3.7)) that was associated with a heterozygous beta-thalassemia. In the Mediterranean region preventive programs for thalassemia, based on the detection of heterozygote carriers and genetic advice, are not sufficient to reduce the incidence of newborns with major thalassemia. Prenatal diagnosis of thalassemias has given a new dimension to the prevention of these, but in order to implement this, a knowledge of the mutations and the incidence of these, is essential. This study, therefore, aims to give a general picture of the molecular genetics of thalassemia and its geographical distribution in our area.
BACKGROUND: It has been proven that cytokeratins (CKs) are useful tumor markers for the follow-up, treatment monitoring and prognosis evaluation of lung cancer and among these, tissue polypeptide antigen (TPA) plays an important role. Nevertheless, only a small number of studies have been reported about their diagnostic capacity. Bronchoalveolar lavage (BAL) can be divided into two fractions: bronchiolar (BF) and alveolar (AF). For the above reasons, our aims were (1) to analyze the diagnostic usefulness of TPA in the BAL of lung cancer patients and (2) to observe if, in lung cancer patients, TPA levels in the two BAL fractions are different. This should mean that the study of tumor markers in the BAL should be carried out in both fractions to increase their diagnostic capacity. METHODS: We studied 289 BALs divided into two phases. In phase I, TPA was analyzed in the BAL of six groups of subjects (healthy persons, chronic bronchitis, asthma, respiratory infections, diffuse interstitial pulmonary diseases and lung cancer). In phase II, TPA was studied in both BAL fractions of a group of patients with lung cancer. RESULTS: We observed that TPA levels were significantly higher in the BAL of patients with bronchogenic neoplasias. In these patients, TPA was increased in the BF of the lavage in relation to the AF. In smoker patients with pulmonary carcinomas, TPA was higher in the AF of the BAL than in the lavage of non-smokers. This did not occur in the BF. We found no relation between the TPA concentrations and cancer histology. CONCLUSIONS: We believe that TPA is a useful tumor marker with diagnostic capacity and this capacity is increased when it is studied in the two BAL fractions. Smoking habit may play a role in the secretion of tumor markers by the tumor cells.
BACKGROUND: The Philadelphia chromosome (Ph') is originated by the t(9;22) which determines the rearrangement BCR/ABL. This rearrangement has been associated with an unfavourable prognosis in patients diagnosed with adult acute lymphoblastic leukaemia (ALL). PATIENTS AND METHODS: The BCR/ABL gene (p210 and p190) was prospectively studied by nested RT-PCR in 17 adult patients diagnosed with ALL BCR/ABL-positive cases were monitored by RT-PCR and cytogenetic techniques over the treatment period (LAL-93 AR protocol). RESULTS: BCR/ABL mRNA was detected in 8 out the 17 patients studied (47%). The Ph' chromosome was detected in 4 cases. Follow-up was completed in 6 out of the 8 BCR/ABL positive cases. PCR only became negative in one patient. The 5 patients with persistently positive BCR/ABL relapsed, whereas the case which became negative was still in complete remission after 24 months follow-up. In 3 out of the 4 Ph' positive patients, the karyotype was normal after induction therapy. CONCLUSIONS: This study clearly demonstrates the usefulness of molecular analysis in the diagnosis and follow-up of ALL compared with conventional cytogenetic techniques. The importance of molecular analysis to assess the efficacy of the treatment used has been emphasized and the poor evolution of BCR/ABL-positive patients has been confirmed.
The basal peroxide production and the oxidative burst induced by phagocytosis of opsonized E. coli was studied by flow cytometry using dihydrorhodamine 123. The human leukocytes were incubated in the absence and presence of N-acetylcysteine. The oxidative response to the phagocytosis of bacteria differed among cell populations. Thus, 90% of granulocytes and 50% of monocytes showed an oxidative burst in response to opsonized bacteria while less than 1% of lymphocytes showed a fluorescence signal. N-Acetylcysteine (4.7, 9.5, 19, 38 or 76 mM) produced a dose-dependent inhibition of the oxidative response to phagocytosis in the three cellular populations reaching almost complete inhibition for 76 mM. This protective effect of N-acetylcysteine against oxidative stress in leukocytes was obtained without cytotoxicity (assessed by flow cytometry with staining with propidium iodide) or changes in the pH of the medium. These results give further support to the antioxidant effect of N-acetylcysteine in human peripheral blood cells.
In the last decade, several cases of patients with esophageal varices treated with endoscopic sclerotherapy who posteriorly developed carcinoma of the gastroesophageal junction have been reported in the literature. This may only be a coincidence, although the existence of an undemonstrated relationship direct cannot be discarded. The case of a patient diagnosed with alcoholic liver cirrhosis with portal hypertension and esophageal varices who underwent several sessions of endoscopic sclerotherapy with ethanolamine oleate is presented. During follow-up dysphagia was observed due to adenocarcinoma of the lower third of the esophagus. Carcinoma of the esophagus should be taken into account as a rare diagnostic possibility in a patient with dysphagia of recent appearance with a history of esophageal varix sclerotherapy.
Chronic myelogenous leukemia (CML) is a myelo-proliferative disorder which, after a chronic phase which lasts an average of 3 years, evolves into an acute disease which is resistant to chemotherapy. Nevertheless, a few studies have reported cases in which partial or complete hematologic, cytogenetic and/or molecular remission of the disease were observed either spontaneously or after non intensive chemotherapy, with or without medullar aplasia. Some of these patients later relapsed into a blast crisis. We report a case of CML with clinical and hematologic remission for 19 years after two cycles of busulphan not causing medullar aplasia, negative for the BCR/ABL gene by Southern blot but with the gene's mRNA detectable by hot start nested RT-PCR.
We describe the case of a 68 years-old who developed 2 attacks of acute pancreatitis during the treatment with isoniazid used as a chemoprophylactic. There was not recurrence of symptoms for the last year after isoniazid was withdrawn. This report suggest that isoniazid can induce acute pancreatitis.
OBJECTIVE: To value the usefulness of the bcl-2 rearrangement analysis by PCR in the study of the minimal residual disease in patients with follicular non-Hodgkin's B cell lymphoma (NHL) submitted to peripheral blood stem-cell transplantation (PSCT). PATIENTS AND METHOD: The study was done on 12 patients diagnosed with low grade B-cell NHL, who were entered in a program of myeloablative chemotherapy followed by rescue with progenitor cells obtained from peripheral blood. At the time of peripheral stem-cells (PSC) harvesting, 8 patients did not present medullar infiltration and four of them presented medullar infiltration according to conventional histological criteria. The study was done on DNA from samples taken from bone marrow and cells taken in the apheresis. The DNA samples were studied by PCR to determine the existence of the bcl-2 rearrangement. RESULTS: At the time of apheresis, 8 patients did not present medullar infiltration according to conventional histological criteria but 7 of them presented bcl-2/JH rearrangement. Most patients studied (10 out of 12) showed bcl-2/JH rearrangement (minimal residual disease) in apheresis products. However, in 2 of these 10 patients, such rearrangement was negative in the bone marrow samples obtained 3-6 and 12 months after transplantation. CONCLUSION: In some patients with follicular NHL submitted to PSCT, the bcl-2/JH rearrangement had negativized after transplantation, this implies that the tumoral cells present in apheresis products lost their clonogenic capacity and were not able to subsist in vivo and that the myeloablative polychemotherapy schedules are able to eradicate the t(14; 18) translocation bearing cells or, at least, to decrease their number in bone marrow to levels below those of PCR detection.
A Spanish family with alpha-thalassemia-1 (alpha-Thal-1), deletion (--MA), is described. In addition to the loss of 22 kb of DNA with a deletion of the alpha 1, alpha 2, psi alpha 2, and psi zeta 1 genes, a triplication of the zeta gene cluster in "cis" is produced. The structure of this triplication is formed by the psi zeta 1 gene, the interzeta region, and, possibly, the insertion of the psi alpha 2 fragment.
We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.
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We have identified the case of a 9-months-old girl with heterozygotic thalassemia and triplication of alpha genes of globin (alpha alpha alpha 3.7). Molecular defect of thalassemia was a mutation without sense of 39 codon. Patient's phenotype was an intermediate thalassemia with moderate splenomegaly and marked unbalance on the globin chains. This is the first case of intermediate thalassemia, through this mechanism, described in Spain.
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The appearing of splenic complications in the evolution of acute or chronic pancreatitis is a known fact, even though it is not that frequent. A case of splenic rupture happens during an acute bout of chronic pancreatitis. The possible pathogenic mechanisms implied are analysed as well as the forms of presentation and the approximation to diagnosis. The great difficulty in the diagnosis is determined by the scarce specificity of the clinical and biochemical manifestations. Therefore, it is called the attention upon the eventuality of this complication and the therapeutic attitudes which should be adopted.
A case is presented of a female patient initially diagnosed of acute lymphoblastic leukemia who was treated achieving complete remission. Twenty six months later and while in remission of her leukemia, she presented an abdominal mass the histological study of which showed infiltration due to Hodgkin disease. She was treated with chemotherapy type MOPP and complete remission was achieved. Four months after completing treatment she presented pancytopenia in peripheral blood. A bone marrow study was performed observing a blastoid infiltration with morphological and cytochemical characteristics of acute non-lymphoblastic M-5 leukemia. The possible common origin of the three clinical pictures is discussed given the recent findings regarding the origin of Reed-Sternberg cell.
Haematological and biochemical aspects of a new family with heterozygous Hb O Padova [alpha 30(B11) Glu----Lys] is described. This variant has been found on a screening programme of abnormal haemoglobin in cord blood. It was separated by cellulose acetate, isoelectric focusing, citrate agar, DEAE-cellulose chromatography and by cation exchange high-performance liquid chromatography. The heat stability and the functional properties were found to be normal. This is the third family with Hb O Padova reported, all from the Mediterranean region.