Liver abscess caused by Lactococcus lactis cremoris: a new pathogen.

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.

The thalassemia syndromes: molecular characterization in the Spanish population.

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.

A new polymorphim (G->A) in the psizeta1 globin gene.

BACKGROUND AND OBJECTIVES: a-globin cluster polymorphisms are obtained with specific restriction enzymes (Xba I, Eco RI, Sac I, Apa I, Bgl II, etc) that can also have implications for genetic analysis. DESIGN AND AND METHODS: We studied three unrelated patients; one from Argentina, one from Spain and one from Australia but of Polish origin. Genomic DNA was digested with several different restriction enzymes and probes, amplified and sequenced with an ABI Prism 310 sequencer. RESULTS: In the three patients an abnormal 26 kb band appeared when they were studied with restriction enzyme Bgl II and z probe. A fragment of 944 bp was amplified with primers that cover from -280 to +714 bp of the recognition sequence of Bgl II enzyme (AGATCT) localized 5' from pseudogene z1. After digestion of this PCR product with Bgl II, two fragments of 714 and 280 bp were produced in normal controls, whereas in patient #1 the PCR fragment was undigested and in patients 2 and 3 both undigested and digested fragments were observed. Sequencing of the PCR fragment showed that in all three patients it was the same polymorphism (G->A) at nucleotide 153171 of the 16 p sequence found in the Bgl II recognition site that changed to AAATCT. INTERPRETATION AND CONCLUSIONS: We describe a new polymorphism in the yz1 first exon Bgl II restriction site (G->A). The polymorphism is associated in cis with haplotype -a3.7. The fragment obtained by PCR enabled us to corroborate the presence of the polymorphism quickly without having to use complicated sequencing techniques.

An evaluation of tissue polypeptide antigen (TPA) in the two bronchoalveolar lavage fractions of lung cancer patients.

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.

[The relationship between the persistence of the BCR/ABL gene and relapse in adult patients with acute lymphoblastic leukemia]. / Relación entre la persistencia del gen BCR/ABL y la recaída en pacientes adultos con leucemia linfoblástica aguda.

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.

Detection of bcr/abl mRNA in a case of chronic myelogenous leukemia in long-term remission: CML or sensitivity of detection?

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.

Effect of N-acetylcysteine on the oxidative burst induced by phagocytosis of bacteria in human leukocytes.

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.

[Carcinoma of the gastroesophageal junction following variceal sclerosis: more than a coincidence?]. / Carcinoma de la unión gastroesofágica tras esclerosis de varices: algo más que una casualidad?

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.

[Acute pancreatitis induced by isoniazid, a casual association]. / Pancreatitis aguda inducida por isoniacida, una asociación casual.

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.

[PCR study of bcl-2 rearrangement in autologous transplantation of peripheral stem cells in follicular non-Hodgkin's lymphoma]. / Estudio por PCR del reordenamiento bcl-2 en el trasplante autólogo de células progenitoras de sangre periférica en el linfoma no hodgkiniano folicular.

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.

[The diagnosis of sleep apnea syndrome with a portable device. Our experience with 100 cases]. / El diagnóstico del síndrome de apnea del sueño con un equipo portátil. Nuestra experiencia con 100 casos.

UNLABELLED: Portable devices might be an alternative method to diagnose patients suspected for obstructive sleep apnea syndrome (OSAS). We have analized one hundred patients consecutively referred to our especialized out-patient clinic for sleep breathing disorders. We have used a previously validated portable device-Polygraphics CNS-which records thoracoabdominal movement, nasobuccal airflow, ECG, oxymetry, body position, and continuous positive airway pressure (CPAP). Sixty patients showed an apnea/hypopnea index (AHI) > 15. Seven patients showed an AHI > 10f plus symptoms suggestive of OSAS. Two patients had an AHI between 5-10 and very high suspicion for OSAS; a subsequent CPAP treatment showed the disappearance of respiratory events and an evident improvement in oxymetric records. Twenty two patients showed an AHI < 5. Nine patients could not be classified and other diagnostic method were deemed necessary. CONCLUSION: A previously validated cardiorrespiratory portable polygraphic device was useful in most cases for taking diagnostic decisions in OSAS.

Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation).

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.

Chromosomal disorder and neoplastic diseases in a family with inherited fragile 16. Causality or casualty?

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.

Characterization of a new alpha-thalassemia-1 mutation in a Spanish family.

A novel alpha-thalassemia-1 deletion of 14-15.4 kb that removes the alpha-2, alpha-1, theta-1 genes and pseudo-alpha-1 genes, has been detected in a father and 2 of his children from northern Spain.

[The first case of thalassemia intermedia in Spain due to the interaction of 3 alpha genes with beta-thalassemia minor]. / Primer caso de talasemia intermedia descrito en España debido a la interacción de tres genes alpha con beta talasemia minor.

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.