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J Lloreta Trull

Publications and source records attributed to J Lloreta Trull.

11 recordsLinked to original sources
PubMed2006

[Development of tissue microarray technology (TMA) for immunohistochemical study of molecular expression profiling in prostate cancer (part 1)].

Tissue microarray technology (TMA) is nowadays considered as a powerful tool for the high-throughput analysis of molecular expression pattern of cancer. In this manuscript we show the experience of both groups in the design and building of a TMA for the study of protein expression pattern of prostatecancer as well as a summary of the technical points to analyze the results obtained with this technology. Today, different data generated by the immunostained tissues are studied to achieve a molecular profile in different clinical scenarios.

Equipment Design↗
PubMed2006

[Immunohistochemical expression of p53, p21, p16, and cyclin D1 in superficial bladder cancer. A tissue microarray study].

INTRODUCTION AND OBJECTIVES: To retrospectively assess the relationship between immunohistochemical expression of p53, p21, p16, and cyclin D1, with recurrence, progression and survival in superficial bladder cancer. METHODS: 163 patients undergoing transurethral resection for superficial bladder cancer between February 1995 and March 2004. Tumor samples were included in a tissue microarray support that was serially sectioned for immunohistochemical staining. Grade and stage associations for each marker were evaluated by the Chi-square test. Assessment of the relationship with recurrence, progression, and survival Kaplan-Meier curves and log-rank test were used. RESULTS: There were no statistically significant differences in marker expression depending on tumor grade and stage, with the exception of Cyclin D1, that was significantly different depending on tumor stage (p=0.030). p21 expression was related to tumor recurrence (p=0.035), progression (p=0.008) and survival (p=0.034). p16 expression was also related to recurrence (p=0.048) and survival (p=0.047), but not to tumor progression (p=0.116). p53 and Cyclin D1 were not statistically associated with tumor recurrence, progression or survival. CONCLUSIONS: In our experience, only p16 and p21 may be useful in the management of superficial bladder tumors, as they are predictors of recurrence and survival in Ta and T1 patients.

Adult↗
PubMed2004

[Histopathologic validation of the tissue-microarray technology of urothelial cancer. Our experience].

INTRODUCTION: The array technology offers: a big advance to clinic and basic investigator, it provides a variety of technics (immunohistochemistry, FISH, proteomics) to understand the molecular mechanisms of cancer. It offers scale economy in reagents versus the conventional methods. Array most be ratified because the sample is so reduced. MATERIAL AND METHODS: 52 consecutive cases have been chosen from paraffin blocks of bladder and ureteral cancer which are 5-7 years old, a tissue array has been made; disks have been arranged in lines and columns, in an aleatory way, in order to guide it's reading. It has been evaluated by a pathologist with any relation to specimen selection. RESULTS: 87 sheets ha been obtained. Number 1 has been dyed with HE. Has been discrepancy in 27% of sample's stage. Has not been a discrepancy in histopathologic diagnostic. There is no sample's representation in 11 points (17%). DISCUSSION: Our results offer good results in sample's validation. The sample's antigenicity of tissue is conserved. Array sample's represent a 97%, similarly to all unit of conventional sections of the specimen.

Humans↗
PubMed2004

[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene].

INTRODUCTION: Autosomal dominant oculopharyngeal muscular dystrophy (OPMD), with late onset due to ptosis and/or dysphagia, is caused by short (GCG)8-13 triplet-repeat expansions in the polyadenylation binding protein 2 (PABP2) gene, which is localized in chromosome 14q11. The severity of the dominant OPMD as well as the number of expansions that cause the disease are variable. (GCG)9 is mentioned as the most frequent and the genotype/phenotype has still not been well-determined. OBJECTIVE: To describe the type of expansions (GCG)n found in Spanish families with OPMD, establishing if there is variability of them and the possible geno-phenotypical correlations. METHODS: Clinicopathological and molecular studies have been performed in 15 consecutive patients, belonging to seven Spanish families with OPMD. The muscular biopsy study under electronmicroscopy shows intranuclear inclusions (INIs) in all the examined patients (one patient per family). The genetic findings confirm the cause of the disease in all the affected members and in one clinically asymptomatic member of one recently examined family: three families (six, one and one studied members, respectively) present the (GCG)9 expansion, two families (one studied member each one) present the (GCG)10 expansion and two families (one and four studied members respectively) present the (GCG)11 expansion. In these 15 patients with a short GCG expansion causing OPMD, clinical tests for OPMD and a follow-up study of their clinical course have been carefully assessed: in patients with the (GCG)9 expansion major abnormalities appeared in extrinsic ocular mobility and more precocious presentation of limb girld (lumbopelvic preferentially) weakness leading to a great disability before the seventh decade of life under the seventies in some patients and sometimes leading to death. In patients with (GCG)10 and (GCG)11 expansions, eye movements are always preserved and the limb girld muscles weakness did not appear before the seventh decade. No correlation seems to exist between age of onset of the ptosis or dysphagia and the different (GCG)n expansions and the surgical treatment of ptosis, performed in eight patients, showed good results independently of the (GCG)n mutation. CONCLUSIONS: Although further clinical and genetic studies are necessary to establish a strict genotype/phenotype correlation in OPMD, we concluded that the (GCG)9 expansion involve more severe phenotypes than those related to the (GCG)10 or (GCG)11 expansions. Therefore, genetic testing could benefit prognosis in asymptomatic individuals.

Adult↗
PubMed2002

[Nephrectomy of a giant hypernephroma (5,150 g)].

We report a giant renal adenocarcinoma (5150 g weight) excised in a 52 years old male. He presented a severe clinical symptoms: serious haematuria, fever (40 degrees C), left flank pain, abdominal discomfort and weight loss (10 kg). The patient underwent left renal artery embolization because of severe anemia (blood transfusion: 4 uu) but haematuria didn't decrease; that's why radical surgery was advised. Until our knowledge this case is the largest removed kidney adenocarcinoma published in the world literature (Medline 1966-2001).

Abdominal Pain↗
PubMed2001

[Primary ciliary dyskinesia. report of three cases].

Primary ciliary dyskinesia is an autosomal recessive disorder, characterized by total or partial dysfunction of the ciliary or flagellated cells. It is clinically expressed by sinusitis and/or bronchiectasis occasionally associated with sterility in males. We report three cases of immotile cilia syndrome with chronic respiratory symptoms (sinusitis, bronchitis, otitis). The syndrome was associated with bronchiectasis in two cases and by half lobe atelectasis in the third. Diagnosis was established by ultrastructural study of samples from the nasal mucosa, in which the absence of the dynein arms and/or the anomalous disposition of the microtubules was observed. In all three patients great clinical improvement and symptom control were achieved, thereby improving the prognosis of these children. Although the syndrome cannot be cured, as in other chronic pneumopathies, early diagnosis and appropriate treatment can considerably reduce morbidity.

Bronchiectasis↗
PubMed2001

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].

BACKGROUND: Desmin-related myopathy is a familial myopathy and cardiomyopathy. Three subgroups have been outlined, an autosomal dominant (AD) granulofilamentous type with cardiomyopathy, an AD cytoplasmic/spheroid inclusion body type and an autosomic recessive Mallory body-like inclusion type. Recently, in one family belonging to the first group it has been identified a mutation within a gene coding for a chaperone protein, alphabeta-crystallin (CRYAB gene). OBJECTIVE: To describe a Spanish family with a desmin-related myopathy, an AD granulofilamentous type with cardiomyopathy, with a molecular study that does not express any point mutation in the CRYAB gene. PATIENTS, METHODS AND RESULTS: This report concerns a family from southern Spain in which 2 sisters (37 and 44 and 36 years old respectively) present an involvement of skeletal (distal more than proximal) and velo-pharyngeal muscles with onset at the third decade of life and with a rather severe progression, leading soon to bilateral foot drops. The mode of transmission is autosomal dominant. Two other members, the mother and one brother _the latter with hypertrophic cardiomyopathy, atrioventricular block and severe heart failure_, have already died. The electrophysiological study carried out in the sisters shows myogenic patterns with abundant spontaneous activity but not genuine myotonic discharges. Muscle biopsy, also purchased in both sisters, shows myopathic changes, a few rimmed vacuoles in one of them, and several "rubbed-out" fibers or fibers "effacées" visible within the intramyofibrilary network on the enzymatic stainings. The ultrastructural findings in both biopsies reveal a similar pattern of structural damage: an intrasarcoplasmic (specially subsarcolemmal) accumulation of an electro-dense filamentous material arising from the Z-bands and a focal disruption of the myofibrils. Immunohistochemically the subsarcolemmal material stained positively for the intermediate filament protein desmin but other proteins as ubiquitin, tropomyosine and actin were found overexpressed. Genetic studies have excluded myotonic dystrophy, any point mutation in the CRYAB gene, and different markers failled to express linkage to any loci on chromosome 12. The possible mutations in desmin gene are to be studied. CONCLUSION: The distinct intrafamilial phenotype observed in this family confirms the multisystemic character of the desmin-related myopathyies. The genetic results also support the genetic heterogeneity of these myopathies and reinforce the concept that mutations in the desmin gene must be investigated as a cause of the disease.

Actin Cytoskeleton↗
PubMed2001

[Association between heroin consumption in pregnancy and structural abnormalities of the respiratory cilia in newborn infants].

OBJECTIVE: To describe structural abnormalities of the respiratory cilia in newborn infants whose mothers consumed heroin during pregnancy. PATIENTS AND METHODS: The medical records of 295 newborn infants whose mothers consumed heroin either throughout or at some time during pregnancy and who were cared for in Hospital del Mar in Barcelona (Spain) between January 1982 and December 1997 were reviewed. Seven infants with neonatal respiratory distress after the withdrawal syndrome period were selected. Diagnoses were established by electron microscopy of nasal mucosa samples. RESULTS: All seven newborns with prolonged neonatal respiratory distress had ultrastructural abnormalities of the ciliary axoneme similar to those of primary ciliary dyskinesia or immotile cilia syndrome. The incidence of this alteration in this series was higher than that in the general population. CONCLUSIONS: These data suggest a possible association between ultrastructural abnormalities of the ciliary axoneme and prolonged neonatal respiratory distress in the infants of heroin-consuming mothers.

Ciliary Motility Disorders↗
PubMed1994

Pathology of the elastic tissue of the skin in Costello syndrome. An image analysis study using mathematical morphology.

Only nine cases of Costello syndrome have been described so far. No definitive pathologic abnormalities have been found on skin biopsies. We undertook a quantitative study of the elastic tissue of the skin in one case of Costello syndrome in order to obtain objective scores of area, fragmentation, branching and texture of the elastic tissue, comparing it to cutis laxa syndrome, Ehlers-Danlos syndrome and normal skin. The results showed an increasing fragmentation score and loss of anastomosing points in elastic tissue in Costello syndrome and cutis laxa syndrome in relation to normal skin. Thus, we conclude that image analysis revealed, in Costello syndrome, a state of disorder akin to that of cutis laxa syndrome. Therefore, both syndromes might have a common pathogenesis as far as elastic tissue is concerned. However, other cases should be analyzed to validate our conclusions on statistical grounds.

Child↗
PubMed1990

[Amyotrophic lateral sclerosis syndrome and hyperthyroidism. Cure with antithyroid drugs].

We report the case of a 62-year old man presenting with generalized muscular weakness, amyotrophy, dysarthria and dysphagia. Neurological examination showed bilateral pyramidal signs and lingual fasciculations. The clinical diagnosis was amyotrophic lateral sclerosis, since only shivers and weight loss pointed to hyperthyroidism. However, after several months the patient developed typical manifestations of hyperthyroidism. After treatment of hyperthyroidism, the neurological symptoms disappeared. Although this association is extremely rare, one must have in mind the possibility of thyroid dysfunction when studying patients with amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis↗