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Biomedical subjects

C Cervera

Publications and source records attributed to C Cervera.

At least 19 recordsLinked to original sources
PubMed2005

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons. It is caused by mutations in the survival motor neuron gene 1 (SMN1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all the patients, is unable to prevent the disease. An SMN2 dosage method was applied to 45 patients with the three SMA types (I-III) and to four pairs of siblings with chronic SMA (II-III) and different phenotypes. Our results confirm that the SMN2 copy number plays a key role in predicting acute or chronic SMA. However, siblings with different SMA phenotypes show an identical SMN2 copy number and identical markers, indicating that the genetic background around the SMA locus is insufficient to account for the intrafamilial variability. In our results, age of onset appears to be the most important predictor of disease severity in affected members of the same family. Given that SMN2 is regarded as a target for potential pharmacological therapies in SMA, the identification of genetic factors other than the SMN genes is necessary to better understand the pathogenesis of the disease in order to implement additional therapeutic approaches.

Adult↗
PubMed2005

Long-term results of tacrolimus in cyclosporine- and prednisone-dependent myasthenia gravis.

Seventy-nine patients with cyclosporine- and prednisone-dependent myasthenia gravis (MG) after thymectomy received tacrolimus for a mean of 2.5 +/- 0.8 years. Prednisone was withdrawn in all but two patients. Anti-acetylcholine antibodies and MG score for disease severity decreased significantly and muscular strength increased by 39%. Complete stable remission was achieved in 5% of patients and pharmacologic remission in 87.3%. All patients resumed full activities of daily living.

Adolescent↗
PubMed2005

Bacteremia and septic shock after solid-organ transplantation.

BACKGROUND: Bacteremia and septic shock remain important causes of morbidity and mortality after solid-organ transplantation. The aim of this study was to assess the characteristics and risk factors for mortality among patients with bloodstream infections and shock. METHODS: From January 1991 to December 2000, all episodes of bloodstream infection were prospectively examined, considering bacteremia or fungemia as significant according to the CDC criteria. Septic shock was diagnosed in a patient with systemic inflammatory response syndrome and persistent dysfunction of at least one organ caused by hypoperfusion despite hemodynamic support. RESULTS: There were 466 episodes of bacteremia in 382 patients, with 66 of them developing septic shock. Risk factors for developing shock were age >50 (P = .006), liver transplant (P = .029), nosocomial infection (P = .034), pulmonary focus (P = .0001), P. aeruginosa infection (P = .001), and polymicrobial etiology (P = .039). On multivariate analysis, only age, nosocomial infection, and pulmonary source were significant. Among 66 shock patients, bacteremia was due to gram-negative bacteria in 53%, gram-positive bacteria in 24%, fungal in 7.5%, and polymicrobial in 12% of patients. The most frequent source was the lung (26%). Empiric antimicrobial therapy was correctly chosen in 79%; however, 36 patients died (54%), including 27 despite correct therapy. Urinary tract infections had less mortality than other foci. CONCLUSIONS: Risk factors for developing septic shock in bacteremia were age more than 50 years, nosocomial acquisition, and pulmonary focus. Despite adequate empiric antibiotic therapy, the mortality remained high.

Bacteremia↗
PubMed2005

Invasive pulmonary aspergillosis in solid organ and bone marrow transplant recipients.

BACKGROUND: Invasive pulmonary aspergillosis (IPA) remains a major cause of mortality in transplant recipients. New strategies in therapy are needed. METHODS: We prospectively followed all solid organ and bone marrow transplant recipients from January 1998 to January 2003 who showed pulmonary infiltrates. We retrospectively analyzed all of the patients diagnosed as having IPA. Clinical and epidemiological data were collected. Influence of new treatment strategies on survival was also analyzed. RESULTS: Thirty-one cases of API were found: 8 definite, 18 probable, 5 possible among recipients of liver (11), bone marrow (9), kidney (7), kidney-pancreas (3), and heart (1) transplants. Five patients (16%) were previously receiving antifungal prophylaxis. The most common symptoms were fever (74%) and dyspnea and dry cough (48%). Six cases (19%) showed dissemination to extrapulmonary sites: central nervous system (CNS) in five and bone in one. The most common radiographic patterns were alveolar infiltrates (58%); the lesions were usually diffuse and bilateral (58%). The most common Aspergillus species identified was A. fumigatus (74%). The test to detect Aspergillus antigen (galactomannan) in serum performed in 13 cases, was positive in eight (61%). The crude mortality rate was 61% (19 of 31), but in patients on mechanical ventilation, it was 94% (OR 88, IC 95%: 7.1-1094), and in patients with CNS involvement, it was 100%. The influence of the different treatment regimens on survival was analyzed in definite and probable cases: Group 1 (12) included patients who received conventional monotherapy and group 2 (12) patients received combination antifungal therapy or liposomal amphotericin B (1-AMB) at high doses. The mortality in group 1 was 83% (10 of 12), and in group 2 it was 42% (5 of 12) (P < 0.05). CONCLUSIONS: The mortality rate of IPA remains high, especially among patients with CNS involvement or those under mechanical ventilation. Combined antifungal therapy or monotherapy with 1-AMB at high doses significantly reduced mortality compared with conventional monotherapy.

Amphotericin B↗
PubMed2005

[Design and performance of a laboratory of olfactory test. Application of a new evaluation system].

BACKGROUND: To study and evaluate the factors that may influence on human olfactory sensibility to pyridine, we designed a specific laboratory with a new olfactory test to perform accurate measurements. METHODS: We have chosen pyridine as the test substance in our laboratory, for its frequent use of it in other studies. The special conditions of our laboratory are designed to allow individuals to access to this substance, controlling the different factors and parameters. With this purpose, we have validated the test and we have settled the reference threshold values with the score of thirty voluntary healthy patients between 20 and 40 years of age. RESULTS: We have used four different concentrations of pyridine to study the different factors of olfactory sensibility. 95% of cases detected the highest pyridine concentration and the remaining concentrations allowed us to know the olfactory sensibility of the studied population and the inferior thresholds. CONCLUSIONS: We have designed, performed and endorsed a laboratory for the study of olfaction. We have determined the sensibility of the studied population to different concentrations of pyridine that can be considered as a reference for further studies.

Adult↗
PubMed2003

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C, a gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, the authors did not detect any defects in filamin C or its protein product.

Aged↗
PubMed2002

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.

The presence of the SMN2 deletion in 124 patients with ALS was investigated. Eleven patients had the homozygous deletion of SMN2 (8.8%) in comparison with 20 of 200 (10%) of the healthy control population. No significant differences in sex, age at onset, initial symptoms, form of inheritance, decline in ventilatory function, or survival time were found between patients with and without the deletion. The hypothesis that SMN2 is a prognostic factor in sporadic or familial ALS was not confirmed in this study.

Adult↗
PubMed2002

Phenotypic variability in a Spanish family with MNGIE.

Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness. In both affected individuals, biochemical defects of thymidine phosphorylase and a pathogenic G-to-A transition mutation at nucleotide 435 in the thymidine phosphorylase gene were identified. The first thymidine phosphorylase mutation identified in Spain showed phenotypic variability at onset.

Adult↗
PubMed2001

[Tumors diagnosed in 65 patients with type I neurofibromatosis].

BACKGROUND: Type 1 neurofibromatosis patients develop malignant neoplasm more frequently than general population. PATIENTS AND METHOD: We have studied 65 patients with neurofibromatosis type 1 because we intend to know the kind of neoplasms that they have presented. RESULTS: 65 patients (48 men and 17 women) fulfilling type 1 neurofibromatosis criteria have been studied. Globally 67 tumors appeared, from which 47 (70%) were benign and 20 (30%) were malignant. Benign tumors included 25 neurofibromas, 11 central nervous system tumors and 11 extraneurological tumors. Malignant tumors accounted for 6 soft tissue sarcomas, 6 carcinomas, 3 malignant CNS tumors and 2 acute lymphoblastic leukemias. CONCLUSION: Presentation of neoplasms is frequent in type 1 neurofibromatosis and constitutes main death and morbility cause.

Aged↗
PubMed2001

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.

BACKGROUND: Fourteen genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified, including five types of autosomal dominant LGMD (AD-LGMD). OBJECTIVE: To describe clinical, histologic, and genetic features of a large Spanish kindred with LGMD and apparent autosomal dominant inheritance spanning five generations. METHOD: The authors examined 61 members of the family; muscle biopsies were performed on five patients. Linkage analysis assessed chromosomal loci associated with other forms of AD-LGMD. RESULTS: A total of 32 individuals had weakness of the pelvic and shoulder girdles. Severity appeared to worsen in successive generations. Muscle biopsy findings were nonspecific and compatible with MD. Linkage analysis to chromosomes 5q31, 1q11-q21, 3p25, 6q23, and 7q demonstrated that this disease is not allelic to LGMD forms 1A, 1B, 1C, 1D, and 1E. CONCLUSIONS: This family has a genetically distinct form of AD-LGMD. The authors are currently performing a genome-wide scan to identify the disease locus.

Adolescent↗
PubMed2001

Bilateral optic nerve atrophy in myotonic dystrophy.

PURPOSE: To document a case of bilateral optic atrophy in a patient with myotonic dystrophy. Myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3. METHODS: Case report, clinical examination, fundus photographs, visual fields, visual evoked potentials, electroretinograms, and genetic studies of a 56-year-old woman clinically diagnosed with myotonic dystrophy. RESULTS: The patient experienced decreased vision consisting of light perception with the right eye and 20/25 with the left. Fundus examination showed bilateral pallor of the optic disks. Intraocular pressure was normal. Visual field testing, visual evoked potentials, and electroretinogram were abnormal. A pathologic CTG expansion in the myotonic dystrophy gene was found. CONCLUSIONS: In a patient with myotonic dystrophy, confirmed with genetic molecular diagnosis, bilateral optic atrophy was present. Optic atrophy should be considered a possible complication of myotonic dystrophy.

3' Untranslated Regions↗
PubMed2001

Pleural fluid myeloperoxidase as a marker of infectious pleural effusions.

Background: The aim of this study was to establish the diagnostic accuracy of neutrophil markers (elastase, lysozyme, myeloperoxidase) found in pleural fluid in differentiating between infectious and non-infectious pleural effusions (PE). Methods: We studied 184 patients over 18 years of age with PE, classified as either infectious (34 complicated parapneumonic, 32 non-complicated parapneumonic, 45 tuberculous) or non-infectious (31 neoplasms and 42 undiagnosed exudates). Polymorphonuclear elastase (PMN-E) was determined using an immunoactivation method and lysozyme using a turbidimetric method. Myeloperoxidase (MPO) was measured by double antibody competitive radioimmunoassay. Receiver operating characteristic (ROC) curves were used to evaluate diagnostic accuracy. Results: Pleural fluid MPO was the biochemical marker that best differentiated between infectious and non-infectious PE. The ROC area under the curve (AUC) for myeloperoxidase was 0.86. MPO values over 550 &mgr;g/l diagnosed infectious PE with a specificity of 90.4% and a sensitivity of 77.4%. After excluding purulent parapneumonic PE, the sensitivity of a pleural MPO value >/=550 &mgr;g/l was 72.6%. Conclusions: Pleural fluid MPO was the marker that best differentiated between infectious and non-infectious PE.

Journal Article↗
PubMed2001

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.

We studied a patient with ptosis, ophthalmoparesis, and exercise intolerance who showed in her muscle biopsy ragged-red fibers and combined defects of the complexes I and IV of the mitochondrial respiratory chain. Molecular analysis revealed a T3273C transition in the mitochondrial DNA tRNA(Leu(UUR)) gene. The mutation was heteroplasmic and very abundant in muscle from the proposita, less abundant in her other tissues studied, and still less abundant in blood from her maternal relatives. Single muscle fiber analysis showed significantly higher levels of mutant genomes in ragged-red fibers than in normal fibers. The T3273C mutation affects a strictly conserved base pair in the anticodon stem and was not found in controls, thus satisfying the accepted criteria for pathogenicity.

Base Sequence↗
PubMed2001

Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene.

BACKGROUND: Some patients presenting with isolated lifelong exercise intolerance and ragged-red fibres, harbour skeletal-muscle restricted mutations in their mitochondrial DNA. AIM: To identify the molecular defect in a patient presenting with lifelong exercise intolerance, ragged-red fibres and deficiencies of complexes III and IV in skeletal muscle. METHODS: The muscle biopsy was studied for activities of the respiratory chain, histochemical stains, and sequencing the tRNA genes of mitochondrial DNA. RESULTS: The patient had a heteroplasmic mutation in the tRNA(Leu (CUN)) gene of mitochondrial DNA (G12334A). Clinical and morphological data as well as restriction fragment length polymorphism (RFLP) and single-fibre polymerase chain reaction (PCR) analyses strongly indicate that this molecular defect is the primary cause of the myopathy. CONCLUSION: Mutations in any mitochondrial gene should be considered in the differential diagnosis of patients with lifelong exercise intolerance, even when the neurological examination is normal.

Adult↗
PubMed2001

[Spastic paraparesias by HTLV-1: early identification of a new case. Review of the Spanish casuistics].

This is a study of the early identification of a new case of tropical spastic paraparesis/HLTV-1-associated myelopathy in a Spanish patient not previously reported on. The patient is 48 years of age, and he has been living in Sierra Leone for the past seventeen years, where he has worked as a surgeon. On first examination, he had been suffering from symptoms of a spastic paraparesis for the previous five months. This diagnosis was confirmed using serological tests (EIA and Western-blot) on the blood and cerebrospinal fluid (CSF). We have studied the cases outlined in medical literature, paying special attention to the time elapsed between the onset of symptoms and the date on which the diagnosis was made.

Humans↗
PubMed2001

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

We report on 54 Spanish patients with McArdle's disease from 40 unrelated families. Molecular analysis revealed that the most common R49X mutation was present in 70% of patients and 55% of alleles. The G204S mutation was less frequent and found in 14.8% of patients and 9% of mutant alleles. The W797R mutation was observed in 16.5% of patients, accounting for 13.7% of mutant alleles. Moreover, 78% of mutant alleles among Spanish patients can be identified by using polymerase chain reaction-restriction fragment length polymorphism analysis for the R49X, G204S, and W797R mutations, which makes noninvasive diagnosis possible through molecular genetic analysis of blood DNA. Six novel mutations were found. Three were missense mutations, E348K, R601W, and A703V; two nonsense mutations, E124X and Q754X; and one single base pair deletion, 533 delA. No clear genotype-phenotype correlation emerges from our study. Most of the mutations of uncharged and solvent inaccessible residues and the truncations must disrupt the basic structure of the protein. The mutations of charged residues would be expected to interfere with internal hydrogen bonding networks, introducing severe incompatible partnering that is caused by poor packing or electrostatic repulsions.

Adolescent↗
PubMed2000

Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations.

Multiple symmetric lipomatosis (MSL) is a rare disorder characterised by large subcutaneous fat masses in some parts of the trunk. Mitochondrial disfunction is common in MSL, but the identity of the adipose cells developing in multiple lipomas is not well known. We determined that brown adipose tissue-specific uncoupling protein-1 (UCP-1) mRNA is expressed in the lipoma of a multiple symmetric lipomatosis patient bearing the 8344 mutation in the tRNALys gene of mitochondrial DNA. UCP1 mRNA was not detected in normal subcutaneous fat from the same patient or in the lipoma of another patient bearing a different mutation in the same tRNALys gene. These findings implicate brown adipose cells as the origin of lipomas in a subset of patients bearing tRNALys mutations in mitochondrial DNA.

Adipose Tissue, Brown↗