ABSTRACT
The difference between demand and supply has led transplant organizations to look for marginal donors, including those who could transmit infections to their recipients. This potential risk must be thoroughly evaluated to optimize the use of such organs without increasing the incidence of graft dysfunction and the morbidity and mortality of the recipient. This article aims to provide a general and up-to-date overview of this issue.
Subject(s)
Infection Control/methods , Organ Transplantation/adverse effects , Surgical Wound Infection/prevention & control , Tissue Donors , Tissue and Organ Procurement , Humans , Incidence , Surgical Wound Infection/epidemiologyABSTRACT
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease caused by mutations in the NF1 gene. The mutation rate of NF1 is one of the highest known for human genes and the mutational analysis has revealed a wide variety of changes, a significant proportion of which affect normal pre-mRNA splicing. Here, we describe two truncating mutations in exon 37 of NF1, the recurrent c.6792C>A and the novel c.6799C>T change, that occur in cis and segregate with NF1 in a large family. The double mutation induces defective splicing of exon 37 and thus, we performed quantitative comparisons of transcripts harboring single (c.6792C>G or c.6792C>A) and double (c.6792C>A and c.6799C>T) mutations to assess their effects on exon 37 splicing. Skipping of exon 37 was greater and there were fewer mutant full-length transcripts in samples with the double mutation than in those carrying single mutations. Thus, the combination of the c.6792C>A and c.6799C>T mutations augmented exon 37 skipping. These findings suggest that, in addition to the previously described exonic splicing enhancer in the c.6791_6795 region, c.6799 lies within an additional regulatory element that influences the splicing of exon 37.
Subject(s)
Alleles , Codon, Nonsense , Exons , Genes, Neurofibromatosis 1 , Neurofibromatosis 1/genetics , Alternative Splicing , DNA Mutational Analysis , Humans , Pedigree , Transcription, GeneticABSTRACT
No disponible
Subject(s)
Aged , Female , Humans , Splenic Diseases , Antidepressive Agents, Second-Generation , Cyclohexanols , HematomaABSTRACT
No disponible
Subject(s)
Humans , Antigens, CD , Pneumococcal Infections , Pneumococcal Vaccines , HIV Seropositivity , Immunoglobulin GABSTRACT
Campylobacter spp is not usual as the aetiology agent for spontaneous bacterial peritonitis. We report two cases of spontaneous peritonitis due to Campylobacter jejuni diagnosed in our hospital and review the literature trough MEDLINE data base. We found 13 cases of spontaneous peritonitis in which Campylobacter sp was isolated from ascitic fluid. The main characteristics of these cases were: the existence of an evolved alcoholic cirrhosis, a high positivity of blood cultures as well as a high relapse index and letality.
Subject(s)
Campylobacter Infections/complications , Liver Cirrhosis/complications , Peritonitis/microbiology , Humans , Male , Middle AgedABSTRACT
Los microorganismos del género Campylobacter son infrecuentes como agente etiológico de la peritonitis bacteriana espontánea (PBE).Presentamos 2 casos de PBE por Campylobacter jejuni diagnosticados en nuestro hospital junto a una revisión de la literatura mediante el sistema MEDLINE. En total encontramos 13 casos de PBE en los que se aisló Campylobacter sp en el líquido ascítico. Las principales características de estos casos fueron: la existencia de una cirrosis hepática evolucionada de etiología enólica, una alta positividad de los hemocultivos así como un índice de recidiva y una letalidad elevada. (AU)
Subject(s)
Middle Aged , Male , Humans , Peritonitis , Campylobacter Infections , Liver CirrhosisSubject(s)
Adrenal Gland Neoplasms/diagnosis , Adrenal Insufficiency/diagnosis , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Adrenal Gland Neoplasms/complications , Adrenal Insufficiency/complications , Fever/etiology , Humans , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Male , Middle AgedABSTRACT
BACKGROUND: Anticoagulant therapy reduces the risk of stroke among patients with chronic atrial fibrillation. The objective of this study was to evaluate the use of anticoagulant therapy and to analyze the factors associated with the indication of anticoagulants in patients with chronic atrial fibrillation. PATIENTS AND METHODS: Prospective study of all patients with chronic atrial fibrillation admitted to our Department of Internal Medicine from February 1997 to September 1998. From each patient data related to the cause of atrial fibrillation, other associated vascular risk factors, use of anticoagulant and/or antiplatelet agents and contraindication to anticoagulants were recorded. RESULTS: A total of 170 patients with chronic atrial fibrillation were studied. The mean age of patients was 77 years (range: 49-94). One hundred and four patients (61%) were older than 75 years. Atrial fibrillation was the main cause for admission only in 11 patients (6.5%). One hundred and sixty-seven patients (98%) had indication for receiving anticoagulant therapy; however, it was indicated in only 67 patients (39%). In other 68 patients (40%), antiplatelet agents were used. Patients over 75 years received anticoagulants less frequently (p < 0.0001). Factors associated with the prescription of anticoagulants in the bivariate analysis included: diabetes mellitus (p = 0.046), high cholesterol level (p = 0.023), age < or = 75 years old (p < 0.0001), history of previous embolic events (p = 0.001) and valvular atrial fibrillation (p < 0.0001). The multivariate analysis showed that only two factors were indeed associated with the prescription of anticoagulants: age < or = 75 years (OR: 6.15) and valvular atrial fibrillation (OR: 4.24). CONCLUSIONS: Anticoagulant therapy is underused in patients with chronic atrial fibrillation, particularly in elderly patients.
