Genetic variations of patients with familial or multiple melanoma in Southern Brazil.

BACKGROUND: Patients with familial melanoma or multiple primary melanoma represent a high-risk population to hereditary melanoma. Mutations in susceptibility genes, such as CDKN2A, CDK4 and MC1R, have been associated with the development of melanoma. OBJECTIVES: The purpose of this study was to determine the genotypic background of patients with familial and/or multiple melanoma in southern Brazil. METHODS: This study analysed 33 cases (5 patients with multiple primary melanoma and 28 patients from families with at least two well documented cases) and 29 controls. Genomic analysis of CDKN2A and CDK4 genes by PCR-SSCP analysis and sequencing and direct sequencing of MC1R were performed in all individuals. RESULTS: No functional mutations in CDKN2A or CDK4 were detected in the 62 individuals. Infrequent variants in polymorphic loci of CDKN2A gene were identified in 15 participants (24.2%) and 24/33 (72.8%) cases and 19/27 (70.4%) controls reported at least one infrequent variant in MC1R (P = 0.372). Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. CONCLUSIONS: These results suggest that in southern Brazilian population, CDKN2A or CDK4 germinal alterations may have a weaker influence than previously thought and environmental risk factors may play a central role in melanoma susceptibility. However, considering the tendency observed for gene MC1R, low-penetrance genes may be a relevant aetiological factor in southern Brazil with fair skin population and high sunlight exposure.

Cost consequence analysis of fondaparinux versus enoxaparin in the prevention of venous thromboembolism after major orthopaedic surgery in Belgium.

Fondaparinux, a selective inhibitor of activated factor X, has been shown to reduce further the risk of venous thromboembolism (VTE) in major orthopaedic surgery compared to the low molecular weight heparin enoxaparin, when both were applied for 7 days after surgery. To compare the expected costs and clinical outcomes of fondaparinux with enoxaparin applied for 7 days after surgery, we conducted a cost-consequence analysis in patients undergoing major orthopaedic surgery, i.e. total hip replacement, total knee replacement and hip fracture repair. Our decision model included endpoints relevant in routine clinical practice and the natural history of VTE over a long term period of 5 years. Costs for prevention, diagnosis and treatment of VTE and its complications were estimated from the Belgian health care payer perspective. Analyses were conducted for different time horizons and for the three indications, separately, and then combined. Overall, our results indicated that the initial investment in fondaparinux (cost per day: 10.39 euros versus 3.74 euros for enoxaparin) was soon compensated by savings due to avoided VTE events, with cost neutrality being achieved after 90 days and further savings being incurred over longer time periods mainly due to avoided post-thrombotic syndromes. These findings were most pronounced in patients undergoing hip fracture repair. Sensitivity analyses showed these findings to be robust for the three indications separately, and combined. We conclude that our analysis of health and economic consequences over a long term period, demonstrates the value for money of fondaparinux versus enoxaparin for the prevention of VTE events after total hip replacement, total knee replacement and hip fracture repair.

Interpretation of Doppler signals.

Combining color and spectral data, Doppler signal provides physiologic information about arterial and venous hemodynamics and anatomic information about vessel walls and diameter. Adequate sampling of Doppler signal is required to avoid pitfalls in interpreting spectral changes or color images. The level of information contained in spectral waveforms is high, compared with color display in terms of velocity profile alterations, as in stenoses, and cyclic changes of systolo-diastolic velocities. Therefore, integration of information from both types of Doppler signal representations is mandatory in clinical practice.

[Subglottic pleomorphic adenoma]. / Adenoma pleomorfo subglótico.

Pleomorphic adenoma is the most common tumor of major salivary glands, but it is unusual into the larynx. The AA. expose a case of a 74-year-old man who consulted for dysphonia and diagnosed as having a subglottic pleomorphic adenoma. The patient needed an urgent tracheotomy owing to the dyspnoea. Removal of the tumor was made through direct laryngoscopy. Literature on pleomorphic laryngeal adenoma is reviewed.

[Imipenem combined with teicoplanin or vancomycin in the initial empirical treatment of febrile neutropenia. Analysis of the primary response and of a global sequential strategy in 126 episodes]. / Imipenem combinado con teicoplanina o vancomicina en el tratamiento empírico inicial de la neutropenia febril. Análisis de la respuesta primaria y de una estrategia secuencial global en 126 episodios.

The results of empiric antibiotic therapy in 126 episodes of febrile neutropenia in patients with hematologic neoplasms postchemotherapy and bone marrow transplantation are presented. The main objective of this work was the study of the initial control of infection comparing two glycopeptidic antibiotics: vancomycin and teicoplanin combined with imipenem in first line of empiric therapy. The secondary objective was to analyze the overall control of infection during the complete episode of neutropenia using a sequential empiric antibiotic therapy course which included the addition of amikacin followed by intravenous amphotericin B when fever persisted or recurred without microbiological documentation. Both initial courses (no guidelines), imipenem + vancomycin (arm A) and imipenem + teicoplanin (arm B) resulted in a similar percentage of response at 72 hours, both in episodes of fever of unknown origin (FUO) (55% and 68%, respectively; p = NS) and in those microbiologically documented (54% and 34.5%, p = NS); 58% and 79% of these episodes, respectively, were caused by gram-positive organisms. About 60% of patients in both arm ultimately required the empiric addition of amikacin, with or without amphotericin B, because of persistence or recurrence of fever; the percentage of overall responses in both arm did not differ significantly, both in FUO (70% and 86%, p = NS) and in microbiologically documented episodes (71% and 45%, p = NS). The overall infectious mortality for the whole group was 1.58%. In conclusion, no significant differences were observed in the clinical response or in toxicity between the combination of imipenem with any of the two glycopeptides: vancomycin or teicoplanin, for the initial empiric therapy of febrile neutropenia. The sequential empiric use of amikacin followed by amphotericin B assured an adequate overall control of infection in a group of patients with prolonged severe neutropenia.

[Transient bacteremia caused by Corynebacterium urealyticum: apropos of 2 cases]. / Bacteriemia transitoria por Corynebacterium urealyticum: a propósito de 2 casos.

BACKGROUND: Corynebacterium urealyticum is a pathogen mainly isolated from the urinary tract and seldom from the blood. We present two cases of bacteremia caused by multiresistant C. urealyticum isolated in two and three blood cultures respectively. PATIENTS AND METHODS: The two cases were studied. C. urealyticum was isolated from blood cultures and clinical charts were reviewed retrospectively. No history of prior antibiotic therapy was observed in either patient. Blood cultures were processed using BACTEC NC 730 system (Becton Dickinson). The API Coryne system (BioMérieux) was used to identify both strains. RESULTS: Despite both patients having not received any antibiotic treatment, they improved clinically and microbiologically. Therefore, the episodes were considered as transitory bacteremias. CONCLUSION: Although C. urealyticum is not common, we believe that it is necessary to identify any diphtheromorphic microorganism in blood, when they are clinically significant.

Nosocomial septicemia caused by Serratia plymuthica.

We report a case of nosocomial septicemia in a 79-year-old patient caused by Serratia plymuthica with no evident focus of infection. The patient was treated with gentamicin (40 mg every 8 h) during 10 days; clinical resolution of the infection was obtained after the 10-day treatment period.

[Treatment of hyperthyroidism from Graves-Basedow's disease]. / Tratamiento del hipertiroidismo por enfermedad de Graves-Basedow.

The Graves's Disease is the most frequent cause of hyperthyroidism. Currently, there is a lack of consensus with respect to the therapeutical role played by synthetic antithyroids, radioactive iodine and surgery. In order to study in depth this issue, we have analyzed the results of the therapy administered to 217 patients with Graves's Disease: 96 were treated with synthetical anti-thyroids, 46 with surgery and 75 with radioactive iodine. After twelve months of therapy with synthetic antithyroids, remission of the disease was observed in 64 patients (67%); the only factor predicting such remission was the absence of ophthalmopathy (p < 0.05); all 64 patients were followed-up during 12 months, detecting the recurrence of hyperthyroidism in 33 of them. Such recurrence is predicted by the serum levels of thyroid hormones before the administration of the therapy (p < 0.001). On the contrary, in patients treated with surgery or radioactive iodine, hyperthyroidism was controlled in 91% and 100% of them, respectively. Given the evolution of patients with Graves's Disease treated with synthetic antithyroids, we suggest the use of a more aggressive approach for the management of these patients.