Annali italiani di medicina interna : organo ufficiale della Societa italiana di medicina interna最新文献

Over the last 20 years, many studies explored how the way information is presented modifies choices. This sort of effect, referred to as "framing effects", typically consists of the inversion of choices when presenting structurally identical decision problems in different ways. It is a common assumption that physicians are unaffected (or less affected) by the surface description of a decision problem, because they are formally trained in medical decision making. However, several studies showed that framing effects occur even in the medical field. The complexity and variability of these effects are remarkable, making it necessary to distinguish among different framing effects, depending on whether the effect is obtained by modifying adjectives (attribute framing), goals of a behavior (goal framing), or the probability of an outcome (risky choice framing). A further reason for the high variability of the framing effects seems to be the domain of the decision problem, with different effects occurring in prevention decisions, disease-detection decisions, and treatment decisions. The present work reviews the studies on framing effects, in order to summarize them and clarify their possible role in medical decision making.

Good's syndrome is a rare adult-onset immunodeficiency disease characterized by hypogammaglobulinemia and thymoma. A 61-year-old male patient was diagnosed with Good's syndrome after a 2-year history of recurrent respiratory infections. Chest X-ray and chest computed tomography scan showed a mediastinal mass which was surgically removed. Histology revealed a thymoma. Following surgery he presented with recurrent respiratory and urinary tract infections and with esophageal candidiasis, even though his overall conditions dramatically improved after starting treatment with an appropriate dosage of intravenous immunoglobulins. Laboratory tests showed hypogammaglobulinemia, mild neutropenia, lymphopenia with no B cells, decreased CD4+ lymphocytes with an inverted CD4/CD8 ratio and increased interleukin-4-producing CD4+ lymphocytes, suggestive of an excessive Th2 response.

The perioperative management of patients at risk for cardiovascular diseases who undergo non-cardiac surgery has been subject of debate over the past few decades and is still of great interest. An adequate perioperative management may modify postoperative mortality and morbidity and may improve the long-term prognosis. The purpose of this review is to examine the present day knowledge regarding the preoperative evaluation and perioperative and postoperative management. In spite of the available guidelines (the American College of Cardiology and the American Heart Association of 1996) and of several studies on this subject, many controversies still persist. The main questions are: 1) the preoperative cardiovascular evaluation through non-invasive tests (and the true predictive value of the increased cardiovascular risk) and 2) the real benefit of coronary revascularization before non-cardiac surgery. The last part of this review highlights many recent clinical observations and experimental studies regarding the efficacy of the extensive use of beta-adrenergic receptor blockers and optimized anti-ischemic pharmacological therapy in reducing the cardiovascular risk of non-cardiac surgery and in improving the long-term prognosis.

The authors report a rare case of acute hematogenous osteomyelitis in a premature very low-birth weight infant caused by Neisseria meningitidis, a microorganism which occasionally causes arthritis, but is very rarely involved in bone infections. The strong teamwork of clinicians, the clinical microbiologist and the radiologist allowed the prompt formulation and confirmation of the clinical suspect (regardless of the paucity of symptoms and systemic signs), the rapid isolation of the microorganism and the prompt initiation of a specific therapy, thus obviating the need for a more invasive bone biopsy, which would have been hazardous considering the risks associated with an invasive procedure, and much higher in our case because of the young age of the patient and his prematurity. Moreover, this case confirms that early ultrasonographic examination may anticipate the diagnosis and the initiation of therapy in case of a clinical suspicion of acute hematogenous osteomyelitis, thus avoiding serious complications such as growth disorders or arrest, shortening or angular deformity, loss of motion and degenerative osteoarthritis. In accordance with what suggested in the literature, initial parenteral treatment followed early by oral antibiotics was chosen, with an excellent outcome.

The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to start a specific therapeutic treatment. Fabry disease is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. Fabry disease is a severe X-linked disorder presenting with a higher morbidity between the third and the fourth decade of life. Fabry disease may be confused with other diseases or completely misdiagnosed: its frequency is estimated worldwide to be 1:117000. In Italy, 65 patients have been identified by several specialized institutions; age, sex, onset of first clinical signs and symptoms were analyzed and reported. In conclusion, this is the first Italian collaborative study that allows to delineate and point out the clinical signs of Fabry disease to perform a correct and early diagnosis. Enzyme replacement therapy is now available and its early beginning can prevent renal and cardiac failure, improve the quality of life and life expectancy in these patients.

POEMS (Crow-Fukase) syndrome is a rare plasma cell lymphoproliferative disorder associated with polyneuropathy (P), organomegaly (O), endocrinopathy (E), monoclonal (M) gammopathy and skin (S) abnormalities. The latter are usually not specific and include hyperpigmentation, hypertrichosis, cutaneous angioma and skin-thickening. A 45-year-old Italian woman was admitted to hospital because of muscle weakness, marked fatigue and paresthesia of the upper and lower extremities. Two and a half years earlier, a POEMS syndrome had been diagnosed on the basis of a history of organomegaly and mild lymphadenopathy, IgA-lambda monoclonal gammopathy, hypothyroidism, severe lower and upper limb sensory-motor peripheral neuropathy and a single osteosclerotic lesion in the left humerus. Eight weeks later, she developed skin lesions bioptically shown to be due to calciphylaxis-induced cutaneous vasculitis. To our knowledge, this is the first case of POEMS syndrome with this peculiar type of vasculitis. The absence of predisposing conditions, namely renal failure, hyperparathyroidism or clotting disorders renders the pathogenetic mechanism(s) of this severe type of vasculitis more intriguing.

Hypertension is a common disorder of multifactorial origin that constitutes a major risk factor for cardiovascular events such as stroke and myocardial infarction. The subunits of the heterotrimeric G proteins are attractive candidate gene products for both susceptibility to essential hypertension and interindividual variation in blood pressure. A polymorphism (825C/T) in exon 10 of the GNB3 gene, that encodes for the beta3 subunit, has recently been described. The 825T allele is associated with alternative splicing of the gene and formation of a truncated but functionally active beta3 subunit. Carriers of the 825T allele appear to have an increased risk for hypertension, obesity, insulin-resistance and left ventricular hypertrophy. Moreover, 825T allele carriers respond with a stronger decrease in blood pressure to therapy with a thiazide diuretic and with clonidine. GNB3 825T allele may be regarded as a potential genetic marker for a better definition of the risk profile of hypertensive subjects, but further studies are needed to precisely define the impact of T allele on the prognosis of such patients.

Atherosclerosis is a chronic inflammatory process due to the endothelial reaction to stress risk factors, only some of which are known. Clinical and experimental observations have suggested that several infectious agents are involved in this process. These agents, particularly the germ Chlamydia pneumoniae, and their relationship to the atheromata are described. Two hypotheses concerning how these infectious agents act are suggested. Both hypotheses are based on the capacity of these agents to induce the production, by endothelial cells, of the so-called heat shock protein (HSP), one of whose characteristics is to provoke an immune system reaction: 1) induction of a cross immune reaction, due to "molecular mimicry", between the HSP of infectious origin and the one that is produced by the endothelium as a consequence of stress due to the risk factors; 2) infection of the endothelial cells, followed by the synthesis and exposure on their surface of the HSP and activation of innate immune surveillance. Numerous experimental studies have been performed and are still being performed with the aim of verifying the efficacy of antibiotic treatment in preventing or reducing the rate of acute cardiovascular events. The results are still inconclusive. Probably, to be effective, treatment should be started at an earlier age. Prevention through vaccination against the involved microorganisms and the consequent induction of immune tolerance toward the HSP is also being investigated. As the mechanisms of action of infectious agents are further clarified, effective therapeutic and preventive measures could be taken with important clinical spin-offs.