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

Although, in the course of the last 50 years, the achievements in the medical field have been astonishing, at the beginning of the third millennium a number of clinical pictures are still left without a precise nosographic origin. In the past, the delay in scientific communication was the main explanation presented for the lack of understanding of clinical pictures of unknown nosographic origin. The history of medicine provides excellent examples of this dispersion of human capital, even if the history of clinical neurology presents "exceptions" (the pictures that we now call de la Tourette's syndrome and Parkinson's disease) that indicate that major clinical syndromes could be clearly detected and relatively rapidly diffused even in the 19th century. Contrary to the past, the delay in scientific communication no longer seems an obstacle to the sharing of medical knowledge. Nevertheless, the problem of the in-depth comprehension of clinical pictures of unknown nosographic origin still remains dominant, mainly because of the limited spread of ample and flexible online accessible databases of unknown nosographic origin clinical syndromes. The need for interactive electronic archives and other artificial intelligence resources in order to promote progress in clinical knowledge is discussed in this paper.

Obesity is frequently associated with a high cardiovascular risk. The aim of this study was to assess safety, tolerability and efficacy of orlistat treatment in comparison with placebo in the reduction of body weight in obese subjects and the related cardiovascular risk factors. For such a purpose, 146 obese patients were randomly assigned to two treatments over a period of 27 weeks: 1) hypocaloric diet, exercise and placebo (n = 72); 2) hypocaloric diet, exercise and orlistat 120 mg twice/day (n = 74). The side effects observed were similar for the two treatment groups, with exception of gastrointestinal symptoms, which were significantly more frequent in the orlistat group than in the placebo group. Nevertheless, the side effects were limited and resolved. In fact, none of the patients dropped-out. During the observation period a significantly higher reduction in body weight (-6.9 kg, p < 0.001), systolic blood pressure (-4.9 mmHg, p < 0.001), diastolic blood pressure (-2.9 mmHg, p < 0.001), LDL cholesterol (12.8%, p < 0.001) was observed in the orlistat group than in the placebo group (-4.1 kg, 3.2 mmHg, 1.8 mmHg and 5.1%, respectively). By using a validated questionnaire, in the orlistat group a significantly higher motivation (p < 0.01) to continue diet and exercise than in the placebo group was observed. In addition, at the end of the study, patients receiving orlistat treatment gave a better evaluation of their own image than patients receiving placebo (p < 0.01).

Hepatic steatosis is the hallmark of nonalcoholic fatty liver disease (NAFLD), which is the consequence of multiple metabolic derangements among which insulin resistance plays a pivotal role. Steatosis is, also, a feature of hepatitis C virus (HCV) infection. However, in chronic hepatitis C, the prevalence of steatosis is 2.5-fold more elevated than that expected by a chance concurrence with NAFLD, suggesting that HCV may be implied in the development of steatosis. As observed in NAFLD, in patients infected with HCV genotype 1 steatosis is associated with an increased body mass index. On the other hand, in patients infected with genotype 3 the extent of steatosis strictly correlates with the viral load indicating that steatosis is mainly "virus-related". Regardless of the "metabolic" or "viral" etiology, hepatic steatosis in HCV contributes to the progression of liver fibrosis, to the development of hepatocellular carcinoma and to an impaired response to interferon treatment. Features such as obesity, insulin resistance and type 2 diabetes mellitus are shared by NAFLD and HCV-associated steatosis. In addition, HCV infection, directly or through steatosis, favors the development of type 2 diabetes mellitus. Hyperlipidemia is an independent predictor of the development of NAFLD, but not of HCV-associated steatosis. Arterial hypertension is common in nonalcoholic steatohepatitis patients, and HCV infection has recently been acknowledged as an independent risk factor for atherosclerosis. The role of iron in the progression of both NAFLD and HCV-associated steatosis remains controversial while lipoperoxidation and oxidative stress are pathogenic mechanisms shared by both. Some metabolic risk factors may be shared by both HCV-associated steatosis and NAFLD although the disease progression and pathophysiological background may be different. Preliminary data suggest that the therapeutic options for NAFLD may also be useful to improve HCV-associated steatosis.

We describe the case of a 70-year-old male with the catastrophic antiphospholipid syndrome admitted for skin gangrene of the fingers. The initial diagnosis was antiphospholipid antibody syndrome in a patient with rheumatoid arthritis and a history of deep vein thrombosis of the lower limbs. Liver involvement, the characteristic skin gangrene, pneumonia and worsening severe renal failure were determinant to make the final diagnosis of catastrophic antiphospholipid syndrome that led the patient to death.

Paraneoplastic syndromes are uncommon diseases with different pathogenesis and clinical manifestations, correlated with neoplasms but not due to the tumor, metastasis or other distant effects. The aim of the present article is to describe the main paraneoplastic syndromes (neurological, endocrine-metabolic, rheumatological, osteo-articular, dermatological, hematological, vascular and nephrological), the associated pathogenetic theories (theory of the common embryonal sketches, theory of reactivation of the information and autoimmune theory) and the most important therapeutic approaches, on the basis of the literature. Experimental works, reviews and clinical observations, in some cases still in progress, regarding the described syndromes, their pathogenesis and their therapeutic approach have been examined. No meta-analyses regarding paraneoplastic syndromes have been published in the literature. The better described pathogenesis is the autoimmune one, characteristic of neurological, nephrologic and some dermatologic syndromes, for which the clinical and laboratory findings have been well supported. The pathogenetic theories associated with the other syndromes have been correlated on the basis of the literature. Paraneoplastic syndromes are important because their identification permits an early diagnosis of tumors and rapid treatment, with a largely improved prognosis and life expectancy for the patient. They often represent the only signal of a silent neoplasm; sometimes they precede the tumor itself. More studies are necessary for a better definition of their clinical aspects and pathogenesis and to delineate standard guidelines for a diagnostic-therapeutic approach to these diseases.

Screening procedures performed in research-setting studies have shown that the prevalence of celiac disease in patients with autoimmune thyroid disease is approximately 4-15 times higher than the general population, thus suggesting that patients with autoimmune thyroid disease should be routinely screened for celiac disease. However, the performance of these screening programs has never been evaluated in everyday, clinical-practice setting. We invited newly diagnosed patients with autoimmune thyroid disease, seen at our Hospital, to participate in a serological screening for celiac disease. Two-hundred and thirty-one patients, female to male ratio 8.89:1, mean age 41.3 +/- 18.1 years, range 7.1-80.5 years were included. The number of diagnosed celiac disease was 0. Our results do not support the usefulness of a screening for celiac disease in patients with autoimmune thyroid disease in daily practice, despite the favorable results obtained in research-setting studies. Since screening is a resource-consuming activity, for both patients and clinicians, we suggest that a careful evaluation of the yield of a screening is always warranted before its adoption in the clinical practice.

This study was designed to analyze the prevalence of I405V polymorphism in the cholesteryl ester transfer protein (CETP) gene, the blood CETP concentration, the lipoprotein pattern and certain clinical endpoints in two populations, one of young and another of very old individuals. We recruited 100 healthy young adults (median age 31 years) and 100 very old subjects (median age 89 years) and analyzed their DNA for the presence of variants V and I of the CETP gene. Subjects with the V/V genotype had lower serum concentrations of CETP. The frequency of this genotype in the very old was more than double that in the young population. Young adults with the V/V genotype had a less atherogenic lipoprotein pattern [lower total and LDL cholesterol levels, lower apolipoprotein (Apo) B levels, and a lower Apo B/Apo A-I ratio] than those with the I/V or I/I genotypes. The very old subjects, particularly those with the V/V genotype, had larger LDL than the young adults. The prevalence of clinical endpoints was much lower among the very old subjects with the V/V genotype.

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and pain. TRAPS is caused by mutations of the TNFRSF1A gene localized at 12p13. The gene encodes extracellular region of the p55 TNF-alpha receptor, resulting in impaired cleavage and down-regulation of the membrane expressed form of the receptor, a diminished shedding of potentially antagonistic soluble form of the receptor and, as a consequence, an unbalanced TNF-alpha action. Most affected patients are from northern Europe. Fever, sterile peritonitis, pleural pain, arthralgia, myalgia, skin rash, and/or conjunctivitis occur during the syndrome episodes; some patients also develop systemic amyloidosis, with some differences among patients. An acute-phase response occurs during the episodes. We describe a case of a 23-year-old Moldavian woman, living in Italy presenting recurrent fever episodes with abdominal pain and skin rash. A biopsy showed small vessel vasculitis. The genetic analysis showed a TNFRSF1A gene (R92Q) mutation. In this paper we report also a literature review on this rare disease.

Helicobacter pylori (H. pylori) infection may be diagnosed by means of invasive techniques requiring endoscopy and biopsy (histological examination, rapid urease test, culture, polymerase chain reaction) and by non-invasive techniques (urea breath test, detection of specific antibodies in the serum or urine, detection of the H. pylori antigen in a stool specimen). Some non-invasive tests detect active infection e.g. the urea breath test and the stool antigen test and are called active tests. Other non-invasive tests are markers of exposure to H. pylori (e.g. serology or urine) but do not indicate whether active infection is ongoing and are called passive tests. Non-invasive tests and treatment strategies are widely recommended in primary care settings and the choice of the appropriate test depends on the pre-test probability of infection, the characteristics of the test being used and its cost-effectiveness. The available non-invasive tests are reviewed in this article.