88 research outputs found

    In a case of female-to-male sex reassignment, testosterone therapy switches on an underlying Brugada

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    Abstract Background The Brugada syndrome, diagnosed by a typical electrocardiographic pattern, is a genetic condition characterised by an increased risk of potentially lethal ventricular arrhythmias and sudden cardiac death. Even if its pathophysiological mechanism is unknown, its prevalence in male suggested a possible hormonal involvement. Case presentation In this case involving a woman who underwent a female-to-male sex reassignment, we documented that testosterone administration was able to switch on and, when stopped, to switch off a latent pattern of Brugada. Conclusions Our observation strongly supports a possible involvement of testosterone in the ECG manifestation of Brugada syndrome even if the general low prevalence of the Brugada syndrome does not support to screen every female-to-male sex reassignment

    Adaptation and Evolution in a Gravitational Environment — A Theoretical Framework for the Limited Re-Generative Post- Natal Time Window of the Heart in Higher Vertebrates

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    In the complex interplay between organization of the living matter, natural selection and adaptation, mammals have evolved with limited or no re-generative capabilities of the heart after birth. The reasons for this apparent flaw is far from being understood, however, they are closely related to the concept of organization and allocation of resources in a hierarchically structured multi-cellular organism with an evolved system of transport and communication, such as the circulation of blood. In humans this flaw may not have been a problem for thousands of years until, in the twentieth century, the increase in life expectancy has given rise to diseases generally less frequent in the first three or four decades of life. Therefore, the significant increase in morbidity and mortality related to cardiovascular disease, seen mainly in Western countries in the last years, has brought to the foreground the problem of cardiac damage and of its repair. In order to develop new therapies for cardiovascular damage aimed at reawakening and, possibly, expanding the limited re-generative capabilities of the heart is necessary to reconsider the basic concept on adaptation and functional reserve allocation in complex organisms

    Time arrow in published clinical studies/trials indexed in MEDLINE: a systematic analysis of retrospective vs. prospective study design, from 1960 to 2017

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    Clinical studies/trials are experiments or observations on human subjects considered by the scientific community the most appropriate instrument to answer specific research questions on interventions on health outcomes. The time-line of the observations might be focused on a single time point or to follow time, backward or forward, in the so called, respectively, retrospective and prospective study design. Since the retrospective approach has been criticized for the possible sources of errors due to bias and confounding, we aimed this study to assess if there is a prevalence of retrospective vs. prospective design in the clinical studies/trials by querying MEDLINE. Our results on a sample of 1,438,872 studies/trials, (yrs 1960–2017), support a prevalence of retrospective, respectively 55% vs. 45%. To explain this result, a random sub-sample of studies where the country of origin was reported (n = 1,576) was categorized in high and low-income based onthe nominal Gross Domestic Product (GDP) and matched with the topic of the research. As expected, the absolute majority of studies/trials are carried on by high-income countries, respectively 86% vs. 14%; even if a slight prevalence of retrospective was recorded in both income groups, for the most part prospective studies are carried out by high-GDP countries, 85% vs. 15%. Finally, the differences in the design of the study are understandable when considering the topic of the research

    Isolation and culture of fibroblasts from endoscopic duodenal biopsies of celiac patients

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    BACKGROUND: Fibroblasts are actually considered pivotal in inflammation and tissue remodelling process and for these reasons they are involved in the pathogenesis of autoimmune disorders such as celiac disease. Investigations to define the role of fibroblasts in celiac diseases are obstructed by the absence of specific models. Our objective is to isolate and culture primary fibroblasts from endoscopic duodenal biopsies of celiac and non-celiac subjects, to analyze their growth patterns and the morphometric characteristics. METHODS: 60 duodenal bioptic specimens from 20 celiac patients and 114 from 38 non-celiac subjects were mechanically chopped and enzymatically digested in order to obtain primary cell cultures. Growth patterns, karyotype (Q-banding analysis), expression of typing proteins (fibroblast surface protein and cytokeratin 20) and morphometric parameters (diameters and their ratio, perimeter, area and perimeter/area ratio at computerised image analysis) were investigated on cultured cells. RESULTS: Primary cells were successfully cultured in 78% of the collected duodenal biopsies. Cultured cells, expressing the fibroblast surface protein, were negative for cytokeratine 20 and maintained a normal kariotype. Cells grew slowly without differences between the celiac and the non celiac group. Morphometric analysis of celiac fibroblasts revealed significantly increased dimensions, with a preserved diameters ratio, and a reduced perimeter/area ratio. CONCLUSION: For the first time this study demonstrates the feasibility of culturing primary fibroblast cell from endoscopic duodenal biopsies in celiac and non-celiac subjects, opening a new window of opportunity in studies intended to establish the role of fibroblasts as a possible partaker in the pathogenesis of the celiac mucosal damage

    Solitary fibrous tumor of the pleura presenting with syncope episodes when coughing

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    <p>Abstract</p> <p>Background</p> <p>Solitary fibrous tumor of the pleura is a rarely encountered clinical entity which may have different clinical pictures. Although the majority of these neoplasms have a benign course, the malignant form has also been reported.</p> <p>Case presentation</p> <p>We herein describe a case of 72 year-old man with head, facial, and thoracic traumas caused by neurally-mediated situational syncope when coughing. The diagnostic work-up including chest x-ray, CT and PET, revealed a large solitary mass of the left hemithorax. Radical surgical resection of the mass was performed through a left lateral thoracotomy and completed with a wedge resection of the lingula. Hystological examination of the surgical specimen showed an encapsulated mass measuring 12 × 11.5 × 6 cm consistent with a solitary fibrous tumor of the pleura. It's surgical removal definitively resolved the neurologic manifestations. The patient had no postoperative complications. At two years follow-up the patient is free from recurrence and without clinical manifestations.</p> <p>Conclusion</p> <p>In our case its resection definitively resolved the episodes of situational syncope due, in our opinion, to the large thoracic mass compressing the phrenic nerve</p

    Multiple right-sided pulmonary nodules: metastatic cancer or resectable early stage tumor?

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    The aim of this paper is to focus attention on complex cases of lung disease that may benefit from being managed outside formal guidelines. A 52 year-old man who had previously undergone a laryngectomy for squamous cell carcinoma, presented with a 1.2 cm nodule in the right upper pulmonary lobe. Three months later a new CT scan found that the nodule had slightly increased in size and also detected two new smaller nodules in the middle lobe. A PET/CT scan showed metabolic hyperactivity of all nodules. Since needle aspiration of the upper one revealed malignant cells, the patient was considered to be suffering from metastatic cancer and started on chemotherapy. At follow-up both CT and PET scans found a significant reduction in volume and activity of the lower nodules but no change in the upper one. At diagnostic thoracoscopy, histology demonstrated that the upper nodule was an adenocarcinoma while the lower ones were inflammatory. An upper lobectomy and systematic nodal dissection were therefore performed. Histology established a diagnosis of upper pulmonary adenocarcinoma and sarcoidosis. Our report suggests that in complicated oncologic cases in which non-invasive diagnostic tools yield incongruous results surgery should be considered without delay
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