Minerva medica最新文献

In the past the right ventricle (RV) has been traditionally regarded as a simple conduit between the venous system and the pulmonary circulation and it has aroused little interest in both clinical and echocardiographic cardiologists to such an extent that it has been defined as the "forgotten chamber." Subsequently it was clearly shown that the right heart (RH) plays an important physiologic role in cardiac activity, and that congenital or acquired alterations in its structure and function have an important prognostic value. Aim of this review is to shed the light on the echocardiographic approach to this cardiac chamber. In this narrative review we critically explored the most recent literature on this topic using PubMed and Medline and examining the most recent guidelines on the echocardiographic approach to the RV. Echocardiographic approach to RV presents some technical difficulties, which stem from the position of the RV inside the thorax and around the LV and from its particular anatomy, which precludes geometric assumptions. However, RV may now be evaluated quantitatively and qualitatively in many ways, and some new methods can partially overcome some of the limits imposed by its complex anatomy, thereby yielding a quantitative evaluation. Furthermore, due to the wide range of pathologies which may involve the RV a disease-oriented approach should be considered in the echocardiographic investigation of right heart disease.

Background: Severe alpha1-antitrypsin (AAT) deficiency (AATD) is associated with a high risk of airflow obstruction and emphysema. The risk of lung disease in those with intermediate AAT deficiency is unclear. Our aims were to compare pulmonary function, time of onset of symptoms, and indicators of quality of life among patients with severe AATD (PI*ZZ), patients with intermediate AATD (PI*MZ) from the Italian Registry of AATD with a chronic obstructive pulmonary disease (COPD) cohort of patients without AATD (PI*MM).

Methods: We considered a total of 613 patients: 330 with the PI*ZZ genotype, 183 with the PI*MZ genotype and 100 with the PI*MM genotype. Radiological exams, pulmonary function test, and measurement of quality of life have been performed on all cohorts of patients.

Results: The three populations differ significantly in terms of age at COPD/AATD diagnosis (P=0.00001), respiratory function (FEV1, FVC, DLCO P<0.001), quality of life (P=0.0001) and smoking history (P<0.0001). PI*ZZ genotype had 24.9 times a higher likelihood of developing airflow obstruction. The MZ genotype is not associated with a significant early risk of airflow obstruction.

Conclusions: The comparison of populations with PI*ZZ, MZ and MM genotypes allows to delineate the role of alpha1-antitrypsin deficiency on respiratory function and on the impact on quality of life, in relation to other risk factors. These results highlight the crucial role of primary and secondary prevention on smoking habits in PI*MZ subjects and the importance of an early diagnosis.

Background: Renal cell carcinoma (RCC) with the distinct type of t(6;11) (p21;q12) translocation (transcription factor EB, TFEB) is a rare neoplasm. It is even less when talks about primary retroperitoneal TFEB RCCs. To our knowledge, no previous literature has been reported about this kind of RCCs. In this article, we report a case of primary retroperitoneal renal cell carcinoma associated with transcription EB gene fusion.

Methods: A 73-year-old male patient presented with a retroperitoneal mass for more than one month.

Results: Pathologically, the mass was soft and colorful, tumor cells showed a biphasic morphology characterized by nests of larger epithelioid cells surrounding intraluminal collections of smaller cells clustered around basement membrane materia. These tumor cells were positive for Pax-8, EMA, TFEB, CK, P504S, Vimentin and CD10 on immunohistochemical stain, and positive for TFEB on fluorescence in situ hybridization assay.

Conclusions: We reported the first case of primary retroperitoneal renal cell carcinoma associated with transcription EB gene fusion. The pathological feature of the case we reported was very typical. The best treatment at presentation is the total resection. Long-term follow-up study is needed in order to acquire better diagonitic quality and fulfill diagnostic requirements.