7 research outputs found
Abdominal aorta angiosarcoma after endovascular aneurysm repair
Primary tumors originating within the wall of the arteries are rare and they frequently manifest late, making effective treatment a challenge. We describe here a case of Abdominal Aorta AngioSarcoma masqueraded as an infected EndoVascular Aortic Repair. The knowledge of this pathology from vascular surgeons and radiologist is crucial, because a prompt diagnosis and treatment can improve the prognosis
Acute arterial and deep venous thromboembolism in COVID-19 patients. Risk factors and personalized therapy
The Lombardy region suffered severely during the acute phase of the coronavirus diease 2019 outbreak in Italy (Mar-Apr 2020) with 16,000 diagnosed coronavirus disease 2019-related deaths (49% of the total coronavirus disease 2019-related deaths in Italy). In the area surrounding Pavia during the critical stage of the outbreak (Mar-Apr 2020), 1,225 of the documented 4,200 deaths were related to coronavirus disease 2019 infection, with a mortality rate of 181/100,000 inhabitants and an increase in deaths of 138% compared with the same period during previous years. Our aim was to report the experience of the Department of Vascular Surgery of Pavia (Lombardy, Italy), including the lessons learned and future perspectives regarding the management of coronavirus disease 2019 patients who developed severe acute ischemia with impending lower limb loss or deep vein thrombosis
Re-organization of the vascular surgery department during the acute phase of the covid19 outbreak. Lessons learned and future perpectives
SARS-CoV-2 infection represents a serious threat to public health because leads to a wide spectrum of clinical manifestations. The region Lombardia (Italy) has suffered from severe problems during the acute phase of the outbtreak in Italy (March-April 2020). The aim of our analysis is to report the experience of the Department of Vascular Surgery of Pavia, including the learned lessons and future perspectives, considering that the COVID-19 outbreak is in its acute phase in other continents
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia
Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurring in long-term culture initiating cells. However, only the former was consistently found in more mature hematopoietic cells, suggesting that cancer transformation may lead to the loss of a mutation. This case also indicates that molecular analysis on cell types other than peripheral blood leukocytes may be useful to obtain relevant biological information on JMML pathogenesis. \ua9 2011 Wiley Periodicals, Inc
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene
Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (P\u2009<\u20090.012), and a difference slightly above the significance level for RBC counts (P\u2009<\u20090.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU-E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes. \ua9 2016 Wiley Periodicals, Inc