Search results for "patho"
showing 10 items of 10772 documents
Clinical implications of a rare renal entity: Pleomorphic Hyalinizing Angiectatic Tumor (PHAT)
2017
Abstract Pleomorphic Hyalinizing Angiectatic Tumor (PHAT) is a rare benign lesion characterized by slow growth, infiltrative behavior and high rate of local recurrences. Only one case has been described in retroperitoneum, at renal hilum, but not involving pelvis or parenchyma. Here we present the first case of PHAT arising in the renal parenchyma. A nodular lesion in right kidney lower pole was diagnosed to a 61 year old woman. The patient underwent right nephrectomy. Microscopically, the lesion showed solid and pseudo-cystic components with hemorrhagic areas characterized by aggregates of ectatic blood vessels. Pleomorphic cells were characterized by large eosinophilic cytoplasm with irre…
Free-Floating Mesothelial Cells in Pleural Fluid After Lung Surgery
2018
Objectives: The mesothelium, the surface layer of the heart, lung, bowel, liver and tunica vaginalis, is a complex tissue implicated in organ-specific diseases and regenerative biology; however, the mechanism of mesothelial repair after surgical injury is unknown. Previous observations indicated seeding of denuded mesothelium by free-floating mesothelial cells may contribute to mesothelial healing. In this study, we investigated the prevalence of mesothelial cells in pleural fluid during the 7 days following pulmonary surgery. Study design: Flow cytometry was employed to study pleural fluid of 45 patients after lung resection or transplantation. We used histologically validated mesothelial …
MiR-675-5p supports hypoxia induced epithelial to mesenchymal transition in colon cancer cells
2017
// Viviana Costa 1, * , Alessia Lo Dico 2, * , Aroldo Rizzo 3 , Francesca Rajata 3 , Marco Tripodi 4, 5 , Riccardo Alessandro 6, 7, * , Alice Conigliaro 4, * 1 Innovative Technological Platforms for Tissue Engineering, Theranostic and Oncology, Rizzoli Orthopedic Institute, Palermo, Italy 2 Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Milano, Italy 3 Unita Operativa di Anatomia Patologica, Azienda Ospedaliera Ospedali Riuniti “Villa Sofia-Cervello”, Palermo, Italy 4 Dipartimento di Biotecnologie Cellulari ed Ematologia, Sapienza University of Rome, Rome, Italy 5 National Institute for Infectious Diseases L. Spallanzani, IRCCS, Rome, Italy 6 Dipartimen…
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus
2016
International audience; Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In contrast with Schimmelpenning syndrome, no cerebral, ocular or skeletal anomalies have hitherto been reported. We report two unrelated fetuses with PPSN, one with large pink exophytic tumours, the other with minor features but similar microscopic findings. We performed whole-exome sequencing in affected skin tissue from fetus 1, which identified a postzygotic de novo FGFR2 c.1144T>C (p.Cys382Arg) mutation in 34[middle dot]6% of reads which was absent in the parents' blood. Targeted deep sequencing of FGFR2 confirmed i…
Actinin-4 splice variant - a complementary diagnostic and prognostic marker of pancreatic neuroendocrine neoplasms.
2019
Introduction: For pathological diagnosis of pancreatic neuroendocrine neoplasms (pNENs) the routinely used immunohistochemical markers are chromogranin A (CgA) and synaptophysin (Syn). Their ability as prognostic markers is not well established. A splice variant of actinin-4 (Actn-4sv) was recently found to be an excellent biomarker of neuroendocrine neoplasms of the lung. We aimed to investigate the expression of Actn-4sv in pNENs and evaluate its quality as a biomarker of pNENs. Methods: Paraffin-embedded and frozen tissues specimens from 122 pNENs were analyzed. Western blots were performed to prove and compare the relative amount of Actn-4sv expression in pNENs tissue homogenates. For c…
Prenatal Ambient Air Pollution, Placental Mitochondrial DNA Content, and Birth Weight in the INMA (Spain) and ENVIRONAGE (Belgium) Birth Cohorts
2016
The research leading to these results was funded by the Spanish Ministry of Health (FIS-PI11/00610, FIS-PI041436, FIS-PI081151, FIS-PI042018, and FIS-PI09/02311), the European Union (EU) (FP7-ENV-2011 cod 282957 and HEALTH.2010.2.4.5-1), the Instituto de Salud Carlos III (Red INMA G03/176, CB06/02/0041, FIS-FEDER 03/1615, 04/1509, 04/1112, 04/1931, 05/1079, 05/1052, 06/1213, 07/0314, 09/02647, 11/01007, 11/02591, CP11/00178, FIS-PI06/0867, and FIS-PS09/00090), the Conselleria de Sanitat Generalitat Valenciana, the Generalitat de Catalunya-CIRIT (1999SGR 00241), the Obre Social Cajastur, the Universidad de Oviedo, the Department of Health of the Basque Government (2005111093 and 2009111069),…
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency
2017
International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …
11 and 15-month-old infants do not compensate immediately for energy variation, and no further adjustment occurs 12 or 24 hours later
2021
International audience; Previously, we demonstrated that, in the short term, infants undercompensated for the energy from a preload given 25 min before an ad libitum meal. However, although not consistent, there is evidence in young children that caloric adjustment may occur over longer periods. We investigated the extent to which further energy adjustment occurs up to 24 h after a single meal preceded by preloads of varying energy density (ED) in infants that are 11 and 15 months old. Short-term caloric adjustment was measured in 11- and 15-month-old infants through a preload paradigm meal in the laboratory. To assess their caloric adjustment over longer periods (12 and 24 h), we used 24 h…
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
2019
The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and languag…
Dental status, salivary flow, and sociodemographic aspects in Sheehan Syndrome patients
2018
Background Sheehan’s syndrome (SS) is one of the leading causes of hypopituitarism in developing countries. It occurs after postpartum necrosis of the pituitary gland, and it is considered a significant public health problem. This paper, apparently unpublished, aimed to perform an analysis on oral aspects in patients with SS. Material and Methods A cross-sectional study was performed with 23 women diagnosed with SS at the Division of Endocrinology and Diabetes (Walter Cantídio University Hospital, Fortaleza, Brazil). Results Data on sociodemographic, dental and salivary flow aspects were collected through a clinical approach and a panoramic radiograph request. The mean age was 64 ± 11.5 yea…