Search results for " DIAGNOSIS"

Primary omental tumor with ultrastructural features of cellular schwannoma and absence of S-100 antigen reactivity.

1989

Summary We report a primary well-delimited, large mesenchymal omental neoplasm which appeared in a 58 year old man without neurofibromatous traces. The histological and ultrastructural features were consistent with a Schwann cell origin. However, repeated immunohistochemical reactions failed to demonstrate protein S-100 antigen reactivity in the neoplasic cells, the latter only expressing vimentin. The differential diagnosis with hemangiopericytoma is proposed.

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling path…

2021

To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and suspicion of a localized overgrowth disorder (LOD) suggestive of genetic variants in the PI3K-AKT-mTOR signaling pathway.We analyzed retrospectively data obtained between 1 January 2013 and 1 May 2020 from fetuses with brain and/or limb overgrowth referred for molecular diagnosis of PI3K-AKT-mTOR pathway genes by next-generation sequencing (NGS) using pathological tissue obtained by fetal autopsy. We also assessed the diagnostic yield of amniotic fluid.During the study period, 21 subjects with LOD suspected of being secondary to a genetic variant of the…

Differential diagnosis of human hepatitis

2008

There is a variety of differential diagnoses of acute and chronic human hepatitis regularly seen in clinical praxis. Risk factor assessment for specific entities provides important information and should guide individual diagnostic procedures. Liver screening tests often remain the first indicator for hepatic pathologies and should include quantification of liver enzymes, liver function parameters and cholestatic parameters. Nevertheless, virus serology should always be done during further laboratory evaluation. To estimate the parenchymal liver damage and to exclude biliary obstruction or hepatic lesions an abdominal ultrasound scan is essential. A liver biopsy may complete the diagnostic …

Immunohistochemical Study as a Tool in Differential Diagnosis of Pediatric Malignant Rhabdoid Tumor

2010

Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alter…

Carrier screening for spinal muscular atrophy in Italian population

2014

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …

Immunohistochemical detection of EWS and FLI-1 proteinss in Ewing sarcoma and primitive neuroectodermal tumors: comparative analysis with CD99 (MIC-2…

2001

The molecular analysis of the t(11;22) rearrangement involving EWS/FLI-1 genes is likely to be of diagnostic value in Ewing sarcoma (ES) and primitive neuroectodermal tumors (PNET). The objective of the current study was to analyze the immunohistochemical expression of the EWS and FLI-1 proteins in a group of small round-cell tumors (SRCT) to determine their specificity and relevance in their differential diagnosis. Forty-eight cases-10 conventional ES, 4 large-cell ES, 5 PNET, 9 neuroblastomas (NB), 6 undifferentiated synovial sarcomas (SS), 5 rhabdomyosarcomas (RB), 5 non-Hodgkin lymphomas (NHL), 1 round-cell liposarcoma, and 3 mesenchymal chondrosarcomas-were analyzed. Immunocytochemistr…

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper fr…

2014

Item does not contain fulltext AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND RESULTS: Early diagn…

The locked psychiatric ward: hotel or detention camp for people with dual diagnosis.

2013

The concepts of autonomy and liberty are established goals in mental health care; however, involuntary commitment is used towards people with mental health and substance abuse problems (dual diagnosis).To explore how patients and staff act in the context of involuntary commitment, how interactions are described and how they might be interpreted.Ethnographic methodology in a locked psychiatric ward in Norway.Two parallel images emerged: (a) The ward as a hotel. Several patients wanted a locked ward for rest and safety, even when admission was classified as involuntary. The staff was concerned about using the ward for real treatment of motivated people, rather than merely as a comfortable hot…

MOLECULAR CHAPERONES IN HUMAN SALIVARY GLANDS: HSP90 A BIOMARKER IN HEALTH AND DISEASE

2022

Why do we need training? - A “Training school on molecular methods used for foodborne parasite diagnostics in different matrices” is a example of kno…

2020

Foodborne parasites with zoonotic potential are of particular concern for human health, being responsible for serious and potentially life threatening diseases. In the last decades, the development of molecular biology techniques have been successfully implemented for clinical diagnosis of FBPs in animal or human samples providing cheaper, less labor intensive, reliable and more sensitive tests. It is apparent from recent publications that unsubstantiated molecular methods for parasite detection that have undergone scant evaluation for sensitivity and specificity are becoming increasingly common. The aim of the organized Training Schools was to transfer knowledge on application, optimizatio…