Search results for "GISTs"

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

2017

Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests…

Changing the education paradigm in oncology: ESO masterclass, 17 years of continuous success

2020

In this review, we summarize the history of the 41 Masterclasses in Clinical Oncology (MCO) organized by ESO or ESO-ESMO during the last 17 years. MCOs have been held in five different geographical regions including: a) Central Europe, b) Eastern Europe and Balkans, c) Baltic and Euroasia, d) Arab World and Southern European Countries and e) Latin America. More than 2.000 young oncologists have attended and more than 250 distinguished faculty members have actively participated. The program exposes students to sessions covering all major tumors ("big killers") and to spotlights updating information on various important cancers and related topics. Participants are able to present their own cl…

Are Long Noncoding RNAs New Potential Biomarkers in Gastrointestinal Stromal Tumors (GISTs)? The Role of H19 and MALAT1

2019

Long noncoding RNAs (lncRNAs) are emerging as key regulators of genetic and epigenetic networks, and their deregulation may underlie complex diseases, such as carcinogenesis. Several studies described lncRNA alterations in patients with solid tumors. In particular, HOTAIR upregulation has been associated with tumor aggressiveness, metastasis, and poor survival in gastrointestinal stromal tumor (GIST) patients. We analyzed expression levels of other lncRNAs, H19 and MALAT1, in FFPE tissue specimens from 40 surgically resected and metastatic GIST patients, using real-time PCR analysis. H19 and MALAT1 were both upregulated in 50% of GIST patients. MALAT1 lncRNA expression levels seem to be cor…

What can visual caregivers expect with patients treated for SARS-CoV-2? An analysis of ongoing clinical trials and ocular side effects

2020

Within the COVID-19 pandemic context, the WHO has proposed a list of medicines to treat patients with severe acute respiratory syndrome (SARS-CoV-2). An analysis of their ocular side effects was performed. Only chloroquine and hydroxychloroquine were found to have an ocular impact in the medium and long-term. Detailed search strategies were performed in EMBASE, MEDLINE, SCOPUS and WOS Core Collection. Additionally, the worldwide ongoing clinical trials including chloroquine or hydroxychloroquine were evaluated, and their proposals of drug administration and exclusion criteria analyzed. In general, high maximum cumulative doses of chloroquine or hydroxychloroquine are being used for a short…

Mastocytosis - pathogenesis, clinical manifestation and treatment

2017

The term mastocytosis designates a group of rare disorders characterized by typical skin lesions, frequently associated episodes of anaphylaxis, and clinical symptoms related to the release of various mediators. Dermatologists/allergists are frequently the first to establish the diagnosis. The condition is based on clonal mast cell proliferation, usually in the skin or bone marrow and only rarely in the gastrointestinal tract or other tissues. In general, mastocytosis has a good prognosis in terms of life expectancy. Rare variants - including mast cell leukemia, aggressive mastocytosis, and the exceedingly rare mast cell sarcoma - require cytoreductive therapy. In cases associated with hema…

Liquid Biopsy in Gastrointestinal Stromal Tumor

2017

Over the past 15 years, gastrointestinal stromal tumors (GISTs) have emerged from a poorly understood neoplasm to a well-defined tumor entity. Starting from 2000, the discovery of gain-of-function mutations involving KIT or PDGFRα (platelet-derived growth factor-α) genes and the development of tyrosine kinase inhibitors (TKIs), such as imatinib, revolutionized dramatically the management of GISTs. Due to the almost continual emergence of new data about biological complexity of GISTs and more sophisticated whole-genome technologies, to date, the role of molecular biology is clinically important to drive therapeutic decision making.

Misdiagnosis of vertebral fractures on plain films: Are radiologists really working so bad?

2017

Acceptance of SARS-CoV-2 Vaccination Among a Cohort of IBD Patients From Southern Italy: A Cross-Sectional Survey

2021

Impact of reading a scientific journal issue about hypnosis on the beliefs and attitudes towards hypnosis among psychologists

2009

The goal of this study was to examine the influence of receiving scientific information about hypnosis over Spanish psychologists" beliefs and attitudes toward hypnosis. The Valencia Scale on Attitudes and Beliefs toward Hypnosis-Therapist (VSABH-T) was administered to 2434 Spanish psychologists. A retest and a second retest were carried out,and between these testing administrations a monograph issue focused on hypnosis was published in a journal that all members of the Spanish Psychological Association received. Results indicated that psychologists who read this monograph, in general terms, changed their misconceptions about hypnosis for correct beliefs and their negative attitudes toward …

Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy?

2019

Objective: To evaluate interrater agreement in categorizing treatment outcomes and drug responsiveness status according to the International League Against Epilepsy (ILAE) definition of drug-resistant epilepsy. Methods: A total of 1053 adults with focal epilepsy considered by the investigators to meet ILAE criteria for drug resistance were enrolled consecutively at 43 centers and followed up prospectively for 18-34 months. Treatment outcomes for all antiepileptic drugs (AEDs) used up to enrollment (retrospective assessment), and on an AED newly introduced at enrollment, were categorized by individual investigators and by 2 rotating members of a 16-member expert panel (EP) that reviewed the …