Absence of NRAS Mutations in Ampulla of Vater Carcinoma

2021 ◽  
Vol 9 (2) ◽  
pp. 124-129
Author(s):  
Kaavya Jayaramayya ◽  
◽  
Lakshmanan Anand ◽  
Vellingiri Balachandar ◽  
Mahalaxmi Iyer ◽  
...  
Keyword(s):  
Cancer Progression ◽  
Treatment Options ◽  
Ampulla Of Vater ◽  
Diagnostic Tools ◽  
Tumor Subtype ◽  
Gi Tract ◽  
Blood Samples ◽  
Advanced Stages ◽  
Molecular Landscape ◽  
Early Diagnostic

Ampulla of vater carcinomas (AVCs) are malignancies that occur in the gastrointestinal (GI) tract. AVCs mainly remain asymptomatic until the more advanced stages of tumor, making it imperative to identify early diagnostic tools. In addition to this, it is pertinent to also understand the factors that may contribute to cancer progression. In this study, we have collected paraffin embedded tissues from 38 AVC patients and blood samples from 38 controls to study the mutational profile of NRAS in AVCs. In addition to this, general characteristics such as tumor size, stage, differentiation and tumor subtype were taken into account in this study. The lifestyle factors were obtained from the patients and the controls were matched accordingly. We observed no mutations in the NRAS gene in our cohort. Studies with a larger cohort are necessary to better understand the mutational profile of AVCs to provide better therapeutic and treatment options. More research is essential in this area to pinpoint the molecular landscape of AVCs

scholarly journals Targeting Epigenetic Regulators for Endometrial Cancer Therapy: Its Molecular Biology and Potential Clinical Applications

2021 ◽  
Vol 22 (5) ◽  
pp. 2305
Author(s):  
Futaba Inoue ◽  
Kenbun Sone ◽  
Yusuke Toyohara ◽  
Yu Takahashi ◽  
Asako Kukita ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Endometrial Cancer ◽  
Histone Modification ◽  
Treatment Options ◽  
Diagnostic Tools ◽  
Epigenetic Changes ◽  
Non Coding Rna ◽  
Advanced Stages ◽  
Epigenetic Regulators

Endometrial cancer is one of the most frequently diagnosed gynecological malignancies worldwide. However, its prognosis in advanced stages is poor, and there are only few available treatment options when it recurs. Epigenetic changes in gene function, such as DNA methylation, histone modification, and non-coding RNA, have been studied for the last two decades. Epigenetic dysregulation is often reported in the development and progression of various cancers. Recently, epigenetic changes in endometrial cancer have also been discussed. In this review, we give the main points of the role of DNA methylation and histone modification in endometrial cancer, the diagnostic tools to determine these modifications, and inhibitors targeting epigenetic regulators that are currently in preclinical studies and clinical trials.

scholarly journals Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 479
Author(s):  
Elizabeth L. Lieu ◽  
Neil Kelekar ◽  
Pratibha Bhalla ◽  
Jiyeon Kim
Keyword(s):  
Metabolic Disease ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Treatment Options ◽  
Biochemical Properties ◽  
Biological Molecules ◽  
Diagnostic Tools ◽  
Inborn Errors ◽  
Mannose Metabolism

History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common foods and onto kitchen tables, is sucrose, which is made up of glucose and fructose dimers. While sugar is commonly associated with flavor, there is a myriad of biochemical properties that explain how sugars as biological molecules function in physiological contexts. Substantial research and reviews have been done on the role of glucose in disease. This review aims to describe the role of its isomers, fructose and mannose, in the context of inborn errors of metabolism and other metabolic diseases, such as cancer. While structurally similar, fructose and mannose give rise to very differing biochemical properties and understanding these differences will guide the development of more effective therapies for metabolic disease. We will discuss pathophysiology linked to perturbations in fructose and mannose metabolism, diagnostic tools, and treatment options of the diseases.

To determine correlation of inter reader variability in sum of diameters using RECIST 1.1 with end point assessment in lung cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e13557-e13557
Author(s):  
Manish Sharma ◽  
Anitha Singareddy ◽  
Surabhi Bajpai ◽  
Jayant Narang ◽  
Michael O'Connor ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Cancer Progression ◽  
Complete Response ◽  
Target Lesion ◽  
Tumor Burden ◽  
Diagnostic Tools ◽  
P Value ◽  
Patient Response ◽  
End Point ◽  
Recist 1.1

e13557 Background: Lung cancer is the leading cause of cancer death in the world including more than 160,000 deaths in the US. The purpose of the study was to determine whether inter reader variability in Sum of Diameters (SOD) of tumor burden has any correlation with variability in end point assessment in lung cancer progression. RECIST 1.1 is based on the SOD of target lesions seen on imaging studies. Response criteria for evaluation of target lesions include - Complete response (CR), Partial response (PR), Progressive disease (PD) and Stable disease (SD). The key determinant of patient response is based on Target Lesion response which in turn is determined by SOD. Inter reader variability study plays an important role in the development of reliable diagnostic tools and understanding of imaging outcomes given the confounding factors like effusion, atelectasis and consolidation in lung cancer that affect Target Lesion selection. Methods: Retrospective analysis of 470 patients was carried out using RECIST 1.1. Double read with adjudication is the preferred read model for submission studies where images are read by two independent reviewers blinded to treatment allocation. As per RECIST 1.1, lesions were measured in the longest diameter for non-nodal and short axis for nodal lesions. This was followed by the calculation of SOD for total tumor burden. If these two primary reviewers disagree, then a third radiologist, the “adjudicator”, reviews the assessments performed by the first two radiologists and selects between the more accurate one. For further analysis, patients were divided into 2 groups, the one with no adjudication i.e. agreement between both readers and the second group with adjudication i.e. disagreement between both readers and ANOVA was used to perform analysis of Variance. Results: Of 470 patients, 332 patients with disagreement were adjudicated, while there was agreement on 138 patients assessments between both readers. SOD of baseline visits for all patients was assessed using ANOVA - single factor with following results: F ratio of 4.76 for Disagreement group was more than F crit (3.86) with P-value 0.03, while for Agreement group F value was less than F crit. Conclusions: There is a direct relationship of variability in SOD at baseline between two readers to the possibility of disagreement in their end point assessment. Additional rules around selection and measurement of Target Lesions should be proposed in protocol to reduce variability and improve endpoint assessment outcomes.[Table: see text]

Stressful Life Events as a Trigger for Autoimmune Disease? A Case Report on Mucous Membrane Pemphigoid

Dental Update ◽  
2021 ◽  
Vol 48 (5) ◽  
pp. 379-382
Author(s):  
Robert Devine ◽  
Melanie Simms
Keyword(s):  
Mucous Membrane ◽  
Patient Outcomes ◽  
Stressful Life Events ◽  
Treatment Options ◽  
Rare Condition ◽  
Corticosteroid Treatment ◽  
Diagnostic Tools ◽  
Mucous Membrane Pemphigoid ◽  
Acute Presentation

This case discusses the acute presentation of a patient with mucous membrane pemphigoid to an emergency dental department. Mucous membrane pemphigoid is a rare condition, but its presentation can be severe and concerning for both the patient and clinician. The case presents the manifestations of florid desquamative gingivitis and extensive mucosal erosions due to burst bullae. We discuss the possible causes of the condition in this patient, likely to be the stress of recent cardiac surgery, as well as exploring the efficacy of diagnostic tools, treatment options and adverse effects of corticosteroid treatment. CPD/Clinical Relevance: Correct and timely diagnosis of vesiculobullous disorders has notable impacts on patient outcomes and quality of life.

scholarly journals Circulating Biomarkers of Diabetic Retinopathy: An Overview Based on Physiopathology

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Olga Simó-Servat ◽  
Rafael Simó ◽  
Cristina Hernández
Keyword(s):  
Diabetic Retinopathy ◽  
Therapeutic Strategy ◽  
New Drugs ◽  
Diagnostic Tools ◽  
Diabetic Patients ◽  
Circulating Biomarkers ◽  
Pharmacological Treatments ◽  
Early Stages ◽  
Working Age ◽  
Advanced Stages

Diabetic retinopathy (DR) is the main cause of working-age adult-onset blindness. The currently available treatments for DR are applicable only at advanced stages of the disease and are associated with significant adverse effects. In early stages of DR the only therapeutic strategy that physicians can offer is a tight control of the risk factors for DR. Therefore, new pharmacological treatments for these early stages of the disease are required. In order to develop therapeutic strategies for early stages of DR new diagnostic tools are urgently needed. In this regard, circulating biomarkers could be useful to detect early disease, to identify those diabetic patients most prone to progressive worsening who ought to be followed up more often and who could obtain the most benefit from these therapies, and to monitor the effectiveness of new drugs for DR before more advanced DR stages have been reached. Research of biomarkers for DR has been mainly based on the pathogenic mechanism involved in the development of DR (i.e., AGEs, oxidative stress, endothelial dysfunction, inflammation, and proangiogenic factors). This review focuses on circulating biomarkers at both early and advanced stages that could be relevant for the prediction or detection of DR.

scholarly journals PERIOPERATIVE CHEMOTHERAPY IN LOCALLY ADVANCED GASTRIC CANCER

2013 ◽  
Vol 50 (3) ◽  
pp. 236-242 ◽  
Author(s):  
Thales Paulo BATISTA ◽  
Candice Amorim de Araujo Lima SANTOS ◽  
Gustavo Fernandes Godoy ALMEIDA
Keyword(s):  
Gastric Cancer ◽  
Therapeutic Strategy ◽  
Multimodal Therapy ◽  
Standard Treatment ◽  
Treatment Options ◽  
Locally Advanced ◽  
Special Focus ◽  
Perioperative Chemotherapy ◽  
Locally Advanced Gastric Cancer ◽  
Advanced Stages

Gastric cancer is one of the most common cancers and a main cause of cancer-related death worldwide, since the majority of patients suffering of this malignancy are usually faced with a poor prognosis due to diagnosis at later stages. In order to improve treatment outcomes, the association of surgery with chemo and/or radiotherapy (multimodal therapy) has become the standard treatment for locally advanced stages. However, despite several treatment options currently available for management of these tumors, perioperative chemotherapy has been mainly accepted for the comprehensive therapeutic strategy including an appropriated D2-gastrectomy. This manuscript presents a (nonsystematic) critical review about the use of perioperative chemotherapy, with a special focus on the drugs delivery.

scholarly journals Extracellular Glycosaminoglycans in Management of Primary Hepatocellular Carcinoma Rather than Alpha Fetoprotein

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Abdel-Hamid NM ◽  
◽  
Abdel-Fattah SM ◽  
Nazmy MH ◽  
Mahmoud AS ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Hepatocellular Carcinoma ◽  
Extracellular Matrix ◽  
Cancer Progression ◽  
Cost Effective ◽  
Diagnostic Value ◽  
Primary Hepatocellular Carcinoma ◽  
Diagnostic Tools ◽  
Total Sialic Acid ◽  
Design And Methods

Objectives: Extracellular matrix (ECM) is an essential player at various stages of carcinogenesis. Current study aims to evaluate diagnostic value of components of ECM, released to the serum, i.e. total glycosaminoglycans (TGAGs), total sialic acid (TSA) and free glucosamine (FGA) in primary HCC patients solely or confounded by other conditions (i.e. diabetes mellitus (DM), hepatitis C virus (HCV) or bilharziasis (B). Design and Methods: Our study was conducted upon 40 HCC patients: 32 (80%) males, 8 (20%) females, among these samples, patients with ascites, single/or multiple HCC lesions, as shown in demographic Table. Results: Liver and renal indices were significantly disturbed in HCC patients. Significant elevations of AFP, TGAGS and FGA, non-significant increases in TSA in HCC patients compared to normal control. These parameters except AFP showed significant persistent higher levels during cancer progression. AFP showed irrelevant changes to the stages of HCC lesion. HCC patients with HCV, DM or B showed significantly higher levels of AFP than with HCC solely. Both TGAGs and FGA showed the highest diagnostic accuracy over AFP, but TSA showed the lowest value. Conclusion: TGAGs and FGA may be regarded as cost-effective and more accurate diagnostic tools during primary HCC progression, whether solely, or commixed by other diseases.

scholarly journals Molecular Diagnostics and Biological Safety 2021. COVID-19: Epidemiology, Diagnosis and Prophylaxis: Conference Abstracts

2021 ◽  
Keyword(s):  
Clinical Features ◽  
Molecular Diagnostics ◽  
Distress Syndrome ◽  
Treatment Options ◽  
Educational Institutions ◽  
Diagnostic Tools ◽  
Post Vaccination ◽  
Medical Practitioners ◽  
Coronavirus Infection ◽  
Post Infectious

The pandemic of the new coronavirus infection has spread to more than 200 countries. To date, over 130 million people have been affected and over 2.8 million have died. COVID-19 infection has a number of specific epidemiological and clinical features. In severe cases of the disease, acute respiratory distress syndrome develops, which is often fatal. The SARS-CoV-2 virus is susceptible to mutations, which alarms the scientific community all over the world. Therefore, scientific research in the field of COVID-19, the search for new diagnostic tools, methods for nonspecific and specific prevention and treatment are central topics today.This collection contains abstracts submitted by leading experts in the field of epidemiology, clinics of infectious diseases, molecular diagnostics, young researchers and medical practitioners. Published materials contain data on the methods of molecular diagnostics of COVID-19, se-quencing of the SARS-CoV-2 genome, epidemiology of new coronavirus infection, immuno-pathogenesis of COVID-19, clinical features of infection and treatment options, as well as the study of post-infectious and post-vaccination immunity and examples of complex measures for nonspecific prevention of COVID-19.The materials of the Congress are of interest to doctors and researchers of all specialties, teachers of secondary and higher educational institutions.

scholarly journals From genomics to the clinic: biological and translational insights of mutant IDH1/2 in glioma

2013 ◽  
Vol 34 (2) ◽  
pp. E2 ◽  
Author(s):  
Gavin P. Dunn ◽  
Ovidiu C. Andronesi ◽  
Daniel P. Cahill
Keyword(s):  
Hypoxia Inducible Factor ◽  
Diagnostic Tools ◽  
Low Grade ◽  
Isocitrate Dehydrogenase 1 ◽  
Treatment Algorithms ◽  
Recurrent Mutations ◽  
Molecular Landscape ◽  
Mutant Idh1 ◽  
And Function

The characterization of the genomic alterations across all human cancers is changing the way that malignant disease is defined and treated. This paradigm is extending to glioma, where the discovery of recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) gene has shed new light on the molecular landscape in glioma and other IDH-mutant cancers. The IDH1 mutations are present in the vast majority of low-grade gliomas and secondary glioblastomas. Rapidly emerging work on the consequences of mutant IDH1 protein expression suggests that its neomorphic enzymatic activity catalyzing the production of the oncometabolite 2-hydroxyglutarate influences a range of cellular programs that affect the epigenome, transcriptional programs, hypoxia-inducible factor biology, and development. In the brief time since its discovery, knowledge of the IDH mutation status has had significant translational implications, and diagnostic tools are being used to monitor its expression and function. The concept of IDH1-mutant versus IDH1-wild type will become a critical early distinction in diagnostic and treatment algorithms.

scholarly journals Practical guidance for the management of iron deficiency in patients with inflammatory bowel disease

2018 ◽  
Vol 11 ◽  
pp. 175628481876907 ◽  
Author(s):  
Dorothea Niepel ◽  
Thomas Klag ◽  
Nisar P. Malek ◽  
Jan Wehkamp
Keyword(s):  
Iron Deficiency ◽  
Treatment Options ◽  
Intravenous Iron ◽  
Underlying Disease ◽  
Deficiency Anemia ◽  
Diagnostic Tools ◽  
Systemic Complications ◽  
Need For Treatment ◽  
Inflammatory Bowel ◽  
Practical Guidance

Iron deficiency or iron deficiency anemia (IDA) are some of the most common systemic complications of inflammatory bowel diseases (IBD). Symptoms such as fatigue, reduced ability to concentrate and reduced exercise tolerance can mimic common symptoms of IBD and can therefore easily be overseen. Furthermore, clinicians tend to see mild to moderate anemia as an inevitable accompaniment of IBD that is sufficiently explained by the underlying disease and does not require further workup. But in contrast to these clinical routines, current guidelines recommend that any degree of anemia in patients with IBD should be further evaluated and treated. Multiple studies have shown that anemia is a main factor for decreased quality of life (QoL) in patients with IBD. Correction of anemia, however, can significantly improve the QoL of patients with IBD. It is therefore recommended that every patient with IBD is regularly screened for iron deficiency and anemia. If detected, appropriate workup and treatment should be initiated. Over the last years, a number of new diagnostic tools and treatment options have been developed. Multiple studies have demonstrated the safety of newer formulations of intravenous iron in patients with IBD and have compared oral and intravenous iron in various situations. Treatment recommendations have changed and new evidence-based guidelines were developed. However, to date these guidelines are still not widely implemented in clinical practice. The aim of this review is to draw attention to the need for treatment for every level of anemia in patients with IBD and to provide some practical guidance for screening, diagnostics, treatment and follow up of IDA in patients with IBD following current international guidelines.

Sign in / Sign up

Export Citation Format

Share Document