Search results for "Cancer"
showing 10 items of 11546 documents
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
1994
We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto-oncogene. These included cases of multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial MTC (FMTC). Mutations at one of 5 cysteines in the extracellular domain were found in 97% of patients with MEN 2A and 86% with FMTC but not in MEN 2B patients or normal controls. 84% of the MEN2A mutations affected codon 634. MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. Our data show a strong correlation between disease phenotype and the nature and position of the RET mutatio…
Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis
2011
Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).We studied a girl with TD who had mutations in two transcription factors involved in thyroid development.Sequencing analysis of candidate genes involved in thyroid gland development revealed a new paternally inherited heterozygous mutation in the NKX2.5 gene (S265R) and a new maternally inherited heterozygous mutation in the PAX8 promoter region (-456CT). Both parents and a brother, who was also heterozygous for both mutations, were phenotypically normal. Immunofluorescence microscopy showed a correct nucl…
Characteristics and patterns of care of endometrial cancer before and during COVID-19 pandemic
2021
Objective Coronavirus disease 2019 (COVID-19) outbreak has correlated with the disruption of screening activities and diagnostic assessments. Endometrial cancer (EC) is one of the most common gynecological malignancies and it is often detected at an early stage, because it frequently produces symptoms. Here, we aim to investigate the impact of COVID-19 outbreak on patterns of presentation and treatment of EC patients. Methods This is a retrospective study involving 54 centers in Italy. We evaluated patterns of presentation and treatment of EC patients before (period 1: March 1, 2019 to February 29, 2020) and during (period 2: April 1, 2020 to March 31, 2021) the COVID-19 outbreak. Results M…
Endothelial Bmx tyrosine kinase activity is essential for myocardial hypertrophy and remodeling
2015
Cardiac hypertrophy accompanies many forms of heart disease, including ischemic disease, hypertension, heart failure, and valvular disease, and it is a strong predictor of increased cardiovascular morbidity and mortality. Deletion of bone marrow kinase in chromosome X (Bmx), an arterial nonreceptor tyrosine kinase, has been shown to inhibit cardiac hypertrophy in mice. This finding raised the possibility of therapeutic use of Bmx tyrosine kinase inhibitors, which we have addressed here by analyzing cardiac hypertrophy in gene-targeted mice deficient in Bmx tyrosine kinase activity. We found that angiotensin II (Ang II)-induced cardiac hypertrophy is significantly reduced in mice deficient i…
Sentinel Lymph Node Analysis in Colorectal Cancer Patients Using One-Step Nucleic Acid Amplification in Combination With Fluorescence and Indocyanine…
2018
Purpose: Analysis of the sentinel lymph node (SLN) in colorectal cancer (CRC) patients was proposed for more accurate staging and tailored lymphadenectomy. The aim of this study was to assess the ability to predict lymph node (LN) involvement through analysis of the SLN with a one-step nucleic acid (OSNA) technique in combination with peritumoral injection of indocyanine green (ICG) and near-infrared (NIR) lymphangiography in CRC patients. Methods: A total of 34 patients were enrolled. Overall, 51 LNs were analyzed with OSNA. LNs of 17 patients (50%) were examined simultaneously with hematoxylin and eosin (H&E) and OSNA. Results: SLN analysis of 17 patients examined with H&E and OSN…
Non-invasive LED-based screening solution for skin cancer
2019
Skin cancer is the most common type of malignant tumors in humans. Early diagnosis is the key to successful surgical treatment. In this work we present a non-invasive screening tool for early stage detection of skin cancer and also for the evaluation of post-operative scars.
Spectral imaging as a tool for the evaluation of skin cancer post-operative scars
2020
Skin cancer is the most common type of cancer in the USA and worldwide.1 An early diagnosis is the key to a successful treatment. Among the skin cancers, the malignant melanoma (MM) accounts for 1% of the cases while it is responsible for the majority of deaths. Basal cell carcinoma (BCC) is the most common form of skin cancer with a very low mortality rate.2 Unfortunately, skin cancer recurrence is a common problem for MM and BCC patients. We propose a post-operative scar screening with non-invasive autofluorescence (AF) imaging to detect an early growth of any residual tissue from the cancer removal procedure. The screening images can serve also as a visual evidence for the post-op patien…
Frailty and risk of complications in head and neck oncologic surgery. Systematic review and dose-response meta-analysis
2021
Background There is emerging evidence that frail individuals present a decreased physiological reserve, decreased ability to maintain homeostasis, and increased vulnerability to stressors. The concept of frailty has become increasingly recognized as a valuable measure in oncological surgical patients, including those with head and neck cancer. Preoperative screening for frailty may provide an individualized risk assessment that can be used by an interdisciplinary team for preoperative counseling and to improve outcomes. The aim of this meta-analysis was to evaluate the relationship between frailty and the risk of major postoperative complications in frail individuals submitted to head and n…
Detection of liver metastases in cancer patients with geographic fatty infiltration of the liver: the added value of contrast-enhanced sonography
2017
Purpose The aim of this study is to assess the role of contrast-enhanced ultrasonography (CEUS) in the detection of liver metastases in cancer patients with geographic liver fatty deposition on greyscale ultrasonography (US). Methods Thirty-seven consecutive cancer patients (24 women and 13 men; age, 33 to 80 years; mean, 58.1 years) with geographic liver fatty deposition, but without any detectable focal liver lesion on greyscale US, underwent sulphur hexafluoride-enhanced US. Two readers reported by consensus the presence, size, and location of any detected lesion. All patients underwent magnetic resonance imaging (MRI) as a confirmatory study. Sensitivity, specificity, positive and negat…
Skip metastases to lateral cervical lymph nodes in differentiated thyroid cancer: a systematic review.
2019
Abstract Papillary thyroid carcinoma is a slow-growing cancer with a generally good prognosis that sometimes have an aggressive behaviour. Metastases to neck lymph nodes is the first step of the diffusion. The central neck compartment is involved most commonly. The ipsilateral lateral neck compartments are usually involved afterwards, and the involvement of the contralateral one is considered a quite rare occurrence. In more rare cases, metastases to lateral neck compartment without central lymph node metastasis (so called “skip metastases”) could be observed. Aim of this literature review study is to analyse the average incidence, pattern and risk factors of this occurrence. This study was…