Search results for "Incidental findings"
showing 10 items of 24 documents
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.
2020
Abstract With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing. Over 4 years, 2500 patients with an indication for genetic testing underwent a gene cancer panel. If an IF was detected, patients were contacted by a physician/genetic counsellor and invited to take part in a semi-structured interview to assess their understanding of the result, the change in medical care, the psychological impact, and the transmission of results to the f…
Peliosis hepatis: spectrum of imaging findings
2006
OBJECTIVE. It is important to recognize the imaging characteristics of peliosis hepatis because peliotic lesions may mimic several different types of focal hepatic lesions CONCLUSION. We illustrate the spectrum of imaging findings of peliosis hepatis, including sonography, CT, MR, and angiography.
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…
2016
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…
Whole-body MRI in patients with lymphoma: collateral findings.
2016
To assess the incidence of collateral findings detected on whole-body magnetic resonance (WB-MRI) scans performed on patients with lymphoma. 114 patients (65 male; median age 45.2 years, range 15–86) with histologically confirmed lymphoma (47 Hodgkin, 67 Non-Hodgkin) underwent WB-MRI. The collateral findings were classified into three classes, according to their clinical significance, as follows: not or low significant (class 1), moderately or potentially significant (class 2), and significant (class 3). A Chi-square (χ 2) test was performed to assess the statistical significance of differences in the incidence of collateral findings based on age (≤50 and >50 years old), gender and histolog…
Outcome Analysis and Rational Management of Enhancing Lesions Incidentally Detected on Contrast-Enhanced MRI of the Breast
2003
The purpose of our study was to assess the prevalence, characteristics, and clinical consequence of incidentally detected enhancing lesions on MRI of the breast. SUBJECTS AND METHODS. MRI of the breast (1.0-T scanner, dynamic gadolinium-enhanced T1-weighted three-dimensional gradient-echo sequence, double breast coil) was performed on 1273 women for different indications. Enhancing incidental lesions were defined as enhancing lesions on MRIs that were not expected from findings on the previous conventional imaging. They were classified in five assessment categories using a scoring system based on morphologic and kinetic enhancement characteristics. Detection of enhancing incidental lesions …
Potential clinical value of quantitative fluorine-18-fluorodeoxyglucose-PET/computed tomography using a graph-based method analysis in evaluation of …
2019
Objectives To identify the clinical relevance of incidentally detected lesions (IDLs) in the gastrointestinal tract (GIT) with 18F-FDG PET/CT and to assess the potential benefit of using semiquantitative PET measures to discern malignant from benign lesions. Methods Forty-one patients who underwent F-FDG PET/CT scans during the oncologic follow-up, revealing abnormal incidental 18F-FDG accumulations in the GIT were included in this retrospective analysis. Incidental PET/CT findings were correlated with endoscopic and histological findings. Semiquantitative PET values (SUVmax, SUVmean, SULpeak, and TLG) were evaluated by using a new graph-based method. Two sample t-test analysis has been per…
"Pure" large cell neuroendocrine carcinoma of the gallbladder. Report of a case and review of the literature
2016
Primary Neuroendocrine Tumours (NETs) of the gallbladder are rare. Among all NETs of the gallbladder, large cell neuroendocrine carcinoma (LCNEC) is exceedingly rare. In most of the cases LCNECs are combined with other histological components. We reviewed clinical presentation and management of all patients with "pure" LCNEC from published literature since the first case was published in 2000, as well as one patient from our experience. Only 7 cases of "pure" LCNEC has been described in the last 15 years, our case is the eighth. The diagnosis of gallbladder NETs is rarely made preoperatively since the presentation generally consists of non-specific symptoms including upper abdominal pain, d…
Lichen sclerosus Mistaken for Sexual Abuse – Prevention of Victimization
2014
This case report describes the forensic examination of 7 girls aged between 4-11 years with suspected sexual abuse. The children had been reported by local pediatricians, hospital physicians or authorities such as the youth welfare office and police due to mucosal changes in the anogenital area. All children presented with a clearly delimited, porcelain-like white discoloration of the skin in the anal and genital area with atrophic conversion to parchment-like skin. The markedly vulnerable skin exhibited very different manifestations of hemorrhagic dermal and mucosal defects in the area of the labia, the clitoris, the perineum and the perianal region. The hymen was intact in all cases. The …
FOCAL ACTIVE COLITIS AS A PREDICTOR OF INFLAMMATORY BOWEL DISEASE: RESULTS FROM A SINGLE-CENTER EXPERIENCE.
2017
The term focal active colitis (FAC) is conventionally used to describe the presence of isolated cryptitis, characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. To date, only four studies, including one conducted in a pediatric population, have been performed to evaluate the clinical significance of this disease. The aim of this retrospective study on prospectively-collected data is to evaluate the clinical implications of the focal active colitis, since there still remains …
Isolated Endometriosis on the Rectus Abdominis Muscle in Women without a History of Abdominal Surgery: a Rare and Intriguing Finding
2009
We report 2 rare cases of endometriosis on the rectus abdominal muscle diagnosed incidentally during an operation for inguinal hernia repair in women with no surgical history. Two women sought medical attention for a mass found in the pubic abdominal wall. Only 1 woman reported occasional pain. At physical examination in both women, an ovoid swelling in the right pubic area was felt. One woman experienced pain on palpation, and one reported slight discomfort. Ultrasonography demonstrated a heterogeneous hypoechogenic formation with indistinct edges; diagnosis was difficult. Routine clinical and instrumental (pelvic ultrasonography) gynecologic examination in both patients performed shortly …