Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2021.120031DOI Listing

Publication Analysis

Top Keywords

mutation analysis
4
analysis atp13a2
4
atp13a2 gene
4
gene patients
4
patients msa
4
msa italy
4
mutation
1
atp13a2
1
gene
1
patients
1

Similar Publications

Objectives: In non-small cell lung cancer (NSCLC), non-invasive alternatives to biopsy-dependent driver mutation analysis are needed. We reviewed the effectiveness of radiomics alone or with clinical data and assessed the performance of artificial intelligence (AI) models in predicting oncogene mutation status.

Materials And Methods: A PRISMA-compliant literature review for studies predicting oncogene mutation status in NSCLC patients using radiomics was conducted by a multidisciplinary team.

View Article and Find Full Text PDF

Unlabelled: The study aimed to evaluate fecal calprotectin levels as indicators of intestinal inflammation in children with cystic fibrosis while examining their relationship with clinical signs, genetic mutations, and therapeutic approaches. Due to the limited number of patients with certain mutation types and the heterogeneity of mutations, patients were grouped accordingly for the analysis of fecal calprotectin levels, in relation to genetic mutation categories. This single-centre study at Istanbul Medical Faculty included 45 cystic fibrosis patients (19 girls, 26 boys) aged 1-18 years and 45 age- and sex-matched healthy controls.

View Article and Find Full Text PDF

Context: Testicular adrenal rest tumors (TART) frequently develop and are the most common cause of male infertility in classic congenital adrenal hyperplasia (CAH). Little is known about the natural course.

Objective: We aimed to investigate age of onset, associated factors, and characterize the sonographic natural history of TART in males with classic CAH followed prospectively from childhood to adulthood.

View Article and Find Full Text PDF

[Glomangiomatosis of uncertain malignant potential: a clinicopathological and genetic analysis].

Zhonghua Bing Li Xue Za Zhi

September 2025

Department of Pathology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou 450003, China.

To investigate the clinicopathological features, genetic characteristics, and differential diagnosis of glomangiomatosis with uncertain malignant potential. Two cases of glomangiomatosis with uncertain malignant potential were collected at Henan Provincial People's Hospital from 2013 and 2023. Immunohistochemistry and next generation sequencing (DNA-seq) were used to detect the related protein and gene variation.

View Article and Find Full Text PDF

To explore the clinicopathological and molecular genetic characteristics of anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC), including a rare case with the TPM1-ALK gene subtype. Three cases of ALK-rearranged RCC diagnosed in the Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China from January 2020 to December 2024 were collected. Their clinical pathological and next-generation sequencing (NGS) data were analyzed.

View Article and Find Full Text PDF