Objective: To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.
Methods: Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH.
Results: The marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case).
Conclusion: FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2013.04.008 | DOI Listing |
J Neuropsychol
January 2025
Department of Health, Medical and Neuropsychology, Leiden University, Leiden, The Netherlands.
Up to 45% of patients with Parkinson's disease (PD) experience impulse control disorders (ICDs), characterized by a loss of voluntary control over impulses, drives or temptations. This study aimed to investigate whether previously identified genetic and psychiatric risk factors interact towards the development of ICDs in PD. A total of 278 de novo PD patients (ICD-free at enrollment) were selected from the Parkinson's Progression Markers Initiative database.
View Article and Find Full Text PDFNutr Metab (Lond)
January 2025
School of Basic Medical Sciences, Hubei University of Chinese Medicine, Wuhan, Hubei, 430065, China.
Background: This study aims to explore the interplay between body mass index (BMI), neutrophils, triglyceride levels, and uric acid (UA). Understanding the causal correlation between UA and health indicators, specifically its association with the body's inflammatory conditions, is crucial for preventing and managing various diseases.
Methods: A retrospective analysis was conducted on 4,286 cases utilizing the Spearman correlation method.
BMC Genomics
January 2025
Cannabis Innovation and Research Center, Université de Moncton, Moncton, New-Brunswick, Canada.
Background: Due to its previously illicit nature, Cannabis sativa had not fully reaped the benefits of recent innovations in genomics and plant sciences. However, Canada's legalization of C. sativa and products derived from its flower in 2018 triggered significant new demand for robust genotyping tools to assist breeders in meeting consumer demands.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Gastroenterology, the Second Hospital of Dalian Medical University, Dalian, 116021, China.
The constantly emerging evidence indicates a close association between coronary artery disease (CAD) and non-alcoholic fatty liver disease (NAFLD). However, the exact mechanisms underlying their mutual relationship remain undefined. This study aims to explore the common signature genes, potential mechanisms, diagnostic markers, and therapeutic targets for CAD and NAFLD.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Gastrointestinal Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan Province, China.
This study aimed to elucidate the potential causal relationship between 4,907 plasma proteins and the risk of gastric cancer using a two-sample Mendelian randomization approach. We utilized genome-wide association study (GWAS) data to perform two-sample Mendelian randomization analyses, treating the 4,907 plasma proteins as exposure factors and gastric cancer as the outcome. Instrumental variables for plasma proteins were selected based on strongly correlated SNPs identified through data processing and screening of the GWAS data provided by the deCode database.
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