Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/acem.14011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Polygenic Risk Score Added to Conventional Case Finding to Identify Undiagnosed Chronic Obstructive Pulmonary Disease.
JAMA
January 2025
Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Importance: Chronic obstructive pulmonary disease (COPD) is often undiagnosed. Although genetic risk plays a significant role in COPD susceptibility, its utility in guiding spirometry testing and identifying undiagnosed cases is unclear.
Objective: To determine whether a COPD polygenic risk score (PRS) enhances the identification of undiagnosed COPD beyond a case-finding questionnaire (eg, the Lung Function Questionnaire) using conventional risk factors and respiratory symptoms.
The paradoxical GH response at OGTT does not predict Pasireotide efficacy but matters for glucose metabolism.
J Endocrinol Invest
January 2025
Department of Medicine (DIMED), University of Padova, Padua, Italy.
Purpose: A paradoxical increase in GH after oral glucose load (GH-Par) characterizes about one-third of acromegaly patients and is associated with a better response to first-generation somatostatin receptor ligands (fg-SRLs). Pasireotide is typically considered as a second-/third-line treatment. Here, we investigated the predictive role of GH-Par in pasireotide response and adverse event development.
View Article and Find Full Text PDFEnhanced accuracy and stability in automated intra-pancreatic fat deposition monitoring of type 2 diabetes mellitus using Dixon MRI and deep learning.
Abdom Radiol (NY)
January 2025
Department of Radiology, Shenzhen Traditional Chinese Medicine Hospital (The Fourth Clinical Medical College of Guangzhou University of Chinese Medicine), Shenzhen, China.
Purpose: Intra-pancreatic fat deposition (IPFD) is closely associated with the onset and progression of type 2 diabetes mellitus (T2DM). We aimed to develop an accurate and automated method for assessing IPFD on multi-echo Dixon MRI.
Materials And Methods: In this retrospective study, 534 patients from two centers who underwent upper abdomen MRI and completed multi-echo and double-echo Dixon MRI were included.
RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature.
Am J Med Genet B Neuropsychiatr Genet
January 2025
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
The RYR3 gene encodes a brain-type ryanodine receptor that functions to release calcium from intracellular storage and plays an essential role in calcium signaling. The associations between RYR3 variants and brain disorders remain unknown. We performed whole-exome sequencing in patients with idiopathic (non-lesional) partial epilepsy of unknown etiology.
View Article and Find Full Text PDFAssociation analysis between forkhead box E1 gene and non-syndromic cleft lip with or without cleft palate in Han Chinese population.
Hua Xi Kou Qiang Yi Xue Za Zhi
February 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Objectives: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population.
Methods: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!