Mutations in LKB1 lead to Peutz-Jeghers syndrome (PJS). However, only a subset of PJS patients harbours LKB1 mutations. We performed a mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in 28 LKB1-negative PJS patients. No disease-causing mutations were detected in the studied genes in PJS patients from different European populations.
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http://dx.doi.org/10.1038/sj.bjc.6602454 | DOI Listing |
Prog Orthod
January 2025
Department of Orthodontics, School and Hospital of Stomatology, China Medical University, Shenyang, 110002, P.R. China.
Objective: This study aimed to evaluate the positional and morphological changes in the temporomandibular joint (TMJ) in adult patients with skeletal Class I malocclusion treated with fixed orthodontic appliances (FAs) and clear aligners (CAs), both with and without premolar extractions.
Methods: This retrospective study involved 120 adult patients divided into non-extraction and extraction groups, each further subdivided equally into those treated with FAs and CAs. Cone beam computed tomography (CBCT) was used to assess the TMJ measurements before (T0) and after treatment (T1).
Int J Surg Pathol
January 2025
Department of Pathology, the Second Hospital of Jilin University, Changchun, Jilin, China.
adnexal tumors are recently named tumors of the female adnexal region, associated with Peutz-Jeghers syndrome (PJS). There is a lack of studies on the clinical phenotypes of PJS concerning the pathology and molecular characteristics of adnexal tumors. We searched for 781 relevant studies through PubMed and Web of Science, and preliminary statistical and grouping comparisons were made using the screened study data combined with our patient.
View Article and Find Full Text PDFAlzheimers Res Ther
January 2025
School of Optometry, University of Alabama at Birmingham, Birmingham, AL, US.
Background: The potential diagnostic value of plasma amyloidogenic beta residue 42/40 ratio (Aβ42/Aβ40 ratio), neurofilament light (NfL), tau phosphorylated at threonine-181 (p-tau181), and threonine-217 (p-tau217) has been extensively discussed in the literature. We have also previously described the association between retinal biomarkers and preclinical Alzheimer's disease (AD). The goal of this study was to evaluate the association, and a multimodal model of, retinal and plasma biomarkers for detection of preclinical AD.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
January 2025
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Objectives: Patients with Peutz-Jeghers syndrome (PJS) require continuous medical management throughout their lives. However, few case series regarding the clinical course, polyp surveillance, and treatment, including endoscopic ischemic polypectomy (EIP) for pediatric patients with PJS, were reported. We analyzed the current status and clinical course of pediatric patients with PJS under the management of our institute, including those treated with EIP.
View Article and Find Full Text PDFNat Rev Cardiol
January 2025
Department of Biomedical Sciences, and Department of Medicine, Cedars-Sinai Medical Center, Biomedical Imaging Research Institute, Los Angeles, CA, USA.
Computed tomography coronary angiography provides a non-invasive evaluation of coronary artery disease that includes phenotyping of atherosclerotic plaques and the surrounding perivascular adipose tissue (PVAT). Image analysis techniques have been developed to quantify atherosclerotic plaque burden and morphology as well as the associated PVAT attenuation, and emerging radiomic approaches can add further contextual information. PVAT attenuation might provide a novel measure of vascular health that could be indicative of the pathogenetic processes implicated in atherosclerosis such as inflammation, fibrosis or increased vascularity.
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