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Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Configurational effects of intergenerational support on older adults' depression: an empirical study from CHARLS data.
BMC Public Health
January 2025
School of Medical Humanities and Management, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Background: The influence of different dimensions of intergenerational support on depression in older adults has a configuration effect. Existing researches have only used linear analyses to examine the independent effects of each dimension of intergenerational support on depression in older adults, resulting in the nature of the effects of each dimension of intergenerational support on the presence of depression in older adults remaining highly controversial.
Objective: To explore the synergy and substitution effects (configurational effects) of dimensions of intergenerational support on depression in older adults.
Understanding metastasis mixed-treatment responses through genomic analyses.
NPJ Breast Cancer
January 2025
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Early-stage and metastatic breast cancers (MBC) can exhibit genomic heterogeneity, even within the same individual. Response to therapy in metastatic breast cancer patients with multiple metastases can also be heterogeneous, with different degrees of responsiveness to the same drug(s) across metastatic sites, termed "mixed response," within the same patient. Whether this treatment response variability is influenced by factors such as intrinsic tumor characteristics of metastatic lesions and/or the microenvironment is unknown.
View Article and Find Full Text PDFForest fire probability zonation using dNBR and machine learning models: a case study at the Similipal Biosphere Reserve (SBR), Odisha, India.
Environ Sci Pollut Res Int
January 2025
Department of Geography, Fakir Mohan University, Vyasa Vihar, Nuapadhi, Balasore, 756089, Odisha, India.
Forests play a vital role in environmental balance, supporting biodiversity and contributing to atmospheric purification. However, forest fires threaten this balance, making the identification of forest fire probability (FFP) areas crucial for effective mitigation. This study assesses forest fire trends and susceptibility in the Similipal Biosphere Reserve (SBR) from 2012 to 2023 using four machine learning models-extreme gradient boosting tree (XGBTree), AdaBag, random forest (RF), and gradient boosting machine (GBM).
View Article and Find Full Text PDFEffects of intermittently scanned continuous glucose monitoring on body weight and glycemic variability in overweight individuals with impaired glucose tolerance or mild diabetes: A pilot randomized controlled trial.
Obes Res Clin Pract
January 2025
Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan. Electronic address:
Objective: To investigate the effect of visualizing blood glucose variability by intermittently scanned continuous glucose monitoring (isCGM) on weight reduction in overweight individuals with impaired glucose tolerance (IGT) or mild type 2 diabetes mellitus (T2DM).
Materials And Methods: Forty overweight (BMI, ≥25 kg/m2) individuals with IGT or T2DM (drug naïve; HbA1c, ≤7.0 %) were included in this 24-week randomized controlled trial.
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