Article
Sport Sciences
Todd W. Lyons, Rebekah Mannix, Ken Tang, Keith Owen Yeates, Gurinder Sangha, Emma C. M. Burns, Darcy Beer, Alexander S. Dubrovsky, Isabelle Gagnon, Jocelyn Gravel, Stephen B. Freedman, William Craig, Kathy Boutis, Martin H. Osmond, Gerard Gioia, Roger Zemek
Summary: This study aimed to assess the occurrence and clustering of post-concussive symptoms in children and identify distinct patient phenotypes based on symptom type and severity. The results showed that post-concussive symptoms occur in distinct clusters and five patient groups were identified based on symptom type and severity.
BRITISH JOURNAL OF SPORTS MEDICINE
(2022)
Article
Multidisciplinary Sciences
Zhongfang Yang, Zheng Zhu, Huan Wen, Shuyu Han, Lin Zhang, Yanfen Fu, Yan Hu, Bei Wu
Summary: The study identified 5 subgroups of people living with HIV based on symptom severity, with 3 subgroups having similar severity levels. Profiles 1 and 4 had the smallest sums, while Profiles 2 and 5 had the largest sums. It underscores the importance of providing group-specific symptom management interventions for PWH based on the identified profiles to improve their overall well-being.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Jan H. Doering, Julian Schroeter, Jerome Juengling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Moller, Gaetan Lesca, Yves Chaix, Stefan Koelker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe
Summary: Pathogenic variants in KCNA2 gene can lead to a range of neurological disorders with diverse clinical manifestations, including early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders. Individuals with different types of variants may exhibit distinct clinical features, with carriers of complex and mixed channel dysfunction variants more likely to show early symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Mathematical & Computational Biology
Zixin Shu, Jingjing Wang, Hailong Sun, Ning Xu, Chenxia Lu, Runshun Zhang, Xiaodong Li, Baoyan Liu, Xuezhong Zhou
Summary: Symptom phenotypes have been an important entity in clinical diagnosis and management, with the challenge of non-specificity needing to be addressed for the advancement of symptom science and precision health. Network medicine provides a successful approach for understanding complex disease phenotypes and can be a useful tool for symptom science. By incorporating symptom co-occurrences, high-quality symptom-gene associations, and protein-protein interactions, researchers in this study explored the molecular network patterns of symptom phenotypes and found that the molecular network diversity partially explains the clinical diversity of symptom phenotypes.
NPJ SYSTEMS BIOLOGY AND APPLICATIONS
(2021)
Article
Pediatrics
Han Zhang, Kai Gao, Shuang Wang, Yue-Hua Zhang, Zhi-Xian Yang, Ye Wu, Yu-Wu Jiang
Summary: This study identified seven new cases with pathogenic or likely pathogenic PACS variants, which are related to neurological disorders. Most patients had seizures and intellectual disability/developmental delay. The findings provide important clues for further research on the pathogenic mechanism of neurological disorders related to the PACS gene family.
WORLD JOURNAL OF PEDIATRICS
(2023)
Article
Medicine, Research & Experimental
Anouk W. Vaes, Maarten Van Herck, Qichen Deng, Jeannet M. Delbressine, Leonard A. Jason, Martijn A. Spruit
Summary: This study aimed to identify symptom-based clusters in ME/CFS patients based on the frequency and severity of symptoms. The results showed that ME/CFS patients can be categorized into different symptom clusters with distinct patterns, providing insights for tailored treatment options.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
John E. McGeary, Chelsie E. Benca-Bachman, Victoria A. Risner, Christopher G. Beevers, Brandon E. Gibb, Rohan H. C. Palmer
Summary: Twin studies suggest that genetic differences account for 30-40% of disease liability for depression. This study examines the explanatory power of polygenic scores (PGS) based on depression summary statistics from the UK Biobank in a sample of adults who were extensively phenotyped for depression and related traits. The PGS showed small associations with various depression-related phenotypes, but only the association with suicidal ideation remained significant after correcting for multiple comparisons. These findings provide initial guidance on the expected effect sizes between PGS for depression and related neurocognitive phenotypes.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng
Summary: The X-linked SMC1A gene is important for genome organization and gene regulation. Pathogenic variants in SMC1A can cause Cornelia de Lange syndrome (CdLS) or developmental and epileptic encephalopathy (DEE). Different variants in SMC1A may lead to different phenotypes.
Article
Biochemistry & Molecular Biology
Zhiyong Li, Yinghui Jin, Tianshi Que, Xi-an Zhang, Guozhong Yi, Haojie Zheng, Xi Yuan, Xiaoyan Wang, Haiyan Xu, Jing Nan, Chao Chen, Yuankui Wu, Guanglong Huang
Summary: This study aimed to understand the role of necroptosis in glioblastoma multiforme (GBM) and provide insights for predicting clinical outcomes and gene-targeted therapy. GBM samples were classified into two clusters based on necroptosis score-related genes, and a necroptosis-related gene signature (NRGS) containing 8 genes was developed to predict GBM prognosis. NRGS and age were independent prognostic indicators of GBM, and a nomogram combining them showed better predictive efficacy.
CURRENT MEDICINAL CHEMISTRY
(2023)
Article
Clinical Neurology
S. Langdon, E. Goedhart, M. Inklaar, J. Oosterlaan, M. Konigs
Summary: This study aimed to explore the heterogeneity of persisting symptoms after sport-related concussion (SRC) and found evidence for the existence of symptom subtypes and subgroups of patients with a comparable configuration of co-occurring symptom subtypes. These subgroups differed in pre-injury, personality, and SRC characteristics, suggesting that these factors may contribute to the emergence of specific SRC patient subgroups. The subgroups also differed in the severity of persisting symptoms, highlighting the clinical relevance of SRC subgrouping and the need for targeted prognosis, clinical management, and treatment to optimize recovery.
JOURNAL OF NEUROLOGY
(2023)
Review
Geriatrics & Gerontology
Yan Su, Barbara B. Cochrane, Shih-Yin Yu, Kerryn Reding, Jerald R. Herting, Oleg Zaslavsky
Summary: Fatigue is a common symptom among community-dwelling adults aged 65 years and older. This scoping review provides an overview of fatigue definitions and measures used in this population. The review also identifies fatigue-related factors and consequences, including declines in physical and cognitive functions.
Article
Pharmacology & Pharmacy
Yi-Pan Zhu, Hui-Ting Deng, Xiuyu Wang, Michal A. Rahat, Shupeng Sun, Qiang-Zhe Zhang
Summary: This study identified copper-regulated genes that can be used to determine molecular subtypes and scores of T cell exhaustion in lung adenocarcinoma patients. These subtypes and scores can predict tumor immune microenvironment, TEX characteristics and phenotypes, and can guide treatment strategy selection.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Psychiatry
Carole E. Siegel, Eugene M. Laska, Ziqiang Lin, Mu Xu, Duna Abu-Amara, Michelle K. Jeffers, Meng Qian, Nicholas Milton, Janine D. Flory, Rasha Hammamieh, Bernie J. Daigle, Aarti Gautam, Kelsey R. Dean, Victor Reus, Owen M. Wolkowitz, Synthia H. Mellon, Kerry J. Ressler, Rachel Yehuda, Kai Wang, Leroy Hood, Francis J. Doyle, Marti Jett, Charles R. Marmar
Summary: The study identified two clinical subtypes of PTSD in veterans using machine learning methods and blood biomarkers, showing that one subtype (S2) had more severe symptoms compared to the other subtype (S1) and healthy controls. Multi-omic blood markers were effective in distinguishing between these subtypes and healthy controls, with methylation, micro RNA, and lactate markers showing a biological role in symptom severity.
TRANSLATIONAL PSYCHIATRY
(2021)
Review
Clinical Neurology
Denise Shuk Ting Cheung, Naomi Takemura, Robert Smith, Wing Fai Yeung, Xinyi Xu, Alina Yee Man Ng, Shing Fung Lee, Chia-Chin Lin
Summary: Qigong interventions have significant benefits in improving sleep and fatigue symptoms in cancer patients, with Taichi being the most commonly studied form. However, the effect on depressive symptoms is not significant. The improvement in sleep through qigong is largely mediated by its impact on reducing fatigue, while these benefits may diminish after 3 months.
Article
Endocrinology & Metabolism
Carl P. Walther, Julia S. Benoit, L. Parker Gregg, Nisha Bansal, Vijay Nambi, Harold Feldman, Michael G. Shlipak, Sankar D. Navaneethan
Summary: This study investigated factors associated with HF-type symptoms in adults with CKD and found that BMI was the most important feature, with symptoms worsening at higher and lower BMIs. Heart rate and eGFR were also important cardiac and kidney factors.
INTERNATIONAL JOURNAL OF OBESITY
(2022)
