Results 131 to 140 of about 308,825 (338)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Leveraging Large Language Models for Cost-Effective, Multilingual Depression Detection and Severity Assessment [PDF]

arXiv
Depression is a prevalent mental health disorder that is difficult to detect early due to subjective symptom assessments. Recent advancements in large language models have offered efficient and cost-effective approaches for this objective. In this study, we evaluated the performance of four LLMs in depression detection using clinical interview data. We
arxiv  

Late-life depressive disorder [PDF]

, 1995
Michael E. Lester, Martin Blanchard
openalex   +1 more source

A Molecularly Defined Medullary Network for Control of Respiratory Homeostasis

Advanced Science, EarlyView.
The dynamic interplay between central respiratory chemoreceptors and the respiratory central pattern generator is essential for maintaining stable respiratory rhythm and patterns, particularly during sleep. This study offers novel insights into the anatomical, molecular, and functional characteristics of a medullary network involving the nucleus ...
Tianjiao Deng, Xinyi Jing, Liuqi Shao, Yakun Wang, Congrui Fu, Hongxiao Yu, Xiaoyi Wang, Xue Zhao, Fanrao Kong, Yake Ji, Xiaochen Tian, Wei He, Shangyu Bi, Luo Shi, Hanqiao Wang, Fang Yuan, Sheng Wang   +16 more
wiley   +1 more source

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023
Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse, Tracey Weiler, Elizabeth A. Roth, Sharmila Upadhya, Helga V. Toriello, Ariel J. VanLeuven, John R. Norris, John C. Carey, Andrew K. Sobering   +8 more
wiley   +1 more source

Targeting Senescence with Apigenin Improves Chemotherapeutic Efficacy and Ameliorates Age‐Related Conditions in Mice

Advanced Science, EarlyView.
As a plant‐derived flavonoid, apigenin directly targets PRDX6 to inhibit its PLA2 activity, blocking HSPA8 activation and disturbing its interactions with ATM and p38MAPK in senescent cells. By dampening wide spectrum expression of the SASP, apigenin prevents loss of tissue homeostasis, improves organ function, and alleviates multiple age‐related ...
Hongwei Zhang, Qixia Xu, Zhirui Jiang, Rong Sun, Qun Wang, Sanhong Liu, Xin Luan, Judith Campisi, James L. Kirkland, Weidong Zhang, Yu Sun   +10 more
wiley   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +1 more source

Massage‐Mimicking Nanosheets Mechanically Reorganize Inter‐organelle Contacts to Restore Mitochondrial Functions in Parkinson's Disease

Advanced Science, EarlyView.
Parkinson's disease (PD) progression is aggravated by disrupted inter‐organelle contacts, which are influenced by mechanical forces. NanoMassage, 200 nm PEGylated black phosphorus nanosheets, deliver targeted mechanical stimulation to neural cells.
Tianqi Li, Liwen Huang, Chenxiao Guo, Jing Ren, Xi Chen, Yachu Ke, Zengyu Xun, Wenzhuo Hu, Yilin Qi, Heping Wang, Zhongying Gong, Xing‐Jie Liang, Xue Xue   +12 more
wiley   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

Excessive Daytime Sleepiness in Hypertensive Patients: The Role of Major Depressive Disorder

Diagnostics
There is a special relationship between major depressive disorder and excessive daytime sleepiness. However, given the negative impact of excessive daytime sleepiness on life quality and cardiovascular outcome in hypertensive patients, the objective of ...
Alexandre Younes, Camille Point, Benjamin Wacquier, Jean-Pol Lanquart, Matthieu Hein   +4 more
doaj   +1 more source