Results 51 to 60 of about 103,994 (249)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Temperature and humidity-dependent interaction effects on tongue color in diabetic patients: a quantitative analysis and TCM perspective

Frontiers in Endocrinology
ObjectiveTo explore the effects of temperature and relative humidity on the tongue color of diabetic patients with different severity levels and their interactions.MethodsA total of 1,711 participants were included, divided into five groups based on ...
Bingnan Zhang, Naijin Zhang, Huixia Ren, Yonghui Li, Haiyan Du, Tingjing Ren, Jiayu Huang, Hongwu Wang   +7 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Research and Application of Digital Tongue Diagnosis Technology in Tongue Image Characteristics of Different Ethnic Groups

Applied Sciences
Background: Tongue diagnosis is a fundamental diagnostic method in traditional medicine. Studies restricted to single ethnic groups may introduce bias and limit the clinical applicability of digital tongue diagnosis across diverse populations. Objectives:
Shi Liu, Monika Suzuki, Kazusei Akiyama, Yukihiro Nomura, Takao Namiki, Toshiya Nakaguchi   +5 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Application of tongue image characteristics and oral-gut microbiota in predicting pre-diabetes and type 2 diabetes with machine learning

Frontiers in Cellular and Infection Microbiology
BackgroundThis study aimed to characterize the oral and gut microbiota in prediabetes mellitus (Pre-DM) and type 2 diabetes mellitus (T2DM) patients while exploring the association between tongue manifestations and the oral-gut microbiota axis in ...
Jialin Deng, Shixuan Dai, Shi Liu, Liping Tu, Ji Cui, Xiaojuan Hu, Xipeng Qiu, Tao Jiang, Jiatuo Xu   +8 more
doaj   +1 more source

Tonguenet: Accurate Localization and Segmentation for Tongue Images Using Deep Neural Networks

IEEE Access, 2019
Tongue diagnosis is an important way of monitoring human health status in traditional Chinese medicine. As a key step of achieving automatic tongue diagnosis, the major challenges for robust and accurate segmentation and identification of tongue body in ...
Changen Zhou, Haoyi Fan, Zuoyong Li
doaj   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Visceral condition assessment through digital tongue image analysis

Frontiers in Artificial Intelligence
Traditional Chinese medicine (TCM) has long utilized tongue diagnosis as a crucial method for assessing internal visceral condition. This study aims to modernize this ancient practice by developing an automated system for analyzing tongue images in ...
Siu Cheong Ho, Yiliang Chen, Yao Jie Xie, Wing-Fai Yeung, Shu-Cheng Chen, Jing Qin   +5 more
doaj   +1 more source

Point-of-care ultrasound in lingual hematoma

Journal of Medical Ultrasound, 2020
Isolated tongue hematoma following direct trauma to face is not a common finding. It can cause life-threatening airway obstruction and needs prompt diagnosis and early intervention.
Roshan Mathew, Prakash Ranjan Mishra, V T Amrithanand, Sanjeev Bhoi   +3 more
doaj   +1 more source