Results 41 to 50 of about 5,870 (232)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Myopia and associated pathological complications [PDF]

Ophthalmic and Physiological Optics, 2005
Abstract Besides the direct economic and social burden of myopia, associated ocular complications may lead to substantial visual loss. In several population and clinic‐based cohorts, case–control and cross‐sectional studies, higher risks of posterior subcapsular cataract, cortical and nuclear cataract in myopic patients were reported.
Seang-Mei, Saw, Gus, Gazzard, Edwin Chan, Shih-Yen, Wei-Han, Chua   +3 more
openaire   +2 more sources

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, EarlyView.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen, Jiahe Wei, Jonathan Cedernaes, Christian Benedict, Athanasios Tsanas, Zhi Cao, Xiao Tan   +6 more
wiley   +1 more source

MAM‐Localized MANF Counteracts Microinflammatory Stress to Attenuate Mitochondrial Dysfunction and Cataractogenesis in High Myopia

Advanced Science, EarlyView.
Chronic microinflammation in high myopia suppresses MANF in lens epithelial cells. MANF normally resides within MAMs and promotes ubiquitin‐mediated degradation of the ER Ca2+ pump SERCA2. MANF loss causes pathological SERCA2 accumulation, MAM hyperassembly, and disrupted ER‐to‐mitochondria Ca2+ transfer, leading to mitochondrial failure, oxidative ...
Xin Liu, Hao Li, Ching Kang, Dongling Guo, Shuyu Liu, Jiaqi Meng, Zhiqian Huang, Yu Du, Xiangjia Zhu   +8 more
wiley   +1 more source

Rapid and spontaneous resolution of hemorrhagic macular hole retinal detachment and subretinal hemorrhages in an eye with pathologic myopia: a case report

BMC Ophthalmology, 2020
Background To report a rare case of pathologic myopia in which a choroidal neovascularization (CNV) induced a hemorrhagic macular hole retinal detachment (MHRD), and then both the CNV and MHRD disappeared simultaneously in 5 days.
Taiju Ito, Tae Igarashi-Yokoi, Kosei Shinohara, Takeshi Yoshida, Kyoko Ohno-Matsui   +4 more
doaj   +1 more source

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

Advances of optical coherence tomography in myopia and pathologic myopia [PDF]

Eye, 2016
The natural course of high-axial myopia is variable and the development of pathologic myopia is not fully understood. Advancements in optical coherence tomography (OCT) technology have revealed peculiar intraocular structures in highly myopic eyes and unprecedented pathologies that cause visual impairment. New OCT findings include posterior precortical
D S C, Ng, C Y L, Cheung, F O, Luk, S, Mohamed, M E, Brelen, J C S, Yam, C W, Tsang, T Y Y, Lai   +7 more
openaire   +2 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Machine Learning Approaches in High Myopia: Systematic Review and Meta-Analysis

Journal of Medical Internet Research
BackgroundIn recent years, with the rapid development of machine learning (ML), it has gained widespread attention from researchers in clinical practice.
Huiyi Zuo, Baoyu Huang, Jian He, Liying Fang, Minli Huang   +4 more
doaj   +1 more source

Education-Related Parameters in High Myopia: Adults versus School Children. [PDF]

PLoS ONE, 2016
PURPOSE:Since high myopia in the younger generation may differ etiologically from high myopia in older generations, we examined whether education-related parameters differ between high myopia in today´s school children and high pathological myopia in ...
Jost B Jonas, Liang Xu, Ya Xing Wang, Hong Sheng Bi, Jian Feng Wu, Wen Jun Jiang, Vinay Nangia, Ajit Sinha, Dan Zhu, Yong Tao, Yin Guo, Qi Sheng You, Li Juan Wu, Li Xin Tao, Xiu Hua Guo, Kyoko Ohno-Matsui, Songhomitra Panda-Jonas   +16 more
doaj   +1 more source