Results 31 to 40 of about 10,092 (250)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

EFFICACY OF TOPICAL ANAESTHESIA IN REDUCTION OF OCULOCARDIAC REFLEX DURING SQUINT SURGERY

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine the efficacy of Topical Anaesthesiain reduction of oculocardiac reflex incidence and severity in patients undergoing squint surgery under general anaesthesia. Study Design: Quasi-Experimental Study.
Sana Abbas, Omar Zafar, Muhammad Awais, Beenish Abbas, Umer Hayat, Basit Mehmood   +5 more
doaj  

A Novel Sidelobe Reduction Algorithm Based on Two-Dimensional Sidelobe Correction Using D-SVA for Squint SAR Images

Sensors, 2018
Sidelobe reduction is a very primary task for synthetic aperture radar (SAR) images. Various methods have been proposed for broadside SAR, which can suppress the sidelobes effectively while maintaining high image resolution at the same time ...
Min Liu, Zhou Li, Lu Liu
doaj   +1 more source

Density of SMI-32 Immunopositive Neurons in Eye-Specific Layers of Lateral Geniculate Nuclei in Kittens Reared with Monocular Deprivation and Unilateral Convergent Squint

Medical Sciences Forum, 2021
To reveal the dynamics of the development of the morphological changes in lateral geniculate nuclei caused by binocular vision impairment, we study the changes in density of SMI-32 immunopositive neurons in the frontal sections of the LGNd of both ...
Polina Y. Shkorbatova, Vsevolod A. Lyakhovetskii, Svetlana V. Alexeenko   +2 more
doaj   +1 more source

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

An enhanced beamspace channel estimation algorithm for wideband millimeter-wave massive MIMO systems

EURASIP Journal on Advances in Signal Processing, 2022
Accurate beamspace channel estimation is critical in wideband millimeter-wave (mmWave) massive multiple-input multiple-output (MIMO) communication systems.
Yang Liu, Kaipeng Song, Yi Luo, Ding Han, Yinghui Zhang, Minglu Jin   +5 more
doaj   +1 more source

Terahertz Channel Modeling, Estimation and Localization in RIS‐Assisted Systems

Advanced Electronic Materials, EarlyView.
Reconfigurable intelligent surfaces have become a recent intensive research focus. Based on practical applications, channel strategies for RIS‐assisted terahertz wireless communication systems are categorized into three different types: channel modeling, channel estimation, and channel localization.
Hongjing Wang, Weipeng Wang, Xuan Cong, Shiyu Wang, Gao Li, Sen Gong, Lin Huang, Hongxin Zeng, Yaxin Zhang, Ziqiang Yang   +9 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Comparison of psychosocial and emotional consequences of childhood strabismus on the families from rural and urban India

Indian Journal of Ophthalmology, 2009
Purpose : To compare the psychosocial consequences of horizontal comitant strabismus in children between the families of urban and rural India. Materials and Methods : In this cohort study, an eight-question quality-of-life instrument was administered ...
Kothari Mihir, Balankhe Suwarna, Gawade Rinkle, Toshnival Svetlana   +3 more
doaj