Results 101 to 110 of about 71,528 (269)

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Diagnosis of latent forms of labyrinthine affections [PDF]

Features and significance of individual vestibular symptoms for the diagnosis of latent labyrinthitis and limited forms of labyrinthine affections offering considerable difficulties are discussed. Vestibular symptoms are indistinct.
Vaslilyeva, V. P.
core   +1 more source

Balancer‐assisted sling recovery of critical equine patients after general anaesthesia

Equine Veterinary Education, EarlyView.
Summary Background Traditional sling‐based systems to assist horses during recovery from general anaesthesia (GA) could be improved by adding a balancer to obtain a dynamic weight relief. Objectives To evaluate the applicability of a novel balancer‐assisted sling system during recovery of horses after GA and to report initial experiences with high‐risk
J. Kuhlmann, C. Spadavecchia, C. Koch
wiley   +1 more source

Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet, Clément Pruvot, Zoé Manssens, Wadih Abou‐Chahla, Sébastien Buche   +4 more
wiley   +1 more source

Quantified assessment of 3D nystagmus in BPPV: practical considerations

Frontiers in Neurology
Patients with posterior canal benign paroxysmal positional vertigo (BPPV) have a characteristic response of torsional-vertical nystagmus after a Dix-Hallpike maneuver.
Kamran Barin, Michelle R. Petrak, Michelle R. Petrak, Amy R. Cassidy, Susan L. Whitney   +4 more
doaj   +1 more source

Two devices for analysis of nystagmus [PDF]

Electromechanical devices for measuring vestibular ...
Guedry, F. E., Jr., Turnipseed, G. T.
core   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source

Visual suppression of the vestibulo-ocular reflex during space flight [PDF]

Visual suppression of the vestibulo-ocular reflex was studied in 16 subjects on 4 Space Shuttle missions. Eye movements were recorded by electro-oculography while subjects fixated a head mounted target during active sinusoidal head oscillation at 0.3 Hz.
Moore, Thomas P., Pool, Sam L., Thornton, William E., Uri, John J.   +3 more
core   +1 more source

The Role of Early Visual Experience in Cross‐Signal Dependency Detection

Developmental Science, Volume 29, Issue 4, July 2026.
ABSTRACT Temporal co‐occurrence of two sensory signals is a powerful indicator of their potential association. Detection of such coincidences is believed to be a key contributor to perceptual organization and a primary objective of cortical computations. Here, we investigate whether the development of this ability requires early sensory experience.
Priti Gupta, Lukas Vogelsang, Marin Vogelsang, Neil Khemani, Manvi Jain, Naviya Lall, Dhun Verma, Chetan Ralekar, Suma Ganesh, Pawan Sinha   +9 more
wiley   +1 more source