Results 61 to 70 of about 89,765 (308)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Modulating cortical excitability and cortical arousal by pupil self-regulation

Nature Communications
The brain’s arousal state (i.e., central arousal) is regulated by multiple neuromodulatory nuclei in the brainstem and significantly influences high-level cognitive processes.
Marieke Lieve Weijs, Silvia Missura, Weronika Potok-Szybińska, Marc Bächinger, Bianca Badii, Manuel Carro-Domínguez, Nicole Wenderoth, Sarah Nadine Meissner   +7 more
doaj   +1 more source

Digital Eye Strain Monitoring for One-Hour Smartphone Engagement Through Eye Activity Measurement System

Journal of Eye Movement Research
Smartphones have revolutionized our daily lives, becoming portable pocket computers with easy internet access. India, the second-highest smartphone and internet user, experienced a significant rise in smartphone usage between 2013 and 2024.
Bhanu Priya Dandumahanti, Prithvi Krishna Chittoor, Murali Subramaniyam   +2 more
doaj   +1 more source

Autism and the U.K. secondary school experience [PDF]

, 2014
This research investigated the self-reported mainstream school experiences of those diagnosed on the autistic spectrum compared with the typically developing school population.
Audit Commission, Boutot E. A., Costley D., Gayle V. Dillon, George C. L., Greene J., Jean D. M. Underwood, Jones G., Kline P., Lauren J. Freemantle, Miles M. B., Norton A., Pianta R. C., Vygotsky L. S., Warnock M.   +14 more
core   +1 more source

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Failure to regulate: counterproductive recruitment of top-down prefrontal-subcortical circuitry in major depression [PDF]

, 2007
Although depressed mood is a normal occurrence in response to adversity in all individuals, what distinguishes those who are vulnerable to major depressive disorder (MDD) is their inability to effectively regulate negative mood when it arises ...
Davidson, Richard J., Johnstone, Tom, Kalin, Ned H., Urry, Heather L., Van Reekum, Carina Marije   +4 more
core   +1 more source

The Role of Invasive Procedures in the Treatment of Complicated Gastrointestinal Graft‐Versus‐Host Disease in Pediatric Patients

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Gastrointestinal graft‐versus‐host disease (GI GVHD) following hematopoietic stem cell transplant is typically managed with medical therapy, but surgery and angioembolization may be warranted in selected cases with life‐threatening complications.
Gaia Brunetti, Giorgio Persano, Chiara Grimaldi, Pier Luigi Di Paolo, Carmen Malaspina, Francesco Quagliarella, Valerio Balassone, Anna Chiara Iolanda Contini, Gian Luigi Natali, Rita Alaggio, Ivan Pietro Aloi, Tamara Caldaro, Alessandro Crocoli   +12 more
wiley   +1 more source

Pupil size is linked to opposite signal fluctuations between cortical BOLD and ventricular CSF

NeuroImage
Pupillometry has been used as a biomarker of activity in the Locus Coeruleus (LC), a noradrenergic nucleus crucial for arousal. As the LC has been implicated in modulating cerebrospinal fluid (CSF) flow, here we investigated the associations of pupil ...
Sukru Baris Demiral, Helene Benveniste, Nora D. Volkow   +2 more
doaj   +1 more source

Disease Classification Based on Synthesis of Multiple Long Short-Term Memory Classifiers Corresponding to Eye Movement Features

IEEE Access, 2020
Medical research confirms that eye movement abnormalities are related to a variety of psychological activities, mental disorders and physical diseases. However, as the specific manifestations of various diseases in terms of eye movement disorders remain ...
Yuxing Mao, Yinghong He, Lumei Liu, Xueshuo Chen   +3 more
doaj   +1 more source

Gaze-contingent flicker pupil perimetry detects scotomas in patients with cerebral visual impairments or glaucoma [PDF]

, 2018
The pupillary light reflex is weaker for stimuli presented inside as compared to outside absolute scotomas. Pupillograph perimetry could thus be an objective measure of impaired visual processing.
Bergsma, Douwe P, Dumoulin, Serge O, Fracasso, Alessio, Naber, Marnix, Porro, Giorgio L, Roelofzen, Carlien, van Genderen, Mies   +6 more
core   +3 more sources