Results 41 to 50 of about 1,265,640 (297)

In Vitro Modeling of Natural Killer Cell Cytotoxicity to Inform Personalized ALS Therapeutics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natural killer (NK) cells might contribute to motor neuron death in amyotrophic lateral sclerosis (ALS) through direct cytotoxicity, a process that could be inhibited with the FDA‐approved JAK/STAT pathway inhibitor, tofacitinib. This study aimed to verify that tofacitinib can suppress NK cell cytotoxicity, investigate if immune cell
Benjamin J. Murdock, Jihyun Park, Dae‐Gyu Jang, Bangyao Zhao, Samuel J. Teener, Ian F. Webber‐Davis, Lili Zhao, Eva L. Feldman, Stephen A. Goutman   +8 more
wiley   +1 more source

Social COmmunication Program supported by E-health (SCOPE) for infants and toddlers at elevated likelihood of autism spectrum disorder: study design of a cluster randomized controlled trial

BMC Psychiatry, 2022
Background Although the importance of early detection and early intervention of autism spectrum disorders (ASD) is widely recognized, multiple barriers exist in accessing early intervention services. As an alternative to these barriers, the SCOPE project
Michelle I. J. Snijder, Claudine Dietz, Mieke van Andel, Emilie L. M. Ruiter, Jan K. Buitelaar, Iris J. Oosterling   +5 more
doaj   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Estimating adolescent sleep patterns: parent reports versus adolescent self-report surveys, sleep diaries, and actigraphy

Nature and Science of Sleep, 2013
Michelle A Short,1,2 Michael Gradisar,1 Leon C Lack,1 Helen R Wright,1 Alex Chatburn21School of Psychology, Flinders University, 2Centre for Sleep Research, University of South Australia, Adelaide, South Australia, AustraliaBackground: In research and ...
Short MA, Gradisar M, Lack LC, Wright HR, Chatburn A   +4 more
doaj  

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

The implementability and proximal effects of a transdiagnostic mental health intervention for adolescents (Kort): protocol for a mixed-methods intensive longitudinal study

BMC Health Services Research
Background This protocol describes a study designed to test the implementability and proximal effects of a transdiagnostic mental health intervention for adolescents in school health services.
Thomas Engell, Siri Saugestad Helland, Emily Gabriela Vira, Silje Berg, Line Solheim Kvamme, John Kjøbli, Josefine Bergseth, Inga Brenne, Ragnhild Bang Nes, Espen Røysamb, Line Brager-Larsen, Anette Jeneson, Ane Lønsetteig, Ole-Martin Vangen, Knut-Petter Leinan, Anneli Mellblom   +15 more
doaj   +1 more source

Treatment of multiple traumatized adolescents by enhancing regulation skills and reducing trauma related symptoms: rationale, study design, and methods of randomized controlled trial (the Mars-study)

BMC Psychiatry, 2023
Background There is ongoing debate regarding the treatment of severe and multiple traumatized children and adolescents with post-traumatic stress disorder (PTSD).
Rik Knipschild, Helen Klip, Doenja van Leeuwaarden, Mariken J. R. van Onna, Ramon J. L. Lindauer, Wouter G. Staal, Iva A. E. Bicanic, Ad de Jongh   +7 more
doaj   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han, Brooke A. Keating, Brian S. Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S. Mohammad, Russell C. Dale   +9 more
wiley   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

A Rare Presentation of Hyperphagia and Parasomnias Associated With Chromosome 4q Deletion: A Case Report

Case Reports in Psychiatry
Conclusion: Chromosome 4q deletion-related behaviors parallel those of children with autism spectrum disorder (ASD), and treatment is primarily focused on behavioral interventions. To successfully manage the psychiatric features of this complex condition,
Sarah L. Vaithilingam, Sheldon R. Garrison, Aman Mahajan, Julia F. Kranz, John T. Diener   +4 more
doaj   +1 more source