Results 71 to 80 of about 877,343 (248)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Natural excretion of a metallic susceptor originating from an ingested heated tobacco stick

Clinical Case Reports
Key Clinical Message Clinicians should not only consider the presence of metallic foreign bodies within the digestive tract but also contemplate the possibility of nicotine poisoning during the diagnostic process. Abstract When clinicians encounter cases
Hirohito Doi, Toshihiko Kakiuchi, Masafumi Nishino, Masato Yoshiura   +3 more
doaj   +1 more source

Pediatric Patients with Osteomyelitis and/or Septic Joint Undergoing Surgical Debridement Have Equivalent Short-Term Outcomes with or without Preoperative MRI

Children
The purpose of this study was to determine if short-term outcomes differed for pediatric patients with suspected musculoskeletal infection with or without a preoperative MRI.
E. Graham Englert, Collin L. Braithwaite, Maria E. Aguirre-Flores, Aaron W. Lam, Mohamed Sarraj, Abigail Kumagai, E. Dimitra Bednar, Adam M. Gordon, Ibrahim Salama, Jacob Keeley, Indu Pathak, Waleed Kishta, Ahmed M. Thabet, Amr Abdelgawad, Ehab Saleh   +14 more
doaj   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Wheelchair Dance: Exploring a Novel Approach to Enhance Wheelchair Skills, Belongingness and Inclusion among Children with Mobility Limitations

Disabilities
Playful approaches are recommended to enhance wheelchair skills training with young people. Inclusive dance allows participants to discover motor skills and improve social participation.
Jade Berthiaume, Claire Cherriere, Béatrice Ouellet, Laurence Éthier, Paula W. Rushton, Martin Lemay, Krista L. Best   +6 more
doaj   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Abstracts of the 2nd International Congress of Contemporary Pediatric Dentistry (ICCPD 2022)

Contemporary Pediatric Dentistry, 2022
Contemporary Pediatric Dentistry
doaj   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Bernard–Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review

Hematology
Background: Bernard–Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets.Methods: For more than 6 years, we ...
Senlin Zhang, Jing Ling, Kai Cui, Shihong Zhan, Jiajia Zheng, Wenyi Wang, Junjie Fan, Shaoyan Hu   +7 more
doaj   +1 more source

Effectiveness and Safety of Baricitinib for Juvenile Idiopathic Arthritis–Associated Uveitis or Chronic Anterior Antinuclear Antibody–Positive Uveitis

Arthritis Care &Research, EarlyView.
Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan, Catherine M. Guly, Gabriele Simonini, Stuart Y. Keller, Priyanka Sen, Thorsten Holzkaemper, Joana Araújo, Pierre Quartier   +7 more
wiley   +1 more source