Results 191 to 200 of about 2,689,938 (292)

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Cholesterol Quantification in Brain and Spinal Cord During Development, Demyelination, and Remyelination. [PDF]

Molecules
Dedunupitiya D, Go EP, Witte T, Elliott A, Mohotti NS, Williams JM, Kobayashi H, Binjawadagi R, Desaire H, Hartley MD.   +9 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Diagnostic Utility of Novel and Established Spinal MRI Signs in AQP4-IgG-Seropositive NMOSD Myelitis. [PDF]

Neurology
Sukhonpanich N, Ngamsombat C, Buathong S, Thaneerat N, Tharacheewin D, Siritho S, Ongphichetmetha T, Prayoonwiwat N, Rattanathamsakul N, Jitprapaikulsan J.   +9 more
europepmc   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Prenatal findings and postnatal outcomes in cases of closed spinal dysraphism: 10-year two-center cohort study. [PDF]

Ultrasound Obstet Gynecol
Athiel Y, Van Den Eede E, De Saint Denis T, Blondiaux E, Dhombres F, Maurice P, Dugas A, Simonnet H, Guilbaud L, Garel C, Van Der Merwe H, Aertsen M, Devloo P, Devlieger R, Deprest J, Jouannic JM.   +15 more
europepmc   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

H3K27-altered diffuse midline glioma of the adult thoracic spinal cord: A case report with literature review and clinical insights. [PDF]

Surg Neurol Int
Alioglu HA, Yavuz M, Alomari O, Adem Ceylan MD, Silav ZK, Güdük M.   +5 more
europepmc   +1 more source

General Practice Utilisation for Adults With Neurological Disability Who Are National Disability Insurance Scheme Participants in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Most adults with neurological disability rely on general practitioners for managing and preventing health complications. This study analysed patterns of general practice service utilisation among National Disability Insurance Scheme (NDIS) participants with neurological disability and compared these with people who are not NDIS participants ...
Stacey Oliver, Robin A. Ramme, Avinash Kondiboyina, Karina Gardner, Adam McLeod, Stephen Weeding, Christopher Pearce, Jacinta Douglas, Di Winkler   +8 more
wiley   +1 more source