Results 161 to 170 of about 206,338 (244)

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Maribavir for the Management of a Complex Cytomegalovirus (CMV) Infection After Liver Transplantation: Refractoriness and Intolerance to Standard Therapies in the Intensive Care Unit. [PDF]

Cureus
Santos L, Inácio H, Cochicho Ramalho A, Rodeia SC, Germano N.   +4 more
europepmc   +1 more source

AR: An Artificial Intelligence‐Driven Fluorescent Reporter System for Gene Editing Evaluation

Animal Research and One Health, EarlyView.
The AR platform integrates an enhanced dual‐fluorescence reporter with the EasyReporter AI pipeline for efficient gene‐editing evaluation. It enables automated, high‐throughput quantification and intelligent interpretation across diverse gene‐editing systems and cellular contexts. The gene‐editing elements were created with BioGDP.com.
Mingming Xue, Hanhan Li, Yuwan Zheng, Hezhen Yang, Pengsheng Dong, Hang Jiao, Junhao Zhang, Genyuan Li, Ziyao Zhu, Hongjiang Li, Miao Zhang, Zhiquan Wang, Baosheng Feng, Qunting Lin, Guoying Hua, Kejun Wang, Wenting Li, Xiangtao Kang   +17 more
wiley   +1 more source

Severe Mpox-Associated Proctocolitis Mimicking Opportunistic Colitis in a Liver Transplant Recipient. [PDF]

ACG Case Rep J
Deepali F, Rembalsky A, Akinwuntan J, Jara-Tantoco MN, Bhatia K, Ezaz G.   +5 more
europepmc   +1 more source

T cells, the Next Big Target in Axial Spondyloarthritis?

Arthritis &Rheumatology, EarlyView.
Axial spondyloarthritis (axSpA) is a chronic inflammatory disease characterized by complex immune dysregulation, with T cells playing a central role in its pathogenesis. In this review, we synthesize current knowledge on diverse T cell subsets in axSpA, their pathogenic mechanisms, and emerging therapeutic strategies targeting these cells. We highlight
Mansi K. Aparnathi, Nigil Haroon
wiley   +1 more source

Temporal trends in the clinical presentation, management, and outcomes of children with congenital cytomegalovirus infection. [PDF]

Eur J Pediatr
Bolchová J, Gkentzi D, Tomé RP, Syridou G, Noguera-Julián A, Ríos-Barnés M, Salomé S, Raimondi F, Villaverde S, Baquero-Artigao F, Rodriguez-Molino P, Buonsenso D, Martino L, Álvarez-Vallejo B, Saavedra J, Fougere Y, Lyall H, Foulon I, Buxmann H, Zanette S, Tsiatsiou O, Wan J, Blázquez-Gamero D, Papaevangelou V, cCMVnet Registry Study Group.   +24 more
europepmc   +1 more source

Early Synovial Regulatory T Cell Engagement in Posttraumatic Osteoarthritis

Arthritis &Rheumatology, EarlyView.
Objective Posttraumatic osteoarthritis (PTOA) develops despite restoration of joint biomechanics, suggesting that early postinjury biologic processes within the synovium shape disease trajectories. We investigated whether synovial Treg cells are engaged during the early phase following joint injury and whether experimental enrichment of this ...
Xueyou Zhang, Mingde Cao, Jianting Li, Bruma Sai‐Chuen Fu, Michael Tim‐Yun Ong, Patrick Shu‐Hang Yung   +5 more
wiley   +1 more source

Prevalence of Congenital Cytomegalovirus Infection in a CMV-Endemic Ugandan Population. [PDF]

Open Forum Infect Dis
Davis AKF, Prahl MK, Ilala M, Levan J, Odorizzi PM, Muhindo M, Kakuru A, Gaw SL, Kamya MR, Dorsey G, Feeney ME.   +10 more
europepmc   +1 more source

The integrated Lei‐CNS PBPK‐PD model effectively predicts clozapine brain disposition and D2 receptor occupancy in humans

British Journal of Clinical Pharmacology, EarlyView.
Aim Clozapine, used for treatment‐resistant schizophrenia, has a narrow therapeutic window and highly variable plasma pharmacokinetics (PK), necessitating careful monitoring. Direct measurement of unbound brain PK in humans is unethical. To develop a physiologically based pharmacokinetic–pharmacodynamic (PBPK‐PD) model to predict clozapine brain ...
Mengxu Zhang, Thomas I. F. H. Cremers, Vivi Rottschäfer, Elizabeth C. M. de Lange   +3 more
wiley   +1 more source

The relationship between congenital infections and autism spectrum disorder: a systematic review. [PDF]

J Pediatr (Rio J)
Jung AW, Supptitz J, Hummes PN, Rodrigues RJK, Nunes ML.   +4 more
europepmc   +1 more source