Results 51 to 60 of about 1,415,866 (266)

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Cells, 2020
Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1,
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada   +3 more
doaj   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

The RaDiCo information system for rare disease cohorts

Orphanet Journal of Rare Diseases
Background Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved.
Paul Landais, Sonia Gueguen, Annick Clement, Serge Amselem, for the RaDiCo Program   +4 more
doaj   +1 more source

Applications of gene modification technologies in the treatment of inherited diseases

Journal of Education, Health and Sport
Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases.
Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak   +6 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life

Cells
Topoisomerases regulate the topological state of cellular genomes to prevent impediments to vital cellular processes, including replication and transcription from suboptimal supercoiling of double-stranded DNA, and to untangle topological barriers ...
Kemin Tan, Yuk-Ching Tse-Dinh
doaj   +1 more source

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source

Huntington’s disease genetics [PDF]

NeuroRX, 2004
Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impairment, mood disorders, and ...
openaire   +2 more sources