Results 51 to 60 of about 12,197 (223)

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Associations of First-Trimester Screening Markers and Hematological Indices with Placenta Accreta Spectrum in Pregnancies Complicated by Placenta Previa

Biomedicines
Background: Placenta accreta spectrum (PAS) is a serious pregnancy complication associated with significant hemorrhaging and elevated maternal morbidity. Timely prenatal diagnosis is critical for reducing the risk of adverse outcomes. In this study, we aimed to investigate the association between PAS and first-trimester maternal serum screening markers,
Volkan Karatasli, Ahkam Goksel Kanmaz, Alaattin Karabulut, Abdurrahman Hamdi Inan   +3 more
openaire   +3 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Pneumocystis Infection in Pregnant Women: A Scoping Review

Journal of Fungi
Pneumocystis jirovecii is an opportunistic fungus that causes severe pneumonia in immunosuppressed individuals. While Pneumocystis colonization, a subclinical form of infection, has been studied in different populations, its implications during pregnancy
Irene Calderón-Baturone, Rocío Salsoso, Elena Charpentier, Yaxsier de Armas, Pilar Guadix, Rubén Morilla, Enrique J. Calderón, Vicente Friaza   +7 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Association between glucose-to-lymphocyte ratio and hematological parameters, delivery timing, and neonatal outcomes in pregnancies complicated by preterm premature rupture of membranes

Journal of Medicine and Palliative Care
Aims: To evaluate the diagnostic significance of the glucose/lymphocyte ratio (GLR) of preterm premature rupture of membranes (PPROM) and its prognostic ability in predicting adverse neonatal outcomes. Methods: A retrospective assessment was performed on 321 pregnant women who delivered at a tertiary center between January 2023 and January 2025.
Neval Çayönü Kahraman, Furkan Akın, Şevki Çelen, Ali Çağlar   +3 more
openaire   +1 more source

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Eficácia de intervenção com enoxaparina baseada em sistema de pontuação nos desfechos perinatais de gestantes com trombofilias Usefulness of a scoring system on perinatal outcomes in pregnant women with thrombophilia in the effectiveness of an enoxaparin-based intervention

Revista Brasileira de Ginecologia e Obstetrícia, 2012
OBJETIVO: Avaliar se a intervenção com heparina de baixo peso molecular (HBPM) - enoxaparina sódica - foi eficaz na melhora dos desfechos perinatais de mulheres com trombofillias com base em sistema de pontuação.
Ernesto Antonio Figueiró-Filho, Vanessa Marcon de Oliveira, Ili Breda, Lílian Rezende Coelho, Cristiane Munaretto Ferreira   +4 more
doaj   +1 more source

Integrated Clinical and Proteomic Profiling of CD19 Chimeric Antigen Receptor T Cell Therapy in Progressive Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective To characterize the clinical, immunologic, and proteomic changes associated with CD19 chimeric antigen receptor T cell therapy in patients with progressive systemic sclerosis (SSc). Methods Patients with progressive SSc received CD19 chimeric antigen receptor (CAR)‐T cell therapy and were observed longitudinally for safety, clinical efficacy,
Chenhan Jia, Wanyi Lin, Zhangyi Zhao, Fenglin Wu, Chaoyu Gu, Yuankai Sun, Zhe Ding, Chang Wei, Xinyu Li, Cuiwei Xie, Peng Xia, Zhen Xia, Xuesong Liu, Shaoying Yang, Chunyan Zhang, Hanlin Yin, Liangjing Lu   +16 more
wiley   +1 more source

Red cell aplasia and autoimmune hemolytic anemia following immunosuppression with alemtuzumab, mycophenolate, and daclizumab in pancreas transplant recipients

Haematologica, 2007
Background and Objectives Acquired red cell aplasia (RCA) is a rare disorder and can be either idiopathic or associated with certain diseases, pregnancy, or drugs.
Milena Elimelakh, Vanessa Dayton, Katharine S. Park, Angelika C. Gruessner, David Sutherland, Robert B. Howe, Mark T. Reding, Ted Eastlund, Jo-Anne van Burik, Timothy P. Singleton, Rainer W. Gruessner, Nigel S. Key   +11 more
doaj   +1 more source