Results 111 to 120 of about 2,645,233 (222)

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Identification and experimental validation of diagnostic and prognostic genes CX3CR1, PID1 and PTGDS in sepsis and ARDS using bulk and single-cell transcriptomic analysis and machine learning

Frontiers in Immunology
BackgroundSepsis is an uncontrolled reaction to infection that causes severe organ dysfunction and is a primary cause of ARDS. Patients suffering both sepsis and ARDS have a poor prognosis and high mortality.
Jijin Jiang, Jijin Jiang, Yan Chen, Yan Chen, Yue Su, Li Zhang, Hao Qian, Hao Qian, Xinmiao Song, Jin-Fu Xu, Jin-Fu Xu   +10 more
doaj   +1 more source

Advancing the Identification of Bioactive Molecules and the Construction of a Synergistic Drug Delivery System in Combating Lung Injury

Advanced Science, EarlyView.
Traditional Chinese Medicine (TCM), while holistic and historically esteemed, faces challenges in “miracle cures” due to slow onset, long cycles, and difficulty controlling quality. This study obtains the active ingredients, glabridin (GLA) and puerarin (PUE), from Ge‐Gen Decoction (GGD), developing a safe and effective drug delivery system, GLA‐PUE ...
Jianhong Qi, Yanxia Wang, Huan Chen, Kaitian Wu, Pei Zhou, Yue Dou, Bingqi Xiong, Wei Zhou   +7 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Mucous Permeable Nanoparticle for Inducing Cuproptosis‐Like Death In Broad‐Spectrum Bacteria for Nebulized Treatment of Acute Pneumonia

Advanced Science, EarlyView.
Copper‐based nanoparticles doped with BSO, and modified with PEG, not only can it increase the retention ability and mucosal penetration ability in the lungs, but also induce cuproptosis‐like death in bacteria and inhibit bacterial TCA cycle. It can also inhibit bacterial quorum sensing, clear biofilms, reduce bacterial virulence, and thus exert ...
Huiqun Hu, Shiyuan Hua, Feng Lu, Wenting Zhang, Zengwen Zhang, Jiarong Cui, Xiaoyue Lei, Jingyan Xia, Feng Xu, Min Zhou   +9 more
wiley   +1 more source

An Explainable Neural Radiomic Sequence Model with Spatiotemporal Continuity for Quantifying 4DCT-based Pulmonary Ventilation [PDF]

arXiv
Accurate evaluation of regional lung ventilation is essential for the management and treatment of lung cancer patients, supporting assessments of pulmonary function, optimization of therapeutic strategies, and monitoring of treatment response. Currently, ventilation scintigraphy using nuclear medicine techniques is widely employed in clinical practice;
arxiv  

Immunity Debt for Seasonal Influenza After the COVID‐19 Pandemic and as a Result of Nonpharmaceutical Interventions: An Ecological Analysis and Cohort Study

Advanced Science, EarlyView.
This study provides support for the immunity debt hypothesis, revealing a 131.72% increase in influenza rates during winter and a 161.23% rise in summer, 1 year following the global easing of COVID‐19 restrictions. This study offers empirical evidence of immunity debt on a global level, highlighting the importance of incorporating this concept into the
Li Chen, Yuchen Guo, Kim López‐Güell, Jun Ma, Yanhui Dong, Junqing Xie, Daniel Prieto Alhambra   +6 more
wiley   +1 more source

PRMT1 Ablation in Endothelial Cells Causes Endothelial Dysfunction and Aggravates COPD Attributable to Dysregulated NF‐κB Signaling

Advanced Science, EarlyView.
This study investigates the role of protein arginine methyltransferase 1 (PRMT1) in endothelial cells (ECs) in chronic obstructive pulmonary disease (COPD). Mice with endothelial‐specific PRMT1 deletion develop pulmonary hemorrhage, inflammation, and apoptosis, driven by excessive nuclear factor kappa B activation.
Thi Thuy Vy Tran, Yideul Jeong, Suwoo Kim, Ji Eun Yeom, Jinwoo Lee, Wonhwa Lee, Gyu‐Un Bae, Jong‐Sun Kang   +7 more
wiley   +1 more source

A case report of empyema caused by Enterococcus gallinarum

BMC Infectious Diseases
Background Enterococcus gallinarum is an infrequently intestinal symbiotic pathogen associated with nosocomial infection in immunocompromised individuals.
Min Liu, Jixiang Liu, Juanjuan Wu, Shuang Liu, Lu Sun, Fajiu Li, Chenghong Li   +6 more
doaj   +1 more source

Prevalence of Hypertension in Patients with Chronic Obstructive Pulmonary Disease Attending Respiratory Medicine OPD

International Journal of Medical Science and Clinical Invention, 2017
Hypertension is a common complication of chronic obstructive pulmonary disease (COPD); its prevalence is currently unknown. The objectives of the study were to provide data on the prevalence of hypertension among the COPD patients. Systemic hypertension and chronic obstructive pulmonary disease (COPD) frequently coexist in the same patient, especially ...
openaire   +2 more sources