Results 161 to 170 of about 39,376 (282)

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

A Portable Colorimetric Device for Rapid Bacterial Detection with Cleavable Functional Nucleic Acid Probes for A Common Bacterial Endoribonuclease

Angewandte Chemie, EarlyView.
A simple, rapid, and portable gold‐coated filter tip‐based assay (GFTA) is developed for bacterial detection. The GFTA leverages cleavable functional nucleic acid probes as molecular recognition elements to target RNase H2, a highly conserved bacterial endoribonuclease, enabling sensitive and specific colorimetric detection of bacterial pathogens ...
Jiuxing Li, Rudi Liu, Wenqing Zhang, Bruno J. Salena, Yingfu Li   +4 more
wiley   +2 more sources

Multi-scanner repeatability and reproducibility of qRF-MRF breath-held and free-breathing with pilot tone in the abdomen. [PDF]

MAGMA
Kretzler ME, Sun JEP, de Oliveira Correia ET, Bittencourt LK, Flask CA, Griswold MA, Boyacioglu R.   +6 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Abdominal gunshot wounds: evaluating the role of computed tomography in surgical timing and decision-making. [PDF]

Ulus Travma Acil Cerrahi Derg
Akın Mİ, Bulut A, Ergenç M, Uprak TK, Günal Ö, Yegen C.   +5 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Experimental evaluation of an intraoperative-imaging based workflow for electron beam radiotherapy of pancreatic cancer using in situ dosimetry. [PDF]

J Appl Clin Med Phys
Iliaskou C, Gainey M, Kollefrath M, Kuhn S, Boronikolas V, Thomsen AR, Ruess DA, Grosu AL, Baltas D.   +8 more
europepmc   +1 more source

Mechanistic investigation of Liujing Toutong tablet in the treatment of cerebral ischemia–reperfusion injury in rats by the integration of serum pharmacochemistry and metabolomics

Animal Models and Experimental Medicine, EarlyView.
The research strategy for pharmacodynamics, serum pharmacochemistry, metabolomics, and network pharmacology analysis method in intervention effects of LTT are illustrated. Abstract Background Liujing Toutong tablet (LTT) is a traditional Chinese patent medicine.
Zihan Yu, Ke Pei, Xiulin Wang, Wenling Li, Hongchang Li, Wangyang Xie, Xianglong Meng, Tingting Zhao, Yan Ning, Haixin Liu, Wenbin He   +10 more
wiley   +1 more source

CT Radiation Dose Reduction With Preserved Diagnostic Performance: How Far Have We Come Over 25 Years? [PDF]

AJR Am J Roentgenol
McCollough CH, Yu L.
europepmc   +1 more source

Citrus aurantium honey‐mediated gut homeostasis and anti‐inflammation via Thorl/Nprl2‐TORC1 signaling: Network pharmacology and Drosophila validation

Animal Models and Experimental Medicine, EarlyView.
The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan, Ruiguang Huang, Shuqiong Cao, Luxia Pan, Wenkai Zhang, Wujun Jiang, Zhiyong Liu   +6 more
wiley   +1 more source