Results 21 to 30 of about 122,053 (216)

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Annals of Clinical and Translational Neurology, 2020
Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprotein N‐related ...
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni   +18 more
doaj   +1 more source

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

Molecular Oncology, EarlyView.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola, Yasmine Illi, Anna Bircher, Marijn Wilmink, Rachele F. Malagutti, Solenn Ottié, Cordelia Schuler, Pedro A. Ruiz, Cheryl de Vallière, Klaus Seuwen, Gerhard Rogler, Martin Hausmann   +11 more
wiley   +1 more source

Bi-level home ventilators for non invasive positive pressure ventilation

Monaldi Archives for Chest Disease, 2004
With the widespread use of non-invasive positive pressure mechanical ventilation, great efforts have been made to produce machines, the bi-level home ventilators, which are less sophisticated, cheaper and able to better compensate air leaks with respect ...
R. Scala
doaj   +1 more source

Epigenetic silencing of the liver‐specific lncRNA LUNAR promotes liver cancer progression via NOTCH activation

Molecular Oncology, EarlyView.
LUNAR is a liver‐specific long noncoding RNA (lncRNA) that is highly expressed in normal liver but becomes epigenetically silenced in hepatocellular carcinoma through promoter hypermethylation. Loss of LUNAR is associated with NOTCH activation, epithelial–mesenchymal transition, and metastasis, whereas restoring LUNAR restrains metastatic progression ...
Se Ha Jang, Hyung Seok Kim, Geum Ok Baek, Moon Gyeong Yoon, Su In Lee, Jee‐Yeong Jeong, Ji Eun Han, Soon Sun Kim, Jae Youn Cheong, Jung Woo Eun   +9 more
wiley   +1 more source

Non-invasive Ventilation and CPAP Failure in Children and Indications for Invasive Ventilation

Frontiers in Pediatrics, 2020
Non-invasive ventilation (NIV) and continuous positive airway pressure (CPAP) are effective treatments for children with severe sleep disordered breathing (SBD).
Alessandro Amaddeo, Alessandro Amaddeo, Sonia Khirani, Sonia Khirani, Sonia Khirani, Lucie Griffon, Lucie Griffon, Theo Teng, Agathe Lanzeray, Brigitte Fauroux, Brigitte Fauroux   +10 more
doaj   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

COVID-19 patients in myasthenic crisis managed successfully with noninvasive positive pressure ventilation: a case series.

Critical Care Innovations, 2021
The management of respiratory failure during the present pandemic has been a challenging issue for the intensivists. There have been few case series and case reports on myasthenic crisis precipitated by severe acute respiratory syndrome coronavirus-2 ...
Mohd Mustahsin, Sanjay Choubey, Varun Malhotra   +2 more
doaj   +1 more source

Characterization of therapeutic antibodies targeting lymphatic and vascular resistance factor for the treatment of hypervascularized and highly metastatic cancers

Molecular Oncology, EarlyView.
LVRF (lymphatic and vascular resistance factor) is a VEGFA splice variant upregulated in response to anti‐angiogenic therapy that fosters tumor adaptation through enhanced vascularization, lymphangiogenesis, and metastatic dissemination. Targeting LVRF with fully human neutralizing antibodies disrupts these processes and limits resistant tumor growth ...
Marion David, Arthur Karaulic, Audrey Bennetot, Clémence Fournier, Quentin Odet, Arthur Gouraud, Isabelle Bourget, Cédric Gaggioli, Sandy Giuliano, Frédéric Luciano, Olivier Léger, Zaki Sellam, Gilles Pagès   +12 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Real-world data on home high-flow nasal cannula oxygen therapy in end-stage respiratory disease

Monaldi Archives for Chest Disease
High-flow nasal oxygen therapy (HFNOT) is a cornerstone treatment modality in severe acute hypoxemic respiratory failure, with benefits in improving oxygen deficit while normalizing breathing rate and having an effect on airway humidification.
Pedro Magalhães Ferreira, Mariana Ribeiro, Miguel Gonçalves, Carla Damas   +3 more
doaj   +1 more source