Hong, Sung Eun Kneissl, Jana Cho, Anna Kim, Man Jin Park, Soojin Lee, Jeongeun Woo, Sijae Kim, Sora Kim, Jun-Soon Kim, Soo Yeon
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Published in
Journal of Medical Genetics
Whole-exome sequencing-based diagnosis of rare diseases typically yields 40%-50% of success rate. Precise diagnosis of the patients with neuromuscular disorders (NMDs) has been hampered by locus heterogeneity or phenotypic heterogeneity. We evaluated the utility of transcriptome sequencing as an independent approach in diagnosing NMDs. The RNA sequ...
Williams, Amaris Zhao, Songzhu Brock, Guy Kline, David Echouffo-Tcheugui, Justin Basile Effoe, Valery S Bertoni, Alain G Michos, Erin D de Boer, Ian H Kestenbaum, Bryan
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Published in
BMJ open diabetes research & care
Higher concentrations of serum 25-hydroxyvitamin D (25(OH)D) and lower concentrations of parathyroid hormone (PTH) are associated with lower insulin resistance and incident diabetes in non-Hispanic White and Hispanic Americans. Results are mixed in other populations, with no observational studies in a large multiethnic cohort. The association of se...
Reyes, Luis F Bastidas Goyes, Alirio Tuta Quintero, Eduardo Andrés Pedreros, Karen D Mantilla, Yesid F Herrera, Manuela Carmona, Germán A Saza, Laura D Bello, Laura E Muñoz, Carlos A
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Published in
BMJ open respiratory research
The ROX index (Respiratory rate-OXygenation) has been described as a prediction tool to identify the need for invasive mechanical ventilation (IMV) in community-acquired pneumonia (CAP) with acute hypoxaemic respiratory failure treated with high-flow nasal cannula in order to avoid delay of a necessary intubation. However, its use in predicting the...
Algunmeeyn, Abdullah Mrayyan, Majd T
Published in
BMJ open quality
Accreditation practices are influenced by many variables, resulting in positive outcomes, such as enhanced motivation among the hospital staff. Motivation among the physician and nurses directly impacts the service quality of the hospitals. Accreditation increases organisational capacity, which may improve hospitals' overall performance. This study...
Cha, Byung Hyo Park, Min Jung Baeg, Joo Yeong Lee, Sunpyo Jeon, Eui Yong Alsalami, Wafaa Salem Obaid Idris, Osama Mohamed Ibrahim Ahn, Young Joon
Published in
BMJ open gastroenterology
Percutaneous gastrostomy (PG) is a common procedure that enables long-term enteral nutrition. However, data on the durability of individual tube types are insufficient. We conducted this study to compare the longevities and features of different PG tube types. We performed a 5-year retrospective analysis of patients who underwent endoscopic and rad...
Salazar-Robles, Elihud Kalantar-Zadeh, Kourosh Badillo, Humberto Calderón-Juárez, Martín García-Bárcenas, Cesar Alberto Ledesma-Pérez, Pedro Daniel Lerma, Abel Lerma, Claudia Salazar, Elihud
Published in
BMJ Nutrition, Prevention & Health
Park, Hyung Soon Kim, Yoo Min Kim, Sewha Lee, Won Suk Kong, So Jung Yang, Hannah Kang, Beodeul Cheon, Jaekyung Shin, Su-Jin Kim, Chan
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Published in
Journal for immunotherapy of cancer
High endothelial venule (HEV) is a specialized vasculature for lymphocyte trafficking. While HEVs are frequently observed within gastric cancer (GC), the vascular-immune interaction between HEV and tumor-infiltrating lymphocytes (TILs) has not been well elucidated. In this study, we aimed to unveil the potential value of HEVs as a surrogate marker ...
Bräunlein, Eva Lupoli, Gaia Füchsl, Franziska Abualrous, Esam T de Andrade Krätzig, Niklas Gosmann, Dario Wietbrock, Lukas Lange, Sebastian Engleitner, Thomas Lan, Huan
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Published in
Journal for immunotherapy of cancer
Neoantigens derived from somatic mutations correlate with therapeutic responses mediated by treatment with immune checkpoint inhibitors. Neoantigens are therefore highly attractive targets for the development of therapeutic approaches in personalized medicine, although many aspects of their quality and associated immune responses are not yet well u...
Pietrantonio, Filippo Lonardi, Sara Corti, Francesca Infante, Gabriele Elez, Maria Elena Fakih, Marwan Jayachandran, Priya Shah, Aakash Tushar Salati, Massimiliano Fenocchio, Elisabetta
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Published in
Journal for immunotherapy of cancer
The efficacy of immune checkpoint inhibitors (ICIs) in patients with microsatellite instability (MSI)-high metastatic colorectal cancer (mCRC) is unprecedented. A relevant proportion of subjects achieving durable disease control may be considered potentially 'cured', as opposed to patients experiencing primary ICI refractoriness or short-term clini...
Srivastava, Raman Holmes, R Davis Noel, Christopher W Lam, Tong V Shewchuk, Jason R
Published in
BMJ open quality
