Results 61 to 70 of about 45,763 (247)

Neutrophil deficiency increases T cell numbers at the site of tissue injury in mice

FEBS Letters, EarlyView.
In wild‐type mice, injury or acute inflammation induces neutrophil influx followed by macrophage accumulation. Mcl1ΔMyelo (neutrophil‐deficient) mice lack neutrophils, and in response to muscle injury show fewer macrophages and exhibit strikingly elevated T‐cell numbers, primarily non‐conventional “double‐negative” (DN) αβ and γδ T cells.
Hajnalka Halász, Albert Bálint Papp, Lukács Sándor Lesinszki, Attila Mócsai, Tamás Varga, László Nagy, Péter Gogolák   +6 more
wiley   +1 more source

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Orphanet Journal of Rare Diseases, 2020
The ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs).
C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard, M. Scarpa, MetabERN collaboration group   +12 more
doaj   +1 more source

TOMM20 as a driver of cancer aggressiveness via oxidative phosphorylation, maintenance of a reduced state, and resistance to apoptosis

Molecular Oncology, EarlyView.
TOMM20 increases cancer aggressiveness by maintaining a reduced state with increased NADH and NADPH levels, oxidative phosphorylation (OXPHOS), and apoptosis resistance while reducing reactive oxygen species (ROS) levels. Conversely, CRISPR‐Cas9 knockdown of TOMM20 alters these cancer‐aggressive traits.
Ranakul Islam, Megan E. Roche, Zhao Lin, Diana Whitaker‐Menezes, Victor Diaz‐Barros, Eurico Serrano, Maria Paula Martinez Cantarin, Nancy J. Philp, Atrayee Basu Mallick, Ubaldo Martinez‐Outschoorn   +9 more
wiley   +1 more source

A pilot study of patient satisfaction with a self-completed tablet-based digital questionnaire for collecting the patient’s medical history in an emergency department

BMC Health Services Research, 2021
Background The increasing popularity and availability of tablet computers raises questions regarding clinical scenarios. This pilot study examined the patient’s satisfaction when using a tablet-based digital questionnaire as a tool for obtaining medical ...
Leander Melms, Juergen R. Schaefer, Andreas Jerrentrup, Tobias Mueller   +3 more
doaj   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

Orphanet Journal of Rare Diseases
Background The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of diagnosis in this population group ...
Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov   +10 more
doaj   +1 more source

Multi-criteria decision analysis for assessment and appraisal of orphan drugs

Frontiers in Public Health, 2016
Background: Limited resources and expanding expectations push all countries and types of health systems to adopt new approaches in priority setting and resources allocation.
Georgi Iskrov, Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Tsonka Miteva-Katrandzhieva, Rumen Stefanov, Rumen Stefanov   +5 more
doaj   +1 more source

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

Orphanet Journal of Rare Diseases, 2022
Background Since the beginning of the COVID-19 pandemic, MetabERN has been monitoring the SARS-CoV-2 infection rates within its metabolic community. To gather data on the total number of cases and the severity of symptoms among IMD patients one year into
Laura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, Karolina M. Stepien, Maurizio Scarpa   +4 more
doaj   +1 more source

Whipple's disease with constrictive pericarditis: A rare disease with a rare presentation [PDF]

Canadian Journal of Cardiology, 2009
Whipple's disease is a multisystem disease that can affect the heart with predominantly endocardial and pericardial involvement and, less often, myocardial inflammation. Previously diagnosed at autopsy, cardiac involvement in Whipple's disease is being recognized clinically more often. A 58-year-old man with Whipple's-related constrictive pericarditis,
John P. Veinot, Tariq Iqbal, Alan Karovitch, Luc M. Beauchesne, Raphael Saginur   +4 more
openaire   +3 more sources

Escape from TGF‐β‐induced senescence promotes aggressive hallmarks in epithelial hepatocellular carcinoma cells

Molecular Oncology, EarlyView.
Chronic TGF‐β exposure drives epithelial HCC cells from a senescent state to a TGF‐β resistant mesenchymal phenotype. This transition is characterized by the loss of Smad3‐mediated signaling, escape from senescence, enhanced invasiveness and metastatic potential, and upregulation of key resistance modulators such as MARK1 and GRM8, ultimately promoting
Minenur Kalyoncu, Dilara Demirci, Sude Eris, Bengisu Dayanc, Ece Cakiroglu, Merve Basol, Merve Uysal, Gulcin Cakan‐Akdogan, Fang Liu, Mehmet Ozturk, Gökhan Karakülah, Serif Senturk   +11 more
wiley   +1 more source