Results 71 to 80 of about 1,622,414 (348)

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

Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
core   +2 more sources

Clinical Characteristics and Prognostic Risk Factors for Pediatric B‐Cell Lymphoblastic Lymphoma: A Multicenter Retrospective Cohort Study for China Net Childhood Lymphoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu, Jian Wang, Ling Jin, Yanlong Duan, Fu Li, Yueping Jia, Leping Zhang, Xiaojun Yuan, Wei Liu, Ying Liu, Ansheng Liu, Mincui Zheng, Yunpeng Dai, Lian Jiang, Lirong Sun, Xiaowen Zhai, Rong Liu, Chunju Zhou, Zifen Gao, Yonghong Zhang, Xiaomei Yang   +20 more
wiley   +1 more source

A RARE CASE OF MIXED NONTUBERCULOID MYCOBACTERIUM LUNG DISEASE DUE TO MYCOBACTERIUM AVIUM INTRACELLULARE AND MYCOBACTERIUM KANSASII [PDF]

, 2023
DANIEL A ACOSTA, CYNTHIA ESPINOSA, L.I. Mendez Morente, ADOLFO ALVAREZ, Nicholas Camps, JASON KOVACEVIC   +5 more
openalex   +1 more source

A rare disease.

Critical care (London, England), 2007
Thrombocytopenia is a common finding in critically ill patients. Heparin-induced thrombocytopenia is an infrequent cause of a low platelet count. Intensivists should use the diagnostic classification system developed by the International Society on Thrombosis and Haemostasis to diagnose heparin-induced thrombocytopenia.
openaire   +2 more sources

Regulating Rare Disease: Safely Facilitating Access to Orphan Drugs [PDF]

, 2018
While approximately one in ten Americans suffers from a rare disease, only 5 percent of rare diseases have a U.S. Food and Drug Administration (FDA) approved treatment.
Bannister, Julien B.
core   +1 more source

Exercise Interventions in Children, Adolescents and Young Adults With Paediatric Bone Tumours—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Bone tumours present significant challenges for affected patients, as multimodal therapy often leads to prolonged physical limitations. This is particularly critical during childhood and adolescence, as it can negatively impact physiological development and psychosocial resilience.
Jennifer Queisser, Claire Laurie, Teresa Schmidt, Irene von Luettichau, Peter Bekkering, Sabine Kesting   +5 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

Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases [PDF]

, 2023
Cynthia Stapornwongkul, Alexandra Nieters, Paulina Staus, Stephan Rusch, Anita Delor, Ulrich Baumann, Julius Wehrle, Melanie Boerries, Markus G. Seidel, Bodo Grimbacher, Gerhard Kindle   +10 more
openalex   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source