Results 91 to 100 of about 11,580,920 (364)

Cellular liquid biopsy provides unique chances for disease monitoring, preclinical model generation and therapy adjustment in rare salivary gland cancer patients

Molecular Oncology, EarlyView.
We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...
Nataša Stojanović Gužvić, Florian Lüke, Steffi Treitschke, Andrea Coluccio, Martin Hoffmann, Giancarlo Feliciello, Adithi Ravikumar Varadarajan, Xin Lu, Kathrin Weidele, Catherine Botteron, Silvia Materna–Reichelt, Felix Keil, Katja Evert, Florian Weber, Thomas Schamberger, Michael Althammer, Jirka Grosse, Dirk Hellwig, Christian Schulz, Stephan Seitz, Peter Ugocsai, Anke Schlenska‐Lange, Roman Mayr, Ulrich Kaiser, Wolfgang Dietmaier, Bernhard Polzer, Jens Warfsmann, Kamran Honarnejad, Tobias Pukrop, Daniel Heudobler, Christoph A. Klein, Christian Werno   +31 more
wiley   +1 more source

Establishment of an α-thalassemia mouse model through fetal liver cell transplantation and analysis of hematological parameters

Scientific Reports
Clinically, α-thalassemia is stratified into mild, intermediate, and severe forms, differentiated by the degree of anemia severity. Specifically, severe α-thalassemia manifests in homozygous individuals, characterized by a profound α globin deficit.
Xin Xu, Wencheng Fu, Wenrui Ye
doaj   +1 more source

Can patient self-evaluation of functional status be used for evaluation of impairment of motor function in Guillain-Barré syndrome? Mapping clinician- and patient-reported outcomes in a phase 3 study of eculizumab in Japan

Frontiers in Neurology
Background and purposeGuillain-Barré syndrome (GBS) is an autoimmune neurological disorder characterized by muscle weakness. In clinical trials, treatment benefit and disease severity are typically measured using clinician-reported outcome measures like ...
Antoine Regnault, Angély Loubert, Stéphane Quéré, Qun Lin, Glen Frick, Hirokazu Ishida, Yuko Abeta, Helene Chevrou-Severac   +7 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

Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

Orphanet Journal of Rare Diseases, 2020
Background It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society.
Xuefeng Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou, Bingzhe Li, Li Ou   +7 more
semanticscholar   +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

Rare diseases [PDF]

Thorax, 1999
C M ROBERTS;, A E TATTERSFIELD, R M DU BOIS   +2 more
openaire   +4 more sources

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease.
Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz   +9 more
doaj   +1 more source

Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China

International Journal of Environmental Research and Public Health, 2020
Background: To investigate the multidimensional difficulties in accessing a definitive diagnosis of adult rare diseases and the associated impact factors in China.
Xiang Yan, Shenjing He, D. Dong
semanticscholar   +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