Results 71 to 80 of about 1,474,438 (314)

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations. [PDF]

, 2011
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition.
Bacanu, S.A., E S Manas, Kong, X., Aponte, J., Manas, ES, S-A Bacanu, Cardon, L., Song, K, Nelson, MR, K Song, J Aponte, X Kong, Whittaker, JC, M R Nelson, Manas, E.S., Yuan, X., D M Waterworth, Whittaker, J.C., Kong, X, Cardon, L, Waterworth, DM, Yuan, X, L Cardon, Mooser, V.E., X Yuan, Song, K., Aponte, J, Bacanu, S-A, Nelson, M.R., Mooser, VE, J C Whittaker, Waterworth, D.M., V E Mooser   +32 more
core   +1 more source

Therapeutic Apheresis for Intravenous Methylprednisolone‐Refractory Neuromyelitis Optica Spectrum Disorder: Clinical and Radiological Outcomes in a Single‐Center Case Series

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune disease of the central nervous system. High‐dose intravenous methylprednisolone (IVMP) is the standard first‐line therapy for acute attacks, although some patients remain refractory.
Wataru Horiguchi, Daisuke Katagiri, Takeyuki Watadani, Shunichi Matsuda, Hiroshi Kaneko, Noritoshi Arai   +5 more
wiley   +1 more source

An Easyguide to Rare Diseases in Ireland: For Government, the General Public, Media and Political Parties

, 2020
Rare diseases are characterised by their relatively low prevalence (less than 1 in 2,000 people in the EU). To have a rare disease is to have a condition that often goes undiagnosed for years. Doctors may never have seen the condition before and hospital
McKnight, Amy J., Somanadhan, Suja, McAneney, Helen, et al., Rare Disease Taskforce   +4 more
core  

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

A rare presentation of a rare disease [PDF]

Journal of Clinical Pathology, 2003
A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears.
Y Steppeler, H Shaikh
openaire   +1 more source

Switching from Rituximab to Eculizumab in US Patients with Neuromyelitis Optica Spectrum Disorder: Impact on Hospitalizations

Neurology and Therapy
Introduction Neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disease, affects the optic nerves and spinal cord. Rituximab is often used off-label to treat NMOSD; however, comparator-controlled trial data are limited.
Justin Lee, Adrian Kielhorn, Sami Fam, Emily Riser, Eoin P. Flanagan   +4 more
doaj   +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

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Increased circulating progranulin is not sufficient to induce cardiac dysfunction or supraventricular arrhythmia

Scientific Reports, 2023
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia, and the incidence of new-onset AF has been increasing over the past two decades. Several factors contribute to the risk of developing AF including age, preexisting cardiovascular disease,
Kevin E. McElhanon, Tyler C. Huff, Dinesh Hirenallur-Shanthappa, Russell A. Miller, Nicolas Christoforou   +4 more
doaj   +1 more source

Cost effective assay choice for rare disease study designs [PDF]

, 2015
High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue.
Garcia-Barcelo, MM, Porsch, Robert M., PORSCH, RM, Cherny, SS, De Marco, Patrizia, Garcia-Barceló, Maria-Mercè, Cherny, Stacey S., Sham, PC, Capra, Valeria, Campbell, DD, Merello, E, Campbell, Desmond D., Sham, Pak C., Capra, V, De Marco, P, Merello, Elisa   +15 more
core   +1 more source