Results 121 to 130 of about 7,998,845 (308)

Policy Framework for Rare Disease Health Disparities

, 2011
This analysis examines federal legislation offering potential benefits for populations living with rare disease. More than 6,000 diseases are defined “rare” by prevalence of less than 200,000 in the United States.
Pamela Holtzclaw Williams
core   +1 more source

Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer

Molecular Oncology, EarlyView.
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso, Md Shohel Ul Islam, Rosa M Xicola, Raj Ramesar, Xavier Llor, Sinclair Steele   +5 more
wiley   +1 more source

MyoPath: A deep learning pipeline for objective morphometric assessment of skeletal muscle biopsies

Journal of Pathology Informatics
Aims: Muscle biopsy assessment relies on descriptive features that are difficult to compare across samples. We developed MyoPath to quantify these features and examined their usefulness in clinical biopsies and population-based autopsy material. Methods:
Huahua Zhong, Mingshi Gao, Shang Ma, Wenhan Zhang, Nachuan Cheng, Kexin Jiao, Bochen Zhu, Jie Song, Chong Yan, Dongyue Yue, Jianying Xi, Zunguo Du, Wenhua Zhu, Chongbo Zhao, Sushan Luo   +14 more
doaj   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source

Characterization of the bispecific VHH antibody tarperprumig (ALXN1820) specific for properdin and designed for low-volume administration

mAbs
The bispecific antibody tarperprumig (ALXN1820) was developed as a treatment option for diseases involving dysregulated complement alternative pathway (AP) activity that could be administered in small volumes, either subcutaneously or intravenously ...
Paul Tamburini, Dennis Vestergaard Pedersen, Denise Devore, Josh Cone, Rekha Patel, Todd Hunter, Fang Sun, Gregers Rom Andersen, Jeffrey Hunter   +8 more
doaj   +1 more source

A rare presentation of a rare disease

Egyptian Journal of Bronchology, 2014
Castleman's disease, a rare condition of uncertain etiology, is associated with lymphoproliferation. It is histologically and prognostically distinct from malignant lymph node hyperplasia. We report a case of a female patient who presented with interstitial lung disease and mediastinal lymphadenopathy, not responding to usual treatment.
openaire   +1 more source

Anaïs Nin, a life in letters : an exhibition at the Donohue Rare Book Room, Gleeson Library/Geschke Center, University of San Francisco, August 28 through October 27, 2000.

, 2000
Edition of 500 copies designed, composed, printed and bound by Terry Horrigan at Protean Press to accompany the exhibition in the Donohue Rare Book Room, and for presentation at the biennial joint meeting of the Roxburghe and Zamorano ...
Donohue Rare Book Room (University of San Francisco)
core  

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

A Rare Case Of Pigmented Mammary Paget Disease [PDF]

En Hyung Kim,1,2,* Wonnam Kim,3,* Ji Yeoun Lee1,2 1Department of Dermatology, College of Medicine, Chungbuk National University, Cheongju, Chungbuk, South Korea; 2Department of Dermatology, Chungbuk National University Hospital, Cheongju,
Kim EH, Kim W, Lee JY
core