Results 51 to 60 of about 1,474,438 (314)

Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions

罕见病研究
Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj   +1 more source

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

IntroducingRare Diseases [PDF]

Rare Diseases, 2013
We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype ...
Szajner, Patricia, Yusufzai, Timur
openaire   +2 more sources

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine
Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients.
Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz   +36 more
doaj   +1 more source

A mouse anti-myostatin antibody increases muscle mass and improves muscle strength and contractility in the mdx mouse model of Duchenne muscular dystrophy and its humanized equivalent, domagrozumab (PF-06252616), increases muscle volume in cynomolgus monkeys

Skeletal Muscle, 2017
Background The treatments currently approved for Duchenne muscular dystrophy (DMD), a progressive skeletal muscle wasting disease, address the needs of only a small proportion of patients resulting in an urgent need for therapies that benefit all ...
Michael St. Andre, Mark Johnson, Prashant N. Bansal, Jeremy Wellen, Andrew Robertson, Alan Opsahl, Peter M. Burch, Peter Bialek, Carl Morris, Jane Owens   +9 more
doaj   +1 more source

An unusual unifocal presentation of Castleman’s disease in a young woman with a detailed description of sonographic findings to reduce diagnostic uncertainty: a case report

, 2013
Background: Castleman’s disease is a rare lymphoproliferative disorder. It typically presents as mediastinal masses and causes a wide range of clinical symptoms.
Zerrin Maden, Norbert Wagner, Wagner, Norbert, Maden, Zerrin   +3 more
core   +1 more source

Venous Thromboembolism in Pediatric Bone Sarcoma Patients: A 10‐Year, Single‐Institution Experience Encompassing the COVID‐19 Pandemic

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Osteosarcoma (OS) and Ewing sarcoma (EWS) are the most common primary bone cancers in children, but acute thrombosis is poorly characterized in this population. Our study evaluated the rates of venous thromboembolism (VTE) and associated risk factors in pediatric patients with bone sarcomas treated over a 10‐year period encompassing
Sarah Kappa, Shou Xu, Mark Zobeck, Sarah E. Sartain, Nino Rainusso, Lisa Wang, Nicole Montgomery, Paige Wheaton, Sarah Whittle   +8 more
wiley   +1 more source

The Challenge of Rare Diseases [PDF]

Chest, 2018
Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Although individually uncommon, rare diseases are common in the aggregate, with approximately 7,000 described rare diseases affecting 25 to 30 million US adults.
openaire   +2 more sources

Protocol for determining the average speed and frequency of kinesin and dynein-driven intraflagellar transport (IFT) in C. elegans

STAR Protocols, 2022
Summary: Here, we present a protocol to image a fluorescent-labeled intraflagellar transport (IFT) component in Caenorhabditis elegans with fluorescence microscopy, including steps of sample preparations, in vivo live-cell imaging, and post-microscopy ...
Merve G. Turan, Hanife Kantarci, Sadiye D. Temtek, Onur Cakici, Sebiha Cevik, Oktay I. Kaplan   +5 more
doaj   +1 more source

Invasive Haemophilus influenzae Disease, Europe, 1996-2006 [PDF]

, 2010
European Union Invasive Bacterial Infection Surveillance participants: Paula Lavado (Departamento de Doenças Infecciosas do INSA)An international collaboration was established in 1996 to monitor the impact of routine Haemophilus influenzae type b (Hib ...
Ladhani, S, Mary P.E. Slack, Heath, PT, Heath, P.T., Chandra, M, Ladhani, S., Anne von Gottberg, European Union Invasive Bacterial Infection Surveillance partici, Manosree Chandra, von Gottberg, A, Slack, MP, Chandra, M., Slack, M.P., von Gottberg, A., Shamez Ladhani, Paul T. Heath, Ramsay, M.E., Mary E. Ramsay, Ramsay, ME, European Union Invasive Bacterial Infection Surveillance participants   +19 more
core   +1 more source