Results 51 to 60 of about 7,998,845 (308)

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 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

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

Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin, Sheila K. Pierson, Kelley C. Dacus, Mateo Sarmiento Bustamante, Saishravan Shyamsundar, Larissa Borys, Kayla McHugh, Abiola Irvine, Yoojin Jo, Adam Bagg, Mary Jo Lechowicz, Daisy Alapat, Amy Chadburn, Megan S. Lim, Gordan Srkalovic, Frits van Rhee, David C. Fajgenbaum, Joshua D. Brandstadter   +17 more
wiley   +1 more source

Incidence and prevalence of light chain amyloidosis in the United States in 2019–2021 using Optum EHR data

Scientific Reports
Immunoglobulin light chain amyloidosis (AL amyloidosis) is among the most common forms of systemic amyloidosis. Using electronic health records (EHR) data from the United States, we aimed to estimate the incidence and prevalence of AL amyloidosis over ...
Pedro A. Laires, Shona Fang, Jennifer Evans, Jeffrey Thompson, Abhishek Gaur, Brendon Staruk, Ankita Gupta, Richa Manwani   +7 more
doaj   +1 more source

Collecting rare diseases [PDF]

F1000Research, 2014
This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
openaire   +2 more sources

The Impact of the COVID‐19 Pandemic on Childhood Cancer Survival: A Population‐Based Assessment of Survival Patterns Between 2015 and 2023 in Germany

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Numerous international studies have reported declines in new cancer diagnoses, delayed diagnoses and disruptions in cancer treatment following the implementation of COVID‐19 pandemic public health measures, raising concerns that these effects may ultimately contribute to increased cancer mortality.
Friederike Erdmann, Maike Wellbrock, Javier Louro, Arndt Borkhardt, Martin Schrappe, Claudia Trübenbach, Desiree Grabow, Cécile M. Ronckers, Joachim Schüz   +8 more
wiley   +1 more source

Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of ALXN1820 (Tarperprumig) in Healthy Adults: Results of a Phase I Study

Clinical and Translational Science
Properdin is an endogenous positive regulator of the complement alternative pathway (AP). Tarperprumig (ALXN1820), a novel humanized bispecific antibody, binds properdin and albumin and is being developed to treat complement‐mediated diseases. This phase
Avner Sandhu, Tong Shen, Paz Martin Herrero, Chao‐Xing Yuan, Samirah Qureshi, Xiaoyu Jiang, Ye Sheng, Christoph Gasteyger, Yang Dai   +8 more
doaj   +1 more source

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

Chemotherapy for Spinal Cord Intramedullary Pediatric Low‐Grade Glioma—A Systematic Literature Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko, Segev Gabay, Jonathan Roth, Amit Ringel, Rina Dvir, Shlomi Constantini   +5 more
wiley   +1 more source