Results 51 to 60 of about 2,414,789 (346)

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

Regulating Rare Disease: Safely Facilitating Access to Orphan Drugs [PDF]

, 2018
While approximately one in ten Americans suffers from a rare disease, only 5 percent of rare diseases have a U.S. Food and Drug Administration (FDA) approved treatment.
Bannister, Julien B.
core   +1 more source

Prognostic Impact of Treatment Modalities, Including Targeted Compartmental Radio‐Immunotherapy, in a Cohort of Neuroblastoma Patients With CNS Metastases at Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez, Anna Felip‐Badia, Marina Caballero‐Bellon, Nazaret Sanchez‐Sierra, Alicia Castañeda, Moira Garraus, Maite Gorostegui, Margarida Simão‐Rafael, Juan Pablo Muñoz, Marta Perez‐Somarriba, Salvador Mañe, Mariana Cecilia Planells, Sara Perez‐Jaume, Jaume Mora   +13 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

Summary of Research: Terminal Complement Inhibitor Ravulizumab in Generalized Myasthenia Gravis

Neurology and Therapy, 2023
This article provides a summary of a previously published paper: Terminal Complement Inhibitor Ravulizumab in Generalized Myasthenia Gravis. The paper reported the results of the CHAMPION-MG trial which investigated the drug ravulizumab in the rare ...
Tuan Vu, Andreas Meisel, Renato Mantegazza, Djillali Annane, Masahisa Katsuno, Rasha Aguzzi, Ahmed Enayetallah, Kathleen N. Beasley, Nishi Rampal, James F. Howard   +9 more
doaj   +1 more source

Idiopathic Infantile arterial calcification –A Very rare case [PDF]

, 2010
A rare case of Idiopathic Arterial Calcification of Infancy (IACI), inherited as an autosomal recessive disease, is ...
Joshi, PS, Sarmila, N, Vani, R
core  

Disseminated cutaneous gout: a rare manifestation of a common disease [PDF]

, 2020
Disseminated cutaneous gout is a rare atypical cutaneous manifestation of gout in which widespread dermal and subcutaneous tophi develop at extra-articular body sites.
Adler, Brandon L, Crew, Ashley, DeClerck, Brittney, Guzman, Ruben, Peng, David   +4 more
core  

Tailgut cyst and perineal hydatid cyst: A case report with multimodality imaging findings [PDF]

, 2016
A tailgut cyst is a rare developmental lesion and usually is located in the retrorectal or presacral space. Extrahepatic hydatid disease has been reported in several locations including the pelvis and it often poses a diagnostic challenge. There are very
Alghofaily, Khalefa Ali, Aljohani, Ibtisam Musallam, McWilliams, Sebastian R, Saeedan, Mnahi Bin   +3 more
core   +4 more sources

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

European Journal of Histochemistry, 2022
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement.
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco   +10 more
doaj   +1 more source