Results 11 to 20 of about 2,408,361 (302)

Producing amyloid fibrils in vitro: A tool for studying AL amyloidosis

Biochemistry and Biophysics Reports, 2023
Amyloid light-chain (AL) amyloidosis is the second most common form of systemic amyloidosis which is characterized by a high level of mortality and no effective treatment to remove fibril deposition.
Daria V. Sizova, Steve Raiker, Deaneira Lakheram, Vishwanatha Rao, Andrew Proffitt, Yazen Jmeian, Walter Voegtli, Melissa Batonick   +7 more
doaj   +1 more source

Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs) [PDF]

, 2015
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. Method: Retrospective review by a consultant in rehabilitation medicine of electronic
Andrew O. Frank, Beauchamp M, British Society of Rehabilitation Medicine, Department of Health, Fortini D, Frank AO, Frank AO, Gibilisco P, Kodama TK., Leigh PN, Lorraine H. De Souza, Mangin D, Matallana AM, Rare Disease UK, Rare Disease UK, Rare Disease UK., Rare Disease UK., Rare Diseases UK., Schoser B   +18 more
core   +3 more sources

Model consent clauses for rare disease research [PDF]

, 2019
Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing.
Goldblatt, Jack, Isasi, Rosario, Jagut, Marlene, Jonker, Anneliene Hechtelt, Kaufmann, Petra, Kautmann, Petra, Knoppers, Bartha, Knoppers, Bartha Maria, Molnar-Gabor, Fruszina, Nguyen, Minh Thu, Ouillade, Laetitia, Shabani, Mahsa, Sid, Eric, Tasse, Anne Marie, Tasse, Anne-Marie, Wong-Rieger, Durhane   +15 more
core   +1 more source

Rare Presentation of a Rare Orthopedic Pathology: Erdheim Chester Disease [PDF]

, 2017
In 1930, William Chester and pathologist Jakob Erdheim discovered the pathology currently known as Erdheim Chester disease. There are only approximately 249 histologically confirmed patients to have been diagnosed with this disease as noted in the ...
Samona J, Owen J, Martin S
core   +1 more source

Radiotherapy in langerhans cell histiocytosis : a rare indication in a rare disease [PDF]

, 2013
Introduction: Langerhans Cell Histiocytosis (LCH) represents a rare benign disorder, previously designated as "Histiocytosis X", "Type II Histiocytosis" or "Langerhans Cell Granulomatosis".
Bruns, Frank, Büntzel, Jens, Eich, Hans Theodor, Haverkamp, Uwe, Heyd, Reinhard, Kriz, Jan, Micke, Oliver, Schäfer, Ulrich, Seegenschmiedt, Heinrich   +8 more
core   +1 more source

Ollier's Disease - Rare Presentation of the Rare Disease.

Journal of orthopaedic case reports, 2021
Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the appendicular skeleton with multiple site involvement. We present a rare case of appendicular as well as axial skeleton involvement in a case of Ollier's disease.A 13-year-old male with multiple ...
Singh, Sukhmin, Dhingra, Mohit, Verma, Aman, Moger, Nagaraj Manju, Raja, Balgovind S   +4 more
openaire   +2 more sources

Generating health technology assessment evidence for rare diseases [PDF]

, 2014
Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen, Granados, Alicia, Guyatt, Gordon, Kent, Alastair, Shah, Nilay, van der Wilt, Gert Jan, Wong-Rieger, Durhane   +6 more
core   +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

Rare disease, rare information

Proceedings of the ALISE Annual Conference, 2022
This study aimed to uncover the types of daily healthcare information provided by hospitals to family caregivers of individuals with rare diseases and determine whether the information provided met the family caregivers’ information needs to improve digital information access and use by family caregivers.
openaire   +2 more sources

Nodular Sarcoidosis Masquerading as Cancer. [PDF]

, 2017
Nodular lung disease is a rare pulmonary manifestation of sarcoidosis and resembles metastatic neoplasm disease. Nodular sarcoidosis is rare, varying from 1.6% to 4% of patients with sarcoidosis.
Singh, Navneet K, Stein, Alexander, Sweidan, Alexander J, Tanios, Maged   +3 more
core   +2 more sources