Results 11 to 20 of about 2,414,789 (346)

How rare is isolated rheumatic tricuspid valve disease? [PDF]

, 2020
The incidence of rheumatic fever (RF) has markedly decreased in Europe since the beginning of the 20th century due to improved living conditions, early antibiotic therapy in streptococcal pharyngitis, and changes in serotypes of circulating streptococci.
Florescu, Cristina, Istrătoaie, Octavian, Mandia, Roxana, Mustafa, Edme R., Târtea, Georgică C.   +4 more
core   +2 more sources

Identifying Rare Events in Rare Diseases [PDF]

Clinical Cancer Research, 2015
Abstract Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer
Edward F, Attiyeh, John M, Maris
openaire   +2 more sources

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

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

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

Improving translational studies: lessons from rare neuromuscular diseases [PDF]

, 2015
Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core   +3 more sources

Rare ophthalmology diseases

romanian journal of ophthalmology, 2019
Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan, Liliana-Mary, Voinea, Cristina, Alexandrescu, Sanziana, Istrate, Raluca, Iancu, Ruxandra, Pirvulescu, Aida, Geamanu, Mihai, Ghita, Emil, Ungureanu, Ciuluvica, Radu   +9 more
openaire   +2 more sources