Results 31 to 40 of about 2,414,789 (346)

Expert Consensus on Rare Disease Pharmaceutical Care in Hospitals (2025)

Xiehe Yixue Zazhi
In recent years, with strong support from the national government, the diagnosis and treatment of rare diseases in China have achieved significant progress.
Rare Disease Drug Committee of the Chinese Pharmaceutical Association
doaj   +1 more source

Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]

, 1998
Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Laan, Maris, Pääbo, Svante, Terwilliger, Joseph D., Zöllner, Sebastian   +3 more
core   +1 more source

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source

Clinically important change for the FACIT-Fatigue scale in paroxysmal nocturnal hemoglobinuria: a derivation from international PNH registry patient data

Journal of Patient-Reported Outcomes, 2023
Background Fatigue is the most common symptom associated with paroxysmal nocturnal hemoglobinuria (PNH). The objective of this analysis was to estimate values that would suggest a clinically important change (CIC) for the functional assessment of chronic
David Cella, Peter Johansson, Yasutaka Ueda, Ioannis Tomazos, Philippe Gustovic, Alice Wang, Ami S. Patel, Hubert Schrezenmeier   +7 more
doaj   +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

Risk factors for pregnancy-related clinical outcome in myasthenia gravis: a systemic review and meta-analysis

Orphanet Journal of Rare Diseases, 2022
Objective Myasthenia gravis (MG) is an autoimmune disorder that frequently affects females at reproductive age. Herein, we aimed to assess the associations of clinical factors with pregnancy-related outcome in MG.
Manqiqige Su, Xiaoqing Liu, Liang Wang, Jie Song, Zhirui Zhou, Sushan Luo, Chongbo Zhao   +6 more
doaj   +1 more source

Commentary on "a case of paratesticular leiomyosarcoma successfully treated with orchiectomy and chemotherapy" [PDF]

, 2015
We have read with great interest the article written by Ko and colleagues on a particularly rare type of malignant mesenchymal tumor that is paratesticular leiomyosarcoma and we did appreciate the argumentation on the utility of adjuvant chemotherapy as ...
Marchetti, Paolo, MERCANTINI, Paolo, Uccini, Stefania, VIRGILIO, EDOARDO   +3 more
core   +1 more source

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +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

Stereotactic Body Radiation Therapy for Pediatric, Adolescent, and Young Adult Patients With Osteosarcoma: Local Control Outcomes With Dosimetric Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Osteosarcoma is a radioresistant tumor that may benefit from stereotactic body radiation therapy (SBRT) for locoregional control in metastatic/recurrent disease. We report institutional practice patterns, outcomes, toxicity, and failures in osteosarcoma patients treated with SBRT.
Jenna Kocsis, Shauna R. Campbell, Jonathan Jang, Eashwar Somasundaram, Chandana A. Reddy, Jacob G. Scott, Lilyana Angelov, Peter M. Anderson, Matteo Trucco, Zachary Burke, Lukas Nystrom, Nathan Mesko, Anthony Magnelli, Erin S. Murphy   +13 more
wiley   +1 more source