Results 31 to 40 of about 2,408,361 (302)

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

Increased serum IL-2, IL-4, IL-5 and IL-12p70 levels in AChR subtype generalized myasthenia gravis

BMC Immunology, 2022
Background Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular junctions. Cytokines play important roles in facilitating the immune response and augmenting the pathogenic antibody production.
Xiao Huan, Rui Zhao, Jie Song, Huahua Zhong, Manqiqige Su, Chong Yan, Ying Wang, Sheng Chen, Zhirui Zhou, Jiahong Lu, Jianying Xi, Sushan Luo, Chongbo Zhao   +12 more
doaj   +1 more source

Hepatosplenic sarcoidosis complicated by liver cirrhosis [PDF]

, 2015
Sarcoidosis is a multisystemic disease usually affecting the lungs and mediastinal lymph nodes. Other organs, such as the liver and the spleen, are less commonly involved. Patients usually present with mild nonspecific symptoms.
Bernard, Philippe, Peters, Benjamin, Van Dijck, Herwig, Van Overbeke, Lode, Vanhoenacker, Filip   +4 more
core   +3 more sources

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

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

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

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

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +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

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