Results 21 to 30 of about 1,336,426 (267)

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

Lipedema, a Rare Disease [PDF]

Annals of Rehabilitation Medicine, 2011
Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Shin, Bae Wook, Sim, Young-Joo, Jeong, Ho Joong, Kim, Ghi Chan   +3 more
openaire   +2 more sources

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

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

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

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

Erdheim-Chester Disease [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2016
Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. Osteosclerosis of long bones, often associated with
Matzumura, Melissa, Arias-Stella, Javier, Novak, James E.   +2 more
openaire   +2 more sources

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions

罕见病研究
Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj   +1 more source