275 Result(s)
-
Protocol
Analysis of Clinical and Biological Samples Using Microsphere-Based Multiplexing Luminex System
Immunoassays are one of the most commonly used biomedical techniques to detect the expression of an antibody or an antigen in a test sample. Enzyme-linked immunosorbent assay (ELISA) has been used for various ...
-
Article
Open AccessDiagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma of patients with NP-C. Previously, we established a rapid test to determine the plasma 7-ketocholesterol level...
-
Article
Open AccessA call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region
This article is a call for action to the relevant stakeholders to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region by looking into three main areas: (a) developin...
-
Article
Open AccessCerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, wh...
-
Chapter
Pregnancy Exposures Determine Risk of Breast Cancer in Multiple Generations of Offspring
Breast cancer is the most common non-skin cancer in women in the United States. The incidence rate of breast cancer among migrant women from Asian countries, where the breast cancer incidence is low, could ach...
-
Article
Open AccessClinical characteristics and prognostic factors of adult hemophagocytic syndrome patients: a retrospective study of increasing awareness of a disease from a single-center in China
Hemophagocytic lymphohistiocytosis (HLH) is a relatively rare but life-threatening disease with confusing clinical manifestations, rapidly deteriorating health, high morbidity and mortality.
-
Article
Open AccessThe availability and affordability of orphan drugs for rare diseases in China
Orphan drugs are intended to treat, prevent or diagnose rare diseases. In recent years, China healthcare policy makers and patients have become increasingly concerned about orphan drug issues. However, very fe...
-
Article
Quarzkristall-Mikrowaagen-Technologie als neue bioanalytische Plattform
QCM-D is a surface-sensitive technique for real-time monitoring of biolayers on surfaces with regard to adsorption and desorption, molecular interactions and structural properties. To date, this old-establishe...
-
Article
Open AccessThe RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases
Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. Thi...
-
Article
Open AccessHealth-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia
Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL ...
-
Article
Open AccessIdentification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort
Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis ...
-
Article
Open AccessUrinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically ...
-
Article
Open AccessIdentification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma
Known as solid tumors of intermediate malignant potential, most inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is en-bloc resected. However, in some cases, the tumors have recurr...
-
Article
Open AccessDepression in patients with SAPHO syndrome and its relationship with brain activity and connectivity
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the f...
-
Article
Open AccessClinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...
-
Article
Open AccessPrimary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China
This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoieti...
-
Article
Open AccessFunctional improvements in patients with lymphangioleiomyomatosis after sirolimus: an observational study
Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients.
-
Article
Open AccessAssessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which ...
-
Article
Open AccessA pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China
The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) childr...
-
Article
Open AccessClinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum ...
