difficult metabolic diseases
Conditions
Interventions
Gold Standard:Clinical outcome
early 
diagnosis 
and 
second-generation 
data 
intelligent 
analysis 
matching, 
issuing.
Sponsors
Shanghai Sixth People's Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: a.Special types of diabetes: 1. Age of onset = 32.5kg/m2; or 2. 27.5kg/m2 <= BMI < 32.5kg/m2, difficult to achieve weight loss with lifestyle interventions and medical treatment, and meeting at least two components of metabolic syndrome, or accompanied with comorbidities. c. Bone metabolic disease: 1. The age of onset is young, usually children, adolescents or young adults; 2. Patients with a well-defined extra-skeletal phenotypes or involvement of the entire skeletal systemPatients with clinical symptoms and bone metabolic parameters highly similar to those of metabolic bone disease with known pathogenic genes. 3. Conventional clinical treatment has failed to improve symptoms; 4. There are similar cases in the family pedigree.
Exclusion criteria
Exclusion criteria: Nil
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sequencing panel testing;SEN, SPE, ACC, AUC of ROC; | — |
Countries
China
Contacts
Public ContactHu Cheng
Shanghai Sixth People's Hospital
Outcome results
None listed