A5100686921- Metabolism and Genetic Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Prenatal Screening and Diagnostics
- Diabetes and associated disorders
- Fetal and Pediatric Neurological Disorders
- Diet, Metabolism, and Disease
- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Immune Cell Function and Interaction
- Growth Hormone and Insulin-like Growth Factors
- Mitochondrial Function and Pathology
- Diabetes Management and Education
- Diet and metabolism studies
- Liver Disease Diagnosis and Treatment
- Diabetes Management and Research
- Genomic variations and chromosomal abnormalities
- Thyroid Disorders and Treatments
- Hormonal and reproductive studies
- Parvovirus B19 Infection Studies
- Cardiac Ischemia and Reperfusion
- Ovarian function and disorders
- Endometriosis Research and Treatment
- Adrenal Hormones and Disorders
- Alcohol Consumption and Health Effects
- Autopsy Techniques and Outcomes
Sichuan University
2022-2024
West China Second University Hospital of Sichuan University
2022-2024
Wenzhou Medical University
2021
Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University
2021
Guangzhou Medical University
2014-2020
Guangzhou Women and Children Medical Center
2014-2020
Wuxi Ninth People's Hospital
2020
Xi'an Jiaotong University
2020
Soochow University
2020
National Natural Science Foundation of China
2017
Background: Increasing cases of diabetes, a general lack routinely operational prevention, and long history separating disease prevention treatment call for immediate engagement frontier clinicians. This applies especially to village doctors who work in rural China where the majority nation's vast population lives. Objective: study aims develop test an online Smart Web Aid Preventing Type 2 Diabetes (SWAP-DM2) capable addressing major barriers applying proven interventions integrating...
Type 1 diabetes is an autoimmune disorder, which occurs due to β cell damage. Interleukin (IL)-10, a pleotropic cytokine, has been reported have anti‑inflammatory, immunosuppressive and immunostimulatory properties. Administration of IL‑10 known prevent in non‑obese diabetic (NOD) mice. However, the mechanism IL‑10‑induced protection NOD mice requires further investigation. The aim present study was evaluate protective effect transgenic expression pancreatic cells against damage elucidate...
In the past few decades, consumption of added sugars has increased dramatically. Studies have linked high sugar intake with risk for a number diseases. Importantly, fructose, component sugar, been development features metabolic syndrome. This study determined if single nucleotide polymorphisms in genes involved fructose transport (solute carrier family 2 facilitated glucose transporter, member (SLC2A2) and solute glucose/fructose 5 (SLC2A5)) metabolism (ketohexokinase (KHK)) affect...
Background Sulfonylurea therapy can improve glycemic control and ameliorate neurodevelopmental outcomes in patients suffering from neonatal diabetes mellitus (NDM) with KCNJ11 or ABCC8 mutations. As genetic testing results are often delayed, it remains controversial whether sulfonylurea treatment should be attempted immediately at diagnosis doctors await confirmation. Objective This study aimed to investigate the effectiveness safety of Chinese NDM during infancy before were available....
The purpose of this study was to investigate the molecular basis maturity-onset diabetes young (MODY) by whole-exome sequencing (WES) and estimate frequency describe clinical characteristics MODY in southern China.Genetic analysis performed 42 patients with aged 1 month 18 years among a cohort 759 diabetes, identified following four criteria: age diagnosis ≤18 years; negative pancreatic autoantibodies; family history diabetes; or persistently detectable C-peptide; associated extrapancreatic...
Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on incidence, spectrum, and clinical presentation features IEM in southern China.From January 2009 to March 2012, 16,075 urine samples were collected from patients who highly suspected having Guangzhou Women Children's Medical Center. The specimens evaluated GC-MS.We diagnosed 303 cases by GC-MS analysis, including 197 with amino...
Abstract Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene. Clinical features and mutational analysis of Chinese children with WD at early age were rarely described. Herein, we retrospectively examined 114 mean 5.9 years old diagnosis. Eight patients developed acute liver failure 9.7 old, 4 whom died. Among patients, 86.0% presymptomatic isolated elevation transaminases diagnosis, 99.1% had decreased ceruloplasmin, 68.4% urinary copper excretion...
Abstract Background Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to of CNVs. This study evaluated clinical application NIPS for detecting CNVs among fetuses USMs in pregnant women not advanced maternal age (AMA). Results Fetal aneuploidies were identified 6647 using Berry Genomics algorithm.Those positive results underwent...
To explore the clinical presentation and molecular genetic characteristics of a cohort congenital hyperinsulinism (CHI) patients from southern China also to most appropriate therapeutic approaches.We retrospectively reviewed 65 children with CHI. Mutational analysis was performed for KCNJ11 ABCC8 genes. The GLUD1 gene sequenced in hyperammonaemia. GCK sequencing those no mutation identified ABCC8, or genes.ABCC8 mutations were 16 (25%) cohort, five children, identified. Moreover, some unique...
A specific molecular diagnosis of monogenic diabetes mellitus (MDM) will help to predict the clinical course and guide management. This study aims identify causative genes implicated in Chinese patients with MDM onset before 3 years age.71 children (43 diagnosed 6 months age, 28 between age who were negative for diabetes-associated autoantibodies) underwent genetic testing a combination strategy Sanger sequencing, chromosome microarray analysis whole exome sequencing. They categorized into...
Background Self‐management programmes are an increasingly popular way of treating chronic diseases. Aims This study aims to determine the efficacy Stanford Chronic Disease Self‐Management Programme ( CDSMP ) in a New Zealand context by assessing course outcomes and readability accompanying reference guide Living Healthy Life with Conditions, 4th Edition . Methods is cross‐sectional pre–post conducted Auckland between August 2009 September 2015, using participants’ baseline follow‐up Health...
Background: This study aims to evaluate prenatal diagnosis methods following positive noninvasive screening (NIPS) results. Methods: According the results, 926 pregnant women were divided into three groups: main target disease group (high risk for trisomy 21, 18, or 13), sex chromosome aneuploidy (SCA) group, and other chromosomal abnormalities [abnormal Z-scores chromosomes than (T)21/T18/T13 SCAs]. The verification results then retrospectively analysed. Results: In rate of confirmed by...
Background: The long protocol has been recognized as the gold standard in controlled ovarian hyperstimulation (COH). However, full dose of gonadotropin-releasing hormone agonist (GnRH-a) under prolonged become increasingly popular China. This study sought to compare pregnancy outcomes among following 3 groups: a group, and 2 types improved groups. Methods: A retrospective cohort was conducted 550 patients undergoing fresh embryo transfer (ET). Patients were treated either with follicular...
X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) most frequent phenotype.We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death.Diagnosis based clinical symptoms, abnormal very long chain fatty acid profile plasma, typical CCALD MRI pattern, and molecular...
Objective To explore the morbidity and related clinical factors of hepatic dysfunction in children with hyperthyroidism. Methods Totally 393 hyperthyroidism were divided into 2 groups: group(174 cases) normal liver function group(219 cases). The gender, age, family history thyroid disease, duration indicators retrospectively analyzed groups. Results The was 44.3%(174/393 cases), most common abnormal parameter increase alanine aminotransferase(ALT), which accounted for 88.5%(147...