A5102866488- Diabetes Management and Research
- Diabetes and associated disorders
- Growth Hormone and Insulin-like Growth Factors
- Genetic Syndromes and Imprinting
- Gut microbiota and health
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diet and metabolism studies
- Child Nutrition and Water Access
- Hormonal and reproductive studies
- Ubiquitin and proteasome pathways
- Birth, Development, and Health
- Obesity, Physical Activity, Diet
- Corneal Surgery and Treatments
- Sexual Differentiation and Disorders
- interferon and immune responses
- Pancreatic function and diabetes
- Skin Diseases and Diabetes
- Digital Imaging for Blood Diseases
- Pharmacogenetics and Drug Metabolism
- Lipid metabolism and disorders
- Forensic Anthropology and Bioarchaeology Studies
- Adrenal Hormones and Disorders
- Blood groups and transfusion
- Oral microbiology and periodontitis research
- Ocular Disorders and Treatments
Children's Hospital of Fudan University
2015-2024
Fudan University
2014-2022
The First People's Hospital of Guiyang
2017-2021
Abstract Gut dysbiosis has been linked to type 1 diabetes (T1D); however, microbial capacity in T1D remains unclear. Here, we integratively profiled gut functional and metabolic alterations children with new-onset independent cohorts investigated the underlying mechanisms. In T1D, microbiota was characterized by decreased butyrate production bile acid metabolism increased lipopolysaccharide biosynthesis at species, gene, metabolite levels. The combination of 18 bacterial species fecal...
Central precocious puberty (CPP), largely caused by germline mutations in the MKRN3 gene, has been epidemiologically linked to cancers. is frequently mutated non–small cell lung cancers (NSCLCs) with five cohorts. Genomic aberrations are significantly enriched NSCLC samples harboring oncogenic KRAS mutations. Low expression levels correlate poor patient survival. Reconstitution of MKRN3-inactivated cells directly abrogates vitro and vivo tumor growth proliferation. knockout mice susceptible...
Blood microbiome signatures in patients with type 1 diabetes (T1D) remain unclear. We profile blood using 16S rRNA gene sequencing 77 controls and 64 children new-onset T1D, compared it the gut oral microbiomes. The of T1D is characterized by increased diversity perturbed microbial features, a significant increase potentially pathogenic bacteria controls. Thirty-six representative genera were identified random forest analysis, providing strong discriminatory power for an AUC 0.82. PICRUSt...
Acute pancreatitis (AP), a common abdominal inflammatory disorder, is characterized by premature intracellular activation of digestive proteases within pancreatic acini and consecutive systemic response. Although the mechanism remains to be fully understood, inflammation main cause damage in AP. A novel compound [4-(2-acetoxy-3-((R)-3-(benzylthio)-1-methoxy-1-oxopropan-2-ylamino)-3-oxopropyl)-1,2-phenylene diacetate (DSC)], derived from danshensu, exhibits anti-inflammatory anti-apoptotic...
Objective Putative changes in the prevalence of obesity Chinese children and adolescents Shanghai, one most urbanized areas China, were analyzed a cross-sectional manner 2003–2008. Methods One urban suburban district randomly selected. 70 582 students 2003 86 355 2008 from schools within two districts examined. Anthropometric parameters measured all. Adiposity status was estimated using body mass index according to International Obesity Task Force standards. The analyzed. Results...
Abstract The pathogenic base of neonatal diabetes mellitus (NDM) is highly heterogeneous. Sulfonylurea (SU) has been successfully applied in majority NDM patients with K We identified 16 NDM. These underwent SU titration and were followed after successful monotherapy. All sequenced for all exons adjacent intron-exon junctions Of the patients, 15 (94%) reached glycemic goal (7–10 mmol/L) monotherapy except one patient Our study showed that resulted satisfactory control most whose genetic...
The relationship between the oral microbiota and type 1 diabetes (T1D) remains unclear. We aimed to evaluate variations in microbiome T1D identify potentially associated bacterial factors.We performed high-throughput sequencing of V3-V4 area 16S rRNA gene profile composition 47 healthy children (CON group), 46 with new-onset acute phase (NT1D 10 chronic receiving insulin treatment (CT1D group). Multivariate statistical analysis data was performed.Compared CON group, NT1D group characterized...
Congenital hyperinsulinism (CHI) is a clinically, genetically, and morphologically heterogeneous disorder. 18F DOPA-PET CT scanning greatly improves its clinical outcome. Here, we presented the first Chinese scanning–based CHI cohort highlighting variable ethic phenotypes genotypes. Fifty patients were recruited. Median age at presentation was 2 days. fasting time h. Mean insulin level 25.6 μIU/ml. Fifty-two percent of diazoxide-unresponsive with significantly shorter tolerance higher serum...
Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unknown ACAN variant reduces adult height we analyze GH children an affected Chinese family. Two initially diagnosed with idiopathic (ISS) third mildly child family presented poor response....
Type 1 diabetes (T1D) is an autoimmune disease that has strong contribution of genetic factors to its etiology. We aimed assess the association between non-HLA genes and T1D in a Chinese case-control cohort recruited from multiple centers consisting 364 patients with 719 unrelated healthy children. genotyped 55 single nucleotide polymorphisms (SNP) markers located 16 (VTCN1, PTPN22, CTLA4, SUMO4, CD274, IL2RA, INS, DHCR7, ERBB3, VDR, CYP27B1, CD69, CD276, PTPN2, UBASH3A, IL2RB) using...
Natriuretic peptide receptor 2 (NPR2) plays a key role in cartilage and bone morphogenesis. The NPR2 gene mutations result acromesomelic dysplasia, Maroteaux type (AMDM), short stature with nonspecific skeletal abnormalities (SNSK), epiphyseal chondrodysplasia, Miura (ECDM). However, the pathogenic mechanism remains unclear. In our study, we identified one de novo (R557C) six novel variants (G602W, V970F, R767*, R363*, F857S, Y306S) five independent Chinese families familial stature. Three...
Abstract Background Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis essential for management prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China explore their clinical features. Methods Seventy children were enrolled cross-sectional study. Clinical information was collected, combined tests performed according children’s manifestations. Statistical analysis among different groups. In silico or...
Solute carrier family 19 member 2 (SLC19A2) gene deficiency is one of the causes permanent neonatal diabetes mellitus (PNDM) and can be effectively managed by thiamine supplementation. Herein we report on a male patient with novel SLC19A2 mutation summarize clinical characteristics patients deficiency.The genetic diagnosis PNDM was made sequencing quantitative polymerase chain reaction. The were summarized basis systematic review literature.The had c.848G>A (p.W283X) homozygous in SLC19A2....
Mendelian randomization (MR) has been used to identify drug targets in many conditions. Height is a classic complex trait affected by genetic and early-life environmental factors. No systematic screening conducted drugs that interact with height. We investigated the causal relationship between genes height, systematically screened for interactive may promote or delay growth.
The coronavirus disease 2019 (COVID-19) pandemic has been linked to an increased incidence of diabetes and diabetic ketoacidosis (DKA). However, the relationship between COVID-19 infection progression type 1 (T1D) in children not well defined.
Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic errors. This study aimed to analyze the relationship between errors and phenotypes of BWS evaluate efficacy diagnosing using patients' clinical characteristics.Patients clinically diagnosed with were subjected methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for (epi)genotyping. The characteristics analyzed compared regression models. diagnostic previous criteria scoring systems was area under...
PEG-rhGH (Jintrolong®, 0.2 mg/kg/week) is approved in China for the treatment of growth hormone deficiency (GHD) children. Although mg/kg/2 weeks failed non-inferiority threshold 20% compared with mg/kg/week PEG-rhGH, it notably increases serum IGF-1 levels and height velocity a phase IV trial. In absence investigation on relationship between pharmacokinetics pharmacodynamics, this analysis aimed to build population pharmacokinetic/pharmacodynamic (PopPK/PD) model characterize concentration...
Abstract Background Congenital adrenal hyperplasia is a group of rare autosomal recessive diseases due to seven different enzyme mutations, and 17ɑ-hydroxylase deficiency in congenital hyperplasia. The typical clinical manifestations 17α-OHD are sexual naivety, with vague or feminine apparent definition the external genitalia; pubescent adult females present no pubertal development primary amenorrhea, males show vulval dysplasia femininity. Case presentation: features laboratory whole-exon...