A5102966214- Adrenal Hormones and Disorders
- Sexual Differentiation and Disorders
- Amino Acid Enzymes and Metabolism
- Hormonal and reproductive studies
- Metabolism and Genetic Disorders
- Hormonal Regulation and Hypertension
- Cancer, Hypoxia, and Metabolism
- Liver Disease Diagnosis and Treatment
- Neurological diseases and metabolism
- Fungal Biology and Applications
- Diabetes and associated disorders
- Genetic Syndromes and Imprinting
- Infectious Diseases and Mycology
- Virus-based gene therapy research
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Silymarin and Mushroom Poisoning
- Blood disorders and treatments
- Gut microbiota and health
- Diet and metabolism studies
- Lipid metabolism and disorders
XinHua Hospital
2020-2025
Shanghai Jiao Tong University
2020-2025
Anhui Xinhua University
2022
Chengdu University of Traditional Chinese Medicine
2018
ABSTRACT The development and severity of metabolic dysfunction-associated steatotic liver disease (MASLD) in children are closely related to alterations gut microbiota. This study aims investigate changes the microbiota signature microbial metabolites with MASLD. We collected fecal samples from adolescents aged 6–16 years, presence MASLD was diagnosed by ultrasound. performed 16S ribosomal DNA sequencing targeted metabolomics 36 25 subjects, consisting healthy controls, obesity, α-diversity...
Abstract Background Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide. Methods We demonstrated 14 previously undescribed together three reportedly in Mainland China. Full clinical information was collected, disease‐causing variants the DDC gene were detected. Results The common manifestation of patients,...
Inhibition of tumor cell migration is a treatment strategy for patients with colorectal cancer (CRC). SCF-dependent activation c-KIT responsible positive [c-KIT(+)] cells CRC. Drug resistance to Imatinib Mesylate (c-KIT inhibitor) has emerged. mTOR can induce autophagic degradation c-KIT. (+)-usnic acid [(+)-UA], isolated from lichens, two major functions including induction proton shuttle and targeting inhibition mTOR. To reduce hepatotoxicity, the concentration (+)-UA should be lower than...
Abstract Background X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical genetic characterization. Methods The clinical, biochemical, genetic, therapeutic, follow-up data of 42 patients diagnosed AHC were retrospectively analysed. Results Hyperpigmentation (38/42, 90%), vomiting/diarrhoea (20/42, 48%), failure to thrive (13/42, 31%), convulsions (7/42, 17%) the most common...
Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. Differential diagnosis of numerous causes PAI requires thorough understanding the condition.To describe genetic composition and presentations PAI. The following data were collected retrospectively from 111 patients with non-21OHD defined diagnoses: demographic information, onset age, clinical manifestations, laboratory findings results. Patients divided into four groups based on underlying pathogenesis: (1)...
Abstract Objectives Regions of homozygosity (ROH) could implicate uniparental disomy (UPD) on specific chromosomes associated with imprinting disorders. Though the algorithms for ROH detection in exome sequencing (ES) have been developed, optimal reporting thresholds and when to pursue confirmatory UPD testing disorders remain ambiguity. This study used a data-driven approach assess clinical practice. Methods analysis was performed using Automap retrospective cohort 8,219 patients...