Publications by authors named "Yanjie Duan"

2 Publications

  • Page 1 of 1

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.

Medicine (Baltimore) 2021 Jun;100(24):e26309

Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong First Medical University.

Rationale: The Schaaf-Yang syndrome (SYS) is an autosomal dominant multi-system genetic disease caused by melanoma antigen L2 (MAGEL2) gene mutations imprinted by mothers and expressed by fathers on the 15q11-15q13 chromosomes in the critical region of Prader-Willi. MAGEL2 is a single exon gene and one of the protein-coding genes of the Prader-Willi domain. MAGEL2 is a matrilineal imprinted gene (i.e., the maternal chromosome is methylated). It is only expressed by unmethylated paternal alleles, and the individual is affected only when the variation occurs on the paternal allele.

Patient Concerns: We reported a patient with MAGEL2 gene new site mutation who had mild intellectual disability, social fear, small hands and feet, obesity issues, dyskinesia, growth retardation, language lag and sexual development disorder.

Diagnosis: Whole-exome sequencing showed a heterozygous variation in the MAGEL2 gene, NM_019066.4:c.1687C > T (p.Q563X) and diagnosed as Schaaf-Yang syndrome.

Interventions: Patient was advised to reduce weight, control blood lipids, blood glucose through appropriate strengthening of exercise and diet control in the future. At the same time, the family members were advised to provide mental training to the patient to strengthen the contact and communication with the outside world and improve the autistic symptoms. Because of the patient's bilateral cryptorchidism, it is recommended that the patient should be treated with bilateral cryptorchidism reduction fixation.

Outcomes: After a follow-up of the patient for 2 months, the patient is still walking unsteadily and requires an auxiliary reference material to walk normally. There is no significant change in height compared to before, and the weight has dropped by about 2 kg in the past 2 months. The symptoms of autism have improved slightly. The patient is willing to communicate with outsiders; his intelligence has not improved significantly, and his academic performance in school is still at the middle and lower levels.

Lessons: The pathogenesis of SYS is complex, involving multiple pathways such as Leptin-POMC, MAGEL2-USP7-TRIM27 complex and oxytocin. Our study has also found that certain fatal phenotypes such as respiratory distress have a high incidence at individual sites, and early detection and timely intervention may prolong the life span of patients. Therefore, for patients in whom SYS is highly suspected, gene detection should be carried out as soon as possible.
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http://dx.doi.org/10.1097/MD.0000000000026309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213290PMC
June 2021

In-Situ Generated Trimetallic Molybdate Nanoflowers on Ni Foam Assisted with Microwave for Highly Enhanced Oxygen Evolution Reaction.

Chemistry 2021 Jun 19;27(35):9044-9053. Epub 2021 May 19.

Jiangsu Lab of Advanced Functional Material, Changshu Institute of Technology, Suzhou Shi, Changshu, 215500, P. R. China.

Oxygen evolution reaction (OER) is considered as a critical half-cell reaction of water splitting, the kinetics of which is sluggish even not favored, thus requiring highly active electrocatalysts to shrink the reaction energy barrier and improve the energy conversion efficiency. In this study, In-situ generated trimetallic molybdate nanoflowers on Ni foam by a straightforward and time-saving solvothermal method assisted with microwave, not only bring synergistic effect into full play between multiple metals, but also construct a well-defined nanoflower-like structure accompanied by larger specific area (273.3 m  g ) and smaller size than the pristine NiMoO . The resulting Ni Al MoO -NF requires a relatively low overpotential of 266 mV for OER at 10 mA cm , which outperforms commercial RuO catalysts (274 mV). Such excellent performance compares favorably to most previously reported NiMoO -based electrocatalysts for OER. This work not only supplies a facile method to construct a well-defined nanoflower-like structure on foam, but also broadens our horizons into the mechanism of OER in alkaline conditions.
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http://dx.doi.org/10.1002/chem.202100278DOI Listing
June 2021