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2 results on '"YangYiYi Huang"'

1. A case report: Comorbidity of Rhinocerebral mucormycosis and pulmonary aspergillosis with challenging diagnosis

Author

Qi Wang, YangYiYi Huang, HaiNa Ma, and Guo-Kang Fan

Subjects
Rhinocerebral mucormycosis, Rhizopus, metagenomic next-generation sequencing, case report, amphotericin B, posaconazole, Medicine (General), R5-920
Abstract

BackgroundMucormycosis is a rare opportunistic invasive fungal disease. Rhinocerebral mucormycosis (RCM) is clinically difficult to diagnose, and patients often die due to delayed diagnosis.Case descriptionA patient with concurrent pulmonary aspergillosis was diagnosed with RCM caused by Rhizopus through metagenomic Next-Generation Sequencing (mNGS). Despite comprehensive treatment including surgery, amphotericin B, and posaconazole, the patient tragically passed away. The treatment was delayed due to repeated cultures of secretions were negative and pathological examination could not clarify which fungus is infected.ConclusionThe clinical manifestations of RCM are not specific in the early stage, but the infection progresses rapidly. Therefore, early and accurate diagnosis is very important. mNGS is helpful for patients suspected of RCM, especially when conventional microbiology tests were negative.

Published
2024
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2. Mitochondrial tRNA Variants in Chinese Subjects With Coronary Heart Disease

Author

Yanwen Qin, Ling Xue, Yiqun He, Min-Xin Guan, Jun Qin Mo, Suxue Shi, Pingping Jiang, Jiqiang He, Yangyiyi Huang, and Meifen Xu

Subjects
Adult, Male, China, Heredity, Sequence analysis, DNA Mutational Analysis, Coronary Disease, medicine.disease_cause, Genome, DNA, Mitochondrial, Gene Frequency, Asian People, RNA, Transfer, Risk Factors, cardiovascular disease, maternal transmission, Medicine, Coronary Heart Disease, Humans, Genetic Predisposition to Disease, Allele frequency, Gene, Aged, Original Research, mitochondrial tRNA, Genetics, Mutation, business.industry, Editorials, Case-control study, Middle Aged, mutations, tRNAs, Pedigree, mitochondria, Phenotype, Case-Control Studies, Transfer RNA, Female, Cardiology and Cardiovascular Medicine, business, coronary artery disease
Abstract

Background Coronary heart disease is the leading cause of death worldwide. Mitochondrial genetic determinants for the development of this disorder remain less explored. Methods and Results We performed a clinical and genetic evaluation and mutational screening of 22 mitochondrial tRNA genes in a cohort of 80 genetically unrelated Han C hinese subjects and 125 members of 4 families with coronary heart disease and 512 C hinese control subjects. This analysis identified 16 nucleotide changes among 9 tRNA genes. Of these, the T5592C mutation creates a highly conservative base pairing (5G‐68C) on the acceptor stem of tRNA Gln , whereas the G15927A mutation destabilizes a highly conserved base pairing (28C‐42G) in the anticodon stem of tRNA Thr . However, the other tRNA variants were polymorphisms. The pedigrees of BJH24 carrying the T5592C mutation, BJH15, and BJH45 harboring the G15927A mutation exhibited maternal transmission of coronary heart disease. Sequence analysis of their mitochondrial genomes revealed the presence of T5592C or G15927A mutation but the absence of other functionally significant mutations in all matrilineal relatives of these families. Conclusions Our previous observations showed that altered structures of tRNA s by these mt DNA mutations caused mitochondrial dysfunction. These may be the first evidence that mt DNA mutations increase the risk of coronary heart disease. Our findings may provide new insights into the pathophysiology of this disorder.

Published
2014

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