detection-mycoplasma-pneumoniae-nucleic-acid-drug-resistance

Detection of <em>Mycoplasma pneumoniae</em> Nucleic Acid and Drug Resistance Gene

Mycoplasma pneumoniae (Mp) represents one of the most prevalent pathogens responsible for community-acquired pneumonia (CAP) in pediatric populations. The ...

Heyuan People's Hospital, Guangdong Provincial People's Hospital Heyuan Hospital

Hearing loss (HL) can severely impact the quality of human life. To explore strategies for clinical interventions, we investigated hearing screening coupled with genetic testing of deafness among Hakka newborns.

Combined hearing screening and genetic screening of deafness among Hakka newborns in China.

Approximately 1.5% of individuals with hemoglobin disorders carry the β-thalassemia gene variant, impacting around 40,000 newborns annually. Given the incomplete understanding of β-thalassemia pathogenesis, there is an urgent need to identify effective biomarkers to advance research, diagnosis, and treatment. This study aims to identify potential biomarkers for two key purposes: (1) diagnosing transfusion-dependent β-thalassemia (TDT) and (2) detecting iron overload complications, with a focus on functional markers that reflect iron metabolism dysregulation in TDT. This study integrates transcriptomic data from the Genome Sequence Archive dataset (CRA003639) with bioinformatics analysis to identify potential biomarkers associated with β-thalassemia. Subsequently, Hbb-bs and Hbb-bt double knockout mice were used to establish a β-thalassemia model, while C57BL/6JCya mice served as the control group, to validate the identified biomarkers through animal experiments. Seventeen reliable cell subsets were identified through rigorous annotation and screening. Quantitative analysis revealed a decreased proportion of immune cells (natural killer [NK] cells, T cells, macrophages, neutrophils, and monocytes) and an increased proportion of erythroid cells in the β-thalassemia group. Cell subset analysis focused on subsets that closely communicated with erythroid cells. Enrichment analysis of driver genes in these subsets revealed iron metabolism-related pathways in Erythroid_02 and Erythroid_03, and a ferroptosis-related pathway in Erythroid_05. Thalassemia model mice exhibited stronger iron ion fluorescence signals in primary hepatocytes, increased levels of total iron, Fe, and Fe in liver tissue, and decreased serum iron (SI) levels, indicating iron metabolism disorders. Reverse transcription polymerase chain reaction (RT-PCR) results showed differential gene expression, with BCL2L1, Hepb1, and Prdx6 downregulated and Spta1 and Snca upregulated in the TDT model group. This study comprehensively characterizes TDT at the cellular and molecular levels, offering insights into its pathogenesis and identifying potential therapeutic targets.

Article	Year
Combined hearing screening and genetic screening of deafness among Hakka newborns in China. International journal of pediatric otorhinolaryngology\| PubMed ID: 32574949	2020
Genetic biomarkers and crucial cell subsets of iron metabolism in Beta-Thalassemia: insights from bioinformatics and experimental validation. Annals of hematology\| PubMed ID: 40956434	2025

Xiangxing Zeng

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