Background: The aim of this study is to investigate the profiles of gut microbiota and metabolites in acute myelocytic leukemia (AML) patients treated with/without chemotherapy.Methods: Herein, high‐throughput 16S rRNA gene sequencing was performed to analysis gut microbiota profiles, and liquid chromatography and mass spectrometry were performed to analysis metabolites profiles. The correlation between gut microbiota biomarkers identified by LEfSe and differentially expressed metabolites were determined by spearman association analysis.Results: The results showed the distinguished gut microbiota and metabolites profiles between AML patients and control individuals or AML patients treated with chemotherapy. Compared to normal populations, the ratio of Firmicutes to Bacteroidetes was increased at the phylum level than that in AML patients, and LEfSe analysis identified Collinsella and Coriobacteriaceae as biomarkers of AML patients. Differential metabolite analysis indicated that, compared to AML patients, numerous differential amino acids and analogs could be observed in control individuals and AML patients treated with chemotherapy. Interestingly, spearman association analysis demonstrated that plenty of bacteria biomarkers shows statistical correlations with differentially expressed amino acid metabolites. In addition, we found that both Collinsella and Coriobacteriaceae demonstrate remarkable positive correlation with hydroxyprolyl‐hydroxyproline, prolyl‐tyrosine, and tyrosyl‐proline.Conclusion: In conclusion, our present study investigated the role of the gut‐microbiome–metabolome axis in AML and revealed the possibility of AML treatment by gut‐microbiome–metabolome axis in the further.

Objective: This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype–phenotype correlations in Chinese patients with hereditary spherocytosis (HS). Methods: Retrospective analysis of clinical data and molecular genetic characteristics was conducted on patients diagnosed with HS at Jiangxi Provincial Children's Hospital, the Second Affiliated Hospital of Nanchang University, Pingxiang People's Hospital and The Third People's Hospital of Jingdezhen between November 2017 and June 2023. Statistical analyses were performed to compare and analyze the red blood cell (RBC), hemoglobin (HB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) data between and within groups based on different mutations and age groups (< 14 and ≥ 14 years). Results: A total of 34 HS patients were included in this study, comprising 22 children (64.70%) and 12 adults (35.30%). The probands who underwent genetic testing were derived from 34 unrelated families. Thirty-two variants were tested and 9 of them are novel. Eighteen cases had ANK1 variants, 15 had SPTB variants, and 1 had SLC4A1 variant. 25 patients performed core family members underwent genetic testing, 17 (68.0%, 17/25) were de novo, 5 (20.0%, 5/25) were maternally inherited, and 3 (12.0%, 3/25) were paternally inherited. ANK1-HS patients exhibited more severe anemia compared to cases with SPTB-HS, showing lower levels of RBC and HB (P < 0.05). Anemia was more severe in patients diagnosed in childhood than in those diagnosed in adulthood. Within the ANK1-HS group, MCH levels in adult patients was significantly higher than those in children (P < 0.05), while there were no significant differences in RBC, HB, MCV, and MCHC levels between two groups. Adult patients with SPTB-HS had significantly higher levels of RBC, HB, and MCH than pediatric patients (P < 0.05), while MCV and MCHC levels showed no significant statistical differences. Conclusion: This study conducted a comparative analysis of phenotypic characteristics and molecular genetics in adult and pediatric patients diagnosed with HS, confirming that pediatric ANK1-HS patients exhibit a more severe anemic phenotype compared to SPTB-HS patients, while the severity of HS in adults does not significantly differ between different causative genes.

Clonal cytopenia of undetermined significance (CCUS) has the characteristics of high-risk transformation into myelodysplastic syndromes. At present, there are few effective treatments for CCUS, and there is no consensus or evidence-based recommendation. We present a case demonstrating a rapid, significant and sustained response to combined treatment with luspatercept and eltrombopag, following the failure of cyclosporin and androgen therapy. Even after discontinuing luspatercept for 10 months, trilineage haematopoiesis remained normal with the use of cyclosporin and other haematopoietic stimulants. This case suggests that the inhibition of transforming growth factor-β could potentially have an immunomodulatory effect, thereby promoting the recovery of haematopoietic function. Luspatercept, along with Acalabrutinib or Cyclosporine, may synergistically stimulate haematopoiesis.

Background: Observational studies have associated obstructive sleep apnea (OSA) with a higher risk of various cancers; however, causal relationships have not yet been definitively established.Methods: Our study evaluated the causal impact of OSA on the risk of developing 22 different types of cancer using univariable and multivariable Mendelian randomization (MR). OSA‐associated genetic instruments were obtained from the FinnGen study, which incorporates 38,998 OSA individuals and 336,659 non‐OSA individuals from European descent. Summary‐level data for 22 site‐specific cancers were estimated from large genetic consortia and UK Biobank. We used inverse‐variance weighting (IVW) as the primary analysis, along with several sensitivity analyses.Results: Univariable MR analyses indicated a causal relationship of genetic susceptibility to OSA on an increased risk of Barrett's esophagus (BE) and esophageal cancer (odds ratio [OR] = 1.32, 95% confidence interval [CI] = 1.07−1.62, p = 0.01), endometrial cancer (OR = 1.36, 95% CI = 1.16−1.60, p = 2.26E‐04), and its endometrioid subtype (OR = 1.28, 95% CI = 1.04−1.59, p = 0.02). Multivariable MR, accounting for possible confounders like drinking and smoking, confirmed the causal relationships of OSA on BE and esophageal cancer, and endometrial cancer.Conclusions: This study provided evidence regarding causal associations of OSA with higher risk of BE and esophageal cancer, and endometrial cancer.