Juvenile hemochromatosis is an autosomal recessive disease characterized by progressive tissue iron overload which leads to irreversible organ damage and even death.This disease is mainly caused by mutations in two genes:hemojuvelin gene and hepcidin gene.Different mutations have different phenotype.The two genes may act as modifying genes in HFE hemochromatosis.Hepcidin secreted by liver plays a central role in the regulation of iron homeostasis.HJV can act as a bone morphogenetic protein(BMP)co-receptor which is required for HJV to regulate hepcidin expression and iron homeostasis.Recent researches suggest that the bone morphogenetic protein(BMP)signaling pathway mediated by HJV is a significant mechanism for HJV to regulate hepcidin expression and iron homeostasis.HJV mutant impaires BMP signaling which results in hepcidin expression decrease and abnormal iron metabolism.

Objective To illustrate the clinical relevance of distinct PML-RARα fusion gene isoforms in acute promyelocytic leukemia (APL). Methods The nested reverse transcriptase polymerase chain reaction (RT-PCR) was used to detect the long (L) or short (S) PML-RARα fusion gene isoforms in 92 newly diagnosed APL so as to evaluate the clinical feature, therapeutic reaction and prognosis of the two fusion gene isoforms. Results PML-RARα fusion gene was positive in all 92 APL patients, of which 52(56.5 %) was L type and 40 (43.5 %) was S type. There were no significant differences between L type and S type in the aspect of sex, age, white blood cell count,the percentage of bone marrow blasts plus promyeloeytes and chromosome before treatment. And there were no significant differences between the two isoforms in complete remission (CR) rate, the time of getting CR as well as the occurrence of retinoic acid syndrome (RAS), disseminated intravascular coagulation (DIC), intraeranial hemorrhage. Also, there were no significant differences in overall survival rate (OS) and relapse-free survival rate (RFS) between the two isoforms. Conclusion PML-RARα fusion gene isoforms in APL were not correlated with clinical therapeutic effect or prognosis.

Objective:To predict the sepsis patients with bad outcomes in short term and help clinical physicians to take intervention measures to reduce the mortality.Methods:A total of 900 patients with sepsis who were hospitalized in the Dongyang Peoples’ Hospital between 1st Jan 2013 and 30th Mar 2021 had been involved in this study. Information including gender, age and examination results of first time within 24 hours following hospitalization were collected. Independent risk factors of death in 30 days were screened by logistic regression analysis and further confirmed by stepwise regression analysis. Based on the screened variables, nomogram prediction model was established. Finally, the prediction model was evaluated for its prediction power by the area under the curve of receiver operating characteristic (AUC), calibration accuracy by GiViTI calibration curve and clinical effectiveness by decline curve analysis (DCA). The established prediction model was validated by using bootstrap assay.Results:Stepwise regression analysis results showed that B-type natriuretic peptide, lactic acid, albumin, oxygenation index, mean artery pressure, hematocrit and heart rate within 24 hours after hospitalization were significantly associated with death in 30 days among patients with sepsis. The AUC of prediction model was 0.846, with P of 0.886 in calibration curve, calibration slope of 1.0, R2 of 0.385, brier scaled value of 0.092 and DCA curve above the two extreme curves. In validation using bootstrap, the prediction model owned an AUC of 0.854, a P of 0.994 in calibration curve, a brier scaled value of 0.090, a calibration slope of 1.0 and a R2 of 0.389. Also, its DCA curve was above the two extreme curves. Conclusions:B-type natriuretic peptide, Lactic acid, albumin, oxygenation index, mean artery pressure, hematocrit and heart rate within 24 hours after hospitalization were independent risk factors of death in 30 days among patients with sepsis. The established prediction model in this study owned good prediction power of sepsis patients who owned high risk of death in 30 days.