Adult hemophagocytic syndrome with mutations in UNC13D and MYO5A genes: a case report and literature review / 中国综合临床

Objective:To explore the pathogenesis of primary hemophagocytic syndrome with UNC13D and MYO5A gene mutations.Methods:A case of adult hemophagocytic syndrome with gene mutation of UNC13D and MYO5A admitted to The 940th Hospital of the Joint Logistic Support Force of the PLA on January 28, 2022 was retrospectively analyzed in terms of laboratory examination, gene atlas of its close relatives and prognosis, and related literature was reviewed.Results:The patient was finally diagnosed with primary hemophagocytic syndrome, and chemotherapy was performed twice with hemophagocytic lymphohistiocytosis(HLH)-2004 regimen. The HLA matching of his cytoplasm was semi-compatible. Considering that his cytoplasm carried blood-macrophage related genes, it was not suitable to be selected as a donor, and there were no other suitable relatives. He was transferred to another hospital for allogeneic hematopoietic stem cell transplantation, but failed to receive allogeneic hematopoietic stem cell transplantation during telephone follow-up, and died.Conclusion:The gene mutation of primary hemophagocytic syndrome is the gold standard for the diagnosis of primary HLH. There may be dual gene inheritance pattern in primary HLH, and the combination of immune disorder caused by viral infection and genetic factors may lead to the pathogenesis of primary HLH.

Clinical research progress of ibrutinib in the treatment of chronic lymphocytic leukemia / 中国基层医药

Chronic lymphocytic leukemia(CLL) is a heterogeneous mature B lymphocytic tumor.The apoptosis of mature lymphocyte is inhibited and clonal proliferation of mature lymphocyte aggregates in blood,bone marrow,spleen and lymph nodes,resulting in a class of inert hematological tumors.At present,the clinical pathogenesis is not completely clear,environmental and occupational factors do not occupy a major position. Studies have shown that long -term exposure to low-frequency electromagnetic fields may be associated with its incidence,but patients with primary and secondary relatives of lymphatic malignancies increased incidence. Many families still have patients whose age is earlier and the disease is more serious.In recent years,with the continuous improvement of medical level,a variety of treatment methods for chronic lymphoblastic leukemia have emerged,including a variety of new drugs.Ibutinib is the world＇s first marketed Bruton＇s tyrosine kinase(BTK) inhibitor,for more patients with chronic lymphoblastic leukemia has brought the gospel.This article reviews the clinical research progress of ibrutinib in treating CLL.

Treatment research progress of primary immune thrombocytopenia / 中国基层医药

Primary immune thrombocytopenia is an autoimmune disease characterized by reduced platelets, accompanied by or without skin mucous bruises,epistaxis,internal bleeding,etc.Recent years,the treatment of primary immune thrombocytopenia developed very quickly, including the appearance of platelet receptor agonist - Eltrom-bopag.Here,we reviewed the treatment and research development of primary immune thrombocytopenia.

Clinical research progress of ibrutinib in the treatment of chronic lymphocytic leukemia / 中国基层医药

Chronic lymphocytic leukemia(CLL) is a heterogeneous mature B lymphocytic tumor.The apoptosis of mature lymphocyte is inhibited and clonal proliferation of mature lymphocyte aggregates in blood, bone marrow, spleen and lymph nodes, resulting in a class of inert hematological tumors.At present, the clinical pathogenesis is not completely clear, environmental and occupational factors do not occupy a major position.Studies have shown that long-term exposure to low-frequency electromagnetic fields may be associated with its incidence, but patients with primary and secondary relatives of lymphatic malignancies increased incidence.Many families still have patients whose age is earlier and the disease is more serious.In recent years, with the continuous improvement of medical level, a variety of treatment methods for chronic lymphoblastic leukemia have emerged, including a variety of new drugs.Ibutinib is the world's first marketed Bruton's tyrosine kinase(BTK) inhibitor, for more patients with chronic lymphoblastic leukemia has brought the gospel.This article reviews the clinical research progress of ibrutinib in treating CLL.

Treatment research progress of primary immune thrombocytopenia / 中国基层医药

Primary immune thrombocytopenia is an autoimmune disease characterized by reduced platelets, accompanied by or without skin mucous bruises,epistaxis,internal bleeding,etc. Recent years,the treatment of primary immune thrombocytopenia developed very quickly, including the appearance of platelet receptor agonist - Eltrom-bopag. Here,we reviewed the treatment and research development of primary immune thrombocytopenia.

Mechanism research progress of iron removal by eltrombopag / 中国医师进修杂志

Eltrombopag is a kind of human thrombopoietin receptor agonist, which is used to treat thrombocytopenia and severe aplastic anemia. In recent years, it highlights the huge advantage in iron removal. It regulates the acidification of glucuronidation in the body, removing it from feces and urine before iron conjugates to the liver, so as to effectively reduce the overload of iron in the body.

Rituximab in treatment of hematological system disorders / 中华全科医师杂志

Rituximab is a human/mouse chimeric monoclonal antibody against CD20 antigen of B cells.It is one of the earliest monoclonal antibodies successfully used in the treatment of malignant tumors.In recent years,a number of studies have shown that rituximab can induce apoptosis of CD20-expressing B lymphocytes through antibody-dependent cytotoxicity,complement-dependent cytotoxicity and direct apoptosis induction.Combined with chemotherapy,rituximab can significantly enhance the therapeutic effect on aggressive lymphoma.In addition,rituximab is also play an increasingly important role in the treatment of primary immune thrombocytopenia,autoimmune hemolytic anemia and other autoimmune diseases,neuromyelitis optica,and lymphocytic proliferative diseases after stem cell transplantation.

Clinical analysis of 20 cases with lower extremity deep venous thrombosis after gynaecological surgery / 中国基层医药

Objective To explore the causes,risk factors,diagnosis and control methods of LEDVT after gynaecological surgery. Methods The clinical data of 20 inpatients with LEDVT after gynaecological surgery were analyzed retrospectively. Results The LEDVT distribution related to the factors:1.operation time:<2 h 3cases (15%),2 ～3 h 5cases(25%),＞ 3h 12 cases(60%);2.operation manners:TAH 0.23%(4/1746);TVH 0.91%(9/984);RH and ovarian cytoreductive surgery 4.6%(5/106); Myomectomy 0.29%(2/691);patient age:85% for ＞ 50 years; 15% for ≤50 years.All the 20 patients were cured by means of positive treatment of thrombolysis and anticoagulation. Conclusion The patients who had the risk factors of LEDVT should strengthen the prevention and control cases actively,the standardized management could improve their prognosis significantly.