Impaired Erythropoietin Response to Anemia in Patients with Lymphocytic Malignancies

Patients with lymphocytic malignancies like Non-Hodgkin's lymphoma (NHL), multiple myeloma (MM), and chronic lymphocytic leukemia (CLL) are often complicated with anemia. In this prospective study, we devised a carefully controlled erythropoietin (Epo) level measurement in anemic or non-anemic patients with lymphocytic malignancies, in order to determine whether the response of Epo was decreased in anemic patients.

PERIPHERAL BLOOD CD34^+ CELL MOBILIZATION IN 42 PATIENTS WITH SEVERE AUTOIMMUNE DISEASE

Objective To evaluate the feasibility and safety of peripheral CD34+ cell mobilization in patients with severe autoimmune disease. Methods Forty-two patients underwent a total of 46 mobilizations by the regimen of cyclophosphamide 2-3 g/m2 +recombinant human granulocyte colony stimulating factor (rhG-CSF) 5 μg·kg-1·d-1. The positive selection of CD34+ cell was performed through the CliniMACS. Results In 8.1±2.3 days after administration of cyclophosphamide, the peripheral white blood cell and mononuclear cell (MNC) decreased to the lowest level. In 3.7±1.6 days after injection of rhG-CSF, the peripheral absolute MNC and CD34+ cell counts were 0.95×109/L and 0.035×109/L, respectively. After 2.4±0.6 times of leukapheresis, there gained 4.46×108/kg of MNC and 5.26×106/kg of CD34+, respectively. After mobilization, the underlying diseases were ameliorated more or less. In systemic lupus erythematosus (SLE) patients, SLE Disease Activity Index (SLEDAI) decreased from a median of 17 to 3 (P<0.01). In rheumatic arthritis patients, an American College of Rheumatology criteria for 20%(ACR20) response was achieved in all five patients. Totally, 17.4% of patients whose absolute neutrophil count <0.5×109/L suffered infection, and 31.0% of patients had bone pain after the injection of rhG-CSF. Two patients suffered severe complications, one with acute renal failure and recovered by hemodialysis, the other died of thrombotic thrombocytopenic purpura. Failed mobilization occurred in three patients. Conclusions Sufficient CD34+ cells can be mobilized by low dose of cyclophosphamide and rhG-CSF. CD34+ cell mobilization for treatment of severe autoimmune disease not only is appropriate in both effectiveness and safety but ameliorates disease also.

Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

Background：H syndrome （OMIM 612391） is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India.The syndrome is caused by mutations in solute carrier family 29,member 3 （SLC29A3）,the gene encoding equilibrative nucleoside transporter 3.The aim of this study was to identify pathogenic SLC29A 3 mutations in a Chinese patient clinically diagnosed with H syndrome.Methods：Peripheral blood samples were collected from the patient and his parents.Genomic DNA was isolated by the standard method.All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction （PCR）-amplified and the PCR products were subjected to direct sequencing.Results：The patient,an 18-year-old man born to a nonconsanguineous Chinese couple,had more extensive cutaneous lesions,involving both buttocks and knee.In his genomic DNA,we identified a novel homozygous insertion-deletion,c.1269_1270delinsA,in SLC29A3.Both of his parents were carriers of the mutation.Conclusions：We have identified a pathogenic mutation in a Chinese patient with H syndrome.

Aortic aneurysm and chronic disseminated intravascular coagulation： a retrospective study of 235 patients

Chronic disseminated intravascular coagulation （DIC） is a rare but devastating complication of aortic aneurysm （AA）. This study investigated the clinical manifestations, laboratory findings, and treatment of patients with AA-associated chronic DIC （AA-DIC） and explored the mechanisms, duration, and therapeutic response of AA-DIC. We retrospectively reviewed the medical records of 235 AA patients admitted at the Peking Union Medical College Hospital between September 2009 and January 2015. The patients were classified as those with DIC （AA-DIC） and those without DIC （non-DIC）. The AA-DIC group showed a significantly higher proportion of female patients and a significantly longer AA disease course than the non-DIC group did. The AA-DIC patients presented mural thrombi, dissecting aneurysms, a family history of AA, and diabetes significantly more frequently than the non-DIC patients did. Furthermore, multiple regression analyses revealed that sex, mural thrombus, aneurysm type, diabetes, and stent surgery are possible independent risk factors for AA-DIC patients. Fifty-two （22.1%） patients presented AA-DIC. Among these patients, 43 had non-typical DIC and 9 had typical DIC; the mortality rate of the latter was 22.2%. The mean age of the patients with typical DIC was significantly higher than of that of patients with non-typical DIC. The non-typical DIC patients also presented abnormal coagulation disorders of varying degrees. Furthermore, heparin or low-molecular-weight heparin improved the clinical symptoms and laboratory parameters in patients with AA and typical DIC. Thus, chronic DIC should be considered in patients with AA.