Objective To explore the pathogenesis, medical characteristics, laboratory results, diagnosis, treatment, and prognosis of congenital element Ⅶ (FⅦ) deficiency. Methods Clinical information of 43 patients with congenital FⅦ deficiency diagnosed from April 1999 to September 2019 had been retrospectively examined. Outcomes There were 27 females and 16 males. Median age had been 16 (1-70) many years. Family history ended up being found in 6 cases. There were 29 (67.4%) cases with bleeding symptoms, common of which were mucocutaneous hemorrhaging (13 cases, 30.2%) , oral bleeding (13 cases, 30.2%) , and epistaxis (9 instances, 20.9%) . Menorrhagia occurred in 11 instances (47.6% of feminine customers who have been in fertile age) . Laboratory conclusions were described as significantly extended prothrombin time (PT) , regular partial thromboplastin time (APTT) , and reduced FⅦ task (FⅦ∶C) . Ten cases gotten gene mutation analysis and 3 brand new mutations had been found. Fourteen instances (32.6%) had been treated with prothrombin complex concentrates (PCC) , 12 (27.9%) with fresh frozen plasma (FFP) , and 3 (7.0%) with real human recombinant activated FⅦ (rFⅦa) . Twenty instances (46.5%) with no or moderate bleeding signs didn’t get any replacement therapy. Past bleeding symptoms recurred in 5 clients (11.6%) , 8 females however had heavy menstrual bleeding, and 9 clients (20.9%) had been lost to follow-up. Conclusion Many clients with congenital FⅦ deficiency have actually moderate or no bleeding symptoms, but tend to excessive bleeding after surgery or traumatization. There is absolutely no considerable correlation between FⅦ∶C and extent of hemorrhaging symptoms. Prophylaxis should always be used in clients with severe bleeding symptoms and rFⅦa is the very first choice. Gene mutation test is considerable for testing, diagnosis, and prognosis prediction associated with the disease.Objective To talk about the result and prognostic facets of hematopoietic stem cell transplantation (HSCT) in customers with T-lymphoblastic lymphoma (T-LBL) who have attained full remission (CR) and limited reaction (PR) after pediatric-like intense lymphoblastic leukemia (ALL) therapy. Practices Basic information and medical data of patients with T-LBL addressed in the hematologic center of Tangdu Hospital from January 2013 to January 2017 had been collected, and also the clients just who accomplished CR/PR were most notable research and retrospectively analyzed. Outcomes ①A total of 48 customers got pediatric-like each chemotherapy, among which 39 patients reached CR and 9 patients reached PR after 2 courses of induction chemotherapy. Auto-HSCT ended up being carried out in 14 cases and allo-HSCT in 7 situations, plus the hematopoietic purpose of all 21 patients had been effectively reconstructed after transplantation. ②The follow-up period had been 9-61 months, with a median of 31 months. The 3-year total survival (OS) price ended up being 61.0% (95% CI 53.herapy and HSCT has definite curative impact with reduced transplant-related mortality and more safety. In the transplantation team, there’s absolutely no considerable distinction of OS and PFS prices between patients obtaining auto-HSCT and patients getting allo-HSCT. Moreover, bone tissue marrow intrusion and no HSCT are both independent risk elements for long-lasting prognosis of patients.Objective To explore the functions and medical importance of gene mutations in customers with myelodysplastic syndromes with band sideroblasts (MDS-RS) . Techniques A total of 255 newly identified main MDS-RS patients were retrospectively reviewed from our center from January2001 to Summer 2019. SF3B1 gene mutations had been recognized by Sanger sequencing in 129 patients, and then generation sequencing (NGS) had been performed into the other 126 clients making use of a set of chosen 112-genes. Outcomes a complete of 193 (75.7%) clients presented with SF3B1 mutation, predominantly mutant at amino acid place 700 (K700E) (n=147, 76.2%) . Non-SF3B1 gene mutations were TET2 (16.7%) , ASXL1 (14.3%) , U2AF1 (11.1%) , TP53 (7.9%) , SETBP1 (6.3%) , and RUNX1 (6.3%) . RS 5%-0.05) . SF3B1 variant allele frequencies (VAF) had good correlation with marrow RS percentage but without analytical significance in RS 5%- less then 15% team (P=0.078, r=0.486) . SF3B1 mutant patients given higher marrow RS portion compared with wil) . The previous 3 teams revealed no considerable difference in OS in multiple evaluations. Nonetheless, the SF3B1 mutation but wild-type TP53 group had a better OS than wild-type SF3B1 but TP53 mutation group and wild-type SF3B1 and TP53 team, whereas the same OS in contrast to SF3B1 and TP53 mutation team. Conclusion SF3B1 mutations were common in MDS-RS patients with the most typical mutation at amino acid place 700 (K700E) . SF3B1 mutation ended up being an unbiased favorable prognostic adjustable, whereas TP53 mutation had been an independent bad variable. SF3B1 mutation could coordinate with TP53 mutation to get more sophisticated prognosis stratification in MDS-RS patients.Objective To compare the effectiveness selleck compound of autologous HSCT (auto-HSCT) with coordinated sibling donor (MSD) HSCT in Ph(+) ALL and supply a basis for the selection of transplantation strategy. Techniques We retrospectively investigated the outcomes of 78 adult clients with Ph(+) ALL who underwent auto-HSCT (n=31) and MSD-HSCT (n=47) in Institute of Hematology and Blood Diseases Hospital, WEBCAMS & PUMC, from January 2008 to December 2017. The general success (OS) rate, leukemia-free survival (LFS) rate, cumulative incidence of relapse (CIR) rate, nonrelapse mortality (NRM) rate, and also the effect of success of complete molecular reaction (CMR) within a few months and sustaining CMR up to transplantation (s3CMR) on transplantation strategy were investigated. Outcomes The median time of neutrophil and platelet reconstitution in auto-HSCT and MSD-HSCT groups were 12 (10-29) times vs14 (11-24) times (P=0.006) and 17.5 (10-62) days vs 7 (10-33) days (P=0.794) , respectively. Within the MSD-HSCT group, the occurrence of Ⅱ-Ⅳ and Ⅲ-Ⅳ intense graft-versus allogeneic transplantation may be more effective from lower relapse.Objective To compare differences of autologous and unrelated donor stem cell transplantation (auto-HSCT and URD-HSCT) for adults with major acute myeloid leukemia (AML) in first complete remission (CR(1)) from just one center and also to explore the right customers for the 2 forms of transplant. Practices In this retrospective investigation, we learned grownups with major AML who obtained auto-HSCT and URD-HSCT from March 2008 to November 2018. Overall survival (OS) , leukemia-free success (LFS) , relapse, transplant-related death (TRM) , and hematopoietic reconstitution had been compared together with the prognostic value of cytogenetics. Outcomes an overall total of 147 adult clients had been enrolled in this research (n=87 for auto-HSCT and n=60 for URD-HSCT) . Standard characteristics were comparable involving the 2 teams.
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