Objective:To investigate the efficacy of allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia associated with 11q23/MLL.Methods:Retrospection and analysis 50 cases of acute myeloid leukemia with 11q23/MLL and who were treated with allogeneic hematopoietic stem cell transplantation(allo-HSCT)in our hospital from September 2012 to December 2019. The efficacy was evaluated by analyzing the transplantation success rate, graft-versus-host disease rate, infection rate, transplant-related mortality(TRM), accumulative recurrence rate, disease-free survival rate(DFS), and overall survival rate(OS).Results:Except for 1 patient had an unsuccessful stem cell transplantationas the result of multiple organ failure, the remaining 49 patients were successfully transplanted. The median time of leukocyte transplantation was 15(9~18)days, and the median time of platelet transplantation was 13(8~33)days. Bone marrow was assessed 28 days after transplantation, and 49 patients were in CR status. The median follow-up time was 38(3~79)months. Between remission group and non-remission group after transplantation, the 3-year OS rates were(83.3±10.8)%, (30.9+ 8.2)%( P=0.002)and the 3-year DFS rates were(83.3+ 10.8)%, (28.4±8.0)%( P=0.003), respectively. Conclusions:Allogeneic hematopoietic stem cell transplantation is an effective method for the treatment of 11q23/MLL rearranged AML. Patients in remission before transplantation have a higher survival rate, and recurrence after transplantation is the primary problem currently faced.

Objective To evaluate the diagnostic value of quantitative detection of cytomegalovirus (CMV) DNA from different sources [plasma, sputum and bronchoalveolar lavage fluid(BALF)] for CMV pneumonia after allogeneic hematopoietic stem cell transplantation. Methods Clinical data of 405 recipients undergoing allogeneic hematopoietic stem cell transplantation were retrospectively analyzed. Among them, 19 recipients diagnosed with CMV pneumonia were assigned into the CMV pneumonia group, and 229 recipients with CMV viremia alone, 11 recipients without CMV pneumonia who received fiberoptic bronchoscopy and 16 recipients diagnosed with bacterial or fungal pneumonia based on pathogenic evidence receiving sputum culture were assigned into the control A, B and C groups, respectively. The incidence of CMV pneumonia was summarized. The CMV DNA load of specimens from different sources (plasma, sputum and BALF) of recipients with CMV pneumonia was analyzed. The clinical prognosis of recipients with CMV pneumonia was evaluated. Results Among 405 recipients undergoing allogeneic hematopoietic stem cell transplantation, 19 cases developed CMV pneumonia, and the overall incidence of CMV pneumonia was 4.7%(19/405). The CMV DNA load in the plasma, sputum and BALF of recipients with CMV pneumonia was higher than those in the control A, B and C groups (all P < 0.05). In the 19 recipients, 12 cases were cured after antiviral treatment and 7 died from treatment failure(3 cases abandoned treatment). The fatality was 37%(7/19). Conclusions Quantitative detection of CMV DNA in the plasma, sputum and BALF may increase the diagnostic rate of CMV pneumonia, thereby improving clinical prognosis of recipients undergoing allogeneic hematopoietic stem cell transplantation.

Clinical data and follow-up of a case of congenital disorder of glycosylation type Ia (CDG-Ia) combined with dilated cardiomyopathy admitted to the Department of Cardiology, Children′s Hospital of Nanjing Medical University were analyzed retrospectively.The 5-year-old female patient was admitted in December 2016 due to recu-rrent shortness of breath for 2 months.Clinical symptoms and signs included repeated attacks of shortness of breath, physical retardation, malnutrition, binocular esotropia, multiple episodes of hypoglycemia, hepatosplenomegaly, hypotonia and other multi-system damages.Cardiac echocardiography suggested the feature of dilated cardiomyopathy, including the significant enlargement of the left ventricle, and decreased systolic function.Genetic testing revealed a compound heterozygous mutation in the PMM2 gene, and as a result, the patient was diagnosed as CDG-Ia.The patient′s condition improved after symptomatic treatments such as Cedilanid, Dopamine, Dobutamine, Furosemide, as well as support treatments like myocardium nutrition, blood sugar maintenance, liver protection, etc.After discharge, the patient was given oral Digoxin, Betaloc, Captopril and diuretics, and hypoglycemia-controlling agents.The patient was followed up every 3-6 months.After more than 2 years of follow-up, the heart function and heart enlargement gradually returned to normal.During the Corona Virus Disease 2019 outbreak, self-withdrawal continued for 2 months.Re-examinations showed decreased cardiac function and enlarged left ventricle again.Medications were resumed again, and the patient was followed up closely.This case report suggested that CDG-Ia may be associated with dilated cardiomyopathy, and the cardiac phenotype may be improved by symptomatic supportive treatment.

Objective: To explore the excellent methods for aesthetic repair of the donor sites of flaps. Methods: From January 2013 to March 2018, 120 patients (94 males and 26 females, aged from 3 to 60 years) were admitted to the Department of Burns of Beijing Jishuitan Hospital. Wounds areas after debridement or removing scar were ranged from 8.0 cm×3.5 cm to 24.0 cm×18.0 cm. Twenty patients with facial and neck scar were repaired with expanded flaps, including 4 scalp flaps, 8 supraclavicular flaps, 4 deltoid flaps, and 4 trapezius myocutaneous flaps. The flaps in ideal donor sites were selected to repair the wounds in 40 patients, including 20 cases of hand wounds or scars repaired with inguinal flaps, 10 children of foot skin defects or scars repaired with cross inguinal skin flap, 10 cases of knee joint wounds repaired with medial or lateral thigh flaps. The optimal flap design was used to repair wounds in 50 patients. Among the patients, wounds of 36 patients were repaired with relaying flaps, including donor sites of free anterolateral thigh flaps of 8 patients repaired with anteromedial thigh perforator flaps and donor sites of free anterolateral thigh flaps of 8 patients repaired with ilioinguinal flaps or superficial abdominal artery flaps, and donor sites of flaps of 20 patients repaired with peroneal perforator relaying flaps. Besides, wounds of 9 patients were repaired with free lobulated anterolateral thigh flaps, and wounds of 5 patients were repaired with modified V-Y propelling latissimus dorsi myocutaneous flaps. The donor sites of flaps were repaired with allogenic acellular dermal matrix combined with autologous split-thickness skin grafts in 10 cases. The areas of the flaps or myocutaneous flaps were ranged from 6.0 cm×4.0 cm to 30.0 cm×20.0 cm. The survival of flap, myocutaneous flap, or skin graft and the repair of donor site after operation and during follow-up were observed. Results: Blood flow obstacle at 0.5 cm to the distal margin of the flap occurred in 1 patient repaired with expanded flap, which were healed after dressing change. Blood supply disorder occurred at the tip of the anteromedial thigh perforator flap of 1 patient repaired by optimal flap design, which were healed completely after second debridement and restitching. The other flaps or myocutaneous flaps survived well. The allogenic acellular dermal matrix and the autologous split-thickness skin graft survived with good color and texture. During follow-up of 3 months to 4 years, the donor sites of flaps had good appearance, only with linear scar and the function recovered well. The donor sites of skin grafts had no scar hyperplasia, only with scattered pigmentation. Conclusions According to the characteristics of donor sites of flaps, individualized and reasonable design before the operation such as pre-expanding of the flaps, selecting the ideal donor sites, optimization of the flap design or allogenic acellular dermal matrix combined with autologous split-thickness skin graft to repair donor sites of flaps can minimize the damage for function and appearance of donor sites of flaps and achieve aesthetic effects of donor sites of flaps.

Objective To investigate the clinical efficacy of pretreatment regimen containing idarubicin (IDA) in allogeneic hematopoietic stem cell transplantation (allo-HSCT) for high-risk refractory leukemia. Methods A total of 116 patients with high-risk refractory leukemia who received allo-HSCT treated with 7 types of IDA-containing pretreatment regimes were enrolled in this study. The implantation rate of 116 recipients was summed up. The 2-year overall survival (OS), 2-year disease free survival (DFS), cumulative recurrence rate, recurrent mortality, transplantation related mortality (TRM), cumulative incidence of acute graft-versus-host disease (aGVHD) and chronic graft-versus-host disease (cGVHD) were statistically analyzed by Kaplan-Meier survival curve. Results All 116 recipients successfully implanted. The median follow-up time was 28 (7-70) months. Among them, 64 recipients survived, the 2-year OS was 55.2%, 2-year DFS was 51.7%, 2-year recurrent mortality was 23.3% and 2-year TRM was 18.1%. Among 116 recipients, 72 cases suffered from aGVHD. The 2-year cumulative incidence rate of aGVHD was 62.1% including 20 cases of grade Ⅲ-Ⅳ aGVHD, the 2-year cumulative incidence rate was 17.2%. Among 116 recipients, 59 cases presented with cGVHD. The 2-year cumulative incidence rate was 55.4%, of which the 2-year cumulative incidence rate of extensive cGVHD was 14.7%. Among 116 recipients, 30 cases recurred with a 2-year cumulative recurrence rate of 25.9%. Conclusions IDA-containingpretreatment regime has high safety and effectiveness, and can be used as an effective pretreatment regime for transplantation preprocessing in patients with high-risk refractory leukemia.

Objective:To analyze the epidemiological characteristics of inpatients with high-voltage electrical burns on the wrist in Beijing Jishuitan Hospital (hereinafter referred to as the author′s unit), so as to provide reference for the prevention and treatment of high-voltage electrical burns on the wrist.Methods:The medical records of inpatients suffered from high-voltage electrical burns on the wrist in the author′s unit from January 2008 to December 2019 were collected. The patients′ gender, age, population category, injury situation, injury season, total burn area, electrical burn type on the wrist of the affected limbs, the time from injury to first flap/myocutaneous flap transplantation, vascular reconstruction and flap/myocutaneous flap transplantation of the affected limbs, the total amputation rate of the affected limbs and the amputation rate of the affected limbs with type Ⅲelectrical burns on the wrist, the number of operation, postoperative infection rate of flap/myocutaneous flap, length of hospital stay, hospitalization expense, and treatment outcome were retrospectively analyzed. Comparison of the aforementioned statistical items between patients admitted from January 2008 to December 2013 (hereinafter referred to as the pre-stage) and January 2014 to December 2019 (hereinafter referred to as the post-stage) except gender, the total amputation rate of the affected limbs, treatment outcome were performed. Data were statistically analyzed with chi-square test, Fisher′s exact probability test, and Wilcoxon rank-sum test.Results:During the 12 years, a total of 169 patients with high-voltage electrical burns on the wrist were admitted to the author′s unit, including 162 males and 7 females, aged (35±13) years, and 75.15% (127/169) of patients were 21-50 years old. The top three groups in population category from high to low were workers, migrant workers, and primary and secondary school students, accounting for 48.52% (82/169), 28.99% (49/169), and 9.47% (16/169), respectively. At work of non-electric power accounted for 47.93% (81/169) and ranked the first in the proportion of injury situation. The injury occurred mostly in summer and autumn, accounting for 39.05% (66/169) and 28.99% (49/169), respectively. About 65.09% (110/169) of the patients were with total burn area less than 10% total body surface area. There were totally 216 affected limbs with high-voltage electrical burns on the wrist, of which the numbers of wrist with type Ⅲ and type Ⅳ injury were 25 (11.57%) and 21 (9.72%), respectively. The time from injury to first flap/myocutaneous flap transplantation was 6.00 (3.75, 8.00) d. There were 45 affected limbs operated with vascular reconstruction, 75 affected limbs transplanted with pedicled axial flap, and 86 affected limbs transplanted with free flap/myocutaneous flap. The total amputation rate of affected limbs was 12.96% (28/216), and the amputation rate of the affected limbs with type Ⅲ electrical burns on the wrist was 28% (7/25). The number of operation was 4 (3, 5) times, the postoperative infection rate of flap/myocutaneous flap was 7.18% (13/181), the hospitalization time was 39.00 (25.00, 50.00) d, and the hospitalization cost was 123 553.00 (50 656.50, 216 003.00) yuan. Compared with those of the pre-stage, the time from injury to first flap/myocutaneous flap transplantation was significantly shortened ( Z=-4.038, P<0.01), the ratio of free flap/myocutaneous flap transplantation on affected limbs was significantly increased ( χ2=13.478, P<0.01), the ratio of pedicled axial flap transplantation on affected limbs was significantly decreased ( χ2=10.242, P<0.01), the number of operation was significantly reduced ( Z=-5.903, P<0.01), the postoperative infection rate of flap/myocutaneous flap was significantly decreased ( χ2=4.492, P<0.05), the length of hospital stay was significantly shortened ( Z=-2.723, P<0.01), and the hospitalization expense was significantly decreased among patients hospitalized in the post-stage ( Z=-2.121, P<0.05). The other items were close between patients hospitalized in the pre-stage and those in the post-stage. Conclusions:Men were more likely than women to suffer from high-voltage electrical burns on the wrist in the author′s unit. Young workers and migrant workers may be the key groups for the prevention of high-voltage electrical burns on the wrist. It is very important to strengthen the management of high voltage safety education for non-electric power staff, warn and protect the surrounding area of high voltage environment, and prohibit non staff for entering the high voltage environment, especially in summer and autumn. In the last 6 years, the patients with high-voltage electrical burns on the wrist may benefit from the active vascular reconstruction at early stage and free flap/myocutaneous flap repair in the author′s unit.

Objective: To investigate the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of leukemia patients also suffering from central nervous system leukemia (CNSL) . Methods: A total of 48 leukemia patients with central nervous system leukemia admitted to our hospital from May 2012 to December 2017 were retrospectively analyzed. Results: ① Including 22 cases of acute lymphocytic leukemia (ALL) , 21 cases of acute myeloid leukemia (AML) , and 5 cases of chronic myelogenous leukemia (CML) . Before transplantation, 19 patients achieved complete remission (CR) , and the rest 29 ones without remission. ②The conditioning regimen used TBI as the main protocol, and 6 patients were combined with whole brain and total spinal cord radiotherapy, 2 with Cyber knife treatment, and children with modified IDA combined with BUCY. ③All 48 patients were successfully transplanted, the median time for leukocyte engraftment was 14 (10-23) days, the median time for platelet transplant 16 (6-78) days. ④Bone marrow was evaluated 28 days after transplantation, all 48 patients reached CR, and DNA testing confirmed that they were all full donor chimerism. ⑤The median follow-up was 14 (2-69) months. Of them, 28 cases survived, 10 relapsed and the rest 3 had recurrence of CNSL after transplantation. One year after allo-HSCT, the overall survival (OS) of CR and non-CR groups were (77.3±10.0) % and (57.6±9.3) % (P=0.409) , respectively, the disease-free survival rates (DFS) were (71.2±11.0) % and (53.9±9.5) % (P=0.386) , respectively. The 1-year OS rates of ALL and AML groups after transplantation were (54.2±10.7) %, (80.1±8.9) %, respectively (P=0.200) , and DFS rates were (49.2±10.8) %, (75.0±9.7) % (P=0.190) , respectively. Conclusion Allo-HSCT was safe and effective for leukemia patients with CNSL.

OBJECTIVE: To analyze the clinical features of chronic myeloid leukemia (CML) with T315 I mutation (CML-T315I) and compare the effectiveness of different treatments. METHODS: We retrospectively analyzed the clinical data and outcomes of 19 patients with CML-T315I receiving different treatments. The T315 I mutations in these patients were detected by examination of BCR-ABL kinase domain (KD) mutation by RTQ-PCR and Sanger sequencing. The relapse following the treatments, defined as hematological, cytogenetic and molecular biological recurrences, were analyzed in these patients. RESULTS: Of the 19 patients with CML-T315I, 14 (73.7%) were in CML-CP stage at the initial diagnosis, and 13 (81.2%) were high-risk patients based on the Sokal scores. All the 19 patients were treated with TKI after the initial diagnosis, and during the treatment, 15 (78.9%) patients were found to have additional chromosomal aberrations, and 10 (52.6%) had multiple mutations; 13 (68.4%) of the patients experienced disease progression (accelerated phase/blast crisis) before the detection of T315I mutation, with a median time of 40 months (5-120 months) from the initial diagnosis to the mutation detection. After detection of the mutation, 12 patients were treated with ponatinib and 7 were managed with the conventional chemotherapy regimen, and their overall survival rates at 3 years were 83.3% and 14.2%, respectively ( < 0.001). CONCLUSIONS CML patients resistant to TKI are more likely to have T315I mutations, whose detection rate is significantly higher in the progressive phase than in the chronic phase. These patients often have additional chromosomal aberrations and multiple gene mutations with poor prognoses and a high recurrence rate even after hematopoietic stem cell transplantation. Long-term maintenance therapy with ponatinib may improve the prognosis and prolong the survival time of the patients.
Drug Resistance, Neoplasm ; Fusion Proteins, bcr-abl ; Humans ; Imidazoles ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Mutation ; Pyridazines ; Retrospective Studies

Objective: To investigate the content of persistent organic pollutants (POPs) in fish from Dongting Lake. Methods: Ten sample collection points were set in lakeside city Yueyang and Yuanjiang. In July (wet season) and November (dry season) of 2012, 13 common fish species were captured by convenience sampling in Dongting Lake. Two to three fish with similar weight were selected in each season for the same species of fish. After sample preparation and pretreatment, the contents of polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs), dioxin-like polychlorinated biphenyls (dl-PCBs), indicator polychlorinated biphenyls and polybrominated diphenyls ether (PBDEs) in the samples were determined by high resolution gas chromatographer-high resolution mass spectrometry. Toxicity Equivalents (TEQ) of PCDD/Fs and dl-PCBs were calculated according to the revised toxicity equivalent factor (TEF) of WHO in 2005. The contents of POPs were expressed by median and quavtile. The differences of POPs in fish in different periods were compared by Wilcoxon rank sum test. Results: The content of PCDD/Fs of fish in Dongting Lake in wet season was 12.397 (8.865, 24.964) pg/g, higher than that in the dry season 0.771 (0.490, 1.442) pg/g (P<0.001), and the toxicity equivalent quantity (TEQ) were 0.150 (0.066,0.528) and 0.143 (0.066, 0.235) pg-TEQ/g without statistically significant difference (P>0.05). For the fish in wet and dry season from Dongting Lake,∑dl-PCBs of fish were 66.475 (28.065, 77.794) and 24.205 (18.237, 90.777) pg/g, respectively, and the TEQ were 0.061 (0.046, 0.268) and 0.075 (0.054, 0.182) pg-TEQ/g; ∑ indicative PCBs were 237.764 (153.896, 335.483) and 119.711 (52.171, 408.696) pg/g, respectively; ∑ PBDEs were 106.513 (64.834, 164.860) and 86.837 (61.872, 177.108) pg/g, respectively. The highest content of PCDD/Fs was found in grass carp (198.360 pg/g) in wet season. The higher content of PCBs was found in long-necked fish (2 332.509 pg/g) and PBDEs was found in pelteobagrus fulvidraco (343.857 pg/g), respectively. Conclusion A lower burden was found in fishes from Dongting Lake, and the content of POPs varied in different seasons and fishes.