Analysis of the characteristics of primary acute myeloid leukemia with 11q23/KMT2A rearrangements in ninety patients / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical and prognostic characteristics of primary acute myeloid leukemia (AML) with 11q23/KMT2A rearrangements.@*METHODS@#Clinical data of 90 patients with primary AML and 11q23/KMT2A rearrangements were analyzed retrospectively.@*RESULTS@#By karyotyping analysis, 80 of the 90 patients had translocations involving 11q23/KMT2A, with t(9;11)(p22;q23), t(6;11)(q27;q23), t(10;11)(p12;q23) and t(11;19)(q23;p13) being the most common ones, while 10 cases were found to have non-translocation abnormalities. The overall complete remission (CR) rate was 75.6%, and patients with t(6;11) had lower CR rate compared with non-t(6;11) patients (47.1% vs. 82.2%, P = 0.005). After a median follow-up of 24.5 months, the patients receiving allo-hematopoietic stem cell transplantation (allo-HSCT) had significantly higher 3-year overall survival (OS) (80.3% vs. 16.6%, P < 0.001) and 3-year event-free survival (EFS) (73.5% vs. 16.3%, P < 0.001) compared with non-transplant patients. Patients with t(6;11) had the lowest 3-year OS (11.8% vs. 56.0%, P < 0.001) and 3-year EFS (5.9% vs. 53.8%, P < 0.001) compared with other type of abnormalities. No significant difference was noted in the survival between patients with t(9;11) and non-t(9;11) regardless whether they had received HSCT.@*CONCLUSION@#The clinical characteristics of primary AML with 11q23/KMT2A rearrangements are heterogeneous. Patients did not receive HSCT had poorer survival, particularly with the presence of t(6;11). Allo-HSCT could significantly improve the survival of such patients.

Progress of schistosomiasis control in People’s Republic of China in 2022 / 中国血吸虫病防治杂志

This report presented the endemic status of schistosomiasis and analyzed the data collected from the national schistosomiasis prevention and control system and national schistosomiasis surveillance program in the People’s Republic of China in 2022. Among the 12 provinces (municipality and autonomous region) endemic for schistosomiasis, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region continued to maintain the achievements of schistosomiasis elimination, and Sichuan and Jiangsu provinces maintained the criteria of transmission interruption, while Yunnan, Hubei, Anhui, Jiangxi and Hunan provinces maintained the criteria of transmission control by the end of 2022. A total of 452 counties (cites, districts) were found to be endemic for schistosomiasis in China in 2022, with 27 434 endemic villages covering 73 424 400 people at risk of infections. Among the 452 endemic counties (cities, districts), 75.89% (343/452), 23.45% (106/452) and 0.66% (3/452) achieved the criteria of elimination, transmission interruption and transmission control of schistosomiasis, respectively. In 2022, 4 317 356 individuals received serological tests for schistosomiasis, and 62 228 were sero-positive. A total of 208 646 individuals received stool examinations for schistosomiasis, with one positive and another two cases positive for urine microscopy, and these three 3 cases were imported schistosomiasis patients from Africa. There were 28 565 cases with advanced schistosomiasis documented in China by the end of 2022. Oncomelania hupensis snail survey was performed in 18 891 endemic villages in China in 2022 and O. hupensis snails were found in 6 917 villages (36.62% of all surveyed villages), with 8 villages identified with emerging snail habitats. Snail survey was performed at an area of 655 703.01 hm2 and 183 888.60 hm2 snail habitats were found, including 110.58 hm2 emerging snail habitats and 844.35 hm2 re-emerging snail habitats. There were 477 200 bovines raised in the schistosomiasis endemic areas of China in 2022, and 113 946 bovines received serological examinations for schistosomiasis, with 204 sero-positives detected. Among the 131 715 bovines received stool examinations, no positives were identified. In 2022, there were 19 726 schistosomiasis patients receiving praziquantel chemotherapy, and expanded chemotherapy was performed in 714 465 person-time for humans and 234 737 herd-time for bovines in China. In 2022, snail control with chemical treatment was performed at an area of 119 134.07 hm2, and the actual area of chemical treatment was 65 825.27 hm2, while environmental improvements were performed at an area of 1 163.96 hm2. Data from the national schistosomiasis surveillance program of China showed that the mean prevalence of Schistosoma japonicum infections was both zero in humans and bovines in 2022, and no S. japonicum infection was detected in O. hupensis snails. These data demonstrated that the endemic status of schistosomiasis continued to decline in China in 2022, with 3 confirmed schistosomiasis patients that had a foreign nationality and all imported from Africa, and the areas of snail habitats remained high. Further improvements in the construction of the schistosomaisis surveillance and forecast system, and reinforcement of O. hupensis survey and control are required to prevent the re-emerging schistosomiasis.

Progress of schistosomiasis control in People’s Republic of China in 2021 / 中国血吸虫病防治杂志

This report presented the endemic status of schistosomiasis and analyzed the data collected from the national schistosomiasis prevention and control system and national schistosomiasis surveillance sites in the People’s Republic of China at a national level in 2021. Among the 12 provinces (municipality and autonomous region) endemic for schistosomiasis in China, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region continued to consolidate the achievements of schistosomiasis elimination, and Sichuan and Jiangsu provinces maintained the criteria of transmission interruption, while Yunnan, Hubei, Anhui, Jiangxi and Hunan provinces maintained the criteria of transmission control by the end of 2021. A total of 451 counties (cites, districts) were found to be endemic for schistosomiasis in China in 2021, with 27 571 endemic villages covering 73 250 600 people at risk of infections. Among the 451 endemic counties (cities, districts), 75.17% (339/451), 22.17% (100/451) and 2.66% (12/451) achieved the criteria of elimination, transmission interruption and transmission control of schistosomiasis, respectively. By the end of 2021, 29 037 cases with advanced schistosomiasis were documented in China. In 2021, 4 405 056 individuals received serological tests and 72 937 were sero-positive. A total of 220 629 individuals received stool examinations and 3 were positive. In 2021, snail survey was performed in 19 291 endemic villages in China and Oncomelania snails were found in 7 026 villages, accounting for 36.42% of all surveyed villages, with 12 villages identified with emerging snail habitats. Snail survey was performed at an area of 686 574.46 hm2 and 191 159.91 hm2 snail habitats were found, including 1 063.08 hm2 emerging snail habitats and 5 113.87 hm2 reemerging snail habitats. In 2021, 525 878 bovines were raised in the schistosomiasis endemic areas of China, and 115 437 received serological examinations, with 231 positives detected. Among the 128 719 bovines received stool examinations, no positives were identified. In 2021, there were 19 927 schistosomiasis patients receiving praziquantel chemotherapy, and 729 113 person-time individuals and 256 913 herd-time bovines were given expanded chemotherapy. In 2021, snail control with chemicals was performed in 117 372.74 hm2 snail habitats, and the actual area of chemical treatment was 65 640.50 hm2, while environmental improvements were performed in snail habitats covering an area of 1 244.25 hm2. Data from the national schistosomiasis surveillance sites of China showed that the mean prevalence of Schistosoma japonicum infections were both zero in humans and bovines in 2021, and no S. japonicum infection was detected in snails. The results demonstrate that the overall endemic status of schistosomiasis remained at a low level in China in 2021; however, the progress towards schistosomiasis elimination was slowed and the areas of snail habitats rebounded mildly. Strengthening researches on snail diffusion and control, and improving schistosomiasis surveillance and forecast are recommended to prevent reemerging schistosomiasis.

Forensic Analysis of 9 Poisoning Death Cases Caused by Oral Administration of Diphenidol / 法医学杂志

OBJECTIVES@#To analyze the characteristics of diphenidol poisoning cases and to provide clues and technical means for the identification of such cases.@*METHODS@#Biological samples of 9 deaths caused by diphenidol poisoning were detected by ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS), and the characteristics of these cases were analyzed retrospectively.@*RESULTS@#Most of the deaths caused by diphenidol poisoning were young females. The dosage was between 60 and 300 tablets, and the mass concentration of diphenidol in the postmortem blood ranged from 0.87 to 99.00 μg/mL. There was no correlation between the dosage and the concentration of diphenidol in the blood.@*CONCLUSIONS@#Diphenidol poisoning has the characteristics of high concealment and lethality. More attention should be paid to suicide cases, and diphenidol should be recommended as a routine detection item to avoid missing detection.

Bibliometrics Analysis in English and Chinese Literature on Drowning in Forensic Medicine from 1991 to 2020 / 法医学杂志

OBJECTIVES@#To explore the research hotspots and development trends of the field of forensic drowning from 1991 to 2020 by bibliometrics methods.@*METHODS@#Based on Web of Science, CNKI database, Wanfang Data knowledge service platform, python 3.9.2, CiteSpace 5.8.R3, Gephi 0.9.2, etc. were used to analyze the publishing trends, countries/regions, institutions, authors and topics of the study on drowning.@*RESULTS@#A total of 631 English literature were obtained, including 59 articles from Chinese authors, and 386 Chinese literature were obtained. The Chinese and English journals with the largest number of related literatures were Chinese Journal of Forensic Science (80 articles) and Forensic Science International (106 articles), respectively. Japan published the most articles in English, and China ranked third. Osaka City Univ (Japan, 28 articles) published the most English articles, and Guangzhou Forens Sci Inst (China, 22 articles) ranked second. Among Chinese literature, Guangzhou Forens Sci Inst (32 articles) published the most. The topic analysis of Chinese and English literature showed that diatom examination, virtual autopsy, postmortem biochemical examination, the nature of death, and postmortem submersion interval were the hot spots of current research, but English literature had more studies on new technologies and methods, while Chinese literature was more inclined to practice, application and experience summary.@*CONCLUSIONS@#The number of literature in forensic medicine on drowning is relatively stable. The scope of international and domestic collaborations in this field is still limited. The automated examination of diatoms, the establishment of diatom DNA barcodes and virtual autopsy will be the most important research hotspots in the coming period and are expected to achieve breakthroughs in drowning diagnosis, drowning location inference, postmortem submersion interval estimation, etc.

Analysis of bleeding risk in percutaneous renal biopsy in Tibet / 北京大学学报(医学版)

OBJECTIVE@#To observe the postoperative bleeding after percutaneous renal biopsy (PRB) in Tibet, To analyze and summarize the risk factors associated with bleeding in high altitude patients to improve the safety of surgery.@*METHODS@#A retrospective analysis of 150 cases of PRB in the Department of Nephrology, People's Hospital of Tibet Autonomous Region from May 2016 to May 2018 were carried out, and the correlations between the potential risk factors (gender, age, blood pressure, hemoglobin, platelet, serum creatinine) and postoperative bleeding events were analyzed.@*RESULTS@#During the study period, the 150 patients receiving procedure of PRB were enrolled in our hospital, with an average age of (41.2±15.6) years, of whom 58.7% (88/150) were male, 41.3% (62/150) were female, and major bleeding complications occurred in 12 biopsies (8.0%, 12/150). Six cases for men and women, respectively. The mean age in the bleeding group seemed to be higher than that in the non-bleeding group [(48.3±20.0) years vs. (40.6±15.1) years, P=0.099]. There was no significant difference in the incidence of hypertension, hemoglobinemia, urea nitrogen and prothrombin time between the two groups. The level of serum creatinine in the hemorrhage group seemed to be higher than that in the non-bleeding group (P=0.090), and the time of the hemorrhagic group was longer than that in the non-bleeding group (P=0.069). The platelet count in the bleeding group was significantly lower than that in the non-bleeding group (P < 0.05). Multivariate Logistic regression analysis showed that the prolonged activation of partial prothrombin time and lower platelet count had a relatively high risk of bleeding, which was statistically significant (P=0.079, P=0.082).@*CONCLUSION@#PRB is safe and reliable on the whole in plateau areas; Old age, low platelet count, decreased renal function and prolonged activated partial coagulation time are related to postoperative bleeding of PRB, and hyperhemoglobin is not a risk factor for bleeding. High hemoglobin is not a risk factor for postoperative bleeding of PRB at high altitude.

National surveillance of Oncomelania hupensis in China, 2015—2019 / 中国血吸虫病防治杂志

Objective To analyze the monitoring data of Oncomelania hupensis in the national schistosomiasis surveillance sites of China from 2015 to 2019, so as to understand the changes of Oncomelania snail status in the schistosomiasis-endemic areas of China and to provide the scientific evidence for Oncomelania snail control. Methods According to the requirements of National Scheme for Schistosomiasis Surveillance in China (2014 Edition), national schistosomiasis surveillance sites were assigned in all schistosomiasis-endemic counties (cities, districts) and the potential endemic counties (cities, districts) in the Three Gorges Reservoir areas, and Oncomelania snail status was monitored according to different epidemic types. In endemic areas, Oncomelania snail survey was performed by means of systematic sampling and environmental sampling, and the occurrence of frames with Oncomelania snails and the prevalence of Schistosoma japonicum infections in Oncomelania snails were calculated, while in potential endemic areas, the risk of imported Oncomelania snails and Oncomelania snails in floating debris were monitored. Results Oncomelania snail survey was performed covering an area of 116 834.16 hm2 in the national schistosomiasis surveillance of China from 2015 to 2019, with 35 007.62 hm2 Oncomelania snail habitats identified. A total of 6 908 292 frames were surveyed during the 5-year period, and there were 364 555 frames detected with Oncomelania snails, with a 5.28% mean occurrence of frames with Oncomelania snails. Among 997 508 living Oncomelania snails captured, no S. japonicum infections were detected, and loop-mediated isothermal amplification (LAMP) assay detected 18 positive mixed Oncomelania snail samples. During the period from 2015 to 2019, 147.20 hm2 emerging Oncomelania snail habitats were identified, with an overall tendency towards a rise seen in the proportion of emerging Oncomelania snail habitats in plain regions with waterway networks (0.12% to 92.00%), a tendency towards a rise followed by decline seen in marshland and lake regions (0 to 96.72%), and a large fluctuation in hilly regions (0 to 88.49%). A total of 831.10 hm2 re-emerging Oncomelania snail habitats were found in the national schistosomiasis surveillance sites of China from 2015 to 2019, with an overall tendency towards a rise seen in the proportion of re-emerging Oncomelania snail habitats in marshland and lake regions (16.05% to 79.66%), an overall tendency towards a decline seen in hilly regions (19.25% to 81.00%), and a minor fluctuation in plain regions with waterway networks (1.10% to 10.14%). During the 5-year period from 2015 to 2019, a total of 48 656 kg floating debris were captured in 4 surveillance sites in the Three Gorges Reservoir areas, and 2 204 snails were found, with no Oncomelania snails identified. Conclusions The areas of Oncomelania snail habitats tended to be stable in the national schistosomiasis surveillance sites of China during the period from 2015 to 2019, however, there was a gradual rise in the area of Oncomelania snail habitats year by year, and LAMP assay identified positive Oncomelania snail samples, suggesting Oncomelania snail control is far from optimistic in China.

National surveillance of schistosomiasis morbidity in China, 2015—2019 / 中国血吸虫病防治杂志

Objective To understand the morbidity due to Schistosoma japonicum in national schistosomiasis surveillance sites of China from 2015 to 2019, so as to provide insights into schistosomiasis control and elimination and provide the scientific evidence for formulating the new scheme for schistosomiasis surveillance in China. Methods According to the requirements of National Scheme for Schistosomiasis Surveillance in China (2014 Edition), national schistosomiasis surveillance sites were assigned in all schistosomiasis-endemic counties (cities, districts) and the potential endemic counties (cities, districts) in the Three Gorges Reservoir areas, and S. japonicum infections were monitored in local residents, mobile populations and livestock according to different epidemic types. The sero-prevalence of S. japonicum infections, adjusted prevalence of human S. japonicum infections, characteristics of egg-positive individuals and prevalence of S. japonicum infections livestock were analyzed. Results S. japonicum infections were monitored in 453 schistosomiasis-endemic counties (cities, districts) from 13 provinces (municipalities, autonomous regions) and 4 potential endemic counties (cities, districts) from the Three Gorges Reservoir areas in China from 2015 to 2019. During the 5-year period from 2015 to 2019, the sero-prevalence of S. japonicum infections reduced from 3.35% to 1.63% among local residents and from 1.15% to 0.75% among mobile populations, while the adjusted prevalence of infections reduced from 0.05% to 0 among local residents and from 0.20% to 0.001 03% among mobile populations. There were significant differences in the sero-prevalence of S. japonicum infections among local residents and mobile populations in terms of province, occupation and age (all P values < 0.05). A total of 132 egg-positives were identified during the 5-year period, including 97 local residents (inter-quartile range for ages, 47 to 61 years), and 35 mobile populations (inter-quartile range for ages, 26 to 48 years), and there was a significant difference in the age distribution between local residents and mobile populations (P < 0.05). There were totally 6 bovines (5 in 2015 and 1 in 2016) identified with S. japonicum infections in national schistosomiasis surveillance sites of China, with no S. japonicum infections detected in bovines from 2017 to 2019. Conclusions The prevalence of schistosomiasis is very low in China. Further surveillance including more mobile surveillance sites seems justified to identify the risk of schistosomiasis as soon as possible and interrupt the transmission route, so as to facilitate the elimination of schistosomiasis in China.

Efficacy of Repetitive Transcranial Magnetic Stimulation on Cognitive Dysfunction after Traumatic Brain Injury: A Meta-analysis / 中国康复理论与实践

Objective:To evaluate the effect of repetitive transcranial magnetic stimulation (rTMS) on cognitive dysfunction after traumatic brain injury (TBI). Methods:Randomized controlled trials (RCTs) of rTMS for treating traumatic brain injury (TBI) patients with cognitive dysfunction were retrieved from the databases of PubMed, Embase, Web of Science, Cochrane Library, CNKI, Wanfang Database, VIP and SinoMed from the establishment of these databases to June, 2021. Two researchers independently screened the articles, extracted the data, and evaluated the quality. Meta-analysis was performed using RevMan 5.4. Results:A total of ten RCTs with 368 patients were included. Subgroup analysis showed that rTMS could improve the single cognitive function (SMD = 1.00, 95%CI 0.04 to 1.96, P = 0.04) but for overall cognitive function (SMD = 0.47, 95%CI -0.05 to 0.98, P = 0.08). rTMS was well tolerated, that the adverse reactions such as dizziness and mild headache were not significantly different from the control group (RR = 1.67, 95%CI 0.98 to 2.86, P = 0.06). Conclusions:It is still uncertain in the effectiveness of rTMS on cognitive dysfunction after TBI, but it is well tolerated.

Endemic status of schistosomiasis in People’s Republic of China in 2020 / 中国血吸虫病防治杂志

This report presented the endemic status of schistosomiasis in the People’s Republic of China at a national level in 2020, and analyzed the data collected from the national schistosomiasis prevention and control system and national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) endemic for schistosomiasis in China, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region continued to consolidate the achievements of schistosomiasis elimination, and Sichuan and Jiangsu provinces maintained the criteria of transmission interruption, while Yunnan, Hubei, Anhui, Jiangxi and Hunan provinces maintained the criteria of transmission control by the end of 2020. A total of 450 counties (cites, districts) were found to be endemic for schistosomiasis in China, with 28 376 endemic villages covering 71 370 400 people at risk of infections. Among the 450 endemic counties (cities, districts), 74.89% (337/450), 21.87% (98/450) and 3.33% (15/450) achieved the criteria of elimination, transmission interruption and transmission control of schistosomiasis, respectively. By the end of 2020, 29 517 cases with advanced schistosomiasis were documented in China. In 2020, 11 117 655 individuals received inquiry examinations and 1 798 580 were positive; 5 263 082 individuals received serological tests and 83 179 were sero-positive. A total of 273 712 individuals received stool examinations and 3 were positive, including one case of acute schistosomiasis. In 2020, snail survey was performed in 19 733 endemic villages in China and Oncomelania snails were found in 7 309 villages, accounting for 37.04% of all surveyed villages, with 15 villages identified with emerging snail habitats. Snail survey covered an area of 736 984.13 hm2 and 206 125.22 hm2 snail habitats were found, including 1 174.67 hm2 emerging snail habitats and 1.96 hm2 habitats with infected snails. In 2020, 544 424 bovines were raised in the schistosomiasis-endemic areas of China, and 147 887 received serological examinations, with 326 positives detected, while 130 673 bovines received stool examinations, with no positives identified. In 2020, there were 19 214 patients with schistosomiasis receiving praziquantel chemotherapy, and 964 103 person-time individuals and 266 280 herd-time bovines were given expanded chemotherapy. In 2020, molluscicide treatment was performed in 136 141.92 hm2 snail habitats, and the actual area of chemical treatment was 71 980.22 hm2, while environmental improvements were performed in snail habitats covering an area of 1 464.03 hm2. Data from the national schistosomiasis surveillance sites of China showed that the mean prevalence of Schistosoma japonicum infections were both zero in humans and bovines in 2020, and no S. japonicum infection was detected in snails. The results demonstrate that the overall endemic status of schistosomiasis remains at a low level in China and the goal of the National Thirteenth Five-Year Plan for Schistosomiasis Control was achieved as scheduled; however, the endemic situation of schistosomiasis rebounded in local areas. Precision schistosomiasis control and intensified monitoring of the endemic situation and transmission risk of schistosomiasis are required to be performed to facilitate the progress towards elimination of schistosomiasis steadily.

Endemic status of schistosomiasis in People’s Republic of China in 2019 / 中国血吸虫病防治杂志

This report presented the endemic status of schistosomiasis in the People’s Republic of China at a national level in 2019, and analyzed the data collected from the national schistosomiasis prevention and control system and 455 national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) endemic for schistosomiasis in China, Shanghai, Zhejiang, Fujian, Guangdong and Guangxi continued to consolidate the achievements of schistosomiasis elimination, Sichuan Province achieved transmission interruption, Jiangsu newly achieved the standard of transmission interruption and 5 provinces of Yunnan, Hubei, Anhui, Jiangxi and Hunan maintained transmission control by the end of 2019. There were 450 endemic counties (cities, districts) endemic for schistosomiasis, including 28 500 endemic villages covering 70 667 800 people at risk of infections. Among the 450 endemic counties (citis, districts), 66.89% (301/450), 28.44% (128/450) and 4.67% (21/450) kept the criteria of elimination, transmission interruption and transmission control of schistosomiasis, respectively. By the end of 2019, a total of 30 170 advanced schistosomiasis cases were documented in China. In 2019, a total of 12 090 712 individuals received inquiry examinations and 1 740 764 were positive; 5 158 369 individuals received serological tests and 89 753 were seropositive. A total of 327 475 individuals received stool examinations and 5 were positive, including one case of acute schistosomiasis. In 2019, snail survey was performed in 19 726 endemic villages in China and Oncomelania snails were found in 7 322 villages, accounting for 37.12% of all surveyed villages, with 6 villages with emerging snail habitats. Snail survey covered an area of 585 286.24 hm2 and 174 270.42 hm2 snail habitats were found, including emerging snail habitats of 64.20 hm2; however, no infected snails were identified. In 2019, a total of 605 965 bovines were raised in the schistosomiasis endemic areas of China, and 183 313 received serological examinations, with 1 176 positives detected, while 134 978 bovines received stool examinations, with 7 positives identified. In 2019, there were 28 557 patients with schistosomiasis receiving praziquantel chemotherapy, and expanded chemotherapy was given to 1 008 083 person-times; there were 7 bovines with schistosomiasis receiving praziquantel chemotherapy, and 296 053 herd-times expanded chemotherapy was given to bovines. In 2019, snail habitats at an area of 128 754.26 hm2 were given chemical treatment, and the actual area of chemical treatment was 69 605.55 hm2, while environmental improvements were performed in snail habitats covering an area of 2 847.00 hm2. Data from the 455 national schistosomiasis surveillance sites of China showed that the mean Schistosoma japonicum infection rates were both zero in humans and bovines in 2019, and no infected snails were found. The results demonstrate that the overall endemic situation of schistosomiasis remains at a lower infection level in China; however, there is still a risk of schistosomiasis transmission. To achieve the target set in the National Thirteenth Five-Year Plan for Schistosomiasis Control and consolidate the achievements of schistosomiasis control, precision control on schistosomiasis still needs to be reinforced in China.

Clinical analysis of myeloid neoplasms with t (3;21) (q26;q22) / 中华血液学杂志

Objective@#To analyze the characteristics of myeloid neoplasms with t (3;21) (q26;q22) .@*Methods@#Clinical data of patients with t (3; 21) (q26; q22) , diagnosed as hematologic malignancies in Peking University people's hospital from January 2011 to March 2018, were collected retrospectively. 19 patients in our hospital and forty-eight patients bearing t (3;21) (q26;q22) with detailed survival data reported in literature were summarized. Kaplan- Meier method was used for survival analysis.@*Results@#Among 19 patients, including 15 males and 4 females with a median age of 36 years (22-68 years) , 4 cases was diagnosed as de novo acute myeloid leukemia (AML) , 4 as myelodysplastic syndromes (MDS) , 3 as MDS-AML and 8 as chronic myelogenous leukemia (CML) in myeloid blast transformation. All of the 19 patients were detected to have t (3;21) (q26;q22) by G-banding technique and 13 carried additional cytogenetic aberrations. 9 of the 19 patients were detected for positive AML1-MDS1 fusion genes. In the 9 patients with detailed follow-up data, 6 patients received chemotherapy and only 2 achieved complete remission (CR) while 4 with no response. During the follow-up period, 8 patients died and the median overall survival (OS) was 6 months (4.5 to 22 months) . Survival analysis of the present 9 patients together with the literature data showed that the prognosis was poor and the median OS was 7 months. In particular, AML/t-AML had the worst prognosis. Hematopoietic stem cell transplantation (HSCT) could significantly improve survival, the median OS in HSCT group and non-HSCT group were 20.9 and 4.7 months respectively (P<0.001) .@*Conclusions@#t (3; 21) (q26; q22) is a rare recurrent chromosomal abnormality which is detected mainly in myeloid neoplasm and confer to poor clinical prognosis. HSCT should be recommended to improve the outcomes.

Clinical Significance of Screening Thalassemia with High- Throughput Sequencing / 中国实验血液学杂志

OBJECTIVE@#To evaluate the diagnostic value of high-throughput sequencing (NGS) in screening the thalassemia genes.@*METHODS@#The peripheral blood of 2 858 cases of pre-pregnancy and pregnancy from October 2014 to October 2016 randomly were collected in department of obstetrics, the third people's hospital in Dongguan city. Peripheral blood was used for the blood routine examination, hemoglobin electrophoresis, traditional thalassaemia gene screening and NGS.@*RESULTS@#The rate of missed diagnosis for α-thalassemia and β-thalassemia using NGS was 0.87% and 1.59%, respectively. Meanwhile, the missed rate of screening for α-thalassemia and β-thalassemia by traditional screening models was 26.77% and 2.38%, respectively. The area under the ROC curve of α-thalassemia and β-thalassemia screened by NGS was 0.994 and 0.991, respectively, however, the area under the ROC curve of screening for α-thalassemia and β-thalassemia by the traditional screening model was 0.866 and 0.988, respectively. The sensitivity, rate of missed diagnosis, Youden index and negative predictive value of screening for α-thalassemia and β-thalassemia using NGS all were superior to those using traditional screening.@*CONCLUSION@#Compared with the traditional screening model, the NGS screening for thalassemia genes shows a high accuracy, moreover can avoid missed diagnosis resulted from screening by conventional method, suggesting that the NCS possesses the accurate and diagnostic value for screening of thalassemia and can widely apply to clinical practise so as to provid the guarantee for early diagnosis of thalassemia.

Endemic status of schistosomiasis in People’s Republic of China in 2018 / 中国血吸虫病防治杂志

This report presented the endemic status of schistosomiasis in the People’s Republic of China at a national level in 2018, and analyzed the data collected from the national schistosomiasis prevention and control system and 453 national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) endemic for schistosomiasis in China, 5 provinces (municipality and autonomous region), including Shanghai, Zhejiang, Fujian, Guangdong and Guangxi, continued to consolidate the achievements of schistosomiasis elimination, Sichuan Province achieved transmission interruption and 6 provinces of Yunnan, Jiangsu, Hubei, Anhui, Jiangxi and Hunan achieved transmission control by the end of 2018. There were 450 endemic counties (cities, districts) covering 260 million people, specifically including 28 456 endemic villages covering 70.059 7 million people at risk of infection. Among the 450 endemic counties (cities, districts), 58.44% (263/450), 27.56% (124/450) and 14.00% (63/450) reached the criteria of elimination, transmission interruption and transmission control, respectively. By the end of 2018, a total of 29 214 advanced schistosomiasis cases were documented in China. In 2018, a total of 11.127 6 million individuals received inquiry examinations and 2.062 9 million were positive; 7.191 4 million individuals received serological tests and 138.5 thousand of them were positive, 532.2 thousand individuals received stool examinations and 8 were positive in China. In 2018, snail survey was performed in 19 821 endemic villages and Oncomehania snails were found in 7 321 villages, accounting for 36.94% of all surveyed villages, with 3 newly detected villages with snails in China. Snail survey covered an area of 590 241.01 hm2 and 168 319.41 hm2 snail habitats were found, including emerging snail habitats of 61.28 hm2; however, no infected snails were identified. In 2018, a total of 646 823 bovines were raised in the schistosomiasis endemic areas of China, and 225 258 received serological examinations, with 2 638 positives detected, while 164 803 bovines received stool examinations, with 2 positives identified. In 2018, there were 90 388 patients with schistosomiasis receiving praziquantel chemotherapy, and expanded chemotherapy was given to 1 490 594 person-times; there were two bovines with schistosomiasis receiving praziquantel chemotherapy, and expanded chemotherapy was given to 352 577 bovine-times; chemical treatment was conducted in an area of 141 660.87 hm2, including an actual mollusciciding area of 75 308.26 hm2, and environmental improvements were performed in an area of 4 738.37 hm2 in China. Data from the 453 national schistosomiasis surveillance sites of China showed that the mean Schistosoma japonicum infection rates were 0.001 5% and zero in humans and bovines in 2018, respectively, and no infected snails were found. The results demonstrate that the endemic situation of schistosomiasis appears a tendency towards a continuous decline in China; however, there is still a risk of schistosomiasis transmission, and challenges remain in achieving the target set in the Thirteenth Five-Year National Plan for Schistosomiasis Control in 2020 in some regions.

Endemic status of schistosomiasis in People’s Republic of China in 2018 / 中国血吸虫病防治杂志

This report presented the endemic status of schistosomiasis in the People’s Republic of China at a national level in 2018, and analyzed the data collected from the national schistosomiasis prevention and control system and 453 national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) endemic for schistosomiasis in China, 5 provinces (municipality and autonomous region), including Shanghai, Zhejiang, Fujian, Guangdong and Guangxi, continued to consolidate the achievements of schistosomiasis elimination, Sichuan Province achieved transmission interruption and 6 provinces of Yunnan, Jiangsu, Hubei, Anhui, Jiangxi and Hunan achieved transmission control by the end of 2018. There were 450 endemic counties (cities, districts) covering 260 million people, specifically including 28 456 endemic villages covering 70.059 7 million people at risk of infection. Among the 450 endemic counties (cities, districts), 58.44% (263/450), 27.56% (124/450) and 14.00% (63/450) reached the criteria of elimination, transmission interruption and transmission control, respectively. By the end of 2018, a total of 29 214 advanced schistosomiasis cases were documented in China. In 2018, a total of 11.127 6 million individuals received inquiry examinations and 2.062 9 million were positive; 7.191 4 million individuals received serological tests and 138.5 thousand of them were positive, 532.2 thousand individuals received stool examinations and 8 were positive in China. In 2018, snail survey was performed in 19 821 endemic villages and Oncomehania snails were found in 7 321 villages, accounting for 36.94% of all surveyed villages, with 3 newly detected villages with snails in China. Snail survey covered an area of 590 241.01 hm2 and 168 319.41 hm2 snail habitats were found, including emerging snail habitats of 61.28 hm2; however, no infected snails were identified. In 2018, a total of 646 823 bovines were raised in the schistosomiasis endemic areas of China, and 225 258 received serological examinations, with 2 638 positives detected, while 164 803 bovines received stool examinations, with 2 positives identified. In 2018, there were 90 388 patients with schistosomiasis receiving praziquantel chemotherapy, and expanded chemotherapy was given to 1 490 594 person-times; there were two bovines with schistosomiasis receiving praziquantel chemotherapy, and expanded chemotherapy was given to 352 577 bovine-times; chemical treatment was conducted in an area of 141 660.87 hm2, including an actual mollusciciding area of 75 308.26 hm2, and environmental improvements were performed in an area of 4 738.37 hm2 in China. Data from the 453 national schistosomiasis surveillance sites of China showed that the mean Schistosoma japonicum infection rates were 0.001 5% and zero in humans and bovines in 2018, respectively, and no infected snails were found. The results demonstrate that the endemic situation of schistosomiasis appears a tendency towards a continuous decline in China; however, there is still a risk of schistosomiasis transmission, and challenges remain in achieving the target set in the Thirteenth Five-Year National Plan for Schistosomiasis Control in 2020 in some regions.

Clinical analysis of myeloid neoplasms with t (3;21) (q26;q22) / 中华血液学杂志

Objective: To analyze the characteristics of myeloid neoplasms with t (3;21) (q26;q22) . Methods: Clinical data of patients with t (3; 21) (q26; q22) , diagnosed as hematologic malignancies in Peking University people's hospital from January 2011 to March 2018, were collected retrospectively. 19 patients in our hospital and forty-eight patients bearing t (3;21) (q26;q22) with detailed survival data reported in literature were summarized. Kaplan- Meier method was used for survival analysis. Results: Among 19 patients, including 15 males and 4 females with a median age of 36 years (22-68 years) , 4 cases was diagnosed as de novo acute myeloid leukemia (AML) , 4 as myelodysplastic syndromes (MDS) , 3 as MDS-AML and 8 as chronic myelogenous leukemia (CML) in myeloid blast transformation. All of the 19 patients were detected to have t (3;21) (q26;q22) by G-banding technique and 13 carried additional cytogenetic aberrations. 9 of the 19 patients were detected for positive AML1-MDS1 fusion genes. In the 9 patients with detailed follow-up data, 6 patients received chemotherapy and only 2 achieved complete remission (CR) while 4 with no response. During the follow-up period, 8 patients died and the median overall survival (OS) was 6 months (4.5 to 22 months) . Survival analysis of the present 9 patients together with the literature data showed that the prognosis was poor and the median OS was 7 months. In particular, AML/t-AML had the worst prognosis. Hematopoietic stem cell transplantation (HSCT) could significantly improve survival, the median OS in HSCT group and non-HSCT group were 20.9 and 4.7 months respectively (P<0.001) . Conclusions: t (3; 21) (q26; q22) is a rare recurrent chromosomal abnormality which is detected mainly in myeloid neoplasm and confer to poor clinical prognosis. HSCT should be recommended to improve the outcomes.

Endemic status of schistosomiasis in People's Republic of China in 2017 / 中国血吸虫病防治杂志

This report presents the endemic status of' schistosomiasis in the People ' s Republic, of China at national level in 2017, and analyzes the data collected from the national schistosomiasis prevention and control system and 457 national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) being endemic of schistosomiasis japonica in P. R. China, 5 provinces (municipality and autonomous region) , i.e., Shanghai, Zhejiang, Fujian, Guangdong and Guangxi, continued to consolidate the status of elimination of schistosomiasis. Sichuan Province achieved the transmission interruption and 6 provinces of Yunnan, Jiangsu, Hubei, Anhui, Jiangxi and Hunan kept the transmission control by the end of 2017. There were 450 endemic counties (cities, districts) covering 259 million people, specifically including 28 544 endemic: villages of 70 324.5 thousand people at risk. Among the 450 endemic counties (cities, districts) , 50.89% (229/450) , 30.89% ( 139/450) and 18.22% ( 82/450) reached the criteria of elimination , transmission interruption and transmission control, respectively. By the end of 2017 , a total of' 8 401 113 individuals received schistosomiasis examinations and 14 individuals were parasitologically diagnosed, decreased by 97.67% compared with 600 cases in 2016. It was estimated of 37 601 c:ases of schistosome infection, decreased by 30.95% compared with 54 454 cases in 2016. One acute schistosomiasis case was reported in 2017. There were 29 407 advanced schistosomiasis cases documented in 2017. Oncomelania hupensis snail surveys were performed in 19 784 endemic. villages and O. hupensis snails were found in 7 310 villages, accounting for 36.95% of' total villages, with 19 newly detected villages with snails. The snail survey covered an area of 622 454.49 hm2 and snails were found in an area of 172 501.56 hm2, including a newly detected area of 208.54 hm2. No schistosome-infected snails were found in 2017. A total of 737 016 bovines were raised in the schistosomiasis endemic, areas. Of them, 454 830 bovines received the examinations for schistosome infection, and 1 bovine was stool examination positive. There were 119 326 schistosomiasis cases receiving chemotherapy in 2017, with 1 973 968 individuals undergoing expanded chemotherapy; one bovine with schistosomiasis receiving chemotherapy, with 418 925 bovines undergoing expanded chemotherapy. A total of 144 605.31 hm2 area with snail was controlled by using molluscicides, with actual molluscicide-treated area of 73 755.37 hm2; and 5 002.92 hm2 area with snail was treated by environ-mental modification. Based on the data from the 457 national schistosomiasis surveillance sites , the mean ,Schistosoma japonicum infection rate was 0.001 6% and 0 in humans and bovines , respectively. No schistosome-infected snails were found by microscopic, examinations in all the surveillance sites , and 7 snail samples with schistosome nucleic, acid positive were detected by loop-mediated isothermal amplification (LAMP) among 6 surveillance sites. The results demonstrate a continuous decline trend on the endemic. Situation of schistosomiasis in P. R. China. However, the risk of epidemic, rebound still exists in some regions and it is still a challenge to achieve the target set by the Thirteenth Five-Year National Plan for Schistosomiasis Control in 2020.

Endemic status of schistosomiasis in People’s Republic of China in 2017 / 中国血吸虫病防治杂志

This report presents the endemic status of schistosomiasis in the People’s Republic of China at national level in 2017, and analyzes the data collected from the national schistosomiasis prevention and control system and 457 national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) being endemic of schistosomiasis japonica in P. R. China, 5 provinces (municipality and autonomous region), i.e., Shanghai, Zhejiang, Fujian, Guangdong and Guangxi, continued to consolidate the status of elimination of schistosomiasis. Sichuan Province achieved the transmission interruption and 6 provinces of Yunnan, Jiangsu, Hubei, Anhui, Jiangxi and Hunan kept the transmission control by the end of 2017. There were 450 endemic counties (cities, districts) covering 259 million people, specifically including 28 544 endemic villages of 70 324.5 thousand people at risk. Among the 450 endemic counties (cities, districts), 47.78% (215/450), 34.00% (153/450) and 18.22% (82/450) reached the criteria of elimination, transmission interruption and transmission control, respectively. By the end of 2017, a total of 8 401 113 individuals received schistosomiasis examinations and 14 individuals were parasitologically diagnosed, decreased by 97.67% compared with 600 cases in 2016. It was estimated of 37 601 cases of schistosome infection, decreased by 30.95% compared with 54 454 cases in 2016. One acute schistosomiasis case was reported in 2017. There were 29 407 advanced schistosomiasis cases documented in 2017. Oncomelania hupensis snail surveys were performed in 19 784 endemic villages and O. hupensis snails were found in 7 310 villages, accounting for 36.95% of total villages, with 19 newly detected villages with snails.The snail survey covered an area of 622454.49 hm2 and snails were found in an area of 172501.56 hm2, including a newly detected area of 208.54 hm2. No schistosome-infected snails were found in 2017. A total of 737 016 bovines were raised in the schistosomiasis endemic areas. Of them, 454 830 bovines received the examinations for schistosome infection, and 1 bovine was stool examination positive. There were 119 326 schistosomiasis cases receiving chemotherapy in 2017, with 1 973 968 individuals undergoing expanded chemotherapy; one bovine with schistosomiasis receiving chemotherapy, with 418 925 bovines undergoing expanded chemotherapy. A total of 144 605.31 hm2 area with snail was controlled by using molluscicides, with actual molluscicide-treated area of 73 755.37 hm2; and 5 002.92 hm2 area with snail was treated by environmental modification. Based on the data from the 457 national schistosomiasis surveillance sites, the mean Schistosoma japonicum infection rate was 0.001 6% and 0 in humans and bovines, respectively. No schistosome-infected snails were found by microscopic examinations in all the surveillance sites, and 7 snail samples with schistosome nucleic acid positive were detected by loopmediated isothermal amplification (LAMP) among 6 surveillance sites. The results demonstrate a continuous decline trend on the endemic situation of schistosomiasis in P. R. China. However, the risk of epidemic rebound still exists in some regions and it is still a challenge to achieve the target set by the Thirteenth Five-Year National Plan for Schistosomiasis Control in 2020.

Endemic status of schistosomiasis in People’s Republic of China in 2017 / 中国血吸虫病防治杂志

This report presents the endemic status of schistosomiasis in the People’s Republic of China at national level in 2017, and analyzes the data collected from the national schistosomiasis prevention and control system and 457 national schistosomiasis surveillance sites. Among the 12 provinces (municipality and autonomous region) being endemic of schistosomiasis japonica in P. R. China, 5 provinces (municipality and autonomous region), i.e., Shanghai, Zhejiang, Fujian, Guangdong and Guangxi, continued to consolidate the status of elimination of schistosomiasis. Sichuan Province achieved the transmission interruption and 6 provinces of Yunnan, Jiangsu, Hubei, Anhui, Jiangxi and Hunan kept the transmission control by the end of 2017. There were 450 endemic counties (cities, districts) covering 259 million people, specifically including 28 544 endemic villages of 70 324.5 thousand people at risk. Among the 450 endemic counties (cities, districts), 47.78% (215/450), 34.00% (153/450) and 18.22% (82/450) reached the criteria of elimination, transmission interruption and transmission control, respectively. By the end of 2017, a total of 8 401 113 individuals received schistosomiasis examinations and 14 individuals were parasitologically diagnosed, decreased by 97.67% compared with 600 cases in 2016. It was estimated of 37 601 cases of schistosome infection, decreased by 30.95% compared with 54 454 cases in 2016. One acute schistosomiasis case was reported in 2017. There were 29 407 advanced schistosomiasis cases documented in 2017. Oncomelania hupensis snail surveys were performed in 19 784 endemic villages and O. hupensis snails were found in 7 310 villages, accounting for 36.95% of total villages, with 19 newly detected villages with snails.The snail survey covered an area of 622454.49 hm2 and snails were found in an area of 172501.56 hm2, including a newly detected area of 208.54 hm2. No schistosome-infected snails were found in 2017. A total of 737 016 bovines were raised in the schistosomiasis endemic areas. Of them, 454 830 bovines received the examinations for schistosome infection, and 1 bovine was stool examination positive. There were 119 326 schistosomiasis cases receiving chemotherapy in 2017, with 1 973 968 individuals undergoing expanded chemotherapy; one bovine with schistosomiasis receiving chemotherapy, with 418 925 bovines undergoing expanded chemotherapy. A total of 144 605.31 hm2 area with snail was controlled by using molluscicides, with actual molluscicide-treated area of 73 755.37 hm2; and 5 002.92 hm2 area with snail was treated by environmental modification. Based on the data from the 457 national schistosomiasis surveillance sites, the mean Schistosoma japonicum infection rate was 0.001 6% and 0 in humans and bovines, respectively. No schistosome-infected snails were found by microscopic examinations in all the surveillance sites, and 7 snail samples with schistosome nucleic acid positive were detected by loopmediated isothermal amplification (LAMP) among 6 surveillance sites. The results demonstrate a continuous decline trend on the endemic situation of schistosomiasis in P. R. China. However, the risk of epidemic rebound still exists in some regions and it is still a challenge to achieve the target set by the Thirteenth Five-Year National Plan for Schistosomiasis Control in 2020.

Transformation from promyelocytic leukemia with t (15; 17) ( q22; q21) to acute monocytic leukemia with t (11; 17) (q23; q21) in a case / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on a case of therapy-related acute monocytic leukemia(t-AML) with t(11;17) (q23;q21)/MLL-AF17q after successful treatment for acute promyelocytic leukemia(APL) with t(15;17) (q22;q21)/PML-RARα.</p><p><b>METHODS</b>A MICM method (bone marrow morphology(M), immunophenotype(I), cytogenetics(C), and molecular biology(M)) was used for the diagnosis and classification of the disease at the time of onset and transformation.</p><p><b>RESULTS</b>The patient was initially identified with typical morphology and immunophenotype of APL. She has carried t(15;17)(q22;q21) and PML-RARα fusion gene but was without t(11;17)(q23;q21) or MLL gene abnormalities. After 13 months of successful treatment, she has transformed to AML with typical morphology and immunophenotype. t(11;17)(q23;q21) and MLL-AF17q fusion gene were detected in her bone marrow sample, while no PLZF-RARα fusion gene was detected by real-time quantitative reverse-transcription PCR(RQ-PCR) and fluorescence in situ hybridization(FISH).</p><p><b>CONCLUSION</b>t-AML is a serious complication after successful treatment of APL. t(11;17)(q23;q21) is not specific for the diagnosis of variant APL and can also be detected in t-AML. RQ-PCR and FISH are essential for the diagnosis of such patients.</p>