Genetic analysis of a case of B-acute lymphoblastic leukaemia with double Philadelphia chromosomes and double derivative chromosome 9s / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a rare case of acute B-lymphocytic leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative chromosome 9s [der(9)].@*METHODS@#A patient with double Ph and double der(9) B-ALL who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western Medicine Hospital in June 2020 was selected as the subject. Bone marrow morphology, flow cytometry, G-banding karyotyping, fluorescence in situ hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) were used to analyze bone marrow samples from the patient at various stages.@*RESULTS@#At initial diagnosis, the patient's bone marrow morphology and flow immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of the patient indicated double Ph, in addition with hyperdiploid chromosomes involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was positive. Genetic testing at the time of recurrence revealed presence of a heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication ratio of chromosome 22 was about 43%.@*CONCLUSION@#Since both der(9) homologs were seen in 40% of cells, the possible mechanism for the double der(9) in this patient may be similar to that of double Ph, which might have resulted from non-disjunction during mitosis in the Ph chromosome-positive cell clone.

Analysis of risk factors for bone contusion in the posterior of tibial plateau / 中华骨科杂志

Objective:To investigate the correlation between anterior cruciate ligament injury and the bone contusion in the posterior of tibial plateau and the risk factors of it.Methods:Data of patients with knee trauma who came to our hospital from Oct. 2017 to Nov. 2019 were retrospectively analyzed. There are 100 males and 55 females with an average age of 40.0±10.6 years (range, 18-60). Bone contusion in the posterior tibial plateauand anterior cruciate ligament, posterior cruciate ligament, medial collateral ligament, lateral collateral ligament and fibula injury were evaluated through imaging data, and injury mechanism, age, sex and the side of injury were collected from medical records. The effect of events on bone contusion in the posterior of tibial plateau was analyzed.Results:Bone contusion occurred in 92 of the 155 patients (56 males and 36 females), with an average age of 39.6±10.5 years (range, 19-55 years). There were 45 cases on right knee and 47 cases on the left side. ACL injury: ACL was completely ruptured in 42 cases, partially ruptured in 34 cases, and had no injury in 16 cases. There were 18 cases with PCL injury, and 74 cases without any injury. There were 57 cases of non-contact injury, and 35 cases of contact injury. There were 57 cases with fibular head injury, and 35 cases without. There were 44 cases with MCL injury, and 48 cases without. There were 13 cases with LCL injury, and 79 cases without. ACL injury degree ( χ2=18.345, P<0.05) and the head of fibula ( χ2=5.495, P<0.05) injury were significantly different between the two groups. There was no significant difference in male ratio ( χ2=1.315, P>0.05), knee side ( χ2=0.880, P>0.05), injury mechanism ( χ2=3.467, P>0.05), age ( t=0.664, P>0.05), LCL ( χ2=0.010, P>0.05)、MCL ( χ2=0.029, P>0.05) and PCL ( χ2=0.161, P>0.05). ACL injury was an independent risk factor for bone contusion in the posterior of tibial plateau ( P<0.05) and the injury of fibula head was an independent risk factor for the formation of bone contusion in the posterior of tibial plateau ( P<0.05) according to logistic analysis. The possibility of bone contusion on the posterior tibial plateau in ACL complete injury was significantly greater than that of ACL partial injury ( OR=2.695, P=0.021). Conclusion:The injury of ACL and fibula head are independent risk factors for the bone contusion in posterior of tibial plateau; ACL complete injury is more likely to be associated with posterior tibial plateau bone contusion than ACL partial injury.

ADR Reports:Analysis of 93 Cases in Our Hospital / 中国药房

OBJECTIVE: To study the regular pattern and characteristics of adverse drug reactions(ADR) in our hospital.METHDOS: 93 ADR cases collected from Jan.1,2006 to Dec.31,2006 in our hospital were analyzed statistically in respect of drug categories,Sex and age distribution,routes of administration,organs and systems involved and clinical manifestations etc.RESULTS: Of the 93 ADR cases,the patients aged above 60 showed the highest proportion(47.3%);31.2% were induced by anti-infective drugs;69.9% were induced through intravenous way;and damages of skin and its appendants were the most common manifestations(35.5%).CONCLUSION: Anti-infective drugs should be used rationally to avoid or reduce the occurrence of ADR.