Objective To explore the characteristics of defense mechanism in patients with obsessive-compulsive disorder(OCD).Methods Outpatients diagnosed as OCD were tested by Yale-Brown obsessive Compulsive Scale. Among them, 40 patients with score beyond or equal to 16 were selected as research group. 33 healthy individuals were selected as normal group. They were tested with Defense Style Questionnaire.Results ①The factor score of immature defense mechanisms in the OCD group is much higher than that in the normal group (P<0.01); the factor score of mature defense mechanisms in the OCD group is lower than that in the normal group (P<0.05); the factor score of middle defense mechanisms in the OCD group is much higher than that in the normal group (P<0.01). ②Passive aggression, acting out, splitting, regression, somatization in the immature defense mechanisms and relief, false altruism, isolation in the middle defense mechanisms are much more used by the OCD group than that in the normal group; but suppression and humor in the mature defense mechanisms are less used by the OCD group than that of the normal group(P<0.05 or P<0.01). ③Sublimation, suppression and consuming tendency are much more used in male patients than female ones in OCD group(P<0.05).Conclusion The patients with OCD tend to use the immature defense mechanisms and middle defense mechanisms, and there is some difference between male and female patients in using defense mechanisms.

The toroidal ion trap is an ideal candidate for miniaturized ion trap because it has much higher ion trapping capacity than a standard quadrupole ion trap of equal trapping dimensions. A novel toroidal ion trap mass analyzer with triangular electrode which contained a filament end cap, a detector endcap, an inner ring and an outer ring was reported. After designing and optimizing the electrodes by theoretical simulations, we found that the asymmetric triangle electrodes could reduce the affection from toroidal shape and improve the ion ejection rate and the mass resolution of the ion trap. The best design of the toroidal ion trap with a mass resolution of 1486 at m/z 609 was obtained.

Objective:To investigate the diagnosis, treatment, clinical characteristics and potential high-risk factors of cerebral venous sinus thrombosis (CVST) during the treatment of acute lymphoblastic leukemia (ALL) with pegaspargase.Methods:The medical history, diagnosis and treatment process, laboratory examination and imaging examination results of 3 ALL patients with CVST during pegaspargase treatment in the First Affiliated Hospital of Suzhou University in March and November 2021 and September 2022 were retrospectively analyzed, and the relevant literature was reviewed.Results:Three patients were all female, with the aged between 15 and 35 years old, including 2 cases of B-ALL and 1 case of T-ALL. All patients developed nervous system symptoms after pegaspargase chemotherapy, and were diagnosed as CVST by imaging examination. During the pegaspargase treatment, 2 patients took norethisterone, and 1 patient underwent induced labor and curettage. The levels of sexual hormones in the 3 patients had non-physiological changes. The main CVST lesions were located in the superior sagittal sinus, transverse sinus and sigmoid sinus. One patient had cerebral hemorrhage at the same time. When thrombus occurred, the fibrinogen (Fib), antithrombin Ⅲ (AT Ⅲ) activity, protein C activity and protein S activity of the patients were significantly lower than those before, D-dimer was significantly higher, and lupus anticoagulant and anticardiolipin antibody were negative. The thrombosis treatment was mainly anticoagulation, and 1 patient underwent thrombolysis. Two patients had no sequelae of nervous system, and 1 patient had the sequelae of muscle weakness.Conclusions:Patients with ALL should be alert to the occurrence of CVST when they have nervous system symptoms during pegaspargase chemotherapy. The diagnosis of CVST mainly depends on cranial imaging. Anticoagulation is the main thrombosis treatment, thrombolysis and interventional thrombectomy are feasible for some patients, with few neurological sequelae. The use of second-generation progesterone drugs and the non-physiological fluctuation of sex hormones may be the potential risk factors of CVST.

Objective:To explore the application of venetoclax in transplantation of patients with refractory acute myeloid leukemia (AML).Methods:The diagnosis and treatment process of a patient with refractory AML who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) under venetoclax and hypomethylating agents bridging myeloablative preconditioning regimen after induction therapy failure in the First Affiliated Hospital of Soochow University in March 2020 were retrospectively analyzed.Results:The patient was a 28-year-old female who was diagnosed with refractory AML. The patient was initially given induction chemotherapy with IA (idarubicin+cytarabine) (3+7) regimen, but the disease did not relieve, then the induction chemotherapy with CLAG (cladribine+cytarabine+granulocyte colony stimulating factor) regimen was given, but the disease still did not relieve. After chemotherapy with venetoclax and hypomethylating agents bridging myeloablative preconditioning regimen, salvage haploid allo-HSCT was performed. Re-examination of bone marrow showed remission, and implantation was successful. The patient was followed up for 100 days and had sustained remission, and no transplantation complications occurred.Conclusion:For refractory AML patients who have failed primary induction therapy, the use of venetoclax and hypomethylating agents bridging myeloablative preconditioning regimen can be used as a preferred solution for salvage allo-HSCT.

Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.
Mice ; Animals ; Humans ; Male ; Kartagener Syndrome/metabolism* ; Cilia/metabolism* ; Semen ; Genetic Testing ; RNA, Messenger ; Mutation

Lymphangioleiomyomatosis (LAM) is a rare, multisystemic, low-grade neoplasm character-ized by diffuse cystic lesions in the lung.In recent years, emerging imaging examination such as ⁶⁸Ga-NEB PET-CT scan provides efficient and precise non-invasive diagnostic methods to detect lymphatic circulation abnormalities in LAM patients. The long-term efficacy and safety of sirolimus for LAM has accumulated further evidence, and genetic profiling studies have unveiled more information of genetic mechanisms. Prognosis of LAM has been much improved. We briefly reviewed the research advances of LAM in China and other countires.