[Use of the ETV6/RUNX1 probe to verify the performance of the fluorescence in situ hybridization probe before clinical detection].

Objective: To explore the standardized performance of a FISH probe before clinical detection. Methods: The probe sensitivity and specificity of ETV6/RUNX1 were analyzed via interphase and metaphase FISH in 20 discarded healthy bone marrow samples. The threshold system of the probe was established using an inverse beta distribution, and an interpretation standard was established. Finally, a parallel-controlled polymerase chain reaction detection study was conducted on 286 bone marrow samples from patients at our hospital. The clinical sensitivity, specificity, and diagnostic coincidence rate of ETV6/RUNX1 FISH detection were analyzed, and the diagnostic consistency of the two methods was analyzed by the kappa test. Results: The probe sensitivity and specificity of the ETV6/RUNX1 probe were 98.47% and 100%, respectively. When 50, 100, and 200 cells were counted, the typical positive signal pattern cutoffs were 5.81%, 2.95%, and 1.49%, respectively, and the atypical positive signal pattern cutoffs were 13.98%, 9.75%, and 6.26%, respectively. The clinical sensitivity of FISH was 96.1%, clinical specificity was 99.6%, diagnostic coincidence rate was 99.00%, diagnostic consistency test kappa value was 0.964, and P value was <0.001. Conclusion: For FISH probes without a national medical device registration certificate, standardized performance verification and methodology performance verification can be performed using laboratory developed test verification standards to ensure a reliable and accurate reference basis for clinical diagnosis and treatment.

PD-1 regulates ILC3-driven intestinal immunity and homeostasis.

Interleukin-(IL) 22 production by intestinal group 3 innate lymphoid cells (ILC3) is critical to maintain gut homeostasis. However, IL-22 needs to be tightly controlled; reduced IL-22 expression is associated with intestinal epithelial barrier defect while its overexpression promotes tumor development. Here, using a single-cell ribonucleic acid sequencing approach, we identified a core set of genes associated with increased IL-22 production by ILC3. Among these genes, programmed cell death 1 (PD-1), extensively studied in the context of cancer and chronic infection, was constitutively expressed on a subset of ILC3. These cells, found in the crypt of the small intestine and colon, displayed superior capacity to produce IL-22. PD-1 expression on ILC3 was dependent on the microbiota and was induced during inflammation in response to IL-23 but, conversely, was reduced in the presence of Notch ligand. PD-1+ ILC3 exhibited distinct metabolic activity with increased glycolytic, lipid, and polyamine synthesis associated with augmented proliferation compared with their PD-1- counterparts. Further, PD-1+ ILC3 showed increased expression of mitochondrial antioxidant proteins which enable the cells to maintain their levels of reactive oxygen species. Loss of PD-1 signaling in ILC3 led to reduced IL-22 production in a cell-intrinsic manner. During inflammation, PD-1 expression was increased on natural cytotoxicity receptor (NCR)- ILC3 while deficiency in PD-1 expression resulted in increased susceptibility to experimental colitis and failure to maintain gut barrier integrity. Collectively, our findings uncover a new function of the PD-1 and highlight the role of PD-1 signaling in the maintenance of gut homeostasis mediated by ILC3 in mice.

[A multicenter study on respiratory pathogen detection with Mycoplasma pneumoniae pneumonia in children].

Objective: To analyze the status of respiratory pathogen detection and the clinical features in children with Mycoplasma pneumoniae pneumonia (MPP). Methods: A prospective, multicenter study was conducted to collect clinical data, including medical history, laboratory examinations and multiplex PCR tests of children diagnosed with MPP from 4 hospitals in China between November 15th and December 20th, 2023. The multiplex PCR results and clinical characteristics of MPP children in different regions were analyzed. The children were divided into severe and mild groups according to the severity of the disease. Patients in the severe group were further divided into Mycoplasma pneumoniae (MP) alone and Multi-pathogen co-detection groups based on whether other pathogens were detected besides MP, to analyze the influence of respiratory pathogen co-detection rate on the severity of the disease. Mann-Whitney rank sum test and Chi-square test were used to compare data between independent groups. Results: A total of 298 children, 136 males and 162 females, were enrolled in this study, including 204 children in the severe group with an onset age of 7.0 (6.0, 8.0) years, and 94 children in the mild group with an onset age of 6.5 (4.0, 7.8) years. The level of C-reactive protein, D-dimer, lactic dehydrogenase (LDH) were significantly higher (10.0 (5.0, 18.0) vs. 5.0 (5.0, 7.5) mg/L, 0.6 (0.4, 1.1) vs. 0.5 (0.3, 0.6) mg/L, 337 (286, 431) vs. 314 (271, 393) U/L, Z=2.02, 2.50, 3.05, all P<0.05), and the length of hospitalization was significantly longer in the severe group compared with those in mild group (6.0 (6.0, 7.0) vs. 5.0 (4.0, 6.0) d, Z=4.37, P<0.05). The time from onset to admission in severe MPP children was significantly shorter than that in mild MPP children (6.0 (5.0, 9.5) vs. 9.0 (7.0, 13.0) d, Z=2.23, P=0.026). All patients completed the multiplex PCR test, with 142 cases (47.7%) MPP children detected with 21 pathogens including adenovirus 25 cases (8.4%), human coronavirus 23 cases (7.7%), rhinovirus 21 cases (7.0%), Streptococcus pneumoniae 21 cases (7.0%), influenza A virus 18 cases (6.0%). The pathogens with the highest detection rates in Tianjin, Shanghai, Wenzhou and Chengdu were Staphylococcus aureus at 10.7% (8/75), adenovirus at 13.0% (10/77), adenovirus at 15.3% (9/59), and both rhinovirus and Haemophilus influenzae at 11.5% (10/87) each. The multi-pathogen co-detection rate in severe MPP children was significantly higher than that in mild MPP group (52.9% (108/204) vs. 36.2% (34/94), χ²=10.62,P=0.005). Among severe MPP children, there are 89 cases in the multi-pathogen co-detection group and 73 cases in the simple MPP group. The levels of LDH, D-dimer and neutrophil counts in the multi-pathogen co-detection group were significantly higher than those in the simple MPP group (348 (284, 422) vs. 307 (270, 358) U/L, 0.8 (0.5, 1.5) vs. 0.6 (0.4, 1.0) mg/L, 4.99 (3.66, 6.89)×109 vs. 4.06 (2.91, 5.65)×109/L, Z=5.17, 4.99, 6.11, all P<0.05). Conclusions: The co-detection rate of respiratory pathogens, LDH and D-dimer in children with severe MPP were higher than those with mild MPP. Among severe MPP children the stress response of children in co-detection group was more serious than that of children with simple MPP.

[Clinical observation on the treatment of ossification of the posterior longitudinal ligament of the cervical spine using 3D printed self-stable zero-profile artificial vertebral body].

Objective: To observe the clinical efficacy of a 3D printed self-stable zero-profile artificial vertebral body for anterior cervical corpectomy decompression and fusion in the treatment of ossification of the posterior longitudinal ligament (OPLL) of the cervical spine. Methods: In this prospective randomized controlled trial, patients diagnosed with OPLL in Luohe Central Hospital from January to July 2022 were divided into a zero-profile group (3D printed self-stable zero-profile artificial vertebral body was used for internal fixation and fusion after anterior cervical subtotal decompression,) and titanium-mesh group (titanium-mesh and titanium plate were used for internal fixation and fusion after anterior cervical subtotal decompression) according to envelope random method. Operation time, intraoperative blood loss, Japanese Orthopaedic Association (JOA) score and improvement rate, incidence of postoperative prosthesis subsidence, and bone graft fusion were recorded and compared between the two groups. Results: Finally, 21 patients in the zero notch group and 20 patients in the titanium mesh group were included in the study and were followed-up. In the zero-profile group, there were 16 males and 5 females, aged (48.0±12.7) years. In the titanium-mesh group, there were 14 males and 6 females, aged (49.8±10.2) years. All the 41 patients successfully completed the operation. In the zero-profile group, the surgical time was (50.04±8.45) minutes, the blood loss was (95.38±26.07) ml and the hospitalization cost was (42.32±6.12) thousand yuan. In the titanium-mesh group, the surgical time was (59.20±11.95) minutes, the blood loss was (93.10±27.86) ml and the hospitalization cost was (42.10±6.71) thousand yuan. The surgical time in the zero-profile group was shorter than that in the titanium-mesh group (P=0.007), and there was no statistically significant difference in blood loss and hospitalization costs between the two groups (both P>0.05). The 41 patients were followed-up for (14.29±1.45) months. Four cases (20.0%) in the titanium mesh group experienced swallowing difficulties and 0 cases in the zero incision group, the difference between the two groups was statistically significant (P=0.048). No intraoperative hematoma, spinal cord nerve recompression, airway crisis, incision infection complications, and no steel plate or screw breakage or displacement occurred after surgery. At the last follow-up, all cases had bone fusion. At the follow-up of 12 months after surgery, the JOA score of the zero incision group increased from preoperative (10.33±1.71) points to (15.47±0.81) points, with an improvement rate of 76.1%±15.7%; the JOA score of the titanium mesh group increased from (10.30±1.75) points to (15.30±0.92) points, with an improvement rate of 73.2%±16.7%; there was no statistically significant difference in improvement rate between the two groups (P=0.580). At the follow-up of 12 months after surgery, 1 case (4.8%) in the zero incision group and 8 cases (40.0%) in the titanium mesh group experienced implant sinking, and the difference between the two groups was statistically significant (P=0.009). Conclusion: Compared with titanium-mesh, 3D printed self-stable zero-profile artificial vertebral body for the treatment of OPLL of the cervical spine can achieve good surgical efficacy, shorter surgical time, lower incidence of postoperative chronic swallowing discomfort, and can provide a better bone material bonding interface and be less prone to prosthesis settlement.

Unraveling the diversity and functions of tissue-resident plasma cells.

Antibody-secreting plasma cells (PCs) are generated in secondary lymphoid organs but are reported to reside in an emerging range of anatomical sites. Analysis of the transcriptome of different tissue-resident (Tr)PC populations revealed that they each have their own transcriptional signature indicative of functional adaptation to the host tissue environment. In contrast to expectation, all TrPCs were extremely long-lived, regardless of their organ of residence, with longevity influenced by intrinsic factors like the immunoglobulin isotype. Analysis at single-cell resolution revealed that the bone marrow is unique in housing a compendium of PCs generated all over the body that retain aspects of the transcriptional program indicative of their tissue of origin. This study reveals that extreme longevity is an intrinsic property of TrPCs whose transcriptome is imprinted by signals received both at the site of induction and within the tissue of residence.

[Secondary non-tuberculous mycobacterium infection in patients with bronchiectasis caused by Marfan syndrome].

In this article, we reported a 28-year-old female patient who presented with intermittent hemoptysis, cough, and sputum production. Laboratory tests showed no abnormalities in the blood counts or inflammatory markers, and the sputum cultures were negative. A chest computed tomography scan showed bronchiectasis associated with infection in the middle and lower lobes of the right lung and right pleural thickening. We performed bronchoalveolar lavage by bronchoscopy in the dorsal segment of the right lower lobe and found Mycobacterium avium intracellulare complex (MAC) by Next Generation Sequencing (NGS) of bronchoalveolar lavage fluid (BALF). The patient's symptoms improved significantly after anti-mycobacterium treatment and the extent of infection was reduced on imaging. To further identify the cause of bronchiectasis, the patient is tall and thin, with slender limbs. Cardiac color ultrasound showed the widening of aortic sinus. Her genetic testing of blood samples revealed the gene mutation in the FBN1 gene (c.4349G>A). Based on these results, she was diagnosed with Marfan syndrome.

[Characteristics of SPECT/CT-derived pulmonary perfusion imaging in chronic pulmonary vascular stenosis with different etiologies].

Objective: To explore the characteristics of pulmonary blood flow perfusion imaging of single photo emission computer tomography/computer tomography (SPECT/CT) in chronic pulmonary vascular Stenosis (CPVS) caused by different etiological factors. Methods: This is a retropective study. Present study screened 50 consecutive cases diagnosed with chronic pulmonary vascular stenosis from January 2019 to January 2020 in the department of cardiology of Gansu Provincial Hospital and underwent SPECT/CT pulmonary blood flow perfusion examination. Thirteen patients were excluded because of pulmonary vascular lesions with a disease course of less than 3 months and poor image quality. According to the etiology, patients were divided into fibrosing mediastinitis (FM) group, Takyasu's arteritis (PTA) group, and chronic thromboembolic pulmonary hypertension/chronic thromboembolic pulmonary disease (CTEPH/CTED) group. The severity of pulmonary blood flow perfusion was evaluated in accordance with the Begic scoring principle in the three groups. The overall Begic score, lung lobe scores among three groups were compared. CT signs of lung SPECT/CT, such as enlargement of hilar lymph node, atelectasis, bronchial stenosis, were also analyzed in three groups. Results: A total of 37 patients with chronic pulmonary vascular stenosis were finally enrolled (18 in the FM group, 5 in the PTA group, and 14 in the CTEPH/CTED group). The total Begic score of pulmonary perfusions was similar among the three groups (F=0.657,P>0.05). There was a statistically significant difference in the left upper lobe Begic score among the three groups (H=4.081, P<0.05). The left upper lobe Begic score was higher in the FM group than in the PTA group (3.44±2.50 vs. 1.60±0.55, P<0.05). As compared to other two groups, patients in FM group were featured with CT signs of higher percent of hilar enlargement (FM group vs. PTA group: 16/18 vs. 1/5, P=0.008; FM group vs. CTEPH/CTED group: 16/18 vs. 3/14, P=0.000 2), enlargement of the pulmonary hilum lymph nodes (FM group vs. PTA group: 14/18 vs. 1/5, P=0.033; FM group vs. CTEPH/CTED group: 14/18 vs. 2/14, P=0.001), and calcification of mediastinal soft tissue (FM group vs. PTA group: 11/18 to 0/5, P=0.037; FM group vs. CTEPH/CTED group: 11/18 vs. 1/14, P=0.003). The proportion of CT signs of bronchial stenosis (9/18 vs. 0/14, P=0.002) and atelectasis (9/18 vs. 1/14, P=0.002) was also higher in the FM group than in the CTEPH/CTED group. In case of abnormal pulmonary blood flow perfusion, the diagnostic accuracy of CT signs hilar enlargement, hilar lymph node enlargement, mediastinal soft tissue calcification, bronchial stenosis, and atelectasis for the diagnosis of FM were 81.1%, 83.8%, 78.4%, 75.7%, and 73.0%, respectively. Conclusion: There is no significant difference in the Begic score of SPECT/CT pulmonary blood flow perfusion imagines among the three groups of patients. Impaired pulmonary blood flow perfusion combined with typical CT signs is useful for identifying patients with FM.

[Effect of compound chamomile and lidocaine hydrochloride gel on oropharyngeal complications after the use of laryngeal mask airway with positive pressure ventilation].

Objective: To evaluate the effect of compound chamomile and lidocaine hydrochloride gel on oropharyngeal complications after the use of laryngeal mask airway with positive pressure ventilation. Methods: A total of 64 patients undergoing elective surgery under general anesthesia using laryngeal mask airway (LMA) with positive pressure ventilation in Beijing Tongren Hospital Affiliated to Capital Medical University From January to March 2023 were prospectively selected and divided into two groups by the random number table method: normal saline group (n=32), with 18 males and 14 females, aged 28-64 (48.4±10.6) years, and the compound chamomile and lidocaine hydrochloride gel group (chamomile gel group, n=32), with 18 males and 14 females, aged 24-64 (46.3±10.8) years. Patients in both groups received total intravenous anesthesia. Before LMA placement, the front, shoulder and back of LMA were lubricated with normal saline and compound chamomile and lidocaine hydrochloride gel in the normal saline group and the chamomile gel group, respectively. The main outcome measure was the incidence of postoperative oropharyngeal mucosal inflammation at different time points after the removal of the laryngeal mask. Secondary outcome measures included oropharyngeal mucositis score, sore throat score, hoarse voice score, cough score and throat dryness score at different time points after LMA removal, the number of LMA insertion times, time of successful insertion and leakage pressure, as well as stress reactions such as cough and agitation before and after LMA removal, and adverse reactions such as tongue numbness and protective pharyngeal reflex limitation during recovery. Results: The incidence of oropharyngeal mucositis in the chamomile gel group was 25.0% (8/32), 31.3% (10/32), 28.1% (9/32) and 3.1% (1/32) at 0.5, 3, 6 and 24 h after LMA removal, respectively, which were lower than those of normal saline group [53.1% (17/32), 59.4% (19/32), 59.4% (19/32) and 21.9% (7/32)] (all P<0.05). The oropharyngeal mucositis scores of patients in the chamomile gel group were 0 (0, 0.8), 0 (0, 1.0), 0 (0, 1.0) and 0 (0, 0) respectively at 0.5, 3, 6 and 24 h after LMA removal, which were lower than those in the saline group [1.0 (1.0, 1.8), 1.0 (0, 2.0), 1.0 (0, 2.0) and 0 (0, 0)] (all P<0.05). The cough score of the patients in the chamomile gel group was 0 (0, 0) and 0 (0, 0) at 3, 6 h after LMA removal, which were lower than those of the normal saline group [(0, 0) and 0 (0, 0)] (both P<0.05). The throat dryness score of the patients in the chamomile gel group was 0 (0, 1.0) at 3 h after LMA removal, which was lower than that of the normal saline group [1.0 (0.3, 1.0)] (P=0.019). The time of successful LMA insertion in the chamomile gel group was 25.0 (20.3, 29.8) s, which was shorter than that in the saline group [29.0 (25.0, 32.0) s] (P=0.016). There were no significant differences in the number of LMA insertion, leakage pressure, postoperative sore throat and hoarse voice scores between the two groups (all P>0.05). Likewise, there were no stress reactions such as cough and agitation before and after LMA removal, and no adverse reactions such as tongue numbness and limited protective pharyngeal reflex during recovery. Conclusion: Compound chamomile and hydrochloride lidocaine gel can reduce the incidence of postoperative oropharyngeal mucositis, relieve the symptoms of postoperative oropharyngeal mucositis, pharyngeal dryness and cough, and improve the postoperative comfort of patients using the laryngeal mask airway with positive pressure ventilation.

[The effect of modified nasopharynx airway with spontaneous breathing under general anesthesia on the postoperative recovery quality of patients undergoing hysteroscopic daytime surgery].

Objective: To explore the impact of a new type of modified nasopharynx airway preserving spontaneous breathing under general anesthesia on the postoperative recovery quality of patients undergoing hysteroscopic daytime surgery. Methods: A total of 80 patients undergoing hysteroscopic daytime surgery at Beijing Tongren Hospital from August to December 2022 was prospectively selected. The patients were randomly divided into two groups using a random number table method: patients in the laryngeal mask mechanical ventilation general anesthesia group (laryngeal mask group, n=40) aged (46.8±10.1) years (20-65 years), while patients in the modified nasopharyngeal airway preserving spontaneous breathing general anesthesia group (nasopharyngeal airway group, n=40) aged (45.5±12.1) years (26-65 years). The main outcome measures were the clinical recovery score (CRS) and modified alertness and sedation score (MOAA/S) of patients at different postoperative time points. Secondary observation indicators included anesthesia induction time, awakening time, and extubation time, changes of hemodynamic indicators between preoperative and intraoperative period, and incidence of adverse reactions during and after surgery. Results: The CRS scores [M (Q1, Q3)] of patients in the nasopharyngeal airway group were 8 (8, 9), 8 (8, 9), 8 (8, 9), 9 (9, 9) and 10 (10, 11) at postoperative awakening, immediately after extubation, 5 minutes after extubation, 15 minutes after extubation, and 30 minutes after extubation, respectively, which were higher than those in the laryngeal mask group [7 (6, 8), 7 (7, 8), 7 (7, 8), 8 (8, 8) and 9 (8, 9)] (all P<0.001). The MOAA/S scores of the nasopharyngeal airway group were 5 (5, 5), 5 (5, 5), 5 (5, 5) and 5 (5, 5) at postoperative awakening, immediately after extubation, 5 minutes after extubation, and 15 minutes after extubation, respectively, which were higher than those in the laryngeal mask group [4 (3, 5), 4 (4, 5), 5 (5, 5) and 5 (5, 5)] (all P<0.05). The anesthesia induction time, awakening time, and extubation time of the nasopharyngeal airway group were (47.8±4.3) s, (4.1±1.7) min and (4.5±1.7) min, respectively, which were shorter than those of laryngeal mask group [(138.8±4.2) s, (7.2±2.9) min and (8.1±2.7) min] (all P<0.05). The mean arterial pressure (MAP) of patients in the nasopharynx airway group during extubation was (84.9±10.2) mmHg (1 mmHg=0.133 kPa), which was lower than that of the laryngeal mask group [(93.2±7.5) mmHg] (P<0.05). The partial pressure of end-tidal carbon dioxide (PetCO2) during cervical dilation was (22.0±5.9) mmHg, which was lower than those of the laryngeal mask group [(37.2±2.2) mmHg] (P<0.05). The PetCO2 during intrauterine operation and extubation were (45.5±6.7) and (41.6±4.5) mmHg, which were higher than those of the laryngeal mask group [(39.2±4.1) mmHg and (38.6±3.6) mmHg] (both P<0.05). The incidence of respiratory depression and body movement during surgery in the nasopharyngeal airway group were 27.5% (11/40) and 17.5% (7/40), respectively, which were higher than those in the laryngeal mask group [0 and 0] (both P<0.05). The incidence of postoperative drowsiness was 2.5% (1/40), which was lower than that of the laryngeal mask group [17.5% (7/40)] (P<0.05). There was no severe physical activity or intraoperative awareness in the two groups. Conclusion: The new modified general anesthesia method of preserving spontaneous breathing through the nasopharynx airway can improve the postoperative recovery quality of patients, and reduce the occurrence of adverse reactions, which facilitates rapid recovery after hysteroscopic daytime surgery.

[Molecular features of 109 patients with chronic myelomonocytic leukemia in a single center].

Objective: To explore the molecular features of chronic myelomonocytic leukemia (CMML) . Methods: According to 2022 World Health Organization (WHO 2022) classification, 113 CMML patients and 840 myelodysplastic syndrome (MDS) patients from March 2016 to October 2021 were reclassified, and the clinical and molecular features of CMML patients were analyzed. Results: Among 113 CMML patients, 23 (20.4%) were re-diagnosed as acute myeloid leukemia (AML), including 18 AML with NPM1 mutation, 3 AML with KMT2A rearrangement, and 2 AML with MECOM rearrangement. The remaining 90 patients met the WHO 2022 CMML criteria. In addition, 19 of 840 (2.3%) MDS patients met the WHO 2022 CMML criteria. At least one gene mutation was detected in 99% of CMML patients, and the median number of mutations was 4. The genes with mutation frequency ≥ 10% were: ASXL1 (48%), NRAS (34%), RUNX1 (33%), TET2 (28%), U2AF1 (23%), SRSF2 (21.1%), SETBP1 (20%), KRAS (17%), CBL (15.6%) and DNMT3A (11%). Paired analysis showed that SRSF2 was frequently co-mutated with ASXL1 (OR=4.129, 95% CI 1.481-11.510, Q=0.007) and TET2 (OR=5.276, 95% CI 1.979-14.065, Q=0.001). SRSF2 and TET2 frequently occurred in elderly (≥60 years) patients with myeloproliferative CMML (MP-CMML). U2AF1 mutations were often mutually exclusive with TET2 (OR=0.174, 95% CI 0.038-0.791, Q=0.024), and were common in younger (<60 years) patients with myelodysplastic CMML (MD-CMML). Compared with patients with absolute monocyte count (AMoC) ≥1×10(9)/L and <1×10(9)/L, the former had a higher median age of onset (60 years old vs 47 years old, P<0.001), white blood cell count (15.9×10(9)/L vs 4.4×10(9)/L, P<0.001), proportion of monocytes (21.5% vs 15%, P=0.001), and hemoglobin level (86 g/L vs 74 g/L, P=0.014). TET2 mutations (P=0.021) and SRSF2 mutations (P=0.011) were more common in patients with AMoC≥1×10(9)/L, whereas U2AF1 mutations (P<0.001) were more common in patients with AMoC<1×10(9)/L. There was no significant difference in the frequency of other gene mutations between the two groups. Conclusion: According to WHO 2022 classification, nearly 20% of CMML patients had AMoC<1×10(9)/L at the time of diagnosis, and MD-CMML and MP-CMML had different molecular features.

[Clinical characteristics of 11 patients with chronic lymphocytic leukemia with t (14;19) (q32;q13)].

Objective: To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . Methods: The case data of 11 patients with CLL with t (14;19) (q32;q13) in the chromosome karyotype analysis results of the Blood Diseases Hospital, Chinese Academy of Medical Sciences from January 1, 2018, to July 30, 2022, were retrospectively analyzed. Results: In all 11 patients, t (14;19) (q32;q13) involved IGH::BCL3 gene rearrangement, and most of them were accompanied by +12 or complex karyotype. An immunophenotypic score of 4-5 was found in 7 patients and 3 in 4 cases. We demonstrated that CLLs with t (14;19) (q32;q13) had a mutational pattern with recurrent mutations in NOTCH1 (3/7), FBXW7 (3/7), and KMT2D (2/7). The very-high-risk, high-risk, intermediate-risk, and low-risk groups consisted of 1, 1, 6, and 3 cases, respectively. Two patients died, 8 survived, and 2 were lost in follow-up. Four patients had disease progression or relapse during treatment. The median time to the first therapy was 1 month. Conclusion: t (14;19) (q32;q13), involving IGH::BCL3 gene rearrangement, is a rare recurrent cytogenetic abnormality in CLL, which is associated with a poor prognosis.

[Analysis of clinicopathological and molecular abnormalities of angioimmunoblastic T-cell lymphoma].

OBJECTIVE: To analyze the clinicopathological features, molecular changes and prognostic factors in angioimmunoblastic T-cell lymphoma (AITL). METHODS: Sixty-one cases AITL diagnosed by Department of Pathology of Peking University Cancer Hospital were collected with their clinical data. Morphologically, they were classified as typeⅠ[lymphoid tissue reactive hyperplasia (LRH) like]; typeⅡ[marginal zone lymphoma(MZL)like] and type Ⅲ [peripheral T-cell lymphoma, not specified (PTCL-NOS) like]. Immunohistochemical staining was used to evaluate the presence of follicular helper T-cell (TFH) phenotype, proliferation of extra germinal center (GC) follicular dendritic cells (FDCs), presence of Hodgkin and Reed-Sternberg (HRS)-like cells and large B transformation. The density of Epstein-Barr virus (EBV) + cells was counted with slides stained by Epstein-Barr virus encoded RNA (EBER) in situ hybridization on high power field (HPF). T-cell receptor / immunoglobulin gene (TCR/IG) clonality and targeted exome sequencing (TES) test were performed when necessary. SPSS 22.0 software was used for statistical analysis. RESULTS: Morphological subtype (%): 11.4% (7/61) cases were classified as type Ⅰ; 50.8% (31/61) as type Ⅱ; 37.8% (23/61) as type Ⅲ. 83.6% (51/61) cases showed classical TFH immunophenotype. With variable extra-GC FDC meshwork proliferation (median 20.0%); 23.0% (14/61) had HRS-like cells; 11.5% (7/61) with large B transformation. 42.6% (26/61) of cases with high counts of EBV. 57.9% (11/19) TCR+/IG-, 26.3% (5/19) TCR+/IG+, 10.5% (2/19) were TCR－/IG－, and 5.3% (1/19) TCR－/IG+. Mutation frequencies by TES were 66.7% (20/30) for RHOA, 23.3% (7/30) for IDH2 mutation, 80.0% (24/30) for TET2 mutation, and 33.3% (10/30) DNMT3A mutation. Integrated analysis divided into four groups: (1) IDH2 and RHOA co-mutation group (7 cases): 6 cases were type Ⅱ, 1 case was type Ⅲ; all with typical TFH phenotype; HRS-like cells and large B transformation were not found; (2) RHOA single mutation group (13 cases): 1 case was type Ⅰ, 6 cases were type Ⅱ, 6 cases were type Ⅲ; 5 cases without typical TFH phenotype; 6 cases had HRS-like cells, and 2 cases with large B transformation. Atypically, 1 case showed TCR－/IG－, 1 case with TCR－/IG+, and 1 case with TCR+/IG+; (3) TET2 and/or DNMT3A mutation alone group (7 cases): 3 cases were type Ⅱ, 4 cases were type Ⅲ, all cases were found with typical TFH phenotype; 2 cases had HRS-like cells, 2 cases with large B transformation, and atypically; (4) non-mutation group (3 cases), all were type Ⅱ, with typical TFH phenotype, with significant extra-GC FDC proliferation, without HRS-like cells and large B transformation. Atypically, 1 case was TCR－/IG－. Univariate analysis confirmed that higher density of EBV positive cell was independent adverse prognostic factors for both overall survival (OS) and progression free survival(PFS), (P=0.017 and P=0.046). CONCLUSION: Pathological diagnoses of ALTL cases with HRS-like cells, large B transformation or type Ⅰ are difficult. Although TCR/IG gene rearrangement test is helpful but still with limitation. TES involving RHOA, IDH2, TET2, DNMT3A can robustly assist in the differential diagnosis of those difficult cases. Higher density of EBV positive cells counts in tumor tissue might be an indicator for poor survival.

Mammography-based radiomics analysis and imaging features for predicting the malignant risk of phyllodes tumours of the breast.

AIM: To determine whether the mammography (MG)-based radiomics analysis and MG/ultrasound (US) imaging features could predict the malignant risk of phyllodes tumours (PTs) of the breast. MATERIALS AND METHODS: Seventy-five patients with PTs were included retrospectively (39 with benign PTs, 36 with borderline/malignant PTs) and divided into thetraining (n=52) and validation groups (n=23). The clinical information, MG and US imaging characteristics, and histogram features were extracted from craniocaudal (CC) and mediolateral oblique (MLO) images. The lesion region of interest (ROI) and perilesional ROI were delineated. Multivariate logistic regression analysis was performed to determine the malignant factors of PTs. Receiver operating characteristic (ROC) curves were generated, and the area under the curve (AUC), sensitivity, and specificity were calculated. RESULTS: There was no significant difference found in the clinical or MG/US features between benign and borderline/malignant PTs. In the lesion ROI, variance in the CC view and mean and variance in the MLO view were independent predictors. The AUC was 0.942, sensitivity and specificity were 96.3% and 92%, respectively, in the training group. In the validation group, the AUC was 0.879, the sensitivity was 91.7%, and the specificity was 81.8%. In the perilesional ROI, the AUCs were 0.904 and 0.939, sensitivities were 88.9% and 91.7%, and the specificities were 92% and 90.9% in the training and validation groups, respectively. CONCLUSIONS: MG-based radiomic features could predict the risk of malignancy of patients with PTs and may be used as a potential tool to differentiate benign and borderline/malignant PTs.

[Mid-term outcome of deep layer repair with the long head of the biceps autograft bridging for Kim classification type â A delaminiated rotator cuff tear].

Objective: To investigate the mid-term clinical outcome of deep layer repair with the long head of the biceps autograft bridging for Kim classification type ⅠA delaminated rotator cuff tear. Methods: A follow-up study. The clinical data of 42 consecutive patients with Kim classification type ⅠA delaminated rotator cuff tear admitted to the First Affiliated Hospital of Jinan University from January 2018 to June 2019 were retrospectively included. All patients underwent shoulder arthroscopic surgery. During the operation, the autogenous long head of the biceps tendon was transferred to repair the deep layer of delaminated rotator cuff tear. The preoperative and postoperative (last follow-up) visual analogue scale (VAS) for pain, University of California Los Angeles (UCLA) score, Constant-Murley shoulder score, range of motion (ROM) of the shoulder and radiographic results were statistically analyzed. Results: A total of 42 patients were included in this study. There were 18 males and 24 females, with an average age of (64.5±15.2) years and a mean follow-up of (43.9±7.1) months. At the last follow-up, ROM of abduction increased from 80.8°±26.5° to 154.2°±14.3°, and ROM of external rotation increased from 18.2°±13.6° to 31.8°±7.8°; the VAS score of pain decreased from (5.5±1.3) points to (0.7±0.7) points, the UCLA score increased from (21.3±3.7) points to (29.9±2.1) points, and the Constant-Murley score increased from (45.4±10.0) points to (87.2±4.8) points; the differences were all statistically significant (all P<0.001). The X-ray films showed that there were no upward of the humeral head in all the patients. MRI results indicated that rotator cuff re-teared in one case (Sugaya classification type Ⅲ), and healed in other cases (Sugaya classification type Ⅰ-Ⅱ). No complications such as upper limb nerve injury was found in all cases. Conclusion: Deep layer repair with the long head of the biceps autograft bridging can significantly alleviate the pain and improve the function of patients with Kim classification type ⅠA delaminated rotator cuff tear, and the incidence of retear is low.

[Corrosive sclerosing cholangitis after surgical treatment of hepatic cystic echinococcosis: a case report].

Corrosive sclerosing cholangitis is a rare postoperative complication of hepatic cystic echinococcosis. Although corrosive sclerosing cholangitis is rare, it progresses rapidly and lacks effective treatments, which usually results in a poor prognosis. This case report retrospectively analyzed the treatment and diagnosis of a case with corrosive sclerosing cholangitis following surgical treatment of hepatic cystic echinococcosis, so as to provide insights into the diagnosis and treatment of corrosive sclerosing cholangitis.

[The role and mechanism of tumor metastasis-associated gene 1 in radiosensitivity of HeLa cells].

Objective: To determine the effect of tumor metastasis-associated gene 1 (MTA1) on the sensitivity of HeLa cells to radiotherapy, and to clarify its molecular mechanism. Methods: The transcriptome differences between MTA1 knocked down Hela cells and control cells were analyzed, and the differentially expressed genes (DEGs) was used to perform Gene-Set Enrichment Analysis (GSEA) and Gene Ontology (GO) cluster analysis. Flow cytometry was used to detect apoptosis in MTA1-overexpressed HeLa cells and control cells before and after 10 Gy X-ray irradiation. Cloning formation assay and real-time cellular analysis (RTCA) were used to monitor the cell proliferation before and after 2 Gy X-ray irradiation. To dissect the underlying molecular mechanisms of MTA1 affecting the sensitivity of radiotherapy, the proteins encoded by the DEGs were selected to construct a protein-protein interaction network, the expression of γ-H2AX was detected by immunofluorescence assay, and the expression levels of γ-H2AX, ß-CHK2, PARP and cleaved caspase 3 were measured by western blot. Results: By transcriptome sequencing analysis, we obtained 649 DEGs, of which 402 genes were up-regulated in MTA1 knockdown HeLa cells and 247 genes were down-regulated. GSEA results showed that DEGs associated with MTA1 were significantly enriched in cellular responses to DNA damage repair processes. The results of flow cytometry showed that the apoptosis rate of MTA1 over-expression group (15.67±0.81)% after 10 Gy X-ray irradiation was significantly lower than that of the control group [(40.27±2.73)%, P<0.001]. After 2 Gy X-ray irradiation, the proliferation capacity of HeLa cells overexpressing MTA1 was higher than that of control cells (P=0.024). The numbers of colon in MTA1 over-expression group before and after 2 Gy X-ray irradiation were (176±7) and (137±7) respectively, higher than (134±4) and (75±4) in control HeLa cells (P<0.05). The results of immunofluorescence assay showed that there was no significant expression of γ-H2AX in MTA1 overexpressed and control HeLa cells without X-ray irradiation. Western blot results showed that the expression level of ß-CHK2 in MTA1-overexpressing HeLa cells (1.04±0.06) was higher than that in control HeLa cells (0.58±0.25, P=0.036) after 10 Gy X-ray irradiation. The expression levels of γ-H2AX, PARP, and cleaved caspase 3 were 0.52±0.13, 0.52±0.22, and 0.63±0.18, respectively, in HeLa cells overexpressing MTA1, which were lower than 0.87±0.06, 0.78±0.12 and 0.90±0.12 in control cells (P>0.05). Conclusions: This study showed that MTA1 is significantly associated with radiosensitivity in cervical cancer HeLa cells. MTA1 over-expression obviously reduces the sensitivity of cervical cancer cells to X-ray irradiation. Mechanism studies initially indicate that MTA1 reduces the radiosensitivity of cervical cancer cells by inhibiting cleaved caspase 3 to suppress apoptosis and increasing ß-CHK2 to promote DNA repair.

[Clinical analysis of multiple myeloma with second primary malignancies and multiple myeloma secondary to malignancies].

Objective: To compare the clinical characteristics and survival outcomes of multiple myeloma (MM) with second primary malignancies (SPMs) and MM secondary to malignancies. Methods: The clinical data of MM patients diagnosed and treated in Beijing Chaoyang Hospital, Capital Medical University from January 2002 to January 2021 were included. The patients were divided into two groups: MM with SPMs group and MM secondary to malignancies group. The gender, age at first diagnosis, classification, stage, type of combined malignant tumor and the treatment were analyzed. The clinical characteristics and survival differences were compared between the two groups. Results: There were 20 patients in the MM with SPMs group, 9 males and 11 females, aged [M(Q1,Q3)] 61.5(56.8, 68.0)years, and the overall survival (OS) was 49.5(32, 58) months, while the time to death from secondary tumor was 12(4,21)months. There were 29 patients in the MM secondary to malignancies group, 13 males and 16 females, aged 64.0(57.0, 71.0)years, and the OS was 97(61, 171) months, while the time to death from secondary MM was 32(18, 47) months. The time from patients diagnosed with MM to SPMs was 37(18, 50) months, which was significantly earlier than that of MM secondary to malignancies [53(31,117) months](P=0.016). The type of tumor was also different between the two groups (P<0.001). In the group of MM with SPMs, the most common type of SPMs was hematopoietic malignancies (12/20, 60.0%), whereas in the group of MM secondary to malignancies, MM was most often secondary to genitourinary malignancies (13/29, 44.8%) (P<0.001). Conclusions: Both MM with SPMs and MM secondary to malignancies can affect the survival of patients. Secondary hematological malignancies account for a high proportion of the second tumors in MM patients, while genitourinary malignancies account for a high proportion of malignant tumors associated with MM.

[The prognostic value of dynamic minimal residual disease after autologous hematopoietic stem cell transplantation in patients with multiple myeloma in novel-agent era].

Objective: To investigate the clinical prognostic value of dynamic minimal residual disease (MRD) after autologous hematopoietic stem cell transplantation (AHSCT) in patients with multiple myeloma (MM). Methods: Patients with MM who underwent AHSCT in Beijing Chao-Yang Hospital from February 2016 to December 2019 were enrolled in this study. All the patients in the study had complete baseline data at the diagnosis. AHSCT was performed after induction chemotherapy. Response evaluation was performed after induction therapy. All the patients were assessed at approximately 100 days after AHSCT. Bone marrow MRD by NGF was performed every three months and dynamically monitored for at least 12 months. All the patients were divided into different groups according to cytogenetics and MRD status. Survivals in different groups were analyzed by IBM SPSS 22.0 statistical software. Results: A total of 150 patients with MM were enrolled in this study at last, including 66 patients in the cytogenetic standard risk group and 84 patients in the cytogenetic high-risk group. The median age was 54 years (range 30-68 years) and 87 male patients (58.0%) was in the study. The median follow-up was 36 months (range 16-72 months). Patients in the standard-risk group had better clinical prognosis than those in the high-risk group [median PFS in the standard-risk group was not achieved, and median PFS in the high-risk group was 45 months (P<0.001); median OS of both groups was not reached, and the estimated 3-year OS rate of the standard-risk group and the high-risk group was 95.2% and 78.9%, respectively (P=0.001)]. According to MRD status of patients, patients in each group were divided into three subgroups: persistent positive (Ppos), transient negative (Tneg) and persistent negative (Pneg). The median OS and median PFS of all subgroups in the standard-risk group was not reached (P=0.324 and P=0.086). In high-risk group, the median OS of MRD Pneg subgroup was not reached, and the estimated 3-year OS rate was 100%; The median OS of MRD Ppos subgroup was 52 months, and MRD Tneg subgroup only 31 months (P=0.002); the median PFS of MRD Pneg group was not reached, and the estimated 3-year PFS rate was 85.4%; median PFS of MRD Ppos subgroup was 40 months, and MRD Tneg subgroup only 17 months (P=0.001). Conclusions: MRD Pneg might overcome the adverse prognosis of MM patients with high-risk cytogenetics. However, MRD Tneg might be a poor prognostic factor for the patients with cytogenetic high-risk MM.

[Influence of visceral lipids obesity on the early postoperative complications after radical gastrectomy].

Objective: To investigate the effect of visceral fat area (VFA) on the surgical efficacy and early postoperative complications of radical gastrectomy for gastric cancer. Methods: A retrospective cohort study method was used. Clinicopathological data and preoperative imaging data of 195 patients who underwent D2 radical gastric cancer surgery at the First Affiliated Hospital of Xi'an Jiaotong University from January 2014 to December 2017 were analyzed retrospectively. Inclusion criteria: (1) complete clinicopathological and imaging data; (2) malignant gastric tumor diagnosed by preoperative pathology, and gastric cancer confirmed by postoperative pathology; (3) no preoperative complications such as bleeding, obstruction or perforation, and no distant metastasis. Those who had a history of abdominal surgery, concurrent malignant tumors, poor basic conditions, emergency surgery, palliative resection, and preoperative neoadjuvant therapy were excluded. The VFA was calculated by software and VFA ≥ 100 cm2 was defined as visceral obesity according to the Japan Obesity Association criteria . The patients were divided into high VFA (VFA-H, VFA≥100 cm2, n=96) group and low VFA (VFA-L, VFA<100 cm2, n=99) group . The clinicopathological characteristics, surgical outcomes and early postoperative complications were compared between the two groups. Univariate and multivariate Logistic regression models were used to analyze the risk factors of early complications. Receiver operating characteristic (ROC) curve was used to analyze predictive values of VFA for early complications. Pearson's χ2 test was used to analyze the correlation between BMI and VFA. Results: There were no significant differences in terms of gender, age, American Society of Anesthesiologists physical status classification, preoperative comorbidities, preoperative anemia, tumor TNM staging, N staging, T staging and tumor differentiation, surgical method, extent of resection, and tumor location between the VFA-L group and the VFA-H group (all P>0.05). However, patients in the VFA-H group had higher BMI, larger tumor, lower rate of hypoalbuminemia and greater subcutaneous fat area (SFA) (all P<0.05). The VFA-H group presented significantly longer operation time and significantly less number of harvested lymph nodes as compared to the VFA-L group (both P<0.05). However, there were no significant differences in intraoperative blood loss, conversion to laparotomy and postoperative hospital stay (all P>0.05). Complications of Clavien-Dindo grade II and above within 30 days after operation were mainly anastomosis-related complications (leakage, bleeding, infection and stricture), intestinal obstruction and incision infection. The VFA-H group had a higher morbidity of early complications compared to the VFA-L group [24.0% (23/96) vs 10.1% (10/99), χ2=6.657, P=0.010], and the rates of anastomotic complications and incision infection were also higher in the VFA group [10.4% (10/96) vs. 3.0% (3/99), χ2=4.274, P=0.039; 7.3% (7/96) vs. 1.0% (1/99), P=0.033]. Multivariate logistic analysis showed that high BMI (OR=3.688, 95%CI: 1.685-8.072, P=0.001) and high VFA (OR=2.526, 95%CI: 1.148-5.559,P=0.021) were independent risk factors for early complications. The area under the ROC curve (AUC) of VFA for predicting early complications was 0.645, which was higher than that of body weight (0.591), BMI (0.624) and SFA (0.626). Correlation analysis indicated that there was a significantly positive correlation between BMI and VFA (r=0.640, P<0.001). Conclusion: VFA ≥ 100 cm2 is an independent risk factor for early complications after radical gastrectomy for gastric cancer.It can better predict the occurrence of above early postoperative complications.