1.PTEN Mutation Related Unilateral Multicentric, Synchronous and Metachronous Bilateral Breast Cancer: Three Case Reports
Ru YAO ; Xu YANG ; Yang QU ; Jie LIAN ; Jiahui ZHANG ; Xin HUANG ; Chang CHEN ; Xinyu REN ; Bo PAN ; Yidong ZHOU ; Qiang SUN
Medical Journal of Peking Union Medical College Hospital 2024;15(4):916-920
Phosphatase and tensin-homolog deleted on chromosome 10 (PTEN) is an important cancer suppressor gene. Its pathogenic mutation leads to PTEN hamartoma tumor syndrome (PHTS), a rare syndrome also known as Cowden syndrome, which is relevant to early-onset hereditary breast cancer (BC). In this paper, we report three patients with unilateral multicentric BC and synchronous and metachronous bilateral BC who harbored PTEN gene mutations, and summarize the clinical manifestations, pathological characteristics, diagnosis, treatment and follow-up outcomes to provide reference for management of PTEN gene mutation-related BC among the Cowden syndrome population.
2.Establishment and Application of a Duplex Real Time Fluorogenic Quantitative PCR Assay System for miR-451a and miR-21-5p
Shu-Xiao HU ; Hui-Xiang CHEN ; Sheng HU ; Yi-Xia ZHAO ; An-Quan JI ; Yang LI ; Jie LIAN ; Qi-Fan SUN
Progress in Biochemistry and Biophysics 2024;51(3):706-715
ObjectiveBody fluid stains left at crime scenes are frequently trace amounts, while the identification of body fluids through real time fluorogenic quantitative technique often necessitates the repeated detection within the limited sample, as multiple miRNA markers are the basis for the identification. Based on the goal of both the throughput and efficiency improvement of miRNA analysis in trace samples, a duplex real time fluorogenic quantitative PCR assay system was designed to accurately quantify two miRNAs simultaneously, and the system should be further verified by actual sample for the body fluid identification. MethodsThe duplex real time fluorogenic quantitative PCR system of miR-451a to miR-21-5p was established with specially designed primers and probes, and the concentrations of the primers and probes were both optimized. The specificity, sensitivity and reproducibility of the system were validated, while its capability for body fluid identification was assessed using the miR-451a to miR-21-5p ratio. ResultsThe optimized assay system exhibited excellent specificity and repeatability, with coefficients of variation consistently below 8% for both intra- and inter-batch variability. The amplification efficiency of miR-451a and miR-21-5p reached 71.77% and 74.81%, respectively, with high and relatively consistent results. By utilizing this duplex real time fluorogenic quantitative PCR assay system, a total of 58 body fluid samples were analyzed, exhibiting a discrimination rate of 100% between blood and non-blood samples, as well as between peripheral blood and menstrual blood samples. Moreover, the results, obtained from single real time fluorogenic quantitative PCR assay system and duplex real time fluorogenic quantitative PCR assay system, showed no statistically significant difference with randomly selected blood samples (n=20). Compared to previous single real time fluorogenic quantitative PCR assay system, the sensitivity of duplex real time fluorogenic quantitative PCR assay system exhibited remarkable improvement. A minimum input of only 0.1 ng total RNA was sufficient for accurate detection of peripheral blood and menstrual blood samples, while saliva, semen, and vaginal secretion required only 1 ng total RNA for precise identification purposes. Additionally, the duplex real time fluorogenic quantitative PCR assay system successfully differentiated between different types of body fluids in simulated samples under natural outdoor conditions. ConclusionThe duplex real time fluorogenic quantitative PCR assay system effectively reduced both the time and material costs by half compared to the single system, especially suitable for the examination of body fluid stains left at crime scenes, solving the contradiction between the trace amount and the multiple sample volumes demand of repeated real time fluorogenic quantitative PCR. The duplex real time fluorogenic quantitative PCR assay successfully distinguished blood and other body fluid, as well as peripheral blood and menstrual blood samples, which maintains an equivalent capability for body fluid identification with half sample, time and reagent consumption. This system provides an efficient tool for identifying suspicious body fluids, as well as a foundation for more multiplexed real time fluorogenic quantitative PCR assay system research.
3.Developing Syllabus for Rare Breast Diseases Using the Integrated Multimodality of Case-/Problem-/Resource-Based Learning
Ru YAO ; Jiahui ZHANG ; Jie LIAN ; Yang QU ; Xinyue ZHANG ; Xin HUANG ; Lu GAO ; Jun ZHAO ; Li HUANG ; Yingzi JIANG ; Linzhi LUO ; Songjie SHEN ; Feng MAO ; Qiang SUN ; Bo PAN ; Yidong ZHOU
JOURNAL OF RARE DISEASES 2024;3(3):391-399
Objective This study aims at establishing a teaching catalog and content for breast rare dis-eases and developing the syllabus for the breast rare disease using integrated multimodality of case-/problem-/resource-based learning(CBL+PBL+RBL).Methods By conducting bibliometrics co-occurrence analysis,we collected 6291 articles on breast rare disease published from January,1975 to June,2024.Additionally,we re-trieved the Textbook on Rare Diseases,the Catalog of Chinese Rare Disease,and Second Batch of Rare Dis-ease Catalog and then decided the teaching content.Results From 16,387 keywords,1000(6.1%)keywords were identified through co-occurrence analysis,including 50(0.3%)candidate diseases.These were classified into three categories:rare primary breast diseases,rare genetic mutation-related diseases associated with breast cancer,and rare systemic multi-system diseases involving the breast.From the candidate list,20(0.1%)rare primary breast diseases were further selected for their notable clinical teaching significance,and significant multi-systemic diseases affecting the breast,whether related to gene mutations or not.Teaching plans were draf-ted using a diversified parallel teaching approaches,taking into account the characteristics of different diseases and the focus of different teaching methods.Conclusions This study initiated the development of the teaching content for breast rare diseases and developed the teaching syllabus using the CBL+PBL+RBL integrated multi teaching model and targeting each rare breast disease for the critical point for teaching.
4.Assessment of respiratory protection competency of staff in healthcare facilities
Hui-Xue JIA ; Xi YAO ; Mei-Hua HU ; Bing-Li ZHANG ; Xin-Ying SUN ; Zi-Han LI ; Ming-Zhuo DENG ; Lian-He LU ; Jie LI ; Li-Hong SONG ; Jian-Yu LU ; Xue-Mei SONG ; Hang GAO ; Liu-Yi LI
Chinese Journal of Infection Control 2024;23(1):25-31
Objective To understand the respiratory protection competency of staff in hospitals.Methods Staff from six hospitals of different levels and characteristics in Beijing were selected,including doctors,nurses,medical technicians,and servicers,to conduct knowledge assessment on respiratory protection competency.According to exposure risks of respiratory infectious diseases,based on actual cases and daily work scenarios,content of respira-tory protection competency assessment was designed from three aspects:identification of respiratory infectious di-seases,transmission routes and corresponding protection requirements,as well as correct selection and use of masks.The assessment included 6,6,and 8 knowledge points respectively,with 20 knowledge points in total,all of which were choice questions.For multiple-choice questions,full marks,partial marks,and no mark were given respective-ly if all options were correct,partial options were correct and without incorrect options,and partial options were correct but with incorrect options.Difficulty and discrimination analyses on question of each knowledge point was conducted based on classical test theory.Results The respiratory protection competency knowledge assessment for 326 staff members at different risk levels in 6 hospitals showed that concerning the 20 knowledge points,more than 60%participants got full marks for 6 points,while the proportion of full marks for other questions was relatively low.Less than 10%participants got full marks for the following 5 knowledge points:types of airborne diseases,types of droplet-borne diseases,conventional measures for the prevention and control of healthcare-associated infec-tion with respiratory infectious diseases,indications for wearing respirators,and indications for wearing medical protective masks.Among the 20 knowledge questions,5,1,and 14 questions were relatively easy,medium,and difficult,respectively;6,1,4,and 9 questions were with discrimination levels of ≥0.4,0.30-0.39,0.20-0.29,and ≤0.19,respectively.Conclusion There is still much room for hospital staff to improve their respiratory protection competency,especially in the recognition of diseases with different transmission routes and the indications for wearing different types of masks.
5.Effects of tramadol hydrochloride preemptive analgesia in kyphoplasty of thoracolumbar osteoporotic fractures un-der local anesthesia
Guo-Qing LI ; Hua-Guo ZHAO ; Shao-Hua SUN ; Wei-Hu MA ; Hao-Jie LI ; Yang WANG ; Lian-Song LU ; Chao-Yue RUAN
China Journal of Orthopaedics and Traumatology 2024;37(6):560-564
Objective To explore preemptive analgesic effect of preoperative intramural tramadol injection in percutaneous kyphoplasty(PKP)of vertebrae following local anesthesia.Methods From August 2019 to June 2021,118 patients with thora-co lumbar osteoporotic fractures were treated and divided into observation group and control group,with 59 patients in each gruop.In observation group,there were 26 males and 33 females,aged from 57 to 80 years old with an average of(67.69±4.75)years old;14 patients on T11,12 patients on T12,18 patients on L1,15 patients on L2;tramadol with 100 mg was injected intramuscularly half an hour before surgery in observation group.In control group,there were 24 males and 35 females,aged from 55 to 77 years old with an average of(68.00±4.43)years old;19 patients on T11,11 patients on T12,17patients on L1,12 patients on L2;the same amount of normal saline was injected intramuscularly in control group.Observation indicators included operation time,intraoperative bleeding,visual analogue scale(VAS)evaluation and recording of preoperative(T0),intraoper-ative puncture(T1),and working cannula placement(T2)between two groups of patients,at the time of balloon dilation(T3),when the bone cement was injected into the vertebral body(T4),2 hours after the operation(T5),and the pain degree at the time of discharge(T6);adverse reactions such as dizziness,nausea and vomiting were observed and recorded;the record the patient's acceptance of repeat PKP surgery.Results All patients were successfully completed PKP via bilateral pedicle ap-proach,and no intravenous sedative and analgesic drugs were used during the operation.There was no significant difference in preoperative general data and VAS(T0)between two groups(P>0.05).There was no significant difference in operation time and intraoperative blood loss between the two groups(P>0.05).VAS of T1,T2,T3,T4 and T5 in observation group were all lower than those in control group(P<0.05),and there was no significant difference in T6 VAS(P>0.05).T6 VAS between two groups were significantly lower than those of T0,and the difference was statistically significant(P<0.05).There was no signifi-cant difference in incidence of total adverse reactions between two groups(P>0.05).There was a statistically significant differ-ence in the acceptance of repeat PKP surgery(P<0.05).Conclusion Half an hour before operation,intramuscular injection of tramadol has a clear preemptive analgesic effect for PKP of single-segment thoracolumbar osteoporotic fracture vertebral body under local anesthesia,which could increase the comfort of patients during operation and 2 hours after operation,and improve patients satisfaction with surgery.
6.Clinical study of isthmic spondylolisthesis treated with Mis-TLIF assisted by preoperative posture reduction and in-traoperative lifting reduction
Lian-Song LU ; Shao-Hua SUN ; Hao-Jie LI ; Yong HU ; Wei-Hu MA
China Journal of Orthopaedics and Traumatology 2024;37(10):965-971
Objective To investigate the clinical effect of minimally invasive transforaminal lumbar interbody fusion(Mis-TLIF)technique combined with preoperative position reduction in the treatment of spondylolisthesis and summarize its advan-tages.Methods Between July 2016 and July 2022,60 patients with lumbar isthmic spondylolisthesis were retrospectively ana-lyzed,including 26 males and 34 females,with an average age of(51.32±4.24)years old ranging from 35 to 72 years old.They were divided into observation group and control group according to the operation methods.There were 30 patients in the obser-vation group,including 12 males and 18 females;the age ranged from 35 to 71 years old with an average of(51.80±6.38)years old,the course of disease ranged from 12 to 60 months with an average of(24.17±1.98)months;there were 18 cases of L4 spondylolisthesis and 12 cases of L5 spondylolisthesis;according to Meyerding classification,there were 20 cases of grade Ⅰspondylolisthesis and 10 cases of grade Ⅱ.The observation group was treated with preoperative postural reduction combined with intraoperative reduction assisted minimally invasive transforaminal lumbar fusion via Quadrant channel(Mis-TLIF).There were 30 patients in the control group,including 14 males and 16 females,with an average of(50.00±4.24)years old ranging from 36 to 72 years old;the course of disease ranged from 12 to 60 months with an average of(23.70±1.53)months;there were 16 cases of L4 spondylolisthesis and 14 cases of L5 spondylolisthesis;according to Meyerding classification,there were 19 cases of grade Ⅰ spondylolisthesis and 11 cases of grade Ⅱ.The control group was treated with open transforaminal lumbar interbody fusion(Open-TLIF).The differences of operation time,intraoperative and postoperative blood loss,hospital stay,radiation exposure time and complications between the two groups were analyzed.Visual analogue scale(VAS),Oswestry disability index(ODI)and Japanese Orthopaedic Association(JOA)score were used to evaluate the clinical effect.X-ray and CT were followed up to evaluate the interbody fusion.Results All patients were followed up for 12 months.There was no signifi-cant difference in operation time,VAS of low back pain,slip angle and slip rate between two groups(P>0.05).The intraoperative and postoperative blood loss in the observation group(165.50±15.56)ml and(59.17±10.59)ml were less than those in the con-trol group(259.33±35.32)ml and(165.33±29.56)ml(P<0.05).The length of hospital stay in the observation group(3.53±0.68)days was less than that in the control group(5.20±0.41)days(P<0.05).The intervertebral space height,slip angle,slip rate,ODI,VAS and JOA scores were significantly improved in the two groups at the final follow-up(P<0.05).There were signifi-cant differences in ODI[(9.93±1.11)%vs(10.93±1.11)%]and JOA[(26.07±1.01)points vs(25.43±1.25)points]between the observation group and the control group at the final follow-up(P<0.05).Conclusion In the treatment of spondylolisthesis,preoperative position reduction combined with intraoperative reduction assisted Mis-Tlif technique has advantages of less trau-ma,less bleeding and shorter hospitalization period than traditional open surgery.It is a safe and effective technique.
7.Methodological establishment of PTV and PRV margins for MRI guided online adapt-to-position radiotherapy for intracranial tumors
Qiu GUAN ; Nan LIU ; Xin LIAN ; Tingting DONG ; Yunliang SUN ; Hao LIANG ; Wei TIAN ; Lang YU ; Bo YANG ; Jie QIU
Chinese Journal of Radiation Oncology 2024;33(12):1106-1111
Objective:To establish a method for obtaining planning target volume (PTV) and planning risk volume (PRV) margins caused by rotation in the use of adapt-to-position (ATP) modality of magnetic resonance linear accelerator (MRL) for patients with intracranial tumors.Methods:Clinical data of 6 patients with intracranial tumors (150 fractions in total) who received MRI-guided online ATP radiotherapy in Peking Union Medical College Hospital from November 2023 to January 2024 were retrospectively analyzed. The pre-planned CT structure was copied onto each segmented MR image and then the structures were traced back to the CT image according to the three-dimensional registration relationship. The anisotropic distance of the structure based on the original CT structure was calculated to obtain the variation range of the target and the organs at risk. The maximum anisotropic value was taken as the result of the PTV and the relationship between the results and intracranial location of different patients was analyzed. Group comparison was performed by Chi-square test. Two group comparison was conducted by post-hoc Wilcoxon signed-rank test. Results:After the rotation deviation was included, the range of target changes in the six directions of left and right (L/R), anterior and posterior (A/P) and superior and inferior (S/I) of the 6 patients were: (1.24± 0.86) mm/(1.91± 1.07) mm, (2.02± 1.26) mm/(1.66± 1.07) mm, (1.84± 1.84) mm /(2.94±1.93) mm, respectively. The results in the SI direction were significantly different, and the values in the I direction in 2 patients exceeded 4 mm, the margins suitable for all patients were 3.01 mm/2.4 mm(A/P), 1.9 mm/2.93 mm(L/R) and 3.14 mm/4.62 mm(S/I) in different directions, respectively. The L/R direction of the lens and the S/I direction of the optic nerve were significantly changed, and the A/P direction of the brain stem was (3.99± 4.64) mm. Larger values might be required when the target was in the posterior brain (left-down area, right-down area).Conclusions:The rotation deviation, organ movement and intracranial location affect the PTV and the organs at risk PRV in the MRI-guided ATP modality in intracranial tumors patients. The margin generation method based on image fusion can help to quantify the margin value reasonably.
8.In vitro heat insulation efficacy of 5% dextrose versus 0.9% saline during radiofrequency ablation
Yanping MA ; Jinfen WANG ; Tao WU ; Bowen ZHENG ; Tinghui YIN ; Yufan LIAN ; Jie REN
Ultrasonography 2024;43(5):376-383
Purpose:
This study compared the efficacy of heat insulation between 5% dextrose and 0.9% saline in radiofrequency ablation (RFA). Accordingly, temperature variations and maximum temperatures were assessed at identical distances and heat field distributions.
Methods:
Cubes of porcine liver tissue, measuring 10 mm across, were selected to precisely align the ablation boundary with the tissue boundary. An 18-gauge electrode with a 7-mm tip was inserted into each cube (10 per group) in a stainless-steel cup containing 40 mL of 5% dextrose or 0.9% saline. Fixed ablation was performed for 3 minutes using continuous mode at 30 W, simulating the typical thermal environment during thyroid RFA. Real-time temperature measurements were recorded by sensors positioned 0, 1, 3, and 5 mm from the cube’s edge. A comparative analysis was conducted to assess the maximum temperature, temperature variation, and duration of temperatures exceeding 42℃.
Results:
In both groups, the temperature curve declined with increasing distance from the edge of the ablated tissue. However, 0.9% saline exhibited higher maximum temperatures at 1, 3, and 5 mm compared to 5% dextrose (1 mm: 44.55°C±5.25°C vs. 34.68°C±3.07°C; 3 mm: 39.64°C±2.53°C vs. 29.22°C±2.21°C; 5 mm: 38.86°C±2.14°C vs. 28.74°C±2.51°C; all P<0.001). Considering a nerve injury threshold of 42°C, the 0.9% saline also displayed a greater proportion of samples reaching this temperature and a longer duration of temperatures exceeding it (P<0.05).
Conclusion
The heat insulation efficacy of 5% dextrose at 1-5 mm exceeds that of 0.9% saline at identical distances and in a common thermal environment during thyroid RFA.
9.In vitro heat insulation efficacy of 5% dextrose versus 0.9% saline during radiofrequency ablation
Yanping MA ; Jinfen WANG ; Tao WU ; Bowen ZHENG ; Tinghui YIN ; Yufan LIAN ; Jie REN
Ultrasonography 2024;43(5):376-383
Purpose:
This study compared the efficacy of heat insulation between 5% dextrose and 0.9% saline in radiofrequency ablation (RFA). Accordingly, temperature variations and maximum temperatures were assessed at identical distances and heat field distributions.
Methods:
Cubes of porcine liver tissue, measuring 10 mm across, were selected to precisely align the ablation boundary with the tissue boundary. An 18-gauge electrode with a 7-mm tip was inserted into each cube (10 per group) in a stainless-steel cup containing 40 mL of 5% dextrose or 0.9% saline. Fixed ablation was performed for 3 minutes using continuous mode at 30 W, simulating the typical thermal environment during thyroid RFA. Real-time temperature measurements were recorded by sensors positioned 0, 1, 3, and 5 mm from the cube’s edge. A comparative analysis was conducted to assess the maximum temperature, temperature variation, and duration of temperatures exceeding 42℃.
Results:
In both groups, the temperature curve declined with increasing distance from the edge of the ablated tissue. However, 0.9% saline exhibited higher maximum temperatures at 1, 3, and 5 mm compared to 5% dextrose (1 mm: 44.55°C±5.25°C vs. 34.68°C±3.07°C; 3 mm: 39.64°C±2.53°C vs. 29.22°C±2.21°C; 5 mm: 38.86°C±2.14°C vs. 28.74°C±2.51°C; all P<0.001). Considering a nerve injury threshold of 42°C, the 0.9% saline also displayed a greater proportion of samples reaching this temperature and a longer duration of temperatures exceeding it (P<0.05).
Conclusion
The heat insulation efficacy of 5% dextrose at 1-5 mm exceeds that of 0.9% saline at identical distances and in a common thermal environment during thyroid RFA.
10.In vitro heat insulation efficacy of 5% dextrose versus 0.9% saline during radiofrequency ablation
Yanping MA ; Jinfen WANG ; Tao WU ; Bowen ZHENG ; Tinghui YIN ; Yufan LIAN ; Jie REN
Ultrasonography 2024;43(5):376-383
Purpose:
This study compared the efficacy of heat insulation between 5% dextrose and 0.9% saline in radiofrequency ablation (RFA). Accordingly, temperature variations and maximum temperatures were assessed at identical distances and heat field distributions.
Methods:
Cubes of porcine liver tissue, measuring 10 mm across, were selected to precisely align the ablation boundary with the tissue boundary. An 18-gauge electrode with a 7-mm tip was inserted into each cube (10 per group) in a stainless-steel cup containing 40 mL of 5% dextrose or 0.9% saline. Fixed ablation was performed for 3 minutes using continuous mode at 30 W, simulating the typical thermal environment during thyroid RFA. Real-time temperature measurements were recorded by sensors positioned 0, 1, 3, and 5 mm from the cube’s edge. A comparative analysis was conducted to assess the maximum temperature, temperature variation, and duration of temperatures exceeding 42℃.
Results:
In both groups, the temperature curve declined with increasing distance from the edge of the ablated tissue. However, 0.9% saline exhibited higher maximum temperatures at 1, 3, and 5 mm compared to 5% dextrose (1 mm: 44.55°C±5.25°C vs. 34.68°C±3.07°C; 3 mm: 39.64°C±2.53°C vs. 29.22°C±2.21°C; 5 mm: 38.86°C±2.14°C vs. 28.74°C±2.51°C; all P<0.001). Considering a nerve injury threshold of 42°C, the 0.9% saline also displayed a greater proportion of samples reaching this temperature and a longer duration of temperatures exceeding it (P<0.05).
Conclusion
The heat insulation efficacy of 5% dextrose at 1-5 mm exceeds that of 0.9% saline at identical distances and in a common thermal environment during thyroid RFA.

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