1.A case of atypical pantothenate kinase-associated neurodegeneration with parkinsonism as the initial manifestations
Ningning MEI ; Hong JIANG ; Lulu ZHENG ; Yan CUI ; Lei LI ; Xinying TIAN
Chinese Journal of Neurology 2025;58(11):1216-1220
This article reports a rare case of pantothenate kinase-associated neurodegeneration: the patient′s initial symptoms were Parkinson-like symptoms such as tremor and bradykinesia, as well as dysarthria. Brain magnetic resonance imaging showed abnormal signals in the bilateral basal ganglia region similar to the tiger′s eye sign. Two heterozygous mutations including c.803A>G(p.Asp268Gly) and c.1021C>T(p.Arg341 *) were found in the pantothenate kinase 2 gene by whole exome sequencing, and the final diagnosis was neurodegeneration with brain iron accumulation type 1, also known as pantothenate kinase-associated neurodegeneration. By reviewing the clinical characteristics, diagnostic approaches and therapeutic strategies, this article aims to enhance the recognition of this disease, avoid misdiagnosis and missed diagnosis, and provide guidance for clinical diagnosis and treatment.
2.A case report of papillary cystadenocarcinoma of the prostate
Bo LIU ; Ningning TIAN ; Shuaibing LIU ; Qingjiao ZHANG ; Chengwen LI
Chinese Journal of Urology 2025;46(2):151-152
Papillary cystadenocarcinoma of the prostate is a clinically rare condition, and we admitted one case in September 2022. The patient was an 82-year-old male presenting with asymptomatic gross hematuria for one week. Cystoscopy revealed a papillary lesion located anterior to the verumontanum. During surgery, resection of the urethral lesion and prostate tissue showed that the tumor base originated from the cystically dilated prostate gland with multiple papillary lesions. Postoperative pathological diagnosis confirmed papillary cystadenocarcinoma of the prostate. The patient was followed up for 18 months without recurrence of hematuria or other symptoms. Papillary cystadenocarcinoma of the prostate exhibits distinct aggressive and recurrent characteristics. For patients with a pathologically confirmed diagnosis, given the current unclear effectiveness of radiotherapy and chemotherapy, it is advisable to prioritize radical surgical treatment and/or lymph node dissection in patients with good general condition to achieve a better prognosis.
3.A case report of papillary cystadenocarcinoma of the prostate
Bo LIU ; Ningning TIAN ; Shuaibing LIU ; Qingjiao ZHANG ; Chengwen LI
Chinese Journal of Urology 2025;46(2):151-152
Papillary cystadenocarcinoma of the prostate is a clinically rare condition, and we admitted one case in September 2022. The patient was an 82-year-old male presenting with asymptomatic gross hematuria for one week. Cystoscopy revealed a papillary lesion located anterior to the verumontanum. During surgery, resection of the urethral lesion and prostate tissue showed that the tumor base originated from the cystically dilated prostate gland with multiple papillary lesions. Postoperative pathological diagnosis confirmed papillary cystadenocarcinoma of the prostate. The patient was followed up for 18 months without recurrence of hematuria or other symptoms. Papillary cystadenocarcinoma of the prostate exhibits distinct aggressive and recurrent characteristics. For patients with a pathologically confirmed diagnosis, given the current unclear effectiveness of radiotherapy and chemotherapy, it is advisable to prioritize radical surgical treatment and/or lymph node dissection in patients with good general condition to achieve a better prognosis.
4.A case of atypical pantothenate kinase-associated neurodegeneration with parkinsonism as the initial manifestations
Ningning MEI ; Hong JIANG ; Lulu ZHENG ; Yan CUI ; Lei LI ; Xinying TIAN
Chinese Journal of Neurology 2025;58(11):1216-1220
This article reports a rare case of pantothenate kinase-associated neurodegeneration: the patient′s initial symptoms were Parkinson-like symptoms such as tremor and bradykinesia, as well as dysarthria. Brain magnetic resonance imaging showed abnormal signals in the bilateral basal ganglia region similar to the tiger′s eye sign. Two heterozygous mutations including c.803A>G(p.Asp268Gly) and c.1021C>T(p.Arg341 *) were found in the pantothenate kinase 2 gene by whole exome sequencing, and the final diagnosis was neurodegeneration with brain iron accumulation type 1, also known as pantothenate kinase-associated neurodegeneration. By reviewing the clinical characteristics, diagnostic approaches and therapeutic strategies, this article aims to enhance the recognition of this disease, avoid misdiagnosis and missed diagnosis, and provide guidance for clinical diagnosis and treatment.
5.Adaptive ultra-hypofractionated whole-pelvic radiotherapy in high-risk and very high-risk prostate cancer on 1.5-Tesla MR-Linac: Estimated delivered dose and early toxicity results
Linrui GAO ; Ran WEI ; Shirui QIN ; Yuan TIAN ; Wenlong XIA ; Yongwen SONG ; Shulian WANG ; Hui FANG ; Yu TANG ; Hao JING ; Yueping LIU ; Yuan TANG ; Shunan QI ; Bo CHEN ; Yexiong LI ; Nianzeng XING ; Ningning LU
Chronic Diseases and Translational Medicine 2024;10(1):51-61
Background::Magnetic resonance (MR)-guided ultra-hypofractionated radiotherapy with whole-pelvic irradiation (UHF-WPRT) is a novel approach to radiotherapy for patients with high-risk (HR) and very high-risk (VHR) prostate cancer (PCa). However, the inherent complexity of adaptive UHF-WPRT might inevitably result in longer on-couch time. We aimed to estimate the delivered dose, study the feasibility and safety of adaptive UHF-WPRT on a 1.5-Tesla MR-Linac.Methods::Ten patients with clinical stage T3a-4N0-1M0-1c PCa, who consecutively received UHF-WPRT, were enrolled prospectively. The contours of the target and organ-at-risks on the position verification-MR (PV-MR), beam-on 3D-MR(Bn-MR), and post-MR (after radiotherapy delivery) were derived from the pre-MR data by deformable image registration. The physician then manually adjusted them, and dose recalculation was performed accordingly. GraphPad Prism 9 (GraphPad Prism Software Inc.) was utilized for conducting statistical analyses.Results::In total, we collected 188 MR scans (50 pre-MR, 50 PV-MR, 44 Bn-MR, and 44 post-MR scans). With median 59 min, the mean prostate clinical target volume (CTV)-V 100% was 98.59% ± 2.74%, and the mean pelvic CTVp-V 100% relative percentages of all scans was 99.60% ± 1.18%. The median V 29 Gy change in the rectal wall was -2% (-18% to 20%). With a median follow-up of 9 months, no patient had acute Common Terminology Criteria for Adverse Events (CTCAE) grade 2 or more severe genitourinary (GU) or gastrointestinal (GI) toxicities (0%). Conclusion::UHF-RT to the prostate and the whole pelvis with concomitant boost to positive nodes using an Adapt-To-Shape (ATS) workflow was technically feasible for patients with HR and VHR PCa, presenting only mild GU and GI toxicities. The estimated target dose during the beam-on phase was clinically acceptable based on the 3D-MR–based dosimetry analysis.Clinical trial registration::Chinese Clinical Trial Registry ChiCTR2000033382.
6.Current situation and strategies for improving Traditional Chinese Medicine health education among hemodialysis patients in 7 tertiary TCM hospitals
Chenglong WANG ; Ningning JIN ; Lisong PEI ; Yuan TIAN ; Liwei WANG ; Yi ZHANG ; Qingping LI ; Cuiqing ZHANG ; Caihong WANG ; Yang HAN ; Julan GUO ; Xiangdi LIU
Chinese Journal of Nursing 2024;59(7):796-801
Objective To understand the proficiency level and sources of Traditional Chinese Medicine(TCM)health education among hemodialysis patients,in order to provide the basis for promoting the application of TCM nursing in hemodialysis patients.Methods Utilizing a convenience sampling approach,we conducted a survey from April to May 2023 involving hemodialysis patients from 7 tertiary TCM hospitals across Beijing,Hebei Province,Sichuan Province,and other regions.Custom-made questionnaires were utilized,gathering general information,respons-es conceming the level of mastery on TCM health education,and their primary sources of such knowledge.Results A total of 413 questionnaires were disseminated,and 392 proved valid,yielding a valid response rate of 94.92%.The score of patient's knowledge on TCM health education averaged(8.25±3.73),and an average score rate of 48.53%was obtained.In the patients undergoing hemodialysis,a relatively larger number of people possess knowl-edge of TCM health knowledge about relieving symptoms(50.8%~55.9%)and traditional Chinese daily life routines(56.4%~90.1%).However,fewer people are aware of how to use the five-tone therapy method for emotional inter-vention(40.8%)and principle of taking restorative Traditional Chinese Medicine(24.5%~36.7%),the dietary prin-ciples of"nurturing yang in spring and summer,and nurturing yin in autumn and winter"(14.3%),and theories of TCM kidney functions(9.9%).Approximately 23.0%of the patients sourced their TCM health education knowledge from new media platforms.Compared with new media method alone,patients who utilized only traditional education-al platforms(P=0.020),and those who combined both new media and traditional methods(P=0.018)demonstrated higher proficiency in TCM health education.Conclusion Hemodialysis caregivers are urged to develop a TCM health education framework that emphasizes emotional well-being and traditional wellness concepts,thereby fostering patient-centric TCM health ideologies.Hemodialysis education personnel are encouraged to leverage new media whilst ensuring education quality and effective outcomes.
7.Comparison of Short-term Clinical Outcomes and Patient Satisfaction Between Robotic-assisted and Conventional Total Knee Arthroplasty
Ningning LIU ; Cheng WANG ; Xiao GENG ; Hua TIAN
Chinese Journal of Minimally Invasive Surgery 2024;24(8):545-552
Objective To compare short-term clinical outcomes and patient satisfaction between robotic-assisted total knee arthroplasty(TKA)and conventional TKA.Methods A retrospective analysis was conducted on data of 93 patients who underwent primary unilateral TKA for knee osteoarthritis from June 2022 to April 2023.Among them,46 patients underwent Mako robot-assisted TKA(robot group)and 47 patients underwent traditional manual TKA(traditional group).There was no statistical difference in general data between the two groups(P>0.05).Follow-up data were collected to compare the differences in surgical indicators,postoperative pain,range of motion(ROM),Hospital for Special Surgery(HSS)score,and Forgotten Joint Score(FJS)between the two groups.Results The operation time of the robotic group was longer than that of the traditional group[(105.8±26.7)min vs.(77.0±14.9)min,P<0.001].There were no significant differences in total blood loss,hip-knee-ankle(HKA)angle deviation value and deviation rate(HKA angle>3°)between the two groups at 3 days after surgery(P>0.05).The robotic group had lower Visual Analogue Scale(VAS)scores for pain than the traditional group at 3 days,2 weeks,and 6 months after surgery(P<0.001,P<0.001,P=0.021),and had better knee joint ROM at 3 days,2 weeks,and 3 months after surgery(P<0.001,P=0.011,P<0.001).The HSS score(P=0.001)and FJS score(P<0.001)of the robotic group were better than those of the traditional group at 6 months after surgery.Conclusion Compared with conventional TKA,robot assisted TKA has milder early pain,better mobility,and higher overall postoperative satisfaction.
8.Research progress on the application of light therapy in patients with bipolar depression
Tao LIU ; Xu DAI ; Hebin HUANG ; Ningning CHEN ; Xinhe TIAN ; Wenjing ZHENG ; Weicong LU ; Guiyun XU ; Kwok-Fai SO ; Kangguang LIN
Chinese Journal of Nervous and Mental Diseases 2024;50(4):252-256,封3
Existing antidepressant treatments are generally suboptimal for patients with bipolar disorder(BD).Several studies have explored the efficacy of light therapy(LT)in patients with bipolar depression,along with investigating parameters,devices,and safety aspects of LT.This paper provides a review of these aspects.Numerous meta-analyses and randomized controlled trials have indicated that LT could significantly improve depressive symptoms in BD patients,with both low and high intensity white light having this effect,while the antidepressant effect of blue light remains unclear.LT takes effect rapidly,preferably in the morning,with each session lasting between 30 to 60 minutes,but there is no consensus on the most beneficial LT course for BD patients.The most commonly used device for LT is a lightbox.However further exploration is need regarding the safety of LT glasses.When LT devices that meet safety standards is selected,the overall safety of LT will be high and risk of manic or hypomanic switch will be low for BD patients.In conclusion,LT holds promise for patients with bipolar depression,and further research on LT for BD patients should be conducted to explore LT strategies and develop LT prescriptions.
9.Clinical characteristics and pregnancy outcomes of multifetal pregnancy reduction: a 12-year cohort study
Li LI ; Yanyi LI ; Rui YANG ; Mengjie FAN ; Shuo YANG ; Jia LI ; Ying SONG ; Ningning PAN ; Tian TIAN ; Caihong MA ; Rong LI ; Ping LIU ; Jie QIAO
Chinese Journal of Reproduction and Contraception 2024;44(8):784-790
Objective:To analyze the clinical characteristics, pregnancy outcomes and factors affecting live birth of patients undergoing multifetal pregnancy reduction (MFPR), in order to provide reference for clinical strategies.Methods:A retrospective cohort study was conducted on all patients who underwent multifetal pregnancy reduction among polychorionic multifetal pregnancy patients at the Center for Reproductive Medicine, Department of Obstetrics and Gynecology of Peking University Third Hospital during a period of 12 years from January 1, 2009 to December 31, 2020. The overall and annual clinical characteristics were analyzed, pregnancy outcomes were followed up. Patients were divided into live birth group ( n=1 555) and not live birth group ( n=205), and factors affecting live birth were analyzed by multivariate logistic. Through further subgroup analysis, multiple pregnancies were divided into three subgroups: dichorionic diamniotic twin, triplet pregnancy, and four or more high sequence multiple pregnancy. Results:A total of 1 925 patients who underwent MFPR were included, and 1 760 pregnancy outcomes were followed up. In the past 12 years, there had been an increase in dizygotic twins, and the proportion of transabdominal fetal reduction had significantly increased, from 3% in 2009 to 77% in 2020. The annual live birth rate of reduction patients fluctuated between 83% and 94%. The live birth rate of patients with MFPR was related with the type of multiple pregnancies, the method of reducing pregnancies, and the number of retained embryos. The live birth rate of four or more high sequence multiple pregnancies [75.8% (72/95)] was lower than that of dichorionic diamniotic twins [90.0% (796/884), P<0.001], the dichorionic diamniotic twins [89.9% (241/268), P<0.001], the trichorionic triamniotic triplet pregnancy [86.9% (446/513), P=0.005]. The live birth rate of transabdominal fetal reduction [91.4% (655/717)] was higher than that of transvaginal fetal reduction with fetal cardiac activity area injection of KCl [84.9% (304/358), P=0.001], and vaginal embryo aspiration [87.0% (596/685), P=0.009]. There was no statistically significant difference in the live birth rate between vaginal KCl injection and vaginal aspiration ( P=0.351). The survival rate of patients with retained singletons [89.7% (1 062/1 184)] was higher than that of patients with retained twins [85.6% (493/576), P=0.012]. After adjusting for confounding factors such as age, assisted pregnancy method, type of multiple pregnancies, and number of retained embryos, transabdominal fetal reduction was an independent protective factor for live birth rate ( P=0.040, OR=1.604, 95% CI: 1.021-2.519). Conclusion:With the change of transplantation strategy, the proportion of dichorionic diamniotic twins increased, and the proportion of transabdominal fetal reduction increased, which pregnancy outcomes might be better. There was no difference in pregnancy outcomes between those who underwent vaginal aspiration and transvaginal fetal reduction with fetal cardiac activity area injection of KCl. The outcomes of four or more high sequence multiple pregnancies were poor, and it was necessary to strictly control the number of embryo transfers and optimize ovulation promotion plans in clinical practice.
10.Adaptive ultra-hypofractionated whole-pelvic radiotherapy in high-risk and very high-risk prostate cancer on 1.5-Tesla MR-Linac: Estimated delivered dose and early toxicity results
Linrui GAO ; Ran WEI ; Shirui QIN ; Yuan TIAN ; Wenlong XIA ; Yongwen SONG ; Shulian WANG ; Hui FANG ; Yu TANG ; Hao JING ; Yueping LIU ; Yuan TANG ; Shunan QI ; Bo CHEN ; Yexiong LI ; Nianzeng XING ; Ningning LU
Chronic Diseases and Translational Medicine 2024;10(1):51-61
Background::Magnetic resonance (MR)-guided ultra-hypofractionated radiotherapy with whole-pelvic irradiation (UHF-WPRT) is a novel approach to radiotherapy for patients with high-risk (HR) and very high-risk (VHR) prostate cancer (PCa). However, the inherent complexity of adaptive UHF-WPRT might inevitably result in longer on-couch time. We aimed to estimate the delivered dose, study the feasibility and safety of adaptive UHF-WPRT on a 1.5-Tesla MR-Linac.Methods::Ten patients with clinical stage T3a-4N0-1M0-1c PCa, who consecutively received UHF-WPRT, were enrolled prospectively. The contours of the target and organ-at-risks on the position verification-MR (PV-MR), beam-on 3D-MR(Bn-MR), and post-MR (after radiotherapy delivery) were derived from the pre-MR data by deformable image registration. The physician then manually adjusted them, and dose recalculation was performed accordingly. GraphPad Prism 9 (GraphPad Prism Software Inc.) was utilized for conducting statistical analyses.Results::In total, we collected 188 MR scans (50 pre-MR, 50 PV-MR, 44 Bn-MR, and 44 post-MR scans). With median 59 min, the mean prostate clinical target volume (CTV)-V 100% was 98.59% ± 2.74%, and the mean pelvic CTVp-V 100% relative percentages of all scans was 99.60% ± 1.18%. The median V 29 Gy change in the rectal wall was -2% (-18% to 20%). With a median follow-up of 9 months, no patient had acute Common Terminology Criteria for Adverse Events (CTCAE) grade 2 or more severe genitourinary (GU) or gastrointestinal (GI) toxicities (0%). Conclusion::UHF-RT to the prostate and the whole pelvis with concomitant boost to positive nodes using an Adapt-To-Shape (ATS) workflow was technically feasible for patients with HR and VHR PCa, presenting only mild GU and GI toxicities. The estimated target dose during the beam-on phase was clinically acceptable based on the 3D-MR–based dosimetry analysis.Clinical trial registration::Chinese Clinical Trial Registry ChiCTR2000033382.

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