OBJECTIVE: To explore a predictive model that can better predict the prognosis of patients with diffuse large B-cell lymphoma (DLBCL), and validate its clinical value. METHODS: Clinical data of 134 newly treated DLBCL patients were collected from Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 2015 to January 2020. Several risk factors of the patients were screened and analyzed, a novel prognostic model were then established based on this, and its clinical application potential was validated. RESULTS: In the novel model, predicting progression-free survival (PFS) based on the age at initial treatment, albumin level, Hans classification, Ann Arbor stage, and BCL2 expression showed better predictive performance than International Prognostic Index (IPI) score (AUC: 0.788 vs 0.620，P <0.001). Predicting overall survival (OS) based on the age at initial treatment, albumin level, lactate dehydrogenase (LDH) level, and expressions of BCL2 and MUM1 proteins also showed better predictive performance for mortality risk than IPI score (AUC: 0.817 vs 0.624，P <0.001). CONCLUSION This novel prognostic model can better predict the survival prognosis of DLBCL patients compared to the IPI scoring system.
Humans ; Lymphoma, Large B-Cell, Diffuse/diagnosis* ; Prognosis ; Proto-Oncogene Proteins c-bcl-2/metabolism* ; Risk Factors ; Male ; Female ; Middle Aged

This study reports a pair of sisters with generalized dystonia and 3-methylglutaconic aciduria，including clinical phenotype analysis and genetic testing. Through medical history collection，imaging and laboratory examinations，and genetic analysis，it was found that the two patients had a homozygous mutation，c.1687T>C，in the Serac1 gene on chromosome 6，which was located at exon 16. The Serac1 gene mutation with adolescent-onset generalized dystonia as the main clinical phenotype has not been reported in the literature before. This study finds for the first time that Serac1 mutation at this site can cause generalized dystonia，which can provide a reference for the diagnosis and treatment of similar cases in the future.

This study aimed to comprehensively examine the association of gallstones, cholecystectomy, and cancer risk. Multivariable logistic regressions were performed to estimate the observational associations of gallstones and cholecystectomy with cancer risk, using data from a nationwide cohort involving 239 799 participants. General and gender-specific two-sample Mendelian randomization (MR) analysis was further conducted to assess the causalities of the observed associations. Observationally, a history of gallstones without cholecystectomy was associated with a high risk of stomach cancer (adjusted odds ratio (aOR)=2.54, 95% confidence interval (CI) 1.50-4.28), liver and bile duct cancer (aOR=2.46, 95% CI 1.17-5.16), kidney cancer (aOR=2.04, 95% CI 1.05-3.94), and bladder cancer (aOR=2.23, 95% CI 1.01-5.13) in the general population, as well as cervical cancer (aOR=1.69, 95% CI 1.12-2.56) in women. Moreover, cholecystectomy was associated with high odds of stomach cancer (aOR=2.41, 95% CI 1.29-4.49), colorectal cancer (aOR=1.83, 95% CI 1.18-2.85), and cancer of liver and bile duct (aOR=2.58, 95% CI 1.11-6.02). MR analysis only supported the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer. This study added evidence to the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer, highlighting the importance of cancer screening in individuals with gallstones.
Humans ; Mendelian Randomization Analysis ; Gallstones/complications* ; Female ; Male ; Cholecystectomy/statistics & numerical data* ; Middle Aged ; Risk Factors ; Aged ; Adult ; Neoplasms/etiology* ; Stomach Neoplasms/epidemiology*

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To investigate the long-term outcome of deep brain stimulation (DBS) in patients with KMT2B gene-related dystonia. Methods:Seven patients with KMT2B gene-related dystonia who were treated at Peking Union Medical College Hospital from April 2018 to December 2020 were enrolled. Whole-exome sequencing was used to detect genetic variations, and clinical phenotypes were summarized. All patients underwent DBS surgery and were followed up at 6 months, 3 years, and 5 years post-surgery. The therapeutic effects of DBS were evaluated by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), including BFMDRS Motor Subscale (BFMDRS-M) and Disability Subscale (BFMDRS-D). Results:The preoperative BFMDRS-M and BFMDRS-D scores were 60.43±27.12 and 17.00±6.24, respectively. The most significant improvements were observed at 6 months post-surgery, with the BFMDRS-M and BFMDRS-D scores being 20.64±5.50 and 9.57±1.72, reflecting improvements of 65.8% and 43.7%, respectively, both with statistically significant differences ( t=4.342, P=0.005; t=2.828, P=0.030). At 3 years post-surgery, the BFMDRS-M and BFMDRS-D scores were 26.20±8.68 and 10.50±2.74, representing improvements of 56.7% ( t=3.045, P=0.029) and 38.2% ( t=2.012, P=0.100), respectively. At 5 years post-surgery, the BFMDRS-M and BFMDRS-D scores were 27.80±14.87 and 11.00±2.83, with improvements of 54.0% ( t=1.824, P=0.142) and 35.3% ( t=1.933, P=0.125), respectively. At the 5-year postoperative follow-up, the patients′ cervical dystonia improved by 78.9%, while the upper limbs, lower limbs, and trunk dystonia improved by 57.8%, 56.6%, and 58.0%, respectively. However, only 1 patient showed significant improvement in the language function. Conclusions:DBS showed good therapeutic effects on KMT2B gene-related dystonia, but the efficacy declined over time. Significant improvements were observed in patients′ cervical, limb and trunk dystonia, but the improvement in language function was not significant.

Objective:To investigate the efficacy of botulinum toxin type A (BTX-A) injections in treating motor tics in adult patients with tic disorders.Methods:A retrospective analysis was conducted on the baseline and clinical data of 25 adult tic disorder patients who received BTX-A treatment at the Movement Disorders Clinic of the Department of Neurology, Peking Union Medical College Hospital, from January 2019 to July 2023. Before the treatment, the Yale Global Tic Severity Scale (YGTSS) was used to assess the severity of motor and vocal tics. The injection sites and dosage of BTX-A were determined based on the distribution and severity of tic symptoms. Post-treatment improvement was evaluated via telephone follow-up.Results:Among the 25 patients, 18 were male and 7 were female, with an age of 27.0 (23.5, 31.0) years and a disease duration of 10.0 (5.5, 18.5) years. The pre-treatment YGTSS score was 41.3±12.3. After treatment, the time to onset of effect was 2.0 (1.0, 5.0) days, the peak efficacy was achieved at (15.5±9.4) days, and the duration of efficacy was 4.0 (2.5, 6.0) months. Post-treatment YGTSS score decreased to 14.7±11.3, with an improvement rate of 63.7%±24.9%. Significant efficacy was observed in 68.0% (17/25) of patients, 28% (7/25) showed moderate improvement, and 4% (1/25) had no response. Anxiety symptoms were alleviated in 91% (21/24) of patients, and premonitory urges were reduced in 90% (18/20) of patients. Retreatment in 13 patients with symptom recurrence remained effective. Adverse effects included facial stiffness in 4 patients, scalp tightness in 1, and mild neck muscle weakness in 5, all of which resolved spontaneously within 3-14 days; 16 patients reported no adverse effects.Conclusion:BTX-A is safe and effective in controlling motor tics in adult patients with tic disorders.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To investigate the long-term outcome of deep brain stimulation (DBS) in patients with KMT2B gene-related dystonia. Methods:Seven patients with KMT2B gene-related dystonia who were treated at Peking Union Medical College Hospital from April 2018 to December 2020 were enrolled. Whole-exome sequencing was used to detect genetic variations, and clinical phenotypes were summarized. All patients underwent DBS surgery and were followed up at 6 months, 3 years, and 5 years post-surgery. The therapeutic effects of DBS were evaluated by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), including BFMDRS Motor Subscale (BFMDRS-M) and Disability Subscale (BFMDRS-D). Results:The preoperative BFMDRS-M and BFMDRS-D scores were 60.43±27.12 and 17.00±6.24, respectively. The most significant improvements were observed at 6 months post-surgery, with the BFMDRS-M and BFMDRS-D scores being 20.64±5.50 and 9.57±1.72, reflecting improvements of 65.8% and 43.7%, respectively, both with statistically significant differences ( t=4.342, P=0.005; t=2.828, P=0.030). At 3 years post-surgery, the BFMDRS-M and BFMDRS-D scores were 26.20±8.68 and 10.50±2.74, representing improvements of 56.7% ( t=3.045, P=0.029) and 38.2% ( t=2.012, P=0.100), respectively. At 5 years post-surgery, the BFMDRS-M and BFMDRS-D scores were 27.80±14.87 and 11.00±2.83, with improvements of 54.0% ( t=1.824, P=0.142) and 35.3% ( t=1.933, P=0.125), respectively. At the 5-year postoperative follow-up, the patients′ cervical dystonia improved by 78.9%, while the upper limbs, lower limbs, and trunk dystonia improved by 57.8%, 56.6%, and 58.0%, respectively. However, only 1 patient showed significant improvement in the language function. Conclusions:DBS showed good therapeutic effects on KMT2B gene-related dystonia, but the efficacy declined over time. Significant improvements were observed in patients′ cervical, limb and trunk dystonia, but the improvement in language function was not significant.

Objective:To investigate the efficacy of botulinum toxin type A (BTX-A) injections in treating motor tics in adult patients with tic disorders.Methods:A retrospective analysis was conducted on the baseline and clinical data of 25 adult tic disorder patients who received BTX-A treatment at the Movement Disorders Clinic of the Department of Neurology, Peking Union Medical College Hospital, from January 2019 to July 2023. Before the treatment, the Yale Global Tic Severity Scale (YGTSS) was used to assess the severity of motor and vocal tics. The injection sites and dosage of BTX-A were determined based on the distribution and severity of tic symptoms. Post-treatment improvement was evaluated via telephone follow-up.Results:Among the 25 patients, 18 were male and 7 were female, with an age of 27.0 (23.5, 31.0) years and a disease duration of 10.0 (5.5, 18.5) years. The pre-treatment YGTSS score was 41.3±12.3. After treatment, the time to onset of effect was 2.0 (1.0, 5.0) days, the peak efficacy was achieved at (15.5±9.4) days, and the duration of efficacy was 4.0 (2.5, 6.0) months. Post-treatment YGTSS score decreased to 14.7±11.3, with an improvement rate of 63.7%±24.9%. Significant efficacy was observed in 68.0% (17/25) of patients, 28% (7/25) showed moderate improvement, and 4% (1/25) had no response. Anxiety symptoms were alleviated in 91% (21/24) of patients, and premonitory urges were reduced in 90% (18/20) of patients. Retreatment in 13 patients with symptom recurrence remained effective. Adverse effects included facial stiffness in 4 patients, scalp tightness in 1, and mild neck muscle weakness in 5, all of which resolved spontaneously within 3-14 days; 16 patients reported no adverse effects.Conclusion:BTX-A is safe and effective in controlling motor tics in adult patients with tic disorders.

Peripherally-induced movement disorders (PIMD) are a group of involuntary movements that emerge after an injury to a body part outside the central nervous system. The phenomenology of PIMD encompasses both hyperkinesia and hypokinesia involving multiple parts of the body. The diagnosis of this disease mainly relies on the temporal and spatial relationship between peripheral injuries and movement disorders. The etiology, pathogenesis and treatment of PIMD have been a matter of debate. This article will review the clinical features, classification, diagnosis, treatment and possible pathogenesis of PIMD, and discuss the limitations and controversies of PIMD-related researches, aiming to advance the understanding of PIMD and avoid clinical misdiagnosis.