Objective:To evaluate the clinical features of dystonia in patients with different types of atypical Parkinson syndrome (APS).Methods:A total of 104 patients with APS admitted in the Department of Neurology, Beijing Hospital from January 2015 to June 2023 were enrolled in the study, including 57 cases of multiple system atrophy (MSA), 38 cases of progressive supranuclear palsy (PSP) and 9 cases of corticobasal degeneration (CBD). Among 104 cases there were 63 males (60.6%), the mean age of patients was (62.3±8.9) years (54 to 73 years). The sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopa therapy, numbers of Hoehn & Yahr scale≥3 after 3 years of disease, and MRI findings were documented in patients with different type APS.Results:The overall frequency of dystonia in this series was 45.2%(47/104), and 33.3% (19/57) for MSA group, 50.0% (19/38) for PSP group, 9/9 for CBD group. The types of dystonia were anterocollis, retrocollis, blepharospasm, oromandibular, foot/limb dystonia, Pisa syndrome and myoclonus. In all 47 cases presenting dydtonia, dystonia was not the first complaint and it did not respond to levodopa therapy.Conclusion:In this series of atypical Parkinson syndrome, dystonia is a common feature of the disease, while it is not the first symptom at disease onset, and usually does not respond to levodopa therapy.

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 association between serum klotho level and risk of all-cause mortality in the population with diabetic kidney disease (DKD).Methods:It was a retrospective cohort study. DKD patients from the National Health and Nutrition Examination Survey (NHANES) database in the United States, which covered five survey cycles from 2007 to 2016 were selected. Relevant demographic and laboratory examination data were collected, and all-cause mortality was regarded as the endpoint event. Patients were divided into high serum klotho group and low serum klotho group according to the optimal klotho threshold of predicting survival outcomes, and the differences of baseline characteristics between the two groups were compared. The weighted Kaplan-Meier method was used to draw the survival curves of the high and low serum klotho groups during the follow-up period. Log-rank test was used to compare the survival rates between the two groups. Weighted Cox proportional hazards regression analysis and further stratified analysis were used to estimate the correlation between serum klotho level and the risk of all-cause mortality.Results:A total of 633 DKD patients were included in this study, with age of 65 (56, 72) years, and 323 (51.03%) males. Among them, there were 510 patients in the high klotho level (>556.6 ng/L) group, and 123 patients in the low klotho level (≤556.6 ng/L) group. The serum creatinine level in the high klotho level group was significantly lower than that in the low klotho level group ( Z=-2.650, P=0.010), while the estimated glomerular filtration rate (eGFR, Z=2.489, P=0.015) and fasting blood glucose ( Z=2.275, P=0.026) were significantly higher than those in the low klotho level group. There was no statistically significant difference between the two groups in terms of age, gender distribution, racial distribution, proportion of smoking, body mass index, proportion of hypertension, total cholesterol, triglyceride, and urine albumin/creatinine ratio (all P>0.05). The follow-up time was 81 (49, 116) months, and a total of 204 (32.23%) all-cause death events occurred. Kaplan-Meier survival analysis showed that the survival rate of the high klotho level group was significantly higher than that of the low klotho level group (Log-rank test, χ2=4.21, P=0.040). Cox proportional hazards regression analysis showed that, after adjusting for gender, age, race, smoking, body mass index, hypertension, blood glucose, triglyceride, total cholesterol and eGFR, the risk of all-cause death in the low klotho level group was 1.63 times than that in the high klotho level group ( HR=1.63, 95% CI 1.03-2.63). Further stratified analysis showed that there was no interaction effect of age, gender, race and eGFR on the impact between low serum klotho level and the risk of all-cause death (all P>0.05), indicating that the correlation between low serum klotho level and the risk of all-cause death was consistent when DKD individuals were divided into different subgroups. Conclusions:Low serum klotho level are significantly associated with increased risk of all-cause mortality in the DKD population. Maintaining an adequate serum klotho level may reduce the risk of death in DKD patients.

Objective:To validate the usefulness of copy number variation sequencing (CNV-seq) in detecting the deletion/duplication of the DMD gene in Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients. Methods:One hundred and seventy-seven cases who visited the Department of Medical Genetics, Affiliated Hospital of Kunming University of Science and Technology/the First People′s Hospital of Yunnan Province from April 2018 to November 2023 were collected. All patients had previously accepted multiplex ligation-dependent probe amplification (MLPA) to detect the deletion/duplication of the DMD gene, including 90 cases of normal control with a negative result of MLPA and 87 cases with the deletion or duplication of the DMD gene (61 cases of DMD and 26 cases of BMD). CNV-seq was performed in a single-blind manner to detect DMD gene deletion or duplication for all of 177 cases to obtain the detection efficiency of CNV-seq in comparison with MLPA. Results:Comparing to MLPA, CNV-seq had a coincidence rate of 88.7% (157/177) for detecting DMD gene deletion/duplication, with a sensitivity of 77.0% (67/87), a specificity and a positive predictive value of both 100.0% (90/90 and 67/67, respectively), a negative predictive value of 81.8% (90/110), and a Kappa value of 0.773. Of the 87 patients with the deletion or duplication of the DMD gene, CNV-seq detected 67 cases with DMD gene deletion/duplication, including 62 cases with deletion and 5 cases with duplication, with fragment ranging from 150 to 750 kb. While CNV-seq missed 23.0% (20/87) of positive cases, mainly due to the involved fragments spanning only 1 to 4 exons, and with a variation size less than 50 kb, below the resolution (100 kb) of CNV-seq. The detection rate of CNV-seq in BMD cases (84.6%, 22/26) was a little higher than that in DMD cases (73.8%, 45/61), but there was no significant difference between 2 subgroups ( χ2=1.211, P=0.271). The results of CNV-seq in normal controls were all negative, and consistent with the results of MLPA. Conclusion:CNV-seq can detect 77.0% (67/87) of deletion/duplication of the DMD gene in patients with DMD/BMD, while the deletion/duplication less than 100 kb may be inevitably unidentified, therefore it is recommended as an assistant screening technique in prenatal diagnosis for DMD gene deletion or duplication.

Objective To construct a nursing follow-up checklist for patients undergoing autologous hematopoietic stem cell transplantation,providing a basis for postoperative follow-up care.Methods Using evidence-based methods,the literature from major guide websites and databases using Chinese and English search terms was retrieved,and their quality was evaluated.The relevant items were extracted,and a first draft was formed.15 experts were selected in relevant fields from 14 tertiary hospitals in 13 provinces,cities,and autonomous regions across the country for Delphi inquiry.The nursing follow-up checklist was revised again based on expert opinions and clinical practice.The nursing follow-up checklist was initially applied and then revised again to form the final draft.Results 15 experts include 12 undergraduate and 3 master's degree holders.The positivity coefficients of the 2 rounds of inquiry were 100％;the authority coefficients of the experts were 0.815;the Kendall coefficients were 0.119 and 0.144,respectively;the differences were statistically significant(P＜0.001).The final nursing follow-up checklist was formed,which includes 6 primary indicators,including physiological status,psychological status,social and family support,living conditions,disease knowledge,and laboratory tests.19 patients(95％)found the follow-up content to be comprehensive.The follow-up nurses's satisfaction rate exceeded 85％.There were 27 secondary indicators and 61 tertiary indicators,with coefficients of variation of all indicators less than 0.25.Conclusion The nursing follow-up checklist is scientific,reliable,and practical,which can provide a basis for clinical nursing staff to follow up and comprehensively manage patients after autologous hematopoietic stem cell transplantation.

Objective:To assess the efficacy and safety profile of antaitasvir phosphate combined with yiqibuvir in the treatment of chronic hepatitis C (CHC) of various genotypes, without cirrhosis or with compensated cirrhosis.Methods:394 cases with CHC from 22 centers were collected from October 2021 to April 2023. They were randomly assigned to receive either the experimental drugs (antaitasvir phosphate 100 mg+yiqibuvir 600 mg) or placebo treatment in a 3∶1 ratio. The patients were administered drugs once a day for 12 consecutive weeks, and then followed up for 24 weeks after treatment cessation. All subjects were unblinded at the four-week follow-up following drug discontinuation, with the experimental drug group continuing to complete subsequent post-discontinuation follow-up. The placebo group was switched to receive the experimental drugs for a repeated 12-week treatment period and followed up for another 24 weeks after discontinuation of the drug (placebo delayed treatment phase).The sustained virologic response rate (SVR12) was observed for subjects in the double-blind phase and the placebo delayed-treatment phase at 12 weeks after treatment cessation.Virological resistance analysis was performed on subjects who failed treatment. The primary efficacy endpoint was SVR12. The number and percentage of subjects who achieved "HCV RNA

This case report describes the diagnostic and therapeutic management of a 67-year-old fe-male with a 40-year history of Sj?gren disease(SjD)who was hospitalized for evaluation of recurrent fever lasting over one month.The patient's initial diagnosis of SjD was established four decades earlier based on clinical manifestations,serological findings,and evidence of glandular damage.Her clinical presenta-tion included recurrent parotid gland enlargement accompanied by sicca symptoms,notably persistent xerostomia and xerophthalmia,followed by progressive dental caries.Serological studies demonstrated positivity for antinuclear antibodies,anti-SSA/Ro,and anti-α-fodrin antibodies.Objective assessments confirmed significant ocular involvement(Schirmer's test≤5 mm/5 min)and pulmonary interstitial changes on chest CT,consistent with the 2016 American College of Rheumatology and European League Against Rheumatism(ACR/EULAR)classification criteria for SjD.The patient's condition remained sta-ble under low-dose corticosteroids and disease-modifying anti-rheumatic drugs(DMARDs)until the re-cent onset of prolonged fever,necessitating evaluation for fever of unknown origin.Differential diagnoses considered disease flare,infection,and malignancy.The European Sj?gren's Syndrome Disease Activity Index(ESSDAI)score was 5 points,indicating moderate systemic disease activity.Initial laboratory in-vestigations revealed no evidence of infection,and empirical anti-infective therapy proved ineffective.No-tably,despite the absence of lymphadenopathy,laboratory findings including borderline positive IgM λ M-protein,elevated lactate dehydrogenase,hyperferritinemia,and increased β2-microglobulin levels raised suspicion for lymphoproliferative disorders,given the established association between SjD and lymphoma.Bone marrow aspiration showed no significant abnormalities,but PET/CT imaging detected hypermetabolic lesions in the left breast and right distal femur,suggesting potential malignancy.Subse-quent histopathological examination of the breast lesion confirmed non-Hodgkin's lymphoma(NHL),specifically diffuse large B-cell lymphoma(DLBCL)of the germinal center B-cell(GCB)subtype.Treatment with R-CHOP chemotherapy(rituximab,cyclophosphamide,doxorubicin,vincristine,and prednisone)induced complete metabolic remission after three cycles.However,she subsequently developed treatment-related complications,including myelosuppression and pulmonary infection.This case underscores the importance of maintaining a high index of suspicion for atypical site involvement in SjD patients,particularly when lymphoma risk factors are present.Comprehensive differential diagnosis should include lymphoma and other malignancies,and the diagnostic value of PET/CT and histopatholog-ical examination in disease evaluation is emphasized.SjD complicated by breast lymphoma is exceptional-ly rare,and its pathogenesis may involve lymphocytic infiltration,abnormal activation of lymphocytes,formation of ectopic germinal centers in the breast,and eventual malignant transformation.These mecha-nisms require further investigation through clinical and basic research studies.

Objective To construct large medical model named by "Huaxi HongYi"and explore its application effectiveness in assisting medical record generation. Methods By the way of a full-chain medical large model construction paradigm of "data annotation - model training - scenario incubation", through strategies such as multimodal data fusion, domain adaptation training, and localization of hardware adaptation, "Huaxi HongYi" with 72 billion parameters was constructed. Combined with technologies such as speech recognition, knowledge graphs, and reinforcement learning, an application system for assisting in the generation of medical records was developed. Results Taking the assisted generation of discharge records as an example, in the pilot department, after using the application system, the average completion times of writing a medical records shortened (21 min vs. 5 min) with efficiency increased by 3.2 time, the accuracy rate of the model output reached 92.4%. Conclusion It is feasible for medical institutions to build independently controllable medical large models and incubate various applications based on these models, providing a reference pathway for artificial intelligence development in similar institutions.