OBJECTIVES: To explore the efficacy and adverse reactions of nusinersen combined with risdiplam in the treatment of spinal muscular atrophy (SMA). METHODS: A retrospective analysis was conducted on the clinical data of 10 pediatric SMA patients treated with nusinersen combined with risdiplam at the Children's Medical Center of Xiangya Hospital, Central South University. RESULTS: Among the 10 SMA patients, there were 4 with type I, 4 with type II, and 2 with type III. Nine patients initially received nusinersen monotherapy, while 1 patient received nusinersen combined with risdiplam. The median duration of combination therapy with nusinersen and risdiplam for the 10 patients was 10.5 months (range: 0.5-20.0 months), with 6 patients undergoing combination therapy for more than 6 months, showing improvements in motor and/or respiratory function. The remaining 4 patients had combination treatment durations of 0.5, 1.0, 1.3, and 4.0 months, respectively, with no significant overall improvement. After combined treatment, 5 patients experienced skin hyperpigmentation, 2 had lumbar puncture site pain, 1 experienced vomiting, 1 had increased sputum production, and 1 had reduced total sleep time. All adverse reactions were mild and did not require medical intervention. CONCLUSIONS Nusinersen combined with risdiplam demonstrates efficacy in the treatment of SMA, and no significant adverse reactions have been observed.
Humans ; Oligonucleotides/adverse effects* ; Male ; Female ; Child, Preschool ; Retrospective Studies ; Infant ; Muscular Atrophy, Spinal/drug therapy* ; Drug Therapy, Combination ; Child ; Azo Compounds ; Pyrimidines

OBJECTIVE: To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease. METHODS: This prospective cohort study included 318,085 biobank participants from the UK. Physical activity was assessed using the short form of the International Physical Activity Questionnaire. The participants were stratified into low-, intermediate-, and high-genetic-risk groups based on their polygenic risk scores. Multivariate Cox regression models and multiplicative interaction analyses were used. RESULTS: During a median follow-up period of 13 years, 9,209 participants were diagnosed with chronic obstructive pulmonary disease. For low genetic risk, compared to low physical activity, the hazard ratios ( HRs) for moderate and high physical activity were 0.853 (95% confidence interval [ CI]: 0.748-0.972) and 0.831 (95% CI: 0.727-0.950), respectively. For intermediate genetic risk, the HRs were 0.829 (95% CI: 0.758-0.905) and 0.835 (95% CI: 0.764-0.914), respectively. For participants with high genetic risk, the HRs were 0.809 (95% CI: 0.746-0.877) and 0.818 (95% CI: 0.754-0.888), respectively. A significant interaction was observed between genetic risk and physical activity. CONCLUSION Moderate or high levels of physical activity were associated with a lower risk of developing chronic obstructive pulmonary disease across all genetic risk groups, highlighting the need to tailor activity interventions for genetically susceptible individuals.
Humans ; Pulmonary Disease, Chronic Obstructive/epidemiology* ; Exercise ; Male ; Female ; Middle Aged ; Prospective Studies ; Aged ; Genetic Predisposition to Disease ; Risk Factors ; United Kingdom/epidemiology* ; Incidence ; Adult

Bone is a dynamic tissue undergoing continuous regeneration and reconstruction， and its metabolic activities are mainly regulated by bone formation mediated by osteoblasts and bone resorption mediated by osteoclasts. In addition， a variety of cells such as adipocytes， inflammatory cells， endothelial cells， and nerve cells can affect bone metabolism by changing the bone marrow microenvironment. The incidence of bone metabolic diseases caused by bone metabolism disorders is increasing with aging of the population. At present， the clinical treatment of bone metabolic diseases has the disadvantages of long cycle， high cost and many side effects. Therefore， there is an urgent need for safe and effective prevention and treatment drugs. Corylin is an isoflavonoid extracted from Psoraleae Fructus， which has a variety of pharmacological effects such as anti-inflammatory， anti-oxidation， anti-tumor， anti-atherosclerosis， attenuating obesity and improving insulin resistance. Studies have shown that corylin not only exerts osteoprotective effects by promoting osteoblast differentiation and inhibiting osteoclast differentiation， but also plays a positive role in bone metabolism by regulating lipid metabolism， inflammatory response， angiogenesis and anti-aging. The current review overviews the effects and mechanisms of corylin on regulating bone metabolism directly or indirectly， hoping to open up a new perspective for the prevention and treatment of osteoporosis， fracture， osteoarthritis and other related diseases.

Further evidence is needed to explore the impact of high-altitude environments on the neurologic function of neonates.Non-invasive techniques such as cerebral near-infrared spectroscopy and amplitude-integrated electroencephalography can provide data on cerebral oxygenation and brain electrical activity.This study will conduct multiple cerebral near-infrared spectroscopy and amplitude-integrated electroencephalography monitoring sessions at various time points within the first 3 days postpartum for healthy full-term neonates at different altitudes.The obtained data on cerebral oxygenation and brain electrical activity will be compared between different altitudes,and corresponding reference ranges will be established.The study involves 6 participating centers in the Chinese High Altitude Neonatal Medicine Alliance,with altitude gradients divided into 4 categories:800 m,1 900 m,2 400 m,and 3 500 m,with an anticipated sample size of 170 neonates per altitude gradient.This multicenter prospective cohort study aims to provide evidence supporting the impact of high-altitude environments on early brain function and metabolism in neonates.[Chinese Journal of Contemporary Pediatrics,2024,26(4):403-409]

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Blood stasis syndrome is one of the core clinical syndrome of rheumatoid arthritis (RA), but the biological connotation of this syndrome is not clear, and there is a lack of disease improved animal models that match the characteristics of this disease and syndrome. The aim of this study was to screen the candidate biomarker gene set of blood stasis syndrome of RA, reveal the biological connotation of this syndrome, and explore and evaluate the preparation method of the improved animal model based on the characteristics of "disease-syndrome-symptom". The study was approved by the ethics committee of Guang'anmen Hospital, Chinese Academy of Traditional Chinese Medicine (No. 2019-073-KY-01) and the First Affiliated Hospital of Tianjin University of Traditional Chinese Medicine (No. TYLL2021[K]018), and the study subjects gave their informed consent. Animal welfare and experimental procedures followed the regulations of the Experimental Animal Ethics Committee of the Chinese Academy of Traditional Chinese Medicine (No. IBTCMCACMS21-2207-01). The whole blood samples were collected clinically from RA patients with blood stasis syndrome (3 cases) or other syndromes (7 types, 3 cases/type), and healthy volunteers (4 cases), and then transcriptome sequencing, KEGG, gene set enrichment analysis (GSEA) and weighted correlation network analysis (WGCNA) analysis were performed. 126 pivotal genes were screened, and their functional annotation results were significantly enriched in "immune-inflammation" related pathways and lipid metabolism regulation (sphingolipids, ether lipid metabolism and steroid biosynthesis). Syndrome-symptom mapping of hub gene set to the TCM primary and secondary symptoms, Western phenotypic symptoms and pathological links showed that joint tingling, abnormal joint morphology, petechiae and abnormal blood circulation are representative of blood stasis syndrome of RA. The results of the improved animal model showed that the rats in the collagen-induced arthritis + adrenaline hydrochloride (CIA+Adr) 3 model group had increased blood rheology, coagulation, platelet function and endothelial function abnormalities compared with the CIA-alone model group, suggesting that the rats with blood stasis syndrome of RA may be in a state of "blood stasis". The results of the study can help to advance the objective study of the evidence of blood stasis syndrome in RA, and provide new ideas for the establishment of an animal model that reflects the clinical characteristics of the disease and syndrome.

OBJECTIVE: To compare the curative effect between interactive scalp acupuncture and traditional scalp acupuncture on hemiplegic upper extremity motor dysfunction in the patients with ischemic stroke. METHODS: Seventy cases of hemiplegic upper extremity motor dysfunction of ischemic stroke were randomly divided into an interactive scalp acupuncture group (35 cases, 1 case breaked off) and a traditional scalp acupuncture group (35 cases, 1 case dropped off). The patients of the two groups received the secondary prevention medication and routine rehabilitation therapy. Besides, in the interactive scalp acupuncture group, the upper extremity occupational therapy was operated during the needle retaining of scalp acupuncture; and in the traditional scalp acupuncture group, the upper extremity occupational therapy was delivered after the completion of scalp acupuncture. The same points were selected in the two groups such as Fuxiang head area, Fuxiang upper-limb-shoulder point, Fuxiang upper-limb-elbow point and Fuxiang upper-limb-wrist point. The needles were inserted perpendicularly by flying-needle technique and manipulated by triple technique of gentle twisting, heavy pressure and vibrating. The needles were retained for 30 min. Based on the degree of the upper extremity motor impairment, the regimen of the upper extremity occupational therapy was formulated individually and one treatment took 30 min. In the two groups, the therapies were delivered once daily, 5 times a week, lasting 4 weeks. Before and after treatment, the scores of Fugl-Meyer assessment of upper extremity (FMA-UE), Wolf motor function test (WMFT), the modified Barthel index (MBI) and the modified Ashworth scale (MAS) grade in the two groups were observed before and after treatment. RESULTS: After treatment, the scores of FMA-UE, WMFT and MBI were higher than those before treatment (P<0.01), and MAS grade was improved (P<0.05) in the two groups. The scores of FMA-UE, WMFT and MBI in the interactive scalp acupuncture group were higher than those in the traditional scalp acupuncture group (P<0.01, P<0.05), and there was no statistical significance in the difference of MAS grade between the two groups (P>0.05). CONCLUSION The interactive scalp acupuncture can effectively improve the motor function of the hemiplegic upper extremities and the activities of daily living in the patients with ischemic stroke and its efficacy is better than traditional scalp acupuncture. But these two types of scalp acupuncture obtain the similar effect on spasticity.
Humans ; Stroke/therapy* ; Ischemic Stroke/complications* ; Stroke Rehabilitation ; Activities of Daily Living ; Hemiplegia/therapy* ; Scalp ; Treatment Outcome ; Acupuncture Therapy/methods* ; Upper Extremity

OBJECTIVE: To explore clinical effect of high-intensity laser therapy(HILT) combined with targeted hand function training on pain and lateral pinch force in grade 1-2 thumb carpometacarpal(CMC) osteoarthritis(OA). METHODS: From April 2020 and April 2022, 42 female patients with thumb CMC OA grade 1 to 2, aged from 58 to 80 years old with an everage of (68.90±7.58) years old were divided into observation group of 21 patients who received HILT and targeted hand function training for 4 weeks, and 21 patients in control group who received ultrashort wave therapy combined with using of an orthosis for 4 weeks. Visual analogue scale(VAS) was applied to evaluate degree of pain, function of finger was evaluated by dynamometer to measure lateral pinch force at baseline, immediately following intervention at 4 and 12 weeks following intervention. RESULTS: VAS and lateral pinch force at immediately and 12 weeks after intervention betwwen two groups were better than that of before intervention(P<0.05). Compared with control group, the degree of pain in observation group improved more(immediately after intervention t=3.37, P<0.05, 12 weeks after intervention t=9.05, P<0.05), lateral pinch force higher than that of control group (immediately after intervention t=-2.55, P<0.05, 12 weeks after intervention t=9.51, P<0.05). CONCLUSION High-intensity laser therapy combined with targeted hand function training is more effective than traditional methods in improving pain and lateral pinch force in grade 1-2 thumb carpometacarpal osteoarthritis.
Humans ; Female ; Middle Aged ; Aged ; Aged, 80 and over ; Thumb ; Laser Therapy ; Braces ; Osteoarthritis/therapy* ; Pain

To investigate the factors affecting the sperm retrieval rate of microdissection testicular sperm extraction (micro-TESE) in patients with nonmosaic Klinefelter syndrome (KS), 64 patients with nonmosaic KS who underwent micro-TESE in the Center for Reproductive Medicine of Peking University Third Hospital (Beijing, China) between January 2016 and December 2017 were included in the study. Data on medical history, physical examination and laboratory examination results, and micro-TESE outcomes were collected. Patients were divided into two groups according to micro-TESE outcomes. The following factors were compared between the two groups by the Mann‒Whitney U test or Student's t-test based on the distribution (nonnormal or normal) of the factors: age, testicular size, follicle-stimulating hormone level, luteinizing hormone level, testosterone level, and anti-Müllerian hormone level. The overall success rate of sperm retrieval was 50.0%. Correlation analysis showed that testicular volume was positively correlated with testosterone level. Using a logistic regression model, age and anti-Müllerian hormone levels were found to be better predictors for the sperm retrieval rate than the other parameters.
Humans ; Male ; Sperm Retrieval ; Klinefelter Syndrome ; Microdissection ; Anti-Mullerian Hormone ; Semen ; Testis ; Spermatozoa ; Testosterone ; Azoospermia ; Retrospective Studies

OBJECTIVE: In order to solve the problem of inadequate CT screening ability in emergency medical rescue in remote mountainous areas, high-altitude areas, other public health events and sudden natural disasters, a vehicle-mounted mobile CT suitable for emergency medical rescue is studied. METHODS: A vehicle chassis system suitable for long-distance transportation and a cabin system suitable for epidemic prevention and control was designed. A domestic 32-slice CT with small volume, light weight and high stability was selected to design a vehicle-mounted mobile CT suitable for emergency medical rescue. RESULTS: The high-performance vehicle-mounted mobile CT can provide rapid support, and provide large-scale screening, emergency medical rescue, a supplement to daily CT scanning in peacetime and wartime. CONCLUSIONS The vehicle CT has high stability, fast scanning speed and high social and economic value.