OBJECTIVES: To summarize the clinical and genetic characteristics of epilepsy with intellectual disability caused by SETD1B gene variants in children. METHODS: A retrospective analysis was conducted on the clinical data of three children with SETD1B gene variants diagnosed and treated at the Department of Pediatric Neurology of Xiangya Hospital of Central South University. Relevant literature was reviewed to summarize the clinical characteristics of this condition. RESULTS: All three children presented with symptoms during infancy or early childhood, including mild intellectual disability and myoclonic seizures, with two cases exhibiting eyelid myoclonia. After treatment with three or more antiepileptic drugs, two cases achieved seizure control or partial control, while one case remained refractory. Each of the three children was found to have a heterozygous variant in the SETD1B gene (one deletion, one frameshift, and one missense variant). To date, 54 cases with SETD1B gene variants have been reported, involving a total of 56 variants, predominantly missense variants (64%, 36/56). The main clinical manifestations included varying degrees of developmental delay (96%, 52/54) and seizures (81%, 44/54). Among the 44 patients with seizures, myoclonic (20%, 9/44) and absence seizures (34%, 15/44) were common, with eyelid myoclonia reported in six cases. Approximately one-fifth of these patients had poorly controlled seizures. CONCLUSIONS The primary phenotypes associated with SETD1B gene variants are intellectual disability and seizures, and seizures exhibit distinct characteristics. Eyelid myoclonia is not uncommon.
Humans ; Intellectual Disability/complications* ; Epilepsy/complications* ; Male ; Female ; Histone-Lysine N-Methyltransferase/genetics* ; Child, Preschool ; Child ; Retrospective Studies

OBJECTIVE: To evaluate the dynamic changes of glucocorticoid (GC) dose and the feasibility of GC discontinuation in rheumatoid arthritis (RA) patients under the background of Chinese medicine (CM). METHODS: This multicenter retrospective cohort study included 1,196 RA patients enrolled in the China Rheumatoid Arthritis Registry of Patients with Chinese Medicine (CERTAIN) from September 1, 2019 to December 4, 2023, who initiated GC therapy. Participants were divided into the Western medicine (WM) and integrative medicine (IM, combination of CM and WM) groups based on medication regimen. Follow-up was performed at least every 3 months to assess dynamic changes in GC dose. Changes in GC dose were analyzed by generalized estimator equation, the probability of GC discontinuation was assessed using Kaplan-Meier curve, and predictors of GC discontinuation were analyzed by Cox regression. Patients with <12 months of follow-up were excluded for the sensitivity analysis. RESULTS: Among 1,196 patients (85.4% female; median age 56.4 years), 880 (73.6%) received IM. Over a median 12-month follow-up, 34.3% (410 cases) discontinued GC, with significantly higher rates in the IM group (40.8% vs. 16.1% in WM; P<0.05). GC dose declined progressively, with IM patients demonstrating faster reductions (median 3.75 mg vs. 5.00 mg in WM at 12 months; P<0.05). Multivariate Cox analysis identified age <60 years [P<0.001, hazard ratios (HR)=2.142, 95% confidence interval (CI): 1.523-3.012], IM therapy (P=0.001, HR=2.175, 95% CI: 1.369-3.456), baseline GC dose ⩽7.5 mg (P=0.003, HR=1.637, 95% CI: 1.177-2.275), and absence of non-steroidal anti-inflammatory drugs use (P=0.001, HR=2.546, 95% CI: 1.432-4.527) as significant predictors of GC discontinuation. Sensitivity analysis (545 cases) confirmed these findings. CONCLUSIONS RA patients receiving CM face difficulties in following guideline-recommended GC discontinuation protocols. IM can promote GC discontinuation and is a promising strategy to reduce GC dependency in RA management. (Trial registration: ClinicalTrials.gov, No. NCT05219214).
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Arthritis, Rheumatoid/drug therapy* ; Glucocorticoids/therapeutic use* ; Medicine, Chinese Traditional ; Retrospective Studies

Approximately 30%-40% of epilepsy patients do not respond well to adequate anti-seizure medications (ASMs), a condition known as pharmacoresistant epilepsy. The management of pharmacoresistant epilepsy remains an intractable issue in the clinic. Its early prediction is important for prevention and diagnosis. However, it still lacks effective predictors and approaches. Here, a classical model of pharmacoresistant temporal lobe epilepsy (TLE) was established to screen pharmacoresistant and pharmaco-responsive individuals by applying phenytoin to amygdaloid-kindled rats. Ictal electroencephalograms (EEGs) recorded before phenytoin treatment were analyzed. Based on ictal EEGs from pharmacoresistant and pharmaco-responsive rats, a convolutional neural network predictive model was constructed to predict pharmacoresistance, and achieved 78% prediction accuracy. We further found the ictal EEGs from pharmacoresistant rats have a lower gamma-band power, which was verified in seizure EEGs from pharmacoresistant TLE patients. Prospectively, therapies targeting the subiculum in those predicted as "pharmacoresistant" individual rats significantly reduced the subsequent occurrence of pharmacoresistance. These results demonstrate a new methodology to predict whether TLE individuals become resistant to ASMs in a classic pharmacoresistant TLE model. This may be of translational importance for the precise management of pharmacoresistant TLE.
Epilepsy, Temporal Lobe/diagnosis* ; Animals ; Drug Resistant Epilepsy/drug therapy* ; Electroencephalography/methods* ; Rats ; Anticonvulsants/pharmacology* ; Neural Networks, Computer ; Male ; Humans ; Phenytoin/pharmacology* ; Adult ; Disease Models, Animal ; Female ; Rats, Sprague-Dawley ; Young Adult ; Convolutional Neural Networks

Objective:To explore the clinical application of Hisense Computer-Assisted Sur-gery System(CAS)in the perioperative period of hepatectomy for liver cancer.Methods:Clinical data of patients undergoing laparoscopic hepatectomy(LH)for liver cancer from January 2021 to December 2022 were collected.Patients were divided into three groups based on surgical difficulty(low,medium,high)and further stratified into CAS-assisted subgroup and control subgroup ac-cording to whether the CAS system was used.Demographic and perioperative data were com-pared among different groups.Results:A total of 317 patients'clinical data were collected,in-cluding 31 cases in the low difficulty group,132 cases in th medium difficulty group,and 154 cases in the high difficulty group,with 108 cases(34.1％)in the CAS-assisted subgroup and 209 cases(65.9％)in the control group.In the medium difficulty group,the CAS-assisted subgroup had shorter operation time,drainage tube duration,and postoperative hospital stay compared to the control group(P＜0.001),and the AFP levels at 1 month postoperatively in the CAS-assisted sub-group were lower than those in the control group(P＜0.001).In the high difficulty group,the CAS-assisted subgroup showed shorter operation time,drainage tube duration,and postoperative hospi-tal stay,less intraoperative blood loss,and lower AFP levels 1 month post-operation compared to the control group(P＜0.001 for all).Conclusion:Preoperative CAS in medium and high difficulty laparoscopic liver resections improves perioperative outcomes.Hisense CAS effectively assists general surgeons in accurately identifying the anatomical site of liver tumors,providing precise pre-operative simulation and intraoperative navigation,thereby optimizing surgical strategies for pa-tients.

Objective To analyze the acupoint selection rules of acupuncture for the treatment of tic disorders in children based on data mining techniques.Methods A computerized search was conducted for the clinical research literature on acupuncture treatment of tic disorders in children included in the CNKI,Wanfang,VIP,SinoMed,and PubMed databases from January 1992 to December 2022.A database was established by Excel 2019 to count the commonly used treatment methods and analyze the high-frequency application methods acupuncture(high-frequency acupoints,channel entry of acupoints,acupoint association rules,and acupoint clustering),auricular point seed-pressing(high-frequency auricular points,and acupoint association rules),and the high frequency division of cluster needling of scalp point.Results A total of 190 valid literature articles were included,involving 270 acupuncture prescriptions;among them,184 acupoints were counted in the acupuncture method,with a total application frequency of 1 906 times,and the high-frequency application of the acupoints in descending order were Baihui(DU20),Taichong(LR3),Fengchi(GB20),Hegu(LI4),Sanyinjiao(SP6),Neiguan(PC6),Shenmen(HT7),Zusanli(ST36),Yintang(EX-HN3),Sishencong(EX-HN1);and the high-frequency meridians were governor vessol,foot taiyang stomach meridian,foot taiyang stomach meridian,foot shaoyang gallbladder meridian,hand taiyang large intestine meridian,foot taiyang bladder meridian,foot jueyin gallbladder meridian;three sets of strong association rules and five clusters of acupoints were analyzed by SPSS modeler 18.0 and IBM SPSS Statistics 26.0 software.There were 29 acupoints of auricular point seed-pressing,application total frequency was 206 times,high-frequency application of auricular points in descending order of Shenmen(HT7),liver,heart,subcortex,kidney;four groups of acupoint strong association rules were obtained through the analysis of SPSS modeler 18.0 software.A total of 14 zones were involved in the application of cephalic acupoint plexus zoning,of which the high-frequency zones were parietal anterior temporal diagonal,parietal parietal 1,and chorea tremor control zone.Conclusion Acupuncture treatment of tic disorders in children,according to its pathogenesis(liver hyperactivity,kidney depletion,spleen deficiency,phlegm disturbance,etc.)and tic site,select acupoints compatibility,and mostly choose yang meridian acupoints,which is related to the nature and treatment characteristics of wind pathogen.Children's tic disorders are closely related to emotional disorders,therefore acupuncture and auricular acupoints all emphasize the method of soothing the liver and clearing the heart,and regulating the emotional state.Cluster needling of scalp point mostly used parietal temporal anterior oblique line,parietal 1 line,and dance tremor control area for the treatment of tic disorders.For children,auricular point seed-pressing and cluster needling of scalp point has the minimun of pain,the effect of treatment is long,and it is not easy to have dangerous situations such as bent needle,broken needle and so on.

Dual-tracer PET imaging can provide more comprehensive clinical information for disease diagnosis. How to achieve dual-tracer imaging through single imaging session is one of the hot topics in the field of nuclear medicine. The key issues in achieving dual-tracer imaging with a single scan is the accurate separation of single-tracer information from the mixed tracer signal. In the last two decades, separation methods for different tracers have been proposed, and the injection interval between two tracers was reduced. This paper summarizes recent dual-tracer separation methods. The basic principles, features and advantages of separation methods are analyzed. Besides, the outlook on the future development of dual-tracer separation is also discussed in the present review.

Objective To evaluate the short-term clinical effect of arthroscopic repair of rotator cuff injury with all-suture anchor using a prospective and single-cohort clinical trial.Methods Twenty-five patients with rotator cuff injuries(1.5 cm0.05).Conclusion Arthroscopic rotator cuff repair with all-suture anchor is feasible and safe,and has good short-term clinical effect.

Wearable spectral sensors are integrated smart devices consisting of flexible substrates,sensing and detection units,and analysis units.These sensors can track chemicals in human fluids including sweat,transdermal gases,wound secretions,subcutaneous mesenchymal fluids,tears,exhaled gases,and saliva quickly and non-invasively.Their application is crucial in drug analysis,disease diagnosis,and health monitoring.This paper summarized the literature studies of wearable colorimetric,fluorescence and surface-enhanced Raman scattering sensors since 2016,and reviewed the advancements in wearable spectroscopic sensors,focusing on their composition and applications in epidermal,ocular,and oral forms.Additionally,the future challenges and opportunities of wearable spectroscopic sensors were discussed,providing a reference for the design and development of wearable spectroscopic sensors.

It is found that acupuncture can significantly improve the clinical symptoms of rheumatoid arthritis (RA) such as pain and joint stiffness, and improve rheumatoid factor, high-sensitivity CRP, ESR and other clinical indicators. It can inhibit the proliferation of synovial cells, the apoptosis of chondrocytes, and regulate polarization balabce of mononuclear macrophages, T cells, as well as inhibit the inflammatory function of multiple immune cells, in order to improve inflammation state of RA joints. In clinical treatment of RA, bladder meridian, stomach meridian, spleen meridian , and Governor Vessel are mostly selected. Acupoints with the efficacy of warming meridian, dispelling coldness and dredging collaterals were commonly selected such as Zusanli (ST36), Yanglinquan (GB34), Dazhui (GV14), Quchi (LI11). Several researches have proved that combined therapy of acupuncture and medicine is worthy promotion in clinic.

Genicular nerve block is usually used for the treatment of chronic pain of knee osteoar-thritis,which can effectively relieve knee pain and preservemotor function.With the rapid development of ultrasound technology,ultrasound-guided genicular nerve block can improve the accuracy of nerve block and reduce block-related complications.This article reviews the research progress of ultrasound-guided genicular nerve block in three aspects:anatomy,operation methods and clinical application.