OBJECTIVE: To investigate the clinical characteristics and genetic etiology of a child with Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) and epilepsy due to a TUBG1 gene variant. METHODS: A child diagnosed with CDCBM4 and epilepsy at the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in May 2024 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral venous blood samples were collected from the child and her parents for genomic DNA extraction. Trio-based whole-exome sequencing (WES) was performed, and candidate variants were validated by Sanger sequencing. According to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG), candidate variants were classified for pathogenicity. This study was approved by the Medical Ethics Committee of the Affiliated Hospital of Guangdong Medical University (Ethics No.: PJ2021-097). RESULTS: The child, a 4-month-old female infant, had no special facial features, normal limb muscle strength, and increased muscle tone of infantile onset, with generalized tonic-clonic seizures as the main manifestation. During seizures, she exhibited head retroflexion, tightly closed eyes, and tonic convulsions of the limbs, occurring approximately 2-3 times per day. Electroencephalogram suggested bilateral anterior predominant medium-to-high amplitude 7-8 Hz mixed rhythm discharges. Head MRI revealed ventricular system dilatation and pachygyria. Trio-WES results indicated that the child has harbored a TUBG1 gene variant of c.776C>T (p.Ser259Leu). Sanger sequencing verification showed that neither of her parents had carried the same variant, confirming it as de novo in origin. According to the ACMG guidelines, the variant was rated as pathogenic (PS2+PS3+PM2_Supporting+PP3). Combining the child's clinical phenotype, the child was diagnosed as CDCBM4 with epilepsy. CONCLUSION Children with CDCBM4 and epilepsy due to TUBG1 gene variants may show pachygyria or agyria and commonly present with intellectual and motor developmental delays and seizure disorders of variable severity. The heterozygous TUBG1 c.776C>T (p.Ser259Leu) variant is likely the genetic etiology underlying this disorder. The results of this study has expanded the mutational spectrum of the TUBG1 gene associated with CDCBM4 and epilepsy.
Humans ; Female ; Epilepsy/genetics* ; Malformations of Cortical Development/genetics* ; Infant ; Phenotype ; Exome Sequencing ; Microtubule-Associated Proteins/genetics*

Objective To investigate the unmet needs for assistive technology for people with physical disabilities in Chengdu,and analyze the related factors. Methods From November,2023 to March,2024,the persons with physical disabilities in Chengdu were selected from Sichuan Individuation service platform,and investigated using World Health Organization rapid Assistive Tech-nology Assessment. Results A total of 558 questionnaires were set up,and 527 effective questionnaires retured.26.8%of them reported un-met needs for aids,with the highest need for mobility aids(66.0%).Lack of support(54.9%),high price(26.3%)and lack of knowledge about aids(20.3%)were the main reasons for not obtaining the aids they needed.Loss of spouse(OR=3.615),serious mobility impairment(OR＞2.926)and serious self-care impairment(OR＞2.781)were the risks of unmet needs for aids. Conclusion It is important to popularize policies and products of aids,pay attention to personal adaptation for people with different barriers,and strengthen the service system,to meet the needs of people with disabilities.

ObjectiveTo analyze the current situation and frontier trends of the research on intelligent rehabilitation in China. MethodsLiteratures with the theme of intelligent rehabilitation were retrieved from CNKI, Wanfang database and VIP database from 2014 to 2024, and visual analysis was carried out using CiteSpace 6.2.R4. ResultsA total of 1 861 Chinese literatures were included. The annual number of publications in the field of intelligent rehabilitation in China showed an upward trend, reaching the highest value of 659 in 2023. The institution that has published the largest number of Chinese literature is Shanghai University of Science and Technology. The high-frequency Chinese keywords included stroke, rehabilitation training, robot, etc., and the bursting keywords included early intervention, newborn, cerebral palsy, etc. ConclusionThe annual number of publications in the field of intelligent rehabilitation is on the rise. Artificial intelligence, stroke and intellectual development are the key research areas. In-depth research on the application of technologies such as artificial intelligence and robots in the field of rehabilitation and focusing on the rehabilitation needs of special populations may be the research trends in the future.

Objective:To explore the clinical phenotype and genetic etiology of a child with Developmental epileptic encephalopathy type 104 (DEE 104).Methods:A child who had presented at the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 for recurrent seizures over 1 month was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a five-month-old male, had presented with frequent focal seizures with severe developmental retardation from infancy. Physical examination showed emaciation, microcephaly, oblique palpebral fissures, Stahl′s ears, and hypotonia in the limbs. Electroencephalogram revealed multi-focal sharp waves, slow waves and slow spinal waves. Cranial magnetic resonance imaging revealed enlargement of bilateral lateral ventricles and the third ventricle, along with widening of brain sulci, fissure and cisterna. WES revealed that he had harbored a heterozygous c. 2401C>T (p.His801Tyr) missense variant of the ATP6V0A1 gene. Sanger sequencing showed that both of his parents were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3). The proband was diagnosed with DEE 104. Early treatment with sodium valproate has failed, but the child had become seizure free after the addition of levetiracetam and topiramate. He still had abnormal EEG discharges and severe psychomotor retardation. Combining our case and a review of literature, DEE104 is mainly caused by de novo heterozygous variants of the ATP6V0A1 gene with an autosomal dominant inheritance. The patients may show refractory epilepsy and severe global developmental delay from infancy. Conclusion:The c. 2401C>T (p.His801Tyr) variant probably underlay the DEE104 in this child.

The achievements of the national health informatization of China have been remarkable while still facing various challenges,including infrastructure,overall coordination,technical specifications,network security,and public health risks.By conducting a comparative study of the information management of the top 5 best hospitals in the world in 2021,it identifies that for the future of hospital information construction,there is a need for deepening the application of core scenarios such as electronic medical records,mobile medical care,and telemedicine.Further-more,there is a need to expand technology development at the terminal layer,network layer and platform layer.The key to accelerating the construction of national health information is closely integrating the application require-ments of hospital information management with the development trend of intelligent technology.

Objective:To compare the early therapeutic effects of internal fixation with percutaneous minimally invasive hollow nail assisted by electromagnetic navigation robot and guided by C-arm in the treatment of Tile type C pelvic fracture.Methods:A retrospective cohort study was conducted to analyze the clinical data of 32 patients with Tile type C pelvic fracture admitted to Weihai Central Hospital from January 2020 to March 2022, including 18 males and 14 females; aged 36-60 years [(44.1±3.9)years]. Among them, 17 patients were treated with internal fixation with percutaneous minimally invasive hollow nail assisted by electromagnetic navigation robot (electromagnetic navigation group), and 15 with internal fixation with percutaneous minimally invasive hollow nail guided by C-arm (C-arm guidance group). Operative time, intraoperative blood loss, sacroiliac screw placement time, pubic branch screw placement time, ambulation time and fracture healing time were compared between the two groups. Visual analog scale (VAS), Majeed function score and complication rate at 1 day, 6 months, 12 months after surgery and at the last follow-up were compared between the two groups.Results:All the patients were followed up for 12-24 months [(15.4±0.5)months]. The operative time and intraoperative blood loss in the electromagnetic navigation group were (42.0±2.5)minutes and (10.9±2.6)ml, shorter or less than (50.0±3.5)minutes and (14.9±3.1)ml in the C-arm guidance group (all P<0.01). The placement time of sacroiliac screw and pubic branch screw in the electromagnetic navigation group was (12.4±0.2)minutes and (10.1±0.3)minutes, shorter than (15.3±0.3)minutes and (13.2±0.3)minutes in the C-arm guidance group (all P<0.01). The ambulation time was (3.2±0.4)weeks in the electromagnetic navigation group, earlier than (3.5±0.4)weeks in the C-arm guidance group ( P<0.05). There was no significant difference in fracture healing time between the two groups ( P>0.05). VAS scores of the electromagnetic navigation group were (4.4±0.3)points and (1.1±0.1)points at 1 day and 6 months after surgery respectively, lower than those of the C-arm guidance group [(4.8±0.4)points and (1.2±0.3)points] ( P<0.05 or 0.01). Majeed function scores of the electromagnetic navigation group were (37.3±1.1)points and (88.5±1.4)points at 1 day and 6 months after surgery respectively, higher than those of the C-arm guidance group [(30.7±4.2)points and (82.6±1.8)points] (all P<0.01). There were no significant differences in VAS and Majeed scores at 12 months after surgery and at the last follow-up between the two groups (all P>0.05). There was no significant difference in the incidence of postoperative complications between the two groups ( P>0.05). Conclusion:Compared with C-arm guidance, electromagnetic navigation robot-assisted internal fixation with percutaneous minimally invasive hollow nail for Tile type C pelvic fracture can reduce operative time and intraoperative blood loss, shorten screw placement time and ambulation time, relieve pain and improve functional recovery at early stage.

Neurodegenerative diseases(NDs)are closely related to the central nervous system and characterized by morphological abnormalities and progressive loss of function in specific neuron groups.The main NDs include Alzheimer's disease,Parkinson's disease,amyotrophic lateral sclerosis,multiple sclerosis and Huntington's disease.However,no direct therapies for NDs exist.In recent years,single cell RNA-sequencing(scRNA-seq)has been widely used in various NDs.The pathogenesis of NDs is closely related to morphology of immune cells,and the pathogenesis mainly involves mitochondrial function,glucose metabolism,inflammation,and synaptic transmission.Induced pluripotent stem cells are a potential therapy for NDs.Ultimately,we review the application of scRNA-seq to various NDs and provide a reference for prevention and treatment of NDs.

OBJECTIVE: To construct polyhydroxyalkanoate (PHA) microspheres loaded with bone morphogenetic protein 2 (BMP-2) and human β-defensin 3 (HBD3), and evaluate the antibacterial activity of microspheres and the effect of promoting osteogenic differentiation, aiming to provide a new option of material for bone tissue engineering. METHODS: The soybean lecithin (SL)-BMP-2 and SL-HBD3 were prepared by SL-mediated introduction of growth factors into polyesters technology, and the functional microsphere (f-PMS) containing BMP-2 and HBD3 were prepared by microfluidic technology, while pure microsphere (p-PMS) was prepared by the same method as the control. The morphology of microspheres was observed by scanning electron microscopy and the water absorption was detected; the release curves of BMP-2 and HBD3 in f-PMS were detected by ELISA kit. The antibacterial effect of microspheres in Staphylococcus aureus and Escherichia coli was tested with the LIVE/DEAD^TM BacLight^TM bacterial staining kit; the biocompatibility of microspheres was tested using Transwell and cell counting kit 8 (CCK-8). The effect of microspheres on osteogenic differentiation was determined by collagen type Ⅰ (COL-1) immunofluorescence staining and alkaline phosphatase (ALP) concentration. RESULTS: In this experiment, the f-PMS and p-PMS were successfully constructed. Morphological characteristics showed that p-PMS surface was rough and distributed with micropores of 1-3 μm, while f-PMS surface was smooth and existed white granular material. There was no significant difference in water absorption between the two groups (P>0.05). The release curves of BMP-2 and HBD3 in the f-PMS and p-PMS were basically the same, showing both early sudden release and late slow release. The antibacterial activity of f-PMS was significantly higher than that of p-PMS in the test that against Staphylococcus aureus and Escherichia coli (P<0.05), but there was no significant difference in biocompatibility between the two groups (P>0.05). The results of osteogenic differentiation of human BMSCs showed that the fluorescence intensity of osteogenic specific protein COL-1 of f-PMS was significantly higher than that in p-PMS, and the activity of ALP in f-PMS was also significantly higher than that in p-PMS (P<0.05). CONCLUSION The p-PHA have good antibacterial activity and biocompatibility, and can effectively promote the osteogenic differentiation of human BMSCs, which is expected to be applied to bone tissue engineering in the future.
Humans ; Osteogenesis ; Polyhydroxyalkanoates ; Microspheres ; Alkaline Phosphatase ; Anti-Bacterial Agents/pharmacology* ; Coloring Agents ; Escherichia coli

A fast,reliable,and cost-effective liquid chromatography-tandem mass spectrometry method was established to determine the effects of the traditional Chinese medicine employed to treat coronavirus disease 2019,namely,Lianhua Qingwen granules,Huoxiang Zhengqi capsules,Jinhua Qinggan granules,Shufeng Jiedu capsules,and Angong Niuhuang pills,on the pharmacokinetics of lopinavir/ritonavir in rats.Blood samples were prepared using the protein precipitation method and atazanavir was selected as the internal standard(IS).Separation was performed on an Agilent ZORBAX eclipse plus C18(2.1 mm x 50 mm,1.8 μm)column using acetonitrile and water containing 0.1％formic acid as the mobile phase for gradient elution.The flow rate was 0.4 mL/min and the injection volume was 2 μL Agilent Jet Stream electrospray ionization was used for mass spectrometry detection under positive ion multiple reaction monitoring mode at a transition of m/z 629.3→447.3 for lopinavir,m/z 721.3→296.1 for rito-navir,and m/z 705.4→168.1 for the IS.The method showed good linearity in the concentration range of 25-2500 ng/mL(r=0.9981)for lopinavir and 5-500 ng/mL(r=0.9984)for ritonavir.The intra-day and inter-day precision and accuracy were both within±15％.Items,such as dilution reliability and residual effect,were also within the acceptable limits.The method was used to determine the effects of five types of traditional Chinese medicines on the pharmacokinetics of lopinavir/ritonavir in rats.The pharmaco-kinetic results showed that the half-life of ritonavir in the groups administered Lianhua Qingwen granules and Huoxiang Zhengqi capsules combined with lopinavir/ritonavir was prolonged by approx-imately 1.5-to 2-fold relative to that in the control group.Similarly,the pharmacokinetic parameters of lopinavir were altered.Overall,the results of this study offer important theoretical parameters for the effective clinical use of five types of traditional Chinese medicines combined with lopinavir/ritonavir to reduce the occurrence of clinical adverse reactions.

Objective:To investigate the influence of plain old balloon angioplasty (POBA) and drug-coated balloon (DCB) dilatation on clinical efficacy and safety in patients with lower extremity arteriosclerosis obliterans.Methods:Seventy patients with lower extremity arteriosclerosis obliterans from February 2016 to February 2018 in Central Hospital of Yuncheng City, Shanxi Province were chosen. The patients were divided into control group (35 patients) with POBA dilatation and observation group (35 patients) with POBA and DCB dilatation by random sampling method. The target vessel patency rate, target lesion revascularization rate, minimum lumen diameter and ankle brachial index (ABI) level before and after surgery, Rutherford classification in follow-up after surgery, late lumen loss after surgery and perioperative complications incidence of 2 groups were compared.Results:The target vessel patency rate 6 and 12 months after surgery in observation group was significantly higher than that in control group: 85.71% (30/35) vs. 62.86% (22/35) and 80.00% (28/35) vs. 48.57% (17/35), and there was statistical difference ( P<0.05). The target lesion revascularization rate in observation group was significantly lower than that in control group: 8.57% (3/35) vs. 28.57% (10/35), and there was statistical difference ( P<0.05). The minimum lumen diameter 6 and 12 months after surgery in observation group was significantly more than that in control group and before surgery: (3.20 ± 0.66) mm vs. (1.53 ± 0.38) and (0.45 ± 0.09) mm, (2.97 ± 0.60) mm vs. (1.40 ± 0.35) and (0.45 ± 0.09) mm, and there was statistical difference ( P<0.05). The ABI 6 and 12 months after surgery in observation group was significantly higher than that in control group and before surgery: 0.86 ± 0.17 vs. 0.63 ± 0.09 and 0.24 ± 0.06, 0.82 ± 0.14 vs. 0.60 ± 0.08 and 0.24 ± 0.06, and there was statistical difference ( P<0.05). The proportion of late lumen loss and Rutherford classification >3 12 months after surgery in observation group were significantly less than those in control group: (0.42 ± 0.10) mm vs. (1.59 ± 0.32) mm and 17.14% (6/35) vs. 57.14%(20/35), and there were statistical differences ( P<0.05). The perioperative complications incidence in observation group was significantly lower than that in control group ( P<0.05). Conclusions:Compared with POBA dilatation, DCB dilatation in the treatment of patients with lower extremity arteriosclerosis obliterans possesses better clinical efficacy and safety.