OBJECTIVE To investigate the effect of sustained-release glucocorticoid stent on nasal mucosal eosinophil(Eos)%and nasal microbiota in patients undergoing eosinophilic chronic sinusitis with nasal polyps(ECRSwNP)surgery.METHODS A total of 104 patients with ECRSwNP admitted to Qianjiang Central Hospital from August 2020 to August 2022 were selected.The patients were randomly divided into an observation group and a control group,with 52 patients in each group.During nasal endoscopic surgery,slow-release glucocorticoid stents were implanted or not.The hospital stay,nasal ventilation recovery time,and total effective rate of treatment were compared between the two groups.The nasal mucosal Eos%and nasal microbiota were compared between the two groups before and one month after surgery.The Lund-Kennedy score of nasal endoscopy,SNOT-22 outcome tests,and visual analogue scale(VAS)scores were compared between the two groups before and three months after surgery.The intervention rate and frontal sinus patency rate at 3 months after surgery in two groups.RESULTS The hospitalization time and nasal ventilation recovery time of the observation group were significantly lower than those of the control group(P<0.05).The total effective rate of the observation group treatment was 92.31%(48/52),which was significantly higher than that of the control group 76.92%(40/52)(P<0.05).After surgery,the Eos%of the nasal mucosa in both groups significantly decreased compared to before surgery(P<0.05),and the observation group was lower than the control group(P<0.05).There was no statistically significant difference in Shannon index and Chaol index between the two groups before surgery(P>0.05);The Shannon index in the control group decreased significantly after surgery(P<0.05),while the Chaol index increased significantly after surgery(P<0.05);There was no significant difference in postoperative Shannon index and Chaol index between the observation group and preoperative group(P>0.05).After surgery,the Lund-Kennedy score,SNOT-22 score,and VAS score in both groups were significantly lower than before(P<0.05),and the observation group was lower than the control group(P<0.05).The intervention rate of the observation group was significantly lower than that of the control group(P<0.05),and the frontal sinus patency rate was significantly higher than that of the control group(P<0.05).CONCLUSION The sustained-release glucocorticoid stent is beneficial for the epithelialization of the surgical cavity in ECRSwNP patients,reducing mucosal Eos%,improving clinical symptoms,ensuring smooth frontal sinus drainage,reducing postoperative intervention rates,and having no significant impact on nasal microbiota.

Objective Deep brain stimulation (DBS) can greatly improve the clinical symptoms of Parkinson's disease (PD),but it can poorly improve the similar clinical symptoms of multiple system atrophy P-type (MSA-P);therefore,identification is a necessity for the two diseases before DBS is carried out on these patients;surface electromyography (sEMG) was employed to analyze the surface electromyographic characteristics associated with tremor and rigidity of PD and MSA-P to explore the role of sEMG in the differential diagnosis of PD and MSA-P.Methods Twenty patients with PD and 25 patients with MSA-P,admitted to our hospital from June 2013 to January 2015,were enrolled in the study.The sEMG was performed on all patients on the 2nd d of hospitalization.Tremor frequency,tremor sEMG activity intensity and postural tremor latency were analyzed.Synchronous sEMG activity intensity during passive activities was analyzed.Root mean square (RMS) in two states was calculated,and t-test was applied to compare tremor frequency,postural tremor latency and sEMG activity intensity.Results The incidence of rest tremor in MSA-P patients was 36％ and that in PD patients was 60％,with significant difference (P＜0.05).And the incidence ofpostural tremor in MSA-P ones was 44％ and that in PD ones was 35％,with significant difference (P＜0.05).Besides,the postural tremor latency in MSA-P patients was significantly longer than that in PD patients ([9.3±3.2] s vs.[5.3±2.1] s,P＜0.05).Thepostural tremor and rest tremor frequencies of MSA-P patients ([7.3±2.1] and [6.4±3.6]-Hz) were significantly higher than those in PD patients ([5.3±2.4] and [4.9±1.2] Hz,P＜0.05).In rest tremor,RMS of flexor and extensor in MSA-P patients was significantly decreased as compared with that in PD patients (P＜0.05);in postural tremor,RMS of flexor and extensor in MSA-P patients was significantly decreased as compared with that in PD patients (P＜0.05).During passive activities,RMS of extensor in MSA-P patients was statistically higher than that in PD patients ([27.927.9± 11.4] vs.[18.318.3±6.4] μV,P＜0.05),while there was no significant difference between RMS of flexor in MSA-P and PD patients ([31.1±13.6] vs.[29.2±8.9] μV,P＞0.05).Conclusion The sEMG can be applied in the preoperative differential diagnosis for DBS of PD and MSAP.

Objective:To investigate the reasons for efficacy heterogeneity analysis of 3 patients with pantothenate kinase associated neurodegeneration (PKAN) from one family after deep brain stimulation (DBS).Methods:Three PKAN patients with the same PANK2 gene mutation from one family, admitted to and accepted bilateral subthalamic nucleus (STN)-DBS in our hospital from May to August 2021, were selected. The clinical manifestations, including general condition, medical history, symptoms, and signs, of these 3 patients were collected; Burkefahn-Marsden Dystonia Movement Rating Scale (BFMDRS) scores and surface electromyography results were analyzed and compared before DBS and 2 weeks and 6 months after DBS. Results:The clinical phenotype of these 3 patients had obvious heterogeneity: patient 1 had the latest onset age and shortest duration, and the main manifestation included abnormal body activity and forced postures, without obvious body deformation; preoperative surface electromyography suggested that the involuntary muscle contractions intensity was the smallest, and involuntary movements characterized by alternating patterns of contractile discharge activity were the predominant. The patient 2 and patient 3 had early onset age and long course of disease with gradually aggravated disease, and manifested as lower limb claudication and involuntary limb torsion; patient 3 also had marked limb deformities; preoperative surface electromyography showed high intensity of involuntary muscle contraction and torsional spastic dystonia characterized by co-contractile firing activity. The BFMDRS scores and surface electromyography results of the 3 patients after DBS were significantly improved as compared with those before surgery, with obvious heterogeneity; the improvement rates of BFMDRS scores of patient 1, 2 and 3 were 88.1%, 60.5%, and 43.2%, and the improvement rates of surface electromyography were 82.36%, 63.79% and 72.25%, respectively,at 6 months after surgery as compared with those before surgery.Conclusion:PKAN exhibits complicated clinical heterogeneity, which is one of the reasons for efficacy heterogeneity for PKAN after DBS.

Objective:To investigate the reasons for efficacy heterogeneity analysis of 3 patients with pantothenate kinase associated neurodegeneration (PKAN) from one family after deep brain stimulation (DBS).Methods:Three PKAN patients with the same PANK2 gene mutation from one family, admitted to and accepted bilateral subthalamic nucleus (STN)-DBS in our hospital from May to August 2021, were selected. The clinical manifestations, including general condition, medical history, symptoms, and signs, of these 3 patients were collected; Burkefahn-Marsden Dystonia Movement Rating Scale (BFMDRS) scores and surface electromyography results were analyzed and compared before DBS and 2 weeks and 6 months after DBS. Results:The clinical phenotype of these 3 patients had obvious heterogeneity: patient 1 had the latest onset age and shortest duration, and the main manifestation included abnormal body activity and forced postures, without obvious body deformation; preoperative surface electromyography suggested that the involuntary muscle contractions intensity was the smallest, and involuntary movements characterized by alternating patterns of contractile discharge activity were the predominant. The patient 2 and patient 3 had early onset age and long course of disease with gradually aggravated disease, and manifested as lower limb claudication and involuntary limb torsion; patient 3 also had marked limb deformities; preoperative surface electromyography showed high intensity of involuntary muscle contraction and torsional spastic dystonia characterized by co-contractile firing activity. The BFMDRS scores and surface electromyography results of the 3 patients after DBS were significantly improved as compared with those before surgery, with obvious heterogeneity; the improvement rates of BFMDRS scores of patient 1, 2 and 3 were 88.1%, 60.5%, and 43.2%, and the improvement rates of surface electromyography were 82.36%, 63.79% and 72.25%, respectively,at 6 months after surgery as compared with those before surgery.Conclusion:PKAN exhibits complicated clinical heterogeneity, which is one of the reasons for efficacy heterogeneity for PKAN after DBS.

Head and neck squamous cell carcinoma(HNSCC)is characterized by high recurrence or distant metastases rate and the prognosis is challenging.There is mounting evidence that tumor-infiltrating B cells(TIL-Bs)have a crucial,synergistic role in tumor control.However,little is known about the role TIL-Bs play in immune microenvironment and the way TIL-Bs affect the outcome of immune checkpoint blockade.Using single-cell RNA sequencing(scRNA-seq)data from the Gene Expression Omnibus(GEO)database,the study identified distinct gene expression patterns in TIL-Bs.HNSCC samples were categorized into TIL-Bs inhibition and TIL-Bs activation groups using unsupervised clustering.This classification was further validated with TCGA HNSCC data,correlating with patient prognosis,immune cell infiltration,and response to immunotherapy.We found that the B cells activation group exhibited a better prognosis,higher immune cell infiltration,and distinct immune checkpoint levels,including elevated PD-L1.A prognostic model was also developed and validated,highlighting four genes as potential biomarkers for predicting survival outcomes in HNSCC patients.Overall,this study provides a foundational approach for B cells-based tumor classification in HNSCC,offering insights into targeted treatment and immunotherapy strategies.

Objective:To explore the genetic basis for a child featuring global developmental delay and epilepsy.Methods:A child who had presented at Guangzhou Women and Children′s Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c. 115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+ PM3_Supporting+ PP3_Moderate+ PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product. Conclusion:The homozygous c. 115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.