CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

Objective:To research the efficacy and safety of robotic thyroidectomy and bilateral modified radical neck dissection through bilateral axillo-breast approach (BABA) .Methods:We retrospectively analyzed the clinical data of 37 patients with thyroid cancer who received bilateral modified radical neck dissection through the BABA at the Department of Thyroid and Breast Surgery of the 960th Hospital of the People’s Liberation Army from Jan. 2014 to Jan. 2023. There were 24 females and 13 males, and the average age of the patients was (33,22±10.53) years old. The tumor diameter, number of lymph node dissection and metastasis in the central and lateral regions, average operation time, average hospital stay, complications, and aesthetic score were recorded. SPSS 25.0 software was used for statistical analysis, and the measurement data was calculated using mean ± standard deviation ( ± s), and the counting data was expressed in percentages and numbers. Results:A total of 37 thyroid cancer patients underwent robotic bilateral regional lymph node dissection. The 37 patients received total thyroidectomy, bilateral central compartment and cervical lateral regional lymph node dissection. All the pathological types were papillary carcinoma, with a maximal tumor diameter of (1.47±0.85) cm. The average number of central lymph nodes dissected was 19.46±8.84, and there were (10.24±5.95) metastases; The average number of lymph nodes removed from the bilateral cervical region was 38.92±14.21, and there were (7.92±5.84) metastases. The average operation time was (288.05±77.09) min, the average length of stay in the hospital was (10.76±3.92) days, and the average length of stay in the hospital following surgery was (8.03±2.08) days. These patients had no permanent hypoparathyroidism, permanent recurrent laryngeal nerve palsy, infection, accessory nerve injury and phrenic nerve injury after operation. Transient hypoparathyroidism occurred in 15 patients, transient recurrent laryngeal nerve palsy occurred in 1 patient, and chyle leak occurred in 2 patients. One month after surgery, the aesthetic score was 9.51±0.69.Two patients were found lymph node metastases during the (27.81±15.10) months of follow-up, and received robotic cervical lymph node dissection with BABA.Conclusion:For carefully chosen thyroid cancer patients with bilateral lateral cervical region lymph node metastases, robotic bilateral cervical lymph node regional dissection via BABA is safe and feasible, and good cosmetic results can be obtained.

【Objective】 To analyze the association between the composition of gut microbiota and blood pressure in children aged 6 - 9 years, in order to provide new ideas for childhood hypertension prevention and treatment. 【Methods】 A total of 411 children aged 6 - 9 years were recruited in Guangzhou from December 2015 to March 2017. The gut microbiota was characterized by 16S ribosomal RNA amplicon sequencing. The multivariate methods with unbiased variable selection in R (MUVR) were performed to identify the significant OTUs. Spearman correlation as well as multiple linear regression were used to explore the relationship between gut microbiota and blood pressure in children. 【Results】 Significant difference in β diversity index was observed between children with normal blood pressure and those with abnormal blood pressure (R²weighted=0.015,Pweighted=0.01; R²unweighted=0.027, Punweighted=0.001). After adjustment for covariates and controlling the false discovery rate (FDR), multiple linear regression analysis showed that blood pressure level in children decreased with the increasing abundance of OTU_3 (genus Blautia), OTU_131 (genus [Clostridium]_innocuum_group), OTU_1776 (genus Blautia), OTU_2159 (genus Prevotella) and OTU_91 (species Bifidobacterium_breve) (β:-0.18 --0.14; PFDR<0.05. In contrast, blood pressure in children increased with the increasing abundance of OTU_108(genus Sutterella), OTU_1(species Faecalibacterium_prausnitzii)、OTU_8(genus Roseburia), OTU_48 (genus Lachnoclostridium), OTU_81 (genus Coprococcus), OTU_401 (family Lachnospiraceae), OTU_1284 (family Lachnospiraceae) and OTU_2793 (family Lachnospiraceae)(β: 0.14 - 0.21; PFDR<0.05. The influence of gut microbiota on systolic pressure and diastolic pressure may be mediated by the increase of body mass index (BMI). 【Conclusions】 Pediatric blood pressure level is associated with the composition of gut microbiota, while BMI partially plays a mediating role in the relationship. It is recommended to modulate the abundance of microbiota as genus Blautia, Sutterella and so on to prevent hypertension in children.

Objective:To investigate the clinical features and treatment strategies of acute appendicitis in children with malignant tumors and neutropenia.Methods:This was a case series report.A retrospective review was conducted on the children with malignant tumors complicated by neutropenia, who were admitted to the Beijing Children′s Hospital, Capital Medical University between March 2007 and October 2023 due to acute appendicitis.The clinical data of the patients, including demographic characteristics, clinical manifestations, laboratory tests, and treatment strategies, were collected.The Fisher′s precision probability test was performed for group comparisons of count data.The t-test was performed for normally distributed measurement data, and the non-parametric rank-sum test for non-normally distributed measurement data. Results:Twenty-four patients were included in the study.The age of the patients was 4.3 (2.9, 4.3) years, and the male-to-female ratio was 7︰1.Acute lymphoblastic leukemia (75%) was the most common type of malignancy.The main clinical manifestations were fever (92%) and abdominal pain (75%).Six patients underwent surgical treatment (5 laparoscopic surgeries)(the surgical treatment group), and 18 patients received conservative treatment(the conservative treatment group).The proportion of patients with signs of localized or diffuse peritonitis was significantly higher in the surgical treatment group (83%) than in the conservative treatment group (25%)( P=0.007).The symptomatic relief time of acute appendicitis was significantly shorter in the surgical treatment group [(1.00±0.00) days] than in the conservative treatment group [(5.50±3.60) days]( t=-4.323, P=0.001).The length of hospital stay was significantly shorter in patients who underwent laparoscopic surgery [6.00 (2.00, 8.00) days] than in patients who received conservative treatment [9.50 (6.75, 20.50) days]( Z=-2.136, P=0.033).Acute appendicitis was cured in all patients, and there were no deaths during hospitalization. Conclusions:Both surgical and conservative treatments are safe and effective for acute appendicitis in children with malignant tumors and neutropenia.Surgical treatment can relieve the symptoms of acute appendicitis more quickly, and laparoscopic appendectomy can shorten the length of hospital stay.

Objective:To investigate the clinical efficacy of extracorporeal shock wave (ESWT) combined with stretching training in the treatment of chronic plantar fasciitis.Methods:A prospective case-control study was conducted to include the patients with chronic plantar fasciitis who had been admitted to Department of Orthopaedic Trauma, Nanfang Hospital, Southern Medical University from June 2021 to June 2022. A SPSS random number generator was used to randomize the patients into an experimental group (receiving treatment with ESWT combined with stretching training) and a control group (receiving stretching training only). Shear wave elastography (SWE) was used to quantitatively evaluate the elastic modulus of the plantar fascia. The 2 groups were compared in terms of visual analogue scale (VAS) pain score, plantar fascia thickness, and elastic modulus of the plantar fascia in the patients at 12 weeks after treatment; the correlation between VAS pain score and elastic modulus of the plantar fascia was examined using Spearman analysis in the patients at 12 weeks after treatment.Results:This study included a total of 41 patients (52 feet), 20 males and 21 females with an age of (49.9±8.2) years. There were 16 left sides, 14 right sides and 11 bilateral sides affected. The course of the disease was 7.0 (6.0, 12.0) months. The 2 groups were comparable because there were no significant differences in the general data before treatment between them ( P>0.05). The VAS pain score at 12 weeks after treatment for the experimental group was 1.0 (1.0, 2.0) points, significantly lower than that for the control group [3.0 (2.0, 3.0) points] ( P<0.05). The elastic modulus of the plantar fascia at 12 weeks after treatment for the experimental group was (79.48 ± 17.65) kPa, significantly higher than that for the control group [(57.08 ± 14.16) kPa] ( P<0.05). However, there was no statistically significant difference between the 2 groups in the thickness of the plantar fascia at 12 weeks after treatment ( P>0.05). There was a significant correlation between VAS pain score and elastic modulus of the plantar fascia after 12 weeks of treatment ( r = -0.708, P<0.001). Conclusion:In the treatment of chronic plantar fasciitis, combination of ESWT and stretching training is more effective than stretching training only.

Objective:To investigate the short-term outcome of transoral robotic thyroidectomy.Methods:This is a retrospective case series study. The clinicopathologic characteristics and postoperative results of 107 patients who underwent transoral robotic thyroidectomies in the Department of Thyroid and Breast Surgery of the 960 th Hospital of People′s Liberation Army from May 2020 to August 2023 were retrospectively analyzed. There were 12 males and 95 females, with an age of (31.8±9.4) years (range: 11 to 55 years), including 20 benign tumors and 87 thyroid papillary carcinoma. Postoperative follow-up was carried out through returning visit and telephone, mainly to observe the recovery of postoperative complications, cosmetic effects and recurrence results. Results:All transoral robotic thyroidectomy was successfully completed without conversion to open surgery. The tumor size of thyroid papillary carcinoma patients was (5.6±2.7) mm (range: 2 to 15 mm). Furthermore, central cervical lymph node metastasis was found in 45 cases. The number of central cervical lymph nodes retrieved and metastasized ( M(IQR)) were 11 (8) (range: 3 to 26) and 1 (3) (range: 0 to 13), respectively. There was no recurrent laryngeal nerve injury and permanent hypoparathyroidism. The transient hypoparathyroidism after surgery was 8 cases. Other complications occurred as follows: postoperative infection ( n=1), left submandibular perforation ( n=1), skin scald ( n=1), and perioral numbness ( n=1), oral tear ( n=2). The postoperative stay was 6 (2) days (range: 3 to 11 days). No local lymph node recurrence or metastasis occurred after a follow-up of (22.6±10.0) months (range: 1.0 to 37.4 months). All patients were satisfied with the postoperative cosmetic results, the aesthetic effect score was 9.3 (0.2) (range: 8.4 to 9.6) one month after surgery. Conclusion:For highly screened patients with early thyroid cancer, experienced surgeons can perform a transoral robotic thyroidectomy that has excellent cosmetic results.

Objective To investigate the effect of glutaminase 2(GLS2)on the proliferation and invasion ability of intrahepatic cholangiocarcinoma cells and its mechanism.Methods Human intrahepatic cholangiocarcinoma RBE cells in the logarithmic phase were randomly divided into a blank control group(Con group),a GLS2 overexpression negative control group(pcDNA-NC group),a pcDNA-GLS2 group,and a pcDNA-GLS2+phosphorylation Janus kinase(p-JAK)group.RBE cells in the Con group did not transfect any plasmid;RBE cells in the pcDNA-NC group were transfected with pcDNA-NC plasmid;RBE cells in the pcDNA-GLS2 group were transfected with pcDNA-GLS2 plasmid;RBE cells in the pcDNA-GLS2+p-JAK group were transfected with pcDNA-GLS2 plasmid and co-cultured with p-JAK peptide.Real-time fluorescence quantitative polymerase chain reaction was used to detect the expression of GLS2 mRNA in each group of cells;cell counting kit-8 was used to detect the proliferation ability of cells in each group;flow cytometry was used to detect the apoptotic ability of cells in each group;Transwell assay was used to detect the invasion ability of cells in each group;Western blot was used to detect the relative expression levels of Janus kinase 2(JAK2),phosphorylation JAK2(p-JAK2),signal transducer and activator of transcription 3(STAT3),and phosphorylation STAT3(p-STAT3)proteins in cells.Results The relative expression level of GLS2 mRNA in the pcDNA-GLS2 group was significantly higher than that in the Con group and pcDNA-NC group(P＜0.05);the relative expression level of GLS2 mRNA in the pcDNA-GLS2+p-JAK group was significantly lower than that in the pcDNA-GLS2 group(P＜0.05).The survival rate of cells in the pcDNA-GLS2 group was significantly lower than that in the Con group(P＜0.05),and compared with the pcDNA-GLS2 group,the survival rate of cells in the pcDNA-GLS2+p-JAK group was significantly increased(P＜0.05).Compared with the Con group,the apoptosis rate of cells in the pcDNA-GLS2 group significantly increased(P＜0.05);the apoptosis rate of cells in the pcDNA-GLS2+p-JAK group was significantly lower than that in the pcDNA-GLS2 group(P＜0.05).The migration number of cells in the pcDNA-GLS2 group was significantly lower than that in the Con group(P＜0.05);compared with the pcDNA-GLS2 group,the pcDNA-GLS2+p-JAK group showed a significant increase in the cell migration number(P＜0.05).Compared with the Con group,the p-JAK2/JAK2 and p-STAT3/STAT3 ratios in the pcDNA-GLS2 group were significantly reduced(P＜0.05);the p-JAK2/JAK2 and p-STAT3/STAT3 ratios in the pcDNA-GLS2+p-JAK group were significantly higher than those in the pcDNA-GLS2 group(P＜0.05).Conclusion Overexpression of GLS2 can regulate the biological activity of intrahepatic cholangiocarcinoma cells by inhibiting the JAK2/STAT3 signaling pathway,inhibit the proliferation,invasion and migration of intrahepatic cholangiocarcinoma RBE cells,and induce the cell apoptosis.

Objective:To investigate the short-term outcome of transoral robotic thyroidectomy.Methods:This is a retrospective case series study. The clinicopathologic characteristics and postoperative results of 107 patients who underwent transoral robotic thyroidectomies in the Department of Thyroid and Breast Surgery of the 960 th Hospital of People′s Liberation Army from May 2020 to August 2023 were retrospectively analyzed. There were 12 males and 95 females, with an age of (31.8±9.4) years (range: 11 to 55 years), including 20 benign tumors and 87 thyroid papillary carcinoma. Postoperative follow-up was carried out through returning visit and telephone, mainly to observe the recovery of postoperative complications, cosmetic effects and recurrence results. Results:All transoral robotic thyroidectomy was successfully completed without conversion to open surgery. The tumor size of thyroid papillary carcinoma patients was (5.6±2.7) mm (range: 2 to 15 mm). Furthermore, central cervical lymph node metastasis was found in 45 cases. The number of central cervical lymph nodes retrieved and metastasized ( M(IQR)) were 11 (8) (range: 3 to 26) and 1 (3) (range: 0 to 13), respectively. There was no recurrent laryngeal nerve injury and permanent hypoparathyroidism. The transient hypoparathyroidism after surgery was 8 cases. Other complications occurred as follows: postoperative infection ( n=1), left submandibular perforation ( n=1), skin scald ( n=1), and perioral numbness ( n=1), oral tear ( n=2). The postoperative stay was 6 (2) days (range: 3 to 11 days). No local lymph node recurrence or metastasis occurred after a follow-up of (22.6±10.0) months (range: 1.0 to 37.4 months). All patients were satisfied with the postoperative cosmetic results, the aesthetic effect score was 9.3 (0.2) (range: 8.4 to 9.6) one month after surgery. Conclusion:For highly screened patients with early thyroid cancer, experienced surgeons can perform a transoral robotic thyroidectomy that has excellent cosmetic results.

Objective:To investigate the feasibility and clinical efficacy of posterior vertebral column resection (PVCR) combined with polymethylmethacrylate-augmented pedicle screw instrumentation and shortening of spinal column for stage Ⅲ Kümmell's disease with very severe collapse of fractured vertebra.Methods:From January 2017 to September 2021, 9 patients with stage Ⅲ Kümmell's disease with very severe collapse of fractured vertebra underwent PVCR combined with polymethylmethacrylate-augmented pedicle screw instrumentation and shortening of spinal column. Their medical records were retrospectively analyzed. There were 1 male and 8 females, aged (66.9±5.8) years. The injured vertebra was located at T 11 in 2 patients, at T 12 in 4, at L 1 in 2 and at L 2 in 1. X-ray, CT and MRI were performed before operation. The posterior intervertebral heights of adjacent vertebral bodies of the fractured vertebra in the median sagittal position were measured on CT or MRI to evaluate the shortening of the spinal column before PVCR. Recorded were intraoperative bleeding volume, operation time, complications, bone graft fusion, and American Spinal Injury Association (ASIA) grading at preoperation and the last follow-up. The visual analogue scale (VAS) pain scores, Oswestry disability index (ODI) scores, and kyphotic cobb angles at preoperation, 1 week and 3 months postoperation, and the last follow-up were compared to evaluate the clinical efficacy of PVCR. Results:All patients underwent surgery successfully, with tight closure of adjacent vertebrae after resection of the injured vertebra and bone grafting. Operation time was (240.6±23.2) min and intraoperative bleeding (505.6±95.0) mL. The 9 patients were followed up for (17.3±5.6) months. No worsening symptoms of nerve injury, cerebrospinal fluid leakage, or other serious complications were found after operation, nor such complications as loosening or breakage of internal fixation or adjacent vertebral fractures. Bone fusion was achieved at the bone graft sites in all patients by the last follow-up. The VAS and ODI scores and cobb angles at 1 week and 3 months postoperation and at the last follow-up were significantly decreased compared with preoperation ( P<0.05). There were no significant differences in VAS scores or cobb angles among postoperative 1 week and 3 months and the last follow-up ( P>0.05), but pairwise comparisons between different time points after operation showed significant differences in ODI, with postoperative 1 week > postoperative 3 months > the last follow-up ( P<0.05). The ASIA grading at the last follow-up was improved from preoperative grade C to grade D in 2 cases, from preoperative grade C to grade E in 1 case and from preoperative grade D to grade E in 5 cases. Conclusion:PVCR combined with polymethylmethacrylate-augmented pedicle screw instrumentation and shortening of spinal column is a feasible and effective surgical treatment for stage Ⅲ Kümmell's disease with very severe collapse of fractured vertebra, leading to good clinical efficacy.

Abstract: Objective　The method of "molecular docking - molecular dynamics - in vitro pharmacology" was used to screen and optimize small molecule polypeptide compounds that can block PD-1/PD-L1 binding and have high anti-tumor activity. Methods Using the 5-peptide compound database constructed by our team and the three-dimensional structure data of the PD-L1 protein downloaded from the protein database (PDB), the peptide compounds obtained by flexible molecular docking using Molecular Operating Environment software. The molecular dynamics calculation and analysis of the compounds with the highest GWVI/WSA (generalized Born volume integral/weighted surface area) free energy change value (ΔG) were carried out, including the root mean square deviation (RMSD) of the position change of the weight atom and the interaction energy (the sum of Lennard-Jones potential and Coulombic energy). The blocking effect of ligand compounds on PD-1/PD-L1 binding was analyzed by the homogeneous time-resolved fluorescence (HTRF) technique. The co-culture system of Jurkat T lymphocytes and melanoma B16-F10 cells was established to explore the effect of compound ligands on the killing effect of T cells on tumors and the effect on the secretion level of IL-2 in the co-culture supernatant. Results The selected polypeptide compounds were analyzed by molecular dynamics, and the binding of RGGHA to RGGHH and PD-L1 was stable. There are many kinds of interactions between RGGHA and PD-L1，which can compete with PD-1 ligands to bind Asp122, Try123 and Lys124 sites of the PD-L1 protein and block PD-1/PD-L1 signal transduction. HTRF experiments showed that the binding inhibition rate of RGGHA to PD-1 and PD-L1 was 58.38%, and that of RGGHH was 42.73%. In addition, we established a co-culture system of Jurkat T lymphocytes and melanoma B16-F10 cells to explore the immunostimulatory effect and mechanism of peptides. The results show that RGGHA and RGGHH can significantly increase the secretion level of IL-2, improve the killing ability of T cells against tumor cells and activate the tumor immune microenvironment. Conclusions The study found that the polypeptide compounds RGGHA and RGGHH can effectively block the PD-1/PD-L1 interaction and reactivate the anti-cancer immune response, which can be used as lead compounds for new drug development.