Objective To determine the role of SCN1A gene variation in the development of familial febrile seizures (FS).Methods Clinical data were collected from 8 familial FS pedigrees, and peripheral venous blood samples were collected from the probands and other available family members. All 26 coding exons and exon-intron boundaries at least 50 bases of the human SCN1A gene were amplifled by polymerase chain reaction, the products were subsequently sequenced. To novo variation, other family members were screened for the corresponding exons. Two hundred age-matched healthy children were served as normal controls. ResultsA total of 33 variations in the SCN1A gene were identifled in these families. Of these variations, one was a missense mutation; the remaining 32 variations were previously submitted as single nucleotide polymorphisms (SNPs). A c.2650G>A heterozygous missense mutation in exon 15 of the SCN1A gene found in the proband of family 4 was inherited from his father who had seizures with fever in early childhood. The c.2650G>A mutation was absent in the 400 alleles of normal controls. To the best of our knowledge, the SCN1A c.2650G>A mutation has neither been reported in the NCBI SNP database nor in the literature to date. The c.2650G>A mutation changes a glycine at amino acid 884 in the SCN1A protein to a serine (p.Gly884Ser). Protein sequence analysis showed that the p.Gly884Ser is located at a highly conserved region between the 4th and 5th transmembrane segment of the homologous domain Ⅱ of voltage-gated sodium channel 1 subunit (DIIS4-S5). ConclusionsThe pathogenesis of familial febrile seizures was related to the SCN1A variation, the mutation outside the region of the voltage sensor (S4) and ion channel pore (S5-S6) of the voltage gated sodium channelα-subunit may be an important factor to cause mild phenotype epilepsy syndrome.

Objective To analyze the effect of clinical temporomandibular joint (TMJ) functional training for prevention of trismus in nasopharyngeal carcinoma (NPC) patients treated with radiotherapy.Methods According to the performance of patients clinical TMJ functional training, 43 NPC patients treated with three-dimensional conformal radiation therapy (3DCRT) and 82 NPC patients treated with general twodimensional radiation therapy were assigned respectively to the study group and the contrast group. The clinical TMJ functional training on patients of the study group was performed regularly and intensively under good guidance and supervision from the beginning of radiotherapy. The clinical TMJ functional training on patients of the contrast group was performed without such strict supervison after the first guidance. The size of the distance was measured between the incisors of the patients of the study group and the contrast group before radiotherapy and the final follow-up within two years after radiotherapy. Results The reduction of the distance between the incisors were [(0.64±0.59) cm] in the study group of 3DCRT in contrast to the [(0.81±0.64) cm] in the contrast group (P ＞0.05). The incidence of trismus was 8.1% in the study group of 3DCRT in contrast to the 21.1% in the contrast group (P ＞0.05); The reduction of the distance between the incisors were [(0.72±0.65) cm] in the study group of general two-dimensional radiotherapy in contrast to the [(1.64±0.73) cm] in the contrast group (P ＜0.01). The incidence of trismus was 19.0% in the study group of general two-dimensional radiotherapy in contrast to the 47.5% in the contrast group (P ＜0.01). Conclusion TMJ Functional training method is the good method that can lower the severity and the incidence of trismus in NPC patients treated with radiotherapy. It is more evident and more important for patients with general twodimensional radiotherapy.

OBJECTIVE: To study the mechanism and clinical significance of specific immunotherapy (SIT) on the expression changes of GM-CSF and IL-5 in the tissue samples of recurrent nasal polyps. METHOD: Perennial allergic rhinitis patients with recurrent nasal polyps were randomly divided into 2 groups. The experimental group of 19 patients was treated by SIT and standardized treatment (glucocorticoid nasal spray) , and the control group of 17 patients was only treated by standardized treatment (glucocorticoid nasal spray). We measured the expression levels of GM-CSF and IL-5 in the tissue samples of the nasal polyps by ELISA, and compared the results obtained before treatment with expression levels detected at 6 months and 1 year after the treatment. RESULT: The expression of GM-CSF and IL-5 in the recurrent nasal polyps reduced significantly (P < 0.05) in both groups after 6 months and 1 year post-treatment compared with pre-treatment, and the expression of GM-CSF and IL-5 in the experimental group was much lower than that of the control group. CONCLUSION SIT decreases the expression of GM-CSF and IL-5 and reduces the inflammatory reaction in the tissue samples of recurrent nasal polyps.
Enzyme-Linked Immunosorbent Assay ; Granulocyte-Macrophage Colony-Stimulating Factor ; metabolism ; Humans ; Immunotherapy ; Inflammation ; drug therapy ; Interleukin-5 ; metabolism ; Nasal Mucosa ; pathology ; Nasal Polyps ; drug therapy ; metabolism ; Rhinitis, Allergic, Perennial ; drug therapy ; metabolism

Aim To investigate the effect of curcumin against high-fat-diet induced C57BL/6J mice bone changes and the correlation between the expression of cathepsin K and curcumin.Methods Curcumin treated C57BL/6J mice had been on high fat diet for 12 weeks.The HE, Alizarin red S staining and Safranin O/fast green staining of femur were employed to evaluate bone microstructure, bone metabolism and bone development.The expressions of cathepsin K were assessed by Western blot and immunohistochemical staining.Results Histopathological results showed that curcumin could improve the destruction of trabecular bone structure, cartilage development and bone calcification.Biomechanical results proved that curcumin could improve the bone strength of the type 2 diabetic mice induced by high fat.The results of immunohistochemistry and Western blot assay indicated that curcumin could significantly inhibit the expression of cathepsin K in bone tissues of mice.Conclusion Curcumin can increase bone strength, improve bone microstructure, and enhance the degree of bone calcification, which may be achieved by inhibiting the expression of cathepsin K.

Objective:To investigate the early effects of cup in cup technique in reconstructing paprosky III acetabular bone defect in revision hip arthroplasty.Methods:From January 2017 to December 2019, a total of 20 cases (20 hips) with paprosky III acetabular bone defect were reconstructed by Cup-in-Cup technique, including 9 males and 11 females. The age ranged from 45 to 76 years, with an average of 64.6 years. The causes of revision were aseptic loosening of prosthesis in 17 cases and loosening of prosthesis caused by periprosthetic infection in 3 cases. There were 13 hips with acetabular bone defect of paprosky IIIA and 7 hips with paprosky IIIB. The acetabular side was repaired in 13 cases, and the acetabulum and femoral side were repaired in 7 cases at the same time. Harris hip score was used to evaluate hip function during postoperative follow-up. The occurrence of serious complications such as intraoperative vascular and nerve injury, postoperative prosthesis dislocation, periprosthetic infection and fracture were counted. The height and horizontal position of hip rotation center were measured by X-ray film.Results:The operation duration was 110±25 min (range 80-180 min) and intraoperative bleeding was 700±180 ml. All cases were followed up for 12-36 months, with an average of 18 months. At the last follow-up, the Harris hip score of 16 cases was more than 80, with excellen in 2 cases, good in 14 cases and fair in 4 cases. The Harris score was 84.3±7.5, which was significantly higher than that before operation 40.1±16.6 ( t=15.34, P<0.001). The height of hip joint rotation center on the affected side decreased from 34.2± 3.3 mm before operation to 18.6±2.8 mm after operation with significant difference ( t=15.11, P<0.001). The horizontal distance increased from 18.1±5.5 mm before operation to 26.2±7.3 mm after operation with significant difference ( t=-5.95, P<0.001). After operation, the height of hip joint rotation center on the affected side was slightly higher than that on the opposite side, with a significant difference between the affected side 18.6±2.8 mm and the opposite side 12.2±3.3 mm ( t=6.73, P=0.018). The horizontal position was 26.2±7.3 mm, which had no significant difference compared with the contralateral 30.1±5.5 mm ( t=-3.29, P=0.381). There was no vascular and nerve injury, periprosthetic infection or incision related complications. During the following-up, the prosthesis was in satisfied position without prosthesis or screw loosening and fracture. Conclusion:The reconstruction of paprosky III acetabular bone defect with Cup-in-Cup technique in revision hip arthroplasty can obtain satisfied early effects, with achieving relatively normal hip rotation center and initial stability.

Objective:To investigate the value and influence factors of preoperative and intraoperative localization of ectopic hyperparathyroidism (EHPT).Methods:Results of 99mTc-sestamibi ( 99mTc-MIBI), neck ultrasound, contrast CT and intraoperative local venous parathyroid hormone (IOLVPTH) were retrospectively analyzed in 205 patients with primary hyperparathyroidism (PHPT) suspected of EHPT. Results:Incidence of EHPT was 16.6% (34 cases), and 36 ectopic lesions were detected. The proportion of EHPT in antero-superior mediastinum, intrathyroidal, in the retropharyngeal region, in carotid sheath, in the prevertebral region and intrapericardial were 44.1% (15 cases), 29.4% (10 cases), 11.8% (4 cases), 5.9% (2 cases), 5.9% (2 cases) and 2.9% (1 cases), respectively. Contrast CT was the most sensitive (86.1%, 31 lesions/36 lesions) for EHPT, followed by 99mTc-MIBI (66.7%, 24 lesions/36 lesions), IOLVPTH monitoring (61.8%, 21 lesions/34 lesions) and neck ultrasound (55.6%, 20 lesions/36 lesions). Contrast CT was most sensitive,100% in detecting deep-located EHPT lesions, whereas IOLVPTH had advantages in detecting intrathyroidal EHPT lesions, with a sensitivity of 100.0%.The combined use of 99mTc-MIBI and neck ultrasound showed a sensitivity of 77.8% in the localization of EHPT. Conclusions:Contrast CT is highly sensitive in the localization of EHPT. The combined use of preoperative imaging and IOLVPTH monitoring helps to higher localization for EHPT.

Objective:This study is to understand the hot spots and trends in the recruitment of clinical trial subjects in China over the past 20 years, explore the existing problems and countermeasures, and provide scientific ideas for domestic clinical trial institutions to effectively solve the problem of subject recruitment.Methods:Bibliometric analysis was used to study the relevant literature from three major domestic databases from 2001 to 2021, analyzing key indicators such as annual publication volume, journal distribution, institutional distribution, regional distribution, and high-frequency keyword co-occurrence.Results:A total of 162 articles were selected. The results showed that the overall publication volume in this field showed an upward trend, and the research institutions were diversified, with a concentration of medical and pharmaceutical institutions and universities. The current research hotspots in this field focused on quality and efficiency improvement of subject recruitment, with themes of subject protection, ethical review, regulation development, standardized management, etc.Conclusions:The research in this field has made significant progress, but the overall research level is still relatively weak. Therefore, it is suggested that the country should play a role in macro-regulation, on the one hand, starting with top-level design, promoting the construction of a standardized management system for subject recruitment, continuously strengthening subject protection, and enhancing the effectiveness of scientific recruitment. On the other hand, releasing the potential of grassroots institutions and giving full play to the volume advantage by promoting the sinking of advantageous resources. Meanwhile, great importance should be attached to the development of Phase I clinical trials, giving full play to the strong internal energy of traditional medicine and promoting the development of Chinese traditional medicine. These multi-measures should provide a theoretical basis for exploring the transformation of ′clinical research hospitals′, and promote the high-quality development of new drug research and development in China.

Objective:To study relative risk factors for temporarily inhibited parathyroid hormone (PTH) secretion after surgery of primary hyperparathyroidism (PHPT).Methods:Seventy-two cases with PHPT from October 2017 to March 2019 in Beijing Chaoyang Hospital were analyzed retrospectively, including 22 males and 50 females aged from 13 to 83 years old. They were reviewed and divided into a complete inhibition group (24 cases, PTH=0 pg/ml), an incomplete inhibition group (23 cases, 0

Objective: To determine the effects of ginsenoside rg3 on the body weight of C57BL/6J obese mice and to investigate its underlying weight loss mechanisms with a focus on white fat browning-related factors. Methods: Eight-week-old C57BL/6J male mice were fed a high-fat diet for 12 successive weeks to construct the obese model. C57BL/6J male mice were fed a standard chow diet to construct normal control group. After 8 weeks of intervention with ginsenoside rg3, the food intake, body weight, body fat mass, blood sugar, and lipid profiles of the mice in each group were detected. Hematoxylin and eosin (HE) staining was used to observe the histological morphology of the adipose tissues. Real-time poly-merase chain reaction (RT-PCR) and Western blotting (WB) were applied to detect the gene and protein expression levels of peroxisome proliferators-activated receptor gama (PPARγ), Peroxisome proliferator-activated receptor-gamma coactivator -1alpha (PGC-1α), PR domain containing 16 (PRDM16), and uncoupling protein 1 (UCP-1).Results: Compared to normal control group mice, the body weight, food intake, body fat composition, and blood lipid levels of model group mice increased significantly. After 8 weeks of intervention with ginsenoside rg3, body weight, body fat composition, food intake, and blood lipid profiles decreased. HE staining showed that ginsenoside rg3 can improve white adipocyte hypertrophy to a certain extent. RT-PCR and WB demonstrated that ginsenoside rg3 can increase the mRNA and protein expression levels of PPARγ, PGC-1α, PRDM16, and UCP-1 in the adipose tissues of obese mice. Conclusion: The weight reduction effect of ginsenoside rg3 may be related to the promotion of white fat browning.

Objective:To investigate the influencing factors of pathologic complete response (pCR) after neoadjuvant chemoradiotherapy (NCRT) in patients with locally advanced esophageal squamous cell carcinoma (ESCC), and to compare the clinical prognosis of ESCC patients with and without pCR after NCRT (40 Gy/ 20F).Methods:Among patients enrolled in a prospective clinical study, 87 ESCC patients treated with NCRT followed by surgery in Tianjin Medical University Cancer Institute & Hospital between June 2015 and October 2019 were selected. They were divided into the pCR ( n=35) and non-pCR groups ( n=52). Clinicopathological characteristics were retrospectively analyzed and subsequent follow-up was performed. Clinical prognosis and influencing factors were compared between two groups by using Kaplan-Meier and Cox regression analyses. Results:After NCRT, 40% of the ESCC patients could achieve pCR. Univariate analysis showed that patients in the pCR group had a disease-free survival (DFS) of 39.3 months and an overall survival (OS) of 64.0 months. In comparison, patients in the non-pCR group had a DFS of only 14.1 months and an OS of only 25.2 months. The differences were statistically significant (DFS: P<0.01, OS: P<0.05). Multivariate analysis revealed that whether pCR or not after NCRT, age, number of primary lesions, evaluation results after NCRT and postoperative pathological outcomes were important prognostic factors. The differences were statistically significant between two groups (all P<0.05). Conclusion:pCR after NCRT is significantly correlated with long-time survival of patients with ESCC, and pCR after NCRT has an important value in predicting clinical prognosis for long-term survival of ESCC patients.