ObjectiveTo investigate the awareness and clinical practice of guidelines for the prevention and treatment of chronic hepatitis B （2022 edition） among clinicians. MethodsFrom July 19 to December 31， 2024， a self-designed electronic questionnaire was distributed via the WeChat mini program to collect related data from 1 588 clinicians nationwide， including their awareness and practice based on 18 questions regarding testing and referral， diagnosis and treatment， and follow-up. ResultsAmong all respondents， only 350 clinicians correctly understood all the updated key points of antiviral indications and treatment for special populations in the 2022 edition of guidelines for the prevention and treatment of chronic hepatitis B， with an overall awareness rate of 22.0%. Only 20% ‍—‍ ‍40% of the patients with positive HBV DNA and an age of >30 years receive antiviral therapy， while 80% ‍—‍ ‍100% of the patients with positive HBV DNA and a family history of hepatitis B cirrhosis or hepatocellular carcinoma receive antiviral therapy. The median follow-up rates at 1 year， 3 years， and 5 years were 67.5% 57.5% and 47.5%，respectively， showing a trend of gradual reduction， which might be associated with the influencing factors such as insufficient time for follow-up management by clinicians， insufficient awareness of the disease among patients， and poor adherence to follow-up. ConclusionThere is a gap between the awareness and practice of guidelines for the prevention and treatment of chronic hepatitis B （2022 edition） among clinicians. It is recommended to further strengthen training and focus on the whole process of “detection， diagnosis， treatment， and management” for patients with chronic hepatitis B in healthcare institutions， in order to promote the implementation of the guidelines.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3). METHODS: Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3. RESULTS: The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant. CONCLUSION The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.
Humans ; Child ; Mutation ; Autoimmune Diseases of the Nervous System/genetics* ; Nervous System Malformations/genetics*

OBJECTIVE To study the effects of disodium cantharidinate on the pharmacokinetic behavior of capecitabine in rats. METHODS Rats were randomly divided into two control groups and two experimental groups with 6 rats in each group. Two control groups were intraperitoneally injected with normal saline， and two experimental groups were intraperitoneally injected with Disodium cantharidinate injection of 0.5 mL/kg， for 7 consecutive days. Eight days after medication， control group 1 and experimental group 1 were given capecitabine 5 mg/kg intragastrically， while control group 2 and experimental group 2 were given capecitabine 5 mg/kg intravenously. Blood samples were collected at different time points after administration. After extraction with ethyl acetate， the concentration of capecitabine in rat plasma was determined by UPLC-MS/MS method using tolbutamide as the internal standard. The pharmacokinetic parameters were calculated by DAS 2.0 software. RESULTS Compared with control group 1， MRT0－∞， cmax， AUC0－30 h， AUC0－∞ and F of experimental group 1 were increased significantly， while CLz/F was decreased significantly （P＜0.01）. Compared with control group 2， t1/2， MRT0－30 h， MRT0-∞， AUC0－30 h and AUC0－∞ of experimental group 2 were increased significantly （P＜0.01）. CONCLUSIONS Disodium cantharidinate can increase the plasma exposure of capecitabine in rats， improve its oral bioavailability， prolong the average residence time， and reduce its clearance rate.

Objective: To examine the impact of physical intelligence teaching on the function of children s sensory integration, so as to provide reference for promoting the development of sensory integration system. Methods: From February to May 2023, the intervention was implemented for 12 weeks among 136 children aged 4-5 (68 in the intervention group and 68 in the control group). The intervention group received situational and game based physical intelligence teaching, the control group received sports game teaching according to the original curriculum objectives of the kindergarten. Intervention was administered 3 times a week for 40 minutes each time. The sensory integration ability of the intervention group and the control group were evaluated before and after the intervention with Chi square test and t test. Results: The vestibular sensation, proprioception and tactile sensation of between boys and girls in the intervention group were significantly improved compared with before intervention (boys：44.14±11.52 vs. 53.34± 9.49 ，44.57±12.76 vs. 50.54±11.86，49.31±12.18 vs. 55.00±10.24,girls：46.00±11.01 vs. 54.58±10.06，48.79±13.17 vs. 53.64±11.97，52.67±11.67 vs. 56.91±10.42, t =-3.24，-2.49，-2.09，-5.24，-12.94，-2.56， P <0.05). There was no significant difference in vestibular sensation between boys and girls in the control group (boys：45.91±11.66 vs. 46.31± 11.20，girls：48.27±13.56 vs. 48.45 ±13.54, t =-0.87，-0.07， P >0.05), but there was a significant improvement in proprioception and tactile sensation in both boys and girls (boys：46.63±11.76 vs. 48.06±11.69，51.63±11.98 vs. 52.40±12.18，girls：50.45±12.16 vs. 51.67± 12.03 ，53.36±12.48 vs. 54.39±12.57， t =-3.36，-2.08，-4.66，-2.86， P <0.05). After the intervention, compared with the control group, the vestibular sensation of both boys and girls significantly improved ( t=2.83, 2.08, P <0.05), with exception of proprioception and tactile sensation ( t =0.88,0.67,0.97,0.88, P >0.05). In the experimental group, the number of normal boys increased from 12 to 24, while the number of dysfunctional boys decreased from 23 to 11, with a statistically significant difference ( χ 2=11.53, P <0.01). There was no statistically significant difference in sensory integration in boys of the control group before and after the experiment ( χ 2= 1.10 , P >0.05). After intervention,the number of normal girls in the experimental group increased from 15 to 27, while the number of dysfunctional girls decreased from 18 to 6, with a statistically significant difference ( χ 2=10.39, P < 0.05 ). There was no statistically significant difference in sensory integration in girls from the control group before and after the experiment ( χ 2=2.08, P > 0.05 ). Conclusion Physical intelligence teaching can effectively improve children s sensory integration ability, especially for vestibular function.

Objective:To observe any effect of repeated transcranial magnetic stimulation (rTMS) in the treatment of diabetic peripheral neuropathic pain (DPNP).Methods:Eighty-six persons with type 2 diabetes mellitus and DPNP were randomly divided into an observation group and a control group, each of 43. Both groups were given basic treatment to control plasma glucose and blood pressure, while the observation group was additionally provided with daily 10Hz rTMS of the primary motor cortex (M1 area) of the non-dominant hand 5 days a week for 4 weeks. Before and after the treatment, pain in both groups was evaluated using a visual analog scale (VAS) and the Patient′s Global Impression Change scale (PGIC). The motor conduction velocity (MCV) and sensory conduction velocity of the median and the common peroneal nerves were also tested.Results:After treatment, the average VAS pain rating and PGIC score of the observation group were significantly lower than the control group′s averages and those before treatment. The observation group′s treatment effectiveness rate (79.07%) was then much better than that of the control group (23.26%). After the treatment, the average MCV of the median and common peroneal nerves of the observation group (47.65±1.94 m/s and 46.98±3.26 m/s, respectively) were significantly faster than before treatment, and those of the control group.Conclusions:rTMS based on routine intervention can significantly relieve DPNP and promote the recovery of injured nerves, bettering diabetics′ physical condition and life quality.

Objective:To explore the clinical characteristics and related risk factors of senile degenerative valvular heart disease(SDHVD), and to provide clinical basis for early prevention intervention of SDHVD.Methods:Clinical data of 1568 elderly patients ≥60 years old hospitalized in our hospital from January 2022 to June 2022 were collected to compare the clinical characteristics and analyze the risk factors of patients in the degenerative heart valve disease group and the non-degenerative heart valve disease group.Results:Age(per 10-year increase)( OR=2.107, 95% CI=1.518-2.924), blood calcium( OR=8.934, 95% CI=2.023-39.447), total cholesterol( OR=1.167, 95% CI=1.044-1.304), female( OR=2.098, 95% CI=1.305-3.374), and reduced mean platelet volume(MPV)( OR=0.818, 95% CI=0.682-0.981)were independent risk factors for the development of SDHVD( P<0.05).Post hoc two-by-two comparisons showed that different degrees of calcification were associated with age( P<0.05); apoA, UA, P, and FT3 were statistically significant in the no-calcification group compared with the control group( P<0.05); E/e′, PASP, and NT-ProBNP were statistically significant in the moderate calcification group compared with the control group( P<0.05); TC was statistically significant in the no-calcification and mild calcification groups compared with the control group There was statistical significance( P<0.05)compared with the control group. Conclusions:Age, blood calcium, total cholesterol, female, and reduced MPV are independent risk factors for SDHVD.

Objective:To report the clinical and genetic characteristics of autosomal dominant cutis laxa type 3 caused by ALDH18A1 mutation, and therefore to further understand this rare disease.Methods:High-precision full-exon sequencing was performed for the patient from the Department of Endocrinology and Genetic Metabolism, Children′s Hospital of Chongqing Medical University and genotype-phenotype correlation was summarized. Relevant literature was also reviewed.Results:A 9-month-old boy was admitted with complaint of " development retardation for 9 months, cough for 3 days" , accompanied by skin laxity, special features, skeletal malformation, tracheal bronchus, inguinal hernia, gastroesophageal reflux, and abnormal creases on palms. The heterozygous variation of ALDH18A1 c. 274C>G(p.Leu92Val) on chromosome 10 was revealed using high-precision full-exon sequencing. Together with imaging and metabolomics results, the diagnosis of cutis laxa type 3 was determined. The clinical presentations of this disease are variable, encompassing skin, bone, joint, and neuromuscular system.Conclusion:For suspected pediatric case, it is very important to evaluate the clinical manifestations and metabolic index at regular intervals, and to identify the molecular basis of the disease with gene sequencing early on.

Objective: To learn the current status of scoliosis of children and its influencing factors, so as to provide reference for the prevention and treatment. Methods: A total of 1 500 students selected from 4 kindergartens and 3 primary schools in Shijiazhuang were tested by static posture assessment and Adams flexion test to get the values,and self designed questionnaire was designed to investigate the related factors. Results: Totally 78 students were found with scoliosis, accounting for 5.47%. Among them, 17 boys (2.31% in boys) and 61 girls (8.85% in girls) were found with scoliosis, and the differences were of statistical significance ( P <0.01). And the main risk factors of scoliosis in children included holding too much, less crawling, poor sitting and standing posture, lack of vitamin D and calcium, long term unilateral exertion sports, insufficient exercise time, improper height of table and chair, as well as being girl( OR =1.58, 0.58, 2.22, 2.13, 3.02, 2.18, 2.14, 2.86, 3.04, 2.59, 1.16, P <0.05). Conclusion The detection rate of scoliosis in children is very high,the education department and parents should pay more attention for prevention, scientific rearing methods can effectively reduce the incidence of scoliosis in children.

Objective:To explore the protective effect of Shen’an decoction on cisplatin induced renal injury in rats by regulating TLR4/NF-κB signaling pathway. Methods:Sixty SD rats were randomly divided into blank group, model group, positive control group, high dose Shen’an Decoction group, medium dose Shen’an Decoction group and low dose Shen’an Decoction group, with 10 rats in each group. Except the blank group, the other groups were intraperitoneally injected with cisplatin 7.5 mg/kg to prepare the acute kidney injured rat model. After the modeling, the high, medium and low dose groups of Shen’an Decoction were gavaged with 0.698, 1.395 and 2.790 g/ml Shen’an Decoction respectively, and the positive control group was gavaged with benazepril hydrochloride suspension of 5 mg/kg, once a day for 14 days. The kidney histopathological changes of rats in each group were observed by HE staining. The content of BUN, creatinine(CR), Cystatin C (Cys-C), TNF-α, and IL-6 in serum were detected by ELISA. The expression of TLR-4, NF-κB p65, myeloid differentiation factor (MyD88), and tumor necrosis factor receptor related factor 6 (TRAF-6) in renal tissue were detected by Western blot. Results:Compared with the model group, the growth condition of rats in each dose group of Shen’an Decoction was significantly improved ( P<0.05), and the kidney coefficient was significantly decreased ( P<0.05). The serum levels of BUN, Cr, Cys-C, TNF-α, IL-6 of rats in each dose group of Shen’an Decoction were significantly decreased ( P<0.05). The expression of TLR-4 (0.54 ± 0.07, 0.52 ± 0.09, 0.41 ± 0.04 vs. 0.86 ± 0.06), NF-κB (0.74 ± 0.02, 0.72 ± 0.06, 0.67 ± 0.05 vs. 0.93 ± 0.03), MyD88 (0.86 ± 0.02, 0.82 ± 0.03, 0.61 ± 0.02 vs. 1.04 ± 0.03), and TRAF-6 (0.65 ± 0.04, 0.58 ± 0.08, 0.54 ± 0.07 vs. 0.90 ± 0.06) in kidney tissue of rats in each dose group of Shen’an Decoction was significantly decreased ( P<0.05). Conclusion:Shen’an Decoction can protect the renal function of rats by inhibiting TLR4/NF-κB signaling pathway and alleviating the pathological changes of renal injury induced by cisplatin.