Objective:To report the clinical and genetic characteristics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) induced by a new homozygous mutation in the SACS gene, and to improve the clinicians′ recognition of the disease. Methods:Detailed nervous system physical examination was performed on the patient and his parents from a consanguineous family admitted to the Genetics and Metabolism Clinic of the Department of Neurology, the First Affiliated Hospital of Kunming Medical University in March 2022. The peripheral blood DNA of the patient and his parents was extracted, and whole exon sequencing (WES) was performed on the patient and his parents using second-generation sequencing technology. The mutation sites were verified by Sanger sequencing, and the mutation sites were analyzed by software.Results:The 18-year-old Han ethnic male patient developed a progressive stiffness of his bilateral lower limbs and gait unsteadiness since the age of 3. He had pyramidal tract sign in his bilateral lower limbs, cerebellar ataxia, pes cavus and hammer toes. Brain magnetic resonance imaging (MRI) showed symmetrical low signal of bilateral pons, cerebellar atrophy and thinning of corpus callosum in T 2WI and T 2 fluid attenuated inversion recovery (FLAIR) sequences. Neuroelectrophysiological examination showed sensory motor peripheral neuropathy. Ophthalmic examination revealed concomitant exotropia and ametropia in both eyes. WES revealed a homozygous variant of c.6958T>C (p.Tyr2320His) in exon 10 of the SACS gene of the patient, and his parents were heterozygous variant carriers confirmed by Sanger sequencing. The variant was classified as possibly pathogenic (PM1+PM2+PP3+PP4) according to the American Society for Medical Genetics and Genomics. The patient was clearly diagnosed as ARSACS caused by homozygous mutation of c.6958T>C in the SACS gene. Conclusions:A novel pathogenic variant (c.6958T>C) in the SACS gene identified in this study leads to the manifestation of ARSACS. The primary clinical manifestations include cerebellar ataxia, pyramidal tract signs, and sensorimotor peripheral neuropathy. Head MRI examination of T 2WI and T 2FLAIR sequences with symmetrical low signal on both sides of the pons helps to narrow down the scope of differential diagnosis.

Bronchiectasis has the characteristics of long course,gradual aggravation,easy recurrence and difficult to treat.The characteristics are similar to those arouse by incubative pathogenic factors.Based on the theory of incubative pathogenic factors,this disease is often related to the incubative pathogenic factors in the body's areas with deficient healthy qi,which occur at regular times.The etiology can be external,congenital,or internal.Treatment should focus on different characteristics of incubative pathogenic factors.Attention should be paid to clearing and dispersing in external pathogenic factors,while attention should be paid to supporting and promoting healthy qi in congenital pathogenic factors,and do not forget to remove internal pathogenic factors.

Objective:To explore the curative efficacy of Dingke Decoction in the treatment of post infectious cough based on the the real-world clinical data.Methods:Retrospective cohort study was conducted. 245 patients with cough after infection in the hospital of Jingan Chinese Medical Hospital from July 2021 to July 2022 were set as study objects. The fact that whether the patients with Dingke Decoction or not were divided into control group (90 cases, without Dingke Decoction) and treatment group (155 cases, with Dingke Decoction). By using propensity nearest neighbor 1:1 matching to balance the confounding factors before treatment, 56 cases were successfully matched in both groups. The control group was treated symptomatically according to the actual clinical situation, while the treatment group was treated with modified Dingke Decoction on the basis of symptomatic treatment in the control group. The treatment for both groups lasted for 2 weeks. TCM symptom scores and cough severity score were evaluated using the Leicester Cough Quality of Life Questionnaire (LCQ) before and after treatment. Levels of tumor necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6) were detected through ELISA; adverse reactions during the treatment were recorded, and the clinical efficacy was evaluated.Results:The total effective rate of the treatment group was 91.07% (51/56), while that of the control group was 76.79% (43/56), with a statistically significant difference between the two groups ( χ2=4.24, P=0.040). The daytime cough symptom score (1.03 ± 0.67 vs. 1.20 ± 0.66, t=7.40) and nighttime cough symptom score (0.74 ± 0.62 vs. 1.26 ± 0.54, t=6.27) in the treatment group were lower than those in the control group after treatment ( P<0.001). After treatment, the LCQ physiological (5.30 ± 0.79 vs. 4.78 ± 1.09, t=-2.44), psychological (5.33 ± 0.92 vs. 4.70 ± 1.12, t=-2.39), and social (5.23 ± 0.94 vs. 4.60 ± 0.81, t=-2.86) scores in the treatment group were higher than those in the control group ( P<0.05). After treatment, he treatment group serum IL-6 [(14.29 ± 3.94) ng/L vs. (19.99 ± 5.17) ng/L, t=4.80] and TNF-α [(36.23 ± 7.83) ng/L vs. (42.44 ± 7.63) ng/L, t=3.11] were lower than those in the control group ( P<0.01). The incidence of adverse reactions in the control group was 8.92% (5/56) and 5.36% (3/56), respectively, without statistical significance ( χ2=0.54, P=0.716). Conclusion:Based on the real-world research method, medicine Dingke Decoction can improve the clinical efficacy and the quality life of post infectious cough patients, and the mechanism may be related to reducing airway inflammation response.

Methods: Patients with dry eye who were treated in the Ophthalmology Ward and Outpatient Department of the First Hospital of Hunan University of Chinese Medicine from October 1, 2020, to October 30, 2021 were enrolled as the research participants in the study. They were assigned to two groups based on traditional Chinese medicine (TCM) syndrome types: heat stagnation in liver meridian pattern group and Qi-Yin deficiency pattern group. Healthy volunteers who underwent health check-ups in the Health Management Department were included as healthy group following the random number table method. The tears of the patients and the healthy volunteer participants were tested by high-performance liquid chromatography-mass spectrometry (LC-MS). The differential metabolites were screened out by multivariate statistical analysis, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment was performed on the differential metabolites. Finally, the association analysis of differential proteins and metabolites was conducted to verify and supplement the metabolites. Results: A total of 32 dry eye patients were enrolled, including 16 cases with heat stagnation in liver meridian pattern and 16 cases with Qi-Yin deficiency pattern. Fourteen healthy volunteers were included as healthy group. There were no significant differences in baseline characteristics among the three groups (P > 0.05). A total of 412 biomarkers were determined in Qi-Yin deficiency pattern group, mainly including lipids, lipid-like molecules, organic acids and their derivatives, organic heterocyclic compounds, and nucleosides and their analogues. For heat stagnation in liver meridian pattern group, 112 metabolites were determined, mainly including organic acids and their derivatives, lipids, and lipid-like molecules. The KEGG enrichment results of pathways and the relative content analysis of differential markers demonstrate that purine metabolism and caffeine metabolism pathways are common metabolic characteristics of all dry eyes. Among them, deoxyinosine monophosphate (dIMP) and 2-(formamido)-N1-(5-phospha-D-ribosyl) acetamidine can serve as their biomarkers. The main characteristics of Qi-Yin deficiency syndrome pattern were the significant enhancement of metabolic pathways such as lysine degradation, ovarian steroidogenesis, cholesterol metabolism, pyrimidine metabolism, and bile secretion (P < 0.05). Dry eye associated with the heat stagnation in liver meridian pattern is mainly characterized by inhibition of the valine, leucine, and isoleucine biosynthesis pathways (P < 0.05). Conclusion Metabolomics can be used as an effective basis for TCM syndrome classification. Different patterns of dry eye syndrome exhibit typical characteristics in the types and concentrations of metabolites, which correspond to the syndrome classification in TCM. This study initially confirms the rationality of TCM syndrome classification and provides significant reference for the mechanism of dry eye and drug development.

Objective:To explore the teaching experience of clinical teaching teachers in master of integrated traditional Chinese and western medicine nursing, so as to provide a reference for improving the training quality of master of integrated Chinese and western medicine nursing.Methods:From March to May 2022, a total of 14 clinical teaching teachers of integrated traditional Chinese and western medicine nursing in the First Affiliated Hospital of Hunan University of were enrolled using the objective sampling method and investigated by the semi-structured face-to-face interview. Content analysis was used to analyze the interview results.Results:Five themes were extracted, namely, the practice ability of nursing graduate students needs to be improved, the evaluation methods of clinical practice ability of graduate students need to be more diversified, teaching benefits teachers as well as students; difficulties of teaching (conflicts between teachers' clinical work and teaching, unclear orientation of postgraduate clinical practice learning) , hope to get support (improve scientific research ability, improve theoretical knowledge of traditional Chinese medicine, guarantee the clinical practice and study time of graduate students) .Conclusions:A variety of practice approaches should be provided for the training in master of integrated traditional Chinese and western medicine nursing graduate students, to improve students' clinical practice ability and professional identity, strengthen clinical teacher training, improve teachers' ability, and continuously improve the clinical practice training model and the quality of talent training for nursing graduate students.

Objective:To explore the safety and efficacy of radiofrequency in the treatment of overactive bladder(OAB).Methods:A prospective, multicenter, non-randomized controlled trial was conducted. Eligible patients were divided into test group and control group in Zhejiang Provincial People’Hospital, The First Affiliated Hospital of Wenzhou Medical University, and Sir Run Run Shaw Hospital affiliated to Zhejiang University School of Medicine from March 2019 to June 2020. Inclusion criteria: patients diagnosed with OAB, and bladder capacity>100ml. Exclusion criteria: pregnant and lactating women; patients with secondary OAB symptoms such as urinary tract obstruction; patients with uncontrolled urinary tract infection within 1 week; patients in stable stage by using other treatment methods; patients implanted with any nerve stimulator, cardiac pacemaker or implantable defibrillator; patients with malignant tumors, serious cardiovascular, cerebrovascular diseases, renal insufficiency or received BTX treatment in recent 12 months. The patients were allocated to test group and the control group in a ratio of 2∶1 according to the time sequence of the visit. The patients in the test group were treated with radiofrequency treatment. After entering the group, they were treated for 4 times at the 1st, 2nd, 7th and 8th week respectively. In the control group, the energy was turned off during the radiofrequency treatment. The patients were followed-up every week until the end of the 12th week. The treatment success rate [the average frequency of urination in 24 h was reduced more than 50% from the baseline or returned to the normal (≤8 times/day) or the average frequency of urgent urination in 24 h was reduced more than 50% from the baseline], the frequency of urination, urgent urination and nocturnal urination before and after treatment, the residual urine volume of the bladder, the quality of life (QOL) score and the occurrence of catheter related adverse events in two groups were compared.Results:114 patients were enrolled in the study, including 76 patients in the test group and 38 patients in the control group. There were no significant differences in the age [(44.2±12.8) vs. (41.7 ± 12.1) years old], male female ratio (13/63 vs. 4/34), average course of disease [2.0(1.2, 5.0) vs. 2.0 (1.0, 4.0) years], the frequency of urination[12.8 (10.6, 16.8) vs. 12.8 (10.3, 17.0) times], urgency urination [11.8(9.3, 15.8) vs. 11.8 (9.0, 17.0) times], nocturia [2.7 (1.3, 3.7) vs. 2.3(0.7, 3.3) times], residual urine volume of bladder [12.0 (3.0, 28.0) vs. 14.0 (3.7, 20.0) ml ] and the QOL score [5.0(4.0, 5.0) vs. 4.0(4.0, 5.0)]before the treatment between the two groups ( P>0.05). The treatment success rate in the test group was 76.3% (58/76), while 26.3% (10/38) in the control group, with a statistically significant difference ( P<0.01). There were significant differences between the test group and control group in the frequency of urination [9.7 (7.7, 12.0) vs. 12.9 (9.6, 15.7) times], urgent urination [7.3 (5.0, 10.0) vs. 11.7 (7.3, 15.3) times], nocturia [1.3 (0.7, 2.0) vs. 1.7 (1.0, 3.0) times] and the QOL score of the patients[3.0(1.0, 3.0) vs. 4.0(3.0, 4.5)]after the treatment(all P<0.05). The frequency of urination, urgency urination, nocturia, the residual urine volume and the QOL score in the test group were significantly improved ( P<0.05) after the treatment.The frequency of urination, nocturia, residual urine volume and the QOL score in the control group were improved ( P<0.05) after the treatment. 13 (11.4%) patients had catheter related adverse events. In the test group and the control group, there were 7 cases of macroscopic hemorrhage caused by the placement of instruments (5/76 vs. 2/38), 5 cases of acute urinary tract infection within 3 days (3/76 vs. 2/38), and 1 case of instrument breakage (catheter breakage) (0/76 vs. 1/38). There were no significant differences in the adverse events between the two groups ( P> 0.05). Conclusions:Radiofrequency treatment of OAB can effectively improve the symptoms of patients, improve the QOL of patients, and has low incidence of adverse events, with good efficacy and safety.

Objective:To investigate the expression of fibrinogen-like protein 1 (FGL1) in clear cell renal cell carcinoma (ccRCC) and its correlation with clinicopathological characteristics of patients with ccRCC.Methods:The clinicopathological data of 242 patients with ccRCC who were diagnosed and treated surgically from January 2015 to December 2018 were retrospectively analyzed. The cancerous tissues and paracancerous tissues (2 cm away from the edge of cancerous tissues) of patients were collected. The expression of FGL1 protein was detected by using immunohistochemistry, and the relative expression level of FGL1 mRNA was detected by using reverse transcription polymerase chain reaction (RT-PCR). Cox proportional risk model was used to make univariate and multivariate analysis of the influencing factors of progression-free survival (PFS).Results:The positive rate of FGL1 protein in ccRCC tissues was higher than that in paracancerous tissues [28.5% (69/242) vs. 2.1% (5/242)], and the difference was statistically significant ( χ2 = 65.34, P < 0.001); the relative expression level of FGL1 mRNA in ccRCC tissues was higher than that in paracancerous tissues (1.67±0.12 vs. 0.60±0.15), and the difference was statistically significant ( t = 25.33, P < 0.001). The expression of FGL1 was positively correlated with pathological staging ( r = 0.164, P = 0.011), renal vascular tumor thrombus ( r = 0.130, P = 0.043), regional lymph node metastasis ( r = 0.153, P = 0.018), and distant metastasis ( r = 0.160, P = 0.012). Univariate analysis showed that the tumor diameter, regional lymph nodes metastasis, pathological staging, distant metastasis, and FGL1 expression were factors influencing the PFS of ccRCC patients (all P < 0.05). Multivariate regression results showed that high expression of FGL1 ( HR = 11.679, 95% CI 7.432-15.673, P = 0.015), pathological staging of Ⅲ-Ⅳ ( HR = 13.654, 95% CI 8.765-18.761, P = 0.013), and distant metastasis ( HR = 11.387, 95% CI 7.662-14.831, P = 0.038) were independent risk factors for PFS in patients. Conclusions:FGL1 is highly expressed in ccRCC, which is correlated with pathological staging, renal vascular tumor thrombus, regional lymph nodes metastasis, and distant metastasis. The high expression of FGL1 is a risk factor affecting the prognosis of patients with ccRCC.

Objective:To investigate the clinical effect of cluster nursing on the prevention of perioperative urinary catheter associated urinary tract infection (CAUTI) in patients with spinal fracture.Methods:A retrospective case-control method was used to select 160 patients with spinal fracture admitted to the department of spinal cord injury in emergency care from January 2018 to March 2020 in the Department of Orthopaedics General Hospital of Chinese People′s Liberation Army as study subjects, 80 patients admitted to the department of spinal cord injury from January to December 2018 were set as the control group, and 80 patients admitted from January 2019 to March 2020 as the observation group. The control group was given standardized clinical nursing measures during the perioperative period, while the observation group was given cluster nursing measures. The duration of indwelling of catheters, the incidence of catheter reinsertion and the incidence of CAUTI were compared between the two groups.Results:The catheter indwelling time in the observation group was (3.37±0.64) days, lower than that in the control group (6.35±1.52) days. The incidence of catheter insertion and CAUTI was 5.00%(4/80), 3.80%(3/80) in the observation group, lower than 11.30%(9/80), 11.60%(13/80) in the control group. The differences were statistically significant ( χ2 values were -2.927, -2.654, all P<0.05). Conclusions:Cluster nursing intervention for patients with spinal fracture in the perioperative period can effectively shorten the catheter indwelling time, reduce the incidence of catheter re-insertion and the incidence of patients with CAUTI, significantly improve the quality of clinical care in the department, and have positive significance for the treatment and rehabilitation of patients.

Objective:To explore the current situation of college students′ risk behavior and its relationship with alexithymia.Methods:A total of 992 college students from two colleges in Jiangxi Province were investigated with evaluation scale for risk behaviors of teenagers and Toronto alexithymia scale. SPSS 17.0 software was used for descriptive statistics, correlation analysis and regression analysis.Results:Evaluation scale for risk behaviors showed that 15.2% of college students had at least one risk behavior factor scored more than 3, and 1.0% had at least one factor scored more than 4. The scores of bad habits and extroversion behavior question of boys((1.72±0.50), (1.61±0.56)) were significantly higher than those of girls ((1.66±0.38), (1.45±0.40), t=2.205, P=0.028, t=5.020, P<0.01), and the scores of introversion behavior question and academic maladjustment of girls ((2.13±0.56), (2.51±0.53)) were significantly higher than those of boys ((1.97±0.62), (2.39±0.63), t=-4.157, P<0.01, t=-3.282, P=0.001). The four factors of risk behaviors were positively correlated with each other (0.497-0.673), and the risk behaviors of college students were clustered. There were significant differences in the total score of risk behaviors ((2.28±0.43), (1.99±0.37), (1.71±0.36)), introversion behavior question ((2.60±0.54), (2.17±0.49), (1.80±0.50)), bad habits ((1.95±0.49), (1.73±0.38), (1.54±0.36)), academic maladjustment ((2.82±0.52), (2.57±0.50), (2.25±0.54)) and extroversion behavior question ((1.72±0.56), (1.57±0.46), (1.37±0.38)) in alexithymia group, possible alexithymia group and non alexithymia group( F=157.252, 172.027, 75.654, 85.424, 45.604, all P<0.01). Multiple stepwise regression analysis showed that alexithymia could predict college students′ risk behaviors. Conclusion:Taking effective measures to reduce the level of alexithymia can reduce the occurrence of risk behaviors of college students.

Objective:In May 2019, the 2018 version of Criteria and practical guidance for determination of brain death in children in China was published, which was revised by Brain Injury Evaluation Quality Control Center of National Health Commission, making the determination of brain death for pediatric patients in China more standardized and orderly.However, there is currently lacking of direction for the implementation of the above criteria for determining brain death to patients supported on extracorporeal membrane oxygenation(ECMO) in China.We successfully completed the determination of brain death and the organ transplantation(as a donor)for a pediatric case with severe brain injury and pneumorrhagia supported by VA-ECMO in our PICU, which provided clinical references for the revision of the guidelines for determination of brain death for pediatric patients in China. Methods:By referring to the international guidelines of Determination of Brain Death/ Death by Neurologic Criteria: The World Brain Death Project published in JAMA in August 2020, we performed a determination of brain death for a case of pediatric patient with severe brain injury and pneumorrhagia supported by VA-ECMO(blood flow 720 to 750 ml/min, gas flow 600 mL/min, oxygen concentration 65% to 70%)in our PICU. Results:The results of the determination of brain death included: Glasgow coma scale was 2T, all brainstem reflexes disappeared, three confirmation tests(electroencephalography, transcranial Doppler, short latency somatosensory evoked potential)all met the criterias for determination of brain death, apnea test(AT)showed PaCO 2>60 mmHg and elevated >20 mmHg than that before AT.We performed twice determination of brain death, interval time was >12 h. Finally, we successfully completed the determination of brain death and the organ transplantation(as a donor)for the case. Conclusion:The successful experience in the determination of brain death in the pediatric patient with severe brain injury and pneumorrhagia supported by VA-ECMO will provide clinical references for the revision of the guidelines for determination of brain death for pediatric patients in China.