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.

Objective:To investigate the clinical effect and safety of camrelizumab combined with induction chemotherapy followed by concurrent chemoradiotherapy for patients with locally advanced nasopharyngeal carcinoma (NPC).Methods:A total of 24 patients with stage Ⅲ-IV A NPC were recruited prospectively to receive two cycles of camrelizumab combined with induction chemotherapy (docetaxel 75 mg/m 2+ cisplatin 25 mg/m 2 for three consecutive days) followed by concurrent chemoradiotherapy (prescription doses: 6 996 cGy in 33 fractions for PGTV and PGTV nd, 6 006 cGy in 33 fractions for PTV 1, 5 096 cGy in 28 fractions for PTV 2, and concurrent cisplatin chemotherapy with a dose of 75 mg/m 2). The short-term efficacy and adverse reactions were evaluated. Results:After induction therapy, nasopharyngeal lesions showed an objective response rate (ORR) of 91.6%, including 45.8% of complete response (CR) and 45.8% of partial response (PR); cervical lymph nodes showed an ORR of 95.8% (CR: 4.2%; PR: 91.6%). Seventeen patients accepted a reexamination under a nasopharyngoscope, and the biting biopsy result indicated that 13 patients among them had complete pathologic response. After concurrent chemoradiotherapy, nasopharyngeal lesions and cervical lymph nodes showed CR rates of 83.3% and 91.7% and PR rates of 16.7% and 8.3%, respectively. After the induction therapy, 13 patients with stage IV A NPC had ORR (PR) rates of 92.4% and 92.4%, respectively, at nasopharyngeal lesions and cervical lymph nodes. After concurrent chemoradiotherapy, the patients with stage IV A NPC had CR rates of 84.6% and 92.3% and PR rates of 15.4% and 7.7%, respectively, at nasopharyngeal lesions and cervical lymph nodes. Major adverse reactions include leukopenia, granulopenia, anemia, radioactive acute oropharyngeal mucositis and dermatitis, digestive tract reaction, fatigue, hypothyroidism, aminotransferase elevation, and reactive capillary hyperplasia. Conclusions:Camrelizumab combined with induction chemotherapy followed by concurrent chemoradiotherapy can achieve high short-term efficacy for patients with locally advanced nasopharyngeal carcinoma, without increasing the incidence of adverse reactions. Its long-term efficacy deserves further research.

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 study the clinical characteristics, diagnosis, complications and prognosis of neonatal varicella.Methods:From September 2008 to December 2019, the clinical data of hospitalized neonates with varicella in our hospital were retrospectively analyzed.Results:A total of 33 cases of neonatal varicella were reviewed, including 18 males and 15 females, 32 full-term infants and 1 premature infant. The gestational age (GA) was (38.8±1.2)w and birth weight (BW) was (3 670±247)g. The onset of the disease occurred at 14.0 (8.0,19.0)d and was diagnosed at 18.0 (11.5,23.0)d. The hospital stay duration was (8.1±3.7)(2~20)d. All mothers denied varicella history or varicella vaccination. Among the 33 infants, 29 had a history of varicella/zoster exposure. All 33 infants had typical rash and 25 had fever, body temperature (38.3±0.6) ℃ and duration (2.4±1.4) d. 13 cases were congenital varicella, 20 cases were acquired varicella. 24 cases abnormality of cardiac enzymes, 11 cases skin infection, 8 cases liver damage, 4 cases pneumonia, 6 cases granulocytopenia/agranulocytosis, 9 cases anemia, 4 cases sepsis and 1 case viral encephalitis were diagnosed. 20 infants received intravenous antiviral therapy (acyclovir), 17 were treated with antibiotics, 15 were given intravenous immunoglobulin (IVIG), 8 received both antiviral therapy and IVIG and 6 were treated with recombinant human granulocyte stimulating factor. 31 infants were cured and discharged. 2 infants were discharged after improvement of rashes. All infants reported complete recovery on telephone follow-up.Conclusions:Most neonatal varicella cases have a definite exposure history. Besides rashes, complications including pneumonia, liver damage, myocardial injury, granulocytopenia/agranulocytosis, viral encephalitis are common. Intravenous antiviral therapy with acyclovir and combined treatment of IVIG and symptomatic support can often achieve a good prognosis.

Objective:To construct a training program based on competency evaluation of clinical nursing teachers.Methods:From August 2019 to July 2020, based on Competency Evaluation Scale, through literature review and expert group discussion, the competency training program for clinical nursing teachers was constructed through expert consultation.Results:The effective recovery rates of the three rounds of expert inquiry were all 100%, the expert authority coefficient was 0.935 and the Kendall coordination coefficients of expert opinions were respectively 0.21, 0.27 and 0.35. The final training program included basic ability training module and advanced ability training module, including 3 modules, 14 projects, 25 courses and 3 modules, 8 projects and 8 courses, respectively.Conclusions:The clinical nursing teacher training program based on the competency evaluation scale is comprehensive and specific in content and it has good practicality, which provides a reference for the training of clinical nursing teachers.

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.

Objective:To investigate the correlation between radiation dose of the pelvic bone marrow of different anatomical bony sites and the incidence of neutrophil toxicity during the three-dimensional radiotherapy concurrent chemotherapy for cervical cancer.Methods:Clinical data of 117 cervical cancer patients who received three-dimensional radiotherapy concurrent chemotherapy from 2016 to 2018 were retrospectively analyzed. The dosimetric parameters included D mean, V 5Gy, V 10Gy, V 20Gy, V 30Gy, V 40Gy and V 50Gy. The correlation between the dosimetric parameters and the lowest neutrophil count was analyzed by linear regression analysis. Clinicopathological features and dosimetric parameters were included into the multivariate regression analysis model. Results:The incidence rates of neutrophil toxicity (grade 1-4) were 10.3%, 27.4%, 11.1% and 10.3%, respectively. The linear regression analysis showed that the D mean and V 50Gy of lumbosacral vertebrae (LS), the D mean, V 5Gy, V 10Gy, V 20Gy, V 30Gy, V 40Gy and V 50Gy of the ilium were significantly correlated with the grade 2-4 neutrophil toxicity ( P=0.035、<0.001、<0.001、=0.001、=0.003、=0.001、<0.001、<0.001、<0.001). Multivariate analysis demonstrated that the V 20Gy, V 30Gy and V 50Gy of the LS, the D mean, V 5Gy, V 10Gy, V 20Gy and V 30Gy of the ilium were significantly correlated with the grade 2-4 neutrophil toxicity ( P=0.046、0.038、0.049、0.041、0.039、0.029、0.036、0.029). Conclusion:During the process of three-dimensional radiotherapy concurrent chemotherapy for cervical cancer, the volume of medium-and high-dose of LS and the volume of low-and medium-dose of ilium are significantly correlated with the risk of neutrophil toxicity.

Objective:To explore the association of peripheral blood neutrophil lymphocyte ratio(NLR) with primary osteoporosis (POP) in Chinese elderly women.Methods:From December 2015 to April 2019, a total of 788 elderly women in Chongqing Three Gorges Central Hospital were included in this study.They were divided into three groups according to bone mineral density: 242 cases of osteopenia, 206 cases of normal bone mineral density and 340 cases of osteoporosis.Their height, weight, statuses of bone of left femoral neck and results of blood tests were recorded, and the values of BMI, NLR and OSTA were calculated.The SPSS statistics software was used to analyze the differences of parameters among the three groups.Logistic regression analysis was used to get significant independent related factors for osteoporosis.The relationship of NLR and OSTA with T-score of left femoral neck was confirmed by Pearson correlation test.ROC curves were used to define the values of NLR and OSTA in diagnosis of osteoporosis.Results:There were statistically significant differences in age(median values: 66, 68 and 70, χ 2=71.596, P<0.001), BMI(median values: 23.46, 24.04 and 25.415, χ 2=64.936, P<0.001) and NLR(median values: 1.97, 2.435 and 2.84, χ 2=106.218, P<0.001) among the three groups(all P<0.01). Logistic regression analysis demonstrated that age, BMI and NLR were all independent significant related factors.There was correlation of NLR, OSTA with T-score of left femoral neck.In diagnosis of osteoporosis, the cut-off value, maximum Youden index, sensitivity and specificity were 2.395, 0.299, 70.3%, 59.6% for NLR, and -1.315, 0.174, 73.6%, 43.5% for OSTA. Conclusion:NLR has intermediate sensitivity and specificity in screening POP in Chinese elderly women, and deserves future researches.