Objective:To summarize the clinical phenotype and genetic features of patients with relapsing encephalopathy with cerebellar ataxia (RECA) caused by ATP1A3 gene R756 variants. Methods:A retrospective analysis was performed on patients carrying the ATP1A3 gene R756 variants, identified by whole-exome sequencing of family members, at Capital Center for Children′s Health, Capital Medical University and Children's Medical Center, Peking University First Hospital from August 2005 to February 2024. Their clinical, laboratory, neuroimaging, electrophysiological and genetic characteristics were summarized. Results:A total of 13 RECA patients were enrolled in this study, including 8 males and 5 females. The age of onset was 8 months to 5 years, with a median age of onset of 18 months. All of 13 patients presented paroxysmal episodes of neurological decompensations triggered by fever and residual symptoms following the acute phase. During acute attack stage, ataxia was observed in all 13 cases, muscle weakness in 12 cases, dysarthria in 12 cases, altered consciousness in 10 cases, dysphagia in 10 cases, dystonic episodes in 4 cases, abnormal eye movement in 2 cases, choreoathetosis in 2 cases, and epileptic seizures in 1 case. All 13 patients had residual symptoms during the nonparoxysmal period, of whom 9 patients had ataxia, 9 patients had dysarthria, 4 patients had dystonia, 3 patients had cognitive disorders, and 1 patient had epileptic seizures. All 13 cases had ATP1A3 missense variants, and variant c.2266C>T/p.R756C was found in 6 cases, c.2267G>A/p.R756H in 5 cases, and c.2267G>T/p.R756L in 2 cases. Nine cases carried de novo variants, 4 with inherited variants. Conclusions:RECA caused by variants of ATP1A3 in residue 756 typically presents with an acute onset during infancy or early childhood, precipitated by febrile episodes and characterized by recurrent episodes of ataxia, with bulbar paralysis, muscle weakness and altered consciousness. Recurrence is common, and the most common persistent symptoms are cerebellar ataxia and dysarthria. A few patients have cognitive impairment. Three types of ATP1A3 gene variants R756C, R756H and R756L are related with RECA, and R756C is the most common variant.

Objective:To observe the clinical efficacy of Xinyue Decoction combined with fluoxetine hydrochloride in the treatment of cognitive impairment of senile depression.Methods:A randomized controlled trial study was conducted. Totally 116 elderly patients with depression accompanied by cognitive impairment were set as observation subjects, and were divided into a control group and an experimental group using random number table method, with 58 patients in each. The control group received treatment with fluoxetine hydrochloride capsules, while the experimental group was administered Xinyue Decoction Granules in addition to the treatment regimen of the control group. The treatment lasted for 8 weeks for both groups. Comparison was made between the two groups regarding the changes in TCM syndrome scores. Hamilton Depression Scale (HAMD-24) was used to assess the degree of depression, and Montreal Cognitive Assessment (MoCA BJ) was used to assess cognitive ability; the serum levels of brain-derived neurotrophic factor (BDNF), IL-1β, IL-6 and TNF-α were detected by ELISA; the adverse reactions during treatment were observed and recorded, and the clinical efficacy was evaluated.Results:The total effective rate of TCM syndromes was 90.4% (47/52) in the experimental group and 75.5% (40/53) in the control group, with statistical significance ( χ2=4.11, P<0.05); the total effective rate of MoCA-BJ was 76.9% (40/52) in the experimental group and 58.5% (31/53) in the control group, with statistical significance ( χ2=4.61, P<0.05); the total effective rate of HAMD-24 was 88.5% (46/52) in the experimental group and 71.7% (38/53) in the control group, with statistical significance ( χ2=4.07, P<0.05). After treatment, the TCM syndrome score, HAMD-24 and MoCA-BJ scores of the experimental group were lower than those in the control group ( t=-3.51, -5.11, 2.39, P<0.01 or P<0.05); the level of serum BDNF [(10.49±1.76) ng/L vs. (9.61±1.85) ng/L, t=2.28] in the observation group was higher than that of the control group ( P<0.05), and the levels of IL-1β, IL-6 and TNF-α were lower than those in the control group ( t=-2.50, -2.46, -2.18, P<0.05). During the treatment, the incidence of adverse reactions was 5.77% (3/52) in the experimental group and 7.55% (4/53) in the control group, without statistical significance ( χ2=0.13, P>0.05). Conclusion:Xinyue Decoction combined with fluoxetine hydrochloride can reduce the degree of depression in elderly patients with cognitive impairment of depression, improve the cognitive ability of patients and clinical efficacy.

Objective:To explore the application efficacy of the continuous oral care program led by dental nurses in adolescent patients with fixed orthodontics and to provide a reference for continuous care to enhance the oral health level of patients.Methods:A randomized controlled trial was carried out in the Orthodontic Department of Shanghai Stomatological Hospital from June to December 2022. A total of 132 adolescent patients with fixed orthodontics were selected through the convenience sampling method and divided into the experimental group and the control group by the random number table method, with 66 patients in each group. The experimental group was provided with the continuous oral care program led by dental specialist nurses, while the control group received routine care. The intervention lasted for 12 months. The Oral Health Impact Scale, the Oral Health Self-Management Ability Questionnaire, and the plaque index were utilized to assess the intervention effect before and after the intervention.Results:A total of 65 participants in the experimental group completed the study, with an age of (14.41 ± 1.60) years, comprising 32 males and 33 females. In the control group, 64 participants completed the study, with an age of (14.15 ± 1.69) years, including 28 males and 36 females. Prior to intervention, there were no statistically significant differences in scores for oral health self-management ability, Oral Health Impact Profile-14, or total plaque index between the experimental and control groups (all P>0.05). Following intervention, the score for oral health self-management ability in the experimental group was (77.42 ± 11.70) points, significantly higher than (70.47 ± 17.49) points of the control group ( t = 2.65, P<0.05). Additionally, the score on the Oral Health Impact Profile-14 for the experimental group was (16.40 ± 3.45) points and their total plaque index was measured at 1.68 ± 0.55 both significantly lower than those recorded in the control group at (18.16 ± 3.79) points and a total plaque index of 1.92 ± 0.47 respectively ( t = - 2.75, - 2.55, both P<0.05). Conclusions:The implementation of the continuous oral care program led by dental specialist nurses is conducive to improving the oral health self-management ability of adolescent patients with fixed orthodontics, reducing dental plaque, improving oral cleanliness, and improving the oral health-related quality of life of patients.

Objective:To explore the application efficacy of the continuous oral care program led by dental nurses in adolescent patients with fixed orthodontics and to provide a reference for continuous care to enhance the oral health level of patients.Methods:A randomized controlled trial was carried out in the Orthodontic Department of Shanghai Stomatological Hospital from June to December 2022. A total of 132 adolescent patients with fixed orthodontics were selected through the convenience sampling method and divided into the experimental group and the control group by the random number table method, with 66 patients in each group. The experimental group was provided with the continuous oral care program led by dental specialist nurses, while the control group received routine care. The intervention lasted for 12 months. The Oral Health Impact Scale, the Oral Health Self-Management Ability Questionnaire, and the plaque index were utilized to assess the intervention effect before and after the intervention.Results:A total of 65 participants in the experimental group completed the study, with an age of (14.41 ± 1.60) years, comprising 32 males and 33 females. In the control group, 64 participants completed the study, with an age of (14.15 ± 1.69) years, including 28 males and 36 females. Prior to intervention, there were no statistically significant differences in scores for oral health self-management ability, Oral Health Impact Profile-14, or total plaque index between the experimental and control groups (all P>0.05). Following intervention, the score for oral health self-management ability in the experimental group was (77.42 ± 11.70) points, significantly higher than (70.47 ± 17.49) points of the control group ( t = 2.65, P<0.05). Additionally, the score on the Oral Health Impact Profile-14 for the experimental group was (16.40 ± 3.45) points and their total plaque index was measured at 1.68 ± 0.55 both significantly lower than those recorded in the control group at (18.16 ± 3.79) points and a total plaque index of 1.92 ± 0.47 respectively ( t = - 2.75, - 2.55, both P<0.05). Conclusions:The implementation of the continuous oral care program led by dental specialist nurses is conducive to improving the oral health self-management ability of adolescent patients with fixed orthodontics, reducing dental plaque, improving oral cleanliness, and improving the oral health-related quality of life of patients.

Objective:To summarize the clinical phenotype and genetic features of patients with relapsing encephalopathy with cerebellar ataxia (RECA) caused by ATP1A3 gene R756 variants. Methods:A retrospective analysis was performed on patients carrying the ATP1A3 gene R756 variants, identified by whole-exome sequencing of family members, at Capital Center for Children′s Health, Capital Medical University and Children's Medical Center, Peking University First Hospital from August 2005 to February 2024. Their clinical, laboratory, neuroimaging, electrophysiological and genetic characteristics were summarized. Results:A total of 13 RECA patients were enrolled in this study, including 8 males and 5 females. The age of onset was 8 months to 5 years, with a median age of onset of 18 months. All of 13 patients presented paroxysmal episodes of neurological decompensations triggered by fever and residual symptoms following the acute phase. During acute attack stage, ataxia was observed in all 13 cases, muscle weakness in 12 cases, dysarthria in 12 cases, altered consciousness in 10 cases, dysphagia in 10 cases, dystonic episodes in 4 cases, abnormal eye movement in 2 cases, choreoathetosis in 2 cases, and epileptic seizures in 1 case. All 13 patients had residual symptoms during the nonparoxysmal period, of whom 9 patients had ataxia, 9 patients had dysarthria, 4 patients had dystonia, 3 patients had cognitive disorders, and 1 patient had epileptic seizures. All 13 cases had ATP1A3 missense variants, and variant c.2266C>T/p.R756C was found in 6 cases, c.2267G>A/p.R756H in 5 cases, and c.2267G>T/p.R756L in 2 cases. Nine cases carried de novo variants, 4 with inherited variants. Conclusions:RECA caused by variants of ATP1A3 in residue 756 typically presents with an acute onset during infancy or early childhood, precipitated by febrile episodes and characterized by recurrent episodes of ataxia, with bulbar paralysis, muscle weakness and altered consciousness. Recurrence is common, and the most common persistent symptoms are cerebellar ataxia and dysarthria. A few patients have cognitive impairment. Three types of ATP1A3 gene variants R756C, R756H and R756L are related with RECA, and R756C is the most common variant.

Exercise therapy is an important part of the comprehensive treatment of peripheral vascular diseases, including walking, high-intensity intermittent exercise, resistance exercise and other forms. This article reviews the intensity (exercise load, severity of claudication during exercise, increase of exercise volume) and duration (duration of each exercise, exercise rest ratio, weekly exercise frequency, duration of treatment course) of exercise, and points out that medical and nursing staff should formulate personalized "exercise prescriptions" according to patients' tolerance, and provide personalized nursing guidance to patients, so that patients with peripheral vascular diseases can obtain great benefits in exercise therapy.

Objective:To investigate the safety and feasibility of the CHESS endoscpic ruler (CHESS ruler), and the consistency between the measured values and the interpretation values by endoscopic physician experience.Methods:From January 2021 to January 2022, a total of 105 liver cirrhosis patients with portal hypertension were prospectively enrolled from General Hospital, Xixia Branch Hospital, Ningnan Hospital of People′s Hospital of Ningxia Hui Autonomous Region (29 cases), and the First People′s Hospital of Yinchuan (25 cases), General Hospital of Ningxia Medical University (18 cases), Wuzhong People′s Hospital (10 cases), the Fifth People′s Hospital of Ningxia Hui Autonomous Region (10 cases), Shizuishan Second People′s Hospital (6 cases), Yinchuan Second People′s Hospital (5 cases), and Zhongwei People′s Hospital (2 cases) 8 hospitals. The clinical characteristics of all the patients, including gender, age, nationality, etiolog of liver cirrhosis, and Child-Pugh classification of liver function were recorded. A big gastroesophageal varices was defined as diameter of varices ≥5 mm. Endoscopist (associated chief physician) performed gastroscopy according to the routine gastroscopy procedures, and the diameter of the biggest esophageal varices was measured by experience and images were collected, and then objective measurement was with the CHESS ruler and images were collected. The diameter of esophageal varices of 10 randomly selected patients (random number table method) was determined by 6 endoscopists (attending physician or associated chief physician) with experience or measured by CHESS ruler. Kappa test was used to test the consistency in the diameter of esophageal varices between measured values by CHESS ruler and the interpretation values by endoscopic physician experience.Results:Among 105 liver cirrhosis patients with portal hypertension, male 65 cases and female 40 cases, aged (54.8±12.2) years old, Han nationality 82 cases, Hui nationality 21 cases and Mongolian nationality 2 cases. The etiology of liver cirrhosis included chronic hepatitis B (79 cases), alcoholic liver disease (7 cases), autoimmune hepatitis (7 cases), chronic hepatitis C (2 cases), and other etiology (10 cases). Liver function of 32 cases was Child-Pugh A, Child-Pugh B 57 cases, and Child-Pugh C 16 cases. All 105 liver cirrhosis patients with cirrhotic portal hypertension were successfully measured the diameter of gastroesophageal varices by CHESS ruler, and the success rate of application of CHESS ruler was 100.0% (105/105). The procedure time from the CHESS ruler into the body to the exit of the body after measurement was (3.50±2.55) min. No complications happened in all the patients during measurement. Among 105 liver cirrhosis patients with cirrhotic portal hypertension, 96 cases (91.4%) were recognized as big gastroesophageal varices by the endoscopists. Totally 93 cases (88.6%) were considered as big gastroesophageal varices by CHESS ruler. Eight cases were recognized as big gastroesophageal varices by the endoscopist, however not by the CHESS ruler; 5 cases were recognized as big gastroesophageal varices by the CHESS ruler, but not by the endoscopists; 4 cases were not recognized as big gastroesophageal varices both by the endoscopists and CHESS ruler; 88 cases were recognized as big gastroesophageal varices both by the endoscopists and CHESS ruler. The missed diagnostic rate of big gastroesophageal varices by the endoscopists experience was 5.4% (5/93), and the Kappa value of consistency coefficient between the measurement by the CHESS ruler and the interpretation by endoscopists experience was 0.31 (95% confidence interval 0.03 to 0.60). The overall Kappa value of consistency coefficient by 6 endoscopists measured by CHESS ruler in big gastroesophageal varices diagnosis was 0.77 (95% confidence interval 0.61 to 0.93).Conclusion:As an objective measurement tool, CHESS ruler can make up for the deficiency of subjective judgment by endoscopists, accurately measure the diameter of gastroesophageal varices, and is highly feasible and safe.

Objective A simple,specific and rapid LC-MS/MS method was established to determine flumatinib and its two major metabolites in human plasma for clinical therapeutic drug monitoring.Methods The determination was performed on an ACQUITY UPLC HSS T3 column(2.1 mm×50 mm,1.8 μm)with mobile phases consisting of acetonitrile and 10 mmol·L-1 ammonium formate(containing 0.1%formic acid)with gradient elution at the flow rate of 0.5 mL·min-1.The elution time was 6 min.The temperature of the column was 38℃.The ion source was electrospray ion source and the scanning mode was multiple reaction monitoring scanning in positive ion mode.Results The mass concentrations of flumatinib and its metabolites(flumatinib M1 and flumatinib M3)have a good linear relationship within the concentration range investigated.The precision and stability of the method are good.The precision is less than 15%,and the relative deviation is within±15%.The extraction recoveries of flumatinib and its metabolites approach nearly 100%.Conclusion The method is simple and sensitive,and can accurately determine the plasma concentration of flumatinib and its metabolites,providing a basis for clinical rational drug use.

Objective:To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants.Methods:Data of 6 epilepsy patients with IRF2BPL gene variants seen from May 2017 to September 2020 in the Department of Pediatrics of Peking University First Hospital were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:A total of 6 patients with IRF2BPL gene variants (1 boy and 5 girls) were identified. The age of seizure onset was from 3.5 to 7.0 months. Epileptic spasms were observed in 6 patients, tonic seizures and tonic-spasms were observed in 1 patient and focal seizure was observed in 1 patient. All 6 patients presented with developmental delay, 5 patients presented with hypotonia, and 2 patients presented with dysphagia. Microcephaly,nystagmus,chorea and athetosis were observed in 1 patient. The electroencephalography (EEG) showed slow background activity in 2 patients. Hypsarrhythmia was observed in all 6 patients. Focal epileptic discharges were observed in 2 patients. Epileptic spasms were monitored in all 6 patients. Focal seizure and tonic-spasm were monitored in 2 patients respectively. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and dysplasia of the corpus callosum in 1 patient, delayed myelination in 2 patients and normal in 3 patients. Two patients had missense variants c.1280C>T/p.L474F and c.1420C>T/p.S427L, 3 patients had frameshift variants c.232delG/p.V78Sfs*73, c.244del/p.A82Pfs*70 and c.283-308del/p.Ala95Thrfs*29, 1 patient had non-frameshift deletion variant c.1453-c.1455delTTC/p.F485del, and all of the 6 cases had de novo variants. All patients were diagnosed with infantile spasms. The last follow-up age ranged from 1 year to 3.8 years. Four patients achieved seizure-free and 2 patients still had frequent seizures after the treatment with antiepileptic drugs (adrenocorticotropic hormone, topiramate, and vigabatrin).Conclusions:IRF2BPL gene variants are mainly de novo. The age of seizure onset is mainly in infancy, and epilepsy and developmental delay are the main clinical manifestations. Infantile spasm is the main phenotype, some patients have hypotonia and dysphagia. Cerebral atrophy can be observed in a few patients.

Objective:To analyse the epidemic features and programs of control on tuberculosis (TB) in China from 1990 to 2017 to provide references and evidence on prevention and control of the disease.Methods:We used data from the Global Burden of Disease Study 2017 to analyse the trends of incident and death cases of TB in China from 1990 to 2017.Results:In 2017, there were an estimated 831.0 thousand (age-standardized incidence: 54.18 per 100 000 population) incident cases and 39.3 thousand (age-standardised mortality: 2.17 per 100 000 population) deaths of TB in the country. The incident cases and deaths of TB decreased by 51.05 % and 76.24 % compared with the numbers in 1990, respectively. The average annual declining rates on incident cases and deaths of TB were 2.61 % and 5.18 %, respectively, from 1990 to 2017. The number of incident cases of TB decreased from 833.6 thousand in 2016 to 831.0 thousand in 2017 (decreased by 0.31 %). The number of deaths of TB decreased from 40.7 thousand in 2016 to 39.3 thousand in 2017 (decreased by 3.44 %). The number of incident cases and deaths of drug-sensitive TB showed a declining trend from 1990 to 2017. However, the number of incident cases and deaths showed first increased and then decreased trends for both multidrug-resistant TB (MDRTB) and extensively drug-resistant TB (XDRTB) in the same period. The number of incident cases of XDRTB increased from 2 979 in 2016 to 3 018 in 2017, with an increasing rate by 1.32 %. The number of deaths of XDRTB increased from 819 in 2016 to 829 in 2017, with an increase rate by 1.22 %. Conclusions:China made substantial progress in reducing both the TB incidence and mortality from 1990 to 2017 but the rate of decline became slow in the later years. We noticed that the increase of TB caused by XDR-TB had been increasing which called for special attention.