[Analysis on personal protection in occupational population at high risk for brucellosis and influencing factor in China].

Objective: To understand the current status of personal protection in occupational population at high risk for brucellosis in China and provide evidence for the evaluation of implementation of National Brucellosis Prevention and Control Plan (2016-2020). Methods: Four counties in Shanxi Province and Xinjiang Uygur Autonomous Region were selected to conduct a questionnaire survey in occupational population at high risk for brucellosis from December 2019 to July 2020 by using cross-sectional survey methods. Results: A total of 2 384 persons at high risk for brucellosis were surveyed, and the standardized utilization rate of personal protective equipment (PPE) was 20.13% (480/2 384). The utilization rate of glove, mask, rubber shoe, and work cloth were 38.26% (912/2 384), 31.80% (758/2 384), 32.01% (763/2 384) and 30.87% (736/2 384),respectively. There were significant differences in the utilization rate and standardized utilization rate of the four types of PPE among populations in different age, occupation, educational level and area groups (all P<0.001). The utilization rate and standardized utilization rate of PPE were lower in people over 60 years old, women, farmers, and those with lower educational level. The results of multivariate analysis showed that occupation and area were the influencing factors for the standardized utilization of PPE, the standardized utilization rates of PPE were higher in herdsmen and veterinarians. The standardized utilization rate of PPE in Yanggao County and Huocheng County was significantly higher than that in Zuoyun County and Hunyuan County. Conclusions: The utilization rate of the four types of PPE in occupational population at high risk for brucellosis was not high in China, and the standardized utilization rate was low, lower than the requirement in National Brucellosis Prevention and Control Plan, and there were significant differences among different areas. It is urgent to distribute PPE to occupational population at high risk for brucellosis and carry out health education about PPE utilization. Meanwhile, it is necessary to strengthen information exchange or sharing among different areas.

[Clinical observation on the efficacy and safety of dupilumab in the treatment of moderate to severe atopic dermatitis].

To investigate the clinical efficacy and safety of dupilumab in the treatment of moderate to severe atopic dermatitis (AD) in China. A small sample self-controlled study before and after treatment was conducted to retrospective analysis patients with moderate to severe AD treated with dupilumab in the department of dermatology of the First Affiliated Hospital of Chongqing Medical University from July 2020 to March 2022. Dupilumab 600 mg was injected subcutaneously at week 0, and then 300 mg was injected subcutaneously every 2 weeks. The condition was evaluated by SCORAD(severity scoring of atopic dermatitis), NRS(numerical rating scale), DLQI(dermatology life quality index) and POEM(patient-oriented eczema measure). The improvement of SCORAD, NRS, DLQI and POEM was analyzed by paired t test and non-parametric paired Wilcoxon. The results showed that a total of 67 patients with moderate to severe AD received dupilumab treatment, of which 41 patients (the course of treatment was more than 6 weeks) had reduced the severity of skin lesions, improved quality of life and reduced pruritus. A total of 23 patients completed 16 weeks of treatment. At 4, 8, 12 and 16 weeks, SCORAD, NRS, DLQI and POEM decreased compared with the baseline, and the differences were statistically significant. SCORAD (50.13±15.19) at baseline, SCORAD (36.08±11.96)(t=6.049,P<0.001) at week 4,SCORAD (28.04±11.10)(t=10.471,P<0.001) at week 8, SCORAD (22.93±9.72)(t=12.428,P<0.001) at week 12, SCORAD (16.84±7.82)(t=14.609,P<0.001) at week 16, NRS 7(6,8) at baseline, NRS 4(3,5)(Z=-3.861,P<0.001) at week 4, NRS 2(1,4)(Z=-4.088,P<0.001) at week 8, NRS 1(0,2)(Z=-4.206,P<0.001) at week 12, NRS 2(0,2)(Z=-4.222,P<0.001) at week 16, DLQI (13.83±5.71) at baseline, DLQI (8.00±4.02)(t=6.325,P<0.001) at week 4, DLQI (5.61±3.50)(t=8.060,P<0.001) at week 8, DLQI (3.96±1.99)(t=8.717,P<0.001) at week 12, DLQI (2.70±1.89)(t=10.355,P<0.001) at week 16, POEM (18.04±6.41) at baseline, POEM (9.70±4.70)(t=7.031,P<0.001) at week 4, POEM (7.74±3.48)(t=8.806,P<0.001) at week 8, POEM (6.35±3.33)(t=10.474,P<0.001) at week 12, POEM (4.26±2.51)(t=11.996,P<0.001) at week 16. In the 16th week, 100%(23 patients), 91.3%(21 patients), 34.8%(8 patients) and 8.7%(2 patients) of 23 patients reached SCORAD30, SCORAD50, SCORAD70, and SCORAD90 statuses, respectively. There were 82.6%(19 patients), 95.7%(22 patients) and 95.7%(22 patients) of 23 patients with NRS, DLQI and POEM improved by≥4 points compared with baseline. Twelve patients with AD who continued to receive dupilumab after 16 weeks showed further improvement in skin lesions. The adverse events were conjunctivitis and injection site reaction. In conclusion, dupilumab is an effective and safe treatment for moderate and severe AD. However, the longer-term efficacy and safety require further studies involving larger sample sizes and a longer follow-up time.

[Medical costs of brucellosis patients in Datong of Shanxi province, 2017-2019].

Objective: To explore the medical costs and influencing factors of patients diagnosed with Brucellosis in Datong of Shanxi province. Methods: Information on demographics, medical visits, and costs of patients diagnosed with Brucellosis between January 1, 2017, and December 31, 2019, were collected. Health care utilization and medical costs were analyzed from different genders, age groups, underlying diseases, clinical stages, and comorbidities. Results: A total of 2 289 patients (1 715 outpatient and 574 inpatient cases) were included in the analysis. 72.0% (1 649/2 289) were male, with an average age of (49.6±15.5) years; age between 45-59 years was the dominant group (36.2%,829/2 289). The mean age of inpatients (51.4±16.0) was higher than that of outpatients (49.0±15.2)(Z=-4.01, P<0.001). The average number of outpatient visits per outpatient was (1.6±1.5) times. The duration of hospitalization was (14.6±9.9) and (20.8±11.4) days for patients with central nervous system complications and (16.6±9.5) days for vascular system complications. Of the inpatients, 51.0% (293/574) had underlying diseases, and 30.3% (174/574) had endocrine and metabolic diseases. 54.0% (310/574) of inpatients were diagnosed with acute Brucellosis, and 46.0% (264/574) were diagnosed with chronic Brucellosis. A total of 64.3% (369/574) of inpatients had complications, 30.3% (174/574) of digestive system complications, followed by skeletal system complications (29.1%, 167/574). Among outpatients, age significantly affected medical costs (P<0.001). For inpatients, age and complications and treatment effect were influential factors (P<0.05). Patients with the combined skeletal system and central nervous system complications had significantly higher medical costs (P<0.001). Conclusions: The medical costs for outpatient cases of Brucellosis were moderate. However, the economic burden was higher for inpatients, especially those with skeletal and neurological complications. Early detection, diagnosis, and treatment of cases were essential to avoid chronic Brucellosis and its complications and reduce medical costs.

Brain functional changes in individuals with bulimia nervosa: a protocol for systematic review and meta-analysis.

INTRODUCTION: Bulimia nervosa (BN) is a disorder with high health and socioeconomic burdens that typically arises in late adolescence and early adulthood. Previous neuroimaging studies have found functional brain changes in patients with BN. This study aims to review the latest neurobiological evidence from studies of individuals with BN, examine the consistency of these findings and evaluate the food addiction hypothesis of the disease. METHODS AND ANALYSIS: A systematic search will be performed using the Cochrane Library, PubMed, Embase and Web of Science databases, covering the period from database inception to 30 November 2021. Two researchers will be responsible for study selection, quality assessment and data extraction. The anisotropic effect size version of the signed differential mapping method will be used to conduct a coordinate-based meta-analysis. Publication bias will be examined with the Egger test. The quality of studies will be evaluated using the Newcastle-Ottawa Scale. ETHICS AND DISSEMINATION: No ethics approval is required for this is a systematic review protocol and does not require the collection of primary data. Findings will be disseminated through peer-reviewed journal or related conferences. PROSPERO REGISTRATION NUMBER: CRD42022307233.

Attitudes and perceived barriers to mental healthcare in the People's Liberation Army Navy: study from a navy base.

INTRODUCTION: The People's Liberation Army (PLA, China) Navy is increasingly conducting military operations other than war overseas. Factors such as confrontations with pirates, special environments and long sailing times have resulted in mental health problems. However, the navy's actual utilisation of mental health services is low. This study examined members' rate of willingness to seek help and the factors that act as barriers to willingness to seek mental health services in the PLA Navy. METHODS: This cross-sectional study was conducted at the Zhoushan Base, operated by the East Sea Fleet, between March 2019 and April 2019. We distributed a 12-item questionnaire to examine participants' attitudes and perceived barriers to mental healthcare. We recruited 676 navy personnel. Participants' willingness to seek help if they had mental health problems was also assessed. RESULTS: The response rate was 99%. A total of 88.44% of the sample reported being willing to seek help. Univariate analysis suggested that those not willing to seek help were more likely to agree with the items, 'Mental healthcare does not work' and 'My unit leadership might treat me differently' and all organisational barriers, and they were more likely to have concerns about 'embarrassment' and 'being weak' than those willing to seek help. After controlling for demographic characteristics, binary logistic regression analyses confirmed that a lack of knowledge regarding the location of mental health clinics and being perceived as weak were the main factors preventing participants' willingness from seeking help. CONCLUSIONS: Extensive efforts to decrease organisational barriers and stigma towards mental healthcare should be a priority for researchers and policymakers to improve the usage of mental health services. Psychoeducation aimed at de-stigmatising mental health problems should be delivered and the accessibility and availability of mental health services should be increased.

[Hemolytic uremic syndrome complicated with IgA nephropathy: a clinicopathological study].

Objective: To investigate the clinicopathologic characteristics, treatments, outcomes and mechanisms of hemolytic uremic syndrome (HUS) complicated with IgA nephropathy (IgAN). Methods: The clinical manifestations, treatments, prognosis and histopathological features of renal biopsy tissues were analyzed in two cases of HUS complicated with IgAN from Beijing Children's Hospital, Capital Medical University using light microscopy, immunofluorescence detection and electron microscopy. The related literatures were also reviewed. Results: The clinical manifestations were microvascular hemolytic anemia, thrombocytopenia, acute renal impairment with hematuria, proteinuria, and positive anti-H factor antibody. Histological findings confirmed presence of both HUS and IgAN. Histological features included glomerular mesangial and stromal hyperplasia with endothelial cell proliferation, capillary stenosis, arteriolar thickening, and glomerular ischemia and capillary dilatation. Immunofluorescence detection showed diffuse IgA deposition in the glomerular mesangial matrix. Electron microscopy showed proliferation of mesangial and endothelial cells, thickening of the inner layer of the glomerular basement membrane, deposition of massive electronic densification in the mesangial region, and shrinkage of the segmental basement membrane. The two children were very responsive to plasma exchange and steroid treatments. However, their urine protein and occult blood tests remained continuously positive during the follow-up of 5 years 7 months and 8 months respectively. Conclusions: HUS complicated with IgAN is rare. The diagnosis relies on various pathological examinations, which require the combination of light microscopy, immunofluorescence detection and electron microscopy. Plasma exchange and steroid treatments are effective. However, the long-term prognosis is concerning and may relate to pathological grade and secondary factors. The mechanism of connecting HUS and IgAN is unknown, but may be caused by prodromal or secondary factors.

[Effects of the composite of buckwheat-oat-pea on blood glucose in diabetic rats].

OBJECTIVE: To study the effects of buckwheat-oat-pea (BOP) composite flour [buckwheat ∶ oats ∶ peas=6 ∶ 1 ∶ 1 (quality ratio)] on blood glucose in diabetic rats. METHODS: In this study, 64 male Sprague-Dawley rats were divided into 8 groups by fasting blood glucose (FBG) and body weight: normal control group, model control group, metformin group, buckwheat group, oats group, BOP low-dose group (BOP-L), medium-dose group (BOP-M), and high-dose group (BOP-H). The rats in the normal control group were fed with normal diet, the rats in the model control group and metformin group were fed with a high-fat diet (HFD), and the rats in the buckwheat group, oats group, and BOP-L, BOP-M, BOP-H groups were fed with HFD containing 10% buckwheat flour, 10% oat flour, 3.3% BOP, 10% BOP, 30% BOP, respectively. The HFD in all the groups had the same percentage of energy from fat (45%). After 30 days, the rats fed with HFD received intraperitoneal injection of streptozotocin (30 mg/kg, once a week for two weeks) to establish diabetes mellitus. After the model was successful established, the rats were fed for another 28 days. During the study, the body weight, food intake/body weight (FI/BW) and water intake/body weight (WI/BW), food utilization rate, 24 h urine volume, FBG, glucose area under curve (GAUC) of oral glucose tolerance test were measured regularly. At the end of the study, the fasting serum glucose and insulin were measured, and homeostasis model assessment of insulin resistance (HOMA-IR) was calculated. RESULTS: With the inducing of HFD and streptozotocin, compared with the normal control group, the rats in the model control group had higher FI/BW, WI/BW, 24 h urine volume, FBG, GAUC, HOMA-IR (P < 0.05), and lower body weight, food utilization rate (P < 0.05). Compared with the model control group, the rats in the three BOP groups all had higher body weight, food utilization rate (P < 0.05), and lower WI/BW, HOMA-IR (P < 0.05); the rats in the BOP-L and BOP-M groups had lower FI/BW, 24 h urine volume, FBG (P < 0.05), and the rats in the BOP-M group also had lower GAUC (P < 0.05). After the establishment of diabetes, there was no significant difference in blood glucose and the other indicators between the rats in the three BOP groups and the buckwheat group or the oats group (P>0.05). CONCLUSION: The BOP had the effects of reducing blood glucose, insulin resistance and diabetic symptoms on diabetic rats, and had the value for further development and utilization.

[Effect of levothyroxine treatment on pregnancy outcomes in euthyroid women with thyroid autoantibody positive: a Meta-analysis].

Objective: To conduct a systematic review of the association of levothyroxine treatment with pregnancy outcomes in euthyroid women who are thyroid autoantibody positive. Methods: Medline, Excerpta Medica (EMBASE), Cochrane Library, China National Knowledge Infrastructure (CNKI), China Biology Medicine (CBM), Wanfang data and VIP database were searched from inception until Jan. 28, 2020. All published randomized controlled trials assessing the association of levothyroxine treatment with pregnancy outcomes in euthyroid women with thyroid autoantibody-positive were included. STATA 11.0 and RevMan 5.3 softwares were used to perform this Meta-analysis. Results: A total of 6 studies met the inclusion criteria, with 2 188 women randomized. Meta-analysis showed that there was no significantly association between miscarriage (OR=0.85, 95%CI: 0.65-1.11, P=0.234) and preterm birth (OR=0.79, 95%CI: 0.54-1.16, P=0.224) with levothyroxine treatment. Conclusions: Levothyroxine therapy could not reduce the risk of miscarriage and preterm birth in euthyroid women with thyroid autoantibody-positive. Therefore, levothyroxine should be used with caution for these pregnant women.

KLHL22 promotes malignant melanoma growth in vitro and in vivo by activating the PI3K/Akt/mTOR signaling pathway.

The kelch like family member 22 (KLHL22) is a member of the KLHL (Kelch-like) gene family, which was involved in the progression of breast cancer. However, its role remains unclear in malignant melanoma (MM). Our study found that KLHL22 expression was upregulated in human MM tissues. Regarding the functional analysis for KLHL22 in the progression of MM cells, we demonstrated that overexpression of KLHL22 could promote MM cell growth in vitro. Vice versa, knockdown of KLHL22 could suppress the proliferation of MM cells. Furthermore, KLHL22 also promoted tumorigenesis of MM cells in vivo. In experiments investigating the underlying mechanism, expressions of p-Akt and p-mTOR were significantly increased by overexpression of KLHL22. Meanwhile, knockdown of KLHL22 could decrease the expression levels of p-Akt and p-mTOR. Our studies thus suggest that KLHL22 can promote the growth of MM cells via activating the PI3K/Akt/mTOR signaling pathway, which can serve as a potential target in the diagnosis and/or treatment of MM.

Role of probiotics containing Lactobacillus reuteri in adjunct to scaling and root planing for management of patients with chronic periodontitis: a meta-analysis.

OBJECTIVE: Probiotics, nowadays are the effective in management of chronic periodontitis when used as an adjunct to non-surgical periodontal therapy. However, the beneficial effects of probiotics are varied with the nature of bacterial strain. Our meta-analysis aims at evaluating the magnitude of improvement in clinical and microbiological parameters, with administration of Lactobacillus reuteri alone in adjunct to scaling and root planning (SRP). MATERIALS AND METHODS: A digitalized database search was made in MEDLINE (PubMed), Scopus, CENTRAL (Cochrane Registry of Trials), Web of Science, and EMBASE, to identify eleven randomized clinical trials published within last decade (2009-2019), with double blind, placebo controlled study design. The data extraction was carried out and subject to both qualitative and quantitative synthesis. The primary outcomes assessed were gain in clinical attachment level (CAL), reduction in probing pocket depth (PPD), and reduction in microbial levels. RESULTS: The meta-analysis plots were used to assess all the clinical outcomes. The mean difference of reduction in PPD at 21 days (MD-0.61) and 3 months (MD-0.40), and CAL gain at 3 month (MD-0.30) showed favourable response in the sites treated with probiotics containing Lactobacillus reuteri in addition to SRP. The meta-plots for major peridonto-pathogens constructed at 21 days follow-up, showed short-term effective reduction. CONCLUSIONS: Within the limits of the study, Lactobacillus reuteri containing probiotics showed a significant clinical and microbiological benefit, however, the favourable effect was shown to be short-term.

[Implementation of Beijing Tobacco Control Regulation in restaurants in Dongcheng and Chaoyang districts of Beijing, 2018].

Objective: To evaluate the implementation effect of the Beijing Tobacco Control Regulation. Methods: An observational study was conducted in a multi-stage randomly selected sample of 93 restaurants in Dongcheng and Chaoyang districts, Beijing. Undercover visits to the restaurants were paid by investigators at lunch or dinner time. The incidence of smoking behavior and the posters of no-smoking signs were observed, waiters were interviewed about awareness of the regulation, and comparisons with the baseline data of 6 months before and 1 month after regulation implementation were made. Results: The pasting rate of no-smoking signs was 76.3%. The awareness of the regulation in the waiters surveyed was high. The incidence rate of smoking in restaurants (29.0%) was lower than that before the regulation implementation (36.7%), but it was significantly higher than that one month after regulation implementation (14.8%). No active interventions from the restaurant staff were observed when smoking occurred. The incidence of smoking in restaurants within commercial buildings (3.3%) was significantly lower than that in non-commercial buildings (41.3%), the difference was significant (P<0.05). Conclusions: The effect of the regulation weakened 3 years after implementation compared with that in 1 month after the implementation. The enforcement degree of the regulation was conflicted with pasting rate of no-smoking signs and the regulation awareness level in waiters in restaurants in Dongcheng and Chaoyang districts.

[Prenatal and postnatal ultrasound assessment and clinical prognostic analysis for Ebstein anomaly].

Objective: To investigate the echocardiographic features of fetal Ebstein's anomaly (EA) and to analyze its clinical outcome and prognosis. Methods: A retrospective case-control study was conducted to analyze the echocardiographic features in fetus with EA. Thirty-five EA fetuses (EA group) and 35 normal fetuses matched for gestational age (control group) were enrolled. The main echocardiographic parameters of the two groups were collected and compared. According to the direction of blood flow in the ductus arteriosus (DA),fetuses in EA group were divided into DA reverse perfusion subgroup (n=11) and normal DA blood flow subgroup (n=24). The echocardiographic parameters and GOSE scores were compared between the two subgroups. The echocardiographic features of EA and the difference of fetal hemodynamics were summarized,and the clinical outcome of EA fetus was evaluated by GOSE score. Chi-square test Rank sum test or t test were used for comparison between groups. Results: Nineteen (54%) of the 35 patients terminated the pregnancy and 16 (46%) continued pregnancy until delivery during follow-up. Compared with the normal fetus group,the cardiothoracic ratio was significantly higher (0.47±0.11 vs. 0.34±0.01, t=6.640, P<0.01) and the transverse diameter ratio of right atrium to left atrium was significantly greater (1.42±0.38 vs. 1.08±0.11, t=5.030, P<0.01) in the EA group, and the ratio of pulmonary artery diameter to aortic diameter was significantly lower in the EA group (1.04±0.21 vs. 1.20±0.15, t=-3.770, P<0.01). Compared with the normal DA blood flow subgroup,the GOSE scores ≥ 1.5 was more frequently seen (7/11 vs. 3/24, P=0.004) and the ratio of pulmonary artery diameter to aortic diameter was significantly lower (0.91±0.18 vs. 1.24±0.20, t=-4.696, P=0.002) in the DA reverse perfusion subgroup. Six of the 16 delivery cases underwent EA corrective surgery after birth with 100% successful rate of operation. Among the 6 cases,two had preoperative GOSE score of ≥1.5 who were considered as severe cases,and four had low GOSE score of<1.5. The remaining ten cases who had not undergone the corrective surgery were followed up routinely. Conclusion: Prenatal hemodynamics of EA combined with GOSE score can more accurately evaluate the severity and prognosis of fetal EA, reduce unnecessary labor induction, and improve postpartum cure rate and clinical outcomes.

[Analysis of mortality and leading causes of death in Chinese children under 5-year-old between 2010 and 2016].

We collected death data of children under 5-year-old in China from the national child mortality surveillance system from 2010 to 2016. The change of mortality rate and causes of death were described. The mortality rate of Chinese children under 5-year-old decreased from 16.4‰ to 10.2‰ in all areas between 2010 and 2016, from 20.1‰ to 12.4 ‰ in rural areas and from 7.3‰ to 5.2‰ in urban areas, respectively, with a greater average annual decreasing rate in rural areas than urban area. During these years, in addition to traffic accidents and sepsis, other 8 cause-specific mortality rates showed a downward trend. There were substantial decreases of mortality rates of premature birth or low birth weight, birth asphyxia and neural tube defects. In urban areas, the mortality rate of premature birth or low birth weight, birth asphyxia decreased, and the mortality rate of congenital heart disease and diarrhea substantially decreased. However, there was a substantial increase of mortality rate of septicemia in urban areas. In rural areas, the change of major cause-specific mortality rates were consistent with the national trend.

[Survey of exposure to second-hand smoke in residents aged 15 years and over one year after implementation of tobacco control regulation in public places in Beijing].

Objective: To monitor the second-hand smoke (SHS) exposure in residents aged 15 years and over in public venues, indoor workplaces, on public transportation vehicles and at home in Beijing and evaluate the effect of Beijing Tobacco Control Regulation. Methods: Data from 2014 and 2016 Beijing Adult Tobacco Survey were used. The surveys covered 16 districts in Beijing. The study subjects were selected through multi-stage cluster sampling with probability proportional to population size, and data were collected by using electronic questionnaire in face-to-face household interviews. A total of 8 484 and 9 372 valid questionnaires were collected for the surveys in 2014 and 2016, respectively. Statistical packages SPSS 20.0 and R 3.4.4 were used for data analyses. After weighting the samples using complex survey designs, the SHS exposure rates in different places in adults of Beijing were estimated. χ(2) tests were performed for the comparison. Results: The SHS exposure rates of residents aged 15 years and over in Beijing who visited health care facilities, government buildings, universities, primary and secondary schools and restaurants declined from 12.8%, 19.7%, 24.3%, 32.8% and 65.7% in 2014 to 6.2%, 10.8%, 12.5%, 19.1% and 32.5% in 2016, respectively. The SHS exposure rates in bars/nightclubs were 89.5% in 2014 and 80.3% in 2016. From 2014 to 2016, the SHS exposure rates declined from 35.7% to 20.0% in indoor workplaces and declined from 3.9% to 2.5% on public transportation vehicles. The SHS exposure rates at home were 39.8% in 2014 and 37.6% in 2016, respectively. Conclusions: The SHS exposure rates in public places declined obviously in Beijing after the one year implementation of Beijing Tobacco Control Regulation, indicating the effect of the regulation implementation.

[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].

Objective: To analyze the clinical and genetic features of immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with a case report and literature review. Methods: The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed. "ICF syndrome" "immunodeficiency, centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018, and the literature was reviewed. Results: A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year. Laboratory tests showed humoral immune deficiency with IgG<1.34 g/L, IgA<0.060 g/L, and IgM<0.179 g/L, but normal cellular immunity (total T lymphocyte 0.503, hepler T lymphocyte 0.328, cytotoxic T lymphocyte 0.166, natural killer cell 0.184, total B lymphocyte 0.276). Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A>G in intron 8, and a de novo heterozygous missense mutation c.2477G>A in exon 23 of DNMT3B gene. Chromosome karyotype analysis showed 46, XX, with 64 out of 100 karyotypes showing centromere instability in chromosome 1. Five papers were found which were all in English, with total of 29 patients. Forty-three mutations were reported, including 34 missense, 2 deletion, 1 insertion, 6 splice site mutations. Eleven patients had complex heterozygosis mutations. All patients had centromere instability, humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears. Most patients had language and motor development delay, and a few were combined with mental retardation. Conclusions: ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations. De novo mutation of DNMT3B gene is one of etiologies according to genetic test.

[One year after the implementation of 2015 Tobacco Control Regulation on persons aged 15 years and over tobacco use in Beijing].

Objective: To understand the current status of smoking and smoking cessation in persons aged 15 years and over in Beijing and evaluate the effect of 2015 Beijing Tobacco Control Regulation. Methods: In 2014 and 2016, based on the principles and methodology of the Global Adult Tobacco Survey. A total of 50 communities or townships were selected from 324 communities or townships in Beijing through multistage cluster sampling, and 2 community (village) committees from each community or township were selected with the method of probability proportional to size (PPS). A total of 100 surveillance sites were set, and 100 households were selected from each surveillance site by using simple random sampling. Data were collected through face-to-face interview from the eligible family members aged 15 years and over with the assistance of a tablet computer. Statistical analyses were conducted by using complex sampling analyses module of SPSS 20.0, with weights as a combination of sampling weights, non-response weights and post- stratification weights, for the calculation of current smoking prevalence, daily smoking prevalence, smoking cessation rate, etc. Results: A total of 8 484 and 9 372 valid questionnaires were obtained, respectively, in 2014 and 2016, with the response rate of 86.5% and 96.5%. The current smoking prevalence in persons aged 15 years and over was 23.4% in 2014, and 22.3% in 2016. According to the 6(th) national census data, the current smoking population decreased by 199 000 in Beijing. The proportion of daily smokers declined from 20.7% in 2014 to 19.2% in 2016. The daily number of cigarettes consumed by current smokers increased from 14.6 in 2014 to 15.4 in 2016. The smoking cessation rate was 14.9% in 2014 and 16.8% in 2016. The proportion of current smokers who had at least one smoking cessation attempt in the past 12 months increased from 22.3% in 2014 to 23.2% in 2016, and the proportion of current smokers who planned to quit smoking increased from 11.6% to 15.5%. Among the current smokers who had visited doctors in the past 12 months, the proportion of those having smoking cessation advice was 58.9% in 2014 and 59.2% in 2016. In 2016, among the current smokers who had attempted to quit in the past 12 months, 36.8% were aware of the smoking cessation clinics, and 29.5%were aware of the quitline. Among those who were aware, only 7.7% had actually visited the cessation clinics, and 5.5% had used the quitline. Conclusions: After the implementation of 2015 Beijing Tobacco Control Regulation for 1 year, the current smoking prevalence in persons aged 15 years and over showed decreasing. It is necessary to further prompt the expansion of smoking cessation service to cover more current smokers.

[The role of prophylactic use of pegylated recombinant human granulocyte colony-stimulating factor(PEG-rhG-CSF) in breast cancer receiving adjuvant chemotherapy].

Objectives: To investigate the efficacy and safety of prophylactic use of pegylated recombinant human granulocyte colony-stimulating factor(PEG-rhG-CSF) in breast cancer receiving docetaxel as adjuvant chemotherapy. Methods: A total of 58 patients with breast cancer receiving adjuvant chemotherapy with docetaxel were included between January 2014 to October 2017. Prophylactic use of PEG-rhG-CSF was administered.Patients were further divided into two groups according to the frequency of PEG-rhG-CSF use: frequent use group (≥3 cycles) and non-frequent use group (<3 cycles). Results: There were significant differences in the incidence rates of grade 3/4 neutropenia between the prophylactic group and non-prophylactic group in cycle 1-3(P<0.05). Less febrile neutropenia (FN) was also noted in the prophylactic group compared with the non-prophylactic group in cycle 1 and cycle 3 (P<0.05). Grade 3/4 neutropenia and FN were less in the frequent use of group compared with the non-frequent use group(P<0.001). The most common side effects of PEG-rhG-CSF included fatigue (10.2%), bone joint pain(50.8%), and 2 patients (3.4%) refused further treatment because of bone joint pain. Conclusions: PEG-rhG-CSF should be prophylactically used for preventing neutropenia and febrile neutropenia in breast cancer patients receiving adjuvant chemotherapy with docetaxel regimen.

Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.

Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing (NGS) in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty-three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic/likely pathogenic with clinical concordance. Twelve variants were initially assessed as uncertain significance by ACMG, among which 3 were considered causative and 3 others were considered possibly causative after analysis of clinical concordance. In total, 24 variants were identified as putatively causative, among which 19 were novel findings. SCN1A mutations were identified in 50% of patients with Dravet syndrome. TSC1/TSC2 mutations were detected in 66.7% of patients with tuberous sclerosis. STXBP1 mutations were the main findings in patients with West syndrome. Mutations in SCN2A, KCNT1, KCNQ2 and CLCN4 were identified in patients with epileptic infantile with migrating focal seizures; among them, KCNQ2 and CLCN4 were first identified as potential causative genes. Only one CHD2 mutation was detected in patients with Lennox-Gastaut syndrome. This study highlighted the utility of targeted NGS in genetic diagnoses of epileptic encephalopathies and a comprehensive evaluation of the pathogenicity of variants based on ACMG scoring and assessment of clinical concordance. Epileptic encephalopathies differ in genetic causes, and the genotype-phenotype correlations would provide insights into the underlying pathogenic mechanisms.

Supplemented Organic and Inorganic Selenium Affects Milk Performance and Selenium Concentration in Milk and Tissues in the Guanzhong Dairy Goat.

Trace amounts of selenium (Se) are essential for several organisms, and deficiencies therein have adverse effects on growth, development, and reproduction; this is particularly significant in animals raised for milk and livestock production. To study the effect of Se on Guanzhong dairy goats, their diets were supplemented with different sources (inorganic or organic) and Se concentrations (0.2 or 0.4 mg Se/kg). A non-Se-fortified basal diet served as a negative control, and a sixth treatment group received both inorganic and organic Se sources (0.2 mg Se/kg diet each). Dietary Se supplementation increased milk production, with organic Se being more effective than inorganic Se. Selenium supplementation also increased Se concentration and glutathione peroxidase activity in whole blood, with organic Se more effective than inorganic Se at the same Se concentration. With increasing Se in diets, the Se content in milk increased markedly, reaching a plateau value at day 30 in all groups, and organic Se (0.4 mg/kg diet) had the best effect. In addition, dietary Se sources and concentrations markedly affected Se concentrations in different tissues and organs. Thus, organic Se supplementation of a basal diet at 0.4 mg/kg is practically applicable for Se-enriched milk and meat production in Guanzhong dairy goats.