OBJECTIVE: To summarize the clinical features and biological characteristics of Helsmoortel Van der Aa syndrome (HVDAS) due to hotspot mutations of the ADNP gene in order to facilitate early diagnosis. METHODS: Clinical data and result of genetic testing for a girl with HVDAS due to hotspot mutation of the ADNP gene was summarized. Related literature was also reviewed. RESULTS: The patient, a 2-year-old girl, had presented with growth retardation, facial dysmorphism, psychomotor and language delay and recurrent respiratory infections. Whole exome sequencing revealed that she has harbored a heterozygous c.2496_2499delTAAA (p.Asn832Lysfs*81) variant of the ADNP gene, which was not found in either of her parents. CONCLUSION Although the typical features of the HVDAS have included intellectual disability and autism spectrum disorders, growth retardation and premature primary tooth eruption may also be present. In addition, the phenotypic difference among individuals carrying hot spot variants of the ADNP gene was not prominent.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; Homeodomain Proteins/genetics* ; Nerve Tissue Proteins/genetics* ; Abnormalities, Multiple/genetics* ; Mutation ; Rare Diseases ; Growth Disorders/genetics*

Objective:To evaluate the clinical efficacy of omalizumab in the treatment of patients with chronic spontaneous urticaria accompanied by other allergic diseases.Methods:Clinical data were retrospectively collected from 74 patients, who were clinically diagnosed with chronic spontaneous urticaria and other allergic diseases, and received subcutaneous injections of omalizumab in the Department of Allergy, Tianjin Medical University General Hospital from June 2020 to September 2022. Types of allergic diseases, serum total IgE (tIgE) and allergen-specific IgE (sIgE) levels before treatment, treatment outcomes and adverse drug reactions were analyzed. Differences before and after treatment were assessed using paired t-test and Wilcoxon signed-rank sum test. Results:A total of 74 patients with chronic spontaneous urticaria were involved, including 29 with complicated allergic asthma (39.2%) , 61 with complicated allergic rhinitis (82.4%) , 6 with complicated atopic dermatitis (8.1%) , and 4 with food allergy (5.4%) . Before treatment, elevated serum tIgE or sIgE levels were observed in 44 (59.5%) patients. After the first omalizumab treatment, the urticaria control test (UCT) score significantly increased compared with that before treatment (16.00 [13.0.0, 16.00] vs. 6.00 [5.75, 9.00], Z = 7.39, P < 0.001) ; after 4 sessions of the omalizumab treatment, 82.5% (33/40) of the patients achieved complete control of urticaria symptoms or showed complete response. After omalizumab treatment, asthmatic attacks were decreased in 29 patients with allergic asthma, and asthma control test (ACT) scores significantly increased compared with those before treatment (21.07 ± 2.88 points [after the first treatment] vs. 18.48 ± 3.20 points [before treatment], t = 8.87, P < 0.001) ; among 61 patients with allergic rhinitis, global rhinitis symptom-based visual analog scale (VAS) scores (before treatment: 5.89 ± 1.29 points; after the first treatment: 3.28 ±1.46 points) and rhinoconjunctivitis quality of life questionnaire (RQLQ) scores (before treatment: 60.10 ± 20.53 points; after the first treatment: 37.26 ± 18.83 points) both significantly decreased after the first treatment ( t = 15.04, 10.01, respectively, both P < 0.001) , and rhinitis symptoms were relieved at the same time; skin itching was relieved in 4 patients with atopic dermatitis, and allergic symptoms after contact with food allergens were also relieved in the 2 patients with food allergy after omalizumab treatment. During the treatment, only 1 patient experienced erythematous swelling, induration, and pain at the injection site. Conclusions:In the treatment of chronic spontaneous urticaria accompanied by allergic diseases, the use of omalizumab not only effectively improved urticaria symptoms, but also well controlled allergic diseases, with a good safety profile. Multiple benefits may be achieved by the use of omalizumabin in patients with chronic spontaneous urticaria accompanied by other allergic diseases.

Objective To investigate the prevalence rate of occult HBV infection (OBI) in patients with autoimmune hepatitis (AIH) and the influence of OBI in the clinical condition and prognosis of AIH patients. Methods A total of 103 patients with a confirmed diagnosis of AIH who were admitted to Beijing YouAn Hospital from April 2012 to March 2019 were enrolled. Nested PCR and real-time PCR were used to confirm the diagnosis of OBI, and real-time PCR was used to measure HBV pgRNA. Clinical features, laboratory markers, and follow-up analysis of prognosis were compared between the OBI group with 24 patients and the non-OBI group with 79 patients. The independent samples t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U rank sum test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test or the Fisher's exact test was used for comparison of categorical data between groups. The Kaplan-Meier method was used to plot survival curves, and the Cox regression model was used to perform univariate and multivariate analyses. Hazard ratio and its 95% confidence interval were calculated. Results The detection rate of OBI was 23.30% (24/103) in AIH patients, with an HBV DNA viral load of < 200 IU/mL, among whom 9 patients with OBI (9/24, 37.50%) were found to have HBV pgRNA in serum. Compared with the non-OBI group, the OBI group had a significantly higher positive rate of the three antibodies anti-HBs, anti-HBc, and anti-HBe ( χ 2 =5.906, P =0.016). The univariate analysis showed that OBI, hypoproteinemia, splenomegaly, and ascites were risk factors for adverse events in AIH (all P < 0.05) and were associated with disease progression, and the multivariate Cox regression analysis showed that hypoproteinemia and ascites were independent risk factors for adverse events (all P < 0.05). Conclusion There is a relatively high detection rate of OBI in AIH patients, and the presence of OBI may accelerate the progression of AIH.

Objective:To comprehensively understand the operational status and existing problems of the neurosurgery professional training bases for standardized residency training in Guangdong Province.Methods:According to the scoring rules of "Standardized Residency Training Evaluation Indicators—Surgery (Neurosurgery) Professional Base" formulated by the Post-Graduation Medical Education Neurosurgery Professional Committee of the Chinese Medical Doctor Association, 28 training bases were supervised and evaluated. The scoring results of the supervision of 28 neurosurgery training bases were collected, and the training bases were divided into two categories according to the traditional teaching history, 6 affiliated hospitals of traditional medical schools and 22 non-traditional affiliated/teaching hospitals. GraphPad 5.0 software was used for statistical analysis of the 14 core indicators, and t-test, variance analysis and Chi-square test were used for analysis. Results:The results showed that there was a statistically significant difference in the compliance rate of 14 core indicators between traditional teaching hospitals and non-traditional teaching hospitals ( P = 0.003), skill operation and type and number of surgeries ( P = 0.041) and student rotation plan ( P = 0.012). The differences were also statistically significant. Conclusion:This study reveals that the comprehensive management ability of training bases in traditional teaching hospitals is significantly better than that in non-traditional teaching hospitals. Additionally, it's suggested to strengthen the construction of professional bases, enhance the institutionalized management of bases, and thus realize the homogenization training of neurosurgery residents.

Objective:To identify the clinical characteristics and adverse events of patients with giant cell arteritis (GCA).Methods:Patients who were hospitalized and diagnosed with GCA in Zhongshan Hospital, Fudan University, from December 2009 to November 2020 were enrolled into a retrospective study analysis. Baseline data and follow-up data were collected. Adverse events were defined as one of the following events: relapses, ischemic complications and death. Patients with adverse events were analyzed in clinical features and risk factors by univariate and multivariate analysis. Associations with adverse events were assessed using ROC curve and survival curves.Results:A total of 69 patients with GCA were included in this study, with the male: female ratio of 1∶1.03. Fatigue and headache were common symptoms. Finally, 61 patients were followed up at the end of May in 2021. Over the mean follow-up time of (35±20) months, adverse events occurred in 16 cases (26.2%). Patients with adverse events had significantly lower levels of platelet and globulin at baseline than those without adverse events [(325±142)×10 9/L vs (238±112)×10 9/L, t=2.22, P=0.030]; [(31±6) g/L vs (26±6) g/L, t=2.74, P=0.008]. Red cell volume distribution width-coefficient of variation (RDW-CV) was considered an independent risk factor for adverse events [ OR (95% CI)=0.32 (0.14,0.74), P=0.008]. Further, patients especially with RDW-CV<14.75% were prone to have adverse events, which occurred in 2.6%, 20.5%, 25.6%, 33.3%, 41.00% in 1, 2, 3, 5, 10 years. Its risk increased significantly after 2 years ( P=0.042, P=0.021, P=0.002, P=0.001). The incidence of adverse events was much higher in patients with RDW-CV<14.75%(95% CI=0.002). Conclusion:Adverse events are common in patients with GCA. RDW-CV is an independent risk factor for having adverse events. Low level of RDW-CV predicts an increased risk of adverse events by the following years.

Objective:To evaluate the effect of combined use of Guben-Tiaoping Decoction on the success rate of stepwise treatment and life quality of asthma patients. Methods:A total of 76 patients with asthma in remission stage who were using ICS were divided into treatment group (38 cases) and control group(38 cases) according to random number table. Both groups were treated with ICS reduction based on the 2017 Gina Protocol. The treatment group was treated with Guben-Tiaoping Decoction for 12 weeks. The number of patients who were able to successfully complete the stepwise treatment after the end of the trial was calculated, the relevant indexes of Asthma Control Test (ACT), TCM Syndrome score, St. George’s respiratory questionnaire (SGRQ) and lung function were collected before and after treatment. Result:After 12 weeks’ treatment, the success rate of stepwise was 89.5% (34/38) in the treatment group and 78.9% (30/38) in the control group ( χ2=14.862, P=0.001). Meanwhile, the ACT score of the treatment group were better than those in the control group (Daytime symptoms t=-3.860, P=0.001, Dyspnea t=-2.007, P=0.40, Night waking t=-2.732, P=0.009, Reliever needed for symptoms t=-2.262, P=0.031, Control situation t=-6.994, P=0.001, Total Score t=-9.562, P=0.001). The score of TCM Syndrome in the treatment group was significantly lower than that of the control group ( P=0.001); PEF in treatment group [(6.92 ± 1.71) L vs. (5.84 ± 1.22) L; t=-2.880, P=0.005] was significantly better than that of the control group. Conclusion:Guben-Tiaoping Decoction is helpful to improve the success rate of ICS stepwise treatment and the life quality of patients.

In coronavirus disease 2019 (COVID-19) epidemic prevention and control, effective control of nosocomial infection and prevention of occupational exposure of first-line medical staff are the requirements of scientific prevention and control, as well as the premise and foundation of scientific treatment of patients. This paper introduces the priority of personnel management of infectious occupational exposure risk at The First Affiliated Hospital of Xi’an Jiaotong University, and analyzes engineering control, management and behavior control, and personal protection. It elaborates on the hospital management methods and proposes scientific preventive measures.

Objective:To investigate the epidemiological characteristics and relevant factors among individuals characterized by their longevity in multiple regions of Guangxi Zhuang Autonomous Region, and provide a valuable scientific perspective for the research in health and longevity of the elderly in Guangxi.Methods:Registration and face-to-face questionnaire on a door-to-door basis were adopted to collect the demographic characteristics of the long-lived individuals (≥90 years old) in Bama of Hechi city, Yongfu of Guilin city, Dongxing of Fangchenggang city, Guangxi. Then, among the local general population, individuals within the age group between 40 and 85 years old were selected randomly as controls. Correlations were then analyzed between the relative health and longevity of the subjects and their gender, ethnicity, family history, disease history, marital status, the number of family generations, the number of children, smoking, drinking, outdoor activities, sleep and other health-related factors, then the result was subject to further analysis by comparing the long-lived population and the control population respectively.Results:Among 691 500 of the permanent residents of Bama, Yongfu and Dongxing city, 1 005 cases were 90 years old and over with a ratio of 145.34 out of 100 000 persons; within the 1 005 cases, 944 were aged between 90 and 100 (longevity rate: 136.51/100 000) with an average age of (93.28±2.57); 61 cases were aged 100 or over, arriving at a centenarian rate of 8.82/100 000 with an average age of (102.00±3.05) years. Significant differences were found just among three particular factors — regional distribution ( P=0.014), history of disease ( P=0.002), four generations of family ( P=0.008) between nonagenarians and centenarians ( P<0.05), while the other 15 indicators did not show anything noteworthy. The result indicated that longevity and centenarians might be the same group and then we combined both groups into one. By cross-comparison between the longevity-plus- centenarians and the control group in the region, factors listed below exhibited significant correlation with health and longevity: marital status ( OR=26.469, 95% CI: 13.208-53.045), number of generations within the family ( OR=5.419, 95% CI: 3.418-8.592), number of male offspring ( OR=2.013, 95% CI: 1.555-2.607), number of female offspring ( OR=1.380, 95% CI: 1.122-1.696), and the frequency of outdoor activities ( OR=10.226, 95% CI: 3.164-33.045). Conclusions:The longevity rate is higher in the general natural population in Bama, Yongfu and Dongxing of Guangxi. The phenomenon may owe to favorable family structure, atmosphere within or out of the family or other elements related with social surrounding. Among them all, mentality, inclination to physical exercise and regular rhythm of life may all exert tremendous contributory influence here.

Objective:To explore the epidemiologic characteristics of long-lived population and influencing factors in Shanglin county of Guangxi and provide scientific basis for the study of health and longevity in Guangxi.Methods:We collected and analyzed the general demographic cross-sectional data of the long-lived individuals (≥90 years old) in 11 villages and towns by multi-source registration and face-to-face interview. The age group control design was adopted to conduct a comparison among the longevity group (90-100 years old), centenarian group (≥100 years old), the longevity plus centenarian group and control group (local population aged 40-85 years), and identify the factors related to longevity.Results:Among the 496 007 people registered in Shanglin, 1 533 were aged ≥90 years, including 1 453 in the longevity group, with an average age of (92.84±2.46) years, and 80 in the centenarian group, with an average age of (102.67±2.60) years. The spatial distribution of long-lived individuals and centenarians was mainly in the north and central areas, and sparse in southwest area. Analysis on factors related to health and longevity indicated that old people with Zhuang ethnic ( OR=1.551,95% CI:1.308-1.838), married ( OR=55.507,95% CI:36.087-85.377) and moderately high waist-to-hip ratio ( OR=258.056,95% CI:27.775-2 397.569), and SBP ( OR=1.019,95% CI:1.013-1.026) tended to live longer. Conclusions:We found that the rate of longevity in Shanglin was higher than the average level in Guangxi and China. Longevity in Shanglin country had unique spatial and population distribution characterics of female longevity more than male longevity, mainly Zhuang ethnic and so on. Being women, married, family history of longevity, appropriate high waist-to-hip ratio, SBP and blood sugar level might be positive factors for longevity in Shanglin, but the impacts of other factors on longevity need further study.

Objective:To provide health education based on the constitution identification, summarize the changes in the cardiovascular residual risk of the pre-diabetic population, so as to explore a new way to reduce the risk of cardiovascular disease in this population.Methods:From July 2016 to October 2017, convenience sampling was used to select 200 patients with prediabetes who were treated in 4 community centers in Chaoyang District, Beijing as the research object. The population was randomly divided into conventional health education group and constitution identification-based health education group, with 100 cases in each group. Conventional health education group carried out conventional health education. Constitution identification-based health education group used the "Classification and Determination of Constitution in TCM" to identify the constitution, and conduct health education of Traditional Chinese Medicine for the constitution. The high-density lipoprotein (HDL) , low-density lipoprotein (LDL) , triglycerides (TG) , total cholesterol (TC) and blood uric acid (UA) were compared between the two groups before and after the intervention.Results:Before the intervention, there was no significant difference in HDL-C, LDL-C, TG, TC and UA between the two groups ( P>0.05) . After the intervention, the LDL-C of the constitution identification-based health education group was higher than that of the conventional health education group, and the TG and UA were lower than those of the conventional health education group, and the difference was not statistically significant ( P>0.05) . The HDL of the constitution identification-based health education group was higher than that of the conventional health education group, and the TC was lower than that of the conventional education group, the difference was statistically significant ( P<0.05) . Conclusions:Health education based on the constitution identification can effectively reduce the cardiovascular residual risk of pre-diabetes population, and it is a new way to reduce the risk of cardiovascular disease in this population.