Objective To explore TCM syndrome distribution law in patients with overlapping non-erosive reflux disease(NERD)and epigastric pain syndrome(EPS)gastrointestinal symptoms.Methods A multi-center,cross-sectional study was conducted to investigate the general information of 800 patients with overlapping NERD and EPS gastrointestinal symptoms in four hospitals,such as gender,age,body mass index(BMI)and four diagnostic information of TCM.Descriptive frequency analysis,factor analysis and clustering analysis were used to summarize the TCM syndrome types and distribution characteristics.Results The average age of 800 patients with overlapping NERD and EPS gastrointestinal symptoms was(44.50±14.43)years old,the average BMI was(23.17±4.80)kg/m2,and the male to female ratio was 3:5.Frequency of 95 TCM symptoms/signs≥20%.18 common factor variables were obtained based on factor analysis,and the cumulative contribution rate was 67.11%.The first three syndrome elements of disease location were liver,stomach and spleen,and the disease nature syndrome elements were qi stagnation,qi deficiency and yin deficiency.Based on the clustering analysis of 18 common factor variables,combined with expert discussion,four main TCM syndrome types were obtained,which were liver-stomach stagnation heat syndrome(213 cases,26.63%),spleen-stomach damp heat syndrome(209 cases,26.13%),spleen-stomach deficiency and cold qi stagnation syndrome(190 cases,23.75%)and qi-phlegm stagnation syndrome(188 cases,23.50%).There was no significant difference in the distribution of TCM syndrome types among patients with different genders,ages and BMI values(P>0.05).Patients with a course of disease≥2 years and those residing long-term north of the Qinling-Huaihe Line showed a significantly higher prevalence of spleen-stomach dampness-heat syndrome(P<0.05).Conclusion The syndrome elements of disease location of overlapping NERD and EPS gastrointestinal symptoms are mainly liver,stomach and spleen.The TCM syndrome types are liver-stomach stagnation heat syndrome,spleen-stomach damp heat syndrome,spleen-stomach deficiency cold qi stagnation syndrome and qi-phlegm stagnation syndrome.The course of disease and the regional differences between north and south may be the influencing factors of the distribution of syndrome types.

Objective To explore TCM syndrome distribution law in patients with overlapping non-erosive reflux disease(NERD)and epigastric pain syndrome(EPS)gastrointestinal symptoms.Methods A multi-center,cross-sectional study was conducted to investigate the general information of 800 patients with overlapping NERD and EPS gastrointestinal symptoms in four hospitals,such as gender,age,body mass index(BMI)and four diagnostic information of TCM.Descriptive frequency analysis,factor analysis and clustering analysis were used to summarize the TCM syndrome types and distribution characteristics.Results The average age of 800 patients with overlapping NERD and EPS gastrointestinal symptoms was(44.50±14.43)years old,the average BMI was(23.17±4.80)kg/m2,and the male to female ratio was 3:5.Frequency of 95 TCM symptoms/signs≥20%.18 common factor variables were obtained based on factor analysis,and the cumulative contribution rate was 67.11%.The first three syndrome elements of disease location were liver,stomach and spleen,and the disease nature syndrome elements were qi stagnation,qi deficiency and yin deficiency.Based on the clustering analysis of 18 common factor variables,combined with expert discussion,four main TCM syndrome types were obtained,which were liver-stomach stagnation heat syndrome(213 cases,26.63%),spleen-stomach damp heat syndrome(209 cases,26.13%),spleen-stomach deficiency and cold qi stagnation syndrome(190 cases,23.75%)and qi-phlegm stagnation syndrome(188 cases,23.50%).There was no significant difference in the distribution of TCM syndrome types among patients with different genders,ages and BMI values(P>0.05).Patients with a course of disease≥2 years and those residing long-term north of the Qinling-Huaihe Line showed a significantly higher prevalence of spleen-stomach dampness-heat syndrome(P<0.05).Conclusion The syndrome elements of disease location of overlapping NERD and EPS gastrointestinal symptoms are mainly liver,stomach and spleen.The TCM syndrome types are liver-stomach stagnation heat syndrome,spleen-stomach damp heat syndrome,spleen-stomach deficiency cold qi stagnation syndrome and qi-phlegm stagnation syndrome.The course of disease and the regional differences between north and south may be the influencing factors of the distribution of syndrome types.

It is necessary to develop rapid and living guidelines in order to improve the evidence translation and guidance for clinical practice in emergency situations， and to enhance the participation of traditional Chinese medicine （TCM） in management of emergencies. This paper introduced the process of developing rapid and living guidelines of TCM and divided it into three stages， that is preparation， rapid development and dynamic updating， which highlights the features of rapid development， high quality， and dynamic updating and the integration with the predominance of TCM. By comparing with general guidelines on composition， personnel number， timing to formulate and communication patterns of the guideline working groups， as well as the content and number of clinical questions， this paper mainly gave suggestions on how to formulate a concise but authoritative team during the preparation stage， how to efficiently manage the guideline team and promote the development process from conflict of interest management， working and communication mode adjustment， and how to formulate and update the important and prioritized clinical questions， all of which may provide reference for the development of TCM rapid and living guidelines.

Objective:To analyze the clinical, genetic, and bioinformatic characteristics of 3 children diagnosed with GM1 gangliosidosis type Ⅰ, and to conduct a literature review.Methods:From January 2020 through December 2022, a detailed examination, encompassing whole-exon sequencing and the evaluation of β-galactosidase enzymatic function, was undertaken for 3 pediatric inpatients at Xi′an Children′s Hospital. Each child presented with distinct clinical features: recurrent seizures, developmental delays, and hypotonia. Concurrently, computational tools MutaBind2 and PyMOL were employed to prognosticate the potential impact of identified genetic mutations.Results:All 3 children experienced severe developmental delay or regression in infancy, accompanied by epilepsy. Serum alkaline phosphatase and aspartate aminotransferase were significantly increased. Furthermore, the serum β-galactosidase activity was 1.59%, 3.47%, 1.96%,respectively. Brain magnetic resonance imaging revealed poor myelination and X-ray examinations demonstrated beak-like changes in the anterior edge of the lumbar spine. All 3 children carried compound heterozygous variants in the GLB1 gene. The c.148T>C variant had not been previously reported, while the c.785G>T, c.1438A>G and c.304C>G variants were only present in 1 case. It was predicted that the mutated protein exhibited reduced binding affinity, with an interrupted hydrogen bond or the formation of a significant steric hindrance with the neighboring residues. Combined with the literature evidence, it was hypothesized that the mutations could potentially impact the overall structure and stability of the GLB protein, leading to a decrease in enzyme activity. Conclusions:The diagnosis and classification of GM1 ganglioside storage disease need to integrate the clinical features, exome sequencing and β-galactosidase activity assay. Bioinformatics analysis is helpful to predict the effect of mutations on protein structure and function.

OBJECTIVE: To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants. RESULTS: Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. CONCLUSION Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.
Child ; China ; Developmental Disabilities/genetics* ; Humans ; Language ; Mutation ; Pedigree ; Phenotype ; Transcription Factors/genetics*

OBJECTIVE: To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants. RESULTS: The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs*15) and c.4954_4957delACGT (p.Thr1652Glyfs*31). Both variants were unreported previously. CONCLUSION The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Facies ; Hand Deformities, Congenital/genetics* ; Humans ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Neck/abnormalities* ; Transcription Factors/genetics*

OBJECTIVE: To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation. METHODS: Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed. RESULTS: The child was found to harbor a heterozygous NM_001193416.3: c.1332_1333delCT (p.Leu445Serfs*19) variant of the DDX3X gene. The same variant was not found in either of her parents. CONCLUSION The child was diagnosed with X-linked mental retardation due to variant of the DDX3X gene. Above finding has enriched the spectrum of DDX3X gene variants and provided a basis for clinical diagnosis and prenatal diagnosis for this pedigrees.
Child ; DEAD-box RNA Helicases/genetics* ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/genetics* ; Mutation ; Pedigree ; Pregnancy ; Exome Sequencing

Objective To explore the effect of first-line anti-tuberculosis treatment on vitamin D level in patients with pulmonary tuberculosis,and to master the changes of vitamin D level in the course of treatment,so as to provide a scientific basis for tuberculosis and nutrition health education in Shenzhen.Methods A total of 100 patients diagnosed as smear-positive pulmonary tuberculosis and receiving initial treatment in 2016 were enrolled and all the patients were treated with the standardized short-course chemotherapy regimens.The blood samples were extracted before treatment and at the ends of intensive and continuation phase.The 25-hydroxyvitamin D [25-(OH) D] concentrations were determined by chemiluminescence (CLIA) at each time point.The change of 25-(OH) D concentrations during anti-tuberculosis treatment was analyzed and the differences of vitamin D levels between different time points were identified.Results 79 (79.0％),94 (94.0％) and 96 (96.0％) patients were found vitamin D deficiency before treatment and at the end of the intensive and continuation phases respectively,which showed an upward trend (x2=15.543,P＜0.001) and the 25-(OH)D concentrations were (15.74±6.54) ng/ml,(12.56±5.15) ng/ml,(11.51±4.28) ng/ml,respectively.During the whole course of treatment,the 25-(OH) D concentration decreased by 26.9％ or (4.23 ± 6.75) ng/ml (t =6.257,P＜0.001),wherein it decreased (3.18 ± 5.24) ng/ml in intensive phase (t =6.069,P＜ 0.001) and (1.05±4.86) ng/ml in continuation phase (t =2.154,P =0.034).The former had a greater decreased value (t=2.836,P=0.006).There were 77 (77.0％) and 55 (55.0％) patients with 25-(OH)D concentration reduction in intensive and continuation phases respectively (x2 =9.680,P =0.003),of which 41 patients (41.0％) continued to decline.Conclusion Once anti-tuberculosis treatment is conducted,the vitamin D level will decrease rapidly in the intensive phase and continue decreasing throughout the course of treatment,which leads to a general lack of vitamin D in patients with primary pulmonary tuberculosis.First-line anti-tuberculosis drugs may be the main cause for vitamin D level reduction.Therefore,it is necessary for clinicians to strengthen vitamin D health education for each patient throughout the treatment period,especially for those at high risk of vitamin D deficiency who should be recommended adjuvant vitamin D supplementation therapy.

Objective To clarify the status of tobacco exposure and identify risk factors of smoking among smear-positive pulmonary tuberculosis patients in Shenzhen,in order to provide a scientific basis for the formulation of tuberculosis-tobacco control strategy in Shenzhen.Methods From January to December 2016,a special survey was carried out in 8 districts in Shenzhen.A unified questionnaire was used to make face to face interviews for 958 smear-positive pulmonary tuberculosis patients registered in 2016.Descriptive statistics was conducted to analyze the status of tobacco exposure.Single factor analysis and multiple logistic regression were used to identify the important risk factors of smoking.Results Among smear-positive pulmonary tuberculosis patients in Shenzhen,the rates of general smoking,current smoking,regular smoking were 40.9％,34.2％ and 30％,respectively.All smoking rates were higher among male than female participants (x2=255.226,197.463 and 162.707,respectively,and the P values were all＜0.001);164cases of heavy smokers accounted for 50.0％ of current smokers.Among 392 smokers,64 had quitted smoking,and the rate of smoking cessation was 16.3％.Among 566 nonsmokers,the rate of passive smoking from cohabiting smokers was 17.8％ (101/566),and it was higher in female than male participants (23.1％ vs.12.3％,x2=11.219,P=0.001).In single factor analysis,gender,work or living environment,age,education level,marital status,and body mass index were closely related to smoking (x2=255.226,28.375,40.922,29.585,9.117,and 7.052,respectively,and the P values were all＜0.05).In multiple logistic regression,the major risk factors for smoking included in the model were gender (x2=120.797,P＜0.001),age (x2=5.728,P=0.017),education level (x2=17.159,P＜0.001),mode of case-finding (x2=3.670,P=0.055),work or living environment (x2=6.039,P=0.049),and marital status (x2=5.091,P=0.078).Conclusion The smoking status of smear-positive pulmonary tuberculosis patients was serious in Shenzhen.Tuberculosis patients were the key smokers.We should provide accurate intervention and health guidance for patients,such as,macro policy guidance,instillation of knowledge,mental health intervention,and smoke-free environment.

Objective: To determine the levels of vitamin D in patients with pulmonary tuberculosis in Shenzhen and identify the influencing factors of vitamin D levels and key groups of vitamin D deficiency, so as to provide a scientific basis for tuberculosis- and nutrition-related health education and promotion in Shenzhen. Methods: Patients with smear-positive pulmonary tuberculosis who were diagnosed in 2016 were selected as the research subjects. Their relevant information and blood samples were collected, and the sample pool was established according to the inclusion criteria. One hundred and twenty patients were selected based on simple random sampling, including 84 men (70.0%) and 36 women (30.0%). Blood 25-hydroxyvitamin D [25(OH)D] concentrations were measured using chemiluminescence technology. Vitamin D statuses in patients were statistically described, and vitamin D levels in patients with different characteristics were compared. Multivariate linear regression analysis was performed to identify important factors influencing vitamin D levels in patients. Results: Mean serum concentration of 25(OH)D in 120 patients was (40.2±16.0) nmol/L. There were 2 cases of vitamin D sufficiency (1.7%), 28 cases of vitamin D insufficiency (23.3%), and 90 cases of vitamin D deficiency (75.0%), of which 23 cases (19.2%) were of severe deficiency. 25(OH)D concentrations in patients with different lifestyles (indoors; indistinguishable indoors or outdoors; outdoors) were significantly different (35.3 nmol/L vs. 40.6 nmol/L vs. 49.5 nmol/L, F=8.274, P<0.001). Mean concentration of 25(OH)D in patients with sun exposure time of >30 min/d was higher compared to that in those with sun exposure time <30 min/d in the last month (46.4 nmol/L vs. 36.7 nmol/L, t=3.342, P=0.001). Multivariate linear regression analysis showed that the risk factors for 25(OH)D with statistical significance were Han ethnicity or not (β=-11.576, t=-1.991, P=0.049), housekeeping (including unemployment and retirement) or not (β=-6.136, t=-1.998, P=0.048), sun exposure time<30 min/d or none (β=-9.644, t=-2.829, P=0.006), body mass index (β=-2.056, t=-3.439, P=0.001) , and indoor degree of lifestyles (β=-4.419, t=-2.155, P=0.033). Conclusion Level of vitamin D is generally insufficient in patients with pulmonary tuberculosis in Shenzhen. It is necessary to strengthen health education related to vitamin D in patients with tuberculosis, especially in the high-risk population of vitamin D deficiency, such as in those with a lack of exposure to sunlight or high BMI.