[Objective] To explore the clinical features,genetic characters in family amyotrophic lateral sclerosis (ALS10)patients.[Methods] TARDBP gene mutations in Chinese Han family patients with ALS10 diagnosed by the First Affiliated Hospital of Sun Yat-sen University in 2013 was screened by high-throughput sequencing.[Results] There were 5 patients in three generations in this family.The initial symptoms in all affected members were distal limb muscle weakness and dystrophy at their 50 age.With a rapid progression of symptoms about 8 to 18 months.A homozygous missense mutation (c.892G＞A) were detected in TARDBP gene exon 6 of the propositus,as well as the other three family members without any clinical symptoms.[Conclusion] ALS10 is a faster progressive and shorter survival time FALS.Since there was no effective treatment in ALS10,hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

Objective:Based on the National Patent Database, this paper analyzes the medication rule of Traditional Chinese Medicine (TCM) compound patents for the treatment of colorectal cancer in the past 10 years.Methods:By searching for and extracted screening out TCM compound patents for the treatment of colorectal cancer and after the dada selection, data entry , data specifications, the compound patents database for the treatment of colorectal cancer was established. then used IBM SPSS Modeler and IBM SPSS Statistics software to perform frequency analysis, attribute analysis, association analysis and cluster analysis of TCM.Results:A total of 97 compound patents were included, including 411 TCM, among which the core medicines are Atractylodis macrocephalae rhizoma, Hedyotis diffusa, Astragali radix, Glycyrrhizae radix et rhizoma, Scutellariae barbatae herba, Poria, etc. The medicine is mainly cold and warm; The medicine mainly tastes bitter and sweet; The spleen meridian is the main meridian. The cluster analysis result shows there are 7 categories, and the paired TCM with strong correlation includes Hedyotis diffusa- Scutellariae barbatae herba, Atractylodis macrocephalae rhizoma- Curcumae rhizoma, Astragali radix- Codonopsis radix and so on. Conclusions:Treating colorectal cancer should take those medicine which could invigorate the spleen and nurture the deficiency, such as Atractylodis macrocephalae rhizoma, Astragali radix, Codonopsis radix, while for clearing away heat, detoxifying, promoting blood circulation and removing blood stasis, such as Hedyotis diffusa, Scutellariae barbatae herba, and Curcumae rhizoma. At the same time, it can be combined as appropriate, attacking and replenishing simultaneously, regulating qi and blood.

Objective:The medical records collected on the Ancient and Modern Medical Record Cloud Platform were used to explore the medication rules of Traditional Chinese Medicine for the treatment of ulcerative colitis.Methods:By selecting the medical cases of the modern medical database and medical cases of famous doctors in the ancient medical database on the cloud platform to analyze the frequency, attribution, association, and complex network of those medicines.Results:A total of 209 medical records were obtained, including 319 Traditional Chinese Medicines, of which the core medicines were Rhizoma Coptidis, Radix Aucklandiae, Poria, Radix Paeoniae Alba, and Radix Glycyrrhizae. The properties of those medicines were warm, mild, and cold. The main taste is bitter and sweet, and most of them attibute to spleen, stomach, and liver meridians. The core pair medicine is Radix Aucklandiae-Rhizoma Coptidis. The core prescription was composed of nine herbs including Rhizoma Atractylodis Macrocephalae, Radix Paeoniae Alba, Radix Scutellariae, Radix Aucklandiae, Rhizoma Coptidis, Radix Glycyrrhizae, Radix Pulsatillae, Poria, and Radix Codonopsis. Conclusion:The treatment of ulcerative colitis with Traditional Chinese Medicine mainly include Sijunzi Decoction and Xianglian Pill, accompanied with those medicines which could clear heat with detoxication function, cool the blood and stop diarrhea, By doing so, ulcerative colitis could be treated both in the surface and the root.

Objective:Based on the network pharmacology, this study preliminarily aims to explore the mechanism of Sijunzi Decoction in the intervention of colorectal cancer. Methods:The active components and targets of Sijunzi Decoction were gained by Traditional Chinese Medicine Pharmacology Database Systems (TCMSP); and the targets were standardized with the help of Uniprot database. The related targets of colorectal cancer were obtained by GeneCards database and Disgenet database, and the intersection targets of berbal medicine and diseases were screened by R language. The visual regulation network of "active ingredient-disease target" of Sijunzi Decoction was constructed by Cytoscape software, and the protein interaction network was constructed by STRING database. The functional enrichment analysis of gene ontology (GO) and the pathway enrichment analysis of Kyoto Encyclopedia of Gene and Genome (KEGG) were carried out by Bioconductor platform. Results:A total of 135 active components and 68 intersection targets of Sijunzi Decoction were obtained. The core target proteins included IL6, VEGFA, CASP3, EGFR and so on. GO functional enrichment analysis involved 91 items, which mainly affected transcription factor activity, enzyme activity, receptor activity and biochemical process regulation. KEGG pathway enrichment analysis contained 126 items, concerning infection, cancer, apoptosis, inflammation and other pathways. Conclusion:The active components of Sijunzi Decoction mainly regulate biological processes such as transcription factor activity and enzyme activity of colorectal cancer cells through cancer signal pathway and inflammatory signal pathway, so as to play a role of interventing of colorectal cancer.

OBJECTIVETo explore the significance of SMN1 gene mutations among patients with spinal muscular atrophy (SMA) and the value of multiplex ligation dependent probe amplification (MLPA) for its diagnosis.

METHODSPotential mutations of the SMN1 gene were detected among 78 SMA patients with a MLPA assay.

RESULTSHomozygous deletion of SMN1 exons 7 and 8 was detected in 70 (89.7%) of all patients. Homozygous deletion of exons 7 and heterozygous deletion of exon 8 was detected in 3 patients (3.8%). Homozygous deletion of SMN1 exons 7 alone was detected in 3 patients (3.8%). Heterozygous deletion of SMN1 exons 7 and 8 was detected in 2 patients (2.6%). For 77 of the patients, both parents were found to carry heterozygous deletion of the SMN1 gene, which was consistent with the recessive inheritance of SMA. One patient with SMA type I was found to be rather rare. The patient was found to carry homozygous deletion of SMN1 exons 7 and 8, for which her mother was heterozygous, while no mutation was found in her father.

CONCLUSIONHomozygous deletion of the SMN1 gene have been detected in more than 95% of SMA patients. No homozygous deletion of exon 8 has been found. Homozygous deletion of exon 7 is more significant in the pathogenesis of SMA.

Exons ; Female ; Gene Deletion ; Humans ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Atrophy, Spinal ; genetics ; Mutation ; Survival of Motor Neuron 1 Protein ; genetics

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL). METHODS: Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing. RESULTS: Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously. CONCLUSION Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.
Deafness/genetics* ; Hearing Loss, Sensorineural/genetics* ; Heterozygote ; Humans ; Microfilament Proteins/genetics* ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective:To explore the rules of Traditional Chinese Medicine (TCM) prescriptions of gastroesophageal reflux disease based on Ancient and Modern Medical Records Cloud Platform.Method:The relevant medical cases from ancient medical case database, modern medical case database, shared medical case database and famous doctors' medical case database in Ancient and Modern Medical Records Cloud Platform (V2.3.8) were selected, and frequency analysis, attribute analysis, association analysis, cluster analysis and complex network analysis were performed on the herbs.Results:A total of 107 medical records were obtained, including 225 TCMs. The core medicines were Radix et Rhizoma Glycyrrhizae, Pericarpium Citri Reticulatae, Rhizoma Coptidis, Poria, and Fructus Evodiae. The drug property was mainly cold and warm, and the herbal tastes bitter and pungent. The meridian tropism of drugs mainly manifested in the spleen and stomach meridians. The core herbal pairs were Radix et Rhizoma Glycyrrhizae and Pericarpium Citri Reticulatae. The core prescription consisted of 17 herbs including Radix Glycyrrhizae, Pericarpium Citri Reticulatae, Rhizoma Coptidis, Fructus Evodiae, Poria, Endoconcha Sepiae, Herba Taraxaci, Fructus Aurantii, Radix Paeoniae Alba, Radix Bupleuri, Jiang Banxia, Rhizoma Cyperi, Radix Aucklandiae, Caulis Bambusae In Taenia, Fructus Aurantii Immaturus, Fructus Amomi, and Rhizoma Atractylodis Macrocephalae. Conclusions:Chinese medicine treatment of gastroesophageal reflux disease is mainly based on Chaihu Shugan Powder, Zuojin Pill, and Wendan Decoction. Moreover, we need to combine with clinical symptoms to add or subtract herbs.

Objective: To analyze the detection rate of sleep problems such as sleep delay and deficiency in preschool children in the middle and lower reaches of the Yangtze River in China,and to provide the reference for the standard of sleeping mode among preschool students. Methods: From October to November 2017, a questionnaire survey was conducted among 27 200 preschool children in 11 cities in Hubei, Anhui and Jiangsu provinces in the middle and lower reaches of the Yangtze River in China. Epidemiology of sleep delays, deficiencies and sleep patterns in preschool children was described. Results: The detection rate of sleep problems in preschool children in the middle and lower reaches of the Yangtze River was 15.3%. Taking the length of sleep and bedtime as the main analysis points, it was found that the average sleeping time point of each age group was 21:31, and the detection rate of bedtime delay was 86.5%. The average length of sleep was (10.60±1.12) hours. The detection rate of sleep deprivation in preschool children was 15.7%. Sleep delay was positively correlated with girls, age increase and parents’ higher educational level (P<0.05), and negatively correlated with living in the city, non-only child and bedroom without TV (P<0.01) .The detection rate of sleep deprivation was positively correlated with children of high age group (4yearold group：OR=1.32，95%CI=1.19-1.46；5-year-old group：OR=2.10，95%CI=1.91-2.32；6-year-old group：OR=2.47，95%CI=2.20-2.77)(P<0.01), and negatively correlated with no TV in bedroom (OR=0.91，95%CI=0.84-0.98) and no light in sleep (OR=0.87，95%CI=0.78-0.97)(P<0.05). Conclusion Preschool children sleep delay and sleep deprivation and other sleep problems are more prominent, affected by family environment and other factors.

OBJECTIVETo discuss the distribution of the respiratory complications in severely burned patients and the prevention and treatment experience against them.

METHODSMedical records of 922 adult patients with severe or extremely severe burn hospitalized in our burn ICU from January 2005 to December 2012 were screened and retrospectively analyzed, including patients transferred from other hospitals, patients with total burn area above 50% TBSA, the distribution and treatment of respiratory complications, and the mortality. Data were processed with chi-square test.

RESULTSThe constituent ratio of patients transferred to our hospital was 71.1% in 2007 and 40.2% in 2010, while it remained about 50.0% in the other years. The ratios of patients with total burn area larger than 50% TBSA and that of patients with respiratory complications (χ(2) = 2.637, P > 0.05) showed no significant changes each year. Among these 922 burn patients, 523 patients suffered respiratory complications, among which laryngeal edema (50.9%, 266 cases), pulmonary infection (21.6%, 113 cases), and ARDS (11.9%, 62 cases) were the main components, with no significant change each year (with χ(2) values respectively 6.132, 6.319, 0.016, P values above 0.05). Among the patients with respiratory complications, except for 36 were not treated actively, 487 were treated by ventilator among which 228 had undergone tracheostomy, and the constituent ratios in the 8 years were close. Fifteen patients died, with 2 died of laryngeal edema, 3 of ARDS, and 10 of sepsis or MODS as a result of sepsis.

CONCLUSIONSPatients with severe burns were at high risk of respiratory complications, among which laryngeal edema was common, followed by pulmonary infection and ARDS. Prophylactic tracheostomy, mechanical ventilation, wound therapy, and anti-infection were all effective measures of prevention and treatment against these complications.

Adult ; Aged ; Burns ; complications ; therapy ; Humans ; Laryngeal Edema ; etiology ; physiopathology ; therapy ; Lung ; physiopathology ; Respiration, Artificial ; Respiratory Distress Syndrome, Adult ; etiology ; physiopathology ; therapy ; Retrospective Studies ; Sepsis ; etiology ; physiopathology ; therapy ; Treatment Outcome

Objective: To explore the blood lead level and its relationship with behavior in school-age children from rural areas of Chongqing. Methods: A total of 697 students from grades 3 to 6 in the fall semester of 2014 from 14 rural townships in one district of Chongqing was selected by using the random cluster sampling method. Blood were sampled to analyze the lead level. Neurobehavioral tests were performed to determine their personal cognitive and memory ability. Questionnaires and physical examinations were administered to obtain the information of confounding factors. All students were divided into Q₁-Q₄ groups according to the quartile of their blood lead level. The relationship between the blood lead level and behavior was analyzed by multivariate logistic regression model and restricted spline regression model. Results: The mean age of 697 students was (10.07±1.36) years old, and the median (interquartile range) of their blood lead level was 44.31 (35.42) μg/L. Multivariate logistic regression model showed that after adjusting for age, gender, body mass index and maternal culture level, compared with Q₁ group, the OR (95%CI) values of high digit symbol substitution test (DSST) scores and high overall memory quotient (MQ) scores in Q₃ group were 1.65 (1.01-2.70) and 2.10 (1.21-3.62), and the OR (95%CI) value of high long term memory (LTM) scores in Q₄ group was 0.53 (0.31-0.92). The results of the restricted spline regression model showed that the dose-response curves between the blood lead level and MQ/LTM test scores were both parabolic (P<0.05). Conclusion The blood lead level of school-age children from rural areas of Chongqing is the same as that from other areas of China, but slightly higher than that from other areas of Chongqing. Children with higher blood lead level have poor long-term memory ability.