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OBJECTIVE@#To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD).@*METHODS@#Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter.@*RESULTS@#The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance.@*CONCLUSION@#Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
Subject(s)
Humans , Autism Spectrum Disorder/genetics , Genomics , Heterozygote , Mosaicism , Exome SequencingABSTRACT
OBJECTIVE@#To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene.@*METHODS@#The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant.@*RESULTS@#The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function.@*CONCLUSION@#The KIF1A gene may be a risk gene for ASD.
Subject(s)
Child , Female , Humans , Pregnancy , Autism Spectrum Disorder/genetics , Kinesins/genetics , Mutation , Mutation, Missense , Protein Domains , Exome SequencingABSTRACT
To meet the requirement on trauma database construction and trauma care quality evaluation for trauma center by National Health Commission of the People’s Republic of China, the authors put forward the basic fields of trauma database and determine the basic content of trauma database V4.0 by referring to the National Trauma Database content of US based on the fields of trauma database V3.0 and guided by the requirement of trauma care quality control and clinic research. This database consists of 137 fields, covering the whole process of trauma occurrence, first aid, diagnosis, treatment and outcome. Thirty-five quality control indices for trauma care are established. Preliminary application of trauma database V4.0 shows that it meets the basic requirements of trauma center construction and clinical research in China.
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Objective To observe the effects of seawater immersion at different temperatures on survival time and mortality and physiological state of non-anesthetized rats.Methods Totally 100 SD male rats(The abdominal cavity was implanted with a temperature sensor in advance)were randomly divided into five groups which were immersed in 20 ℃,17 ℃,15 ℃,13 ℃ and 10 ℃ seawater,respectively.Each group contains 20 rats.The changes of respiration,heart rate and muscle fibrillation within 2 hours were observed and the survival time and mortality of each group were counted in 24 hours.The decrease trend of intraperitoneal temperature in rats was analyzed retrospectively within 2 hours.Results Soaking for 10 minutes,the respiratory and heart rate of each group were significantly increased,but there was no significant difference among groups(P>0.05).The respiratory and heart rate decreased rapidly between 10 and 40 minutes,and the decline was slower relatively between 40 and 80 minutes.Soaking for 80 minutes,the respiration rate of rats among groups had significant difference(P0.05),hereafter the muscle fibrillation was maintained at a certain level.The mean survival time of 20 ℃ group,17 ℃ group,15 ℃ group,13 ℃ group and 10 ℃ group in 24 hours were(23.6±1.23)hours,(15.0±4.16)hours,(7.7±3.21)hours,(2.4±0.91)hours and (1.1±0.39)hours,respectively,and the survival curve of each group was statistically significant(P<0.05).The intraperitoneal temperature of rats showed a decline in the cliff,the lower the water temperature,the faster the descending.Soaking for 40 minutes,the difference of intraperitoneal temperature of each group was statistically significant(P<0.05).Conclusion The effects of seawater immersion at different temperatures on the physiological state and survival time and mortality of rats are significantly different.With the decrease of water temperature,the physiological state changes more obviously,the survival time is shorter and the mortality rate is higher.
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Objective To investigate the characteristics of spinal injury caused by earthquake as well as to improve its therapeutic ability by comparatively studying the medical records of the inpatients with spinal injuries caused by Wenchuan earthquake and the inpatients with spinal injuries in peace time.Methods Medical records of inpatients with spinal injuries were extracted from 5.12 earthquake injury database(earthquake group) and medical records of the patients with spinal injuries firstly admitted to Daping Hospital between 2001 and 2007 were extracted from Chinese trauma database systems (control group).The epidemiological characteristics of the two groups were comparatively studied,including gender,age,injury causes,injury severity,treatments and outcomes.Results (1) The incidence of spinal injuries in the earthquake group was 16.7％ (524/3145),which was significantly higher than that (6.4％,682/10644) in control group (P＜0.01).(2) The female ratio in the earthquake group was significantly higher than that in the control group (57.4％:31.8％) (P＜0.01).(3) The age range of the earthquake group was (47.9 ±20.9) years.The wounded number presented an undulately rising trend in the earthquake group as the growth of age,while it showed a parabolic distribution in the control group.(4)The main causes for spinal injuries were crush injury (69.3％) and multi-factor injury (2.8％) in the earthquake group,while slipping up/fall (56.0％) and traffic accidents (23.6％) were the main causes in the control group.(5) There were 82.3％ of the earthquake group that were combined with multiple injuries and 48.1％ combined with at least two injuries,while the control group accounted for only 28.9％ and 12.0％ respectively.The NISS (new injury severity score) in the earthquake group was significantly higher than that in the control group [(11.6±8.8) points vs (7.5±4.8)points](P＜0.01).Meanwhile,the proportion of NISS≥16 in earthquake group was significantly higher than that in the control group as well (P＜0.01).(6) The length of hospital stay of the wounded in the earthquake group was significantly longer than that in control group [(40.5±24.5)d VS (23.9±26.7)d](P＜0.01).The treatment inefficiency rate in the earthquake group was higher than that in the control group (9.2％ vs 4.8％) (P＜0.01).Conclusions The earthquake group has a higher proportion of spinal injuries,female and elder cases,and combined injuries,a much severer injury,a longer length of hospital stay,and a higher treatment inefficiency rate,as compared with the control group.In the earthquake relief,more importance should be attached to salvage,diagnosis,transfer regulation and missed diagnosis,misdiagnosis and secondary injury should be avoided so as to improve the treatment level of the spinal injuries in earthquake.
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Objeetive To analyze traffic accidents involving pedestrians in Chongqing from 2000 to 2006 so as to understand injury characteristics of the pedestrians. MethodsThe data of pedestrian road traffic crashes and injuries in three districts including one district in downtown,one in suburb and one in county of Chongqing from 2000 to 2006 were collected from road traffic crash and road traffic injury database to analyze severity of crashes,casualties,action and location of pedestrians in crashes. Results The road crashes led to 7 934 pedestrian injuries (24.74％) and 867 pedestrian deaths (49.46％).Intensity of the pedestrian road crashes in rural areas was higher than that in downtowns and suburbs.Of all pedestrian casualties,57.91％ were due to illegally crossing the driveway,and 15.43％ of the casualties were on the crosswalk.Most of the casualties occurred on the main roads,the third class highways and second main roads in Chongqing.But serious crashes occurred on the first and second class highways and substandard highways,which led to average 3.17,4.13 and 5.42 deaths,respectively.Pedestrians accounting for 52.46％ of the total severe injuries were more than the proportion among the minor to moderate injuries.Head injuries were the most common for the pedestrians and chest injuries were also usual among the severe injuries. Conclusions The intensity of pedestrian road crashes is higher than that of other crashes,especially in rural areas.It should be noticed that the main injuries of the pedestrians are head injuries,which is mainly resulted from illegally crossing driveway.It is worth noticing that a rather high proportion of pedestrians are impaired on the crosswalks,indicating that we should pay more attention to protect right of the pedestrians on the crosswalks during transportation law enforcement and safety education in the future.
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Objective To develop a special seismic trauma database that could record and analyze the data including injuries, trauma cares and outcomes. Methods (1) The items and content of the database were determined based on the method of evidence-based medicine. (2)The fields, tables, items and options of the seismic trauma database were designed. (3) The database software was developed based on dot net framework platform, with C# as programming language. (4)The database was used to record and manage data of injuries caused by 5.12 earthquake. Results The Seismic Trauma Database Version 1.0 was developed with 728 fields (including 380 inner fields) and normative content and structure. The database software could record 10 aspects of the seismic patients including basic information, injuries, transfer and evacuation, clinical medical care, outcome and discharge. The database software had combination, custom queries and meta-analysis functions. Conclusions This database software can conveniently and normally record and manage the information of the seismic patients, can systemize and analyze the data conveniently and is an excellent data platform for trauma care research and epidemiologic study of seismic injuries.
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Objective To establish an autoregression moving average (ARMA) model for predicting general traffic accidents and analyzing distributional difference on time series and frequency of common traffic accident so as to provide certain basis for a prediction model with better stability and accuracy. Methods The data of road traffic accidents in one newly developed zone of Chongqing in 2000-2005 were collected. The monthly distribution regularity of road traffic accidents was analyzed with descriptive epidemiologic method. ARMA model was set up for retrospective and prospective prediction. The predicted data were compared. Results Based on the characteristics of monthly distribution, the frequency of general traffic accidents in this area showed a cyclic fashion. The frequency of general traffic accidents predicted by ARMA model had over 80% of coincidence with the actual value. Conclusion The ARMA model can be used to predict the frequency of general traffic accidents, with better accuracy of short-term prediction than the long-term prediction.