A diagnostic prediction nomogram for small gastric stromal tumors based on features under endoscopic ultrasonography / 中华消化内镜杂志

Objective:To establish a nomogram based on features under endoscopic ultrasonography (EUS) for predicting the diagnosis of small gastric stromal tumors.Methods:The clinicopathological data of 189 patients with gastric submucosal tumors (diameter less than 2 cm) who underwent endoscopic resection at the Department of Gastroenterology, Tongji Hospital of Tongji University from June 2015 to August 2021 were retrospectively collected. All patients were divided into the modeling group ( n=126) and the validation group ( n=63) at 2∶1 by random function of software R. Independent influencing factors for the diagnosis of small gastric stromal tumors under EUS screened by univariable and multivariable logistic regression analysis were used to establish the diagnostic prediction nomogram. The receiver operator characteristic (ROC) curves were drawn to evaluate the discrimination of the model both in the modeling group and the validation group. Hosmer-Lemeshow test and calibration curve were used to evaluate the calibration of the model in both groups. Results:The age of patients >60 years ( OR=2.815, 95% CI:1.148-6.900, P=0.024), the lesions located in cardia/fundus ( OR=5.210, 95% CI:1.225-22.165, P=0.025), originated in muscularis propria ( OR=6.404, 95% CI:2.262-18.135, P<0.001) and of external growth ( OR=6.024, 95% CI:1.252-28.971, P=0.025) were independent influencing factors for the diagnosis of small gastric stromal tumors under EUS. The diagnostic prediction nomogram was established based on the four factors above. The areas under ROC curve of the modeling group and validation group were 0.834 (95% CI:0.765-0.903) and 0.780 (95% CI:0.667-0.893). Hosmer-Lemeshow test indicated that this model fit the data well ( χ2=10.23, P=0.176 in the modeling group; χ2=2.62, P=0.918 in the validation group). Calibration charts of the model drawn by Bootstrap method showed that the calibration curves fit well with the standard curves in both groups. Conclusion:The nomogram based on features under EUS for predicting the diagnosis of small gastric stromal tumors provides a visual reference for endoscopists to diagnose small gastric stromal tumors under EUS with good discrimination and calibration.

Circular RNA circATL2 regulates radiosensitivity of rectal cancer via miR-205 / 中华放射肿瘤学杂志

Objective:To investigate the effect and mechanism of circular RNA (cirRNA) on the radiosensitivity of rectal cancer.Methods:The differential circRNAs in radiosensitive and radioresistant rectal cancer tissues (biopsy tissue before radiotherapy and chemotherapy) were detected by gene sequencing, and the effect of circRNAs on the radiosensitivity of colorectal cancer cells was further confirmed in vitro. Results:Through gene sequencing of rectal cancer tissue samples, 64 circRNAs were found to be highly expressed in radiosensitive rectal cancer tissues, and 36 circRNAs were lowly expressed in radiosensitive tissues. Ten differential circRNAs were selected and verified by qRT-PCR, and it was found that circATL2 was highly expressed in radiosensitive rectal cancer tissues. In vitro cell experiment indicated that up-regulation of circATL2 expression could significantly improve the radiosensitivity of rectal cancer. Subsequently, 8 miRNAs lowly expressed in radiosensitive rectal cancer tissues were analyzed. The direct binding relationship between miR-205 and circATL2 was confirmed by dual luciferase reporter assay. The rescue experiment confirmed that circATL2 in rectal cancer regulated the radiosensitivity of rectal cancer through miR-205. Conclusion:circATL2 regulates the radiosensitivity of rectal cancer by binding to miR-205.

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex

Background@#Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy. @*Objective@#To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS. @*Methods@#Our study included two patients, other healthy members of the family, and 100 normal controls. Genomic DNA samples were isolated from each participant, and then polymerase chain reaction (PCR) direct sequencing was performed. @*Results@#The results of PCR direct sequencing revealed a novel heterozygous missense mutation in codon 461 of exon 7 of KRT5 (c.1382T＞C), which led to an amino acid change (p.L461P) in the patients with EBS but was absent in unaffected family members and 100 unrelated control samples. @*Conclusion@#The present study broadens the mutational spectrum of EBS, and this knowledge could be harnessed for prenatal screening, gene diagnosis, and gene therapy for lo-calized EBS.

Metformin inhibits apoptosis by regulating TET2-Foxo3a pathway after spinal cord injury / 中华骨科杂志

Objective:Through TTC staining, immunohistochemical analysis, RT-PCR and hind limb motor function evaluation and other experimental methods, to explore the regulatory mechanism of metformin on anti-apoptosis in rats with spinal cord injury (SCI).Methods:Establish a rat spinal cord injury model. Through Basso-Beattie -Bresnahan locomotor rating scale (BBB) and cant test to evaluate the recovery of hindlimb motor function in rats. The changes of necrotic area of spinal cord tissue were compared by TTC staining. Extraction of rat spinal cord tissue, by Dot blot analysis and immunohistochemical detection of the hydroxyl of DNA methylation level. By qPCR, Western Blot detection TET2mRNA and protein expression level, and the changes in the scope of spinal cord injury were detected by inhibiting the expression of TET2. The interaction between TET2 and Foxo3a was detected by immunoblotting and immunoprecipitation. Through RT-PCR assay Foxo3a downstream related changes in the level of gene expression.Results:Compared with the SCI+NS group, the necrotic area of the spinal cord tissue was reduced after metformin treatment, and the BBB score and the incline test score were higher ( P<0.05). At the same time, we found that the levels of TET2mRNA and protein increased significantly after SCI at 24 h, and the 5-hmC level of DNA increased. The levels of TET2mRNA and protein and 5-hmC increased further after the use of metformin. After using SC-1, compared with the SCI+MET group, the level of 5-hmC decreased and the area of infarction increased. After SCI, the mRNA levels of downstream genes Bim, P27kip, Bax increased significantly. After metformin treatment, the mRNA levels of Bim and Bax were lower than those in the SCI+NS group ( P<0.05). After SCI, the 5-hmC levels of downstream genes Bim, P27kip, Bax increased significantly. After metformin treatment, the 5-hmC levels of Bim and Bax were lower than those in the SCI+NS group ( P<0.05). Conclusion:Metformin can promote the interaction between TET2 and Foxo3a, increase the 5-hmC level of the overall DNA, and inhibit the activation of related apoptosis genes, thereby improving tissue damage and nerve function recovery after spinal cord injury.

Effects of patient participation -based dietary intervention on nutritional status for patients with severe burns / 中国实用护理杂志

Objective:To explore the influence of patient participation-based dietary intervention on nutritional status for patients with severe burn.Methods:From September 2017 to January 2019, 60 severe burn patients hospitalized in the department of burn and plastic surgery of Qingdao Municipal Hospital were recruited and divided into the experimental group ( n=30) and the control group ( n=30) according to the random number table method. The control group received a regular diet. While the experimental group received a patient participation-based dietary intervention(PPDI), The wound healing time and the value of nutritional status index, such as height, body mass index(BMI), serum albumin, serum prealbumin, in the two groups on admission, at 2 weeks after intervention, 4 weeks after intervention were compared. The nutritional knowledge questionnaire of burn patients and "3-day diet diary" were used for investigation. Results:The score of nutritional knowledge showed no significant difference between the two groups before intervention. After intervention, the score of nutritional knowledge in the experimental group was 21.40±2.42, significantly higher than that in the control group (19.00±2.26) ( t value was 3.975, P<0.01). For time effect and between-group effect, there were significant difference in serum albumin between two groups ( F values were 9.232, 4.651, P<0.05); the time effect and between-group effect of serum prealbumin were statistically significant ( F values were 11.592, 6.228, P < 0.05). The wound healing time in the experimental group was significantly lower than that in the control group ( t value was -3.801, P<0.01). Conclusions:Patient participation-based dietary intervention can effectively enhanced the level of nutritional knowledge, improved nutritional status, shortened wound healing time among patients with severe burn.

Effects of salvianolic acid B on the migration and tube formation of high glucose-induced retinal vascular endothelial cells and the underlying mechanism / 国际中医中药杂志

Objective:To observe the effects of salvianolic acid B on migration and tube formation of the retinal vascular endothelial cell (RVEC) in high glucose, and explore its mechanism with network pharmacology.Methods:The cells were divided into normal group, model group and 1.0, 0.5, 0.1 μg/ml salvianolic acid B group according to the random number table method. The cells of each group were added with 5.5 mmol/L glucose for intervention, and the salvianolic acid B group was added with 1.0, 0.5, and 0.1 μg/ml salvianolic acid B for intervention. After 72 h, the cell viability of each group was detected by the CCK-8 method. The cells were divided into normal group, model group and low-, medium-, and high-dose salvianolic acid B group according to the random number table method. Then the cells of the normal group were added with 5.5 mmol/L glucose; the model group was added with 25 mmol/L glucose; the low-, medium-, and high-dose salvianolic acid B group was added with 25 mmol/L glucose and 0.062 5, 0.1250, 0.250 0 μg/ml salvianolic acid B. Then by taking Transwell test to detect the number of cell migration, and Matrigel test to analyze the total length of cells tubes. The active targets of Salvianolic acid B were screened by SuperTarget and Swiss TargetPrediction. Then, the targets of diabetic retinopathy were obtained by searching the GAD database, pharmGkb database, TTD database, DiGSeE database and OMIM database. The effective targets of drug-disease interaction were screened, and the component-target-disease interaction network was constructed by Cytoscape. Finally, the effective targets were analyzed by DAVID for GO analysis and KEGG pathway enrichment analysis. Molecular docking was performed by using Accelrys Discovery Studio Client 2.5 software.Results:The CCK-8 method showed that the cell absorbance values of 0.5 and 0.1 μg/ml salvianolic acid B group were not significantly different from those of the normal group ( P>0.05). The results of Transwell experiment and Matrigel experiment showed that compared with the model group, the relative number of migrating cells and the total length of tubule formation in each dose group of salvianolic acid B decreased ( P<0.05 or P<0.01). The interaction network revealed that salvianolic acid B acted on 46 targets and 8 signaling pathways. Conclusions:Salvianolic acid B could inhibit the migrating and tube forming ability of RVEC cultivated by high glucose. The results suggest that salvianolic acid B may play roles in preventing diabetic retinopathy.

Serum microRNA-381: A Potential Marker for Early Diagnosis of Gastric Cancer

PURPOSE: The purpose of this study was to explore the potential early diagnostic value of serum microRNA-381(miRNA-381) in patients with gastric cancer (GC). MATERIALS AND METHODS: Patients with advanced gastric cancer (AGC) and early gastric cancer (EGC), as well as healthy individuals, were enrolled in this study. Expression of miRNA-381 in serum was detected using real-time quantitative PCR. Electrochemiluminescence analysis was used to investigate the expression of classic tumor markers, including carbohydrate antigen (CA) 199, CA724, and carcinoembryonic antigen. Finally, receiver operating characteristic curve and Kaplan-Meier analysis were used to determine the value of miRNA-381 in clinical diagnosis of GC. RESULTS: miRNA-381 was differentially expressed among the study groups. AUC analysis showed that the sensitivity and specificity of serum miRNA-381 in the diagnosis of GC were superior to those of other tumor markers. Furthermore, low levels of miRNA-381 expression were positively correlated with lymph node metastasis and AGC. Finally, Kaplan-Meier survival analysis showed that down-regulation of miRNA-381 was associated with lymph node metastasis and the development of GC. CONCLUSION: miRNA381, which was down-regulated in GC, might be a novel early diagnosis marker for patients with GC.

Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinical phenotypes of a pedigree affected with periodic paralysis and explore its molecular basis.</p><p><b>METHODS</b>Clinical data and peripheral blood samples of the pedigree were collected. The proband and his father both complained of periodic paralysis and dysmorphic features. The exome of the proband was screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected mutations were subjected to bioinformatic and gene-disease correlation analysis.</p><p><b>RESULTS</b>A c.653G>A (p.R218Q) mutation of the KCNJ2 gene was detected in both the proband and his father. Bioinformatics analysis suggested it to be pathogenic.</p><p><b>CONCLUSION</b>The clinical manifestation of the pedigree was suggestive of Andersen-Tawil syndrome. KCNJ2 c.653G>A (p.R218Q) was the pathogenic mutation in this pedigree.</p>

Intervention and prevention against irrational medication orders on antineoplastic drugs and total parenteral nutrition solution / 药学实践杂志

Objective To study the irrational intravenous (IV) medication orders and promote rational medication applications.Methods A retrospective analysis was conducted to analyze the irrational prescriptions from January to December 2016.Results Among 39 948 IV medication orders reviewed, there were 134 irrational prescriptions of cytotoxic drugs (0.33％) and 222 irrational prescriptions of total parenteral nutrition(TPN)(0.56％).Within 356 irrational prescriptions, 19 had improper amount of diluent(5.34％), 95 inappropriate dosage(26.69％), 12 drug incompatibility(3.37％), 8 wrong diluent (2.24％) and 222 inappropriate TPN orders (62.36％).Conclusion The interventions of the clinical pharmacists are needed to reduce medication errors and improve the drug safety and effectiveness.

The clinical effect of high frequency repetitive transcranial magnetic stimulation combined with cognitive intervention for stroke patients with aphasia / 中国医学装备

Objective: To discuss the applied effect of high frequency repetitive transcranial magnetic stimulation combined with cognitive intervention for stroke patients with aphasia. Methods: 84 stroke patients with aphasia were divided into observation group (42 cases)and control group (42 cases). Patients of control group were treated by routine intervention of language training, while patients of observation group were treated by high frequency repetitive transcranial magnetic stimulation combined with cognitive intervention. A series of evaluated indicators, such as the language function score of Boston diagnostic aphasia examination(BDAE), the anxiety symptom score of Hamilton anxiety scale(HAMA), the quality of life and degree of satisfaction, were adopted to compare the post-treatment effect for the two groups. Results: After the treatment, there were statistical significance in the difference of understanding, retelling ability, reading ability and writing ability about BDAE scores between the two groups (t=3.572, t=4.482, t=6.238, t=3.013; P<0.05), and the HAMA scores of observation group was significant higher than those of control group (t=3.472, P<0.05). Besides, through different interventions, the series of indicators about quality of life, such as physical function, mental function, social function and material function, of observation group were higher than those of control group (t=4.513, t=3.923, t=4.473, t=4.033; P<0.05). And the satisfaction of observation group was significant higher than that of control group (x2=5.233, P<0.05). Conclusion: The clinical effect of high frequency repetitive transcranial magnetic stimulation combined with cognitive intervention for stroke patients with aphasia is favorable. And this method can increase quality of life and satisfaction for patients, and can extremely reduce medical dispute and improve the therapeutic level of hospital for stroke patients with aphasia.

Disinfection for Prosthetic Sockets in 19 Wearers / 中国康复理论与实践

Objective To explore the possibities of routine disinfection for prosthetic sockets. Methods From June to August, 2016, 19 lower limbs prosthesis wearers wiped their prosthetic socket surfaces and sprayed the stump socks with a compound of quaternary ammoni-um salt every night for three weeks. Meanwhile, field investigation and sampling were carried out weekly. Staphylococcus aureus, Pseudo-monas aeruginosa, Escherichia Coli and Candida albicans were isolated and identified, and colony counting was carried out. Results After disinfection, the number of bacteria on the prosthetic socket reduced 1.8-3.0 log, and the number of fungi reduced 1.6-1.9 log. One strain of Staphylococcus aureus and one strain of Escherichia Coli were isolated before disinfection and one strain of Pseudomonas aeruginosa was isolated after disinfection. Eczema and itching symptoms relieved or disappeared and deodorant effect was distinguished after continuous disinfection. Conclusion Disinfection on prosthetic sockets with compound of quaternary ammonium salt may control the microbial contam-ination and odor, reduce the incidence of eczema and other skin diseases.

Maternal Separation Induced Visceral Hypersensitivity from Childhood to Adulthood

BACKGROUND/AIMS: Early adverse life events (EALs) are relevant to irritable bowel syndrome in adulthood. Maternal separation (MS), as one of the EALs, has proved to induce visceral hypersensitivity in adult rats. However, the effect of MS on visceral hypersensitvity from the post-weaning period to adulthood remains unknown. METHODS: One hundred and ten neonatal Sprague-Dawley rats were randomly divided into 2 groups: rats in the MS group were exposed to 3 hours daily MS on postnatal day (PND) 2–14; the normal control (NC) group remained undisturbed. Visceral sensitivity was determined by measuring the visceromotor response to colorectal distention on PND21, 35, and 56. Anxiety-like behaviors were measured by the open field test. RESULTS: Compared with NC rats, MS rats showed significant visceral hypersensitivity from the post-weaning period to adult. The proportion of visceral hypersensitive rats decreased with age from 87.5% to 70.0% in the female MS group and from 90.0% to 66.7% in the male MS group. The relative VMR ratio of MS and NC on PND21 was higher than PND35 and PND56. MS rats showed decreased ability of movement and exploration to the novel environment in the post-weaning period, obesity in the prepubertal period, and more anxiety-like behaviors in adulthood. CONCLUSIONS: MS can significantly affect visceral sensitivity and behaviors of rats in different age stages, especially in the post-weaning period. Visceral hypersensitivity of MS rats is more pronounced in the post-weaning period and slightly restored in adults. Thus, visceral hypersensitivity in the post-weaning period might play a more meaningful pathophysiologic role in the formation of adult irritable bowel syndrome.

Analysis of clinical phenotypes and genetic variations in a Chinese family affected with craniofacial and skeletal deformities / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify pathogenic mutation in a pedigree affected with craniofacial and skeletal abnormalities featuring an autosomal dominant inheritance.</p><p><b>METHODS</b>Clinical data and peripheral venous blood samples of the pedigree were collected. A total of 326 exons of skeletal disease-related genes were screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected variants were analyzed by bioinformatic software.</p><p><b>RESULTS</b>A novel heterozygous mutation c.480C>A (p.160K>N) of HDAC4, the pathogenic gene for brachydactyly mental retardation syndrome, was found in the affected proband, his father and uncle. The proband and his father also carried a novel heterozygous c.880-882delAAG (p.294delK) mutation of TRPS1, the pathogenic gene for tricho-rhino-phalangeal syndrome. Bioinformatic analysis suggested that both mutations are pathogenic. In addition, three novel genetic variants, namely c.4817G>A (p.1606S>L) of MLL2, c.83A>G (p.28H>R) of TP63, and c.1712G>C (p.571T>S) of ERCC2, were also identified in this family.</p><p><b>CONCLUSION</b>The HDAC4 c.480C>A (p.160K>N) mutation probably underlies the disease in this pedigree, while the TRPS1 c.880-882delAAG (p.294delK) mutation may be related with certain features of the affected family members. Genetic analysis has facilitated the diagnosis of this complex disease.</p>

Microbial contamination of domestic washing machines / 中国感染控制杂志

Objective To investigate the status of microbial contamination in domestic washing machines,and pro-vide basis for strengthening hygiene and health management.Methods On-the-spot sampling,laboratory microbial detection,and questionnaire survey were performed to investigate and analyze the hygiene treatment and microbial contamination of domestic washing machines of Beijing residents.Results Source water of 115 washing machines were collected,no bacteria were detected.The total number of bacteria and fungi in washing water from 115 washing machines was 0-135 000 CFU/mL (13 206 CFU/mL on average)and 0-690 CFU/mL (229 CFU/mL on average) respectively.There was significant difference in bacterial colony forming unit in washing water from washing ma-chines of different length of service (P <0.05).15 specimens of washing water from 15 washing machines were per-formed bacteriological detection,17 kinds of bacteria were detected,most of which were opportunistic pathogenic bacteria.The major detected bacteria was Pseudomonas aeruginosa (66.67%),followed by Staphylococcus aureus (60.00%)and Escherichia coli (53.33%).Survey showed that 32.17% of residents reflected the washing ma-chines had peculiar smell and mildew spots,48.69% of users chose to open the covers for ventilation,38.26%adopted local wiping and cleaning of filter bags,only 10.43% chose to soak with disinfectant,while 24.35% didn’t know how to deal with.Conclusion Microbial contamination of domestic washing machines is serious,improper use and maintenance of washing machine is not conducive to health.

Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the parental origin of de novo SCN1A mutations in 22 patients with Dravet syndrome (DS).</p><p><b>METHODS</b>Clinical data and peripheral blood DNA of the patients and their parents were collected. SCN1A gene mutation was screened by polymerase chain reaction (PCR) and Sanger sequencing. For de novo mutations, allele-specific-PCR (AS-PCR) was used to determine their parental origins. Should the mutations be of paternal origin, semen specimen for their fathers was analyzed using PCR and Sanger sequencing for SCN1A gene mutations.</p><p><b>RESULTS</b>The parental origins of 22 de novo mutations were successfully determined by AS-PCR. Nineteen (86.4%) of the mutations had a paternal origin and 3 (13.6%) had a maternal origin. For those with a paternal origin, semen samples from 9 fathers were analyzed, but no mutation was found.</p><p><b>CONCLUSION</b>The majority of de novo SCN1A mutations were of paternal origin. The same mutation was not found in semen samples from the fathers, for which deep sequencing may be necessary.</p>

Charecteristics of the activity in brain resting regions of patients with asymptomatic reflux esophagitis / 中华消化杂志

Objective To observe characteristics of the activity in resting brain of asymptomatic reflux esophagitis (RE) patients,and explore the role of default network in the pathogenesis of asymptomatic RE.Methods Functional magnetic resonance imaging (fMRI) was performed to scan the brains of 15 asymptomatic RE patients,15 symptomatic RE patients and 15 healthy volunteers under no-mission-stimulation state.With fractional amplitude of low frequency fluctuation (fALFF),characteristics of the strengthened and weakened regions of asymptomatic RE patients,symptomatic RE patients and healthy individuals were compared and analyzed.SPM 5 was applied for data preprocessing.Single-sample t test was performed to observe the noticeable active regions of each group under resting state,and then double-sample t test was used to compare the characteristics of active regions of the entire brain between asymptomatic RE patients and symptomatic RE patients or healthy individuals.Results Under resting state,the active brain regions of asymptomatic RE patients,symptomatic RE patients and healthy individuals were similar.The activity of only small part of brain regions in visceral sensory processing relevant networks changed.There was no significant difference in the active regions of default network under resting state between asymptomatic RE patients and healthy individuals.Compared with symptomatic RE patients,fALEF decreased at right central sulcus cover,right superior temporal gyrus,right insula,right transverse temporal gyrus,right postcentral gyrus,superior temporal gyrus and temporal pole (X=50,Y=-6,Z=12,t=2.7874,P＜0.01).Conclusion The difference in characteristics of activity in default network under resting state may play an important role in the pathogenesis of asymptomatic RE.

The short term therapeutic effects of radioactive 125I seeds implantation for treatment of non-small-cell lung cancer / 中华内科杂志

Objective To explore influential factors of local therapeutic effect in CT guided brachytherapy of 125I seeds for non-small-cell lung carcinoma (NSCLC).Methods Totally 141 primary NSCLC patients diagnosed by bronchoscope or puncture biopsy were treated with CT guided 125I seeds implantation treatment from 2003 January to 2005 January.Among them,26 patients were treated with seeds implantation only and remaining 115 combined with chemical therapy.Preplans were performed by using treatment planning system before the implantation.We took the implantation with the prescription dose of 80-110 Gy,1 seed per 1 cm3,under the guide of computed tomography.Six months after implantation treatment,CT graphs were taken to evaluate the therapeutic effect.Results All the patients were survival until 6 months after implantation,and 37 were complete remission,93 were partial remissions.The effective rate was 92.2％.Among all the observed factors,pathologic type (F =5.162,P =0.023),dose of cover 100％ tumor(D100) (F =100.713,P =0.000) and treatment methods (F =16.205,P =0.000) were the independent influent factors (P ＜ 0.05).Among these,D100 was the most important factor (P =0.000).Single factor analysis indicated that pathologic type (x2 =7.313,P =0.007),D100 (x2 =71.6,P =0.000)and treatment methods (x2 =20.5,P =0.000) were significant influent factors.Of all 141 cases,24 had complications during or after implantation treatment,while no severe complications were reported.There was no significant correlation between complication and local therapeutic effect (P ＞ 0.05).Conclusion CT guided implantation of 125I seeds for lung cancer has good clinical effects and few complications.D100 is the most important factor to influence the local therapeutic effect.Implantation treatment combined with chemotherapy is an ideal measure for NSCLC treatment.

Clinical-electroencephalogram characteristics and its evolutionary process of Dravet syndrome / 中华神经科杂志

Objective To analyze the clinical and electroencephalogram (EEG) characteristics as well as its evolutionary process of Dravet syndrome (DS) in order to improve early diagnosis and appropriate treatment.Methods Fifty patients with DS were studied including onset age, trigger factors, seizure types on different age stages and relationship with EEG characteristics and its evolution process.Results The average age of seizure onset was ( 5.5 ± 1.9 ) months.The fever sensitivity continuously existed in the entire course of disease.In the early stage, generalized tonic-clonic seizures (GTCS) and focal or unilateral seizures were main types.Multi seizure types included myoclonic seizures (MS) and atypical absence occurred later.The onset ages of MS were average (M50) of 16 months.MS never occurred in 26% of the patients.During the first year of life, EEGs were normal in 76% of these patients.The epileptiform discharges only recorded in about 50% of the patients in spite of multi seizure types had presented.After three years ago, both EEG background abnormalities and discharges occurred in more 90% of the all patients.Photosensitivity response with MS occurred in the 28% of 18 patients.Conclusions The clinical and EEG are not parallel progressively process in early stage of DS.The children often express more severe clinical seizures than EEG abnormalities until 2 years of age.Various abnormal EEG manifestation obviously display gradually after 3 years age.Precise recognizing with the clinical and EEG characteristics of DS will help get correct early diagnosis and screen the candidate cases to test SCN1A gene.

Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutations of the sodium channel alpha 1 subunit gene SCN1A in severe myoclonic epilepsy of infancy (SMEI) patients and analyze its inheritance.</p><p><b>METHODS</b>Twenty-three patients consistent with the diagnosis of SMEI were selected for SCN1A mutation analysis. Genomic DNA was extracted from peripheral blood lymphocytes of these patients and their parents. All the twenty-six exons of the SCN1A gene were amplified by PCR and sequenced.</p><p><b>RESULTS</b>In the 23 SMEI patients, 17 mutations were identified in 17 unrelated SMEI patients. The SCN1A mutation rate was 73.9% (17/23). The mutations included 8 missense mutations (F90S, I91T, A239T, W952G, T1210K, V1335M, V1390M and G1433E), 3 nonsense mutations (R612X, W768X and W1408X), 3 deletion mutations (A395fsX400, L556fsX557 and V1778fsX1800), 1 insertion mutation (Y1241fsX1270), 1 splice-site mutation (IVS10+3 A to G) and 1 synonymous mutation (K1492K), of which 47.1% (8/17) were truncation mutations. Thirteen mutations (F90S, I91T, T1210K, V1335M, G1433E, R612X, W768X, A395fsX400, L556fsX557, V1778fsX1800, Y1241fsX1270, IVS10+3A to G and K1492K) have not been reported previously. Except for F90S, L556fsX557 and V1778fsX1800, the other 14 mutations were de novo.</p><p><b>CONCLUSION</b>SCN1A is a major pathogenic gene for SMEI. About a half of the SCN1A mutations in SMEI cause truncation. There were no hotspots of SCN1A mutations in SMEI patients, and most mutations were de novo.</p>

Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.</p><p><b>RESULTS</b>There were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).</p><p><b>CONCLUSION</b>This GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.</p>