Objective To assess the clinical value of HRCT in diagnosis of cholesteatomatous tympanitis.Methods HRCT findings of 26 patients with cholesteatomatous tympanitis proved by surgery and pathology were analyzed.Results HRCT findings of cholesteatomatous tympanitis included:soft tissue mass in the superior tympanium,tympanal sinus and mastoid(100%,26/26),destruction of the bone includeing ossicles chain (92%,24/26),secutum(46%,12/26),facial nerve canal (54%,14/26);enlargement of the tympaniosinus with sclerosing borders;intracranial complications including temple abscess(1 case),meningitis(1 case).Conclusion HRCT is of great value in diagnosis of cholesteatomatous tympanitis.

Objective To investigate the effect of preoperative chlorhexidine bath for reducing the incidence of sur-gical site infection(SSI)in patients undergoing spinal surgery.Methods All patients who undergoing spinal surgery (with no implants)in the department of neurosurgery of a hospital between January 2013 and December 2014 were monitored,the selected patients were divided into control group (January-December of 2013,no intervention meas-ures were taken)and trial group(January-December of 2014,1 .8%-2.2% chlorhexidine bath for two nights before operation),incidence of SSI between two groups of patients before and after intervention was compared,interven-tions effect was evaluated.Results A total of 1 043 patients undergoing spinal surgery were enrolled,41 (3.93%) had SSI,incidence of SSI rates in control group and trial group were 6.47% and 2.34% respectively,the difference was statistically significant (P=0.001).According to the incidence of SSI in control group,actual infected patients in trial group were 27 less than the anticipated patients with infection.The average hospitalization expense in SSI group and non-SSI group were ￥33 641 .00 and ￥23 072.50 respectively,each patient could save ￥10 568.50 on average.Therefore,through the intervention measures,￥285 349.50 of hospitalization expense could be saved. Except ￥2 100 of trial material cost and ￥12 820 of manual labour cost,￥270 429.50 of social cost was ultimately saved.The mean length of hospital stay in control group and trial group were 10 (8-12)days and 9 (8-12)days respectively,rank test showed that the difference was not statistically significant (Z = - 0.68,P = 0.50 ). Conclusion Chlorhexidine bath intervention can not only reduce SSI rate,but also save the expense of hospitaliza-tion,whether it can shorten the length of hospital stay needs to be further studied.

Secondary trigeminal neuralgia after brainstem infarction is rare and rarely reported.A patient with secondary trigeminal neuralgia after brainstem infarction was admitted to the Department of Neurosurgery,Xiangya Hospital,Central South University.The patient was a 44 years old male who underwent motor cortex stimulation treatment after admission.The effect was satisfactory in the first week after surgery,but the effect was not satisfactory after one week.This disease is relatively rare and the choice of clinical treatment still requires long-term observation.

OBJECTIVETo compare the outcome of non-operative treatment with the outcome of surgical intraventricular drainage for patients with posttraumatic hydrocephalus including complications, mortality and favorable outcome.

METHODSThirty-nine patients were assigned to a nonoperative treatment group and 38 patents to a surgical intraventricular drainage group. Each patient's outcome was evaluated 3 years after treatment by using Glasgow Outcome Scale.

RESULTSIn the nonoperative treatment group the rate of favor able outcome (good recovery or mild disability) was 89.74% (35 of 39 patients) and the mortality was 2.56% (1 of 39 patients). In the surgical intraventricular drainage group the rate of favorable outcome was 71.05% (27 of 38 patients) and the mortality was 13.16% (5 of 38 patients; P<0.05). Mortality was not significantly different between the two groups.

CONCLUSIONSNonoperative treatment may be better than surgical intraventricular drainage for patients with posttraumatic hydrocephalus.

Adult ; Brain Injuries ; complications ; Chi-Square Distribution ; Female ; Humans ; Hydrocephalus ; etiology ; mortality ; therapy ; Male ; Treatment Outcome

Objective To investigate the genetic basis of patients with intellectual disability,and to assess the application of single nucleotide polymorphisms (SNP)-array in the molecular diagnosis of intellectual disability.Methods Sixty-four patients with intellectual disability who were identified in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2013 to June of 2015 were enrolled.Genomic DNA was extracted from peripheral blood and was analyzed with Illumina Humancyto SNP-12 300K gene array chip.All identified copy number variants (CNVs) were analyzed with references from databases such as ClinVar,DECIPHER,OMIM and DGV(Database of Genomic Variants),as well as comprehensive literature review from PubMed database to determine the pathogenicity of CNVs.Results Sixteen cases of the above 64 patients were found to have CNVs with genomic alterations,including 6 cases microdeletions/microduplications associated with known syndromes,3 cases microdeletions and microduplications with clear clinical relevance (non-syndrome),1 case numerical chromosome aberration,1 case unbalanced translocation and 5 cases CNVs of unknown clinical significance.The detection rate was 25% (16/64 cases).Among these 16 abnormalities,6 cases of them could not be detected by using karyotyping analysis because their sizes were less than 5 Mb,and the smallest detected missing fragment was 0.53 Mb.Conclusion SNP-array gene chip technique with the advantages of higher efficiency,high-resolution and good accuracy,which can be applied to the genetic diagnosis of intellectual disability.

OBJECTIVE: To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies. METHODS: Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis. RESULTS: Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes. CONCLUSION Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.
Cesarean Section ; Chromosome Aberrations ; DNA Copy Number Variations ; Female ; Fetus ; Genetic Testing ; Humans ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

Purpose To explore the diagnostic efficiency of ultrasound(US)combined with contrast-enhanced ultrasound(CEUS)in breast lesions and to analyze the related factors affecting the diagnostic accuracy.Materials and Methods From January 2022 to February 2023,the clinical data and ultrasound images of 784 patients who underwent breast US and CEUS examination with definite pathological results were retrospectively collected in the First Medical Center of the PLA General Hospital.The diagnostic efficacy of US combined with CEUS in benign and malignant breast lesions was analyzed,respectively.The independent risk factors for diagnostic errors were analyzed via Logistic regression.Results The sensitivity,specificity and accuracy of US combined with CEUS in the diagnosis of benign and malignant breast lesions were 89.2%,84.4%and 88.7%,respectively.The area under the receiver operating characteristic curve was 0.932.The results of multivariate Logistic regression analysis showed that the diagnosis error rate increased when the lesions were non-mass type(odds ratio,OR=1.927,P=0.047),complex cystic and solid(OR=3.729,P=0.000),and high-enhanced CEUS(OR=1.937,P=0.023),while the diagnosis error rate decreased when the lesions were large(OR=0.688,P=0.004)and with US-detect suspicious lymph node(OR=0.143,P=0.011).Conclusion When the breast lesions are non-mass type,complex cystic and solid lesions and hyper-enhancement,the diagnosis error rate of US combined with CEUS increased.It is necessary to further explore the enhancement patterns of different lesions.

OBJECTIVETo explore the value of single nucleotide polymorphism array (SNP-array) for the analysis of pediatric patients with growth retardation.

METHODSOne hundred eighty one children with growth retardation were enrolled. DNA was extracted from peripheral samples from the patients, and whole genome copy number variations (CNVs) were detected using Illumina Human Cyto SNP-12. All identified CNVs were further analyzed with reference to databases including ClinGen, ClinVar, DECIPHER, OMIM and DGV as well as comprehensive review of literature from PubMed to determine their pathogenicity.

RESULTSForty seven patients (26%) with abnormal CNVs were detected, which included 12 known microdeletions/microduplications syndrome (26%), 10 pathogenic non-syndromic CNVs (21%), 3 numerical chromosome aberrations (6%), 3 unbalanced translocations (6%), 4 pathogenic mosaicisms (9%) and 15 cases with unknown clinical significance (32%). After excluding obvious numerical and/or structural chromosomal abnormalities, this study has detected 15 pathogenic microdeletions/microduplications sized 5 Mb or less, which may be missed by routine chromosomal karyotyping. In addition, there were 3 cases with loss of heterozygoisty (LOH) containing known or predicted imprinting genes as well as 2 cases with suspected parental consanguinity.

CONCLUSIONSNP-array technology is a powerful tool for the genetic diagnosis of children with growth disorders with advantages of high resolution and improved accuracy.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; DNA Copy Number Variations ; Developmental Disabilities ; diagnosis ; genetics ; Female ; Humans ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide

Advanced glycation end-products (AGEs) are stable and toxic by-products of non-enzymatic metabolic reaction of proteins,lipids and nucleotides.The elevated serum AGEs level in pregnant women is strongly associated with hyperglycemia,oxidative stress and insulin resistance and may be one of the cause for the onset and development of the gestational diabetes mellitus(GDM).This review mainly focuses on the pathogenesis of AGEs and GDM.

OBJECTIVE：To establish the method for the content determination of inorganic elements in Cyperus rotundus ，and to compare the contents of 14 kinds of inorganic elements in C. rotundus from different producing areas ，and to provide theoretical basis for its quality control and high quality resources development . METHODS ：The samples were processed by microwave digestion，and ICP-MS method was used to determine the contents of Na ，Mg，K，Ca，Mn，Fe，Ni，Cu，Zn，As，Se，Sr，Cd and Pb. SPSS 23.0 software were used for principal component analysis （PCA）and cluster analysis. RESULTS ：The average contents of above 14 kinds of inorganic elements in C. rotundus from different producing areas were 168.62，753.71， 6 938.33，24.31，14.69，197.77，0.60，2.43，26.89，0.21，0.06，5.64，0.05，0.32 mg/kg，respectively. The results of PCA showed that the cumulative variance contribution rate of the first four principal components was 86.203％，which could reflect most of the information of the original data. C. rotundus from Shandong ，Jiangxi，Shanxi，Hubei and Yunnan ranked the top five places in terms of comprehensive score of inorganic element contents. The results of cluster analysis showed that the samples from 9 producing areas were clustered into 5 categories，showing the characteristics of clustering by producing area. From the perspective of inorganic elements ，the quality of C. rotundus from East China ，Central China ，North China and Southwest China was better than that from South China. CONCLUSIONS ：Essential trace elements like Na ，Mg，K，Ca，Mn，Fe，Cu，Zn，Sr are rich in C. rotundus，and there are small amounts of Ni ，As，Se，Cd，Pb elements in it. The contents difference of inorganic elements in C. rotundus from different origins may related to the geographical area it belongs to.