OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic cause for a patient with intellectual disability, short stature and multiple congenital anomalies, and to correlate the result with the clinical phenotype. METHODS: Routine karyotyping analysis was carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism (SNP) microarray was used to detect microdeletions or microduplications in the patient. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of aberrant chromosomes. RESULTS: The karyotype of the patient was 46,XY,der(18), while both of his parents had a normal karyotype. SNP array identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) in the patient. Above finding was confirmed by dual-color FISH with one color for 18p and another for 18q. The patient presented with some common features of 18p deletion and 18q duplication including intellectual disability and growth retardation, in addition with some features of 18p deletion including pectus excavatum, short stature and growth hormone (GH) deficiency. The patient showed progressive improvement of stature with GH therapy. Comparison of patients with previously reported dup(18q)+del(18p) recombinations suggested that, even for patients with similar breakpoints, their phenotypes have ranged from normal to severe and there were no consistent findings. CONCLUSION As aberrations involving double chromosomal segments often result in phenotypic variability, it has been difficult to correlate the genotype of our patient with his phenotype.
Abnormalities, Multiple ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Monosomy ; Phenotype ; Trisomy

Objective: To analyze the influence of cognition on suicidal ideation in patients with major depressive disorder. Methods: A total of 108 inpatients with major depressive disorder from January 2017 to September 2018 in Beijing Huilongguan Hospital were enrolled.They were divided into suicidal ideation group (n=42) and non-suicidal ideation group (n=66) by the self-rating idea of suicide scale (SIOSS). Cognition was assessed by Repeatable Battery for the Assessment of Neuropsychological Status(RBANS). The general situation was assessed by self-made general situation questionnaire.The related factors were analyzed by Logistic regression. Results: (1) The rate of suicidal ideation was 44.4% in patients with major depressive disorder.(2) The total score of RBANS and five-factor scores of RBANS in suicidal ideation group were lower than those in non-suicidal ideation group(total RBANS score(63.0±7.9) vs (73.8±7.7); immediate memory: (62.7±8.8) vs (70.8±7.6); visual span: (67.2±10.0) vs (72.7±9.8); speech function: (83.3±13.8) vs (91.5±4.5); attention: (85.3±11.9) vs (99.9±8.5); delayed memory: (53.5±7.7) vs (62.3±9.7), F=6.335-46.660, P<0.05). (3)Logistic regression showed, years of education were risk factors for suicidal ideation(β=0.289, P=0.013, OR=1.335, 95%CI=1.063-1.676), RBANS attention factor(β=-0.161, P=0.000, OR=0.851, 95%CI=0.778-0.931)and RBANS delayed memory factor score(β=-0.151, P=0.006, OR=0.860, 95%CI=0.772-0.957)were protective factors for suicidal ideation. Conclusion Cognitive function has an impact on suicide ideation of depressive patients, mainly attention and delayed memory are protective factors for suicide ideation.

Objective To develop a promising type of radiation dosimeter based on doped hydroxyapatite,and to study the stability of dosimetric characteristics indepth.Methods The samples prepared by stereotyping techniques were stored under different temperatures,humidity and illumination conditions after 60Co γ-ray irradiation.Electron spin resonance (ESR) technique was used to quantitatively measure the radiation-induced free radical signal.Results The signal change was less than 3% when the dosimeter was preserved at 4℃ or room temperature within 3 months in the experiment.At 40℃,the signal changed by about 13%,but at room temperature with the humidity less than 36%,the signal changed less than 2%.The change rose to about 8% when humidity was 76%.However,no significant decay of signal strength occurred at relatively high temperatures and under high humidity conditions.When the samples were stored under average illumination of 1600 lux or in a light-resistant container,the signal changes were less than 3.8% or 3.4% respectively.Long-term stability inspection at room temperature suggested a signal change within 4.8%.Conclusion The dosimetric properties of the material don't change significantly below room temperature in a natural environment and exhibit good stability over long-term storage.The free radical signal is not influenced drastically by relatively strong light exposure.However,a high temperature or a highly humid environment may have some effect on the measurement process,which should be taken into consideration in further applications.

This study was aimed to use the method of modulation transfer function (MTF) to compare image quality among three different Olympus medical rigid cystoscopes in an in vitro model. During the experimental processes, we firstly used three different types of cystoscopes (i. e. OLYMPUS cystourethroscopy with FOV of 12 degrees, OLYMPUS Germany A22003A and OLYMPUS A2013A) to collect raster images at different brightness with industrial camera and computer from the resolution target which is with different spatial frequency, and then we processed the collected images using MALAB software with the optical transfer function MTF to obtain the values of MTF at different brightness and different spatial frequency. We then did data mathematical statistics and compared imaging quality. The statistical data showed that all three MTF values were smaller than 1. MTF values with the spatial frequency gradually increasing would decrease approaching 0 at the same brightness. When the brightness enhanced in the same process at the same spatial frequency, MTF values showed a slowly increasing trend. The three endoscopes' MTF values were completely different. In some cases the MTF values had a large difference, and the maximum difference could reach 0.7. Conclusion can be derived from analysis of experimental data that three Olympus medical rigid cystoscopes have completely different imaging quality abilities. The No. 3 endoscope OLYMPUS A2013A has low resolution but high contrast. The No. 1 endoscope OLYMPUS cystourethroscopy with FOV of 12 degrees, on the contrary, had high resolution and lower contrast. The No. 2 endoscope OLYMPUS Germany A22003A had high contrast and high resolution, and its image quality was the best.
Diagnostic Imaging ; instrumentation ; Endoscopes ; Endoscopy ; instrumentation ; Software

Objective To calculate the electric field intensity and transmembrane voltage of spherical cells and ellipsoi -dal red blood cells ( RBC) in an extremely low frequency electromagnetic field .Through this calculation , we can provide reference to the search for interaction targets and mechanics between the extremely low frequency electromagnetic field and organisms.Methods The Finite Element Method was used in the numerical computation for the spherical cell model and the ellipsoidal RBC model .Results The electric field intensity of the two types of cells on the cellular membrane was both significantly higher than the applied electric field strength , and the values of the induced field strength and transmembrane voltage varied with the direction of the electric field periodically .Conclusion The cell shape and direction of the applied electric field are not the main determinants of the cellular membrane electric field intensity and the transmembrane voltage compared with electromagnetic parameters .The distribution of the electric field intensity and transmembrane voltage are re-lated to the direction of the applied electric field.

Objective To evaluate the effieaey of test bolus technique with multi-slice spiral CT (MSCT) for determining the optimal scan delay time in CT Hepatic artery (HA)-portal vein (PV) angiography and multi-phase scanning.Methods MSCT liver angiography and multi-phase scanning were performed in 187 patients divided randomly into two groups.In group A (n =59),the scan delay time was set according to the subjective experiences of operators; in group B (n=128),the scan delay time was determined by test bolus technique.Abdominal aorta and superior mesenteric,vein were selected as target blood vessels,and 50 HU was set as enhancement threshold value.20 ml contrast agent was injected intravenously and time-density curve of target blood vessels were obtained,then HA-PV scanning delay time were calculated respectively.The quality of CTA images obtained by using these 2 methods were compared and statistically analysed using Chi-square criterion.Resuits For hepatic artery phase,the images of group A are:excellent in 34(58%),good in 17(29%),and poor in 8 (13%),while those of group B are excellent in 128( 100%),good in 0(0%),and poor in 0(0%).For portal vein phase,the images of group Aare:excellent in 23(39%),good in 27(46%),and poor in 9(15%),while those of group B are excellent in 96 (75%),good in 28 (22%),and poor in 4 (3%) respectively.There was statistically significant difference between the ratios of image quality in group A and group B (X2=14.97,9.18,P < 0.05).Conclusion Accurate scan delay time was best determined by using test bolus technique,which can improve the image quality of liver angingraphy and multi-phase scanning.

Objective To investigate the diagnosis and treatment of posterior fossa hemangioblastoma.Methods The data of 44 cases with posterior fossa hemangioblastoma verified by surgery and pathology were analyzed retrospectively.Results Preoperative definite diagnosis cases were 41.Total tumor removal was achieved in 37 cases. Four cases died of the operation.Conclusions Posterior fossa solid hemangioblastoma are still challenging neoplasmas.For this kind of tumor,biopsy and partial removal are forbidden,and this tumor is removed after devascularity of supply blood artery.CT and MRI are major preoperatively diagnosis method for posterior fossa hemangioblastoma. The application of special microsurgical technique can improve surgical efficacy.