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Objective:To analyze the clinical and molecular genetic characteristics of a Chinese family with congenital cataract-microcornea syndrome.Methods:The method of pedigree investigation was adopted.A Chinese Han family with congenital cataract-microcornea syndrome was recruited in Xiamen Eye Center of Xiamen University.All the family members received detailed ophthalmologic examination including the best corrected visual acuity, intraocular pressure measurement by handheld applanation tonometry, slit lamp biomicroscopy, color fundus photography, B-scan ultrasonography, corneal diameter, anterior segment optical coherence tomography, ultrasound biomicroscopy, corneal endoscopy, and corneal topography.Genomic DNA was extracted from peripheral venous blood from some patients and unaffected family members.Targeted high-throughput DNA sequencing was performed on the proband.The sequencing chip contained 188 known pathogenic genes related to lens abnormalities.Suspected pathogenic genes were verified by Sanger sequencing in phenotypically normal family members to identify the co-segregation and the disease-causing gene.Bioinformatics analysis was performed to analyze the pathogenicity of variants by REVEL.Conserved protein domains were analyzed by InterPro.Physicochemical property of the mutant protein was analyzed by ProtParam.The deleteriousness of the protein was predicted by PolyPhen-2.Homology of the variants in pathogenic gene was analyzed by NCBI website to compare the conservation among various species.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-LW-2009-003).Written informed consent was obtained from each subject prior to entering the study cohort.Results:There were 39 members of 4 generations in this family including 11 patients with an autosomal dominant inheritance pattern.Clinical features of the patients included congenital cataract and microcornea.No obvious abnormality was found in ophthalmic and general examination.A heterozygous mutation c. 61C>T in the CRYAA gene was found, resulting in the mutation of the amino acid from arginine to tryptophan (p.Arg21Trp) at position 21, consistent with co-segregation.The number of cationic cluster in the mutant protein decreased, and the hydrophilicity and stability were reduced.The variant was predicted to be deleterious and was highly conserved in multiple species. Conclusions:A novel heterozygous mutation c.61C>T p. Arg21Trp in CRYAA gene is considered as the causal gene of this family.It is the first time this variant has been reported in China.
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OBJECTIVE@#To explore the clinical and genetic characteristics of a child featuring developmental delay.@*METHODS@#The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.@*CONCLUSION@#A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
Subject(s)
Adult , Child , Female , Humans , Male , Abnormalities, Multiple/genetics , Cataract/genetics , Cornea/abnormalities , Hypogonadism/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Mutation , Optic Atrophy/genetics , Exome Sequencing , rab3 GTP-Binding Proteins/geneticsABSTRACT
Objective To explore the histological basis of diffusion tensor tractography (DTT)fiber tracer images of benign prostatic hyperplasia (BPH)and prostate cancer (PCa).Methods Sixty-eight patients with PCa and sixty patients with BPH confirmed by pathology were recruited for this study.Conventional MRI and DTI examinations were performed.The original DTI data were processed at the AW4.5 workstation.After pos-t processed,FA and ADC values were recorded,DTT was plotted.Fiber bundle travel was observed and scored by two senior radiologists.The BPH and PCa specimens were stained with Masson fibers,and the diameter and angle of the fiber bundles were recorded.Results The FA values of BPH and PCa were 0.22±0.05 and 0.47±0.01 ,respectively.ADC values of BPH and PCa were (1.31 ±0.27)×10－3 mm2/s and (0.6 1 ±0.09)× 10－3 mm2/s,respectively.The differences in ADC and FA values among BPH and PCa were statistically significant (P＜0.05).DTT showeded that the fibers of BPH were dense and long,while the fibers of PCa were messy and short.The diameter and angle of collagen fibers and smooth muscle fibers for BPH were both larger than those for PCa,but only the difference between the diameter of smooth muscle fibers was statistically significant (P＜0.05).Conclusion There are significant differences between BPH and PCa in DTT images,which is consistent with the characteristics of fiber structure.DTI fiber bundle can reflect the differences of fiber structure between BPH and PCa.
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Objective To explore the diagnostic value of ESWAN in uterine fibroids by analyzing the ESWAN signal of uterine fibroid. Methods Conventional MRI and ESWAN were carried out in thirty-seven patients with uterine fibroids.The differences of ESWAN indexes between uterine fibroids and myometrium were analyzed by paired t-test.The value of ESWAN on diagnosing uterine fibroids was analyzed by receiver operating characteristic curve(ROC curve).Results The magnitude value,phase value,R2* value and T2*value of uterine fibroids were 1 661.69 ± 45.24,(0.006 7 ± 0.007 7)Hz,(26.69 ± 1.04)Hz and(34.68 ± 1.73)ms,respectively.The magnitude value,phase value,R2* value and T2* value of myometrium were 1 790.95 ± 49.04,(0.013 1 ± 0.011 8)Hz,(22.35 ± 0.84)Hz and(42.53 ± 2.16)ms.The magnitude value,phase value and T2* value of uterine fibroids were lower than those of myometrium (P=0.008,P=0.659 and P=0.002).While the R2* value of of uterine fibroids was higher than that of myometrium(P=0.001). The area under curve(AUC)of magnitude value,phase value,R2* value and T2* value were 0.604,0.553,0.666 and 0.662.Conclusion ESWAN can show the differences between uterine fibroids and myometrium ，while the ability to independently diagnose uterine fibroids was modest.
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Objective To study the clinical value of DTI in the evaluation of high intensity focused ultra-sound (HIFU) for treating uterine fibroids by analyzing the characteristics of DTI before and after surgery. Methods DTI was performed before and after HIFU. The study included 25 patients with 30 uterine fibroids. All data were processed using GE AW4.5 Workstation. ADC,FA,VRA and T2-weighted trace of uterine fibroids before and after HIFU were recorded and analyzed. Results After HIFU,no enhancement was observed in uterine fibroids on DCE-MRI. The signal of uterine fibroids on FA,VRA map was lower after HIFU. No statistical differences were found between ADC and T2-weighted trace before and after the surgery(P>0.05). FA and VRA of uterine fibroids after HIFU were lower than those before the surgery(P<0.05). Conclusion FA and VRA can reflect micro differ-ence of uterine fibroids before and after HIFU ,which is useful for assessing the curative effect after HIFU.
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Objective To explore the value of enhanced T2 star weighted angiography(ESWAN)in the treatment of uterine fibroids with high intensity focus ultrasound(HIFU) by analyzing the changes of ESWAN. Methods Uterine fibroids were detected through pelvic conventional MRI and ESWAN 1 day before and after HIFU operation. Different indexes of ESWAN were measured ,and differences were compared with the paired t-test. Results The preoperative and postoperative values of magnitude were 1624.59 ± 53.07 and 1750.13 ± 39.81, phase values were 0.0012 ± 0.0081 Hz and 0.0025 ± 0.1063 Hz,R2*value were 27.69 ± 1.27 Hz and 24.19 ± 1.20 Hz,and T2*values were 34.66 ± 2.07 ms and 36.46 ± 2.14 ms. After HIFU operation,magnitude value,phase value and T2*value were higher(P=0.04,P=0.91 and P=0.45),and R2*value was lower(P=0.019). Conclusions ESWAN can provide more information about histopathologic changes of uterine fibroids after HIFU.
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Objective To trace human umbilical cord mesenchymal stem cells (MSCs)labelled by USPIO-PLL which were transplanted into mouse subcutaneous xenotransplanted lung cancer by using 3.0T MR,to investigate the relationship between MSCs and VEGF expression and tumor angiogenesis by using SABC immunohistochemical method and to comprehensively analyze the effect of MSCs transplantation on lung cancer.Methods Cultured MSCs and poly lysine (PLL)was as a transfection agent which was magnetically labeled by USPIO and implanted into mice with subcutaneous xenotransplanted lung cancer through the tail vein.MRI was performed at pre-transplantation, 1 d and 10 d after transplantation and the tissues were performed by immunohistochemistry respectively.Results (1)MSCs could reach the tumor area at the first day after the transplantation and be monitored by MRI.MSCs increased at the 10th day.MRI signal intensity was reducedand the difference was statistically significant (P <0.05).The inhibitory rate of the 1st day and 10th day was positive;(2)At the 10th day after the transplantation,the rate of the VEGF positive expression in MSCs group was 86.67％,the value of MVD was 44 .22 ± 12 .36 ,and the rate of the VEGF positive expression in NS group was 26 .67 ％ ,the value of MVD was 20 .29 ±8.47 (P <0.05).Conclusion Tracing stem cell transplantation in vivo can be proceeded effectively by using 3.0T MR.Stem cell has bidirectional effect on lung cancer which inhibites the tumor growth by directional chemotaxis and differentiation,and also enhances expression of VEGF and angiogenesis at a certain extent.
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Objective To trace human umbilical cord mesenchymal stem cells (MSCs)labelled by USPIO-PLL which were transplanted into mouse subcutaneous xenotransplanted lung cancer by using 3.0T MR,to investigate the relationship between MSCs and VEGF expression and tumor angiogenesis by using SABC immunohistochemical method and to comprehensively analyze the effect of MSCs transplantation on lung cancer.Methods Cultured MSCs and poly lysine (PLL)was as a transfection agent which was magnetically labeled by USPIO and implanted into mice with subcutaneous xenotransplanted lung cancer through the tail vein.MRI was performed at pre-transplantation, 1 d and 10 d after transplantation and the tissues were performed by immunohistochemistry respectively.Results (1)MSCs could reach the tumor area at the first day after the transplantation and be monitored by MRI.MSCs increased at the 10th day.MRI signal intensity was reducedand the difference was statistically significant (P <0.05).The inhibitory rate of the 1st day and 10th day was positive;(2)At the 10th day after the transplantation,the rate of the VEGF positive expression in MSCs group was 86.67％,the value of MVD was 44 .22 ± 12 .36 ,and the rate of the VEGF positive expression in NS group was 26 .67 ％ ,the value of MVD was 20 .29 ±8.47 (P <0.05).Conclusion Tracing stem cell transplantation in vivo can be proceeded effectively by using 3.0T MR.Stem cell has bidirectional effect on lung cancer which inhibites the tumor growth by directional chemotaxis and differentiation,and also enhances expression of VEGF and angiogenesis at a certain extent.
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Background Noncontact tonometer (NCT) is a common application in clinical ophthalmology,while its measured value is influenced by corneal parameter.In recent years,there existed some clinical trials discussing the agreement between NCT and gold standard Goldmann applanation tonometer (GAT),but there was still lack of evidence.Objective This study was to evaluate the agreement between NCT and GAT by applying evidence based medicine (EBM) method.Metbods A systematic literature retrieval was conducted from the MEDLINE,EMbase,CBM disc and CNKI database with the limitation of publishing time until June 2016.The literatures were screened according to the inclusion and exclusion criteria.The sample size,average age,sample characteristics and follow-up time were extracted.The value of intraocular pressure measured by NCT and GAT were analyzed.The overall effect size was analyzed using Review Manager 5.3 (from The Cochrane Collaboration) as weighted mean difference (WMD).There existed heterology in this study.Radom effect mode was used to evaluate and compare the difference between NCT and GAT value.Results Twenty four articles were retrieved.Six comparison studies incorporated with 478 eyes were included for Meta analysis.After random effects model was performed for correction.Intraocular pressure measured by NCT was 0.02 mmHg larger than that by GAT (1 mmHg =0.133 kPa).There was no significant difference in the measurement value of IOP between the two instruments (WMD =0.02,95％ CI:-0.59 to 0.63,P =0.95).Funnel chart method showed that literature publication bias existed in this study.Conclusions Normal persons' IOP obtained from NCT and GAT showed a good reproducibility.More comparison studies are needed to support this result.
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Objective To evaluate the value of diffusion tensor imaging (DTI)in the assessment of uterine fibroids by analyzing uterine fibroids and normal myometrium.Methods Forty-four patients with uterine fibroids confirmed by surgery were included in this study.DTI was performed using double gradient GE HDxt 3.0T and HD Cardiac coil.All data were transferred to GE AW4.5 Workstation software for data processing.Apparent diffusion coefficient(ADC),fractional aniso(FA),volume ratio aniso(VRA)and T2-weighted trace of uterine fibroids and normal myometrium were recorded.Diffusion tensor tractography (DTT)of uterine fibroids and normal myometrium were reconstructed and observed.The ADC,FA,VRA and T2-weighted trace of different regions of interest (ROI)were compared between uterine fibroids and normal myometrium.Results The ADC,FA,VRA and T2-weighted trace of uterine fibroids and normal myometrium were (1.65±0.32)×10 -9 mm2/s and (1.21±0.97)×10 -9 mm2/s,0.20±0.08 and 0.28±0.08,0.05 ± 0.05 and 0.09±0.07,344.22±66.1 9 and 318.97±98.48,respectively.The ADC of normal myometrium was higher than that of uterine fibroids (P =0.009).The FA and VRA of normal myometrium were lower than those of uterine fibroids (P =0.000,P =0.005). There was no statistically significant difference of T2-weighted trace between uterine fibroids and normal myometrium (P =0.1 74). There were obvious differences between uterine fibroids and normal myometrium in direction,arrangement and number of fibers. Conclusion DTI can be used to evaluate the structure difference between uterine fibroids and normal myometrium,which has the potential to improve assessment value of MRI for uterine fibroids.
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Objective To investigates the feasibility of diffusion tensor imaging (DTI) and diffusion tensor tracking (DTT) for evaluation of the effect of childbearing history on female pelvic floor muscles. Methods Forty-six healthy females were divided into two groups: nulliparous and primiparous. MR conventional sequences and DTI were acquired. The optimized FA threshold value was obtained by regulating the FA to fiber tracking. The two groups were compared in terms of ADC, FA, VRA and T2-WT. Results (1)The DTT of FA 0.18 got the highest score in fiber tracking . ( 2 ) The ADC of nulliparous subjects and the subjects who had given birth were (1.24 ± 0.11) ×10-3 mm2/s, (1.33 ± 0.11) ×10-3 mm2/s (P = 0.017). There were no statistical differences in FA, VRA and T2-WT between the two groups (P > 0.05). Conclusions The optimized FA threshold of fiber tracking in pelvic floor muscles is 0.18. DTI and DTT may be used to evaluate the effect of childbearing history on female pelvic floor muscles.
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ObjectiveTo study the ability of response inhibition of depression.Methods30 depressed patients( depression group) and 30 healthy subjects (control group)were recruited in this study.The two groups were age,gender and education matched.All the subjects performed three visual Go/Nogo tasks using E-prime.The three Go/Nogo tasks were Happy Nogo Task(HNT),Normal Task (NT)and Sad Nogo Task (SNT).The two groups were instructed to press a button as quickly and correctly as possible when the Go trials were presented,but not to response when the Nogo trials were presented.In each task,the differences of accuracy (ACC) and response Time (RT) between the two groups were compared.Results ( 1 ) In HNT,during Go trials,ACC of depression group ( 0.85 ± 0.12 ) was higher than that of control group (0.75 ± 0.15 ) (P ＜ 0.05 ) ; during Nogo trials,ACC of depression group ( 0.91 ± 0.63 ) was lower than that of control group ( 0.95 ± 0.05 ) (P ＜ 0.05 ).(2) In NT,During Nogo trials,ACC of depression group(0.95 ± 0.04) was higher than that of control group (0.97 ± 0.03 ) (P ＜0.05 ).(3) There were no significant differences in RT between the two groups in any trails (P ＞ 0.05 ).ConclusionCompared with control group,depressed patients have a much higher recognize incline to the stimulus of sad emotion and a lower ability to complete normal response inhibition task.This is a new way to explain the depression pathogenesis mechanisms.
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Objective To discuss the acute toxicity of abamectin to several aquatic animals,it can provide reference for formulating safety concentration value of abamectin on fresh-water aquatic animals. Methods The method of changing solution was used for Cladocera crustacea with 48 h,and Allogynogenetic crucian carp fingerling (fry),Gambusia affinis,Hypophthal michthys molitrix fry,Macrobrachium nipponense,Eriocheir sinensis,Cipangopaludina chincasis with 96 h in this experiment. For the experimental animals,every kind of animal was randomly divided into 11 groups(495 animals in each),including nine treatment groups,one control group and one ethanol (hydrotropy agent) group (15 animals in each). The clinic symptoms were observed and mortalities were recorded;median-lethal concentration with 24,48,72,96 h and safety concentration were calculated. Results During the experiment,the mortalities of all animals increased with increase of time and concentration of abamectin. As for Cladocera crustacea,48 h LC50 and safety concentration were 0.000 37 and 0.000 037 mg/L,for Allogynogenetic crucian carp fry, Allogynogenetic crucian carp fingerling,Gambusia affinis,Hypophthal michthys molitrix fry,Macrobrachium nipponense, Eriocheir sinensis,Cipangopaludina chincasis,the values of 96 h LC50 were 0.018,0.06,0.08,0.02,0.52,0.25,0.57 mg/L and safety concentrations were 0.001 8,0.006,0.008,0.002,0.052,0.025,0.057 mg/L,respectively. The results showed that the toxicity of abamectin to seven fresh-water aquatic animals ranked as Cladocera crustacea,Allogynogenetic crucian carp fry,Hypophthal michthys molitrix fry,Allogynogenetic crucian carp fingerling,Gambusia affinis,Eriocheir sinensis,Macrobrachium nipponense, Cipangopaludina chincasis. Conclusion Abamectin has higher toxicity to fresh-water aquatic animals.