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1.
Chinese Journal of Experimental Ophthalmology ; (12): 554-560, 2023.
Article in Chinese | WPRIM | ID: wpr-990881

ABSTRACT

Objective:To evaluate the feasibility of measurement and characteristics of intraocular lens (IOL) tilt using the swept-source optical coherence tomography (SS-OCT) biometer (IOLMaster 700) and to explore its potentially relevant parameters.Methods:A cross-sectional study was conducted.Two hundred and forty-two eyes (119 right eyes, 123 left eyes) of 185 patients after phacoemulsification and IOL implantation were included in Beijing Tongren Hospital from July to September 2018.The IOL position, angle κ, angle α, corneal curvature, anterior chamber depth (ACD), pupil diameter (PD), and axial length (AL) were obtained by IOLMaster 700, and the IOL tilt direction and magnitude were calculated.The within-subject standard deviation and intraclass correlation coefficient were used to evaluate the repeatability of three IOL tilt measurements.Binocular symmetry of IOL tilt and the correlation between IOL tilt and different influencing factors were evaluated by Pearson linear correlation analysis or Spearman rank correlation analysis.Influencing factors for IOL tilt were assessed by multiple linear regression analysis.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Beijing Tongren Hospital, Capital Medical University (No.TRECKY2018-049). Patients were informed of the purpose and methods of this study and signed the written informed consent.Results:The repeatability of IOL tilt measurements was excellent with a within-subject standard deviation of 5.16° for IOL tilt direction and 0.13° for IOL tilt magnitude.IOL tilt was mirror symmetric in both eyes.The IOL tilt direction in right eyes ranged from -89.60° to 87.53° with a mean of (18.85±29.65)°, and the tilt magnitude ranged from 1.32° to 7.05° with a mean of (4.16±1.26)°.The IOL tilt direction in left eyes ranged from -84.30° to 89.44° with a mean of (21.17±32.38)°, and the tilt magnitude ranged from 0.58° to 7.40° with a mean of (3.80±1.31)°.There were moderate and weak positive correlations of IOL tilt direction and tilt magnitude between both eyes ( r=0.473, P<0.001; r=0.335, P=0.011). IOL tilt magnitude was weakly positively correlated with angle α and IOL diopter ( rs=0.272, P=0.003; r=0.285, P=0.002), and was weakly negatively correlated with ACD, PD and AL ( r=-0.303, P=0.001; r=-0.233, P=0.011; rs=-0.331, P<0.001). In backward stepwise regression analysis, the regression equation of IOL tilt magnitude, angle α, ACD, PD, AL and IOL diopter in multiple linear regression analysis was as follows: IOL tilt magnitude=10.503+ 1.456×angle α-0.532×ACD-0.196×AL ( R2=0.400; F=8.588, P<0.001). Conclusions:The SS-OCT biometer can be an effective method to assess IOL tilt.IOL tilt is mirror symmetric between the right eyes and left eyes.

2.
Shanghai Journal of Preventive Medicine ; (12): 619-625, 2023.
Article in Chinese | WPRIM | ID: wpr-988894

ABSTRACT

ObjectiveTo analyze the epidemic trends and current status in the prevalence of schistosomiasis in Jiangxi Province from 2002 to 2021, and to provide evidence for formulating and optimizing schistosomiasis control strategies in the province. MethodsEpidemiological data of schistosomiasis in Jiangxi Province from 2002 to 2021 were collected. The Joinpoint regression model was used to investigate the epidemic trends of schistosomiasis, and the annual average percent change (AAPC) was used to assess the changing trend of schistosomiasis infection in humans and bovines. SPSS 25.0 software was used to analyze the target achievement status, infection rate of schistosomiasis in humans and the areas with snails in 2021 to evaluate the differences among various districts and epidemic regions. ResultsBy 2021, 24 counties (61.50%) in the province had achieved the elimination goal, with hilly and marsh counties reaching 82.60% and 31.30%, respectively. The seropositive rate of schistosomiasis in human was 3.51% across the province. However, the seropositive rate in marshland areas (4.77%) was significantly higher than that in hilly areas (1.23 %) (χ2=3 827.51, P<0.001). The total area with snails in the province was 84 938.32 hm2, including 82 196.86 hm2 in marshland areas and 2 741.46 hm2 in hilly areas. From 2002 to 2021, the infection rate of schistosomiasis in the humans and bovines exhibited a declining trend, with AAPC values of -48.70 and -39.70, respectively. The decline rate in the hilly areas was higher than that in marshland areas. However, the area with snail showed an upward trend (AAPC=0.50), with a growth rate of 5.80% in hilly areas, which was greater than that in marshland areas (0.40%). ConclusionFrom 2002 to 2021, the infection rate of schistosomiasis in humans and bovines in Jiangxi Province continued to decline, while the areas with snails increased. The prevention focus should still be on the marshland endemic areas, and attention should also be given to the risk of schistosomiasis in hilly endemic areas. Therefore, it is necessary to continue implementing a comprehensive prevention and control strategy that emphasizes controlling the sources of infection and adopts tailored measures based on local conditions and precise policies.

3.
Chinese Journal of Ocular Fundus Diseases ; (6): 191-196, 2022.
Article in Chinese | WPRIM | ID: wpr-934293

ABSTRACT

Objective:To analyze the ultrasonographic features of adenoma of the nonpigmented ciliary epithelium (ANPCE).Methods:A retrospective series of case studies. From January 2014 to October 2021, 31 patients (31 eyes) with ANPCE (ANPCE group) were diagnosed in the eye center of Beijing Tongren Eye Center of Beijing Tongren Hospital, Capital Medical University, and 17 patients (17 eyes) with ciliary body melanoma (control group) diagnosed at the same time were selected as the control group. There was no significant difference in age ( t=-0.564) and sex composition ratio ( χ 2=0.182) between the two groups ( P=0.576, 0.670). All patients underwent ultrasound biomicroscopy to obtain the measurement parameters: tumor height, maximum basal diameter, maximum diameter, ratio of maximum diameter to basal diameter and ratio of maximum diameter to height; tumor location, shape, internal echogenicity intensity, echogenicity uniformity, degree of sound attenuation, invasion of iris, anterior displacement of the iris, lens subluxation were observed. The measurement parameters and observation indexes of the two groups were compared by independent sample t-test and χ 2 test. Receiver operating characteristic (ROC) curve was drawn, area under the ROC curve (AUC) was determined, and parameter indicators with differential diagnosis value were screened. Results:The maximum diameter, height, maximum basal diameter, ratio of the maximum diameter to the maximum basal diameter, and the ratio of the maximum diameter to the height of the tumors in the ANPCE group and the control group were 5.64±0.98 mm, 4.24±0.59 mm, 3.66±0.71 mm, 1.58±0.34, 1.34±0.19 and 7.82±2.03 mm, 4.47±2.44 mm, 7.02±1.96 mm, 1.13±0.16, 2.09±1.06. The maximum diameter, the maximum basal diameter, and the ratio of the maximum diameter to the height of the tumor in the ANPCE group were all smaller than those of the control group, and the ratio of the maximum diameter to the maximum basal diameter was greater than that of the control group, and the differences were statistically significant ( t=-4.159,-6.808, -2.924, 6.257; P<0.05). The tumors in the ANPCE group were mainly spherical (87.1%, 27/31), with no significant acoustic attenuation (77.4%, 24/31), less invading the root iris (77.4%, 24/31), and the tumors were mostly located in the ciliary body coronal (74.2%, 23/31); tumors in the control group were mainly hemispherical (47.1%, 8/17) or spherical (47.1%, 8/17), with significant sound attenuation (76.5%, 13/17), most of the tumors invaded the iris (70.6%, 12/17), and the tumors were mostly located from the pars plana to the coronal (76.5%, 13/17). There were statistically significant differences in the position, shape, sound attenuation degree, and whether it invaded the iris between the two groups of eyes ( χ 2=15.132, 19.767, 13.118, 10.581; P<0.05). The results of ROC curve analysis showed that the ratio of the largest diameter to the largest base diameter, the degree of sound attenuation and the AUC of whether the iris was violated were higher, which were 0.881, 0.769, and 0.740, respectively. Conclusions:Ultrasound biomicroscopy is helpful in the diagnosis and differential diagnosis of ANPCE and ciliary body melanoma. The ratio of maximum diameter to maximum basal diameter, the degree of sound attenuation and whether it invades the root iris are important parameters to distinguish the two tumors.

4.
Chinese Journal of Ultrasonography ; (12): 896-900, 2021.
Article in Chinese | WPRIM | ID: wpr-910137

ABSTRACT

Objective:To investigate the ultrasonic features, contrast-enhanced ultrasound findings and long-term follow-up results of melanocytoma of the optic disc(MCOD).Methods:The data of 35 patients (35 eyes, 35 lesions) diagnosed with MCOD in Beijing Tongren Ophthalmic Center, Beijing Tongren Hospital from September 2012 to October 2020 were retrospectively analyzed. The B-mode ultrasonography and color Doppler flow imaging (CDFI) were performed on them. The size, morphology, internal echo and secondary changes of the lesions were analyzed. Contrast-enhanced ultrasound was performed on 13 patients. At the same time, 9 patients were followed up for long-term observation.Results:Six lesions (17.1%) showed hemispherical high echo, and 29 lesions (82.9%) showed limited uplift high echo. The largest base diameter of the lesions was (4.0±0.8)mm, average height was(1.9±0.4)mm. Internal echo characteristics: 8 lesions (22.9%) showed uniform echo and 27 lesions (77.1%) showed uneven echo.Lesion boundary: 35 lesions (100%) showed clear lesion boundary. Fifheen lesions (42.9%) showed secondary vitreous opacity. CDFI: blood flow signals could be detected inside the lesions in 19 lesions(54.3%), and not in 16 lesions(45.7%). Contrast-enhanced ultrasound showed 11 of the 13 lesions (84.6%) were completely filled with contrast agent.Conclusions:MCOD has certain ultrasonographic characteristics, which can provide a reliable basis for clinical diagnosis and differential diagnosis. There is no significant change in tumor size after long-term follow-up.

5.
Chinese Journal of Ultrasonography ; (12): 563-568, 2021.
Article in Chinese | WPRIM | ID: wpr-910092

ABSTRACT

Objective:To analyze the perfusion characteristics of choroidal metastasis using contrast-enhanced ultrasound, and compare with choroidal hemangioma.Methods:This was a retrospective study.From January 2016 to February 2018 in Beijing Tongren Hospital, a total of 21 eyes from 21 patients who were clinically diagnosed as choroidal metastasis were included as the choroidal metastasis group and 46 eyes from 46 patients who were diagnosed as choroidal hemangioma during the same period were included as the choroidal hemangioma group. All patients underwent contrast-enhanced ultrasound examination, and Sonoliver was used to obtain the data on quantitative parameters of the tumor and the adjacent normal orbital tissues, including maximum of intensity (IMAX), rise time (RT), time to peak (TTP), and mean transit time (mTT). The quantitative parameters between choroidal metastasis and normal orbital tissues were compared. And the quantitative parameters between choroidal metastasis and choroidal hemangioma were compared. The receiver operating characteristic (ROC) curve analysis was performed to evaluate the diagnostic performance.Results:The IMAX of choroidal metastasis was significantly higher than that of normal orbital tissues, while RT, TTP and mTT were significantly shorter than these of normal orbital tissues (all P<0.01). The IMAX of choroidal metastasis was lower than that of choroidal hemangioma, and RT, TTP and mTT were shorter than choroidal hemangioma (all P<0.01). The ROC curve analysis showed that area under curves of the IMAX, RT, TTP and mTT were 0.775 (95% CI=0.666-0.884), 0.970 (95% CI=0.896-0.996), 0.729 (95% CI=0.607-0.831) and 0.992 (95% CI=0.931-1.000) respectively. The sensitivities were 71.7%, 95.7%, 76.1% and 95.7%, and the specificities were 85.7%, 90.5%, 66.7% and 95.2%, respectively. Conclusions:Contrast-enhanced ultrasound can reflect the differences in perfusion characteristics between choroidal metastasis and choroidal hemangioma. RT and mTT are useful parameters in differential diagnosis between the two types of tumors.

6.
Chinese Journal of Ultrasonography ; (12): 161-166, 2021.
Article in Chinese | WPRIM | ID: wpr-884305

ABSTRACT

Objective:To discuss the characteristics of ultrasound diagnosis of optic disc capillary hemangioma.Methods:The study analyzed retrospectively 7 cases of optic disc capillary hemangioma diagnosed in the Beijing Tongren Hospital from 2015 to 2018. The size, morphology, internal echo, and secondary changes of the lesion were analyzed during ultrasound examination.Color Doppler flow imaging was used to check the blood flow in the lesion.Results:Pre-optic disc occupying lesions could be detected in the ultrasound images of the 7 cases. Lesion size: average base diameters (5.39±1.90)mm×(4.79±1.28)mm, average height (3.61±1.37)mm. Lesion morphology: 5 cases were round, and 2 cases were irregular. Echo within the lesion: 3 cases had medium echo inside the lesion, and 4 cases had high echo inside the lesion. Internal echo characteristics: 5 cases had uniform echo, and 2 cases had uneven echo. Secondary changes: 6 cases had secondary retinal detachment and vitreous opacity, and 1 cases was accompanied by retinal hemangioma in other parts. In all cases, blood flow signals could be detected inside the space-occupying lesions, which were in the form of branches, stripes or spots, and the blood flow spectrum showed a parallel spectrum of arteries and veins.Conclusions:Ultrasound examination of optic disc capillary hemangioma has certain characteristics, which can provide a valuable follow-up basis for clinical diagnosis.

7.
Chinese Journal of Experimental Ophthalmology ; (12): 962-966, 2020.
Article in Chinese | WPRIM | ID: wpr-865383

ABSTRACT

Objective:To compare the agreement of biometric parameters measured by a new swept-source optical coherence tomography IOLMaster 700 and a new Scheimpflug imaging combined with partial coherence interferometry biometer Pentacam AXL in cataractous eyes.Methods:A cross-sectional study was performed.A total of 146 eyes from 76 cataract patients were enrolled in Beijing Tongren Eye Center from 2 to 11 in January 2018, including 69 eyes in 36 males and 77 eyes in 40 females, the age ranged from 35 to 88 years, the mean age was (64.52±11.36) years.Axial length (AL), mean keratometry (Km), anterior chamber depth (ACD), central corneal thickness (CCT) and white-to-white (WTW) were measured with IOLMaster 700 and Pentacam AXL, respectively.The differences and correlations of the biometry parameters between the two devices were assessed.Bland-Altman method was used to evaluate the agreement of these parameters between the two devices and the 95% limits of agreement was calculated.This study adhered to the tenets of the Declaration of Helsinki and was approved by an Ethics Committee of Beijing Tongren Hospital (TRECKY2018-049).Results:The mean values of the AL measured by IOLMaster 700 and Pentacam AXL were (24.03±1.72)mm and (23.98±1.73)mm, Km were (44.04±1.71)D and (43.88±1.72)D, ACD were (3.24±0.47)mm and (3.28±0.47)mm, WTW were (11.82±0.51)mm and (11.49±0.49)mm, respectively.Compared with the values in Pentacam AXL, the AL, Km and WTW were larger while ACD was smaller in IOLMaster 700 with significant differences ( t=18.06, 8.94, 23.83, -15.36, all at P<0.01). The mean CCT values from the IOLMaster 700 and Pentacam AXL were (534.18±30.12)μm and (533.42±28.71)μm, respectively, with no significant difference ( t=1.04, P=0.30). The AL, Km, ACD, CCT and WTW from IOLMaster 700 were highly correlated with those from Pentacam AXL ( r=0.999, 0.992, 0.998, 0.956, 0.942; all at P<0.01). The Bland Altman analysis showed that the 95% limits of agreement of AL, Km, ACD, CCT and WTW were-0.02-0.11 mm, -0.27-0.59 D, -0.10-0.02 mm, -16.5-18.1 μm and 0.00-0.67 mm. Conclusions:IOLMaster 700 and Pentacam AXL have good agreements and narrow 95% limits of agreement in the measurements of AL, ACD, CCT, which can be clinically interchangeable.The 95% limits of agreement of WTW and Km are out of the clinically acceptable range, so the WTW and Km measured by the two devices are not interchangeable.

8.
Chinese Journal of Ocular Fundus Diseases ; (6): 33-37, 2020.
Article in Chinese | WPRIM | ID: wpr-871699

ABSTRACT

Objective To observe the application value with color Doppler flow imaging (CDFI) in the detection ofmacular diseases in senile cataract.Methods A cross-sectional descriptive study.From December 1 to December 30,2017,720 senile cataract patients (1380 eyes) diagnosed in Beijing Tongren Eye Center were included in this study.There were 330 males (629 eyes) and 390 females (751 eyes),with the mean age of 70.35 ± 19.05 years.There were 716 right eyes and 664 left eyes,with the visual acuity 0.05-0.8.The fundus of all the patients can be observed.All patients were examined by OCT using Cirrus HD-Model 5000 produced by German Carl Zeiss company and CDFI using MyLab90 color Doppler ultrasound system produced by ESAOTE S.P.A.Comparing the detection rate of macular lesions between the two methods by using X2 test.Using statistical methods to evaluate diagnostic tests,a crosstabulation was made to compare the consistency of frequency-domain OCT and CDFI in the diagnosis of macular lesions.Logistic regression analysis of correlation between detection of CDFI macular lesions and central foveal thickness (CFT),average thickness (AT),with or without macular anterior membrane,retinal folds,retinal cystoid edema,hard exudation,macular hole or lamellar macular hole,superficial detachment of neuroepithelium,detachment of pigment epithelium,vitreous macular traction.Results Two hundreds and thirty-nine eyes (17.3%) showed macular disease by OCT,and 161 eyes (11.7%) showed the abnormal echo in the macular region by CDFI.The detection rate of the macular disease between two methods were statistically significant (χ2=851.661,P< 0.001),however,the consistency was well (r=0.766,P=0.000).Logistic analysis showed that the detection rate of macular lesions was related to retinal folds,cysts in retina and CFT (r=1.396,1.041,0.12;P<0.01).Conclusion CDFI can effectively detect macular lesions that affect the visual prognosis of senile cataract patients.

9.
Journal of Central South University(Medical Sciences) ; (12): 1476-1482, 2020.
Article in English | WPRIM | ID: wpr-880610

ABSTRACT

The traditional classification, diagnosis, and treatment of intracranial aneurysms are based on the characteristics of their vascular lumen. However, in the past few years, some advances in MRI technology with high-resolution imaging can assess the pathology of intracranial vascular walls. Compared with traditional methods of computed tomography angiography, magnetic resonance angiograhpy, and digital subtraction angiography, high resolution magnetic resonance imaging technology can help us to newly understand the disease by directly evaluating the characteristics of vascular wall, such as aneurysm wall thickness, inflammation, enhancement, permeability and hemodynamics. At present, high-resolution magnetic resonance imaging is increasingly used in clinic to assess the rupture risk of intracranial aneurysms, which is of great significance for guiding the diagnosis and treatment of intracranial aneurysms.


Subject(s)
Humans , Aneurysm, Ruptured/diagnostic imaging , Cerebral Angiography , Intracranial Aneurysm/diagnostic imaging , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Risk Assessment , Technology
10.
Chinese Journal of Medical Genetics ; (6): 922-925, 2019.
Article in Chinese | WPRIM | ID: wpr-797496

ABSTRACT

Objective@#To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson’s syndrome.@*Methods@#A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed.@*Results@#The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson’s syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c. 1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes.@*Conclusion@#The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson’s syndrome may be a rare clinical phenotype of CADASIL.

11.
Chinese Journal of Ultrasonography ; (12): 251-255, 2019.
Article in Chinese | WPRIM | ID: wpr-745167

ABSTRACT

Objective To describe the ultrasonographic features of intraocular lymphoma . Methods It was a retrospective analysis of 19 patients ( 26 eyes ) with intraocular lymphoma at the department of ophthalmology ,Beijing Tongren Hospital from January 2015 to December 2017 . T he diagnosis was established by tissue biopsy in 4 patients with diagnostic vitrectomy and 8 with enucleation ,and other 7 cases were clinically diagnosed followed by pathological examination of central nervous system lymphoma . T he ultrasonographic features of all patients were analyzed . Results Of the 19 patients ( 26 eyes ) with intraocular lymphoma ,12 cases ( 19 eyes) of vitreoretinal lymphoma accounted for 63 .2% ,of which 7 cases were bilateral eyes ,and 7 cases ( 7 eyes ) of uveal lymphoma accounted for 36 .8% ,all of w hich were monocular . Ultrasonography of vitreoretinal lymphoma included vitreous opacity , posterior vitreous detachment ,partial retinal detachment ,irregular hypoechoic lesions under the retina ,and CDFI detected blood flow signals in the lesion . T here were two different types of ultrasound findings in uveal lymphoma . Five cases ( 5 eyes ) showed diffuse thickening of the uveal membrane with low echo , and irregular hypoechoic mass around the optic nerve and the ball wall ,in w hich CDFI detected abundant blood flow signals . Ultrasound biological microscope examination showed that the iris‐ciliary body thickened and the internal echo decreased . T his ultrasound finding accounted for 71 .4% of uveal lymphoma . T wo cases ( 2 eyes) showed a solitary ciliary‐choroid choroidal hypoechoic mass ,combined with retinal detachment and blood flow signals with CDFI ,accounting for 28 .6% of uveal lymphoma . Conclusions T he ultrasonography of intraocular lymphoma is various . T he ultrasound findings of vitreoretinal lymphoma are not specific , w hile the diffuse thickened uvea and retrobulbar hypoechoic lesions encircled optic nerve and eye wall suggest the possibility of uveal lymphoma .

12.
Chinese Journal of Experimental Ophthalmology ; (12): 292-296, 2019.
Article in Chinese | WPRIM | ID: wpr-744033

ABSTRACT

Objective To compare the agreement of axial length (AL),anterior chamber depth (ACD) and keratometry measured by IOLMaster 500 with IOLMaster 700 in cataract eyes with high myopia.Methods A cross-sectional study was performed.One hundred and fifty-two eyes of 87 cataract patients with high myopia were included from September to October 2017 in Beijing Tongren Hospital.The best corrected visual acuity (BCVA) was 0.05-1.0,and the refraction power was-6.25--21.00 D,with an average power of (-13.625 ± 7.375) D.A L,ACD and keratometry (Kf,Ks) were measured by IOLMaster 700 and IOLMaster 500 respectively for all the eyes.The eyes were assigned to AL>26-≤28 mm group,AL>28-<30 mm group and AL≥30 mm according to the results of IOLMaster 500.The measured differences between two devices were assessed using paired samples t-test,and the measured consistency of the two devices was evaluated using Bland-Altman agreement analysis.This study protocol was approved by Ethics Committee of Beijing Tongren Hospital and complied with Declaration of Helsinki.Results There were no significant differences in the AL and Kf measured by the two devices in all the three groups (all at P>0.05).Both ACD and Ks values measured by IOLMaster 700 were lower than those by IOLMaster 500 (both at P<0.05),which were clinically acceptable.The percentage beyond 95% agreement limit between IOLMaster 700 and IOLMaster 500 were 4.10%,2.17% and 3.03% for AL differences and 4.10%,4.34% 和 3.03% for Kf difference in the three groups.Significant differences were found in ACD and Ks between IOLMaster 700 and IOLMaster 500 at a clinically acceptable level (both at P<0.05),and Bland-Altamn agreement analysis showed that the percentage beyond 95% agreement limit between IOLMaster 700 and IOLMaster 500 were 4.10%,4.34% and 3.03% for both ACD and Ks differences in the three groups.Conclusions There is a good agreement in AL,ACD,Kf and Ks measured by IOLMaster 700 with IOLMaster 500 and is clinically interchangeable in cataract eyes with high myopia.However,IOLMaster 700 is better because it can provide the OCT image of macula.

13.
Chinese Journal of Medical Genetics ; (6): 922-925, 2019.
Article in Chinese | WPRIM | ID: wpr-776774

ABSTRACT

OBJECTIVE@#To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson's syndrome.@*METHODS@#A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed.@*RESULTS@#The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson's syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c.1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes.@*CONCLUSION@#The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson's syndrome may be a rare clinical phenotype of CADASIL.


Subject(s)
Humans , Male , Middle Aged , CADASIL , Genetics , Low Back Pain , Magnetic Resonance Imaging , Mutation , Parkinson Disease , Receptor, Notch3 , Genetics
14.
Journal of Central South University(Medical Sciences) ; (12): 338-344, 2019.
Article in Chinese | WPRIM | ID: wpr-813296

ABSTRACT

The subarachnoid hemorrhage (SAH) caused by ruptured intracranial aneurysms (IAs) is always a lethality. Increasing evidence suggests a familiar aggregation of IA occurrence, which may relate to genetics and there might be an increasing number of IAs in IA families when mutation of disease genes is aggregating. With the progress in the study of familiar intracranial aneurysms (FIAs), a large number of chromosome fragments are found to be related with IAs, such as 1p36, 5q31, 7q11, 14q22, 17cen, 19q13, Xp22. Further studies indicated that mutation of several genes could be the cause of FIAs, including TNFRSF13B, ANRIL, SOX17, ADAMTS15, RNF213 and LOXL2. The independent genetic epidemiologic study on aneurysm families can be used to discover the related genes more effectively, and to explore the mechanism of occurrence of IAs. It's also the precondition for the prevention of disease.


Subject(s)
Humans , Adenosine Triphosphatases , Amino Acid Oxidoreductases , Genetic Research , Intracranial Aneurysm , Genetics , Risk Factors , Ubiquitin-Protein Ligases
15.
Chinese Journal of Neurology ; (12): 111-117, 2018.
Article in Chinese | WPRIM | ID: wpr-710938

ABSTRACT

Objective To investigate the effects of apolipoprotein E (ApoE) deficiency on neuromyelitis optica (NMO) model of spinal cord sections induced by NMO-IgG and complement in vitro.Methods NMO-IgG was extracted from the patients with NMO,and complementary serum from healthy people.The spinal cord sections of seven days old C57BL / 6J mice with wild type (WT) or ApoE knockout (ApoE-/-) were cultured for seven days.The spinal cords of the two genotypes were randomly divided into experimental groups (NMO-ApoE-/-group,NMO-WT group) and control groups (C-AopE-/-group,C-WT group),respectively.The experimental groups were treated with NMO-IgG and complementary serum,and the control groups only with complementary serum.Then all the sections were continued incubating for 24 h before harvested.Immunofluorescence staining and modified thick tissue film immunofluorescence were used to detect the expression of aquaporin 4 (AQP4),glial fibrillary acidic protein (GFAP),ionic calcium fibronectin (IBA1),myelin basic protein (MBP) and human neurofilament protein L (NFL) respectively.The lesion score was calculated according to the areas percentage of AQP4 and GFAP deficiency in spinal cord sections.Results Compared with the respective control groups,the expressions of AQP4,GFAP,MBP and NFL were deficient in the experimental groups (The percentages of missing area in the NMO-ApoE-/-group were 83.88% ± 5.01%,82.44% ± 6.11%,45.02% ± 5.11% and 54.65% ± 7.66% respectively,while the percentages of missing area in the C-ApoE-/-group were 10.44% ± 4.07%,5.73% ±0.82%,9.12% ±1.41% and 5.72% ±0.81%,t=34.143,37.269,20.300,19.051,allP <0.05;The percentages of missing area in the NMO-WT group were 77.74% ± 6.75%,75.62% ± 5.76%,37.60% ± 4.88% and 46.29% ± 4.98%,while the percentages of missing area in the C-WT group were 9.31% ± 2.97%,5.80% ± 0.82%,9.10% ± 1.63%,5.80% ± 0.81% respectively,t =27.828,35.934,16.613,24.057,all P < 0.05).While IBA1 was up-regulated and the damage scores were higher in both the NMO-ApoE-/-group and the NMO-WT group.The percentages of missing area in the NMO-ApoE-/-group and the NMO-WT group showed statistically significant difference (t =2.194,2.436,3.149,2.746,all P < 0.05).The expression level of IBA1 in the NMO-WT group was higher than that in the C-WT group (19.88 ± 1.11 vs 11.18 ±0.65,t =25.270,P <0.05),while the expression level of IBA1 in the NMO-ApoE-/-group was higher than that in the NMO-WT group (25.81 ± 1.61 vs 19.88 ± 1.11,t =9.101,P <0.05).The degree of deficiency or up-regulation of above-mentioned proteins was more obvious in the NMO-ApoE-/-group than that in the NMO-WT group.Conclusions NMO-IgG extracted from NMO patients can induce NMO-like damage in isolated tissue at the presence of complement.ApoE deficiency promotes the further activation of microglia,thereby aggravates the injury of astrocyte in the model of NMO.

16.
Chinese Journal of Experimental Ophthalmology ; (12): 93-96, 2017.
Article in Chinese | WPRIM | ID: wpr-638173

ABSTRACT

Retinal artery occlusion (RAO) is an ocular emergency.Inappropriate therapy results in visual loss.Visual loss caused by RAO occurs as a result of loss of blood supply with the inner retinal layers.We reviewed a number of therapies that have been used in the treatment of RAO,including vasodilators,reducing intraocular pressure,neuro regulation,ocular fundus laser,surgery,etc.Thrombolytic therapy may result in an increased risk of intracranial and systemic hemorrhage,while the intravenous use of thrombolytic therapy should be within a window of time.At the same time,it is noticed that patients with RAO may have a risk of cerebral stroke and other vascular conditions.The risk factors for RAO are same as to atherosclerotic risk factors in stroke and heart disease,and these tactors must be actively evaluated to prevent further medical comorbidities.

17.
Chinese Journal of Medical Ultrasound (Electronic Edition) ; (12): 734-737, 2017.
Article in Chinese | WPRIM | ID: wpr-712021

ABSTRACT

Objective To explore the diagnostic value of ultrasonic elastography in choroidal melanoma. Methods A total of 96 cases (97 eyes) of choroidal melanoma were included in present study from June 2016 to June 2017 in Eye Center of Beijing Tongren Hospital, Capital Medical University. The control group consisted of 18 patients with choroidal hemangioma (18 eyes). All eyes were examined by color Doppler ultrasound and ultrasonic elastosonography. The strain ratio of the tumor and surrounding normal tissue was calculated for each case. By comparing the strain ratio between choroidal melanoma and choroidal hemangioma, the diagnostic value of ultrasound elastography in choroidal melanoma was investigated. Results The strain ratios of the two groups were 39.51±15.79 for choroidal melanoma and 13.15±10.40 for choroidal hemangioma. The independent sample t-test was performed between the two sets of data. The difference of the strain ratio between choroidal melanoma and choroidal hemangioma was statistically significant (t=6.802, P<0.001). Conclusions The stiffness of ocular malignant tumor (choroidal melanoma) is significantly higher than that in intraocular benign tumor (choroidal hemangioma). Ultrasonic elastography can be used as an important examination for the diagnosis and differential diagnosis of choroidal melanoma.

18.
Chinese Journal of Medical Ultrasound (Electronic Edition) ; (12): 730-733, 2017.
Article in Chinese | WPRIM | ID: wpr-712020

ABSTRACT

Objective To explore the value of conventional ultrasound, color Doppler ultrasound and contrast-enhanced ultrasound (CEUS) in the diagnosis of sub-retinal hemorrhage. Methods A total of 26 patients with sub-retinal hemorrhage were examined by conventional ultrasound, color Doppler ultrasound and CEUS. The results of medical history, ultrasound, color Doppler ultrasound and CEUS were recorded and analyzed.And the difference of the detection rate between the three methods was analyzed by χ2test. Results The mean fundus diameter of the sub-retinal hemorrhage was (5.31±2.21) mm, and the mean height was (1.97±0.98) mm. In twenty-two eyes (84.6%) the lesions were located in the posterior pole of the ocular wall, while in two eyes (7.7%) the lesions were located in the equator and peripheral of the ocular wall. Seven eyes (26.9%) had dome-shaped mass, ten eyes (38.5%) had flat-shaped mass, and nine eyes (34.9%) had irregular-shaped mass. The echogenecity of the lesions was homogeneous in twelve eyes (46.2%), and heterogeneous in fourteen eyes (53.8%). The lesions showed clear margin in seventeen eyes (65.4%). Blood flow signals can be detected in twenty-three eyes (88.5%). The surface of the lesions was filled by contrast-medium in all cases. The detection rate of sub-retinal hemorrhage with color Doppler and contrast-enhanced ultrasound was higher than that of conventional ultrasound, and the difference was statistically significant. Conclusion Color Doppler ultrasonography and CEUS can provide a powerful basis for the clinical diagnosis of sub-retinal hemorrhage, while CEUS has higher application value.

19.
Chinese Journal of Medical Ultrasound (Electronic Edition) ; (12): 725-729, 2017.
Article in Chinese | WPRIM | ID: wpr-712019

ABSTRACT

Objective To evaluate the value of color Doppler ultrasonography in the diagnosis of retinoblastoma (RB). Methods One hundred and eighty-two patients (199 eyes) with RB confirmed by pathology from June 2012 to June 2016 in Beijing Tongren Hospital were included in this study. The two-dimensional gray-scale image and color Doppler imaging ultrasound features were observed. The variance analysis was used to compare the width and height of different morphologies. Comparison the detection rate of the two methods by χ2test.Results The ultrasonography of RB was characterized by substantial masses of the eyeball, which could be hemispherical, spherical, irregular, filled with vitreous cavity, or diffuse along the retina. The results of variance analysis showed statistical difference in three shapes (F= 29.134, 24.474, P<0.001),LSD-t test showed difference between hemisphere and spherical,spherical and irregular shape, hemispherical and irregular shape. The t values of basal width were 2.457,-2.333 and-6.205, respectively and all P < 0.05 respectively. The t value of height were 3.917,-6.711 and-7.244, respectively and all P < 0.05.All lesions were uneven echo. Calcification and localized low echo area within the mass was observed in 93.47% (186/199) and 52.76% (105/199) eyes respectively. 46.73% (93/199) retinal detachment and 31.16% (62/199) vitreous opacity is present. Colorful blood flow signals extended from the central retinal vessels could be seen inside the masses of 98.49% (196/199) eyes. Two-dimensional image and color Doppler imaging ultrasound were consistent with the pathological diagnosis in 96.5% (192/199) and 99.5% (198/199) RB cases, respectively.The difference was statistically significant (χ2=4.167, P=0.031). Conclusions Retinoblastoma has characteristic ultrasound manifestations. Color Doppler ultrasonography is a valuable clinical tool in the diagnosis of RB.

20.
Chinese Journal of Schistosomiasis Control ; (6): 644-647,682, 2016.
Article in Chinese | WPRIM | ID: wpr-605925

ABSTRACT

Objective To explore the cut?off value of the indirect haemagglutination test(IHA)method for schistosomiasis japonica diagnosis in different endemic areas. Methods Totally 55 nature villages of the lake?type endemic counties,Yugan and Xinzi,in Poyang Lake Region of Jiangxi Province were chosen as the study fields,and all the villagers over 5 years old were parallelly examined by Kato?Katz method+miracidial hatching test and IHA method. The detection data were analyzed by the correlation analysis,and the threshold values of the IHA method in different endemic areas were decided by the receiver operat?ing characteristic(ROC)curve. Results The positive rate of stool examinations of the villagers was correlated with the distribu?tion trend of the antibody level of whole population(r=0.588,P0.05). The antibody level of stool?negative population during the period of 2008 to 2011 detect?ed by IHA method dropped year by year,and the annual difference was statistically significant(F=3.650,P0.05). When the positive rates were5%,the specificity of diagnosis could be improved when 1∶80,1∶20 and 1∶10 were used as the cut?off val? ues of IHA correspondingly. Conclusion The different threshold values for diagnosis of schistosomiasis japonica should be con?sidered while using IHA method to screen out patients in different endemic areas.

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