Prenatal diagnosis, as one of the core components in the prevention and control of birth defects, is constrained by both “time sensitivity” and “data availability”. The diagnostic model driven by expert experience and manual interpretation can no longer meet the demands of rapidly evolving detection technologies, which generate massive, high-dimensional data. Additionally, issues such as delayed professional training and regional development imbalances further hinder the overall improvement of prenatal diagnosis efficacy. This article systematically elaborates on typical application scenarios of artificial intelligence-assisted prenatal diagnosis from two core aspects: the intelligent optimization of diagnostic technologies and the standardization of institutional and personnel management. It also explores the potential of emerging intelligent technologies like federated learning and digital twins, aiming to promote the transformation and upgrading of the prenatal diagnosis field from standardization and normalization toward precision and systematic high-quality development.
ObjectiveTo investigate the clinical characteristics and surgical management of the familial exudative vitreoretinopathy (FEVR)-associated rhegmatogenous retinal detachment (RRD).
MethodsRetrospective noncomparative case series. Thirty-three eye of 32 patients were diagnosed FEVR-associated RRD by Fluorescein fundus angiography. There were 26 males and 6 females. The male to female ratio is 4.3:1 with an average age of 19.35±8.83 years. The detection of best corrected visual acuity (BCVA), refraction status, fundus photograph and fluorescein fundus angiography(FFA)were underwent in all patients. FEVR was confirmedby FFA and positive family history. The BCVA, refraction status, morphology of retinal detachment, location, size and shape of retinal hole, presence and grade of proliferative vitreoretinopathy (PVR), and subretinal proliferation were recorded.
ResultsAs for the refractive status, the scope of refraction was +2.0 D to-13.0 D andthe BCVA were range from light perception to 0.7. Atrophy holes which located at the temporal half were responsible for retinal detachment in all cases. Besides, horseshoe tears were noted in 6 eyes (18.18%), while macular tears were noted in 2 eyes of RRD (6.06%). The PVR greater than stage C2 was noticed in 10 eyes (30.30%), while subretinal proliferation was presented in 23 eyes (69.70%).
ConclusionsMale predominance, juvenile onset and associated with moderate to high myopia are the main characteristics in FEVR-associated RRD. Atrophy holes at the temporal half and the subretinal proliferations were most commonly in FEVR-associated RRD. Detailed fuduns and FFA examination of the fellow eye should be undergone to avoid misdiagnosis.
ObjectiveTo evaluate the clinical value of detecting specific IgG against Toxocara canis in intraocular fluid for the diagnosis of ocular toxocariasis(OT).
MethodsFifty patients diagnosed as having OT(OT group), 152 otolaryngology patients (serum control group) and 70 other oculopathy patients (intraocular fluid control group) were enrolled in the study. Intraocular fluids(28 aqueous humor and 22 vitreous humor) and serum samples of OT group were analyzed for specific IgG against Toxocara canis by enzymelinked immunosorbent assay, so were the intraocular fluids(46 aqueous humor and 24 vitreous humor) and 152 serum samples of two control group. Specific IgG level was compared between paired serum and intraocular fluids of OT group.
Results68.00% serum samples of OT group were positive for specific IgG against Toxocara canis and the U value was 20.42±17.01. The positive rate was 88.00% and U value 25.72±23.04 in intraocular fluids. In serum control group, it was 2.63% and 2.37±2.71 respectively. The intraocular fluids were negative and U value 0.69±0.34 in intraocular fluid control group. The difference of specific IgG level was proved significant between OT group and control group in both serum and intraocular fluid (Z=8.962, 8.120; P=0.000, 0.000). Twenty-eight patients (56.00%) were positive for specific IgG in both serum and intraocular fluid. Six patients (12.00%) were positive only in serum, and 16 patients (32.00%) only in intraocular fluid. The positive rate was significantly higher in intraocular fluid than in serum (χ2=4.720, P=0.028). Moreover, 64.00% intraocular fluid showed higher specific IgG level than pared serum.
ConclusionThe complementary detection of intraocular specific IgG have referential value in diagnosing ocular toxocariasis.
ObjectiveTo observe Leber's hereditary optic neuropathy (LHON) microperimetry features, discuss its significance in diagnosis and treatment of LHON assessment. MethodsA retrospective clinical study. A total of 13 LHON patients (25 eyes) diagnosed in Department of Ophthalmology of the First Affiliated Hospital of Army Medical University from May 2015 to May 2020 (disease group) were included in the study, including 9 males (18 eyes) and 4 females (7 eyes), and beginning with the age of 15.0 (10.0, 57.0). Ten healthy volunteers (19 eyes) were selected as the normal group, including 7 males (13 eyes) and 3 females (6 eyes), aged 22.0 (6.0, 46.0) years at the first diagnosis. According to the course is divided into: asymptomatic group (carriers), subacute (＜6 months), the dynamic group (6-12 months), chronic group (＞12 months). There were 7, 6, 5 and 7 eyes, respectively. All eyes underwent best corrected visual acuity (BCVA) and microperimetry. BCVA test was performed using the international standard visual acuity chart, which was statistically converted to the logarithm of the minimum Angle of resolution (logMAR) visual acuity. MP-3 microperimetry was used to perform microperimetry, and the mean sensitivity (MS) values of five regions were recorded: center, superior, temporal, inferior, and nasal. Mann-Whitney U test was used for comparison between two groups, and Kruskal-Wallis H test was used for comparison between multiple groups. ResultsCompared with the normal group, MS in the center, superior, temporal, inferior and nasal of the diseased group decreased, and the differences were statistically significant (Z=－5.629, －4.906, －5.630, －5.631, －5.227; P＜0.05). There were significant differences in different regions of MS between different course groups (H=12.296, 11.583, 10.110, 12.994, 8.663; P＜0.05). There were significant differences in logMAR BCVA and central MS between asymptomatic group and subacute group (P=0.040, 0.007). There were significant differences in temporal, inferior and superior MS between subacute group and dynamic group (P=0.026, 0.017, 0.018). Dynamic and chronic group, MS above the difference was statistically significant (P=0.031). Idebenone treatment significantly improved visual field defects in 4 of 23 eyes. ConclusionsIn the early stage of LHON, the central visual field defect gradually progresses to the temporal, inferior and superior areas, and the temporal and inferior areas are more severe. Visual field defects reached a stable level at 6-12 months. MP-3 can assist in early diagnosis of LHON, and provide reliable basis for efficacy evaluation.
【Abstract】 Objective To investigate both incidence and mechanism attributing to steroid-associated osteonecrosisof femoral head(ONFH) using an experimental protocol with a single low-dose l i popolysaccharide (LPS) injection andsubsequently three injections of high-dose methylprednisolone (MPS). Methods Twenty-five New Zealand white rabbits with body weight of (3.0 ± 0.3) kg were divided randomly into 2 groups. In treatment group, 19 rabbits received one intravenous injection of LPS (10 μg/kg); 24 hours later, three injections of 20 mg/kg of MPS were given intramuscularly at an interval of 24 hours. Additional 6 rabbits which received normal sal ine injection at the same time point were used as controls(control group). The blood samples were collected for hematological examinations before and after LPS injection, MRI was performed on bilateral hip six weeks after last MPS injection, meanwhile, bone marrow was aspirated from femoral head region to evaluate stem cell’s activity. Bilateral femoral heads were harvested to make histopathology examination. Results All animals survived throughout the experiment period except one death on the second day after LPS injection. In the histopathological examinationfor the femoral head, ONFH+ was observed in 16 rabbits (88.9%), and the lesions were mainly in the metaphysis. In ONFH+ rabbits, micro vessels fibrous thrombosis and extravascular marrow fat cell size increasing were found around necrotic bone; The femoral heads of control group had no changes. MRI accurate ratio was 93.8% (15/16). Compared to basel ine, a significant decrease in ratio of tissue plasminogen activator/plasminogen activator inhibitor 1 and activated partial thromboplatin time, and a significant increase in ratio of low-density l ipoprotein/high-density l ipoprotein were only found in ONFH+ rabbits (P lt; 0.05). Meanwhile there was a significant decrease in the number of CFU-F (8.50 ± 9.63) compared with the control (70.17 ± 7.78, P lt; 0.05). Conclusion A single low-dose LPS injection and subsequent three injections of high-dose MPS is effective on building steroid-associated ONFH model, coagulation and l ipometabol ism abnormal ity, activity degeneration of stem cell may be the key factors of ONFH.
ObjectiveTo summarize the clinicopathological features of microencapsulated/reticular schwannoma.MethodsTwo cases of microencapsulated/reticular schwannoma treated in West China Hospital of Sichuan University were retrospectively collected. The histological and immunohistochemical features were summarized, and the related literatures were reviewed.ResultsTwo cases of microcystic/reticular neurilemmoma diagnosed and treated in West China Hospital of Sichuan University were male. The clinical manifestations were “dull pain in the right lower abdomen” and “mass of left index finger”. Microscopically, the characteristic reticular or cribriform structures were found in all cases, and lymphocytic sheath was seen in 1 case. Immunohistochemical staining showed S-100, glial fibrillary acidic protein (GFAP) and calretinin positive. By February 2020, only 41 cases were reported in the literatures （there were no cases of this group),there was no significant gender difference, the median age was 55 years (11–93 years), and the median size of the lesion was 2.1 cm (0.4–13.0 cm). Most of them were found by accident, without obvious symptoms and signs, and no history of neurofibromatosis type 1 or 2. Microencapsulated/reticular schwannoma in this patients mainly occurs in the viscera, especially in the gastrointestinal tract (mostly in the the colorectal of lower gastrointestinal tract ), most of them were solitary nodular masses without capsule. Microscopically, the boundary was clear, and the characteristic microcapsules and reticular structures were seen. The tumor cells were diffusely expressing S-100 protein, and GFAP and calretinin were expressed in varying degrees. Electron microscopy showed the characteristics of Schwann cells.ConclusionsMicrocystic/reticular schwannoma is a rare subtype of schwannoma, which needs to be differ-entiated from multiple benign and malignant neoplasms. The diagnosis of the tumor is a challenge for the pathologist.
Objective To observe the clinical features, the complications and treatment effects of intermediate uveitis. Methods The clinical data of 36 patients (66 eyes) with intermediate uveitis were retrospectively analyzed，including the clinical features, fundus fluorescein angiography (FFA) features, complications，treatment effects and prognosis. The patients, 21 males and 15 females, aged from 8 to 70 years，with the mean age of 34.8 years. There were 30 cases with bilateral lesions and 6 cases with unilateral lesions. Results The main clinical manifestation were vitreous opacity, peripheral retinal venous lesions, optic disc edema, macular edema and posterior subcapsular cataract. The results of FFA showed that peripheral retinal venous lesions, optic disc hyperfluorescence, cystoid macular edema and retinal vein staining. After the treatment, the visual acuity of 31 cases（60 eyes，90.9%) were improved, 4 cases（5 eyes，7.6%) were stable and 1 case（1 eye，1.5%) was worsening. The main complications were cystoid macular edema, posterior subcapsular cataract and vitreous hemorrhage which leads to visual damage. Conclusions Intermediate uveitis was a common bilateral and chronic progressive intraocular inflammation，the anterior vitritis, pars plana and peripheral retinal vascular changes were mainly involved. Early diagnosis and proper treatment may prevent the permanent visual damage.
Objective To analyze the characteristics of images of fundus fluorescein angiography (FFA) in patients with central serous chorioretinopathy (CSC).Methods We observed the positions of leakage spots of retinal pigment epithelium (RPE) and analyzed their characteristics in 598 CSC patients. The ages, visual acuty, detachment areas of sensory retina, and leakage patterns of RPE were recorded and the correlation of them were analyzed. Results The leakage concentrated in the posterior pole, which occurred more frequently in the superior quadrant, nosal quadrant, and near fovea regions than in the inferior quadrant,temporal quadrant, and far regions from fovea, respectively (chi;2=67.13,20.93, 212.715; Plt;0.01).We found that there were relations between the ages of patients and the patterns of the leakage. A total of 35 patients (54.7% out of 64) at the age of ge;50 had small leakage; 82 patients (53.2% out of 154) at the age of 35-39 had diffusing leakage. Smaller retinal detachment in patients with multiple serous leakage and bigger retinal detachment area in patients with single serous leakage were found; no statistical significance was found (F=1.925,Pgt;0.05). There was negative correlation between the visual acuity and the detachment area in CSC patients (t=-0.335,Plt;0.01), and there was no correlation between the visual acuity and the distances from the leakage spots to the fovea (t=-0.029, -0.145;Pgt;0.05).Conclusion The leakages occurs in various regions whose difference is significant; the patterns of leakage are related to the ages; there is no relation between the serous retinal detachment area and the number of the leakage.
ObjectiveTo observe the characteristics of images of optic coherence tomography (OCT) for the macular region of congenital retinoschisis and investigate its significance.MethodsThe data of OCT of 11 patients (20 eyes) with congenital macular retinoschisis diagnosed by direct or preplacedmirror ophthalmoscopy, fundus fluorescein angiography (FFA), and electroretinography (ERG) were retrospectively analyzed.ResultsThe images of OCT showed split in the mid portion of sensory retina at the macula in all eyes. The retina of fovea centralis was divided by the split into two slightly thickening layers. In addition, in a few number of cases, the parafoveal sensory retina which became much thickening with 2 splits, was divided into 3 layers.ConclusionThe characteristic of images of OCT in macular congenital retinoschisis is the split cavity at the middle layer of the retina, and OCT has a high sensitivity in the diagnosis of congenital retinoschisis. (Chin J Ocul Fundus Dis, 2005,21:93-96)
Objective To observe the prognosis of visual acuity (VA) of patients with different classification of polypoidal choroidal vasculopathy (PCV). Methods Sixty-seven PCV patients (68 eyes) diagnosed by fundus photography, fundus fluorescein angiography, indocyanine green angiography (ICGA) and ocular coherence tomography were enrolled in this retrospective study. The patients were classified into static, exudative, small hemorrhage and large hemorrhage according to activity and pathological characteristics of lesions. The patients were classified into aciniform, single or several single, combined branching choroidal vascular network (BVN) according to morphological characteristics and combination with BVN of lesions on ICGA. The patients also were classified into macular, vascular arcade, peripapillary and mixing zone according to distribution of lesions. The VA of all the types were observed. Results There were 16, 19, 19, 14 eyes in the type of static, exudative, small hemorrhage and large hemorrhage PCV, which with logMAR VA of 0.34plusmn;0.52, 0.70plusmn;0.98, 0.60plusmn;0.50, 0.91plusmn;0.75 respectively. The VA of static PCV patients was better than that in exudative, small hemorrhage and large hemorrhage PCV patients (q=4.75, 4.26, 5.13; P＜0.05). There was no significant difference of VA between exudative and small hemorrhage PCV patients (q=0.98, P＞0.05). There were 22, 38 and eight eyes in the type of aciniform, single or several single, combined BVN PCV, which with logMAR VA of 0.52plusmn;0.55, 0.59plusmn;0.43, 0.80plusmn;0.95 respectively. The VA of combined BVN PCV patients was worse than that in aciniform and single or several single PCV patients (q=3.81, 3.02;P＜0.05). There were 34, 13, 8 and 13 eyes in the type of macular, vascular arcade, peripapillary and mixing zone PCV, which with logMAR VA of 0.78plusmn;0.43, 0.57plusmn;0.37, 0.38plusmn;0.27, 0.74plusmn;0.41 respectively. The VA of macular PCV patients was less than that in vascular arcade and peripapillary PCV patients (q=4.61,5.11;P＜0.05). There was no significant difference of VA between macula and mixing zone PCV patients (q=0.73,P＞0.05). Conclusions The VA of PCV patients is variable.It is related to activity and pathological characteristics of lesions, morphological characteristics and combination with BVN of lesions on ICGA, and distribution of lesions.
