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Duane retraction syndrome (DRS) is a rare congenital eye movement disorder causing by the dysplasia of abducens nerve, and has highly variable phenotype. MRI can reveal the endophenotype of DRS. Most DRS cases are sporadical and isolated, while some are familial or accompanied by other ocular disorders and systemic congenital abnormalities. CHN1 was the most common causative gene for familial DRS. Until now, 13 missense variants of CHN1 have been reported. In this study, we enrolled two unrelated pedigrees with DRS. Detailed clinical examinations, MRI, and the whole exome sequencing (WES) were performed to reveal their clinical and genetic characteristics. Patients from pedigree-1 presented with isolated DRS, and a novel heterozygous variant c.650 A > G, p. His217Arg was identified in CHN1 gene. Patients from pedigree-2 presented with classic DRS and abnormalities in auricle morphology, and the pedigree segregated another novel heterozygous CHN1 variant c.637 T > C, p. Phe213Leu. A variety of bioinformatics software predicted that the two variants had deleterious or disease-causing effects. After injecting of two mutant CHN1 mRNAs into zebrafish embryos, the dysplasia of ocular motor nerves (OMN) was observed. Our present findings expanded the phenotypic and genotypic spectrum of CHN1 related DRS, as well as provided new insights into the role of CHN1 in OMN development. Genetic testing is strongly recommended for patients with a DRS family history or accompanying systemic congenital abnormalities.
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Síndrome da Retração Ocular , Anormalidades do Olho , Animais , Humanos , Síndrome da Retração Ocular/genética , Peixe-Zebra/genética , Linhagem , Mutação de Sentido IncorretoRESUMO
INTRODUCTION: The aim of this study was to explore the association between parental myopia and high myopia with children's refraction and ocular biometry in large-scale Chinese preschool children from the Beijing Hyperopia Reserve Study. SUBJECTS/METHODS: This cross-sectional kindergarten-based study enrolled children aged 3-6 years. Cycloplegic refraction, axial length (AL), and corneal radius (CR) were measured for all children. Parents were asked to complete a questionnaire about refractive status (no myopia, mild myopia <-3 D, moderate myopia ≥-3 D and ≤-6, and high myopia >-6 D). RESULTS: The study enrolled 2,053 children (1,069 boys and 984 girls), with a mean age of 4.26 ± 0.96 years and mean spherical equivalent refraction (SER) of 1.11 ± 0.97 diopter. Of the children, 90.7% had at least one myopic parent, and 511 children (24.9%) had at least one highly myopic parent. SER decreased significantly with increasing severity of parental myopia (p < 0.001). Preschool children's myopia was independently associated with parental myopia (OR, 10.4 and 11.5 for one and two highly myopic parent[s]). Age (OR = 1.1), gender (OR = 1.7; girls as references), near work time (OR = 1.2), and both maternal (OR, 1.4 and 2.0 for moderate and high myopia) and paternal myopia (OR, 1.6 and 1.9 for moderate and high myopia) were independent risk factors for lacking hyperopia reserve. CONCLUSION: Severe parental myopia was associated with a lower SER, longer AL, and higher AL/CR ratio in preschool children. Parental myopia and near work may predispose children to faster elimination of hyperopia reserves before exposure to higher educational stress.
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Hiperopia , Miopia , Masculino , Feminino , Humanos , Pré-Escolar , Hiperopia/diagnóstico , Estudos Transversais , Miopia/diagnóstico , Refração Ocular , Pais , Córnea , BiometriaRESUMO
BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree. METHODS: Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic biomicroscopy, optical coherence tomography, wide-field fundus imaging, and visual field test were performed to evaluate the clinical manifestations. Whole-exome sequencing (WES) and bioinformatics analysis were conducted in eight members from this pedigree to identify the causative mutation. RESULTS: WES revealed a novel heterozygous substitution of PAX6 (NM_000280.5:c.157G > A, p.(Val53Met) (chr11:31823309 C > T, hg19)), which cosegregated with the phenotype of this pedigree. All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis (ASD) including microcornea, sclerocornea, obvious symmetrical corectopia, iris stromal dysplasia, goniodysgenesis, and abnormal distribution of fundus blood vessels. The girl of the fraternal twins also demonstrated bilateral temporal deviation of lenses and abnormal tissue membrane connecting anterior chamber angle and lens anterior capsule in the right eye. The mother additionally showed apparent cataract bilaterally and cupping of the optic disc in her left eye. CONCLUSION: A novel missense variant in PAX6 gene was detected in a Chinese pedigree demonstrating bilateral FH and ASD. It is really distinctive that the ASD involves almost all parts of the anterior segment, and bilateral symmetrical corectopia is the most perceptible sign. This study expands the phenotypic and genotypic spectrum of PAX6-associated ocular diseases, and facilitates the understanding of the crucial role that PAX6 plays in the development of the eye. Meanwhile, PAX6 could be considered as a candidate pathogenic gene of bilateral symmetrical corectopia.
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Aniridia , Proteínas de Homeodomínio , Feminino , Humanos , Fator de Transcrição PAX6/genética , Proteínas de Homeodomínio/genética , Genótipo , Fenótipo , Mutação , Linhagem , Proteínas do Olho/genética , Aniridia/diagnóstico , Aniridia/genética , Aniridia/complicaçõesRESUMO
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). METHODS: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. MAIN OUTCOME MEASURES: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. CONCLUSIONS: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.
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Albinismo Ocular , Albinismo Oculocutâneo , Albinismo , Defeitos da Visão Cromática , Albinismo Ocular/diagnóstico , Albinismo Ocular/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Proteínas do Citoesqueleto , Fóvea Central/anormalidades , Humanos , Proteínas de Membrana , Transtornos da Visão/diagnósticoRESUMO
OBJECTIVE: Brown syndrome is characterized by limitation of elevation in adduction, with complex mechanisms involving muscle, tendon, and trochlea. Here, we investigated mechanisms of Brown syndrome by magnetic resonance (MR) imaging. METHODS: It was a retrospective case series study. Fourteen patients with unilateral Brown syndrome between 3 and 54 years of age (10 cases of congenital and 4 cases with acquired disease) were included in the study. All patients underwent complete ophthalmic and orthoptic evaluation. Imaging of the ocular motor nerves at the brainstem was performed on 3D-FIESTA sequence, the orbits were imaged with FSE T1, T2WI using surface coils. RESULTS: Nine of 10 with congenital Brown syndrome demonstrated hypoplasia of the superior oblique (SO) of the affected side. Abnormal low signal intensity in the trochlea area was found in one patient. Three of 4 acquired patients had a history of trauma and were demonstrated fracture of the trochlea, extensive scarring, and superior orbital fracture. One acquired case was demonstrated scarring of anterior part of the SO and hypoplasia of the posterior part. CONCLUSION: Brown syndrome consists of a series of diseases. Their clinical features are quite similar while their anatomical mechanism varies in numerous ways. Therefore, based on patient's individual pathophysiology, the management in Brown syndrome should be personalized.
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Transtornos da Motilidade Ocular/patologia , Nervo Oculomotor/patologia , Adolescente , Adulto , Tronco Encefálico , Criança , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/congênito , Músculos Oculomotores/inervação , Músculos Oculomotores/patologia , Fraturas Orbitárias/complicações , Fraturas Orbitárias/diagnóstico , Estudos Retrospectivos , Tendões , Nervo Troclear/patologiaRESUMO
When conceptualizing age-specific onsets and sex-specific characteristics of neuropsychiatric diseases in a neurobiological context, it may be crucially important to consider differential trajectories of aging. Here, we investigated effects of age, sex, and their interactions on absolute and relative volumes of subcortical structures with known involvement in psychiatric disorders, including the basal ganglia, thalamus, hippocampus, and amygdala. Structural MRI data of 76 healthy subjects (38 males, 19-70 years) from the ICBM database were analyzed. Age-related absolute atrophy was generally found in the basal ganglia and thalamus, while in the hippocampus decline was only observed in males, and was generally absent in the amygdala. Disproportionate degeneration in the basal ganglia and thalamus, exceeding cortical decline was specific for females. When allowing higher-order models, a quadratic model could better describe the negative relation of absolute volume and age in the basal ganglia in males, and generally in the hippocampus and amygdala. We could show that negative age-relations are highly specific for certain subcortical structures in either gender. Importantly these findings also emphasize the significant impact of analytical strategies when deciding for correction of subcortical volumes to the whole-brain decline. Specifically, in the basal ganglia disproportionate shrinkage in females was suggested by the relative analysis while absolute volume analysis rather stressed an accelerating decline in older males. Given strong involvement of the basal ganglia in both cognitive aging and emotional regulation, our findings may be crucial for studies investigating the onset and prevalence of dementia and depressive symptoms in male and female aging.
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Envelhecimento , Encéfalo/anatomia & histologia , Caracteres Sexuais , Adulto , Idoso , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Duane retraction syndrome (DRS) is a rare congenital nonprogressive restrictive strabismus. The absence/hypoplasia of the abducens nerve and the aberrant innervation of the lateral rectus muscle by the oculomotor nerve have been hypothesized as causes of DRS, although the phenomenon of globe retraction can also occur in the setting of mechanical factors, such as congenital abnormal orbital structures or orbital trauma. We present the cases of 2 DRS patients with absent abducens nerve and abnormal muscular bands connecting the superior rectus and inferior rectus muscles on the temporal side of the optic nerve.
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Síndrome da Retração Ocular , Traumatismos Oculares , Estrabismo , Humanos , Síndrome da Retração Ocular/complicações , Síndrome da Retração Ocular/diagnóstico , Músculos Oculomotores/inervação , Nervo OculomotorRESUMO
BACKGROUND/OBJECTIVES: Tessellated fundus can exist in normal healthy eyes. This study aims to evaluate the occurrence and influencing factors of tessellated fundus in preschool children aged 3-6 years. SUBJECTS/METHODS: This kindergarten-based cross-sectional study included 1716 children with an age range of 3-6 years. All participants underwent a comprehensive eye examination and a questionnaire. According to the number of quadrants occupied by tessellated fundus around the optic disc in fundus photographs, it was divided into four grades. RESULTS: 600 (35.0%) children had peripapillary tessellation. According to the spherical equivalent (SE), the subjects were divided into three groups: Hyperopia group (SE > + 0.75D, n = 1194)ï¼Pre-myopia group (-0.50D < SE ≤ + 0.75D, n = 455); Myopia group (SE ≤ -0.50D, n = 67). The proportion of peripapillary tessellated fundus was 33.0%, 38.0%, 50.7% respectively. According to the regression analysis, in the non-myopia group (Pre-myopia group and Hyperopia group), the occurrence of peripapillary tessellated fundus was associated with longer axial length (OR, 1.566; 95% CI: 1.229-1.996, p < 0.001) and larger corneal radius of curvature (OR, 1.837; 95% CI: 1.006-3.354, p = 0.048). However, in Pre-myopia group, the corneal radius of curvature was not associated with the occurrence of peripapillary tessellated fundus (p = 0.830). In Hyperopia group, the corneal radius of curvature was associated with the occurrence of peripapillary tessellated fundus (OR, 2.438; 95% CI: 1.160-5.122, p = 0.019). CONCLUSIONS: The occurrence of peripapillary tessellated fundus is more than 30% in 3-6 year old preschool children. Tessellated fundus can also occur in non-myopic children, and is related to the length of axial length and large radius of corneal curvature.
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Fundo de Olho , Miopia , Humanos , Estudos Transversais , Masculino , Feminino , Pré-Escolar , Criança , Miopia/diagnóstico , Miopia/fisiopatologia , Miopia/epidemiologia , Disco Óptico/patologia , Disco Óptico/diagnóstico por imagem , Refração Ocular/fisiologia , Acuidade Visual/fisiologia , Inquéritos e Questionários , Hiperopia/diagnóstico , Hiperopia/fisiopatologia , Comprimento Axial do Olho/patologiaRESUMO
PURPOSE: To evaluate temporal vascular arcade angle and its influencing factors in myopic children. METHODS: It was a retrospective study, we reviewed the records of 119 patients aged 6-10 years with myopia (spherical equivalent refractive error (SER) ≤ -0.05D) in the third year of follow-up in Beijing Hyperopia Reserve Research. We measured temporal vascular arcade angles on the fundus photographs and measured 3-year rate of spherical equivalent(D/year) and axial length (AXL) changes(mm/year). RESULTS: Mean age at initial visit was 7.71±1.20 years and mean SER was -1.32±1.09D. Children were divided into two groups according to the refractive status of children at baseline: Myopia onset group (SER>-0.50D at baseline) (n = 107) and Myopia progression group (SER≤-0.50D at baseline) (n = 12). The mean SER in Myopia progression group was much smaller than Myopia onset group (P < 0.001) and mean AXL in Myopia progression group was much longer than Myopia onset group (P = 0.042). AXL (r=-0.320, P < 0.001), SER change rate (r=-0.209, P = 0.022) and AXL change rate (r=-0.232, P = 0.011) were associated with temporal vascular arcade angle in all participants. In Myopia onset group, AXL (r=-0.317, P < 0.001) and AXL change rate (r=-0.190, P = 0.05) were associated with temporal vascular arcade angle. There were no parameters were associated with temporal vascular arcade angle (all P > 0.05) in Myopia progression group. Only AXL (r=-0.306, P = 0.018) was associated with temporal vascular arcade angle in girls while AXL (r=-0.370, P = 0.004), SER change rate (r=-0.317, P = 0.013) and AXL change rate (r=-0.365, P = 0.004) were all associated with the Angle in boys. CONCLUSION: Temporal vascular arcade angle was associated with the rate of SER and AXL changes in myopia onset children, and showed gender differences. These may suggest that lamina cribrosa location has different influencing factors in different genders and different stages of myopia development. Due to the small number of people in Myopia progression group, large sample size studies are still needed in the future.
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PURPOSE: To evaluate the occurrence and influencing factors of myopia occurrence in pre-myopia children aged 3-6 years. METHODS: This study included 204 pre-myopia (-0.50D
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A pot experiment was conducted to assess the Sb phytoavailability and its accumulation in the wheat before and after remediation, using the composted manure of poultry and sheep, and a chemical amendment (limestone). The present study evaluates the effects of amendments on Sb bioavailability in different soils and investigates the relationship between bioaccumulated Sb and its availability in spiked soils using two different single extraction methods. Furthermore, a sequential extraction procedure was used to measure different fractions of Sb in soil, in order to assess the effect of remediation. The results revealed that bioavailability of Sb were highly affected by the three soil amendments on plant height, uptake of Sb by wheat. Poultry compost (Pc) and Sheep compost (Sc) increased the residual fraction of Sb in soils, and decreased the Sb uptake by wheat, enhanced the height, biomass and dry yield of the wheat crop. While the residual fraction of Sb in soils didn't obviously increased by adding Chemical (limestone) in the four soils. It is concluded that uptake of Sb in the soils significantly decreased with the addition of amended materials in the Sb spiked soils, and poultry compost is the most effective. In the lower level of Sb contaminated soils remediated by poultry compost (Pc), the uptake of Sb in wheat decreased 63.1-74.4 %, 68.7-79.0 %, 68.9-76.9 % and 66.3-82.6 % in S1, S2, S3, S4, compared to the contaminated soils without amendments, respectively.
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Compostagem , Poluentes do Solo , Ovinos , Animais , Esterco , Antimônio/análise , Poluentes do Solo/análise , Solo , Triticum , Carbonato de CálcioRESUMO
Purpose: We systematically retrospected and analyzed the general characteristics of ophthalmic drug clinical trials (CTs) registered in China from January 2014 to December 2021. Methods: Data were retrieved from the Drug Trial Registration and Information Publication Platform and then standardized and statistically classified using bibliometric analysis. Results: We identified 201 drug CTs for eye diseases, including 24 international multicenter trials. The number of drug CTs for eye diseases has considerably increased since 2017 in parallel with new policies to encourage innovation in drugs and medical devices in China. The drug types consist of biologicals (48.26%), chemicals (45.77%), and traditional Chinese medicine/natural medicines (5.97%). The main indications were age-related macular degeneration (AMD; n = 47, 23.38%), macular edema (n = 32, 15.92%), and diabetic retinopathy (n = 19, 9.45%). The trials included those in phase I (n = 67, 33.33%), phase II (n = 33, 16.42%), and phase III (n = 72, 35.82%). The phase I trials comprised 24 innovative drug treatments for AMD and 6 novel drug treatments for neuromyelitis optica spectrum disorders, with 39 biologicals and 27 chemicals. The trials mostly followed a randomized (84.08%) or masked (67.16%) design, with 90.37% of the latter being double-masked trials. Conclusion: Research and development of ophthalmic drugs have substantially increased in recent years and are influenced by regulatory policies. Among these drugs, biologicals for AMD are the most prevalent, followed by biologicals for macular edema. Randomized double-masked research designs are often used and represent high-quality evidence.
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Retinopatia Diabética , Degeneração Macular , Edema Macular , Humanos , Edema Macular/tratamento farmacológico , Degeneração Macular/tratamento farmacológico , Retinopatia Diabética/tratamento farmacológico , ChinaRESUMO
Currently, metalloid co-contamination, such as antimony and arsenic in soil, poses a serious threat to ecological stability and human health. Stabilization, a low-cost, effective, environmentally mild remediation strategy, shows enormous potential for mitigating environmental concerns. In this study, a novel FeMg modified porous biochar with different Fe/Mg proportions was prepared using the co-precipitation method to investigate the stabilizing efficiency in aqueous solutions and real soils. The optimal removal performance for Sb(V) and As(V) was the 1/3 mol ratio of Fe/Mg (3FMKBC), in which the maximum adsorption capacities of Sb(V) and As(V) were 296.9 and 195.4 mg/g, respectively. Detailed morphological and BET analyses suggested that BC effectively reduced Fe and Mg oxide agglomeration and endowed more interfacial active sites. Meanwhile, detailed adsorption behavior and surface analysis of 3FMKBC indicated that electrostatic interactions, hydrogen bonds, surface hydroxyl complexation, and ligand exchange induced by ≡C-O-Fe/Mg-OH dominated the stabilization process. Moreover, according to a 40-day incubation study in soil, 3FMKBC (1 wt. ml) decreased the available Sb (28.5% and 23.0%) and As (83.1% and 31.1%) extracted by toxicity characteristic leaching procedure (TCLP) and 0.1 M Na2HPO4, respectively. The above results indicated that 3FMKBC was an optimal amendment for limiting the migration and bioavailability of Sb and As. In addition, the sequential extraction and soil properties confirmed that 3FMKBC could realize the redistribution of resolved Sb and As between the soil solution and solid particles effectively, thereby converting the bioavailable/labile fraction of Sb and As to a more stabilized fraction. All results demonstrated that 3FMKBC could be a prospective material for Sb and As co-contamination stabilization.
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Arsênio , Poluentes do Solo , Antimônio/análise , Arsênio/análise , Carvão Vegetal , Humanos , Solo/química , Poluentes do Solo/análiseRESUMO
Currently, alleviating antimony (Sb) contamination in aqueous solutions is crucial for restoring and recovering ecological and environmental health. Due to its toxicity, bioaccumulation and mobile characteristics, developing an efficient technique for antimony decontamination is imperative. Herein, we prepared a Fe-Cu-chitosan (FCC) composite by a one-step coprecipitation method, in which nanoscale Fe/Cu acts as the active sites and the whole structure is exhibited as porous microscale particles. A Fe/Cu proportion of 2/1 (FCC-2/1) was determined to be the optimum proportion for antimony adsorption, specifically 34.5 mg g-1 for Sb(III) and 26.8 mg g-1 for Sb(V) (initial concentration: 5.0 mg L-1). Spectral characterization, batch experiments and density functional theory (DFT) simulations were applied to determine the adsorption mechanism, in which surface hydroxyls (-OH) were responsible for antimony complexion and Fe-Cu coupling was a major contributor to adsorption enhancement. According to kinetic analysis, Cu provided an electrostatic attraction during the adsorption process, which facilitated the transportation of antimony molecules to the material interface. In the meantime, the FCC electronic structure was modified due to the optimization of the Fe-Cu interface coupling. Based on the Mullikan net charge, the intrinsic Fe-O-Cu bond might favor interfacial electronic redistribution. When the antimony molecule contacted the adsorption interface, the electrons transferred swiftly as Fe/Cu 3d and O 2p orbital hybridization occurred, thus inducing a stabilizing effect. This work may offer a new perspective for binary oxide construction and its adsorption mechanism analysis.
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Antimônio , Quitosana , Adsorção , Antimônio/química , Cinética , ÓxidosRESUMO
Currently, the environmental and ecological damage caused by As(V) and Sb(V) co-contamination has attracted widespread attention worldwide. Due to the similar intrinsic structure configuration and electrostatic repulsion of As(V) and Sb(V), the long-standing issue of their low co-removal capacity remains unresolved. In this study, novel Fe-Cu (FC) binary materials with varied Fe/Cu proportions were synthesized via a simple co-precipitation method to co-eliminate aquatic As(V) and Sb(V). A 2/1 ratio of Fe/Cu was determined to be a suitable proportion with a higher co-adsorption capacity, specifically 70.9 mg·g-1 for As(V) and 94.3 mg·g-1 for Sb(V). Detailed morphological and structural analyses indicated that the FC material gradually changed from microscale aggregates to nanoscale spheres with increasing Cu content, accompanied by an increasing crystalline degree and higher surface area. Additionally, the transformation of amorphous ferrihydrite (FO) into FeO(OH) was suppressed by Fe-Cu complexion during the co-adsorption process, in which ferrihydrite (FO) had more adsorption sites than FeO(OH). In addition, the addition of Cu promoted the pHpzc of FC materials from the acidic range into the neutral or alkaline range. The increased potential difference of FC materials accelerated the As(V) and Sb(V) diffusion rate and effectively offset native electrostatic repulsion, which exhibited a considerable effect than the adsorption sites. Through detailed kinetic data analysis, it was determined that the proportion of the diffusion layer thickness around Sb(V) was suppressed to the As(V) level, and the adsorption kinetics of the two species were both promoted by the self-driven force field. All the results indicated that the co-adsorption capacity depended on the coupling contribution of Fe and Cu, where Fe oxide acted as the major adsorption potential and Cu provided a self-driven force for As(V) and Sb(V) diffusion. This study may provide a novel prospective for homogeneous metal ion co-removal.
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Óxidos , Poluentes Químicos da Água , Adsorção , Antimônio , Cobre , Concentração de Íons de Hidrogênio , Estudos Prospectivos , ÁguaRESUMO
BACKGROUND: Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients. RESULTS: A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations. Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patients and 15 patients from 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES was performed in 122 CCDDs patients. Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM) and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes. CONCLUSIONS: This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.
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Transtornos Congênitos de Denervação Craniana , Síndrome da Retração Ocular , Síndrome de Möbius , Oftalmoplegia , Humanos , População do Leste Asiático , Síndrome da Retração Ocular/diagnóstico , Síndrome da Retração Ocular/genética , Síndrome de Möbius/diagnóstico , FibroseRESUMO
OBJECTIVE: To described the clinical feature and MRI imaging of six children with vertical retraction syndrome. METHODS: Six children with unilateral vertical retraction syndrome between 15 months and 8 years of age, mean age was (5.01 ± 1.27) years old. Strabismus examination included diopter, prism diopters, eye movement examination, binocular vision and fundus examination. Imaging of the ocular motor nerves at the brainstem was performed in 0.8 mm thickness image planes using 3D-FIESTA sequence, the orbits were imaged with FSE T1, T2WI using surface coils, and within 2.0 mm thick planes. RESULTS: Four children showed hypertropia, characterized by limited depression, a light retraction of the globe during downward gaze and eyelid lag. The MRI imaging showed anomalous orbital structure in the superonasal quadrant that between medial rectus and superior rectus or adjacent to the superior rectus. Two children showed intermittent exotropia, characterized by limited elevation, retraction of the globe and narrowing of the palpebral fissure during upward gaze. The MRI imaging showed anomalous orbital structure was present in the inferotemporal quadrant, one originate in inferior rectus and another close to the lateral rectus. CONCLUSION: Anomalous orbital structures are a main cause of vertical retraction syndrome. The presence of specific unusual eye movement and MRI imaging may assist in diagnosis. When the eyelid lag was found since the early age, anomalous orbital structures were implied.
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Síndrome da Retração Ocular/diagnóstico , Imageamento por Ressonância Magnética , Órbita/patologia , Criança , Pré-Escolar , Movimentos Oculares , Feminino , Humanos , Lactente , MasculinoRESUMO
PURPOSE: Diabetic retinopathy (DR) has become the leading cause of blindness worldwide. In clinical practice, the detection of DR often takes a lot of time and effort for ophthalmologist. It is necessary to develop an automatic assistant diagnosis method based on medical image analysis techniques. METHODS: Firstly, we design a feature enhanced attention module to capture focus lesions and regions. Secondly, we propose a stage sampling strategy to solve the problem of data imbalance on datasets and avoid the CNN ignoring the focus features of samples that account for small parts. Finally, we treat DR detection as a regression task to keep the gradual change characteristics of lesions and output the final classification results through the optimization method on the validation set. RESULTS: Extensive experiments are conducted on open-source datasets. Our methods achieve 0.851 quadratic weighted kappa which outperforms first place in the Kaggle DR detection competition based on the EyePACS dataset and get the accuracy of 0.914 in the referable/non-referable task and 0.913 in the normal/abnormal task based on the Messidor dataset. CONCLUSION: In this paper, we propose three novel automatic DR detection methods based on deep convolutional neural networks. The results illustrate that our methods can obtain comparable performance compared with previous methods and generate visualization pictures with potential lesions for doctors and patients.
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Diabetes Mellitus , Retinopatia Diabética , Retinopatia Diabética/diagnóstico , Fundo de Olho , Humanos , Redes Neurais de ComputaçãoRESUMO
PURPOSE: To investigate the distribution pattern of the strabismus surgery undertaken at an eye centre in Beijing, China. METHODS: A retrospective analysis was conducted including the data of all strabismus surgeries performed in Beijing Tongren hospital for the 4 year period from 2003 to 2006. The proportions of different surgery types and their association with patients' age and gender were analyzed. RESULT: During the study period, 8997 strabismus surgeries were performed. The number of the surgeries increased progressively each year from 1507 in 2003 to 2769 in 2006 (p < 0.05). Intermittent exotropia was the most common of all strabismus surgeries (27.9%). Superior oblique palsy was the most common type among the paralytic strabismus surgeries. The proportions of different types of strabismus showed no significant change between successive years. Among the patients, the number of surgeries performed in the population aged 0-12 years was significantly higher than other age groups and increased from 35.37% in 2003 to 42.80% in 2006 (p < 0.05). CONCLUSION: There has been a continuous increase in the number of strabismus operations in our eye centre in Beijing, and this pattern is especially obvious in children. The distribution of surgery type remained relatively constant each year. Surgery for intermittent exotropia is the most common type of procedure.
Assuntos
Estrabismo/etiologia , Estrabismo/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , China/epidemiologia , Esotropia/epidemiologia , Exotropia/epidemiologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
The advent of magnetic resonance imaging (MRI) has given us previously unavailable opportunities to visualize the functional anatomy of extraocular muscles and corresponding ocular motor nerves along the intraorbital and intracranial course of living subjects. Ophthalmologists should be aware of these new MRI techniques. We believe that MRI will play a more marked role in the diagnosis and management of incomitant strabismus.