Importance Copy number variants (CNVs) and single-nucleotide variations (SNVs) or insertions deletions are key genetic contributors to neurodevelopmental disorders (NDDs). Traditionally, chromosome microarray exome sequencing (ES) have been used detect CNVs single gene variants, respectively. Objective To identify causing NDDs evaluate the diagnostic yield clinical utility of ES by simultaneously analyzing SNVs in patients with their biologic parents (trios). Design, Setting, Participants...

Purpose: To assess whether a generative adversarial network (GAN) could synthesize realistic optical coherence tomography (OCT) images that satisfactorily serve as the educational for retinal specialists and training datasets classification of various disorders using deep learning (DL). Methods: The GANs architecture was adopted to synthesis high-resolution OCT on publicly available dataset including urgent referrals (choroidal neovascularization diabetic macular edema) non-urgent (normal...

Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations the RB transcriptional corepressor 1 (RB1) gene. Genetic testing forms basis of genetic counseling for affected families, as well clinical management this disease. The aim study was to identify germline RB1 correlate identified with features Rb patients. Genomic DNA isolated peripheral blood 180 unrelated patients their parents (118 unilaterally 62...

Abstract We aim to observe the posterior scleral reinforcement (PSR) clinical outcomes of children with high myopia and analyze retinal vessel alteration before after PSR by using angiography optical coherence tomography (angio-OCT). Fifty-six pediatric participants (112 eyes) clinically diagnosed were recruited treated in Shanghai Children’s Hospital from June 1, 2021 May 2023. The average age ranged 5.42 14.83 years (mean 8.83 years) mean follow up duration was 8.7 months (3–24 months)....

To investigate the effects of (99)Tc-MDP, a decay product (99m)Tc-MDP, on development choroidal neovascularization (CNV), together with its underlying mechanisms.C57BL/6J mice were used to induce CNV by laser photocoagulation. (99)Tc-MDP at doses 0.5 × 10(-1), 1 and 2 10(-1) μg/kg or same volume PBS was intraperitoneally injected daily after photocoagulation until end experiment. Seven days injury, perfused fluorescein-labeled dextran, areas measured. Numbers infiltrating macrophages,...

为明确滇池流域水污染特征并提出有针对性的污染控制对策,对流域污染变化规律及其组成和空间分布特征进行分析.研究表明,近二三十年,滇池流域点源污染负荷的产生量和削减量显著增加,入湖量有所削减;城市面源入湖量随建成区面积的扩张而持续上升;农业面源入湖量在1990s出现峰值,随后下降.目前,滇池流域化学需氧量主要来源于城市面源;总氮主要来自污水处理厂尾水;总磷主要来自农业面源和未收集的点源;各控制单元入湖污染负荷已基本演变为以未收集的点源和城市面源为主.针对流域目前存在的问题,应继续坚持点源污染治理,高度重视城市面源污染治理,加强农业面源治理,进一步完善流域截污治污体系,为滇池水质改善创造条件.;In order to understand the pollution characteristics of Dianchi watershed and propose targeted countermeasures, study investigated variation pollutant load into Lake as well composition spatial...

Eye movement research is a burgeoning frontier area in cartography that has attracted much attention from cartographers. However, the substantial amount of relevant literature poses challenge for researchers aiming to obtain rapid understanding intellectual structure this field. The purpose paper introduce use bibliometric analysis methods and multiple visual metaphors visualize eye cartography, including classic literature, theme clusters, hotspots, etc. We also explain geovisualization...

To evaluate reading ability and stereoscopic vision with combined implantation of refractive diffractive multifocal intraocular lenses (IOLs).Thirty-one cataract patients (62 eyes) were assigned to receive either a ReZoom NXG1 IOL in the dominant eye Tecnis ZM900 fellow (MIOL group), or Sensar AR40e IOLs bilaterally (SIOL group). The uncorrected visual acuity (UCVA) at 500 cm, best spectacle-corrected (BSCVA) acuity, speed, near stereoacuity questionnaire assessed 3 months...

Abstract Background Learning to perform strabismus surgery is an essential aspect of ophthalmologists’ surgical training. Automated classification strategy for steps can improve the effectiveness training curricula and efficient evaluation residents’ performance. To this end, we aimed develop validate a deep learning (DL) model automated detecting in videos. Methods In study, gathered 479 videos from Shanghai Children’s Hospital, affiliated Jiao Tong University School Medicine, spanning July...

To describe the clinical features of congenital double elevator palsy (CDEP) and to evaluate various surgical outcomes between standard Knapp augmented procedures, based on improvements in primary eye position ocular motility.Twenty-two patients with CDEP at Shanghai Children's Hospital were enrolled from July 2014 January 2018. The forced duction test (FDT) was negative 21 patients, aged 8mo 12y (mean 5.4y). Patients divided into two treatment groups: 16 underwent procedure (group A), or...

To evaluate the outcome of ultrasound (US)-guided minimally invasive percutaneous nephrolithotomy (MPCNL) in management upper ureteral and renal stones pediatric patients.We collected data 112 patients who were admitted to xxxx between March 2006 December 2016 treated by US-guided MPCNL. Our cohort included ureter (n = 11), single kidney 46), multiple 56), staghorn 12).Patients 0.5 13 years old with stone sizes from 10 50 mm. Operation duration ranged 15 195 minutes. On average, nephrostomy...

Purpose Using optical coherence tomography angiography (OCT-A) to compare the retinal micro vessel alteration between obstructive sleep apnea (OSA) children and normal subjects.Methods One hundred-thirty-two eyes (132 participants) were recruited in this study. The average age of OSA group (66 eyes) healthy control 6.23 ± 1.73 6.76 1.89 years, respectively. vascular network density indices fovea avascular zone (FAZ) size analyzed by OCT-A.Results All OCT-A parafoveal indices, including...

Abstract To compare and assess the choroidal retinal microstructural vascularity in amblyopic eyes with fellow anisometropic children using angiography optical coherence tomography (Angio-OCT). Twenty-seven (54 eyes; 5.59 ± 1.08 years old; 59.3% girls) were enrolled this study. Choroidal thickness (CT) was measured use of enhanced depth imaging mode Angio-OCT. Parafoveal/peripapillary vascular density indices foveal avascular zone (FAZ) size analyzed by MATLAB code programming on Angio-OCT...

Cortical visual impairment (CVI) is the common cause of pediatric in cerebral palsy (CP) while exotropia most strabismus associated with CP. We aim to observe strabismic surgery outcomes patients CP and CVI.Our medical records were collected from treated our hospital May 1, 2017 Jan 2022. With normal intelligence assessment diagnosis children CVI, microsurgeries performed under intravenous combined inhalation anesthesia. The was examined by prism test best vision correction contrast...

<b><i>Objectives:</i></b> The aim of this study was to evaluate the characteristics renal arterial segment bleeding and assess outcome selective artery embolization (SRAE). <b><i>Methods:</i></b> Data on 35 patients in whom SRAE performed after percutaneous nephrolithotomy (PCNL) from January 2005 December 2015 our institute were retrospectively analyzed. All had severe but failed respond conservative therapy....